ORCID Profile
0000-0001-8722-1575
Current Organisations
ISIS Neutron and Muon source
,
University of Western Australia
,
Telethon Kids Institute
,
University of Oxford
,
Diamond Light Source
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Publisher: Wiley
Date: 08-08-2008
DOI: 10.1016/J.ADOLESCENCE.2008.03.004
Abstract: This study investigated the relation between friendship, loneliness and depressive symptoms in adolescents with Asperger's Syndrome (AS). Thirty‐five adolescents with AS and 35 controls matched on chronological age, school year and gender distribution, completed questionnaires designed to ascertain the quality of their best‐friendship, motivation for developing friendships, feelings of loneliness and depressive symptomatology. Relative to the comparison group, the participants with AS reported poorer quality of best‐friendship and less motivation to develop friendships. The in iduals with AS displayed higher levels of loneliness and depressive symptoms, with loneliness being negatively correlated with the quality of their best‐friendship. Increased levels of loneliness in the adolescents with AS was predicted by the extent to which their best‐friendships were characterized by high levels of conflict/betrayal. Increased depressive symptoms in the adolescents with AS were also predicted by this factor. The findings indicate that increased levels of negative affect may be related to the poor quality of social relationships often reported in this population.
Publisher: Public Library of Science (PLoS)
Date: 28-11-2012
Publisher: Springer Science and Business Media LLC
Date: 19-10-2016
Publisher: Springer Science and Business Media LLC
Date: 26-08-2021
Publisher: Elsevier BV
Date: 09-2017
DOI: 10.1093/BJA/AEW413
Publisher: Frontiers Media SA
Date: 09-02-2023
DOI: 10.3389/FNBEH.2023.1037967
Abstract: Circumscribed interests (CI) encompass a range of different interests and related behaviors that can be characterized by either a high intensity but otherwise usual topic [referred to as restricted interests (RI)] or by a focus on topics that are not salient outside of autism [referred to as unusual interests (UI)]. Previous research has suggested that there is pronounced variability across in iduals in terms of the endorsement of different interests, however, this variability has not been quantified using formal subtyping approaches. Therefore, using Latent Profile Analysis in a s le of 1,892 autistic youth (M age = 10.82, SD age = 4.14 420 females), this study aimed to identify subgroups based on the RU and UI profiles. Three profiles of autistic in iduals were identified. They were characterized as Low CI, Predominantly RI, and Predominantly UI. Importantly, profiles differed on several key demographic and clinical variables, including age, sex composition, IQ, language level, social and communication abilities, anxiety, and obsessive-compulsive behaviors. Although replication across other s les is needed, the profiles identified in this study are potentially promising for future research given their distinct profiles of RI and UI and unique patterns of associations with key cognitive and clinical variables. Therefore, this study represents an important initial step towards more in idualized assessment and support for erse presentations of CI in autistic youth.
Publisher: Wiley
Date: 30-08-2020
DOI: 10.1111/DMCN.14657
Abstract: To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL. The caregivers of 435 children (211 females, 224 males mean age 12y SD 3y 11mo age range 5–18y) with intellectual disability and autism spectrum disorder, cerebral palsy, Down syndrome, or Rett syndrome reported on their child’s functioning (dependence for managing personal needs, mobility, communication, eye contact when speaking), frequency of participation, and QoL. Linear regression and mediation analyses were used to evaluate the relationships between child functioning, participation, and QoL. Children with greater dependency for managing personal needs and limited eye contact when speaking experienced poorer QoL. Less impaired functioning was associated with more frequent participation, which, in turn, was associated with a 3‐point gain in QoL for each additional point in frequency of participation (coefficient=2.67, 95% confidence interval 1.56–3.78). The effect of impaired functioning on QoL was partially mediated by participation in children with greater dependency in managing personal needs and those with mildly impaired communication. Greater levels of impairments with poorer functioning, notably a high level of dependence, were associated with poorer QoL. Poorer QoL can be partly explained by less frequent community participation.
Publisher: Wiley
Date: 29-08-2019
DOI: 10.1002/AUR.2198
Abstract: The Autism-Spectrum Quotient (AQ) is a psychometric scale that is commonly used to assess autistic-like traits and behaviors expressed by neurotypical in iduals. A potential strength of the AQ is that it provides subscale scores that are specific to certain dimensions associated with autism such as social difficulty and restricted interests. However, multiple psychometric evaluations of the AQ have led to substantial disagreement as to how many factors exist in the scale, and how these factors are defined. These challenges have been exacerbated by limitations in study designs, such as insufficient s le sizes as well as a reliance on Pearson, rather than polychoric, correlations. In addition, several proposed models of the AQ suggest that some factors are uncorrelated, or negatively correlated, which has ramifications for whether total-scale scores are meaningfully interpretable-an issue not raised by previous work. The aims of the current study were to provide: (a) guidance as to which models of the AQ are viable for research purposes, and (b) evidence as to whether total-scale scores are adequately interpretable for research purposes. We conducted a comprehensive series of confirmatory factor analyses on 11 competing AQ models using two large s les drawn from an undergraduate population (n = 1,702) and the general population (n = 1,280). Psychometric evidence largely supported using the three-factor model described by Russell-Smith et al. [Personality and In idual Differences 51(2), 128-132 (2011)], but did not support the use of total-scale scores. We recommend that researchers consider using AQ subscale scores instead of total-scale scores. Autism Res 2020, 13: 45-60. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We examined 11 different ways of scoring subscales in the popular Autism-Spectrum Quotient (AQ) questionnaire in two large s les of participants (i.e., general population and undergraduate students). We found that a three-subscale model that used "Social Skill," "Patterns/Details," and "Communication/Mindreading" subscales was the best way to examine specific types of autistic traits in the AQ. We also found some weak associations between the three subscales-for ex le, being high on the "Patterns/Details" subscale was not predictive of scores on the other subscales. This means that meaningful interpretation of overall scores on the AQ is limited.
Publisher: Wiley
Date: 13-12-2023
DOI: 10.1002/AUR.2874
Abstract: Our previous cross‐sectional investigation (Chetcuti et al., 2020) showed that infants with autism traits could be ided into distinct subgroups based on temperament. This longitudinal study builds on this existing work by exploring the continuity of temperament subgroup classifications and their associations with behavioral/clinical phenotypic features from infancy to toddlerhood. 103 infants (68% male) showing early signs of autism were referred to the study by community healthcare professionals and seen for assessments when aged around 12‐months (Time 1), 18‐months (Time 2), and 24‐months (Time 3). Latent profile analysis revealed inhibited/low positive, active/negative reactive , and sociable/well‐regulated subgroups at each timepoint, and a unique reactive/regulated subgroup at Time 3. Cross‐tabulations indicated a significant likelihood of children having a recurrent subgroup classification from one timepoint to the next, and no apparent patterns to the movement of children who did change from one subgroup to another over time. Temperament subgroups were associated with concurrent child social–emotional functioning and autism traits, but unrelated to child age, sex, or developmental level. These findings suggest that temperament subgroup classifications might represent a reliable and very early indicator of autism characteristics and social–emotional functioning among infants/toddlers with autism traits.
Publisher: Herbert Publications PVT LTD
Date: 2014
Publisher: Herbert Publications PVT LTD
Date: 2014
Publisher: Wiley
Date: 20-01-2012
DOI: 10.1111/J.1365-3016.2011.01257.X
Abstract: The current study sought to determine whether hypertensive diseases of pregnancy (gestational hypertension and pre-ecl sia) are associated with neurocognitive outcomes in middle childhood. Participants were members of the Western Australian Pregnancy Cohort (Raine) Study. Data were available for 1389 children (675 females mean age = 10.59 years SD = 0.19). Twenty-five per cent of these participants were offspring of pregnancies complicated by either gestational hypertension (n = 279), or pre-ecl sia (n = 34). Verbal ability at age 10 years was assessed with the Peabody Picture Vocabulary Test - Revised (PPVT-R), and non-verbal ability with Ravens Colored Progressive Matrices (RCPM). Separate multivariable regression analyses, incorporating sociodemographic, antenatal, obstetric and postnatal covariates, investigated the effect of a two- (normotensive pregnancy vs. hypertensive pregnancy) and three-level (normotensive pregnancy vs. gestational hypertension vs. pre-ecl sia) predictor variable on PPVT-R and RCPM scores. Offspring of pregnancies complicated by maternal hypertension (gestational hypertension or pre-ecl sia) had a mean PPVT-R score that was 1.83 ([95% confidence interval (CI) -3.48, -0.17], P = 0.03) points lower than children from normotensive pregnancies. Multivariable regression analysis also identified a significant inverse association between the three-level predictor variable and offspring PPVT-R scores (P = 0.02). Gestational hypertension (without pre-ecl sia) reduced offspring PPVT-R scores by 1.71 points [95% CI -3.39, -0.03] and pre-ecl sia led to a reduction of 3.53 points [95% CI -8.41, 1.35], although this latter association did not achieve statistical significance. There was no effect of the two- (P = 0.99) or three-level (P = 0.92) predictor variable on RCPM scores. Maternal hypertensive diseases of pregnancy are a risk factor for a small reduction in offspring verbal ability.
Publisher: Wiley
Date: 23-12-2022
DOI: 10.1002/AUR.2879
Abstract: While theory supports bidirectional effects between caregiver sensitivity and language use, and infant language acquisition—both caregiver‐to‐infant and also infant‐to‐caregiver effects—empirical research has chiefly explored the former unidirectional path. In the context of infants showing early signs of autism, we investigated prospective bidirectional associations with 6‐min free‐play interaction s les collected for 103 caregivers and their infants (mean age 12‐months and followed up 6‐months later). We anticipated that measures of caregiver sensitivity/language input and infant language would show within‐domain temporal stability/continuity, but also that there would be predictive associations from earlier caregiver input to subsequent child language, and vice versa. Caregiver sensitive responsiveness (from the Manchester Assessment of Caregiver–Infant interaction [MACI]) predicted subsequent infant word tokens (i.e., amount of language, coded following the Systematic Analysis of Language Transcripts [SALT]). Further, earlier infant Mean Length of Utterance (MLU reflecting language complexity, also derived from SALT coding) predicted later caregiver MLU, even when controlling for variability in infant ages and clear within‐domain temporal stability/continuity in key measures (i.e., caregiver sensitive responsiveness and infant word tokens and infant and caregiver MLU). These data add empirical support to theorization on how caregiver input can be both supportive of, and potentially influenced by, infant capacities, when infants have social‐communication differences and/or communication/language delays suggestive of possible emerging autism.
Publisher: Elsevier BV
Date: 12-2014
DOI: 10.1016/J.BIOPSYCHO.2014.08.009
Abstract: Two competing theories address the influence of foetal testosterone on cerebral laterality: one proposing exposure to high foetal testosterone concentrations is related to atypical lateralisation (Geschwind-Galaburda hypothesis), the other that high foetal testosterone concentrations exaggerate typical lateralisation (callosal hypothesis). The current study examined the relationship between cord testosterone concentrations and cerebral laterality for language and spatial memory in adulthood. Male participants with high (>0.15nmol) and low (<0.10nmol) cord testosterone levels were invited to take part in the study (n=18 in each group). Cerebral laterality was measured using functional Transcranial Doppler ultrasonography, while participants completed word generation and visual short-term memory tasks. Typical left lateralisation of language was more common in the high-testosterone group than in the low-testosterone group, χ(2)=4.50, df=1, p=034. Spatial memory laterality was unrelated to cord testosterone level. Our findings indicate that foetal testosterone exposure is related to language laterality in a direction that supports the callosal hypothesis.
Publisher: Elsevier
Date: 2022
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 24-01-2022
Publisher: Wiley
Date: 30-03-2017
DOI: 10.1111/JCPP.12721
Publisher: SAGE Publications
Date: 26-10-2019
Abstract: Domains of quality of life in children with autism spectrum disorder have not previously been explored and there has been no quality of life measure developed for this population. Our study investigated parent observations to identify the domains important to children with autism spectrum disorder who also had an intellectual disability. In all, 21 parents (19 mothers, 2 fathers) of children with autism spectrum disorder (aged 6–17 years) participated in a qualitative study to discuss their child’s quality of life. Thematic analysis using a grounded theory framework was conducted and 10 domains emerged in relation to health and well-being, capacity to perform and develop skills in daily life, and connections with the community and environment. Unique aspects of quality of life included varying levels of social desire, consistency of routines, and time spent in nature and the outdoors, which are not comprehensively captured in existing measures. Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder and support the development of a new measure for this population.
Publisher: Elsevier BV
Date: 11-2011
DOI: 10.1016/J.YHBEH.2011.08.011
Abstract: In this paper we review the evidence that fetuses gestated with a male co-twin are masculinized in development, perhaps due to the influence of prenatal androgens: the so-called twin testosterone transfer (TTT) hypothesis. Evidence from studies of behavioral, perceptual, cognitive, morphological and physiological traits in same- and opposite-sex human twins is considered. Apart from two studies reporting increases in aspects of sensation-seeking for females with a male rather than a female co-twin, there is sparse evidence supporting the TTT hypothesis in behavioral studies. Outcomes from studies of perception (in particular otoacoustic emissions) and cognition (in particular vocabulary acquisition and visuo-spatial ability) provide more consistent evidence in support of masculinized performance in twins with a male co-twin compared to twins with a female co-twin. The outcomes favorable to the TTT hypothesis for otoacoustic emissions and visuo-spatial ability are restricted to females. Studies of physiology and morphology (e.g., brain volume, tooth size and 2D:4D ratio) also show some influence of co-twin sex, but again these effects are often restricted to female twins. Because females produce little endogenous testosterone, the effects of gestation with a male co-twin may be more pronounced in females than males. Thus, while uneven, the evidence for the TTT hypothesis is sufficient to warrant further investigation, ideally using large s les of same- and opposite-sex twins, along with control groups of same- and opposite-sex siblings when the characteristics assessed are potentially open to social influences.
Publisher: Oxford University Press (OUP)
Date: 30-04-2016
Abstract: We examined the academic performance at age 12 years of children of mothers diagnosed with schizophrenia or other severe mental illness using a large whole-population birth cohort born in Western Australia. We investigated the association between academic performance and the subsequent development of psychotic illness. The s le comprised 3169 children of mothers with severe mental illness (schizophrenia, bipolar disorder, unipolar major depression, delusional disorder or other psychoses ICD-9 codes 295–298), and 88 353 children of comparison mothers without known psychiatric morbidity. Academic performance of children was indexed on a mandatory state-wide test of reading, spelling, writing and numeracy. A larger proportion of children (43.1%) of mothers with severe mental illness performed below the acceptable standard than the reference group (30.3% children of mothers with no known severe mental illness). After adjusting for covariates, children of mothers with any severe mental illness were more likely than the reference group to perform below-benchmark on all domains except reading. For all children, poor spelling was associated with the later development of psychosis, but particularly for those at familial risk for severe mental illness (hazard ratio [HR] = 1.81 95% CI for HR = 1.21, 2.72). Children of mothers with a severe mental illness are at increased risk for sub-standard academic achievement at age 12 years, placing these children at disadvantage for the transition to secondary school. For children with familial risk for severe mental illness, very poor spelling skills at age 12 years may be an indicator of risk for later psychotic disorder.
Publisher: Cambridge University Press (CUP)
Date: 29-09-2021
DOI: 10.1017/S0033291721003883
Abstract: Cognitive and motor dysfunction are hallmark features of the psychosis continuum, and have been detected during late childhood and adolescence in youth who report psychotic experiences (PE). However, previous investigations have not explored infancy and early childhood development. It remains unclear whether such deficits emerge much earlier in life, and whether they are associated with psychotic, specifically hallucinatory, experiences (HE). This study included data from Gen2 participants of The Raine Study ( n = 1101), a population-based longitudinal cohort study in Western Australia. Five areas of childhood development comprising: communication fine motor gross motor adaptive (problem-solving) and personal-social skills, were assessed serially at ages 1, 2 and 3 years. Information on HE, depression and anxiety at ages 10, 14 and 17 years was obtained. HE were further sub ided into those with transient or recurrent experiences. Mixed effects logistic regression models and cumulative risk analyses based on multiple domain delays were performed. Early poorer development in multiple areas was noted from ages 1, 2 and 3 years among youth who reported HE. Early developmental delays significantly increased the risk for later HE. This association was particularly marked in the recurrent HE group, with over 40% having early developmental delays in multiple domains. There was no significant association between early childhood development and later anxiety/depression apart from lower gross motor scores at age 3. The findings suggest that early pan-developmental deficits are associated with later HE, with the effect strongest for young people who report recurrent HE throughout childhood and adolescence.
Publisher: American Medical Association (AMA)
Date: 25-02-2020
Publisher: Springer Science and Business Media LLC
Date: 05-11-2021
DOI: 10.1007/S10803-021-05333-W
Abstract: This study aimed to explore the rates of motor difficulties in children from the Australian Autism Biobank, and how early motor concerns impacted on children functionally. Children with autism aged 2-7 years, including 441 with a Vineland Adaptive Behavior Scale (VABS-II) motor subscale and 385 with a Mullen Scales of Early Learning (MSEL) fine motor subscale were included (n total = 514 80% male). Approximately 60% of children on the MSEL and ~ 25% on the VABS-II had clinically significant motor impairments. More children with delayed sitting and walking motor milestones had early childhood parent reported motor difficulties (p < 0.001). Early motor delays or concerns may assist identifying in iduals who will likely benefit from early ongoing developmental monitoring and early support.
Publisher: American Medical Association (AMA)
Date: 11-2021
Publisher: SAGE Publications
Date: 24-11-2022
DOI: 10.1177/13623613211056720
Abstract: Despite their high prevalence and clinical importance in autism, unusual and restricted interests remain under-researched and poorly understood. This study aimed to characterize the frequency and type of interests in autism by coding caregivers’ open-ended responses in a s le of 237 autistic children and adolescents ( M age = 8.27 years, SD age = 4.07 range: 2.08–18.25 years). It further aimed to explore the effects of age, sex, cognitive functioning and social and communication deficits on the number and type of interests. We found that 75% of autistic youth had at least one interest and that 50% of those children showed two or more different interests. The most frequent interests were sensory-based (43%), with a majority of these interests relating to the visual modality. Interest within vehicles/transportation, fictional characters, television/digital versatile disk/movies, computers, and video games, constructive, mechanical objects, animals and plants, and attachment to specific objects were also prevalent. Logistic regression showed that being male, having a co-occurring intellectual disability and having more severe social and communication impairments were associated with a higher probability of having one or more restricted interests. Sex was significantly associated with the type (χ 2 = 37.52, Phi = 0.37, p = 0.021) of restricted interests, with females showing a significantly higher percentage of creative interests and males significantly higher percentage of interest in characters, vehicles/transportation, computers/video games, mechanical objects and constructive interests. Theoretical and measurement implications are discussed. Despite being highly prevalent among people with autism, restricted and unusual interests remain under-researched and poorly understood. This article confirms that restricted interests are very frequent and varied among children and adolescents with autism. It also further extends current knowledge in this area by characterizing the relationship between the presence, number, and type of restricted interests with chronological age, sex, cognitive functioning, and social and communication symptoms.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 07-2017
DOI: 10.1097/ANA.0000000000000303
Abstract: Although some studies have reported an association between early exposure to anesthesia and surgery and long-term neurodevelopmental deficit, the clinical phenotype of children exposed to anesthesia is still unknown. Data were obtained from the Western Australian Pregnancy Cohort Study (Raine) with neuropsychological tests at age 10 years measuring language, cognition, motor function, and behavior. Latent class analysis of the tests was used to ide the cohort into mutually exclusive subclasses of neurodevelopmental deficit. Multivariable polytomous logistic regression was used to evaluate the association between exposure to surgery and anesthesia and each latent class, adjusting for demographic and medical covariates. In our cohort of 1444 children, latent class analysis identified 4 subclasses: (1) Normal: few deficits (n=1135, 78.6%) (2) Language and Cognitive deficits: primarily language, cognitive, and motor deficits (n=96, 6.6%) (3) Behavioral deficits: primarily behavioral deficits, (n=151, 10.5%) and (4) Severe deficits: deficits in all neuropsychological domains (n=62, 4.3%). Language and cognitive deficit group children were more likely to have exposure before age 3 (adjusted odds ratio [aOR], 2.11 95% confidence interval [CI], 1.17-3.81), whereas a difference in exposure was not found between Behavioral or Severe deficit children (aOR, 1.00 95% CI, 0.58-1.73, and aOR, 0.85 95% CI, 0.34-2.15, respectively) and Normal children. Our results suggest that in evaluating children exposed to surgery and anesthesia at an early age, the phenotype of interest may be children with deficits primarily in language and cognition, and not children with broad neurodevelopmental delay or primarily behavioral deficits.
Publisher: Oxford University Press (OUP)
Date: 31-08-2012
Abstract: Plasma renin activity (PRA) has been shown to predict future cardiovascular (CV) events in observational studies and in clinical trials and to be associated with the prevalence of chronic renal disease in hypertensive subjects. In a nested case-control study, we explored the relationship between CV and renal outcomes and all-cause mortality with baseline measurements of PRA among hypertensive adults randomized in the ASCOT trial. In the UK and Ireland, ASCOT included 9098 hypertensive adults randomized to either calcium channel blocker (CCB)- or β-blocker (BB)-based treatment. Four thousand eight hundred and fifty-three patients with total cholesterol ≤6.5 mmol/L (250 mg/L) were further randomized to atorvastatin or placebo. Over 5.5 years, there were 399 CV events (fatal coronary heart disease (CHD), non-fatal myocardial infarction, coronary revascularization, and fatal and non-fatal stroke), 96 cases of new-onset renal impairment, and 220 deaths. Cases were age, sex, and ethnicity matched with 1525 controls. Conditional logistic regression models were used to evaluate the association between CV events, renal impairment, all-cause mortality, and PRA. For those on antihypertensive (AHT) treatment at the baseline (91.5%), PRA was influenced by prior drug treatment. The median (inter-quartile range ng/mL/h) levels were 1.04 (0.52, 1.3) for BBs, 1.30 (0.78, 2.72) for CCBs, 1.56 (0.91, 3.50) for diuretics, and 2.33 (1.30, 5.57) for angiotensin-converting enzyme inhibitors or angiotensin receptor blockers. Odds ratios (OR) and 95% confidence intervals (CIs) for CV and other events were estimated for 1-SD increase in log-transformed PRA levels and by categorizing PRA into quartiles with the lowest as the referent category. Baseline PRA did not predict CV events in models adjusted for baseline characteristics [OR 0.92 (CI 0.81, 1.06, P = 0.25)] and for pre-randomized AHT treatment [OR 0.91 (CI 0.79, 1.04, P = 0.17)] and was not associated with all-cause mortality [OR 1.12 (CI 0.92, 1.37, P = 0.25) and OR 1.06 (CI 0.91, 1.24, P = 0.46)] in the fully adjusted model. Baseline levels of PRA were positively but non-significantly associated with the development of renal impairment in models adjusted for baseline characteristics [OR 1.39 (CI 0.97, 1.97, P = 0.07)] and also for pre-randomized antihypertensive (AHT) treatment [OR 1.35 (CI 0.95, 1.94, P = 0.10)]. Quartile analyses, however, demonstrated a significant positive association of higher levels of PRA with the development of impaired renal function (P = 0.03 and 0.05 in adjusted models, respectively) compared with the lowest quartile. These analyses suggest an association between elevated baseline PRA and the subsequent development of renal impairment but do not support its use to predict future CV events or all-cause mortality in treated hypertensive patients without diagnosed CHD.
Publisher: Springer Science and Business Media LLC
Date: 05-04-2023
Publisher: Wiley
Date: 15-09-2017
DOI: 10.1111/DMCN.13555
Abstract: Mental health conditions and problems are often reported in children and adolescents with cerebral palsy (CP). A systematic review was undertaken to describe their prevalence. MEDLINE and PsycINFO databases from 1996 to 2016 were searched and reference lists of selected studies were reviewed. Studies were included if they reported point prevalence of mental health diagnoses or symptoms in a general population of children and/or adolescents with CP. Pooled prevalence for mental health symptoms was determined using a random effects meta-analysis. Of the 3158 studies identified, eight met the inclusion criteria. Mental health disorders were diagnosed by psychiatric interview in one study, giving a prevalence of 57% (32 out of 56 children). The remaining seven studies (n=1715 children) used parent-report mental health screening tools. The pooled prevalence for mental health symptoms using the Strengths and Difficulties Questionnaire (n=5 studies) was 35% (95% confidence interval [CI] 20-61) and using the Child Behavior Checklist (n=2 studies) was 28% (95% CI 22-36). Evidence was characterized by a moderate level of bias. More studies are needed to ascertain the prevalence of mental health disorders. Mental health symptoms are common and mental health evaluations should be incorporated into multidisciplinary assessments for these children. Children with cerebral palsy and intellectual disability have a higher risk of mental health symptoms. The prevalence of mental health symptoms for age and severity groups is unclear.
Publisher: Public Library of Science (PLoS)
Date: 20-08-2012
Publisher: Wiley
Date: 06-06-2022
DOI: 10.1002/AUR.2762
Abstract: Sensory modulation symptoms form a diagnostic criterion for autism spectrum disorder and are associated with significant daily functional limitations. Utilizing caregiver report on Short Sensory Profile‐2 (SSP‐2) for 919 autistic children (3–14.11 years), we examined the expression of sensory modulation symptoms by age and sex and investigated the existence of specific sensory modulation subtypes. Sensory modulation symptoms appeared to peak in frequency during middle childhood, particularly in sensory sensitivity and avoidance. Symptoms associated with sensory hypo‐reactivity and seeking tended not differ between age cohorts. Males and females demonstrated similar overall sensory modulation profiles, however, females showed elevated symptoms relating to sensory sensitivity. Model‐based cluster analysis revealed five interpretable sensory modulation subtypes which related to symptom severity (low, mid‐range, high). Subtypes demonstrating mid‐range symptom severity differed in focus on sensory hyper‐reactivity or seeking symptoms. The findings of this study report for the first time that age‐related differences in sensory modulation symptoms may be associated with sensory hyper‐reactivity only. The subtyping results also suggest that sensory modulation symptom severity is a reliable means of classifying variance within autistic children, however, consideration of differences in the behavioral strategies employed by in iduals to manage sensory modulation symptoms may inform tailored supportive strategies. We studied sensory symptoms such as over‐responding, under‐responding and sensation seeking behaviors in 919 autistic children and adolescents. We found that 6–12‐year‐olds and females displayed the most sensory over‐responding symptoms. Autistic children could be grouped into mild, moderate, and severe levels of sensory symptoms, however, children differed in the type of strategies used to cope with their sensory symptoms meaning that they may require different intervention approaches.
Publisher: Informa UK Limited
Date: 03-2004
Publisher: Springer Science and Business Media LLC
Date: 08-2001
Publisher: Elsevier BV
Date: 07-2022
DOI: 10.1016/J.JAAC.2021.11.035
Abstract: To investigate the genetic architecture of internalizing symptoms in childhood and adolescence. In 22 cohorts, multiple univariate genome-wide association studies (GWASs) were performed using repeated assessments of internalizing symptoms, in a total of 64,561 children and adolescents between 3 and 18 years of age. Results were aggregated in meta-analyses that accounted for s le overlap, first using all available data, and then using subsets of measurements grouped by rater, age, and instrument. The meta-analysis of overall internalizing symptoms (INT Genetic correlations indicate that childhood and adolescent internalizing symptoms share substantial genetic vulnerabilities with adult internalizing disorders and other childhood psychiatric traits, which could partially explain both the persistence of internalizing symptoms over time and the high comorbidity among childhood psychiatric traits. Reducing phenotypic heterogeneity in childhood s les will be key in paving the way to future GWAS success.
Publisher: Springer Science and Business Media LLC
Date: 19-04-2017
DOI: 10.1007/S10803-017-3119-Z
Abstract: There is preliminary evidence that infant siblings of children with Autism Spectrum Disorder (ASD) have an atypical pattern of cry, characterized by higher fundamental frequency and increased dysphonation. This prospective study collected multiple cry s les of 12-month old siblings of children with ASD (n = 22, 'high-risk' group) and 12-month olds with no family history of ASD (n = 27, 'low risk' group). While there was no difference between groups in the fundamental frequency or degree of phonation of the cry s les, the duration of each cry unit was significantly shorter in the high-risk siblings (p < .05). The six infant siblings who received a diagnosis of ASD at age two had amongst the shortest recorded cry durations.
