ORCID Profile
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Publisher: Elsevier BV
Date: 02-2015
DOI: 10.1016/J.PSYCHRES.2014.09.010
Abstract: Research demonstrates that people living with serious mental illness (SMI) contend with widespread public stigma however, little is known about the specific experiences of stigma that mothers, and in particular fathers, with SMI encounter as parents. This study aimed to explore and compare the experiences of stigma for mothers and fathers with SMI inferred not only by living with a mental illness but also potential compounding gender effects, and the associated impact of stigma on parenting. Telephone surveys were conducted with 93 participants with SMI who previously identified as parents in the Second Australian National Survey of Psychosis. Results indicated that mothers were more likely than fathers to perceive and internalise stigma associated with their mental illness. Conversely, fathers were more inclined to perceive stigma relating to their gender and to hold stigmatising attitudes towards others. Mental illness and gender stigma predicted poorer self-reported parenting experiences for both mothers and fathers. These findings may assist in tailoring interventions for mothers and fathers with SMI.
Publisher: Springer Science and Business Media LLC
Date: 09-11-2020
Publisher: Wiley
Date: 10-2007
DOI: 10.1111/J.1460-9568.2007.05858.X
Abstract: Feedforward inhibition deficits have been consistently demonstrated in a range of neuropsychiatric conditions using prepulse inhibition (PPI) of the acoustic startle eye-blink reflex when assessing sensorimotor gating. While PPI can be recorded in acutely decerebrated rats, behavioural, pharmacological and psychophysiological studies suggest the involvement of a complex neural network extending from brainstem nuclei to higher order cortical areas. The current functional magnetic resonance imaging study investigated the neural network underlying PPI and its association with electromyographically (EMG) recorded PPI of the acoustic startle eye-blink reflex in 16 healthy volunteers. A sparse imaging design was employed to model signal changes in blood oxygenation level-dependent (BOLD) responses to acoustic startle probes that were preceded by a prepulse at 120 ms or 480 ms stimulus onset asynchrony or without prepulse. Sensorimotor gating was EMG confirmed for the 120-ms prepulse condition, while startle responses in the 480-ms prepulse condition did not differ from startle alone. Multiple regression analysis of BOLD contrasts identified activation in pons, thalamus, caudate nuclei, left angular gyrus and bilaterally in anterior cingulate, associated with EMG-recorded sensorimotor gating. Planned contrasts confirmed increased pons activation for startle alone vs 120-ms prepulse condition, while increased anterior superior frontal gyrus activation was confirmed for the reverse contrast. Our findings are consistent with a primary pontine circuitry of sensorimotor gating that interconnects with inferior parietal, superior temporal, frontal and prefrontal cortices via thalamus and striatum. PPI processes in the prefrontal, frontal and superior temporal cortex were functionally distinct from sensorimotor gating.
Publisher: SAGE Publications
Date: 25-07-2012
Abstract: Being a parent is an important part of one’s identity and role. Previous research outlines many challenges associated with parenting by people with severe mental illness. However, there is a limited research describing parenting experiences of mothers and fathers who have psychosis. The second Australian national survey of psychosis recruited 1825 people living with symptoms of, or a diagnosis of, psychosis. The survey was conducted through face-to-face interviews and included key clinical and demographic information, as well as parenting specific information. Over half of all women and a quarter of men were parents. Almost a quarter of women but only 5.5% of the men had dependent children (own and/or stepchildren) living at home with them. Of parents with dependent children, the most common diagnosis was schizophrenia (48.2% fathers, 28.9% mothers), and there were high rates of comorbidity with substance abuse/dependence (alcohol: fathers 69.2%, mothers 44.3% cannabis: fathers 69.22%, mothers 47.8%). A substantial proportion of parents with dependent children experienced challenges including low educational attainment, unemployment, poverty, and social isolation. Although many parents living with dependent children functioned in the average range, a significant proportion was moderately to severely disabled on global independent functioning ratings (fathers 49.1%, mothers 35.7%) and some were identified as having obvious/severe impairments in their ability to care for their child(ren) (fathers 28.3%, mothers 21.3%). Most parents living with psychosis function well. However, a significant proportion has impairments in parenting and general functioning that could have adverse consequences for both the parent and children. This study brings into focus the need for interventions to optimise successful parenting outcomes.