Publisher: Springer Science and Business Media LLC
Date: 03-2019
Publisher: AMPCo
Date: 04-2013
DOI: 10.5694/MJA12.11667
Publisher: Springer Science and Business Media LLC
Date: 08-11-2021
Publisher: Springer Science and Business Media LLC
Date: 30-10-2012
Publisher: American Academy of Pediatrics (AAP)
Date: 08-2011
Abstract: Although many toddlers with expressive vocabulary delay (“late talkers”) present with age-appropriate language skills by the time they are of school age, little is known about their broader behavioral and emotional profile. The aim of this study was to determine whether late talkers are at increased risk for behavioral and emotional problems during childhood and adolescence. Participants were from the Western Australian Pregnancy Cohort Study. Early expressive vocabulary was measured by parent report at age 2 years using the Language Development Survey. Late talkers were defined as toddlers who scored at or below the 15th percentile on the Language Development Survey for their gender but were screened not to have any other developmental delays. The Child Behavior Checklist was used to measure problem child behavior with continuous z scores and clinical thresholds at ages 2, 5, 8, 10, 14, and 17 years. Potential confounders included maternal and family sociodemographic characteristics as well as prenatal smoking and alcohol exposure. At age 2 years, late talkers (n = 142) had higher Child Behavior Checklist scores (representing poorer behavior) than control toddlers (n = 1245) in total, internalizing, and externalizing scales and higher risk for clinically significant internalizing and externalizing problems. Regression models, incorporating the confounding variables, revealed no association between late-talking status at age 2 years and behavioral and emotional problems at the 5-, 8-, 10-, 14-, and 17-year follow-ups. Expressive vocabulary delay at the age of 2 years is not in itself a risk factor for later behavioral and emotional disturbances.
Publisher: Informa UK Limited
Date: 19-07-2013
DOI: 10.3109/17518423.2013.784817
Abstract: To investigate use patterns and learning outcomes associated with the use of Therapy Outcomes By You (TOBY. Playpad, an early intervention iPad application. Participants were 33 families with a child with an autism spectrum disorder (ASD) aged 16 years or less, and with a diagnosis of autism or pervasive developmental disorder - not otherwise specified, and no secondary diagnoses. Families were provided with TOBY and asked to use it for 4-6 weeks, without further prompting or coaching. Dependent variables included participant use patterns and initial indicators of child progress. Twenty-three participants engaged extensively with TOBY, being exposed to at least 100 complete learn units and completing between 17% and 100% of the curriculum. TOBY may make a useful contribution to early intervention programming for children with ASD delivering high rates of appropriate learning opportunities. Further research evaluating the efficacy of TOBY in relation to independent indicators of functioning is warranted.
Publisher: Elsevier BV
Date: 11-2014
Publisher: John Benjamins Publishing Company
Date: 2014
Publisher: Wiley
Date: 25-05-2017
DOI: 10.1111/JCPP.12752
Abstract: Technology-based interventions for Autism Spectrum Disorder (ASD) have proliferated, but few have been evaluated within the context of a randomised controlled trial (RCT). This RCT evaluated the efficacy of one technology-based early intervention programme (Therapy Outcomes By You TOBY) in young children with ASD. TOBY is an app-based learning curriculum designed for children and parents as a complement to early behavioural intervention. Eighty children (16 female) were recruited to this RCT within 12 months of receiving a diagnosis of ASD (M age = 3.38 SD = 0.69) and randomised to receive either treatment-as-usual (community-based intervention, n = 39) or the TOBY therapy (at least 20 min/day) plus treatment-as-usual (n = 41) for a period of 6 months. Outcomes were assessed at 3 and 6 months postbaseline. (Australian New Zealand Clinical Trials Registry: ACTRN12614000738628 www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=365463). Children in the TOBY intervention group averaged 19 min/day engaging with the app in the first 3 months, but only 2 min/day during the second 3 months. There was no group difference in scores on the primary outcome, the Autism Treatment Evaluation Checklist, at either the 3- or 6-month follow-up. However, significant improvements at the 6-month follow-up were observed in the TOBY intervention group relative to the treatment-as-usual group on three secondary outcomes: the Fine Motor and Visual Reception subscales of the Mullen Scale of Early Learning and the Total Words Understood scale of the MacArthur-Bates Communicative Development Index. Statistical trends towards improvement in the TOBY intervention group were observed on measures of adaptive function, although these decreased in magnitude from the 3- to 6-month follow-up. This study provides evidence that technology-based interventions may provide a relatively low-cost addition to existing therapist-delivered interventions for children with ASD. However, sustained use of the app over the full 6-month period was a challenge for most families.
Publisher: Wiley
Date: 14-01-2015
Abstract: While autism spectrum disorder (ASD) and specific language impairment (SLI) have traditionally been conceptualized as distinct disorders, recent findings indicate that the boundaries between these two conditions are not clear-cut. While considerable research has investigated overlap in the linguistic characteristics of ASD and SLI, relatively less research has explored possible overlap in the socio-cognitive domain, particularly in terms of the emotion recognition abilities of these two groups of children. To investigate facial and vocal emotion recognition in children with ASD, children with SLI and typically developing (TD) children. To do so, the ASD group was sub ided into those with 'normal' (ALN) and those with 'impaired' (ALI) language to explore the extent to which language ability influenced performance on the emotion recognition task. Twenty-nine children with ASD (17 ALN and 12 ALI), 18 children with SLI and 66 TD children completed visual and auditory versions of an emotion recognition task. For the visual version of the task, the participants saw photographs of people expressing one of six emotions (happy, sad, scared, angry, surprised, disgusted) on the whole face. For the auditory modality, the participants heard a neutral sentence that conveyed one of the six emotional expressions in the tone of the voice. In both conditions, the children were required to indicate how the person they could see/hear was feeling by selecting a cartoon face that was presented on the computer screen. The results showed that all clinical groups were less accurate than the TD children when identifying emotions on the face and in the voice. While the ALN children were less accurate than the TD children only when identifying expressions that require inferring another's mental state (surprise, disgust) emotional expressions, the ALI and the SLI children were less accurate than the TD children when identifying the basic (happy, sad, scared, angry) as well as the inferred emotions. The results indicate that children with ALI and children with SLI share emotion recognition deficits, which are likely to be driven by the poor language abilities of these two groups.
Publisher: Springer Science and Business Media LLC
Date: 26-11-2018
Publisher: MDPI AG
Date: 06-12-2021
Abstract: Neurodevelopmental disorders are a heterogeneous group of conditions with overlapping symptomatology and fluctuating developmental trajectories that transcend current diagnostic categorisation. There is a need for validated screening instruments which dimensionally assess symptomatology from a holistic, transdiagnostic perspective. The primary aim is to co-design a Neurodevelopment Assessment Scale (NAS), a user-friendly transdiagnostic assessment inventory that systematically screens for all signs and symptoms commonly encountered in neurodevelopmental disorders. Our first objective is to undertake development of this tool, utilising co-design principles in partnership with stakeholders, including both those with lived experience of neurodevelopmental disorders and service providers. Our second objective is to evaluate the face validity, as well as the perceived utility, user-friendliness, suitability, and acceptability (i.e., ‘social validity’), of the NAS from the perspective of parents/caregivers and adults with neurodevelopmental disorders, clinicians, and service providers. Our third objective is to ascertain the psychometric properties of the NAS, including content validity and convergent validity. The NAS will provide an efficient transdiagnostic tool for evaluating all relevant signs, symptoms, and the dimensional constructs that underpin neurodevelopmental presentations. It is anticipated that this will maximise outcomes by enabling the delivery of personalised care tailored to an in idual’s unique profile in a holistic and efficient manner.
Publisher: American Medical Association (AMA)
Date: 16-06-2022
Publisher: American Speech Language Hearing Association
Date: 08-2014
DOI: 10.1044/2014_JSLHR-L-13-0186
Abstract: Although genetic factors are known to play a causal role in specific language impairment (SLI), environmental factors may also be important. This study examined whether there are prenatal, perinatal, and neonatal factors that are associated with childhood SLI. Participants were members of the Raine Study, a prospective cohort investigation of pregnant women and their offspring. Parent report indicated that 26 children had received a clinical diagnosis of SLI. Data from antenatal and birth medical records were compared between the children with SLI and typically developing comparison children ( N = 1,799). There were no statistically significant differences between the SLI and comparison groups in the in idual prenatal, perinatal, and neonatal factors examined. Aggregate risk scores were calculated for each period on the basis of factors known to be associated with neurodevelopmental disorder. There were no group differences in aggregate risk scores in the prenatal and perinatal periods. However, significantly more children in the SLI group (50%) compared with the comparison group (27.6%) experienced 2 or more risk factors during the neonatal period. The vast majority of prenatal, perinatal, and neonatal complications do not play a clear causal role in childhood SLI. However, poor neonatal health may signify increased risk for SLI. 0.23641/asha.14963601
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 22-01-2021
DOI: 10.1213/ANE.0000000000005389
Abstract: Exposure to surgery and anesthesia in early childhood has been found to be associated with an increased risk of behavioral deficits. While the US Food and Drug Administration (FDA) has warned against prenatal exposure to anesthetic drugs, little clinical evidence exists to support this recommendation. This study evaluates the association between prenatal exposure to general anesthesia due to maternal procedures during pregnancy and neuropsychological and behavioral outcome scores at age 10. This is an observational cohort study of children born in Perth, Western Australia, with 2 generations of participants contributing data to the Raine Study. In the Raine Study, the first generation (Gen1) are mothers enrolled during pregnancy, and the second generation (Gen2) are the children born to these mothers from 1989 to 1992 with neuropsychological and behavioral tests at age 10 (n=2024). In the primary analysis, 6 neuropsychological and behavioral tests were evaluated at age 10: Raven’s Colored Progressive Matrices (CPM), McCarron Assessment of Neuromuscular Development (MAND), Peabody Picture Vocabulary Test (PPVT), Symbol Digit Modality Test (SDMT) with written and oral scores, Clinical Evaluation of Language Fundamentals (CELF) with Expressive, Receptive, and Total language scores, and Child Behavior Checklist (CBCL) with Internalizing, Externalizing, and Total behavior scores. Outcome scores of children prenatally exposed to general anesthesia were compared to children without prenatal exposure using multivariable linear regression models adjusting for demographic and clinical covariates (sex, race, income, and maternal education, alcohol or tobacco use, and clinical diagnoses: diabetes, epilepsy, hypertension, psychiatric disorders, or thyroid dysfunction). Bonferroni adjustment was used for the 6 independent tests in the primary analysis, so a corrected P value .0083 ( P = .05 ided by 6 tests, or a 99.17% confidence interval [CI]) was required for statistical significance. Among 2024 children with available outcome scores, 22 (1.1%) were prenatally exposed to general anesthesia. Prenatally exposed children had higher CBCL Externalizing behavioral scores (score difference of 6.1 [99.17% CI, 0.2-12.0] P = .006) than unexposed children. Of 6 tests including 11 scores and subscores, only CBCL Externalizing behavioral scores remained significant after multiple comparisons adjustment with no significant differences found in any other score. Prenatal exposure to general anesthetics is associated with increased externalizing behavioral problems in childhood. However, given the limitations of this study and that avoiding necessary surgery during pregnancy can have significant detrimental effects on the mother and the child, further studies are needed before changes to clinical practice are made.
Publisher: Springer Science and Business Media LLC
Date: 12-2020
DOI: 10.1186/S13229-020-00399-2
Abstract: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which are more common in males. The ‘prenatal sex steroid’ hypothesis links excessive sex-steroid exposure during foetal life with the behavioural differences observed in ASD. However, the reason why sex steroid exposure may be excessive remains unclear. Epidemiological studies have identified several environmental risk factors associated with ASD, including developmental vitamin D (DVD) deficiency. We have demonstrated in an animal model that DVD-deficiency is associated with a hyper-inflammatory response in placentas from male but not female foetuses. Vitamin D also regulates the expression of several steroidogenic enzymes in vitro. Therefore using this animal model, we have examined whether DVD-deficiency leads to increased sex-steroid levels in both the maternal and foetal compartments. Female rats are fed a vitamin D deficient diet from 6 weeks before mating until tissue collection at embryonic day 18. We examined the levels of testosterone, androstenedione and corticosterone in maternal plasma, foetal brains and amniotic fluid. We further examined gene expressions of steroidogenic enzymes and DNA methylation of aromatase promoters in foetal brains as a potential molecular mechanism regulating testosterone expression. We show that DVD-deficiency increases testosterone levels in maternal blood. We also show elevated levels of testosterone and androstenedione in the amniotic fluid of female but not male DVD-deficient foetuses. Testosterone levels were also elevated in DVD-deficient male brains. Vitamin D, like other steroid-related hormones, regulates gene expression via methylation. Therefore we examined whether the significant elevation in testosterone in male brains was due to such a potential gene-silencing mechanism. We show that the promoter of aromatase was hyper-methylated compared to male controls. A reduction in aromatase, in addition to causing excessive testosterone, could also lead to a reduction in estradiol which was not examined here. This study is the first to show how an epidemiologically established environmental risk factor for ASD may selectively elevate testosterone in male embryonic brains. These findings provide further mechanistic support for the prenatal sex steroid theory of ASD.
Publisher: Wiley
Date: 22-08-2014
DOI: 10.1111/DMCN.12576
Publisher: Springer Science and Business Media LLC
Date: 27-04-2019
DOI: 10.1038/S41380-018-0049-X
Abstract: A number of genetic studies have identified rare protein-coding DNA variations associated with autism spectrum disorder (ASD), a neurodevelopmental disorder with significant genetic etiology and heterogeneity. In contrast, the contributions of functional, regulatory genetic variations that occur in the extensive non-protein-coding regions of the genome remain poorly understood. Here we developed a genome-wide analysis to identify the rare single nucleotide variants (SNVs) that occur in non-coding regions and determined the regulatory function and evolutionary conservation of these variants. Using publicly available datasets and computational predictions, we identified SNVs within putative regulatory regions in promoters, transcription factor binding sites, and microRNA genes and their target sites. Overall, we found that the regulatory variants in ASD cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment. As with previously reported coding mutations, we found an enrichment of the regulatory variants associated with dysregulation of neurodevelopmental and synaptic signaling pathways. Among these were several rare inherited SNVs found in the mature sequence of microRNAs predicted to affect the regulation of ASD-risk genes. We show a paternally inherited miR-873-5p variant with altered binding affinity for several risk-genes including NRXN2 and CNTNAP2 putatively overlay maternally inherited loss-of-function coding variations in NRXN1 and CNTNAP2 to likely increase the genetic liability in an idiopathic ASD case. Our analysis pipeline provides a new resource for identifying loss-of-function regulatory DNA variations that may contribute to the genetic etiology of complex disorders.
Publisher: Wiley
Date: 11-05-2020
DOI: 10.1002/AUR.2296
Publisher: American Speech Language Hearing Association
Date: 08-2010
DOI: 10.1044/1092-4388(2009/09-0078)
Abstract: Specific language impairment (SLI) is known to aggregate in families. Debate exists on whether the male sex presents an additional risk for SLI. This meta-analysis examined whether there is a sex ratio difference in the risk for impairment among family members of an SLI proband and whether this is mediated by assessment method (direct assessment via psychometric tests vs. indirect assessment via questionnaire/interview) or relative type (sibling vs. parent). Twelve studies met inclusion criteria, including 11 parent and 9 sibling s les. Risk ratios, indicating relative risk for language difficulties for males versus females, were calculated as a function of assessment method and relative type. Direct assessments identified a male predominance of language impairment, with a pooled risk ratio of 1.73 for siblings (95% confidence interval [CI]: 1.20–2.52) and 1.54 for parents (95% CI: 1.14–2.07). No sex differences were observed for studies using indirect testing methods, with mean risk ratios of 1.12 (0.85–1.48) and 1.17 (0.92–1.49) for sibling and parent s les, respectively. A predominance of affected males among family members is observed when using direct assessments only. This finding is interpreted with reference to the strengths and weaknesses of different assessment methodologies and what sex differences may indicate about the biological mechanisms underlying the SLI phenotype.
Publisher: The Royal Society
Date: 23-03-2022
Abstract: The broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity. Increased facial masculinity has been reported among autistic children, as well as their non-autistic siblings. The present study builds on our previous findings by investigating the presence of increased facial masculinity among non-autistic parents of autistic children. Using a previously established method, a ‘facial masculinity score’ and several facial distances were calculated for each three-dimensional facial image of 192 parents of autistic children (58 males, 134 females) and 163 age-matched parents of non-autistic children (50 males, 113 females). While controlling for facial area and age, significantly higher masculinity scores and larger (more masculine) facial distances were observed in parents of autistic children relative to the comparison group, with effect sizes ranging from small to medium (0.16 ≤ d ≤ .41), regardless of sex. These findings add to an accumulating evidence base that the broad autism phenotype is expressed in physical characteristics and suggest that both maternal and paternal pathways are implicated in masculinized facial morphology.
Publisher: Elsevier BV
Date: 11-2016
Publisher: Wiley
Date: 16-03-2017
DOI: 10.1002/AUR.1763
Abstract: This study explored the relationships between the later age of achievement of early motor milestones, current motor atypicalities (toe walking), and the severity of restricted and repetitive behaviors (RRBs) in in iduals with autism spectrum disorder (ASD). Parents of 147 children and adolescents with ASD (M
Publisher: Springer Science and Business Media LLC
Date: 10-10-2018
DOI: 10.1038/MP.2017.201
Abstract: Maternal immune activation has been highlighted as a factor that might increase the risk and severity of autism spectrum disorder (ASD) in children. Preclinical animal evidence shows that immune activation in mothers during pregnancy causes ASD-like behavioural traits in offspring. To this point, there has been no investigation of whether immune system activation in human mothers during pregnancy is associated with more severe symptoms in children with ASD. In this study, data from an existing ASD cohort (N=220) were analysed to investigate whether immune conditions in the mother were associated with greater severity of autism-related symptoms. Results showed that children whose mothers reported a history of immune activation (allergies and asthma) had significantly higher scores on the Social Responsiveness Scale (SRS P=0.016), suggesting more severe social impairment symptoms in these children. This increasing severity of social impairment symptoms was further shown on the SRS cognition (P=0.007) and mannerisms (P=0.002) subscales. While immune history was associated with an increase in the severity of social impairment symptoms, history of autoimmune conditions in the mother did not have any effect in this cohort. To the best of our knowledge, this study is the first to show an association between immune activation history in the mother and increased ASD symptom severity in children with ASD. These findings support the idea of an immune system-mediated subtype in ASD, where the immune history of the mother may be an important factor.
Publisher: Cold Spring Harbor Laboratory
Date: 05-06-2020
DOI: 10.1101/2020.06.04.20121061
Abstract: Substantial genetic correlations have been reported across psychiatric disorders and numerous cross-disorder genetic variants have been detected. To identify the genetic variants underlying general psychopathology in childhood, we performed a genome-wide association study using a total psychiatric problem score. We analyzed 6,844,199 common SNPs in 38,418 school-aged children from 20 population-based cohorts participating in the EArly Genetics and Lifecourse Epidemiology (EAGLE) consortium. The SNP heritability of total psychiatric problems was 5.4% (SE=0.01) and two loci reached genome-wide significance: rs10767094 and rs202005905. We also observed an association of SBF2 , a gene associated with neuroticism in previous GWAS, with total psychiatric problems. The genetic effects underlying the total psychiatric problem score were shared with known genetic variants for common psychiatric disorders only (attention-deficit/hyperactivity disorder, anxiety, depression, insomnia) (r G 0.49), but not with autism or the less common adult disorders (schizophrenia, bipolar disorder, or eating disorders) (r G 0.01). Importantly, the total psychiatric problem score also showed at least a moderate genetic correlation of with intelligence, educational attainment, wellbeing, smoking, and body fat (r G 0.29).The results suggest that many common genetic variants are associated with childhood psychiatric symptoms and related phenotypes in general instead of with specific symptoms. Further research is needed to establish causality and pleiotropic mechanisms between psychiatric disorders and related traits.
Publisher: Wiley
Date: 16-09-2021
DOI: 10.1002/AUR.2612
Abstract: Greater facial asymmetry has been consistently found in children with autism spectrum disorder (ASD) relative to children without ASD. There is substantial evidence that both facial structure and the recurrence of ASD diagnosis are highly heritable within a nuclear family. Furthermore, sub‐clinical levels of autistic‐like behavioural characteristics have also been reported in first‐degree relatives of in iduals with ASD, commonly known as the ‘broad autism phenotype’. Therefore, the aim of the current study was to examine whether a broad autism phenotype expresses as facial asymmetry among 192 biological parents of autistic in iduals (134 mothers) compared to those of 163 age‐matched adults without a family history of ASD (113 females). Using dense surface‐modelling techniques on three dimensional facial images, we found evidence for greater facial asymmetry in parents of autistic in iduals compared to age‐matched adults in the comparison group ( p = 0.046, d = 0.21 [0.002, 0.42]). Considering previous findings and the current results, we conclude that facial asymmetry expressed in the facial morphology of autistic children may be related to heritability factors. In a previous study, we showed that autistic children presented with greater facial asymmetry than non‐autistic children. In the current study, we examined the amount of facial asymmetry shown on three‐dimensional facial images of 192 parents of autistic children compared to a control group consisting of 163 similarly aged adults with no known history of autism. Although parents did show greater levels of facial asymmetry than those in the control group, this effect is statistically small. We concluded that the facial asymmetry previously found in autistic children may be related to genetic factors.
Publisher: Springer Science and Business Media LLC
Date: 20-02-2023
DOI: 10.1186/S13034-023-00565-3
Abstract: The identification of reproducible subtypes within autistic populations is a priority research area in the context of neurodevelopment, to pave the way for identification of biomarkers and targeted treatment recommendations. Few previous studies have considered medical comorbidity alongside behavioural, cognitive, and psychiatric data in subgrouping analyses. This study sought to determine whether differing behavioural, cognitive, medical, and psychiatric profiles could be used to distinguish subgroups of children on the autism spectrum in the Australian Autism Biobank (AAB). Latent profile analysis was used to identify subgroups of children on the autism spectrum within the AAB (n = 1151), utilising data on social communication profiles and restricted, repetitive, and stereotyped behaviours (RRBs), in addition to their cognitive, medical, and psychiatric profiles. Our study identified four subgroups of children on the autism spectrum with differing profiles of autism traits and associated comorbidities. Two subgroups had more severe clinical and cognitive phenotype, suggesting higher support needs. For the ‘Higher Support Needs with Prominent Language and Cognitive Challenges’ subgroup, social communication, language and cognitive challenges were prominent, with prominent sensory seeking behaviours. The ‘Higher Support Needs with Prominent Medical and Psychiatric and Comorbidity’ subgroup had the highest mean scores of challenges relating to social communication and RRBs, with the highest probability of medical and psychiatric comorbidity, and cognitive scores similar to the overall group mean. In iduals within the ‘Moderate Support Needs with Emotional Challenges’ subgroup, had moderate mean scores of core traits of autism, and the highest probability of depression and/or suicidality. A fourth subgroup contained in iduals with fewer challenges across domains (the ‘Fewer Support Needs Group’). Data utilised to identify subgroups within this study was cross-sectional as longitudinal data was not available. Our findings support the holistic appraisal of support needs for children on the autism spectrum, with assessment of the impact of co-occurring medical and psychiatric conditions in addition to core autism traits, adaptive functioning, and cognitive functioning. Replication of our analysis in other cohorts of children on the autism spectrum is warranted, to assess whether the subgroup structure we identified is applicable in a broader context beyond our specific dataset.
Publisher: Wiley
Date: 20-05-2013
DOI: 10.1111/JPC.12242
Abstract: Complementary and alternative medicine is widely used for children with autism spectrum disorder, despite uncertainty regarding efficacy. This review describes complementary and alternative practices commonly used among this population, the rationale for the use of each practice, as well as the side-effect profile and evidence for efficacy. The existing evidence base indicates that melatonin can be recommended as a treatment for sleeping disturbances associated with autism spectrum disorder, while secretin can be rejected as an efficacious treatment for broader autistic symptoms. There is insufficient evidence to draw conclusions on the efficacy of modified diets, hyperbaric oxygen therapy, immune therapy, and vitamin and fatty acid supplementation. There is a clear need for methodologically rigorous studies to provide evidence-based guidance to families and clinicians regarding complementary and alternative practices for in iduals with autism spectrum disorders.
Publisher: Wiley
Date: 18-11-2016
DOI: 10.1111/JCPP.12628
Abstract: Kung et al. (2016) contribute further evidence demonstrating no clear link between prenatal androgen exposure and the autism phenotype. Do these findings represent a nail in the coffin for the extreme male brain (EMB) theory of autism, or are we simply asking too much of the hypothesis? This commentary highlights the inconsistent findings that have appeared to undermine the EMB theory, but presents an argument that the data may not present an adequate test of the hypothesis. A research agenda is then outlined - the investigation of simple behavioural traits rather than the full combination of ASD behaviours - which may provide greater clarity as to how prenatal androgen exposure relates to developmental psychopathology.
Publisher: Springer Science and Business Media LLC
Date: 20-11-2019
DOI: 10.1007/S11136-018-2057-3
Abstract: Children with intellectual disability encounter daily challenges beyond those captured in current quality of life measures. This study evaluated a new parent-report measure for children with intellectual disability, the Quality of Life Inventory-Disability (QI-Disability). QI-Disability was administered to 253 primary caregivers of children (aged 5-18 years) with intellectual disability across four diagnostic groups: Rett syndrome, Down syndrome, cerebral palsy or autism spectrum disorder. Exploratory and confirmatory factor analyses were conducted and goodness of fit of the factor structure assessed. Associations between QI-Disability scores, and diagnostic and age groups were examined with linear regression. Six domains were identified: physical health, positive emotions, negative emotions, social interaction, leisure and the outdoors, and independence. Goodness-of-fit statistics were satisfactory and similar for the whole s le and when the s le was split by ability to walk or talk. On 100 point scales and compared to Rett syndrome, children with Down syndrome had higher leisure and the outdoors (coefficient 10.6, 95% CI 3.4,17.8) and independence (coefficient 29.7, 95% CI 22.9, 36.5) scores, whereas children with autism spectrum disorder had lower social interaction scores (coefficient - 12.8, 95% CI - 19.3, - 6.4). Scores for positive emotions (coefficient - 6.1, 95% CI - 10.7, - 1.6) and leisure and the outdoors (coefficient 5.4, 95% CI - 10.6, - 0.1) were lower for adolescents compared with children. Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability. It has the potential to allow clearer identification of support needs and measure responsiveness to interventions.
Publisher: Frontiers Media SA
Date: 25-08-2022
DOI: 10.3389/FPSYT.2022.926681
Abstract: This systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability (ID). Eligible were published prospective or retrospective comparative studies investigating risk factors for ID in children 4–18 years. Exclusions were single group studies with no comparator without ID and a s le size & . Electronic databases (Medline, Cochrane Library, EMBASE, PsycInfo, C bell Collaboration, and CINAHL) were searched for eligible publications from 1980 to 2020. Joanna Briggs Institute critical appraisal instruments, appropriate for study type, were used to assess study quality and risk of bias. Descriptive characteristics and in idual study results were presented followed by the synthesis for in idual risk factors, also assessed using GRADE. Fifty-eight in idual eligible studies were grouped into six exposure topics: sociodemographic antenatal and perinatal maternal physical health maternal mental health environmental genetic or biological studies. There were few eligible genetic studies. For half the topics, the certainty of evidence (GRADE) was moderate or high. Multiple studies have examined in idual potential determinants of ID, but few have investigated holistically to identify those populations most at risk. Our review would indicate that there are vulnerable groups where risk factors we identified, such as low socioeconomic status, minority ethnicity, teenage motherhood, maternal mental illness, and alcohol abuse, may cluster, highlighting a target for preventive strategies. At-risk populations need to be identified and monitored so that interventions can be implemented when appropriate, at preconception, during pregnancy, or after birth. This could reduce the likelihood of ID and provide optimal opportunities for vulnerable infants. [ www.crd.york.ac.uk rospero/display_record.php?RecordID=120032 ], identifier [CRD42019120032].
Publisher: Frontiers Media SA
Date: 29-09-2020
Publisher: Springer Science and Business Media LLC
Date: 03-06-2014
DOI: 10.1038/TP.2014.38
Publisher: Springer Science and Business Media LLC
Date: 10-02-2021
DOI: 10.1186/S13229-020-00407-5
Abstract: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre for Living with Autism (Autism CRC) to establish an Australian resource of biospecimens, phenotypes and genomic data for research on autism. Genome-wide single-nucleotide polymorphism genotypes were available for 2,477 in iduals (after quality control) from 546 families (436 complete), including 886 participants aged 2 to 17 years with diagnosed ( n = 871) or suspected ( n = 15) ASD, 218 siblings without ASD, 1,256 parents, and 117 unrelated children without an ASD diagnosis. The genetic data were used to confirm familial relationships and assign ancestry, which was majority European ( n = 1,964 European in iduals). We generated polygenic scores (PGS) for ASD, IQ, chronotype and height in the subset of Europeans, and in 3,490 unrelated ancestry-matched participants from the UK Biobank. We tested for group differences for each PGS, and performed prediction analyses for related phenotypes in the AAB. We called copy-number variants (CNVs) in all participants, and intersected these with high-confidence ASD- and intellectual disability (ID)-associated CNVs and genes from the public domain. The ASD ( p = 6.1e−13), sibling ( p = 4.9e−3) and unrelated ( p = 3.0e−3) groups had significantly higher ASD PGS than UK Biobank controls, whereas this was not the case for height—a control trait. The IQ PGS was a significant predictor of measured IQ in undiagnosed children ( r = 0.24, p = 2.1e−3) and parents ( r = 0.17, p = 8.0e−7 4.0% of variance), but not the ASD group. Chronotype PGS predicted sleep disturbances within the ASD group ( r = 0.13, p = 1.9e−3 1.3% of variance). In the CNV analysis, we identified 13 in iduals with CNVs overlapping ASD/ID-associated CNVs, and 12 with CNVs overlapping ASD/ID/developmental delay-associated genes identified on the basis of de novo variants. This dataset is modest in size, and the publicly-available genome-wide-association-study (GWAS) summary statistics used to calculate PGS for ASD and other traits are relatively underpowered. We report on common genetic variation and rare CNVs within the AAB. Prediction analyses using currently available GWAS summary statistics are largely consistent with expected relationships based on published studies. As the size of publicly-available GWAS summary statistics grows, the phenotypic depth of the AAB dataset will provide many opportunities for analyses of autism profiles and co-occurring conditions, including when integrated with other omics datasets generated from AAB biospecimens (blood, urine, stool, hair).
Publisher: Elsevier BV
Date: 06-2014
DOI: 10.1016/J.JAAC.2013.12.028
Abstract: Preschool internalizing problems (INT) are highly heritable and moderately genetically stable from childhood into adulthood. Gene-finding studies are scarce. In this study, the influence of genome-wide measured single nucleotide polymorphisms (SNPs) was investigated in 3 cohorts (total N = 4,596 children) in which INT was assessed with the same instrument, the Child Behavior Checklist (CBCL). First, genome-wide association (GWA) results were used for density estimation and genome-wide complex trait analysis (GCTA) to calculate the variance explained by all SNPs. Next, a fixed-effect inverse variance meta-analysis of the 3 GWA analyses was carried out. Finally, the overlap in results with prior GWA studies of childhood and adulthood psychiatric disorders and treatment responses was tested by examining whether SNPs associated with these traits jointly showed a significant signal for INT. Genome-wide SNPs explained 13% to 43% of the total variance. This indicates that the genetic architecture of INT mirrors the polygenic model underlying adult psychiatric traits. The meta-analysis did not yield a genome-wide significant signal but was suggestive for the PCSK2 gene located on chromosome 20p12.1. SNPs associated with other psychiatric disorders appeared to be enriched for signals with INT (λ = 1.26, p < .03). Our study provides evidence that INT is influenced by many common genetic variants, each with a very small effect, and that, even as early as age 3, genetic variants influencing INT overlap with variants that play a role in childhood and adulthood psychiatric disorders.
Publisher: Wiley
Date: 24-04-2017
DOI: 10.1111/COA.12652
Abstract: To examine the long-term effects of predominant breastfeeding on incidence of otitis media. Prospective birth cohort study. The West Australian Pregnancy Cohort (Raine) Study recruited 2900 mothers through antenatal clinics at the major tertiary obstetric hospital in Perth, Western Australia, between 1989 and 1992. In total, 2237 children participated in a 6-year cohort follow-up, and a subset of 1344 were given ear and hearing assessments. OM diagnosis at 6 years of age (diagnosed by low-compliance tympanograms, 0-0.1 mmho). This was compared to OM diagnosed at the 3-year cohort follow-up using parent-report measures. Main exposure measures were duration of predominant breastfeeding (defined as the age other milk was introduced) and duration of partial (any) breastfeeding (defined as the age breastfeeding was stopped). There was a significant, independent association between predominant breastfeeding (OR = 1.33 [1.04, 1.69] P = 0.02) and OM, and breastfeeding duration (OR = 1.35 [1.08, 1.68] P = 0.01) with OM at 3 years of age. However, at 6 years of age, this relationship was no longer statistically significant (predominant breastfeeding OR = 0.78 [0.48, 1.06] P = 0.09 duration of breastfeeding, OR = 1.34 [0.81, 2.23] P = 0.25). Our findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood. However, the long-term follow-up of these children revealed that by 6 years of age, there was no significant influence of breastfeeding on presence of OM. These results suggest that the protective effect of predominant breastfeeding for at least 6 months does not extend to school-age children, where other social and environmental factors may be stronger predictors of OM.
Publisher: MDPI AG
Date: 28-10-2022
Abstract: A diagnosis of an autism spectrum condition (autism) provides limited information regarding an in idual’s level of functioning, information key in determining support and funding needs. Using the framework introduced by Arksey and O’Malley, this scoping review aimed to identify measures of functioning suitable for school-aged children on the autism spectrum and evaluate their overall utility, including content validity against the International Classification of Functioning, Disability and Health (ICF) and the ICF Core Sets for Autism. The overall utility of the 13 included tools was determined using the Outcome Measures Rating Form (OMRF), with the Adaptive Behavior Assessment System (ABAS-3) receiving the highest overall utility rating. Content validity of the tools in relation to the ICF and ICF Core Sets for Autism varied, with few assessment tools including any items linking to Environmental Factors of the ICF. The ABAS-3 had the greatest total number of codes linking to the Comprehensive ICF Core Set for Autism while the Vineland Adaptive Behavior Scales (Vineland-3) had the greatest number of unique codes linking to both the Comprehensive ICF Core Set for Autism and the Brief ICF Core Set for Autism (6–16 years). Measuring functioning of school-aged children on the spectrum can be challenging, however, it is important to accurately capture their abilities to ensure equitable and in idualised access to funding and supports.
Publisher: Wiley
Date: 24-09-2023
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 12-2014
Publisher: Elsevier BV
Date: 07-2009
Publisher: Wiley
Date: 22-11-2013
DOI: 10.1111/AJO.12012
Abstract: Advances in obstetric care have been accompanied by increasing rates of intervention which often involve elective delivery at 37 weeks, soon after term gestation has been achieved. The aim of this study was to examine the behavioural sequelae for children born at this early term gestational age compared with those born at later weeks. The Western Australian Pregnancy Cohort (Raine) Study provided comprehensive obstetric data from 2900 pregnancies. Offspring were followed up at ages two, five, eight, 10, 14 and 17 years using the parent report Child Behaviour Checklist (CBCL) with clinical cutoffs for overall, internalising (withdrawn, somatic complaints, anxious/depressed) and externalising (delinquent, aggressive) behaviour (T-score ≥ 60). We used longitudinal logistic regression models incorporating generalised estimating equations (GEE) with step-wise adjustment for ante-, peri- and postnatal confounding factors. Approximately 9% of our cohort was born within the range of 37(0/7) and 37(6/7) weeks. Those born at 37 weeks' gestation were at increased risk for overall (OR = 1.43, 95% CI = 1.02, 2.01) and externalising (OR = 1.42, 95% CI = 1.01, 2.01) behavioural problems in the fully adjusted model when compared with infants born from 39 weeks onwards. Infants born late preterm (34-36 weeks) and at 38 weeks did not show a significantly increased risk for behavioural problems. Infants born at 37 weeks' gestation are at increased risk for behavioural problems over childhood and adolescence compared with those born later in gestation. We suggest that 37 weeks' gestation may not be the optimal cutoff for defining perinatal risk as it applies to behavioural development.
Publisher: Wiley
Date: 12-11-2013
DOI: 10.1016/J.ADOLESCENCE.2013.10.006
Abstract: Prospective longitudinal birth cohort data was used to examine the association between peer aggression at 14 years and mental health and substance use at 17 years. A s le of 1590 participants from the Western Australian Pregnancy Cohort (Raine) study were ided into mutually exclusive categories (victims, perpetrators, victim‐perpetrators and uninvolved). Involvement in any type of peer aggression as a victim (10.1%), perpetrator (21.4%), or a victim‐perpetrator (8.7%) was reported by 40.2% of participants. After adjusting for confounding factors, those who were a victim of peer aggression had increased odds of later depression and internalising symptoms whilst perpetrators of peer aggression were found to be at increased risk of depression and harmful alcohol use. Victim‐perpetrators of peer aggression were more likely to have externalising behaviours at 17 years. These results show an independent temporal relationship between peer aggression and later mental health and substance use problems in adolescence.
Publisher: Elsevier BV
Date: 03-1999
Publisher: American Speech Language Hearing Association
Date: 08-08-2018
DOI: 10.1044/2018_JSLHR-L-17-0210
Abstract: The current study aimed to compare traditional logistic regression models with machine learning algorithms to investigate the predictive ability of (a) communication performance at 3 years old on language outcomes at 10 years old and (b) broader developmental skills (motor, social, and adaptive) at 3 years old on language outcomes at 10 years old. Participants ( N = 1,322) were drawn from the Western Australian Pregnancy Cohort (Raine) Study (Straker et al., 2017). A general developmental screener, the Infant Monitoring Questionnaire (Squires, Bricker, & Potter, 1990), was completed by caregivers at the 3-year follow-up. Language ability at 10 years old was assessed using the Clinical Evaluation of Language Fundamentals–Third Edition (Semel, Wiig, & Secord, 1995). Logistic regression models and interpretable machine learning algorithms were used to assess predictive abilities of early developmental milestones for later language outcomes. Overall, the findings showed that prediction accuracies were comparable between logistic regression and machine learning models using communication-only performance as well as performance on communication and broader developmental domains to predict language performance at 10 years old. Decision trees are incorporated to visually present these findings but must be interpreted with caution because of the poor accuracy of the models overall. The current study provides preliminary evidence that machine learning algorithms provide equivalent predictive accuracy to traditional methods. Furthermore, the inclusion of broader developmental skills did not improve predictive capability. Assessment of language at more than 1 time point is necessary to ensure children whose language delays emerge later are identified and supported. 0.23641/asha.6879719
Publisher: Springer Science and Business Media LLC
Date: 29-03-2012
DOI: 10.1007/S10803-012-1526-8
Abstract: An existing randomised controlled trial was used to investigate whether multiple ultrasound scans may be associated with the autism phenotype. From 2,834 single pregnancies, 1,415 were selected at random to receive ultrasound imaging and continuous wave Doppler flow studies at five points throughout pregnancy (Intensive) and 1,419 to receive a single imaging scan at 18 weeks (Regular), with further scans only as indicated on clinical grounds. There was no significant difference in the rate of Autism Spectrum Disorder between the Regular (9/1,125, 0.8 %) and Intensive (7/1,167, 0.6 %) groups, nor a difference between groups in the level of autistic-like traits in early adulthood. There is no clear link between the frequency and timing of prenatal ultrasound scans and the autism phenotype.
Publisher: Wiley
Date: 10-01-2019
DOI: 10.1002/AUR.2067
Abstract: Reduced social attention is a hallmark feature in autism spectrum disorder (ASD), emerging as early as the first year of life. This difference represents a possible mechanism impacting upon the development of more complex social-communicative behaviors. The aim of this study was to develop and test the efficacy of a novel attention bias modification paradigm to alter social attention, specifically orienting to faces. Children with ASD (n = 66), aged between 5 and 12 years, were randomized to play either a social attention training or control game for 15 min. Children playing the training game were reinforced for attending to and engaging with social characters, whereas children in the control group were equally rewarded for attending to both social and non-social characters. Eye-tracking measures were obtained before and after gameplay. There was a significant increase in the percentage of first fixations to faces, relative to objects, after social attention training compared to a control group, associated with a medium effect size (partial η = 0.15). The degree of social attention change in the training group was inversely associated with restricted and repetitive behaviors and moderated by comorbid attention deficit hyperactivity disorder diagnoses, suggestive of differential training effects based on in idual symptom profiles. By using the principles of attention bias modification, we demonstrated that social attention can be acutely modified in children with ASD, with an increased tendency to orient attention toward faces after brief social attention training. Modifying attentional biases may therefore represent a potential novel mechanism to alter the development of social communication trajectories. Autism Res 2019, 12: 527-535 © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Some children with autism spectrum disorder (ASD) do not look at faces or eyes as much as their non-ASD peers do. Using a game where players have to pay attention to characters with faces to score points, we found that children playing the game began to look more at faces, even outside of the game. Looking at faces is an important prerequisite to many social interactions, telling us about others' emotions and states of attention-things that become harder to understand when they are not seen. If children with ASD could use games to help train looking at faces in real life, then they may be in a better position to understand and participate in social exchanges.
Publisher: Wiley
Date: 12-2023
DOI: 10.1002/AUR.2863
Abstract: A broad range of interests characterized by unusual content and/or intensity, labeled as circumscribed interests (CI), are a core diagnostic feature of autism. Recent evidence suggests that a distinction can be drawn between interests that, although characterized by unusually high intensity and/or inflexibility, are otherwise common in terms of their content (e.g., an interest in movies or animals), labeled as restricted interests (RI), and interests that are generally not salient outside of autism (e.g., an interest in traffic lights or categorization), labeled as unusual interests (UI). The current study aimed to further characterize RI and UI by exploring their association with age, sex, IQ, and social motivation, as well as to examine differences in the adaptive benefits and negative impacts of these two subdomains. Parents of 1892 autistic children and adolescents ( M age = 10.82, SD age = 4.14 420 females) completed an online survey including the Dimensional Assessment of Restricted and Repetitive Behaviors and the Social Communication Questionnaire. Both RI and UI were found to be highly frequent. Sex‐based differences were observed in the content, but not intensity, of CI such that females were more likely to show interests with a social component. Finally, RI and UI showed distinct patterns of association with age, sex, IQ, and social motivation, as well as metrics of adaptive benefits and negative impacts. Findings afford a more nuanced understanding of sex‐based differences in CI and, crucially, provide preliminary evidence that RI and UI represent distinct constructs that should be studied independently in future research.
Publisher: Springer Science and Business Media LLC
Date: 15-05-2013
DOI: 10.1007/S10803-013-1847-2
Abstract: Findings that a subgroup of children with an autism spectrum disorder (ASD) have linguistic capabilities that resemble specific language impairment (SLI) have led some authors to hypothesise that ASD and SLI have a shared aetiology. While considerable research has explored overlap in the language phenotypes of the two conditions, little research has examined possible overlap in cognitive characteristics. In this study, we explored nonword and sentence repetition performance, as well as performance on the Children's Embedded Figures Test (CEFT) for children with ASD or SLI. As expected, 'language impaired' children with ASD (ALI) and children with SLI performed worse than both 'language normal' ASD (ALN) and typically developing (TD) children on the nonword and sentence repetition tests. Further, the SLI children performed worse than all other groups on the CEFT. This finding supports distinct cognitive profiles in ASD and SLI and may provide further evidence for distinct aetiological mechanisms in the two conditions.
Publisher: Public Library of Science (PLoS)
Date: 30-03-2011
Publisher: Wiley
Date: 28-06-2008
DOI: 10.1111/J.1467-7687.2008.00697.X
Abstract: Autism is a disorder characterized by a core impairment in social behaviour. A prominent component of this social deficit is poor orienting to speech. It is unclear whether this deficit involves an impairment in allocating attention to speech sounds, or a sensory impairment in processing phonetic information. In this study, event-related potentials of 15 children with high functioning autism (mean nonverbal IQ = 109.87) and 15 typically developing children (mean nonverbal IQ = 115.73) were recorded in response to sounds in two oddball conditions. Participants heard two stimulus types: vowels and complex tones. In each condition, repetitive 'standard' sounds (condition 1: vowel condition 2: complex tone) were replaced by a within stimulus-type 'deviant' sound and a between stimulus-type 'novel' sound. Participants' level of attention was also varied between conditions. Children with autism had significantly diminished obligatory components in response to the repetitive speech sound, but not to the repetitive nonspeech sound. This difference disappeared when participants were required to allocate attention to the sound stream. Furthermore, the children with autism showed reduced orienting to novel tones presented in a sequence of speech sounds, but not to novel speech sounds presented in a sequence of tones. These findings indicate that high functioning children with autism can allocate attention to novel speech sounds. However, they use top-down inhibition to attenuate responses to repeated streams of speech. This suggests that problems with speech processing in this population involve efferent pathways.
Publisher: Springer Science and Business Media LLC
Date: 04-02-2022
DOI: 10.1007/S10803-022-05443-Z
Abstract: Reduced eye contact early in life may play a role in the developmental pathways that culminate in a diagnosis of autism spectrum disorder. However, there are contradictory theories regarding the neural mechanisms involved. According to the amygdala theory of autism, reduced eye contact results from a hypoactive amygdala that fails to flag eyes as salient. However, the eye avoidance hypothesis proposes the opposite-that amygdala hyperactivity causes eye avoidance. This review evaluated studies that measured the relationship between eye gaze and activity in the 'social brain' when viewing facial stimuli. Of the reviewed studies, eight of eleven supported the eye avoidance hypothesis. These results suggest eye avoidance may be used to reduce amygdala-related hyperarousal among people on the autism spectrum.
Publisher: Frontiers Media SA
Date: 2011
Publisher: Springer Science and Business Media LLC
Date: 07-03-2022
DOI: 10.1007/S10803-022-05488-0
Abstract: Autism and attention-deficit/hyperactivity disorder (ADHD) often co-occur. This survey of 288 New Zealand parents of children diagnosed with autism (n = 111), ADHD (n = 93), or both conditions (n = 84), examined the relations between age of diagnosis and early atypical development, the age specialist consultation was needed and types of specialists seen. Co-occurring autism and ADHD was associated with an earlier ADHD diagnosis and a later autism diagnosis. Parents of children with both diagnoses reported less atypical development in language and social behaviours compared to parents of children of autism, and this co-occurring group also experienced longer wait times to diagnosis, and saw more types of specialists prior to a diagnosis, than those with autism.
Publisher: Wiley
Date: 02-04-2018
DOI: 10.1111/COA.13094
Abstract: To examine the relationship between early life episodes of otitis media and later behavioural development with adjustment for confounders. Longitudinal cohort study. The Western Australian Pregnancy Cohort (Raine) Study recruited 2900 pregnant women from King Edward Memorial Hospital ( KEMH ) in Perth, Western Australia, between 1989 and 1991. Data from the children born were collected at both the Year 3 and Year 5 follow‐up. At Year 3, n = 611 were diagnosed with recurrent otitis media through parent‐report and clinical examination. At Year 5, n = 299 were considered exposed to otitis media based upon tympanometry results. Performance in the Child Behaviour Checklist ( CBCL ), a questionnaire completed by the primary caregiver at Year 10. Significant associations were found between recurrent otitis media at Year 3 and internalising behaviours ( P = .011), and the somatic ( P = .011), withdrawn ( P = .014), attention ( P = .003) and thought problems domains ( P = .021), and the total CBCL score ( P = .010). A significant association was also found between exposure to otitis media at Year 5 and externalising behaviours ( P = .026). A modest association was seen between recurrent otitis media at Year 3 and exposure to otitis media at Year 5 and a number of behaviour domains at Year 10.
Publisher: Springer Science and Business Media LLC
Date: 16-01-2020
DOI: 10.1038/S41398-020-0695-Z
Abstract: Autism spectrum disorder is a heritable neurodevelopmental condition diagnosed based on social and communication differences. There is strong evidence that cognitive and behavioural changes associated with clinical autism aggregate with biological relatives but in milder form, commonly referred to as the ‘broad autism phenotype’. The present study builds on our previous findings of increased facial masculinity in autistic children (Sci. Rep., 7:9348, 2017) by examining whether facial masculinity represents as a broad autism phenotype in 55 non-autistic siblings (25 girls) of autistic children. Using 3D facial photogrammetry and age-matched control groups of children without a family history of ASD, we found that facial features of male siblings were more masculine than those of male controls ( n = 69 p 0.001, d = 0.81 [0.36, 1.26]). Facial features of female siblings were also more masculine than the features of female controls ( n = 60 p = 0.005, d = 0.63 [0.16, 1.10]). Overall, we demonstrated for males and females that facial masculinity in non-autistic siblings is increased compared to same-sex comparison groups. These data provide the first evidence for a broad autism phenotype expressed in a physical characteristic, which has wider implications for our understanding of the interplay between physical and cognitive development in humans.
Publisher: Wiley
Date: 28-04-2012
DOI: 10.1002/BRB3.56
Publisher: Springer Science and Business Media LLC
Date: 29-11-2022
DOI: 10.1038/S41398-022-02250-Z
Abstract: Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)–GWAS. The approach was applied to a Toronto RD s le and a meta-analysis of the GenLang Consortium. For the Toronto s le ( n = 624), no SNPs reached significance however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold ( p ~1.45 × 10 –2 , threshold = 2.5 × 10 –2 ). For the GenLang Cohort ( n = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10 –2 ). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to s les selected for reading/language deficits ( n = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3 - C21orf91 for both hypotheses (sFDR q 9.00 × 10 –4 ). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto s le suggesting that ascertainment influences genetic associations.
Publisher: Springer Science and Business Media LLC
Date: 28-11-2015
DOI: 10.1007/S00787-014-0651-7
Abstract: The prenatal period is recognised as a critical period for later behavioural development. This study aimed to elucidate how an adverse prenatal environment, as defined by the presence of a number of known prenatal risk factors, would influence mental health trajectories in children to 14 years of age. The Raine Study provided comprehensive data from 2,900 pregnancies. Offspring were followed up at ages 2, 5, 8, 10, and 14 years using the Child Behaviour Checklist (CBCL). We used linear mixed regression models with random intercept and slope (random effects models) to examine the extent to which the predictor variables considered influenced changes in continuous CBCL total, internalising, and externalising T scores from ages 2 to 14. In the final multivariate models, increased offspring CBCL T scores were significantly predicted by the mother not finishing high school, smoking during pregnancy, having a total family income below the poverty line, being diagnosed with gestational hypertension and experiencing stressful life events during pregnancy. Conversely, as maternal age increased, CBCL T scores were significantly decreased. Child age also significantly interacted with maternal education, total family income, and maternal stressful life events, such that these variables predicted increases in CBCL scores from age 2 to age 10, and from age 2 to age 14 years. In the Raine Study s le, children who experienced adverse prenatal environments experienced increased levels of problem behaviours in childhood, and more problematic mental health trajectories. Maternal health risk behaviours and other psychosocial variables more commonly affected child behaviour than obstetric complications.
Publisher: American Academy of Pediatrics (AAP)
Date: 03-2012
Abstract: To determine the association between maternal serum 25(OH)-vitamin D concentrations during a critical window of fetal neurodevelopment and behavioral, emotional, and language outcomes of offspring. Serum 25(OH)-vitamin D concentrations of 743 Caucasian women in Perth, Western Australia (32°S) were measured at 18 weeks pregnancy and grouped into quartiles. Offspring behavior was measured with the Child Behavior Checklist at 2, 5, 8, 10, 14, and 17 years of age (n range = 412–652). Receptive language was assessed with the Peabody Picture Vocabulary Test—Revised at ages 5 (n = 534) and 10 (n = 474) years. Raw scores were converted to standardized scores, incorporating cutoffs for clinically significant levels of difficulty. χ2 analyses revealed no significant associations between maternal 25(OH)-vitamin D serum quartiles and offspring behavioral/emotional problems at any age. In contrast, there were significant linear trends between quartiles of maternal vitamin D levels and language impairment at 5 and 10 years of age. Multivariate regression analyses, incorporating a range of confounding variables, found that the risk of women with vitamin D insufficiency (≤46 nmol/L) during pregnancy having a child with clinically significant language difficulties was increased close to twofold compared with women with vitamin D levels & nmol/L. Maternal vitamin D insufficiency during pregnancy is significantly associated with offspring language impairment. Maternal vitamin D supplementation during pregnancy may reduce the risk of developmental language difficulties among their children.
Publisher: Springer Science and Business Media LLC
Date: 05-01-2023
Publisher: Wiley
Date: 21-03-2011
DOI: 10.1111/J.1469-8749.2011.03915.X
Abstract: The aim of this study was to determine whether gastrointestinal problems in early childhood relate to autistic-like traits in a general population s le. The parents of 804 children (442 females 362 males) reported at 1-, 2-, 3-, and 5-year follow-ups whether their child had been taken to a hospital, general practitioner, or health clinic for any of five gastrointestinal symptoms: (1) constipation (2) diarrhoea (3) abdominal bloating, discomfort, or irritability (4) gastro-oesophageal reflux or vomiting and (5) feeding issues or food selectivity. Parents also reported whether their child had received the measles, mumps, and rubella vaccination. Autistic-like traits were measured when the children had reached early adulthood (mean age 19 y 7 mo SD 0.63 y) using a self-report questionnaire, the Autism Spectrum Quotient (AQ). There was no statistically significant difference in AQ scores between those who had (n=133) and those who had not (n=671) experienced early gastrointestinal symptoms. χ(2) analyses revealed that the children with early gastrointestinal problems were no more likely to be represented in the upper quintile of scores on any of the AQ scales. The measles, mumps, and rubella vaccination was unrelated to gastrointestinal symptoms or AQ scores. Parent-reported gastrointestinal problems in early childhood are unrelated to self-reported autistic-like traits in the general population.
Publisher: Elsevier BV
Date: 02-2013
DOI: 10.1016/J.BIOPSYCHO.2012.10.016
Abstract: Prenatal exposure to testosterone is known to affect fetal brain maturation and later neurocognitive function. However, research on the effects of prenatal testosterone exposure has been limited by indirect measures of testosterone and small unrepresentative s les. This study investigated whether bioavailable testosterone (BioT) concentrations in umbilical cord blood are associated with expressive vocabulary development, in a large birth cohort. Cord blood s les were taken immediately after delivery and expressive vocabulary was measured at two years of age using the language development survey (LDS). BioT concentration significantly predicted vocabulary size in males (n=197), such that higher concentrations were associated with lower LDS scores, indicating smaller vocabulary. This relationship between BioT concentrations and vocabulary at aged 2 years was not observed in girls (n=176). Higher circulating prenatal testosterone concentrations at birth may be associated with reduced vocabulary in early childhood among boys.
Publisher: Elsevier BV
Date: 09-2019
Publisher: SAGE Publications
Date: 04-08-2021
DOI: 10.1177/13623613211019162
Abstract: Naturalistic developmental behavioural interventions are promising approaches for young children with, or suspected of having, autism spectrum disorder. Joint attention, symbolic play, engagement and regulation intervention (JASPER) is a well-researched naturalistic developmental behavioural intervention but, to date, no reviews have specifically evaluated its effects. This systematic literature review examined the effects of JASPER intervention and its components on child, parent and educator outcomes. Of the 96 articles screened, 19 were eligible for inclusion in the review. Most studies found that children who received JASPER intervention showed significantly greater improvements in at least one outcome related to child joint attention, joint engagement, play skills and language skills compared to the comparison group. Implementation outcomes for parents and educators were generally positive. There were no consistent predictors or mediators of treatment effects. None of the studies met all of the quality indicators outlined by the Council of Exceptional Children, and the majority of outcome measures were classified as proximal. Overall, JASPER intervention appears promising in improving child outcomes directly targeted during treatment. More research is needed to determine whether it is also effective in improving a wider range of outcomes for children with autism spectrum disorder. Lay abstract Interventions which are delivered in natural contexts and use both developmental and behavioural techniques may be helpful for children with, or suspected of having, autism spectrum disorder. Joint attention, symbolic play, engagement and regulation (JASPER) is a type of intervention, which falls under this category. Although several studies have examined the effects of JASPER, this has not yet been summarised in a review. This systematic literature review examined the effects of JASPER intervention, and the techniques that make up JASPER, on child, parent and educator outcomes. We screened 96 articles and, of these, 19 were included in the review. Most studies found that children who received JASPER intervention showed significantly greater improvements in at least one outcome related to child joint attention, joint engagement, play skills, and language skills compared to children who did not receive JASPER intervention. Parents and educators were mostly able to use the JASPER techniques. There were no consistent child, parent, teacher or treatment characteristics that influenced the effects of the JASPER intervention. None of the studies met all of the indicators of being a good quality study outlined by the Council of Exceptional Children. Overall, JASPER intervention appears promising in improving child outcomes directly targeted during treatment. More research is needed to determine whether it is also effective in improving a wider range of outcomes for children with autism spectrum disorder.
Publisher: Wiley
Date: 03-08-2022
DOI: 10.1111/JPC.16149
Abstract: This study sought to determine the prevalence of Developmental Language Disorder (DLD) in Australian school‐aged children and associated potential risk factors for DLD at 10 years. This study used a cross‐sectional design to estimate the prevalence of DLD in Generation 2 of the prospective Raine Study. Participants included 1626 children aged 10 years with available language data. Primary outcomes included variables matching diagnostic criteria for DLD. Associations of other potential prenatal and environmental variables were analysed as secondary outcomes. The prevalence of DLD in this s le was 6.4% ( n = 104) at 10 years. This sub‐cohort comprised 33.7% ( n = 35) with expressive language deficits, 20.2% ( n = 21) with receptive language deficits, and 46.2% ( n = 48) with receptive‐expressive deficits. No significant difference in sex distribution was observed (52.9% male, p = 0.799). Children who were exposed to smoke in utero at 18 weeks gestation were at increased risk of DLD at 10 years (OR = 2.56, CI = 1.23–5.35, p = 0.012). DLD is a relatively prevalent condition in Australian children, even when assessed in middle childhood years. These findings can inform future research priorities, and public health and educational policy which account for the associations with potential risk factors.