Publisher: Elsevier BV
Date: 05-2010
DOI: 10.1016/J.PSYCHRES.2009.06.007
Abstract: Previous research demonstrates that people with 22q11.2 deletion syndrome (22q11DS) have social and interpersonal skill deficits. However, the basis of this deficit is unknown. This study examined, for the first time, how people with 22q11DS process emotional face stimuli using visual scanpath technology. The visual scanpaths of 17 adolescents and age/gender matched healthy controls were recorded while they viewed face images depicting one of seven basic emotions (happy, sad, surprised, angry, fear, disgust and neutral). Recognition accuracy was measured concurrently. People with 22q11DS differed significantly from controls, displaying visual scanpath patterns that were characterised by fewer fixations and a shorter scanpath length. The 22q11DS group also spent significantly more time gazing at the mouth region and significantly less time looking at eye regions of the faces. Recognition accuracy was correspondingly impaired, with 22q11DS subjects displaying particular deficits for fear and disgust. These findings suggest that 22q11DS is associated with a maladaptive visual information processing strategy that may underlie affect recognition accuracy and social functioning deficits in this group.
Publisher: Wiley
Date: 25-02-2015
DOI: 10.1111/JIR.12183
Abstract: Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship between social functioning and more basic processes of social cognition and executive functioning are not well understood in 22q11DS. The present study examined the relationship between social-cognitive measures of emotion attribution and theory of mind with executive functioning and their contribution to social competence in 22q11DS. The present cross-sectional study measured social cognition and executive performance of 24 adolescents with 22q11DS compared with 27 age-matched typically developing controls. Social cognition was tested using the emotion attribution task (EAT) and a picture sequencing task (PST), which tested mentalising (false-belief), sequencing, cause and effect, and inhibition. Executive functioning was assessed using computerised versions of the Tower of London task and working memory measures of spatial and non-spatial ability. Social competence was also assessed using the parent-reported Strengths and Difficulties Questionnaire. Adolescents with 22q11DS showed impaired false-belief, emotion attribution and executive functioning compared with typically developing control participants. Poorer performance was reported on all story types in the PST, although, patterns of errors and response times across story types were similar in both groups. General sequencing ability was the strongest predictor of false-belief, and performance on the false-belief task predicted emotion attribution accuracy. Intellectual functioning, rather than theory of mind or executive functioning, predicted social competence in 22q11DS. Performance on social-cognitive tasks of theory of mind indicate evidence of a general underlying dysfunction in 22q11DS that includes executive ability to understand cause and effect, to logically reason about social scenarios and also to inhibit responses to salient, but misleading cues. However, general intellectual ability is closely related to actual social competence suggesting that a generalised intellectual deficit coupled with more specific executive impairments may best explain poor social cognition in 22q11DS.