Publisher: Springer Science and Business Media LLC
Date: 27-08-2018
Publisher: Wiley
Date: 11-2006
Publisher: Wiley
Date: 22-04-2014
DOI: 10.1002/JBMR.2138
Abstract: It is uncertain whether the vitamin D status of pregnant women influences bone mass of their children. Cohort studies have yielded conflicting results none have examined offspring at skeletal maturity. This longitudinal, prospective study investigated the association between maternal vitamin D status and peak bone mass of offspring in 341 mother and offspring pairs in the Western Australian Pregnancy Cohort (Raine) Study. Maternal serum s les collected at 18 weeks gestation were assayed for 25-hydroxyvitamin D (25OHD). Outcomes were total body bone mineral content (BMC) and bone mineral density (BMD) measured by dual-energy X-ray absorptiometry in offspring at 20 years of age. The mean (± SD) maternal serum 25OHD concentration was 57.2 ± 19.2 nmol/L 132 women (38.7%) were vitamin D-deficient (25OHD <50 nmol/L). After adjustment for season of s le collection, maternal factors, and offspring factors (sex, birth weight, and age, height, lean mass, and fat mass at 20 years), maternal 25OHD concentration was positively associated with total body BMC and BMD in offspring, with a mean difference of 19.2 (95% confidence interval [CI], 5.6-32.7) g for BMC and 4.6 (95% CI, 0.1-9.1) mg/cm(2) for BMD per 10.0 nmol/L of maternal 25OHD. Maternal vitamin D deficiency was associated with 2.7% lower total body BMC (mean ± SE) (2846 ± 20 versus 2924 ± 16 g, p = 0.004) and 1.7% lower total body BMD (1053 ± 7 versus 1071 ± 5 mg/cm(2) , p = 0.043) in the offspring. We conclude that vitamin D deficiency in pregnant women is associated with lower peak bone mass in their children. This may increase fracture risk in the offspring in later life.
Publisher: Informa UK Limited
Date: 07-09-2022
Publisher: Elsevier BV
Date: 12-2021
Publisher: MDPI AG
Date: 24-11-2022
Abstract: With increasing demands for health, disability and education services, innovative approaches can help distribute limited resources according to need. Despite an increased focus on support needs within the clinical pathway and policy landscape, the body of research knowledge on this topic is at a relatively early stage. However, there appears to be a sense of unmet support needs and dissatisfaction with the provision of required support following an autism diagnosis amongst caregivers of young people on the spectrum. The primary aim of this study was to explore the perceived support needs of Australian school-aged young people on the spectrum and their caregiver(s). This was achieved using a phenomenographic Support Needs Interview conducted by occupational therapists during home-visits with caregivers of 68 young people on the spectrum (5–17 years). Qualitative data analysis resulted in two hierarchical outcome spaces, one each for young people and their caregivers, indicating interacting levels of support need areas that could be addressed through a combination of suggested supports. These support needs and suggested supports align with almost all chapters within the Body Functions, Activities and Participation and Environmental Factors domains of the International Classification of Functioning, Disability and Health. The overall goals of meeting these complex and interacting support needs were for the young people to optimize their functioning to reach their potential and for caregivers to ensure the sustainability of their caregiving capacity. A series of recommendations for support services, researchers and policy makers have been made to position support needs as central during the assessment, support and evaluation phases.
Publisher: Elsevier BV
Date: 12-2020
Publisher: Wiley
Date: 11-07-2023
DOI: 10.1111/CAMH.12666
Abstract: The broadening of the clinical definition of autism over time—the so‐called, autism spectrum—has run in parallel with the growth of a neuro ersity movement that has reframed the concept of autism entirely. Without a coherent and evidence‐based framework through which both of these advances can be situated, the field is at risk of losing definition altogether. In his commentary, Green describes such a framework, which has appeal because of its grounding in basic and clinical evidence, and its ability to guide its users through its real‐world application in health care. An endless spectrum creates barriers to autistic children having their human rights met, but a denial of neuro ersity principles has the same effect. Green's framework holds great promise in coherently framing this sentiment. The real test of the framework is in its implementation, and all communities should walk that path together.
Publisher: Elsevier BV
Date: 07-2023
Publisher: Elsevier BV
Date: 05-2023
Publisher: Elsevier BV
Date: 02-2015
DOI: 10.1016/J.EARLHUMDEV.2014.12.011
Abstract: Ratio of second digit length to fourth digit length (2D:4D) has been extensively used in human and experimental research as a marker of fetal sex steroid exposure. However, very few human studies have measured the direct relationship between fetal androgen or estrogen concentrations and digit ratio. We investigated the relationships between both androgen and estrogen concentrations in umbilical cord blood and digit ratio in young adulthood. In addition we calculated measures of total serum androgen and total estrogen bioactivity and investigated their relationship to digit ratio. Prospective cohort study. An unselected subset of the Western Australian Pregnancy Cohort (Raine) Study (159 female 182 male). Cord serum s les were collected immediately after delivery. S les were assayed for androgen (testosterone, Δ4-androstenedione, dehydroepiandrosterone) and estrogen (estrone, estradiol, estriol, estetrol) concentrations using liquid-chromatography mass-spectrometry. Digit ratio measurements were taken from hand photocopies at age 19-22years. For both males and females, there were no significant correlations between digit ratio and any androgen or estrogen concentrations considered in idually, the testosterone to estradiol ratio, total androgen bioactivity measure or ratio of androgen to estrogen bioactivity (all p>.05). In males, but not females, total estrogen bioactivity was negatively correlated with left hand digit ratio (r=-.172, p=.02), but this relationship was no longer significant when adjusted for variables known to affect sex steroid concentrations in cord blood. Our findings indicate that digit ratio is not related to fetal androgens or estrogens at late gestation.
Publisher: Frontiers Media SA
Date: 23-01-2019
Publisher: Proceedings of the National Academy of Sciences
Date: 23-08-2022
Abstract: The use of spoken and written language is a fundamental human capacity. In idual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed in idually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in s les of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10 −8 ) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.
Publisher: Springer Science and Business Media LLC
Date: 16-09-2014
DOI: 10.1038/NCOMMS5831
Abstract: Twin studies suggest that expressive vocabulary at ~24 months is modestly heritable. However, the genes influencing this early linguistic phenotype are unknown. Here we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers of European descent from up to four studies of the EArly Genetics and Lifecourse Epidemiology consortium, analysing an early (15–18 months, ‘one-word stage’, N Total =8,889) and a later (24–30 months, ‘two-word stage’, N Total =10,819) phase of language acquisition. For the early phase, one single-nucleotide polymorphism (rs7642482) at 3p12.3 near ROBO2 , encoding a conserved axon-binding receptor, reaches the genome-wide significance level ( P =1.3 × 10 −8 ) in the combined s le. This association links language-related common genetic variation in the general population to a potential autism susceptibility locus and a linkage region for dyslexia, speech-sound disorder and reading. The contribution of common genetic influences is, although modest, supported by genome-wide complex trait analysis (meta-GCTA h 2 15–18-months =0.13, meta-GCTA h 2 24–30-months =0.14) and in concordance with additional twin analysis (5,733 pairs of European descent, h 2 24-months =0.20).
Publisher: American Academy of Pediatrics (AAP)
Date: 2011
Abstract: The aim of this study was to examine the relationship between duration of breastfeeding and educational outcomes. We hypothesized that longer periods of breastfeeding would predict better educational outcomes in middle childhood. The Western Australian Pregnancy Cohort (Raine) Study used a cohort of 2900 women who were enrolled at 18 weeks' gestation with 2868 live-born children were followed prospectively. At ∼10 years of age, data from 1038 children were linked to standardized mathematics, reading, writing, and spelling scores. Associations between breastfeeding duration and educational outcomes were estimated by using linear models with adjustment for gender, family income, maternal factors, and early stimulation at home through reading. Ten-year-old children who were predominantly breastfed for 6 months or longer in infancy had higher academic scores than children who were breastfed for less than 6 months. The effect of breastfeeding on educational outcomes differed according to gender boys were particularly responsive (in mathematics, spelling, reading, and writing) to a longer duration of breastfeeding. Predominant breastfeeding for 6 months or longer was positively associated with academic achievement in children at 10 years of age. However, the effectiveness of breastfeeding differed according to gender the benefits were only evident for boys.
Publisher: The Royal Society
Date: 07-10-2015
Abstract: Prenatal testosterone may have a powerful masculinizing effect on postnatal physical characteristics. However, no study has directly tested this hypothesis. Here, we report a 20-year follow-up study that measured testosterone concentrations from the umbilical cord blood of 97 male and 86 female newborns, and procured three-dimensional facial images on these participants in adulthood (range: 21–24 years). Twenty-three Euclidean and geodesic distances were measured from the facial images and an algorithm identified a set of six distances that most effectively distinguished adult males from females. From these distances, a ‘gender score’ was calculated for each face, indicating the degree of masculinity or femininity. Higher cord testosterone levels were associated with masculinized facial features when males and females were analysed together ( n = 183 r = −0.59), as well as when males ( n = 86 r = −0.55) and females ( n = 97 r = −0.48) were examined separately ( p -values 0.001). The relationships remained significant and substantial after adjusting for potentially confounding variables. Adult circulating testosterone concentrations were available for males but showed no statistically significant relationship with gendered facial morphology ( n = 85, r = 0.01, p = 0.93). This study provides the first direct evidence of a link between prenatal testosterone exposure and human facial structure.
Publisher: Wiley
Date: 26-04-2006
DOI: 10.1111/J.1469-7610.2006.01624.X
Abstract: Three experiments investigated the role of inner speech deficit in cognitive performances of children with autism. Experiment 1 compared children with autism with ability-matched controls on a verbal recall task presenting pictures and words. Experiment 2 used pictures for which the typical names were either single syllable or multisyllable. Two encoding conditions manipulated the use of verbal encoding. Experiment 3 employed a task-switching paradigm for which performance has been shown to be contingent upon inner speech. In Experiment 1, children with autism demonstrated a lower picture-superiority effect compared to controls. In Experiment 2, the children with autism showed a lower word-length effect when pictures were presented alone, but a more substantial word-length effect in a condition requiring overt labelling. In Experiment 3, articulatory suppression affected the task-switching performance of the control participants only. In iduals with autism have limitations in their use of inner speech.
Publisher: Elsevier BV
Date: 04-2021
Publisher: Wiley
Date: 21-06-2019
DOI: 10.1111/CCH.12691
Abstract: Focus is shifting to better understand the lived experiences of children with intellectual disability in relation to their quality of life (QOL). Yet no available QOL measures are grounded in the domains important for this population. We previously conducted qualitative parent caregiver interviews identifying QOL domains in children with intellectual disability to constitute a new measure of QOL. This study describes the content validity of the Quality of Life Inventory-Disability (QI-Disability), a parent-report measure developed for children with intellectual disability. Questionnaire items were extracted from a qualitative dataset of 77 parent caregiver interviews. To establish content validation, a draft of QI-Disability was administered to 16 parent caregivers of children with intellectual disability (Down syndrome, Rett syndrome, cerebral palsy, or autism spectrum disorder). Parents participated in a cognitive interviewing procedure known as the "think-aloud" method. The process of item generation, cognitive debriefing, and refinement of QI-Disability prior to its pilot testing are described. A conceptual framework is presented. Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected. Use of QI-Disability for children with intellectual disability will allow for greater insight into service utility and targeted intervention.
Publisher: Elsevier BV
Date: 08-2020
Publisher: AME Publishing Company
Date: 03-2020
Publisher: Elsevier BV
Date: 07-2012
Publisher: Wiley
Date: 22-08-2013
DOI: 10.1002/ICD.1771
Publisher: Public Library of Science (PLoS)
Date: 30-05-2013
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 2015
Publisher: Springer Science and Business Media LLC
Date: 27-10-2023
DOI: 10.1038/S41380-022-01845-8
Abstract: Early supports to enhance social development in children with autism are widely promoted. While oxytocin has a crucial role in mammalian social development, its potential role as a medication to enhance social development in humans remains unclear. We investigated the efficacy, tolerability, and safety of intranasal oxytocin in young children with autism using a double-blind, randomized, placebo-controlled, clinical trial, following a placebo lead-in phase. A total of 87 children (aged between 3 and 12 years) with autism received 16 International Units (IU) of oxytocin ( n = 45) or placebo ( n = 42) nasal spray, morning and night (32 IU per day) for twelve weeks, following a 3-week placebo lead-in phase. Overall, there was no effect of oxytocin treatment over time on the caregiver-rated Social Responsiveness Scale (SRS-2) ( p = 0.686). However, a significant interaction with age ( p = 0.028) showed that for younger children, aged 3–5 years, there was some indication of a treatment effect. Younger children who received oxytocin showed improvement on caregiver-rated social responsiveness ( SRS-2). There was no other evidence of benefit in the s le as a whole, or in the younger age group, on the clinician-rated Clinical Global Improvement Scale (CGI-S), or any secondary measure. Importantly, placebo effects in the lead-in phase were evident and there was support for washout of the placebo response in the randomised phase. Oxytocin was well tolerated, with more adverse side effects reported in the placebo group. This study suggests the need for further clinical trials to test the benefits of oxytocin treatment in younger populations with autism. Trial registration www.anzctr.org.au (ACTRN12617000441314).
Publisher: Informa UK Limited
Date: 08-2016
DOI: 10.1111/AP.12222
Publisher: Wiley
Date: 25-10-2010
DOI: 10.1111/J.1365-3016.2010.01161.X
Abstract: There is controversy over whether increased breast-feeding duration has long-term benefits for language development. The current study examined whether the positive associations of breast feeding on language ability at age 5 years in the Western Australian Pregnancy (Raine) Cohort, were still present at age 10 years. The Raine Study is a longitudinal study of 2868 liveborn children recruited at approximately 18 weeks gestation. Breast-feeding data were based upon information prospectively collected during infancy, and were summarised according to four categories of breast-feeding duration: (1) never breast-fed, (2) breast-fed predominantly for 6 months. Language ability was assessed in 1195 children at the 10 year follow-up (mean age = 10.58 years standard deviation = 0.19) using the Peabody Picture Vocabulary Test - Revised (PPVT-R), which is based around a mean of 100 and a standard deviation of 15. Associations between breast-feeding duration and PPVT-R scores were assessed before and after adjustment for a range of sociodemographic, obstetric and psychosocial covariates. Analysis of variance revealed a strong positive association between the duration of predominant breast feeding and PPVT-R at age 10 years. A multivariable linear regression analysis adjusted for covariates and found that children who were predominantly breast-fed for >6 months had a mean PPVT-R score that was 4.04 points higher than children who were never breast-fed. This compared with an increase of 3.56 points at age 5 years. Breast feeding for longer periods in early life has a positive and statistically-independent effect on language development in middle childhood.
Publisher: Wiley
Date: 08-2007
Publisher: SAGE Publications
Date: 05-10-2010
Abstract: This study investigated whether the Communication Checklist — Adult (CC-A) could identify subtypes of social and communication dysfunction in autism probands and their parents. The CC-A is ided into subscales measuring linguistic ability as well as two aspects of social communication: the Pragmatic Skills subscale assesses the level of pragmatic oddities (e.g. excessive talking), while the Social Engagement subscale picks up on those behaviours that reflect a more passive communication style (e.g. failure to engage in social interactions). CC-A data were collected for 69 autism probands, 238 parents of autism probands and 187 typical participants. The CC-A proved sensitive to the communication difficulties of autism probands and a proportion of their parents. The majority of parents who demonstrated the broader phenotype scored poorly on either the Pragmatic Skills or Social Engagement scale only. The Social Engagement scale was particularly sensitive to the difficulties of the parents, indicating that social-communicative passivity may be an important part of the broader autism phenotype. The findings provide evidence for the existence of more constrained pragmatic phenotypes in autism. Molecular genetic studies in this area may benefit from stratifying s les according to these phenotypes.
Publisher: Wiley
Date: 18-06-2015
DOI: 10.1002/AJMG.B.32333
Abstract: In idual differences in aggressive behavior emerge in early childhood and predict persisting behavioral problems and disorders. Studies of antisocial and severe aggression in adulthood indicate substantial underlying biology. However, little attention has been given to genome-wide approaches of aggressive behavior in children. We analyzed data from nine population-based studies and assessed aggressive behavior using well-validated parent-reported questionnaires. This is the largest s le exploring children's aggressive behavior to date (N = 18,988), with measures in two developmental stages (N = 15,668 early childhood and N = 16,311 middle childhood/early adolescence). First, we estimated the additive genetic variance of children's aggressive behavior based on genome-wide SNP information, using genome-wide complex trait analysis (GCTA). Second, genetic associations within each study were assessed using a quasi-Poisson regression approach, capturing the highly right-skewed distribution of aggressive behavior. Third, we performed meta-analyses of genome-wide associations for both the total age-mixed s le and the two developmental stages. Finally, we performed a gene-based test using the summary statistics of the total s le. GCTA quantified variance tagged by common SNPs (10-54%). The meta-analysis of the total s le identified one region in chromosome 2 (2p12) at near genome-wide significance (top SNP rs11126630, P = 5.30 × 10(-8) ). The separate meta-analyses of the two developmental stages revealed suggestive evidence of association at the same locus. The gene-based analysis indicated association of variation within AVPR1A with aggressive behavior. We conclude that common variants at 2p12 show suggestive evidence for association with childhood aggression. Replication of these initial findings is needed, and further studies should clarify its biological meaning. © 2015 Wiley Periodicals, Inc.
Publisher: Springer Science and Business Media LLC
Date: 23-02-2022
DOI: 10.1007/S10862-021-09925-9
Abstract: In multi-cohort consortia, the problem often arises that a phenotype is measured using different questionnaires. This study aimed to harmonize scores based on the Child Behaviour Check List (CBCL) and the Strength and Difficulties Questionnaire (SDQ) for anxiety/depression and ADHD. To link the scales, we used parent reports on 1330 children aged 10–11.5 years from the Raine study on both SDQ and CBCL. Harmonization was done based on Item Response Theory. We started from existing CBCL and SDQ scales related to anxiety/depression and ADHD (theoretical approach). Next, we conducted a data-driven approach using factor analysis to validate the theoretical approach. Both approaches yielded similar scales, validating the combination of existing scales. In addition, we studied the impact of harmonized (IRT-based) scores on the statistical power of the results in meta-analytic gene-finding studies. The results showed that the IRT-based harmonized scores increased the statistical power of the results compared to sum scores, even with an equal s le size. These findings can help future researchers to harmonize data from different s les and/or different questionnaires that measure anxiety, depression, and ADHD, in order to obtain the larger s le sizes, to compare research results across subpopulations or to increase generalizability, the validity or statistical power of research results. We recommend using our item parameters to estimate harmonized scores that represent commensurate phenotypes across cohorts, and we explained in detail how other researchers can use our results to harmonize data in their studies.
Publisher: Elsevier BV
Date: 09-2010
DOI: 10.1016/J.PSYNEUEN.2010.02.007
Abstract: Prenatal exposure to testosterone has been shown to affect fetal brain maturation as well as postnatal cognition and behavior in animal studies. Although there are well-established sex-differences in the use of social communication (or 'pragmatic language') in humans, there has been limited investigation of the association between fetal testosterone exposure and postnatal pragmatic language ability. In this prospective study, pragmatic language skills, assessed using a pragmatic language score (PLS), were measured in 78 girls aged 10 years and correlated with testosterone levels in umbilical cord blood. A measure of the biologically active, 'free' fraction of testosterone, the free androgen index (FAI), was positively correlated with the PLS (R=.3). Regression analyses showed that the FAI was a significant, positive predictor of pragmatic language difficulties in girls after controlling for maternal and infant-health variables (B=0.02, 95% confidence interval=0.01-0.04, p=0.02). This is the first prospective study to identify an association between early life testosterone exposure and pragmatic language difficulties in girls. These novel findings are discussed with reference to the 'extreme male-brain' theory of autism.
Publisher: Elsevier BV
Date: 06-2021
Publisher: Informa UK Limited
Date: 14-02-2023
Publisher: Springer Science and Business Media LLC
Date: 30-09-2022
DOI: 10.1007/S41252-022-00292-4
Abstract: In the Australian disability context, the assessment of children with neurodevelopmental conditions’ functioning (across all domains) is of increasing importance, particularly since the introduction of the National Disability Insurance Scheme. Currently, there is wide variability across assessment of functioning practices, including the choice and use of published tools for assessment. Therefore, we sought to identify the tool characteristics and other factors clinicians consider when selecting an assessment of functioning tool for use with children with neurodevelopmental conditions. Using workshops and an online survey, 45 Australian medical and allied health clinicians (predominantly occupational therapists and psychologists) identified what they thought was ‘most important’ when selecting assessment of functioning tools for children with neurodevelopmental conditions. These qualitative responses were analysed using template analysis. Five main themes relating to a tool’s characteristics were identified: easy, feasible, fair, holistic, and useful. Within these themes, considerations relating to the measure itself, the clinician administering the tool and the in idual being assessed were identified. Characteristics raised by the clinicians align with frameworks described in the literature, pointing to the potential utility of these frameworks in guiding the development and evaluation of future assessment of functioning tools.
Publisher: Frontiers Media SA
Date: 02-05-2014
Publisher: Springer Science and Business Media LLC
Date: 23-02-2017
DOI: 10.1007/S10803-017-3054-Z
Abstract: Previous research shows inconsistency in clinician-assigned diagnoses of Autism Spectrum Disorder (ASD). We conducted an exploratory study that examined the concordance of diagnoses between a multidisciplinary assessment team and a range of independent clinicians throughout Australia. Nine video-taped Autism Diagnostic Observation Schedule (ADOS) assessments were collected from two Australian sites. Twenty-seven Australian health professionals each observed two video-recordings and rated the degree to which the in idual met the DSM-5 criteria for ASD. There was 100% agreement on the diagnostic classification for only 3 of the 9 video clips (33%), with the remaining 6 clips (66%) reaching poor reliability. In addition, only 24% of the participating clinicians achieved 'good' or 'excellent' levels of agreement (Cohen's kappa > 0.6) with the original ASD assessment. These findings have implications for clinical guidelines for ASD assessments.
Publisher: Springer Science and Business Media LLC
Date: 04-10-2022
DOI: 10.1007/S41252-022-00289-Z
Abstract: The current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved. In iduals with personal and/or professional experience of this clinical pathway were invited to complete an online survey. A convenience s le of 117 Australian participants provided qualitative data describing how to improve this clinical pathway, including 71 consumers and 53 professionals (seven participants held both roles). Descriptive statistics were used to summarize the characteristics of the participants and two researchers analyzed the qualitative responses using a template approach. Participants described a five-stage “journey” spanning before, during and after diagnosis of a neurodevelopmental condition. They progressed through “searching” for an explanation, “waiting” for the diagnostic evaluation, “investigating” the signs and symptoms, “knowing” that their child has a neurodevelopmental condition and “accessing” support. Participants also suggested nine key improvements to this process that were named “awareness” through professional training and empathy, “clearer pathways” through professional checklists and plans, “acceptable timeframes” through reduced local waitlists, “more holistic” through assessment and supports, “more collaboration” through communication with key parties, “stability and consistency” through continuous and coordinated services, “generic community programs” through early needs-based support, “understanding” through meaningful diagnostic disclosure and “addressing their needs” through further targeted supports. The findings from this study provide a foundation for future work to improve the diagnostic journey for neurodevelopmental conditions through a collaborative effort between consumers, professionals, researchers and policy makers. These findings highlight the importance of a transdiagnostic and comprehensive clinical pathway that spans the entire journey, where supports are readily available to consumers before, during and after diagnosis. Further research is required to explore the experience of consumers and professionals from more erse backgrounds, as a limitation of this study was that almost all participants were females and very few identified as belonging to a specific cultural group.
Publisher: Springer Science and Business Media LLC
Date: 05-07-1970
Publisher: BMJ
Date: 09-2016
Publisher: Wiley
Date: 21-09-2017
DOI: 10.1002/AUR.1692
Abstract: Extensive research efforts in the last decade have been expended into understanding whether intranasal oxytocin may be an effective therapeutic in treating social communication impairments in in iduals with autism spectrum disorder (ASD). After much hyped early findings, subsequent clinical trials of longer-term administration have yielded more conservative and mixed evidence. However, it is still unclear at this stage whether these more disappointing findings reflect a true null effect or are mitigated by methodological differences masking true effects. In this review, we comprehensively evaluate the rationale for oxytocin as a therapeutic, evaluating evidence from randomized controlled trials, case reports, and open-label studies of oxytocin administration in in iduals with ASD. The evidence to date, including reviews of preregistered trials, suggests a number of critical considerations for the design and interpretation of research in this area. These include considering the choice of ASD outcome measures, dosing and nasal spray device issues, and participant selection. Despite these limitations in the field to date, there remains significant potential for oxytocin to ameliorate aspects of the persistent and debilitating social impairments in in iduals with ASD. Given the considerable media hype around new treatments for ASD, as well as the needs of eager families, there is an urgent need for researchers to prioritise considering such factors when conducting well-designed and controlled studies to further advance this field. Autism Res 2017, 10: 25-41. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Publisher: Springer Science and Business Media LLC
Date: 28-03-2009
Publisher: Springer Science and Business Media LLC
Date: 06-07-2016
DOI: 10.1007/S10803-016-2847-9
Abstract: Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental disorders with strong genetic components. Increasingly, research attention has focused on whether genetic factors conveying susceptibility for these conditions, also influence the risk of other health conditions, such as cancer. We examined the occurrence of hospital admissions and treatment/services for cancer in mothers of children with ASD with or without ID compared with other mothers. After linking Western Australian administrative health databases, we used Cox regression to estimate the hazard ratios (HRs) of any hospitalisations and treatment/services for cancer in these groups of mothers. Mothers of children with ASD without ID had greater risk of admissions for cancer (HR 1.29 [95 % CI 1.1, 1.7]), and for treatment/services in particular (HR 1.41 [95 % CI 1.0, 2.0]), than mothers of children with no ASD/ID, while mothers of children with ASD with ID were no more likely to have a cancer-related hospital admission than other mothers. Mothers of children with autism without ID had increased risk of cancer, which may relate to common genetic pathways.
Publisher: Elsevier BV
Date: 05-2020
Publisher: Springer Science and Business Media LLC
Date: 03-07-2021
DOI: 10.1007/S10802-021-00838-5
Abstract: Child temperament and caregiver psychological distress have been independently associated with social-emotional difficulties among in iduals with autism. However, the interrelationship among these risk factors has rarely been investigated. We explored the reciprocal interplay between child temperament (surgency, negative affectivity, and self-regulation) and caregiver psychological distress in the development of child internalizing and externalizing symptoms, in a cohort of 103 infants showing early autism traits. Caregivers completed questionnaires when children were aged around 12-months (Time 1 [T1]), 18-months (Time 2 [T2]), and 24-months (Time 3 [T3]). Cross-lagged path models revealed a significant pathway from T1 caregiver psychological distress through lower T2 child self-regulation to subsequently greater T3 child internalizing symptoms. No such caregiver-driven pathway was evident through T2 child negative affectivity or in the prediction of T3 child externalizing symptoms. Further, no support was found for temperament-driven pathways through caregiver psychological distress to child social-emotional difficulties. Child surgency was mostly unrelated to caregiver psychological distress and social-emotional difficulties. These findings implicate the need to support the mental health of caregivers with an infant with autism traits in order to enhance the emotion regulation and social-emotional development of their infants.
Publisher: Informa UK Limited
Date: 18-11-2013
DOI: 10.3109/17549507.2013.855262
Abstract: This paper presents a response to the Camarata (2014) lead article regarding the accuracy and effectiveness of early identification and early intervention for young children with autism spectrum disorders (ASD). While Caramata focused heavily on the challenges of behavioural screening for ASD, we believe that he has overlooked the potential that the identification of ASD biomarkers may have for the early detection of the disorder. We propose that the discovery of biomarkers, particularly those that may be used in conjunction with behavioural screening, may provide an important next step in reliably detecting and accurately diagnosing ASD in the early years. This would have important clinical implications in terms of providing early intervention, which may alter the developmental path for the child.
Publisher: Wiley
Date: 22-05-2021
DOI: 10.1002/AUR.2545
Abstract: Delays within the motor domain are often overlooked as an early surveillance marker for autism. The present study evaluated motor difficulties and its potential as an early predictive marker for later autism likelihood in a cohort of infants ( N = 96) showing early behavioral signs of autism aged 9–14 months. The motor domain was evaluated using the motor subscales of the Mullen Scales of Early Learning at baseline, and at a 6‐month follow‐up. The Autism Diagnostic Observation Schedule – Toddler Module (ADOS‐T) was completed at follow‐up as a measure of autism likelihood. Motor difficulties were common at baseline, with 63/96 (65.6%) infants scoring very low or below average in the gross motor domain and 29/96 (30.2%) in the fine motor domain. At follow‐up, gross motor difficulties had resolved for many, with 23/63 (36.5%) infants maintaining these difficulties. Fine motor difficulties resolved in fewer infants, with 20/29 (69.0%) continuing to present with fine motor delays at follow‐up. Adjusted linear regression models suggested that fine motor scores at baseline ( β = −0.12, SE = 0.04) and follow‐up ( β = −0.17, SE = 0.05) were associated with higher ADOS‐T scores with difficulties across both timepoints ( β = 5.60, SE = 1.35) the strongest (largest in magnitude) association with ADOS‐T scores of the predictors examined. Motor difficulties are prominent in children displaying emerging signs of autism, with persistent fine motor difficulties predictive of the developing autism phenotype. The findings indicate the potential clinical value of including evaluation of motor skills within early autism surveillance measures. This prospective study evaluated motor development over a 6‐month period in infants showing early behavioral signs of autism. Atypical motor development was a common feature of infants showing early signs of autism and persistent fine motor difficulties were predictive of the emerging autism phenotype.
Publisher: American Medical Association (AMA)
Date: 03-2022
Publisher: Elsevier BV
Date: 2019
DOI: 10.2139/SSRN.3335044
Publisher: Springer Science and Business Media LLC
Date: 2004
Publisher: Elsevier BV
Date: 03-2022
DOI: 10.1016/J.NEUBIOREV.2022.104543
Abstract: Evidence suggests that in iduals with autism spectrum disorder have increased rates of co-occurring psychosis and/or bipolar disorder. Considering the peak age of onset for psychosis and bipolar disorder occurs in adulthood, we investigated the co-occurrence of these disorders in adults with autism. We conducted a systematic review and meta-analysis (PROSPERO Registration Number: CRD42018104600) to (1) examine the prevalence of psychosis and bipolar disorder in adults with autism, and (2) review potential risk factors associated with their co-occurrence. Fifty-three studies were included. The pooled prevalence for the co-occurrence of psychosis in adults with autism was 9.4 % (N = 63,657, 95 %CI = 7.52, 11.72). The pooled prevalence for the co-occurrence of bipolar disorders in adults with autism was 7.5 % (N = 31,739, 95 %CI = 5.79, 9.53). Psychosis and bipolar disorder occur at a substantially higher prevalence in adults with autism compared to general population estimates. While there is an overall dearth of research examining risk factors for these disorders in autism, males had increased likelihood of co-occurring psychosis, and females of co-occurring bipolar disorder. These results highlight the need for ongoing assessment and monitoring of these disorders in adults with autism.
Publisher: Springer Science and Business Media LLC
Date: 14-08-2021
DOI: 10.1007/S10519-021-10076-6
Abstract: We test whether genetic influences that explain in idual differences in aggression in early life also explain in idual differences across the life-course. In two cohorts from The Netherlands ( N = 13,471) and Australia ( N = 5628), polygenic scores (PGSs) were computed based on a genome-wide meta-analysis of childhood/adolescence aggression. In a novel analytic approach, we ran a mixed effects model for each age (Netherlands: 12–70 years, Australia: 16–73 years), with observations at the focus age weighted as 1, and decaying weights for ages further away. We call this approach a ‘rolling weights’ model. In The Netherlands, the estimated effect of the PGS was relatively similar from age 12 to age 41, and decreased from age 41–70. In Australia, there was a peak in the effect of the PGS around age 40 years. These results are a first indication from a molecular genetics perspective that genetic influences on aggressive behavior that are expressed in childhood continue to play a role later in life.
Publisher: American Academy of Pediatrics (AAP)
Date: 09-2012
Abstract: Over the past decade, the safety of anesthetic agents in children has been questioned after the discovery that immature animals exposed to anesthesia display apoptotic neurodegeneration and long-term cognitive deficiencies. We examined the association between exposure to anesthesia in children under age 3 and outcomes in language, cognitive function, motor skills, and behavior at age 10. We performed an analysis of the Western Australian Pregnancy Cohort (Raine) Study, which includes 2868 children born from 1989 to 1992. Of 2608 children assessed, 321 were exposed to anesthesia before age 3, and 2287 were unexposed. On average, exposed children had lower scores than their unexposed peers in receptive and expressive language (Clinical Evaluation of Language Fundamentals: Receptive [CELF-R] and Expressive [CELF-E]) and cognition (Colored Progressive Matrices [CPM]). After adjustment for demographic characteristics, exposure to anesthesia was associated with increased risk of disability in language (CELF-R: adjusted risk ratio [aRR], 1.87 95% confidence interval [CI], 1.20–2.93, CELF-E: aRR, 1.72 95% CI, 1.12–2.64), and cognition (CPM: aRR, 1.69 95% CI, 1.13–2.53). An increased aRR for disability in language and cognition persisted even with a single exposure to anesthesia (CELF-R aRR, 2.41 95% CI, 1.40–4.17, and CPM aRR, 1.73 95% CI, 1.04–2.88). Our results indicate that the association between anesthesia and neuropsychological outcome may be confined to specific domains. Children in our cohort exposed to anesthesia before age 3 had a higher relative risk of language and abstract reasoning deficits at age 10 than unexposed children.
Publisher: Springer Science and Business Media LLC
Date: 19-06-2018
Publisher: Springer Science and Business Media LLC
Date: 29-01-2019
Publisher: Springer Science and Business Media LLC
Date: 07-11-2013
DOI: 10.1007/S10803-013-1975-8
Abstract: This study investigated the involvement of inner speech limitations in the executive dysfunction associated with autism spectrum disorders (ASDs). Seventeen children with ASD and 18 controls, statistically-matched in age and IQ, performed a computer-based card sorting test (CST) to assess cognitive flexibility under four conditions: baseline, with articulatory suppression, with a concurrent mouthing task, and while verbalizing their strategies aloud. Articulatory suppression adversely affected CST performance for the control group but not the ASD group. The results additionally showed that overtly verbalizing strategies did not benefit the ASD children as it did the typically developing children. The findings thus provide further evidence that ASD children do not use inner speech to the same extent, or with the same effectiveness, as typically developing children when performing executive tasks.
Publisher: Informa UK Limited
Date: 03-04-2022
Publisher: Springer Science and Business Media LLC
Date: 20-05-2023
DOI: 10.1007/S10803-023-05914-X
Abstract: The importance of supporting parent-child interactions has been noted in the context of prodromal autism, but little consideration has been given to the possible contributing role of parental characteristics, such as psychological distress. This cross-sectional study tested models in which parent-child interaction variables mediated relations between parent characteristics and child autistic behaviour in a s le of families whose infant demonstrated early signs of autism (N = 103). The findings suggest that associations between parent characteristics (psychological distress aloofness) and child autistic behaviours may be mediated by the child’s inattentiveness or negative affect during interactions. These findings have important implications in developing and implementing interventions in infancy which target the synchrony of parent-child interaction with the goal to support children’s social communication development.
Publisher: Frontiers Media SA
Date: 2013
Publisher: Elsevier BV
Date: 09-2018
Publisher: Wiley
Date: 04-2015
DOI: 10.1111/GBB.12213
Publisher: Elsevier BV
Date: 06-2015
DOI: 10.1016/J.BBR.2015.03.008
Abstract: Prenatal exposure to vitamin D is thought to be critical for optimal fetal neurodevelopment, yet vitamin D deficiency is apparent in a growing proportion of pregnant women. The aim of this study was to determine whether a mouse model of vitamin D-deficiency alters fetal neurodevelopment. Female BALB/c mice were placed on either a vitamin D control (2,195 IU/kg) or deficient (0 IU/kg) diet for 5 weeks prior to and during pregnancy. Fetal brains were collected at embryonic day (E) 14.5 or E17.5 for morphological and gene expression analysis. Vitamin D deficiency during pregnancy reduced fetal crown-rump length and head size. Moreover, lateral ventricle volume was reduced in vitamin D-deficient foetuses. Expression of neurotrophin genes brain-derived neurotrophic factor (Bdnf) and transforming growth factor-β1 (Tgf-β1) was altered, with Bdnf reduced at E14.5 and increased at E17.5 following vitamin D deficiency. Brain expression of forkhead box protein P2 (Foxp2), a gene known to be important in human speech and language, was also altered. Importantly, Foxp2 immunoreactive cells in the developing cortex were reduced in vitamin D-deficient female foetuses. At E17.5, brain tyrosine hydroxylase (TH) gene expression was reduced in females, as was TH protein localization (to identify dopamine neurons) in the substantia nigra of vitamin D-deficient female foetuses. Overall, we show that prenatal vitamin D-deficiency leads to alterations in fetal mouse brain morphology and genes related to neuronal survival, speech and language development, and dopamine synthesis. Vitamin D appears to play an important role in mouse neurodevelopment.
Publisher: Wiley
Date: 18-10-2020
DOI: 10.1002/AUR.2230
Abstract: Motor impairment is not currently included in the diagnostic criteria or evaluation of autism. This reflects the lack of large-scale studies demonstrating its prominence to advocate for change. We examined the prevalence of motor difficulties at the time of diagnosis in a large s le of children with autism utilizing standardized assessment, and the relationship between motor difficulties, core autism symptomology, and other prominent clinical features. Vineland Adaptive Behavior Scales were administered to children from the Western Australian Register for Autism Spectrum Disorders aged ≤6 years (N = 2,084 81.2% males, 18.8% females). Prevalence of motor difficulties was quantified based on scores from the motor domain of the Vineland and then compared to other domains of functioning within the Vineland (communication, daily living, and socialization), the DSM criteria, intellectual level, age, and gender. Scores on the Vineland indicated that 35.4% of the s le met criteria for motor difficulties (standard score <70), a rate almost as common as intellectual impairment (37.7%). Motor difficulties were reported by diagnosing clinicians in only 1.34% of cases. Motor difficulties were common in those cases meeting diagnostic criteria for impairments in nonverbal behavior and the presence of restricted and repetitive behaviors. The prevalence of motor difficulties also increased with increasing age of diagnosis (P < 0.001). Findings from the present study highlight the need for further consideration of motor difficulties as a distinct specifier within the diagnostic criteria for ASD. Autism Res 2020, 13: 298-306. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: In this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties, a rate almost as common as intellectual disability. This study demonstrates that motor difficulties are a prominent feature of the autism phenotype requiring further consideration in both the diagnostic criteria and evaluation of autism.
Publisher: Springer Science and Business Media LLC
Date: 27-02-2017
DOI: 10.1007/S10803-016-3014-Z
Abstract: The current study examined the relationship between early language ability and autistic-like traits in adulthood, utilising data from 644 participants from a longitudinal study of the general population. Language performance at 2 years was measured with the Language Development Survey (LDS), and at 20 years the participants completed the Autism-Spectrum Quotient (AQ). Vocabulary size at 2 years was negatively associated with Total AQ score, as well as scores on the Communication, and Social Skills subscales. Adults who had been late talkers were also more likely to have 'high' scores on the Communication subscale. This is the first study to show an association between early language ability and autistic-like traits in adulthood.
Publisher: Springer Science and Business Media LLC
Date: 17-05-2021
DOI: 10.1186/S13229-021-00445-7
Abstract: Traits and characteristics qualitatively similar to those seen in diagnosed autism spectrum disorder can be found to varying degrees in the general population. To measure these traits and facilitate their use in autism research, several questionnaires have been developed that provide broad measures of autistic traits [e.g. Autism-Spectrum Quotient (AQ), Broad Autism Phenotype Questionnaire (BAPQ)]. However, since their development, our understanding of autism has grown considerably, and it is arguable that existing measures do not provide an ideal representation of the trait dimensions currently associated with autism. Our aim was to create a new measure of autistic traits that reflects our current understanding of autism, the Comprehensive Autism Trait Inventory (CATI). In Study 1, 107 pilot items were administered to 1166 in iduals in the general population and exploratory factor analysis of responses used to create the 42-item CATI comprising six subscales: Social Interactions , Communication , Social Camouflage , Repetitive Behaviours , Cognitive Rigidity , and Sensory Sensitivity . In Study 2, the CATI was administered to 1119 new in iduals and confirmatory factor analysis used to verify the factor structure. The AQ and BAPQ were administered to validate the CATI, and additional autistic participants were recruited to compare the predictive ability of the measures. In Study 3, to validate the CATI subscales, the CATI was administered to 202 new in iduals along with existing valid measures qualitatively similar to each CATI subscale. The CATI showed convergent validity at both the total-scale ( r ≥ .79) and subscale level ( r ≥ .68). The CATI also showed superior internal reliability for total-scale scores ( α = .95) relative to the AQ ( α = .90) and BAPQ ( α = .94), consistently high reliability for subscales ( α .81), greater predictive ability for classifying autism (Youden’s Index = .62 vs .56–.59), and demonstrated measurement invariance for sex. Analyses of predictive ability for classifying autism depended upon self-reported diagnosis or identification of autism. The autistic s le was not large enough to test measurement invariance of autism diagnosis. The CATI is a reliable and economical new measure that provides observations across a wide range of trait dimensions associated with autism, potentially precluding the need to administer multiple measures, and to our knowledge, the CATI is also the first broad measure of autistic traits to have dedicated subscales for social camouflage and sensory sensitivity.
Publisher: Bioscientifica
Date: 05-2018
DOI: 10.1530/JOE-18-0008
Abstract: Early life vitamin D plays a prominent role in neurodevelopment and subsequent brain function, including schizophrenic-like outcomes and increasing evidence for an association with autism spectrum disorder (ASD). Here, we investigate how early life vitamin D deficiency during rat pregnancy and lactation alters maternal care and influences neurodevelopment and affective, cognitive and social behaviours in male adult offspring. Sprague–Dawley rats were placed on either a vitamin D control (2195 IU/kg) or deficient diet (0 IU/kg) for five weeks before timed mating, and diet exposure was maintained until weaning of offspring on postnatal day (PND) 23. MRI scans were conducted to assess brain morphology, and plasma corticosterone levels and neural expression of genes associated with language, dopamine and glucocorticoid exposure were characterised at PND1, PND12 and 4 months of age. Compared to controls, vitamin D-deficient dams exhibited decreased licking and grooming of their pups but no differences in pup retrieval. Offspring neurodevelopmental markers were unaltered, but vitamin D-deficient pup ultrasonic vocalisations were atypical. As adults, males that had been exposed to vitamin D deficiency in early life exhibited decreased social behaviour, impaired learning and memory outcomes and increased grooming behaviour, but unaltered affective behaviours. Accompanying these behavioural changes was an increase in lateral ventricle volume, decreased cortical FOXP2 (a protein implicated in language and communication) and altered neural expression of genes involved in dopamine and glucocorticoid-related pathways. These data highlight that early life levels of vitamin D are an important consideration for maternal behavioural adaptations as well as offspring neuropsychiatry.
Publisher: Wiley
Date: 17-08-2017
DOI: 10.1002/AUR.1824
Abstract: Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of in iduals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development. Although there is little consensus across the reviewed studies for the majority of facial characteristics described, preliminary evidence suggests increased facial asymmetry may be more common in ASC. There is also evidence to suggest that there are morphologically distinct subgroups within ASC that correspond with different cognitive and behavioral symptomatology. However, in light of the various inconsistencies in the reported literature, and based on an accumulating understanding of etiological pathways proposed to be associated with ASC, we propose an alternative paradigm for investigating facial phenotypes in ASC. A series of studies are outlined to demonstrate the promise of a research program that has taken a hypothesis-driven approach to examine facial phenotypes associated with increased exposure to prenatal testosterone and to ASC. Autism Res 2017, 10: 1910-1918. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. This commentary reviewed studies that found differences in the facial features of in iduals with autism spectrum conditions (ASC) compared to typically developing in iduals. While there is little agreement between studies, there is some support for asymmetrical facial features associated with ASC, and preliminary evidence that particular facial features relate to specific patterns of cognitive and behavioral symptoms. However, in light of inconsistencies between studies and based on accumulating understanding of etiological pathways, we propose an alternative approach to investigating facial differences in ASC.
Publisher: Wiley
Date: 06-2012
Publisher: SAGE Publications
Date: 25-08-2019
Abstract: This study aimed to understand coaches’ approaches to including children with disabilities in a community-based Australian rules football program for children. Football coaches for the program, called Auskick, completed an online survey providing qualitative and quantitative information about their experiences of inclusive coaching. Coaches (N = 130) completed the survey over 2016/2017. The average years of coaching experience was 3.3 (range 0–19 years). While 79% of coaches had experienced a child with a disability attending their football centre, only 31% of coaches (56% of paid coaches and 27% of volunteer coaches) had completed disability training. Autism, attention deficit hyperactivity disorder and intellectual disability were the most common types of developmental disabilities, and asthma, vision and hearing problems were the most common physical disabilities of children attending the coaches’ centres. Eighty-nine coaches provided ex les of inclusive approaches. The most common was having an inclusive attitude, asking the parents for help, making adaptations to suit the child, giving extra time, getting additional help and staff training. Community football coaches frequently work with children who have a broad range of developmental and physical disabilities. Coach disability training is needed to support children with disabilities attending these types of sporting programs in the community.
Publisher: SAGE Publications
Date: 05-2007
Abstract: This article tests the hypothesis that in iduals with autism poorly encode verbal information to the semantic level of processing, instead paying greater attention to phonological attributes. Participants undertook a novel explicit verbal recall task. Twenty children with autism were compared with 20 matched typically developing children. On each trial, 20 words were presented in idually on a computer screen. Half of the items were related through having either a common semantic theme, or a common phonological feature. Following a filler task, the participants were presented with a cue and asked to recall items consistent with the cue. No differences between the autism and comparison groups were found in either the semantic or the phonological condition. A follow-up comparison revealed that the participants with autism showed comparable levels of recall to an additional group of children matched in chronological age. The findings do not support the idea of a developmental delay in semantic encoding in children with autism.
Publisher: Springer Science and Business Media LLC
Date: 19-01-2019
DOI: 10.1007/S00787-019-01275-Y
Abstract: Whether or not childhood sleep problems and anxiety occur simultaneously, or one precedes the other, and any effect of autistic traits on this relationship remains unclear. We investigated longitudinal associations between sleep and anxiety at 2 years and sleep and anxiety at 8 years controlling for demographic variables. We also examined the additional influence of autistic traits at 2 years on sleep problems and anxiety at 8 years. Participants were from the Western Australian Pregnancy Cohort (Raine) Study, where 2900 pregnant women were recruited between 1989 and 1991 and their children assessed every 2-3 years thereafter. Demographic information was provided at 16-18 weeks gestation. Children's sleep and anxiety at 2 and 8 years and autistic traits at 2 years were measured using the Child Behavior Checklist. Hierarchical multiple regression models tested the prediction of both anxiety and sleep problems at 8 years. Sleep problems at 2 years and 8 years, anxiety at 2 years, and autistic traits at 2 years were significantly associated with anxiety at 8 years. Sleep problems at 2 years and anxiety at 8 years were significantly related to sleep problems at 8 years. Each of these models explained about 20% of variance. Childhood sleep problems, anxiety and autistic traits are interrelated and can occur concurrently in young children, but the best predictor of poor sleep in middle childhood is concurrent anxiety and vice versa. Anxiety and sleep problems may be an early indicator of autism in young children and early autistic traits may also contribute to anxiety problems later in childhood.
Publisher: Wiley
Date: 26-01-2012
DOI: 10.1111/J.1469-7610.2011.02523.X
Abstract: Preliminary evidence suggests that prenatal testosterone exposure may be associated with language delay. However, no study has examined a large s le of children at multiple time-points. Umbilical cord blood s les were obtained at 861 births and analysed for bioavailable testosterone (BioT) concentrations. When participating offspring were 1, 2 and 3 years of age, parents of 767 children (males = 395 females = 372) completed the Infant Monitoring Questionnaire (IMQ), which measures Communication, Gross Motor, Fine Motor, Adaptive and Personal-Social development. Cut-off scores are available for each scale at each age to identify children with 'clinically significant' developmental delays. Chi-square analyses and generalized estimating equations examined longitudinal associations between sex-specific quartiles of BioT concentrations and the rate of developmental delay. Significantly more males than females had language delay (Communication scale) at age 1, 2 and 3 years (p-values ≤. 01). Males were also more likely to be classified as delayed on the Fine-Motor (p = .04) and Personal-Social (p < .01) scales at age 3 years. Chi-square analyses found a significant difference between BioT quartiles in the rate of language delay (but not Fine-Motor and Personal-Social delay) for males (age 3) and females (age 1 and 3). Generalized estimating equations, incorporating a range of sociodemographic and obstetric variables, found that males in the highest BioT quartile were at increased risk for a clinically significant language delay during the first 3 years of life, with an odds ratio (OR) of 2.47 (95% CI: 1.12, 5.47). By contrast, increasing levels of BioT reduced the risk of language delay among females (Quartile 2: OR = 0.23, 95% CI: 0.09, 0.59 Quartile 4: 0.46, 95% CI: 0.21, 0.99). These data suggest that high prenatal testosterone levels are a risk factor for language delay in males, but may be a protective factor for females.
Publisher: Springer Science and Business Media LLC
Date: 27-01-2021
DOI: 10.1038/S41390-021-01373-1
Abstract: The aim of this study was to understand the challenges experienced by families obtaining a diagnosis and therapy for developmental coordination disorder (DCD). Parents of 435 children aged 4-18 years with persistent motor difficulties consistent with a diagnosis of DCD completed an online survey. Diagnostic timeline and diagnostic label/s received were examined, along with therapies accessed. There was inconsistent diagnostic terminology (nine separate terms) with more children diagnosed with dyspraxia (64.7%) than DCD (48.8%). Even though most parents (87.0%) reported that receiving a diagnosis was helpful, children did not receive a diagnosis until years after seeking help (mean 2.8 ± 2.3 years). Many children were diagnosed with at least one co-occurring neurodevelopmental, language or learning disorder (70.0%). Almost all families had accessed therapy for their child's movement difficulties (93.9%), but more than half did not have access to funding to support therapy costs (57.8%) and reported that the costs caused financial strain (52.6%). Two out of every three families reported that they did not feel the current level of therapy was sufficient. This critical advocacy research highlights inconsistent and incorrect terminology and the challenges families experience in obtaining a diagnosis and adequate access to therapy for their child's movement difficulties. This is the first comprehensive study to examine the challenges families experience gaining a diagnosis and therapy for their child with DCD. Families regularly experienced prolonged diagnosis 45% waited between 2 and 4 years. There is no clear diagnostic pathway, with children more likely to be diagnosed with dyspraxia than the correct clinical diagnosis of DCD. More extensive implementation of the diagnostic guidelines into clinical practice is needed.
Publisher: Elsevier BV
Date: 03-2015
Publisher: Wiley
Date: 05-2008
DOI: 10.1111/J.1469-8749.2008.02057.X
Abstract: Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed with autism. We applied contemporary diagnostic criteria for autism to adults with a history of developmental language disorder, to discover whether diagnostic substitution has taken place. A total of 38 adults (aged 15-31y 31 males, seven females) who had participated in studies of developmental language disorder during childhood were given the Autism Diagnostic Observation Schedule--Generic. Their parents completed the Autism Diagnostic Interview--Revised, which relies largely on symptoms present at age 4 to 5 years to diagnose autism. Eight in iduals met criteria for autism on both instruments, and a further four met criteria for milder forms of autistic spectrum disorder. Most in iduals with autism had been identified with pragmatic impairments in childhood. Some children who would nowadays be diagnosed unambiguously with autistic disorder had been diagnosed with developmental language disorder in the past. This finding has implications for our understanding of the epidemiology of autism.
Publisher: Springer Science and Business Media LLC
Date: 02-07-2021
DOI: 10.1007/S10803-020-04567-4
Abstract: This study explored the association between autistic-like traits in young adults and dietary intake in early childhood in the Gen2 Raine Study cohort. Data were available from 811 participants at years 1, 2 and 3 for the assessment of dietary intake, and at year 20 for measurement of autistic-like traits. Results showed as autistic-like traits increased, total food variety, core food variety and dairy variety decreased (p 0.05), with a lower consumption of citrus fruits and yoghurt (both p = 0.04). As autistic-like traits increased, diet quality decreased, this trend was significant at 2 years (p = 0.024). Our results suggest that young adults with higher autistic-like traits were more likely to have had lower food variety and diet quality in early childhood.
Publisher: SAGE Publications
Date: 09-07-2016
Abstract: Weight status on children and youth with autism spectrum disorder is limited. We examined the prevalence of overweight/obesity in children and youth with autism spectrum disorder, and associations between weight status and range of factors. Children and youth with autism spectrum disorder aged 2–16 years ( n = 208) and their parents participated in this study. Body mass index was calculated using the Centers for Disease Control and Prevention growth charts and the International Obesity Task Force body mass index cut-offs. The Autism Diagnostic Observation Schedule was administered. Parents completed questionnaires about socio-demographics, diagnosed comorbidities, sleep disturbances, social functioning and medication of youth with autism spectrum disorder. The prevalence of overweight/obesity in participants with autism spectrum disorder was 35%. One quarter of obese children and youth (25.6%) had obese parents. There was a significant association between children and youth’s body mass index and maternal body mass index ( r = 0.25, n = 199, p 0.001). The gender and age, parental education, family income, ethnicity, autism spectrum disorder severity, social functioning, psychotropic and complementary medication use of children and youth with autism spectrum disorder were not statistically associated with their weight status. Findings suggest the need for clinical settings to monitor weight status of children and youth with autism spectrum disorder in a bid to manage or prevent overweight/obesity in this population. Incorporating a family system approach to influence health behaviours among children and youth with autism spectrum disorder especially for specific weight interventions is warranted and should be further explored.
Publisher: Frontiers Media SA
Date: 27-06-2019
Publisher: Elsevier BV
Date: 11-2021
DOI: 10.1016/J.CELL.2021.10.015
Abstract: There is increasing interest in the potential contribution of the gut microbiome to autism spectrum disorder (ASD). However, previous studies have been underpowered and have not been designed to address potential confounding factors in a comprehensive way. We performed a large autism stool metagenomics study (n = 247) based on participants from the Australian Autism Biobank and the Queensland Twin Adolescent Brain project. We found negligible direct associations between ASD diagnosis and the gut microbiome. Instead, our data support a model whereby ASD-related restricted interests are associated with less- erse diet, and in turn reduced microbial taxonomic ersity and looser stool consistency. In contrast to ASD diagnosis, our dataset was well powered to detect microbiome associations with traits such as age, dietary intake, and stool consistency. Overall, microbiome differences in ASD may reflect dietary preferences that relate to diagnostic features, and we caution against claims that the microbiome has a driving role in ASD.
Publisher: Wiley
Date: 06-07-2017
DOI: 10.1002/AUR.1830
Abstract: There is significant heterogeneity amongst in iduals with Autism Spectrum Disorder (ASD) in symptom presentation and severity. An understanding of the factors that contribute to and modulate symptom severity are critical to informing prognosis, stratification, and treatment decisions. Maternal prenatal stress exposure is a nonspecific risk factor for a wide array of neurodevelopmental outcomes in subsequent offspring. Emerging evidence suggests that prenatal maternal stress may increase ASD risk and contribute to variability in autism-like traits in the general population. In the current study, we aimed to determine whether prenatal maternal exposure to stressful life events is associated with symptom severity amongst in iduals with ASD. We performed multiple regression analyses to examine associations between retrospectively recalled maternal prenatal stressful life events and the severity of ASD-associated symptoms in 174 children with ASD (Mage = 9.09 years SD = 3.81). ASD-related symptom severity was measured using the Social Responsiveness Scale and communication abilities were measured using the Children's Communication Checklist. Exposure to prenatal stressful life events was a significant predictor of ASD-related symptom severity (t = 2.014 P = .048) and communication abilities (t = -2.925 P = .004) amongst children with ASD, even after controlling for a range of sociodemographic and obstetric variables. Follow-up analyses demonstrated significant increases in symptom severity only in the context of multiple (two or more) prenatal stressful life events. Together, these findings indicate that ASD, in the context of prenatal maternal stress exposure, may be associated with a more severe phenotype, particularly when there are multiple prenatal exposures. Autism Res 2017, 10: 1866-1877. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. There is emerging evidence that prenatal maternal stress may increase the risk for Autism Spectrum Disorder (ASD) and contribute to variability in autism-like traits in the general population. Here, we found that more stressful life events experienced during pregnancy was associated with more severe ASD-related symptoms and poorer communication abilities amongst children with ASD. The results from this study suggest that prenatal maternal stress exposure and its sequelae may contribute to variability in symptom severity amongst children with ASD.