Publisher: Wiley
Date: 27-09-2021
DOI: 10.1111/AJO.13436
Abstract: In Australia, using non‐invasive prenatal testing (NIPT) to screen for fetal abnormalities is becoming more commonplace. However, there is a lack of standardised procedures surrounding pre‐test counselling. This holds the potential for variability in pregnant people’s experiences when undergoing NIPT, which subsequently may impact their ability to make informed decisions surrounding NIPT results. This study sought to characterise the experiences of Australian women undergoing NIPT, including perceptions of informed choice, counselling experiences and decision to undergo NIPT. Australian women who had been recently pregnant ( n = 94) completed an online survey which assessed: their knowledge of and attitude toward NIPT satisfaction with counselling satisfaction with their decision and decisional conflict to undergo NIPT. The survey also allowed participants to provide qualitative information about their counselling experience and reasons for undergoing NIPT. Overall, participants had good knowledge of and positive attitudes toward NIPT, experienced low decisional conflict and were overall satisfied with their counselling experience and decision to undergo NIPT. However, some participants expressed dissatisfaction with the lack of information provided, and biased language, by counselling providers. The desire to be informed was the most frequent reason for undergoing NIPT. The provision of accurate and objective information in pre‐test counselling is important to reduce decisional conflict and improve satisfaction with the decision to undergo NIPT. It is recommended counselling providers present pregnant people with neutral, objective, and accurate information at the time of pre‐test counselling.
Publisher: Informa UK Limited
Date: 26-02-2019
DOI: 10.1080/02770903.2018.1437174
Abstract: Maternal asthma during pregnancy is associated with a higher risk of negative perinatal outcomes. However, little is known about the direct effects of maternal asthma on infant cognitive development. We examined the evidence for an impact of maternal asthma during pregnancy on cognitive and behavioral development of the child. We conducted a MEDLINE, PsychINFO, and manual search of the databases for all available studies until January 9th, 2018. Studies were deemed relevant if they included child cognitive and behavioral development as the outcome, with maternal asthma as the determinant of interest. Ten articles matched selection criteria. Some studies report that maternal asthma is associated with increased risk for autism and intellectual disability in children. However, these effects are small and are often eliminated when controlling for confounding variables. Other studies have found no association. The only prospective study found that well-managed asthma during pregnancy was not associated with negative developmental outcomes in children. The evidence suggests that the relationship between maternal asthma during pregnancy and poor developmental and behavioral outcomes of children is weak. Children of mothers with well-managed asthma during pregnancy have similar developmental trajectories to those born to healthy mothers. Prospective, longitudinal studies are needed to confirm these conclusions. Optimal asthma management is important in pregnancy as it may have longer term benefits for the health of the offspring. As the rate of asthma increases in the population, the implications of maternal asthma on child development will be of greater importance.
Publisher: Elsevier BV
Date: 09-2011
DOI: 10.1016/J.PSYCHRES.2011.06.012
Abstract: People with 22q11.2 deletion syndrome (22q11DS) have deficits in face emotion recognition. However, it is not known whether this is a deficit specific to faces, or represents maladaptive information processing strategies to complex stimuli in general. This study examined the specificity of face emotion processing deficits in 22q11DS by exploring recognition accuracy and visual scanpath performance to a Faces task compared to a Weather Scene task. Seventeen adolescents with 22q11DS (11=females, age=17.4) and 18 healthy controls (11=females, age=17.7) participated in the study. People with 22q11DS displayed an overall impoverished scanning strategy to face and weather stimuli alike, resulting in poorer accuracy across all stimuli for the 22q11DS participants compared to controls. While the control subjects altered their information processing in response to faces, a similar change was not present in the 22q11DS group indicating different visual scanpath strategies to identify category within each of the tasks, of which faces appear to represent a particularly difficult subcategory. To conclude, while this study indicates that people with 22q11DS have a general visual processing deficit, the lack of strategic change between tasks suggest that the 22q11DS group did not adapt to the change in stimuli content as well as the controls, indicative of cognitive inflexibility rather than a face specific deficit.