Publisher: Wiley
Date: 26-06-2013
DOI: 10.1002/EAT.22147
Abstract: To determine if maternal vitamin D concentrations at 18 weeks gestation predict offspring eating disorder risk in adolescence. Participants were 526 Caucasian mother-child dyads from the Western Australian Pregnancy Cohort (Raine) Study. The Raine Study has followed participants from 18 weeks gestation to 20 years of age. Maternal serum 25(OH)-vitamin D concentrations were measured at 18 weeks pregnancy and grouped into quartiles. Offspring eating disorder symptoms were assessed at ages 14, 17 and 20 years. Core analyses were limited to female offspring (n = 308). Maternal 25(OH)-vitamin D quartiles were a significant predictor of eating disorder risk in female offspring, in multivariate logistic regression models. Vitamin D in the lowest quartile was associated with a 1.8-fold increase in eating disorder risk relative to concentrations in the highest quartile. This association also accounted for the relationship between offspring season of birth and eating disorder risk. Results were significant after adjusting for sociodemographic characteristics, body mass index and depressive symptoms. This is the first study to link low gestational vitamin D to increased eating disorder risk in female offspring of Caucasian mothers. Research is needed to extend these findings and to consider how gestational vitamin D may relate to the pathogenesis of eating disorders.
Publisher: American Speech Language Hearing Association
Date: 17-07-2020
DOI: 10.1044/2020_JSLHR-19-00005
Abstract: The aim of the study was to examine whether otitis media (OM) in early childhood has an impact on language development in later childhood. We analyzed data from 1,344 second-generation (Generation 2) participants in the Raine Study, a longitudinal pregnancy cohort established in Perth, Western Australia, between 1989 and 1991. OM was assessed clinically at 6 years of age. Language development was measured using the Peabody Picture Vocabulary Test–Revised (PPVT-R) at 6 and 10 years of age and the Clinical Evaluation of Language Fundamentals–Third Edition at 10 years of age. Logistic regression analysis accounted for a wide range of social and environmental covariates. There was no significant relationship between bilateral OM and language ability at 6 years of age (β = −0.56 [−3.78, 2.66], p = .732). However, while scores were within the normal range for the outcome measures at both time points, there was a significant reduction in the rate of receptive vocabulary growth at 10 years of age (PPVT-R) for children with bilateral OM at 6 years of age (β = −3.17 [−6.04, −0.31], p = .030), but not for the combined unilateral or bilateral OM group (β = −1.83 [−4.04, 0.39], p = .106). Children with OM detected at 6 years of age in this cohort had average language development scores within the normal range at 6 and 10 years of age. However, there was a small but statistically significant reduction in the rate of receptive vocabulary growth at 10 years of age (on the PPVT-R measure only) in children who had bilateral OM at 6 years of age after adjusting for a range of sociodemographic factors.
Publisher: Springer Science and Business Media LLC
Date: 27-02-2020
Publisher: SAGE Publications
Date: 08-09-2023
DOI: 10.1177/13623613221119368
Abstract: The breadth of available non-pharmacological interventions for autistic children, with varying evidence for efficacy summarised in multiple systematic reviews, creates challenges for parents, practitioners, and policymakers in navigating the research evidence. In this article, we report the findings of an umbrella review of 58 systematic reviews of non-pharmacological interventions for autistic children (aged 0–12 years). Positive therapeutic effects were identified for Behavioural interventions, Developmental interventions, Naturalistic Developmental Behavioural Interventions, Technology-based interventions, and Cognitive Behaviour Therapy across several child and family outcomes. Positive effects for certain practices within Sensory-based interventions and ‘other’ interventions were limited to select child and family outcomes. Both inconsistent and null intervention effects were found for Treatment and Education of Autistic and related Communication-handicapped Children, and Animal-assisted interventions across outcomes. The possible influence of child (chronological age, core autism characteristics, and related skills) and delivery (agent, mode, format, and amount) characteristics on intervention effects was rarely examined, and inconsistent where reported. Twenty-seven systematic reviews (47%) were rated as ‘high’ quality. Few systematic reviews examined children’s participation and quality of life or adverse effects. The findings highlight the need for in idualised evidence-based decision-making when selecting interventions for autistic children. What is already known about the topic? The delivery of evidence-based interventions is an important part of the clinical pathway for many autistic children and their families. However, parents, practitioners, and policymakers face challenges making evidence informed decisions, due to the wide variety of interventions available and the large, and often inconsistent, body of evidence regarding their effectiveness. What this paper adds? This is a comprehensive umbrella review, also known as a ‘review of reviews’, which examined the range of interventions available, the evidence for their effectiveness, and whether effects were influenced by factors relating to in idual children (e.g. chronological age, core autism characteristics, and related skills) or the ways interventions were delivered (by whom and in what setting, format, mode, and amount). There was evidence for positive therapeutic effects for some, but not all, interventions. No single intervention had a positive effect for all child and family outcomes of interest. The influence of child and delivery characteristics on effects was unclear. Implications for practice, research, and policy The findings provide parents, practitioners, and policymakers with a synthesis of the research evidence to inform decision-making and highlight the importance of in idualised approaches in the absence of clear and consistent evidence. The findings also highlight the need to improve consistency and completeness in reporting of research studies, so that the same questions may be answered more comprehensively in the future.
Publisher: Wiley
Date: 10-02-2020
DOI: 10.1111/JCPP.13203
Publisher: Springer Science and Business Media LLC
Date: 26-09-2022
DOI: 10.1007/S41252-022-00282-6
Abstract: Children who have an older sibling diagnosed with autism have an increased likelihood of being diagnosed with autism or developing broader developmental difficulties. This study explored perinatal experiences of parents of a child diagnosed with autism, spanning pre-conception until the subsequent child’s early developmental period. Qualitative interviews were conducted with ten parents of a child diagnosed with autism, and ten parents of a child with no neurodevelopmental diagnosis, each of whom had gone on to have a subsequent child. Thematic analysis occurred concurrently with data collection and involved comparisons between the two s les. Four themes were identified in relation to the perinatal period of a subsequent child following the autism diagnosis of an older child. These were parental experiences of “apprehension”, “adjustment”, and “adaptation”, underpinned by the “importance of support”. Many experiences of parenting were similar between the two groups, with comparison between the groups identifying the role of autism in an increased focus, concern, and hypervigilance to their child’s development. Having a child diagnosed with autism intensifies some of the common experiences of parenting and infancy. The challenges identified by parents throughout the experience of parenting an infant after having a child diagnosed with autism indicate that the development of supports could help empower families in this situation going forwards.
Publisher: SAGE Publications
Date: 08-08-2021
DOI: 10.1177/13623613211036809
Abstract: Content validity describes the extent to which a measure represents, and is relevant to, the construct it aims to assess. The International Classification of Functioning, Disability and Health and derived Core/Code Sets (Sets) for autism, attention deficit-hyperactivity disorder, cerebral palsy and early developmental delay and disability are adequate to establish the content validity of measures aiming to assess functioning in young children with neurodevelopmental conditions (NDCs). This article aimed to assess the content validity of comprehensive assessments of functioning for young children with NDCs against these standards. Twenty-two common measures of functioning were evaluated for content validity against the International Classification of Functioning, Disability and Health at a domain level, with 10 measures analysed at the item-level and compared to the Sets relevant to young children with NDCs. Measures covered between 21% and 57% of the combined Set codes and 19% to 63% of codes from specific Sets. Much of this variation was between measures, with some variation due to differences between in idual Sets. The percentages reflect that measures heavily focus on activities and participation areas, with environmental factors rarely assessed. These findings are useful for clinicians, policymakers, and researchers in identifying the most appropriate measures for assessing functioning in young children with neurodevelopmental conditions. Young children who have developmental delay, autism, or other neurodevelopmental conditions can have difficulties doing things in different areas of their life. What they can and cannot do is called their level of functioning. There are lots of assessment measures that aim to assess functioning. But, we are not sure if these measures assess all the things we need to know about these children’s functioning. Other research has identified lists of items (codes) that need to be assessed to understand functioning for young children with different neurodevelopmental conditions fully. These lists include body functions (the things a child’s body or brain can do), activities and participation (the activities and tasks a child does) and environmental factors (parts of the environment that can influence functioning). In this study, we looked at the items from these lists assessed by different functioning measures to see how they compared to what should be assessed. The measures that we looked at covered 21%–57% of all the codes and 19%–63% of the codes for lists specific to different conditions. Most of the measures focused on activity and participation codes, and they rarely assessed environmental factors. Knowing which codes and how much of the lists the measures assess can help researchers, clinicians and policymakers to choose measures that are more appropriate for young children with neurodevelopmental conditions.
Publisher: Springer Science and Business Media LLC
Date: 03-05-2021
Publisher: Public Library of Science (PLoS)
Date: 08-07-2016
Publisher: Springer Science and Business Media LLC
Date: 22-08-2005
Abstract: The Fenofibrate Intervention and Event Lowering in Diabetes (FIELD) Study is examining the effects of long-term fibrate therapy on coronary heart disease (CHD) event rates in patients with diabetes mellitus. This article describes the trial's run-in phase and patients' baseline characteristics. FIELD is a double-blind, placebo-controlled trial in 63 centres in 3 countries evaluating the effects of fenofibrate versus placebo on CHD morbidity and mortality in 9795 patients with type 2 diabetes mellitus. Patients were to have no indication for lipid-lowering therapy on randomization, but could start these or other drugs at any time after randomization. Follow-up in the study was to be for a median duration of not less than 5 years and until 500 major coronary events (fatal coronary heart disease plus nonfatal myocardial infarction) had occurred. About 2100 patients (22%) had some manifestation of cardiovascular disease (CVD) at baseline and thus high risk status. Less than 25% of patients without CVD had a (UKPDS determined) calculated 5-year CHD risk of %, but nearly all had a 5-year stroke risk of %. Despite this, half of the cohort were obese (BMI 30), most were men, two-thirds were aged over 60 years, and substantial proportions had NCEP ATP III features of the metabolic syndrome independent of their diabetes, including low HDL (60%), high blood pressure measurement or treatment for hypertension (84%), high waist measurement (68%), and raised triglycerides (52%). After a 6-week run-in period before randomisation with all participants receiving 200 mg comicronized fenofibrate, there were declines in total and LDL cholesterol (10%) and triglycerides (26%) and an increase in HDL cholesterol (6.5%). The study will show the effect of PPAR-alpha agonist action on CHD and other vascular outcomes in patients with type 2 diabetes including substantial numbers with low to moderate CVD risk but with the various components of the metabolic syndrome. The main results of the study will be reported in late 2005.
Publisher: Elsevier BV
Date: 10-2010
Publisher: Mary Ann Liebert Inc
Date: 06-2022
Publisher: Wiley
Date: 08-07-2009
Publisher: Public Library of Science (PLoS)
Date: 04-2013
Publisher: Elsevier BV
Date: 04-2010
Publisher: Elsevier BV
Date: 10-2011
Publisher: Informa UK Limited
Date: 25-04-2017
DOI: 10.1080/17549507.2017.1296191
Abstract: The aim of the current study was to investigate the risk factors present at 2 years for children who showed language difficulties that persisted from 2 to 10 years and difficulties that emerged later, at 10 years. Participants (n = 783) were drawn from the Raine Study in Western Australia. Patterns of change from 2 to 10 years were identified based on child performance on the Language Development Survey and the Clinical Evaluation of Language Fundamentals, respectively. Logistic regression analyses were conducted to test whether parental, family and child characteristics present at 2 years predicted poorer language outcomes at age 10. Across the 8 year period, 5.6% of the children displayed consistently low language skills, 5.9% improved skills and 23.2% deteriorated skills. Compared to children with consistently typical skills, the deteriorated group was more likely to have mothers who smoked during pregnancy, fathers with incomplete secondary education, low family income, poor early literacy environment and be male. Children showing consistently low language skills were more likely to have mothers who smoked during pregnancy than late talkers whose early delays improved. Results provide evidence of some modifiable risk factors at 2 years which are associated with language outcome.
Publisher: Springer Science and Business Media LLC
Date: 18-09-2013
Abstract: Social communication difficulties represent an autistic trait that is highly heritable and persistent during the course of development. However, little is known about the underlying genetic architecture of this phenotype. We performed a genome-wide association study on parent-reported social communication problems using items of the children’s communication checklist (age 10 to 11 years) studying single and/or joint marker effects. Analyses were conducted in a large UK population-based birth cohort (Avon Longitudinal Study of Parents and their Children, ALSPAC, N = 5,584) and followed-up within a s le of children with comparable measures from Western Australia (RAINE, N = 1364). Two of our seven independent top signals ( P- discovery .0E-05) were replicated (0.009 P- replication ≤0.02) within RAINE and suggested evidence for association at 6p22.1 (rs9257616, meta- P = 2.5E-07) and 14q22.1 (rs2352908, meta- P = 1.1E-06). The signal at 6p22.1 was identified within the olfactory receptor gene cluster within the broader major histocompatibility complex (MHC) region. The strongest candidate locus within this genomic area was TRIM27 . This gene encodes an ubiquitin E3 ligase, which is an interaction partner of methyl-CpG-binding domain (MBD) proteins, such as MBD3 and MBD4, and rare protein-coding mutations within MBD3 and MBD4 have been linked to autism. The signal at 14q22.1 was found within a gene-poor region. Single-variant findings were complemented by estimations of the narrow-sense heritability in ALSPAC suggesting that approximately a fifth of the phenotypic variance in social communication traits is accounted for by joint additive effects of genotyped single nucleotide polymorphisms throughout the genome (h 2 (SE) = 0.18(0.066), P = 0.0027). Overall, our study provides both joint and single-SNP-based evidence for the contribution of common polymorphisms to variation in social communication phenotypes.
Publisher: Wiley
Date: 08-07-2009
Publisher: Springer Science and Business Media LLC
Date: 31-01-2017
Publisher: Cambridge University Press (CUP)
Date: 11-2009
DOI: 10.1017/S1355617709990555
Abstract: In most in iduals, language production and visuospatial skills are subserved predominantly by the left and right hemispheres, respectively. Functional Transcranial Doppler (fTCD) provides a noninvasive and relatively low-cost method for measuring functional lateralization. However, while the silent word generation task provides an accurate and reliable paradigm for investigating lateralization of language production, there is no comparable gold-standard method for measuring visuospatial skills. Thirty undergraduate students (19 females) completed a task of spatial memory while undergoing fTCD recording. Participants completed this task at two different time points, separated by between 26 to 155 days. The relative activation between hemispheres averaged across all participants was found to be consistent across testing sessions. This was observed at the in idual level also, with a quantitative index of lateralization showing high reproducibility. These findings indicate that the use of the spatial memory task with fTCD is a robust methodology for examining laterality of visuospatial skills. ( JINS , 2009, 15 , 1028–1032.)
Publisher: Springer Science and Business Media LLC
Date: 24-08-2017
DOI: 10.1038/S41598-017-09939-Y
Abstract: Elevated prenatal testosterone exposure has been associated with Autism Spectrum Disorder (ASD) and facial masculinity. By employing three-dimensional (3D) photogrammetry, the current study investigated whether prepubescent boys and girls with ASD present increased facial masculinity compared to typically-developing controls. There were two phases to this research. 3D facial images were obtained from a normative s le of 48 boys and 53 girls (3.01–12.44 years old) to determine typical facial masculinity/femininity. The sexually dimorphic features were used to create a continuous ‘gender score’, indexing degree of facial masculinity. Gender scores based on 3D facial images were then compared for 54 autistic and 54 control boys (3.01–12.52 years old), and also for 20 autistic and 60 control girls (4.24–11.78 years). For each sex, increased facial masculinity was observed in the ASD group relative to control group. Further analyses revealed that increased facial masculinity in the ASD group correlated with more social-communication difficulties based on the Social Affect score derived from the Autism Diagnostic Observation Scale-Generic (ADOS-G). There was no association between facial masculinity and the derived Restricted and Repetitive Behaviours score. This is the first study demonstrating facial hypermasculinisation in ASD and its relationship to social-communication difficulties in prepubescent children.
Publisher: Wiley
Date: 04-06-2015
DOI: 10.1016/J.ADOLESCENCE.2015.05.007
Abstract: This study used prospective birth cohort data to analyse the relationship between peer aggression at 14 years of age and educational and employment outcomes at 17 years ( N = 1091) and 20 years ( N = 1003). Participants from the Western Australian Pregnancy Cohort (Raine) study were ided into mutually exclusive categories of peer aggression. Involvement in peer aggression was reported by 40.2% (10.1% victims 21.4% perpetrators 8.7% victim–perpetrators) of participants. Participants involved in any form of peer aggression were less likely to complete secondary school. Perpetrators and victim–perpetrators of peer aggression were more likely to be in the ‘No Education, Employment or Training’ group at 20 years of age. This association was explained by non‐completion of secondary school. These findings demonstrate a robust association between involvement in peer aggression and non‐completion of secondary school, which in turn was associated with an increased risk of poor educational and employment outcomes in early adulthood.
Publisher: Wiley
Date: 03-2011
Publisher: Wiley
Date: 26-04-2019
DOI: 10.1002/AUR.2101
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 12-05-2020
Publisher: Elsevier BV
Date: 05-2021
Publisher: BMJ
Date: 07-2021
DOI: 10.1136/BMJOPEN-2020-046830
Abstract: There are no well-established biomedical treatments for the core symptoms of autism spectrum disorder (ASD). A small number of studies suggest that repetitive transcranial magnetic stimulation (rTMS), a non-invasive brain stimulation technique, may improve clinical and cognitive outcomes in ASD. We describe here the protocol for a funded multicentre randomised controlled clinical trial to investigate whether a course of rTMS to the right temporoparietal junction (rTPJ), which has demonstrated abnormal brain activation in ASD, can improve social communication in adolescents and young adults with ASD. This study will evaluate the safety and efficacy of a 4-week course of intermittent theta burst stimulation (iTBS, a variant of rTMS) in ASD. Participants meeting criteria for Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition ASD (n=150, aged 14–40 years) will receive 20 sessions of either active iTBS (600 pulses) or sham iTBS (in which a sham coil mimics the sensation of iTBS, but no active stimulation is delivered) to the rTPJ. Participants will undergo a range of clinical, cognitive, epi/genetic, and neurophysiological assessments before and at multiple time points up to 6 months after iTBS. Safety will be assessed via a structured questionnaire and adverse event reporting. The study will be conducted from November 2020 to October 2024. The study was approved by the Human Research Ethics Committee of Monash Health (Melbourne, Australia) under Australia’s National Mutual Acceptance scheme. The trial will be conducted according to Good Clinical Practice, and findings will be written up for scholarly publication. Australian New Zealand Clinical Trials Registry (ACTRN12620000890932).
Publisher: BMJ
Date: 04-10-2012
Publisher: Elsevier BV
Date: 05-2021
Publisher: Oxford University Press (OUP)
Date: 28-08-2011
Abstract: The aim of this study was to determine the outcome benefits in those originally assigned atorvastatin in the Anglo-Scandinavian Cardiac Outcomes Trial-8 years after closure of the lipid-lowering arm (LLA) of the trial (ASCOT-LLA) among the U.K. population. ASCOT-LLA was a factorially designed double-blind placebo-controlled trial of atorvastatin in 10 305 hypertensive patients enrolled into the ASCOT-Blood Pressure Lowering Arm (BPLA) of the trial and with total cholesterol concentrations, at baseline, of <6.5 mmol/L. ASCOT-LLA was stopped prematurely after a median 3.3-year follow-up because of a 36% relative risk reduction (RRR) in non-fatal myocardial infarction and fatal coronary heart disease (CHD) (the primary outcome) in favour of atorvastatin and a non-significant reduction in CV deaths (16%) and all-cause mortality (13%). After a further 2.2 years at the end of ASCOT-BPLA, despite extensive crossovers from and to statin usage, the RRR in all endpoints remained essentially unchanged. A median 11 years after initial randomization and ∼8 years after closure of LLA, all-cause mortality (n=520 and 460 in placebo and atorvastatin, respectively) remained significantly lower in those originally assigned atorvastatin (HR 0.86, CI 0.76-0.98, P=0.02). CV deaths were fewer, but not significant (HR 0.89, CI 0.72-1.11, P=0.32) and non-CV deaths were significantly lower (HR 0.85, CI 0.73-0.99, P=0.03) in those formerly assigned atorvastatin attributed to a reduction in deaths due to infection and respiratory illness. Legacy effects of those originally assigned atorvastatin may contribute to long-term benefits on all-cause mortality. An explanation for long-term benefits on non-CV deaths has not been established.
Publisher: Cold Spring Harbor Laboratory
Date: 04-11-2021
DOI: 10.1101/2021.11.04.466897
Abstract: The use of spoken and written language is a capacity that is unique to humans. In idual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30-80%, depending on the trait. The relevant genetic architecture is complex, heterogeneous, and multifactorial, and yet to be investigated with well-powered studies. Here, we present a multicohort genome-wide association study (GWAS) of five traits assessed in idually using psychometric measures: word reading, nonword reading, spelling, phoneme awareness, and nonword repetition, with total s le sizes ranging from 13,633 to 33,959 participants aged 5-26 years (12,411 to 27,180 for those with European ancestry, defined by principal component analyses). We identified a genome-wide significant association with word reading (rs11208009, p=1.098 × 10 −8 ) independent of known loci associated with intelligence or educational attainment. All five reading-/language-related traits had robust SNP-heritability estimates (0.13–0.26), and genetic correlations between them were modest to high. Using genomic structural equation modelling, we found evidence for a shared genetic factor explaining the majority of variation in word and nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence and educational attainment. A multivariate GWAS was performed to jointly analyse word and nonword reading, spelling, and phoneme awareness, maximizing power for follow-up investigation. Genetic correlation analysis of multivariate GWAS results with neuroimaging traits identified association with cortical surface area of the banks of the left superior temporal sulcus, a brain region with known links to processing of spoken and written language. Analysis of evolutionary annotations on the lineage that led to modern humans showed enriched heritability in regions depleted of Neanderthal variants. Together, these results provide new avenues for deciphering the biological underpinnings of these uniquely human traits.
Publisher: American Thoracic Society
Date: 05-2014
Publisher: Elsevier BV
Date: 07-2008
DOI: 10.1016/J.JCOMDIS.2008.01.002
Abstract: Some children with autism demonstrate poor nonword repetition--a deficit considered to be a psycholinguistic marker of specific language impairment (SLI). The present study examined whether there is an SLI subtype among children with autism. We compared the language abilities of children with SLI (n=34, M age=11 S.D.=2 ), and children with autism with (Apoor, n=18, M age=10 S.D.=3 ) and without (Aapp, n=16, M age=10 S.D.=2 ) structural language difficulties. Participants were administered battery of standardized language and memory tests. Although there were some similarities in the language profile of the SLI and Apoor groups, the two groups differed on the tests of oromotor ability and verbal short-term memory and showed a different pattern of errors on the nonword repetition task. These findings providing evidence against the idea of an SLI subtype in autism. Further analyses suggested that the nonword repetition deficits experienced by some children with autism may arise when there is substantial impairment in multiple autistic domains. Readers will be introduced to (a) the current state of behavioral, cognitive and genetic research that has investigated the relation between SLI and autism, and (b) three hypotheses of why there exists similarity in the language characteristics of children with SLI and autism. Readers will then be taken through a detailed comparison of the language and memory abilities of group of children with each diagnosis. A theoretical model that seeks to explain the relation between these two disorders will be discussed.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 02-2017
Publisher: Elsevier BV
Date: 2019
Publisher: Springer Science and Business Media LLC
Date: 25-03-2014
DOI: 10.1007/S00737-014-0422-Y
Abstract: Pregnancy is a time of vulnerability for vitamin D insufficiency, and there is an emerging literature associating low levels of 25(OH)-vitamin D with depressive symptoms. However, the link between 25(OH)-vitamin D status in pregnancy and altered risk of postnatal depressive symptoms has not been examined. We hypothesise that low levels of 25(OH)-vitamin D in maternal serum during pregnancy will be associated with a higher incidence of postpartum depressive symptoms. We prospectively collected sera at 18 weeks gestation from 796 pregnant women in Perth (1989-1992) who were enrolled in the Western Australian Pregnancy Cohort (Raine) Study and measured levels of 25(OH)-vitamin D. Women reported postnatal depressive symptoms at 3 days post-delivery. Women in the lowest quartile for 25(OH)-vitamin D status were more likely to report a higher level of postnatal depression symptoms than women who were in the highest quartile for vitamin D, even after accounting for a range of confounding variables including season of birth, body mass index and sociodemographic factors. Low vitamin D during pregnancy is a risk factor for the development of postpartum depression symptoms.
Publisher: Springer Science and Business Media LLC
Date: 31-03-2020
Publisher: Wiley
Date: 14-08-2013
DOI: 10.1111/APA.12363
Abstract: The aim of this study was to investigate the association between diet during the first 3 years of life and cognitive outcomes at 10 years of age. The Raine Study is a longitudinal study of 2868 children and their families. Based on the foods reported to be eaten at age one, two and three, an Eating Assessment in Toddlers diet score was developed, consisting of seven components. Cognition was measured by the Peabody Picture Vocabulary Test-III (PPVT-III) and the Raven's Coloured Progressive Matrices at the 10-year follow-up. Associations were assessed in multivariate regression models. A higher Eating Assessment in Toddlers diet score at age one was associated with higher PPVT-III [β = 0.12 (0.05, 0.19), p = 0.001] and Raven's Coloured Progressive Matrices scores [β = 0.17 (0.02, 0.33), p = 0.025] at age ten after adjustments. Increased fruit consumption at age one was positively associated, while increased sweetened beverage consumption was negatively associated with cognitive development. Dairy consumption at ages two and three had positive associations with the PPVT-III and at age two with the Raven's Coloured Progressive Matrices. A better diet quality during the early years of life may have a positive effect on cognitive ability later in childhood.
Publisher: Springer Science and Business Media LLC
Date: 20-04-2023
DOI: 10.1007/S10803-022-05506-1
Abstract: This study examined whether parent-reported atypical development in their child’s first year was associated with age of diagnosis and age when parents first needed to consult a specialist about their child’s development. It involved 423 children who participated in the Australian Autism Biobank. Most parents retrospectively identified ≥ 1 domain of atypical child development. Atypical development in most domains was associated with an earlier age when parents felt specialist consultation was needed. Atypical development in the “gaze abnormalities”, “lack of response to social stimuli”, and “no social communication” subdomains within the social domain was associated with an earlier age of diagnosis, as was atypical development in the “hypo/hypersensitivity” and “preoccupation with parts of objects” subdomains within the stereotyped/restricted behavior domain.
Publisher: Elsevier BV
Date: 10-2022
DOI: 10.1016/J.RIDD.2022.104322
Abstract: To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities. Primary caregivers of 526 children with intellectual disability (age 5-18 years) and a diagnosis of cerebral palsy, autism spectrum disorder, Down syndrome, CDKL5 deficiency disorder or Rett syndrome completed the Quality of Life Inventory-Disability (QI-Disability) questionnaire. Latent profile analysis of the QI-Disability domain scores was conducted. The mean (SD) total QOL score was 67.8 (13.4), ranging from 60.3 (14.6) for CDD to 77.5 (11.7) for Down syndrome. Three classes describing domain scores were identified: Class 1 was characterised by higher domain scores overall but poorer negative emotions scores Class 2 by average to high scores for most domains but low independence scores and Class 3 was characterised by low positive emotions, social interaction, and leisure and the outdoors scores, and extremely low independence scores. The majority of in iduals with autism spectrum disorder and Down syndrome belonged to Class 1 and the majority with CDKL5 deficiency disorder belonged to Class 3. Those with better functional abilities (verbal communication and independent walking were predominately members of Class 1 and those with frequent seizures were more often members of Class 2 and 3. The profiles illustrated variation in QOL across a erse group of children. QOL evaluations illustrate areas where interventions could improve QOL and provide advice to families as to where efforts may be best directed.
Publisher: Wiley
Date: 21-12-2016
DOI: 10.1002/AJMG.A.37500
Abstract: Rett syndrome is a neurodevelopmental disorder mainly affecting females and associated with a mutation on the MECP2 gene. There has been no systematic evaluation of the domains of quality of life (QOL) in Rett syndrome. The aims of this study were to explore QOL in school-aged children with Rett syndrome and compare domains with those identified in other available QOL scales. The s le comprised 21 families registered with the Australian Rett Syndrome Database whose daughter with Rett syndrome was aged 6-18 years. Semi-structured telephone interviews were conducted with each parent caregiver (19 mothers, 2 fathers) to investigate aspects of their daughter's life that were satisfying or challenging to her. Qualitative thematic analysis using a grounded theory framework was conducted, and emerging domains compared with those in two generic and three disability parent-report child QOL measures. Ten domains were identified: physical health, body pain, and discomfort, behavioral and emotional well-being, communication skills, movement and mobility, social connectedness, variety of activities, provision of targeted services, stability of daily routines, and the natural environment. The two latter domains were newly identified and each domain contained elements not represented in the comparison measures. Our data articulated important aspects of life beyond the genetic diagnosis. Existing QOL scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome. Our findings support the construction of a new parent-report measure to enable measurement of QOL in this group.
Publisher: Public Library of Science (PLoS)
Date: 04-08-2011
Publisher: Elsevier BV
Date: 11-2022
DOI: 10.1016/J.TINS.2022.08.009
Abstract: The past three decades have seen a major shift in our understanding of the strong links between autism and identity. These developments have called for careful consideration of the language used to describe autism. Here, we briefly discuss some of these deliberations and provide guidance to researchers around language use in autism research.
Publisher: SAGE Publications
Date: 22-10-2020
Abstract: Often included within ‘high-risk sibling’ studies, the Autism Observation Scale for Infants (AOSI) has only one independent replication study and no evaluation with community-ascertained cohorts. We administered the AOSI and established clinical measures with 103 infants (68% male) at ‘high autism likelihood’ on the Social Attention and Communication Surveillance - Revised (SACS-R) tool, at 9–14 months of age and again 6 months later. AOSI Total scores showed adequate internal consistency and strong inter-rater agreement (live- or video-coded) and were approximately normally distributed at each visit. Modest significant associations presented between Time 1 AOSI scores and concurrent developmental/adaptive skills measures. Concurrent associations were stronger at Time 2, particularly between AOSI Total and Autism Diagnostic Observation Schedule (ADOS) Social Affect scores. AOSI scores were only moderately associated across Time 1 and 2 assessments, as were Time 1 AOSI with Time 2 ADOS scores. These data from a clinically indicated cohort broadly replicate previous AOSI validity accounts from ‘high-risk sibling’ studies, particularly beyond the first year. Strong inter-rater agreement indicates viable AOSI inclusion within protocols necessitating blinded evaluation (e.g. intervention trials). Moderate within-participant stability suggests that, like ‘high-risk siblings,’ community-ascertained infants experience variable early trajectories. We investigated whether a commonly used research assessment – the Autism Observation Scale for Infants (AOSI) – accurately measures autism behaviours among infants showing early signs of autism identified within the community. The AOSI is often included in studies tracking the development of infants at increased likelihood of autism, such as the infant siblings of diagnosed children. However, the suitability of this measure has not previously been tested with community-referred infants. We administered the AOSI with infants when aged 9 to 14 months and again 6 months later. Our researchers – independent of the AOSI development team and newly trained on this measure – were able to administer the brief interactive assessment and score it accurately. The infants’ AOSI scores were linked to their scores on other established and validated clinical assessments, particularly at the second visit when average age was 18 months. Stronger correspondence of AOSI and other scores at this second visit suggests early autism behaviours are better established and more consistent by 18 months of age, even though these infants showed clear enough signs of possible autism to prompt referral to our study around 12 months of age. However, the moderate association of AOSI scores over time suggests that, like infant siblings – who mostly do not develop autism – community-identified infants showing early signs may also have variable developmental pathways in early life.
Publisher: Springer Science and Business Media LLC
Date: 16-11-2020
Publisher: Springer Science and Business Media LLC
Date: 13-04-2023
DOI: 10.1007/S10803-023-05977-W
Abstract: The Repetitive Behaviours Questionnaire for Adults (RBQ-2A) measures two factors of restricted and repetitive behaviours (RRBs) associated with autism. However, the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) provides four criteria for RRBs: repetitive motor behaviours, insistence on sameness, restricted interests, and interest in sensory aspects of the environment (or atypical sensitivity). The current paper aimed to examine whether the RBQ-2A is a psychometrically sound measure of these four factors. Study 1 had university students ( N = 368) complete the RBQ-2A and other related measures online and revealed that the RBQ-2A can assess the factors highlighted in the DSM-5 and that these four factors comprise a general RRB construct. Study 2 had in iduals disclosing a diagnosis of autism ( N = 283) complete the RBQ-2A and other related measures online and supported that this four-factor structure provided good psychometric properties. While the current paper provides findings for an online autistic population, further research is needed to generalize these findings to autistic in iduals less likely to partake in online studies (e.g., those with intellectual or language disabilities). Overall, the results suggest that the RBQ-2A reliably and validly assesses RRBs.
Publisher: Wiley
Date: 2017
DOI: 10.1002/AUR.1740
Abstract: The increasing prevalence of Autism Spectrum Disorders (ASD) may in part be due to a shift in the diagnostic threshold that has led to in iduals with a less severe behavioral phenotype receiving a clinical diagnosis. This study examined whether there were changes over time in the qualitative and quantitative phenotype of in iduals who received the diagnosis of Autistic Disorder. Data were from a prospective register of new diagnoses in Western Australia (n = 1252). From 2000 to 2006, we examined differences in both the percentage of newly diagnosed cases that met each criterion as well as severity ratings of the behaviors observed (not met, partially met, mild/moderate and extreme). Linear regression determined there was a statistically significant reduction from 2000 to 2006 in the percentage of new diagnoses meeting two of 12 criteria. There was also a reduction across the study period in the proportion of new cases rated as having extreme severity on six criteria. There was a reduction in the proportion of in iduals with three or more criteria rated as extreme from 2000 (16.0%) to 2006 (1.6%), while percentage of new cases with no "extreme" rating on any criteria increased from 58.5% to 86.6% across the same period. This study provides the first clear evidence of a reduction over time in the behavioral severity of in iduals diagnosed with Autistic Disorder during a period of stability in diagnostic criteria. A shift toward diagnosing in iduals with less severe behavioral symptoms may have contributed to the increasing prevalence of Autistic Disorder diagnoses. Autism Res 2017, 10: 179-187. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Publisher: MDPI AG
Date: 26-11-2021
DOI: 10.3390/NU13124254
Abstract: Preecl sia is a pregnancy disorder characterized by hypertension. Epidemiological studies have associated preecl sia with an increased risk of neurodevelopmental disorders in offspring, such as autism and schizophrenia. Preecl sia has also been linked with maternal vitamin D deficiency, another candidate risk factor also associated with autism. Our laboratory has established a gestational vitamin-D-deficient rat model that shows consistent and robust behavioural phenotypes associated with autism- and schizophrenia-related animal models. Therefore, we explored here whether this model also produces preecl sia as a possible mediator of behavioural phenotypes in offspring. We showed that gestational vitamin D deficiency was not associated with maternal blood pressure or proteinuria during late gestation. Maternal and placental angiogenic and vasculogenic factors were also not affected by a vitamin-D-deficient diet. We further showed that exposure to low vitamin D levels did not expose the placenta to oxidative stress. Overall, gestational vitamin D deficiency in our rat model was not associated with preecl sia-related features, suggesting that well-described behavioural phenotypes in offspring born to vitamin-D-deficient rat dams are unlikely to be mediated via a preecl sia-related mechanism.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 10-2014
Publisher: BMJ
Date: 06-06-2013
Publisher: Elsevier BV
Date: 08-2010
DOI: 10.1016/J.EARLHUMDEV.2010.06.009
Abstract: There is accumulating evidence for a link between maternal stress during pregnancy and later behavioural and emotional problems in children. Little research has examined other developmental outcomes. To determine the effect of maternal stress during pregnancy on offspring language ability in middle childhood. Longitudinal pregnancy cohort-study. A total of 2900 mothers were recruited prior to the 18th week of pregnancy, delivering 2868 live births. The language ability of just under half of the offspring cohort (n=1309 45.6% of original s le) was assessed in middle childhood (Mean age=10 , Standard deviation=0 , range: 9 -11 ). Language ability was measured using the Peabody Picture Vocabulary Test-Revised (PPVT-R). The main predictor variable was the frequency of 10 typically 'stressful' life events experienced by mothers during early and/or late pregnancy. Children were allocated to four groups according to whether they were exposed to high maternal stress (>or=2 life events) during early pregnancy only, late pregnancy only, both, or neither. Mixed-effects regression analyses revealed no association between the maternal experience of two or more stressful life events at any time-point during pregnancy and PPVT-R scores. Repeating the regression analyses with more lenient (>or=1 life events) or strict (>or=3 life events) thresholds for defining high-levels of maternal stress did not alter the pattern of findings. Maternal experience of typically stressful life events during pregnancy has a negligible effect on vocabulary development to middle childhood.
Publisher: Elsevier BV
Date: 07-2021
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 06-2014
DOI: 10.1097/ALN.0000000000000248
Abstract: Immature animals exposed to anesthesia display apoptotic neurodegeneration and neurobehavioral deficits. The safety of anesthetic agents in children has been evaluated using a variety of neurodevelopmental outcome measures with varied results. The authors used data from the Western Australian Pregnancy Cohort (Raine) Study to examine the association between exposure to anesthesia in children younger than 3 yr of age and three types of outcomes at age of 10 yr: neuropsychological testing, International Classification of Diseases, 9th Revision, Clinical Modification–coded clinical disorders, and academic achievement. The authors’ primary analysis was restricted to children with data for all outcomes and covariates from the total cohort of 2,868 children born from 1989 to 1992. The authors used a modified multivariable Poisson regression model to determine the adjusted association of anesthesia exposure with outcomes. Of 781 children studied, 112 had anesthesia exposure. The incidence of deficit ranged from 5.1 to 7.8% in neuropsychological tests, 14.6 to 29.5% in International Classification of Diseases, 9th Revision, Clinical Modification–coded outcomes, and 4.2 to 11.8% in academic achievement tests. Compared with unexposed peers, exposed children had an increased risk of deficit in neuropsychological language assessments (Clinical Evaluation of Language Fundamentals Total Score: adjusted risk ratio, 2.47 95% CI, 1.41 to 4.33, Clinical Evaluation of Language Fundamentals Receptive Language Score: adjusted risk ratio, 2.23 95% CI, 1.19 to 4.18, and Clinical Evaluation of Language Fundamentals Expressive Language Score: adjusted risk ratio, 2.00 95% CI, 1.08 to 3.68) and International Classification of Diseases, 9th Revision, Clinical Modification–coded language and cognitive disorders (adjusted risk ratio, 1.57 95% CI, 1.18 to 2.10), but not academic achievement scores. When assessing cognition in children with early exposure to anesthesia, the results may depend on the outcome measure used. Neuropsychological and International Classification of Diseases, 9th Revision, Clinical Modification–coded clinical outcomes showed an increased risk of deficit in exposed children compared with that in unexposed children, whereas academic achievement scores did not. This may explain some of the variation in the literature and underscores the importance of the outcome measures when interpreting studies of cognitive function.
Publisher: Wiley
Date: 27-04-2018
DOI: 10.1111/JCPP.12924
Abstract: The neuropeptide and hormone oxytocin is known to have a significant impact on social cognition and behaviour in humans. There is growing concern regarding the influence of exogenous oxytocin (OT) administration in early life on later social and emotional development, including autism spectrum disorder (ASD). No study has examined offspring development in relation to the dose of exogenous oxytocin administered during labour. Between 1989 and 1992, 2,900 mothers were recruited prior to the 18th week of pregnancy, delivering 2,868 live offspring. The Child Behaviour Checklist was used to measure offspring behavioural difficulties at ages 5, 8, 10, 14 and 17 years. Autism spectrum disorder was formally diagnosed by consensus of a team of specialists. At 20 years, offspring completed a measure of autistic-like traits, the Autism Spectrum Quotient (AQ). Oxytocin exposure prior to birth was analysed using categorical and continuous approaches (maternal oxytocin dose) with univariate and multivariate statistical techniques. Categorical analyses of oxytocin exposure prior to birth demonstrated no group differences in any measures of child behaviour. A small in magnitude dose-response association was observed for clinically significant total behaviour symptoms (adjusted odds ratio 1.03 95% CI: 1.01-1.06, p < .01). Exogenous oxytocin administration prior to birth was not associated with ASD (OR: 0.64 95% CI: 0.15-2.12, p = .46) or high levels of autistic-like traits (p = .93), as assessed by the AQ. This study is the first to investigate longitudinal mental health outcomes associated with the use of oxytocin-based medications during labour. The results do not provide evidence to support the theory that exogenous OT has a clinically significant negative impact on the long-term mental health of children.
Publisher: Public Library of Science (PLoS)
Date: 09-03-2017
Publisher: Wiley
Date: 04-05-2021
DOI: 10.1111/CCH.12873
Abstract: Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met. Primary caregivers of 447 children (aged 5–19 years) with an intellectual disability reported on their child's medical comorbidities and the extent to which they perceived their child's medical needs had been met in a cross‐sectional observational study. The Quality of Life Inventory‐Disability was used to measure QOL on a 100‐point scale. Linear regression models including interaction terms were used to evaluate their associations. Parent‐reported recurrent child pain (−4.97, 95% CI −8.21, −1.72), night‐time sleep disturbances (−4.98, 95% CI −7.23, −2.73), daytime somnolence (−8.71, 95% CI −11.30, −2.73), seizures that occurred at least weekly (−7.59, 95% CI −13.50, −1.68) and conservatively managed severe scoliosis (−7.39, 95% CI −12.97, −1.81) were negatively associated with child QOL. Despite the majority of parents (~70%) perceiving that their child's medical needs had been met to a great extent, this did not significantly moderate the association between any comorbidities and QOL. Comorbidities were common and had marked associations with QOL. Evaluation and management of pain and sleep disturbance continue to be high priorities in improving QOL of young people with intellectual disabilities. Further research on the optimal methods of managing these comorbidities is warranted.
Publisher: No publisher found
Date: 2017
Publisher: SAGE Publications
Date: 19-09-2019
Abstract: Contemporary parent-implemented early intervention programs for children with autism spectrum disorder usually incorporate a range of techniques with different theoretical underpinnings. While research suggests that parents often learn to implement interventions with an acceptable degree of overall fidelity, there is limited research into parent use of in idual intervention techniques. This study included five mothers of young children with autism spectrum disorder who participated in a 12-week parent training program based on the Early Start Denver Model. Ten-minute play s les were coded for the mothers’ use of 18 specific Early Start Denver Model techniques before, during, and 1 month after the training program. The correlation between the mothers’ use of each Early Start Denver Model technique and their child’s level of engagement and expressive language was also calculated. Results suggest that all mothers increased the number of techniques that they were using from baseline to parent training. Some Early Start Denver Model techniques were moderately or strongly correlated with both child engagement and expressive language. There was considerable variation in outcomes across all mother–child dyads. These preliminary results have implications for how parents are trained/coached to implement interventions for young children with autism spectrum disorder. Parents of young children with autism are often taught to deliver interventions which involve several different types of strategies. Research suggests that parents can usually learn to deliver these interventions but not much is known about their use of each specific intervention strategy. This study included five mothers of young children with autism who participated in a 12-week parent training program based on the Early Start Denver Model. We measured their use of 18 different ESDM strategies before, during, and 1 month after the training program. We found that parents increased the number of strategies that they used during the training program. There were differences between mothers in terms of the ESDM strategies that they used the most during the training. We also found that some of the strategies were more closely related to children’s levels of engagement and language than others. This suggests that parent training should be adapted to suit each parent’s needs.
Publisher: Springer Science and Business Media LLC
Date: 07-06-2015
Publisher: Wiley
Date: 09-10-2015
DOI: 10.1111/JPC.12741
Abstract: To describe the prevalence and risk factors of recurrent otitis media (rOM) in an urban Australian population at 3 years of age. Cross-sectional examination of prevalence and risk factors of rOM in 2280 participants from the Raine Study enrolled from public and private hospitals in Perth, Western Australia, between 1989 and 1991. Parental report questionnaires at 3 years of age were used for rOM identification, with secondary confirmation by otoscopic examination at 1, 2 or 3 years of age. The prevalence of parent-reported rOM was 26.8% (611/2280) and 5.5% (125/2280) for severe rOM in the Study. Independent associations were found between rOM and the presence of older siblings, attendance at day care and the introduction of other milk products at ≤4 months of age. Independent associations for severe rOM were the presence of allergies and attendance at day care. Prevalence rates of rOM within the Raine Study children are similar to a number of other known cohorts. Parity, presence of allergies, attendance at day care and introduction of other milk products at ≤4 months are highlighted as specific risk factors for rOM in this population and presence of allergies and attendance at day care being risk factors for severe rOM. Diagnosis of rOM by parent report and the delay between data collection and reporting are limitations of this study. However, as there is very limited data on OM in urban, non-Indigenous Australian children, this study improves our understanding of OM for this group.
Publisher: Springer Science and Business Media LLC
Date: 06-04-2022
Publisher: Wiley
Date: 21-06-2019
DOI: 10.1002/AUR.2161
Abstract: A key research priority in the study of autism spectrum conditions (ASC) is the discovery of biological markers that may help to identify and elucidate etiologically distinct subgroups. One physical marker that has received increasing research attention is facial structure. Although there remains little consensus in the field, findings relating to greater facial asymmetry (FA) in ASC exhibit some consistency. As there is growing recognition of the importance of replicatory studies in ASC research, the aim of this study was to investigate the replicability of increased FA in autistic children compared to nonautistic peers. Using three-dimensional photogrammetry, this study examined FA in 84 autistic children, 110 typically developing children with no family history of the condition, and 49 full siblings of autistic children. In support of previous literature, significantly greater depth-wise FA was identified in autistic children relative to the two comparison groups. As a further investigation, increased lateral FA in autistic children was found to be associated with greater severity of ASC symptoms on the Autism Diagnostic Observation Schedule, second edition, specifically related to repetitive and restrictive behaviors. These outcomes provide an important and independent replication of increased FA in ASC, as well as a novel contribution to the field. Having confirmed the direction and areas of increased FA in ASC, these findings could motivate a search for potential underlying brain dysmorphogenesis. Autism Res 2019, 12: 1774-1783. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study looked at the amount of facial asymmetry (FA) in autistic children compared to typically developing children and children who have siblings with autism. The study found that autistic children, compared to the other two groups, had greater FA, and that increased FA was related to greater severity of autistic symptoms. The face and brain grow together during the earliest stages of development, and so findings of facial differences in autism might inform future studies of early brain differences associated with the condition.
Publisher: American Academy of Pediatrics (AAP)
Date: 2015
Abstract: Birth cohort studies provide an invaluable resource for studies of the influence of the fetal environment on health in later life. It is uncertain to what extent maternal vitamin D status influences fetal development. Using an unselected community-based cohort of 901 mother-offspring pairs (the Western Australian Pregnancy Cohort [Raine] Study), we examined the relationship between maternal vitamin D deficiency at 18 weeks’ pregnancy and long-term health outcomes of offspring who were born in Perth, Western Australia (32° South), in 1989–1991. Vitamin D deficiency (serum 25-hydroxyvitamin D [25(OH)D] & nmol/L) was present in 36% (323 of 901) of the pregnant women. After adjusting for relevant covariates, maternal vitamin D deficiency during pregnancy was associated with impaired lung development in 6-year-old offspring, neurocognitive difficulties at age 10, increased risk of eating disorders in adolescence, and lower peak bone mass at 20 years. In summary, vitamin D may have an important, multifaceted role in the development of fetal lungs, brain, and bone. Experimental animal studies support an active contribution of vitamin D to organ development. Randomized controlled trials of vitamin D supplementation in pregnant women with long-term follow-up of offspring are urgently required to examine whether the correction of vitamin D deficiency in pregnant women is beneficial for their offspring and to determine the optimal level of maternal serum 25(OH)D for fetal development.
Publisher: Wiley
Date: 11-2009
DOI: 10.1002/DYS.378
Abstract: In iduals with dyslexia are at an increased risk for anxiety disorders (e.g. generalized anxiety disorder, stress disorders, panic disorder). The extent to which this association is mediated by genetic and/or environmental influences is unclear. The current study explored the relationship between these two phenotypes using a large population-based twin s le. In total, 940 monozygotic and 903 dizygotic female twin pairs were included in the analyses. The presence of dyslexia and anxiety was determined by self-report of diagnosis by a health professional. Tetrachoric correlations confirmed an association between the two phenotypes, but suggested that there was no evidence for shared genetic risks. Bivariate twin modelling corroborated this finding and indicated the relationship between dyslexia and anxiety is mediated by shared environmental factors. Future research should seek to identifying the environmental factors that increase the vulnerability of in iduals with dyslexia to emotional problems should be a priority for future research.
Publisher: Oxford University Press (OUP)
Date: 25-10-2008
DOI: 10.1093/BRAIN/AWN266
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 04-2013
Publisher: Wiley
Date: 26-07-2017
DOI: 10.1111/CCH.12501
Abstract: Although it is estimated that half of all children with cerebral palsy also have comorbid intellectual disability, the domains of quality of life (QOL) important for these children are not well understood. The aim of this study was to identify important domains of QOL for these children and adolescents. Due to the children's communication impairments, qualitative semi-structured interviews were conducted with 18 parents. The children (9 males) had a median age of 12 (range 7 to 17) years at interview and nearly two thirds were classified as Gross Motor Function Classification System IV or V. A grounded theory approach was used to identify domains of QOL. The 11 domains identified as important to QOL were physical health, body comfort, behaviour and emotion, communication, predictability and routine, movement and physical activity, nature and outdoors, variety of activity, independence and autonomy, social connectedness, and access to services. The domains of QOL that emerged from this study will be useful for professionals who support children with cerebral palsy and their families. They will also be important for developing a QOL instrument essential for informing the development of interventions and their monitoring and evaluation.
Publisher: Wiley
Date: 07-07-2016
DOI: 10.1002/AUR.1518
Abstract: Numerous studies have observed that a proportion of infants later diagnosed with autism spectrum disorder (ASD) experience accelerated head growth during the first years of life. An emerging methodology for examining the developmental trajectory prior to a diagnosis of ASD is to investigate siblings of affected in iduals. The current study is the first prospective investigation of fetal growth in siblings of children with ASD. Two groups of pregnant women were recruited as part of the PRegnancy Investigation of Siblings and Mothers of children with autism cohort in Perth, Western Australia. The "high risk" group (n = 23) comprised pregnant women who have an existing child with a diagnosis of ASD and the "low risk" group (n = 36) comprised pregnant mothers who have an existing child who has developed typically. Prenatal ultrasounds were procured at multiple time-points throughout the second- and third-trimesters, enabling an examination of growth trajectories. Growth measurements were then compared for the high- and low-risk fetuses. Mixed linear regression models identified no significant differences between the high- and low-risk fetuses in the rate of prenatal head and body growth throughout the second- and third-trimester (all P-values >0.05). Similarly, there were no significant differences observed when comparing high and low risk groups on a ratio of head circumference relative to body size (β = -0.019, P = 0.75). Future studies may consider looking beyond the macro architecture of the prenatal brain and examine the growth of brain subregions that have been implicated in the presentation of ASD symptoms.
Publisher: Springer Science and Business Media LLC
Date: 16-03-2022
DOI: 10.1007/S40489-022-00309-7
Abstract: Early identification and intervention are recognised as important elements of the clinical pathway for autism spectrum disorder (ASD). Children with ASD and attention deficit hyperactivity disorder (ADHD) may be diagnosed at a different age than children who only have one of these diagnoses. This systematic review aimed to identify the age at which children were diagnosed with both ASD and ADHD. Of the 9552 articles screened, 12 were included in the review. The findings suggest that ASD is typically diagnosed later when ADHD is present, and ADHD is typically diagnosed earlier when ASD is present. Further research is needed to understand the factors impacting a delayed ASD diagnosis and an earlier ADHD diagnosis when the two conditions co-occur.
Publisher: Informa UK Limited
Date: 27-02-2019
DOI: 10.1080/17518423.2018.1440259
Abstract: As computer-based interventions become commonplace for parents of children with neurodevelopmental disorders, this study sought to understand the experience of using a parent-delivered supplementary early intervention therapy for children with autism spectrum disorder grounded in a variety of behavioral, sensory, developmental, and relationship-based approaches and delivered via a tablet device. Parental experiences using the 'Therapy Outcomes by You' (TOBY) application were collected through semi-structured interviews with 17 parents. Parents reported TOBY facilitated parent-child engagement, provided ideas for therapeutic activities, created feelings of empowerment, and positively impacted their child's development. Barriers to use included preparation time, execution of the intervention, and in idual strengths and weaknesses of their child. The overall parental experience of TOBY was positive when use of the application aligned with parental proficiency, opportunities for use, and importantly, the needs of the child.
Publisher: Wiley
Date: 07-06-2023
DOI: 10.1111/PPE.12987
Abstract: The effect of prenatal marijuana exposure (PME) on child neurodevelopment remains poorly understood. Prior studies have demonstrated inconsistent results. This study evaluated the association between PME and neuropsychological test scores in late childhood and early adulthood, accounting for a wide range of parental characteristics. This study evaluated participants from the Raine Study, a cohort of 2868 children born between 1989 and 1992. Children whose mothers provided information on marijuana use during pregnancy were included. The primary outcome was the Clinical Evaluation of Language Fundamentals (CELF) at age 10. Secondary outcomes included the Peabody Picture Vocabulary Test (PPVT), Child Behaviour Checklist (CBCL), McCarron Assessment of Neuromuscular Development (MAND), Coloured Progressive Matrices (CPM), Symbol Digit Modality Test (SDMT) and Autism Spectrum Quotient (AQ) scores. Exposed and unexposed children were matched by propensity score using optimal full matching. Missing covariate data were imputed using multiple imputation. Inverse probability of censoring weighting (IPCW) was used to adjust for missing outcome data. Linear regression within matched sets, adjusted by IPCW, evaluated score differences between exposed and unexposed children. As a secondary analysis, modified Poisson regression, adjusted by match weights and IPCW, evaluated the risk of clinical deficit in each outcome following PME. Of the 2804 children in this cohort, 285 (10.2%) had PME. After optimal full matching and IPCW, exposed children scored similarly on CELF Total (−0.33 points, 95% confidence interval [CI] −4.71, 4.05), Receptive (+0.65 points, 95% CI −4.08, 5.38) or Expressive (−0.53 points, 95% CI −5.07, 4.02). PME was not associated with secondary outcomes or risks of clinical deficit in any neuropsychological assessments. After adjusting for sociodemographic and clinical covariates, PME was not associated with worse neuropsychological test scores at age 10 or autistic traits at 19–20.
Publisher: Cambridge University Press (CUP)
Date: 06-2021
DOI: 10.1017/S0033291720001580
Abstract: Emerging research suggests that maternal immune activation (MIA) may be associated with an increased risk of adverse neurodevelopmental and mental health outcomes in offspring. Using data from the Raine Study, we investigated whether MIA during pregnancy was associated with increased behavioral and emotional problems in offspring longitudinally across development. Mothers (Generation 1 N = 1905) were classified into the following categories: AAAE (Asthma/Allergy/Atopy/Eczema N = 1267) infection (during pregnancy N = 1082) no AAAE or infection ( N = 301). The Child Behavior Checklist (CBCL) was administered for offspring at ages 5, 8, 10, 14, and 17. Generalized estimating equations were used to investigate the effect of maternal immune status on CBCL scores. AAAE conditions were associated with significant increases in CBCL Total ( β 2.49 CI 1.98–3.00), Externalizing ( β 1.54 CI 1.05–2.03), and Internalizing ( β 2.28 CI 1.80–2.76) scores. Infection conditions were also associated with increased Total ( β 1.27 CI 0.77–1.78), Externalizing ( β 1.18 CI 0.70–1.66), and Internalizing ( β 0.76 CI 0.28–1.24) scores. Exposure to more than one AAAE and/or infection condition was associated with a greater elevation in CBCL scores than single exposures in males and females. Females showed greater increases on the Internalizing scale from MIA, while males showed similar increases on both Internalizing and Externalizing scales. MIA was associated with increased behavioral and emotional problems in offspring throughout childhood and adolescence. This highlights the need to understand the relationship between MIA, fetal development, and long-term outcomes, with the potential to advance early identification and intervention strategies.
Publisher: Wiley
Date: 13-02-2023
DOI: 10.1111/CDEV.13914
Abstract: Handedness has been studied for association with language‐related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small s les, publication bias, and heterogeneous criteria across studies. Non‐right‐handedness (NRH) frequency was assessed in N = 2503 cases with reading and/or language impairment and N = 4316 sex‐matched controls identified from 10 distinct cohorts (age range 6–19 years old European ethnicity) using a priori set criteria. A meta‐analysis ( N cases = 1994) showed elevated NRH % in in iduals with language/reading impairment compared with controls (OR = 1.21, CI = 1.06–1.39, p = .01). The association between reading/language impairments and NRH could result from shared pathways underlying brain lateralization, handedness, and cognitive functions.
Publisher: SAGE Publications
Date: 19-06-2020
Abstract: ‘High functioning autism’ is a term often used for in iduals with autism spectrum disorder without an intellectual disability. Over time, this term has become synonymous with expectations of greater functional skills and better long-term outcomes, despite contradictory clinical observations. This study investigated the relationship between adaptive behaviour, cognitive estimates (intelligence quotient) and age at diagnosis in autism spectrum disorder. Participants ( n = 2225, 1–18 years of age) were notified at diagnosis to a prospective register and grouped by presence ( n = 1041) or absence ( n = 1184) of intellectual disability. Functional abilities were reported using the Vineland Adaptive Behaviour Scales. Regression models suggested that intelligence quotient was a weak predictor of Vineland Adaptive Behaviour Scales after controlling for sex. Whereas the intellectual disability group’s adaptive behaviour estimates were close to reported intelligence quotients, Vineland Adaptive Behaviour Scales scores fell significantly below intelligence quotients for children without intellectual disability. The gap between intelligence quotient and Vineland Adaptive Behaviour Scales scores remained large with increasing age at diagnosis for all children. These data indicate that estimates from intelligence quotient alone are an imprecise proxy for functional abilities when diagnosing autism spectrum disorder, particularly for those without intellectual disability. We argue that ‘high functioning autism’ is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations and this term should be abandoned in research and clinical practice.
Publisher: Cold Spring Harbor Laboratory
Date: 13-09-2020
DOI: 10.1101/2020.09.11.20175026
Abstract: Internalising symptoms in childhood and adolescence are as heritable as adult depression and anxiety, yet little is known of their molecular basis. This genome-wide association meta-analysis of internalising symptoms included repeated observations from 64,641 in iduals, aged between 3 and 18. The N-weighted meta-analysis of overall internalising symptoms (INT overall ) detected no genome-wide significant hits and showed low SNP heritability (1.66%, 95% confidence intervals 0.84-2.48%, N effective =132,260). Stratified analyses indicated rater-based heterogeneity in genetic effects, with self-reported internalising symptoms showing the highest heritability (5.63%, 95% confidence intervals 3.08-8.18%). Additive genetic effects on internalising symptoms appeared stable over age, with overlapping estimates of SNP heritability from early-childhood to adolescence. Genetic correlations were observed with adult anxiety, depression, and the wellbeing spectrum (| r g | 0.70), as well as with insomnia, loneliness, attention-deficit hyperactivity disorder, autism, and childhood aggression (range | r g |=0.42-0.60), whereas there were no robust associations with schizophrenia, bipolar disorder, obsessive-compulsive disorder, or anorexia nervosa. The pattern of genetic correlations suggests that childhood and adolescent internalising symptoms share substantial genetic vulnerabilities with adult internalising disorders and other childhood psychiatric traits, which could partially explain both the persistence of internalising symptoms over time and the high comorbidity amongst childhood psychiatric traits. Reducing phenotypic heterogeneity in childhood s les will be key in paving the way to future GWAS success.
Publisher: Wiley
Date: 19-10-2010
Publisher: Springer Science and Business Media LLC
Date: 15-04-2015
Publisher: SAGE Publications
Date: 18-05-2023
Publisher: Springer Science and Business Media LLC
Date: 23-04-2011
DOI: 10.1007/S10803-010-1019-6
Abstract: Fetal head circumference (HC) growth was examined prospectively in children with autism spectrum disorder (ASD). ASD participants (N = 14) were each matched with four control participants (N = 56) on a range of parameters known to influence fetal growth. HC was measured using ultrasonography at approximately 18 weeks gestation and again at birth using a paper tape-measure. Overall body size was indexed by fetal femur-length and birth length. There was no between-groups difference in head circumference at either time-point. While a small number of children with ASD had disproportionately large head circumference relative to body size at both time-points, the between-groups difference did not reach statistical significance in this small s le. These preliminary findings suggest that further investigation of fetal growth in ASD is warranted.
Publisher: Springer Science and Business Media LLC
Date: 26-04-2013
DOI: 10.1007/S10803-013-1838-3
Abstract: Extensive empirical evidence indicates that the lesser variant of Autism Spectrum Disorders (ASD) involves a communication impairment that is similar to, but milder than, the deficit in clinical ASD. This research explored the relationship between the broader autism phenotype (BAP) among parents, an index of genetic liability for ASD, and proband communication difficulties. ASD probands with at least one BAP parent (identified using the Autism Spectrum Quotient) had greater structural and pragmatic language difficulties (assessed using the Children's Communication Checklist-2) than ASD probands with no BAP parent. This finding provides support for the position that genetic liability for ASD is associated with increased communication difficulties across structural and pragmatic domains.
Publisher: Frontiers Media SA
Date: 2013
Publisher: Elsevier BV
Date: 09-2023
Publisher: Public Library of Science (PLoS)
Date: 14-06-2018
Publisher: Springer Science and Business Media LLC
Date: 04-2023
DOI: 10.1038/S41591-023-02271-1
Abstract: Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for ex le, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome (783 lipid species) in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank. We identified lipids associated with ASD diagnosis ( n = 8), sleep disturbances ( n = 20) and cognitive function ( n = 8) and found that long-chain polyunsaturated fatty acids may causally contribute to sleep disturbances mediated by the FADS gene cluster. We explored the interplay of environmental factors with neurodevelopment and the lipidome, finding that sleep disturbances and unhealthy diet have a convergent lipidome profile (with potential mediation by the microbiome) that is also independently associated with poorer adaptive function. In contrast, ASD lipidome differences were accounted for by dietary differences and sleep disturbances. We identified a large chr19p13.2 copy number variant genetic deletion spanning the LDLR gene and two high-confidence ASD genes ( ELAVL3 and SMARCA4 ) in one child with an ASD diagnosis and widespread low-density lipoprotein-related lipidome derangements. Lipidomics captures the complexity of neurodevelopment, as well as the biological effects of conditions that commonly affect quality of life among autistic people.
Publisher: Springer Science and Business Media LLC
Date: 02-02-2012
DOI: 10.1007/S10803-012-1456-5
Abstract: There is debate regarding the relationship between autism and specific language impairment (SLI), with some researchers proposing aetiological overlap between the conditions and others maintaining their aetiological distinction. Although considerable research has investigated the language phenotypes of these disorders, the relationship between the cognitive phenotypes has been left relatively unexplored. This paper reviews relevant literature on whether in iduals with SLI exhibit cognitive characteristics reminiscent of autism. Overall, findings are inconsistent and there is a lack of substantive evidence supporting overlapping cognitive phenotypes in autism and SLI. Better powered and more rigorous experimental designs, as well as studies directly comparing the cognitive phenotype of children with SLI and those with autism will further elucidate the aetiological relationship between these two conditions.
Publisher: MDPI AG
Date: 27-05-2019
DOI: 10.3390/NU11051187
Abstract: Emerging evidence suggests that gestational or developmental vitamin D (DVD) deficiency is associated with an increased risk of autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder characterized by impairments in social interaction, lack of verbal and non-verbal communications, stereotyped repetitive behaviors and hyper-activities. There are several other clinical features that are commonly comorbid with ASD, including olfactory impairments, anxiety and delays in motor development. Here we investigate these features in an animal model related to ASD—the DVD-deficient rat. Compared to controls, both DVD-deficient male and female pups show altered ultrasonic vocalizations and stereotyped repetitive behavior. Further, the DVD-deficient animals had delayed motor development and impaired motor control. Adolescent DVD-deficient animals had impaired reciprocal social interaction, while as adults, these animals were hyperactive. The DVD-deficient model is associated with a range of behavioral features of interest to ASD.
Publisher: Elsevier BV
Date: 2020
DOI: 10.2139/SSRN.3565809
Publisher: Springer Science and Business Media LLC
Date: 12-2017
Publisher: Wiley
Date: 05-12-2020
DOI: 10.1111/BJOP.12436
Abstract: Reports linking prenatal testosterone exposure to autistic traits and to a masculinized face structure have motivated research investigating whether autism is associated with facial masculinization. This association has been reported with greater consistency for females than for males, in studies comparing groups with high and low levels of autistic traits. In the present study, we conducted two experiments to examine facial masculinity/femininity in 151 neurotypical adults selected for either low, mid-range, or high levels of autistic traits. In the first experiment, their three-dimensional facial photographs were subjectively rated by 41 raters for masculinity/femininity and were objectively analysed. In the second experiment, we generated 6-face composite images, which were rated by another 36 raters. Across both experiments, findings were consistent for ratings of photographs and composite images. For females, a linear relationship was observed where femininity ratings decreased as a function of higher levels of autistic traits. For males, we found a U-shaped function where males with mid-range levels of traits were rated lowest on masculinity. Objective facial analyses revealed that higher levels of autistic traits were associated with less feminine facial structures in females and less masculine structures in males. These results suggest sex-specific relationships between autistic traits and facial masculinity/femininity.
Publisher: American Medical Association (AMA)
Date: 22-10-2019
Publisher: Public Library of Science (PLoS)
Date: 17-07-2015
Publisher: Springer Science and Business Media LLC
Date: 09-06-2022
DOI: 10.1007/S41252-022-00262-W
Abstract: Developmental theory and previous studies support the potential value of prodromal interventions for infants at elevated likelihood of developing autism. Past research has supported the efficacy of parent-mediated prodromal therapies with infants from as early as 7 months. We outline the rationale for implementing interventions following this model from even earlier in development and report on the feasibility of a novel intervention developed following this model of parent-mediated infant interventions. We report a feasibility study ( n = 13) of a parent-mediated, video-aided intervention, beginning during pregnancy, focussed on parent-infant interactions. The study evaluated the feasibility of this intervention initially with a general population s le. Feasibility was assessed across four domains (acceptability, implementation, practicality and integration) using self-report questionnaire, semi-structured interviews with parents and therapists, attendance and assessment completion. Feasibility assessment shows that the intervention was acceptable, with all participants reporting that they had benefited from the program, with perceived positive benefits to their understanding of and communication with their infant, and that they had integrated program teachings into everyday life. The intervention was implemented as planned with 100% attendance for the core sessions. Changes to minimise the number of antenatal sessions was suggested to improve practicality. This study found initial feasibility for this intervention in a general population s le. This suggests parent-mediated video feedback interventions are a promising format to be implemented within the perinatal developmental time period.
Publisher: Springer Science and Business Media LLC
Date: 16-09-2021
DOI: 10.1186/S11689-021-09389-8
Abstract: Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3–5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family s le. A next essential step is to investigate whether there are measurable characteristics of in idual parents placing them at higher or lower recurrence risk, as this information could allow more personalized genetic counseling. We assembled what is to our knowledge the largest collection of data on the ability of four measurable characteristics of unaffected prospective parents to specify risk for autism among their offspring: (1) sub clinical autistic trait burden, (2) parental history of a sibling with ASD, (3) transmitted autosomal molecular genetic abnormalities, and (4) parental age. Leveraging phenotypic and genetic data in curated family cohorts, we evaluate the respective associations between these factors and child outcome when autism is present in the family in the parental generation. All four characteristics were associated with elevation in offspring risk however, the magnitude of their predictive power—with the exception of isolated rare inherited pathogenic variants —does not yet reach a threshold that would typically be considered actionable for reproductive decision-making. In idual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable more robust prediction either singly or when combined with the risk variables examined in this study.
Publisher: Frontiers Media SA
Date: 2013
Publisher: Informa UK Limited
Date: 13-01-2017
DOI: 10.1080/17549507.2016.1276963
Abstract: Autism spectrum disorder (ASD) is typically diagnosed between 2 and 5 years of age, which is currently thought to be the earliest that the behavioural symptoms are able to be identified without ambiguity. A significant problem with this relatively "late" age of diagnosis is that by the time a child has been identified and diagnosed with ASD, many of the best opportunities for therapies to capitalise upon brain plasticity very early in development are not realised. This paper provides an overview of the benefits and drawbacks of the current clinical pathway that places primacy on a diagnostic assessment for triggering the commencement of therapy. The paper then presents an alternative clinical pathway - the identification and provision of therapy to infants at risk of ASD - and provides a critical review of current evidence supporting this model. The aim of the paper is to outline a vision for the future of early identification and intervention of in iduals with ASD, and the research goals that need to be addressed to achieve this vision.
Publisher: Springer Science and Business Media LLC
Date: 24-12-2011
DOI: 10.1007/S10803-010-1129-1
Abstract: We investigated the relationship between autistic-like traits in early childhood and age at menarche in typically developing girls. Autistic-like symptoms were measured at age 2 years using the Child Behaviour Checklist, and age at menarche (AAM) was determined prospectively using self-report questionnaires at age 8, 10, 14 and 17 years. Girls with 'high' autistic-like symptoms at age 2 years demonstrated significantly later AAM (n = 70 M = 13.07 years SD = 1 year) than girls reported to show 'typical' (n = 216 M = 12.72 years SD = 1.1) or 'low' (n = 47 M = 12.66 years SD = 1.13 years) levels of these behaviors. These data further establish a link between the autism phenotype and later AAM and may provide insights into the etiology of the condition.
Publisher: Informa UK Limited
Date: 06-08-2022
Publisher: SAGE Publications
Date: 17-05-2021
DOI: 10.1177/13623613211015757
Abstract: Recent studies of autism diagnosis in New Zealand have revealed inconsistent implementation of best practice standards in autism assessment and high rates of parental dissatisfaction with the diagnostic process. These findings have arisen despite the development and dissemination of the New Zealand Autism Spectrum Disorder Guideline (the Guideline). In this study, we investigated current diagnostic processes, and adherence to the Guideline in New Zealand, for an opportunity s le of 117 health professionals who practice across a wide range of diagnostic services, health professionals and geographic regions in New Zealand. The results show considerable variability in practice, and suggest specific areas for improvement. These include the robustness of diagnostic evaluations conducted in private settings, the provision of specialist assessment services for youth and adults presenting for autism diagnosis, and the uniformity of post-diagnostic supports and services. These findings have implications for further implementation of the Guideline in New Zealand. Many clinicians in New Zealand do not follow guidelines for best practice in autism diagnosis. In this study, we investigated the processes that health professionals in New Zealand follow when diagnosing autistic children and adults. We asked 117 health professionals from a range of services and regions in New Zealand, how they identify and diagnose autism. We found that there are differences in the way that clinicians in New Zealand diagnose autism. We identified areas in which autism diagnosis in New Zealand could be improved, for ex le, by establishing more services to diagnose autism in adolescents and adults, and providing more consistent support after a person is diagnosed with autism. These findings will help to improve autism diagnosis in New Zealand.
Publisher: Wiley
Date: 04-01-2019
DOI: 10.1002/MGG3.507
Publisher: Wiley
Date: 14-09-2020
DOI: 10.1002/AUR.2381
Publisher: Springer Science and Business Media LLC
Date: 14-06-2016
Publisher: Cold Spring Harbor Laboratory
Date: 29-11-2019
DOI: 10.1101/854927
Abstract: Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for s le overlap. We also meta-analyzed within subsets of the data – i.e. within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGG overall ) was 3.31% (SE=0.0038). We found no genome-wide significant SNPs for AGG overall . The gene-based analysis returned three significant genes: ST3GAL3 ( P =1.6E-06), PCDH7 ( P =2.0E-06) and IPO13 ( P =2.5E-06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout s le of children (variance explained = 0.44%) and in retrospectively assessed childhood aggression (variance explained = 0.20%). Genetic correlations ( r g ) among rater-specific assessment of AGG ranged from r g =0.46 between self- and teacher-assessment to r g =0.81 between mother- and teacher-assessment. We obtained moderate to strong r g ’s with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range | r g | : 0.19 – 1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation ( r g =~ −0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range | r g | : 0.46 – 0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- and self-reported AGG. The current GWAMA of childhood aggression provides a powerful tool to interrogate the rater-specific genetic etiology of AGG.
Publisher: Springer Science and Business Media LLC
Date: 31-03-2021
DOI: 10.1007/S10803-021-04983-0
Abstract: The diagnostic experiences of autistic adults in New Zealand have not been investigated and little is known globally about autistic adults' satisfaction with the autism diagnostic process. This study describes the diagnostic experiences of 70 autistic adults living in New Zealand and explores how these experiences are related to satisfaction during three stages of the diagnostic process. The results show that autistic adults were reasonably satisfied with the early query and diagnostic assessment stages, but were dissatisfied with the post-diagnostic support stage, with significant unmet needs. Dissatisfaction during the post-diagnostic support stage was also related to satisfaction during previous stages and poor coordination of supports. Suggestions are made on how to improve the autism diagnostic pathway for autistic adults in New Zealand.
Publisher: PeerJ
Date: 07-08-2014
DOI: 10.7717/PEERJ.507
Publisher: Wiley
Date: 04-02-2010
DOI: 10.1111/J.1469-8749.2009.03546.X
Abstract: Fetal androgens influence fetal growth as well as postnatal neurocognitive ability. However, to our knowledge, no published study has prospectively examined the impact of early-life androgens on infant brain growth. We report the association between circulating fetal androgen levels, measured from umbilical-cord blood at birth, and a proxy measure of brain growth: head circumference. Participants were 82 unselected female infants from a large representative birth cohort (mean gestational age 39.4 wks, SD 1.7). Umbilical-cord blood was obtained at birth and analysed for androgen concentrations (total testosterone, androstenedione, dehyrdroepiandrosterone, and its sulphated metabolite). Head circumference and two other measures of growth - weight (mean 3311.4 g, SD 461.3) and length - were measured within 3 days of birth and again at approximately 1 year of age (mean age 13.1 mo, SD 1.1). Multivariate linear regressions found an inverse association between levels of free testosterone and growth in head circumference (correlation=-.24), even when adjusting for sociodemographic/obstetric covariates and head size at birth. Growth in weight and length could not be predicted by free testosterone concentration. This is the first report of an association between prenatal androgen levels and postnatal growth in head circumference. These findings suggest that early-life androgens may impact brain development during infancy.
Publisher: Wiley
Date: 19-09-2018
DOI: 10.1002/AUR.1973
Abstract: There is an emerging body of evidence demonstrating that maternal obesity at the time of conception increases the risk for Autism Spectrum Disorders (ASD) among offspring. We explored whether pre-pregnancy weight was related to autistic-like traits among offspring not diagnosed with ASD. A large s le of women, recruited during the second trimester of pregnancy, had their height measured and reported their pre-pregnancy weight. These measurements were then converted to a Body Mass Index (BMI) using the formula: (weight in kilograms)/(height in metres
Publisher: Springer Science and Business Media LLC
Date: 16-10-2012
DOI: 10.1007/S10803-012-1676-8
Abstract: We tested whether maternal vitamin D insufficiency during pregnancy is related to the autism phenotype. Serum 25(OH)-vitamin D concentrations of 929 women were measured at 18 weeks' pregnancy. The mothers of the three children with a clinical diagnosis of autism spectrum disorder had 25(OH)-vitamin D concentrations above the population mean. The offspring of 406 women completed the Autism-Spectrum Quotient in early adulthood. Maternal 25(OH)-vitamin D concentrations were unrelated to offspring scores on the majority of scales. However, offspring of mothers with low 25(OH)-vitamin D concentrations (<49 nmol/L) were at increased risk for 'high' scores (≥2SD above mean) on the Attention Switching subscale (odds ratio: 5.46, 95% confidence interval: 1.29, 23.05). The involvement of maternal vitamin D during pregnancy in autism requires continued investigation.
Publisher: American Medical Association (AMA)
Date: 05-04-2023
DOI: 10.1001/JAMANETWORKOPEN.2023.5847
Abstract: The growing global prevalence of autism spectrum disorder (ASD) is associated with increasing costs for support services. Ascertaining the effects of a successful preemptive intervention for infants showing early behavioral signs of autism on human services budgets is highly policy relevant. To estimate the net cost impact of the iBASIS–Video Interaction to Promote Positive Parenting (iBASIS-VIPP) intervention on the Australian government. Infants (aged 12 months) showing early behavioral indicators of autism were recruited through community settings into the multicenter Australian iBASIS-VIPP randomized clinical trial (RCT), a 5- to 6-month preemptive parent-mediated intervention, between June 9, 2016, and March 30, 2018, and were followed up for 18 months to age 3 years. This economic evaluation, including cost analysis (intervention and cost consequences) and cost-effectiveness analyses of iBASIS-VIPP compared with usual care (treatment as usual [TAU]), modeled outcomes observed at age 3 through to 12 years (13th birthday) and was conducted from April 1, 2021, to January 30, 2023. Data analysis was conducted from July 1, 2021, to January 29, 2023. iBASIS-VIPP intervention. To project the diagnostic trajectory and associated disability support costs drawing on the Australian National Disability Insurance Scheme (NDIS), the main outcome was the differential treatment cost of iBASIS-VIPP plus TAU vs TAU and disability-related government costs modeled to age 12 years, using a clinical diagnosis of ASD and developmental delay (with autism traits) at 3 years. Costs were calculated in Australian dollars and converted to US dollars. Economic performance was measured through the following: (1) differential net present value (NPV) cost (iBASIS-VIPP less TAU), (2) investment return (dollars saved for each dollar invested, taking a third-party payer perspective), (3) break-even age when treatment cost was offset by downstream cost savings, and (4) cost-effectiveness in terms of the differential treatment cost per differential ASD diagnosis at age 3 years. Alternate values of key parameters were modeled in 1-way and probabilistic sensitivity analysis, the latter identifying the likelihood of an NPV cost savings. Of the 103 infants enrolled in the iBASIS-VIPP RCT, 70 (68.0%) were boys. Follow-up data at age 3 years were available for 89 children who received TAU (44 [49.4%]) or iBASIS-VIPP (45 [50.6%]) and were included in this analysis. The estimated mean differential treatment cost was A $5131 (US $3607) per child for iBASIS-VIPP less TAU. The best estimate of NPV cost savings was A $10 695 (US $7519) per child (discounted at 3% per annum). For each dollar invested in treatment, a savings of A $3.08 (US $3.08) was estimated the break-even cost occurred at age 5.3 years (approximately 4 years after intervention delivery). The mean differential treatment cost per lower incident case of ASD was A $37 181 (US $26 138). We estimated that there was an 88.9% chance that iBASIS-VIPP would deliver a cost savings for the NDIS, the dominant third-party payer. The results of this study suggest that iBASIS-VIPP represents a likely good-value societal investment for supporting neuro ergent children. The estimated net cost savings were considered conservative, as they covered only third-party payer costs incurred by the NDIS and outcomes were modeled to just age 12 years. These findings further suggest that preemptive interventions may be a feasible, effective, and efficient new clinical pathway for ASD, reducing disability and the costs of support services. Long-term follow-up of children receiving preemptive intervention is needed to confirm the modeled results.
Publisher: Informa UK Limited
Date: 17-06-2020
DOI: 10.1080/09638288.2020.1773945
Abstract: To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome. Cross-sectional data from a study investigating quality of life of children with intellectual disability were analysed. Participants were caregivers of 89 children with Down syndrome (54 females 83 school attenders) (mean age 11 y 1 mo SD 4 y 1 mo). Components of participation ( Increased caregiver time availability was associated with higher frequency of attendance. Higher frequency of attendance was associated with greater child involvement, and having a sleep breathing disorder and less verbal communication ability was associated with less child involvement. These factors combined explained 21% of the variance. Children with Down syndrome who participated in the community more frequently enjoyed greater involvement. Supporting participation of children with poorer verbal communication and/or sleep breathing disorders could further the participation of children with Down syndrome.Implications for rehabilitationChildren with Down syndrome who more frequently attended opportunities for participation were more likely to be involved in those experiences.Healthcare providers and educators could foster involvement in participation opportunities of children with poorer verbal ability by supporting the development of prerequisite communication strategies.Rehabilitation programs and policies pertaining to accessibility of community activities need to align with modifiable determinants of participation in children, including availability of caregivers' time.
Publisher: Public Library of Science (PLoS)
Date: 22-08-2022
DOI: 10.1371/JOURNAL.PONE.0273116
Abstract: Substantial genetic correlations have been reported across psychiatric disorders and numerous cross-disorder genetic variants have been detected. To identify the genetic variants underlying general psychopathology in childhood, we performed a genome-wide association study using a total psychiatric problem score. We analyzed 6,844,199 common SNPs in 38,418 school-aged children from 20 population-based cohorts participating in the EAGLE consortium. The SNP heritability of total psychiatric problems was 5.4% (SE = 0.01) and two loci reached genome-wide significance: rs10767094 and rs202005905. We also observed an association of SBF2 , a gene associated with neuroticism in previous GWAS, with total psychiatric problems. The genetic effects underlying the total score were shared with common psychiatric disorders only (attention-deficit/hyperactivity disorder, anxiety, depression, insomnia) (rG 0.49), but not with autism or the less common adult disorders (schizophrenia, bipolar disorder, or eating disorders) (rG 0.01). Importantly, the total psychiatric problem score also showed at least a moderate genetic correlation with intelligence, educational attainment, wellbeing, smoking, and body fat (rG 0.29). The results suggest that many common genetic variants are associated with childhood psychiatric symptoms and related phenotypes in general instead of with specific symptoms. Further research is needed to establish causality and pleiotropic mechanisms between related traits.
Publisher: Wiley
Date: 02-06-2023
DOI: 10.1111/SCD.12746
Abstract: Children diagnosed with autism spectrum disorder may be at higher likelihood of experiencing poorer oral health and difficulties accessing dental health care. However, identifying which children on the autism spectrum may be more vulnerable to experiencing dental care difficulties is still unknown. This study investigated parental reports of oral health and dental service needs of children diagnosed with autism and explored relationships with clinical phenotypes. Participants ( n = 140) were parents of children on the autism spectrum who had participated in a large national biobank study, the Australian Autism Biobank, invited to complete additional surveys about oral health, service use, and barriers to care. One third of parents reported their child's oral health was worse than other children the same age, with 26% reporting untreated dental problems. A third of children were reported to have undergone general anaesthesia at least once for dental procedures. Children who had undergone general anaesthesia were more likely to have intellectual disability and greater functional difficulties. Parents of children with greater functional limitations and sensory challenges reported experiencing barriers to accessing dental care more frequently. These results have important implications for paediatric dentists working with children diagnosed with autism with co‐occurring intellectual, functional, and sensory challenges. Findings may inform the development of more personalised autism‐specific supports.
Publisher: Elsevier BV
Date: 10-2016
Publisher: MDPI AG
Date: 20-09-2019
DOI: 10.3390/JCM8101503
Abstract: Research suggests an overrepresentation of autism spectrum diagnoses (ASD) or autistic traits in gender erse s les, particularly in children and adolescents. Using data from the GENTLE (GENder identiTy Longitudinal Experience) Cohort at the Gender Diversity Service at the Perth Children’s Hospital, the primary objective of the current retrospective chart review was to explore psychopathology and quality of life in gender erse children with co-occurring ASD relative to gender erse children and adolescents without ASD. The Social Responsiveness Scale (Second Edition) generates a Diagnostic and Statistical Manual of Mental Disorders (DSM-5) score indicating a likely clinical ASD diagnosis, which was used to partition participants into two groups (indicated ASD, n = 19) (no ASD indicated, n = 60). Indicated ASD was far higher than would be expected compared to general population estimates. Indicated ASD on the Social Responsiveness Scale 2 (SRS 2) was also a significant predictor of Internalising behaviours (Anxious/Depressed, Withdrawn/Depressed, Somatic Complaints, Thought Problems subscales) on the Youth Self Report. Indicated ASD was also a significant predictor of scores on all subscales of the Paediatric Quality of Life Inventory. The current findings indicate that gender erse children and adolescents with indicated ASD comprise an especially vulnerable group that are at marked risk of mental health difficulties, particularly internalising disorders, and poor quality of life outcomes. Services working with gender erse young people should screen for ASD, and also provide pathways to appropriate care for the commonly associated mental health difficulties.
Publisher: Wiley
Date: 08-11-2020
DOI: 10.1111/JCPP.13349
Abstract: Birth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First‐ and later‐born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order. The present study investigated the potential association between birth order and ASD diagnostic phenotypes in a large and representative population s le. Data were obtained from an ongoing prospective diagnostic registry, collected between 1999 and 2017, including children (1–18 years of age, n = 5,404) diagnosed with ASD in the state of Western Australia. Children with ASD were ranked relative to sibling’s birth to establish birth order within families at time of ASD diagnosis. Information reported to the registry by health professionals at the time of diagnostic evaluation included demographic and family characteristics, functional abilities and intellectual capacity. Adaptive functioning and intelligence scores decreased with increasing birth order, with later‐born children more likely to have an intellectual disability. Compared to first‐born children with siblings, first‐born children without siblings at the time of diagnosis also exhibited decreased cognitive functioning. These findings demonstrate for the first time an association between increasing birth order and variability in ASD clinical phenotypes at diagnosis, with potential evidence of reproductive curtailment in children without siblings. Taken together, these findings have significant implications for advancing understanding about the potential mechanisms that contribute to heterogeneity in ASD clinical presentations as a function of birth order and family size.
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Andrew Whitehouse.