Publisher: Elsevier BV
Date: 09-2020
Publisher: Informa UK Limited
Date: 11-06-2021
DOI: 10.1080/00221325.2021.1930995
Abstract: 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental disorder caused by a microdeletion on the long arm of chromosome 22. Sleep problems have been reported in this population, and psychiatric disorders and affect dysregulation are common to the behavioral phenotype of 22q11DS. Sleep and affect have been consistently linked across multiple studies, yet despite this very little research has investigated sleep problems in 22q11DS, or the link between sleep and affect in this population. The Experience S ling Method was used to track daily reports of sleep quality and affect in a total of 29 in iduals with 22q11DS and 21 control subjects. Measurements were recorded during a 6-day period using an electronic device that prompted daily response with audio cues. Participants with 22q11DS were found to experience a longer sleep onset latency and a greater amount, and duration, of night wakings compared with control subjects. Despite this, no significant between-group difference was found for subjective sleep quality. 22q11DS participants reported more experiences of negative affect and less positive affect than control subjects. A bidirectional relationship was found between sleep measures and affect. Sleep problems can cause a wide range of negative health effects, and in iduals with 22q11DS are particularly vulnerable to deficits of sleep. To ensure high standards of care, healthcare providers should be aware of the possibility and impact of sleep problems in this population.
Publisher: Informa UK Limited
Date: 14-11-2022
DOI: 10.1080/02770903.2021.1993246
Abstract: Maternal asthma often complicates pregnancy and is linked with poorer quality of life. Additionally, in iduals with asthma are at an increased risk of depression and anxiety. We examined whether asthma during pregnancy is related to parenting stress in the first year postpartum and if this relationship varies with level of asthma control. This cohort survey-based study included mothers with ( n = 157) and without ( n = 79) asthma. Mothers with asthma participated in this study following participation in a randomized controlled trial of a novel asthma management strategy during pregnancy. Mothers completed the Parenting Stress Index - Short Form during the first 12 months postpartum. Mothers with asthma also completed the Asthma Control Questionnaire. Parenting stress did not differ between mothers with and without asthma. Additionally, for mothers with asthma, there were no differences in levels of parenting stress based on asthma control. This study suggests that mothers with asthma are not at an increased risk for excessive parenting stress. However, due to response and s ling bias, levels of parenting stress in asthmatic mothers may be underreported in our s le.
Publisher: American Medical Association (AMA)
Date: 04-2015
Publisher: Springer Science and Business Media LLC
Date: 06-01-2013
DOI: 10.1007/S10803-012-1742-2
Abstract: In iduals with developmental disorders frequently report a range of social cognition deficits including difficulties identifying facial displays of emotion. This study examined the specificity of face emotion processing deficits in adolescents with either autism or 22q11DS compared to typically developing (TD) controls. Two tasks (face emotion recognition and weather scene recognition) were used to explore group differences in visual scanpath strategy and concurrent recognition accuracy. For faces, the autism and 22q11DS groups demonstrated lower emotion recognition accuracy and fewer fixations compared to the TD group. In iduals with autism demonstrated fewer fixations to some weather scene stimuli compared to 22q11DS and TD groups, yet achieved a level of recognition accuracy comparable to the TD group. These findings provide evidence for a ergent pattern of social cognition dysfunction in autism and 22q11DS.
Publisher: Wiley
Date: 09-12-2013
DOI: 10.1002/IMHJ.21426
Abstract: Mothers with borderline personality disorder (BPD) have disturbed relationships with their infants, possibly associated with poor nonverbal cue perception. In iduals with BPD are poor at recognizing emotion in adults and tend to misattribute neutral (i.e., no emotion) as sad. This study extends previous research by examining how mothers with BPD perceive known (own) and unknown (control) infant stimuli depicting happy, sad, and neutral emotions. The s le consisted of 13 women diagnosed with BPD and 13 healthy control mothers. All participants completed clinical and parenting questionnaires and an infant emotion recognition task. Compared to control mothers, mothers with BPD were significantly poorer at infant emotion recognition overall, but especially neutral expressions which were misattributed most often as sad. Performance was not related to disturbed parenting but rather mothers' age and illness duration. Neither the BPD nor control mothers showed enhanced accuracy for emotional displays of their own verses unknown infant-face images. Although the s le size was small, this study provides evidence that mothers with BPD negatively misinterpret neutral images, which may impact sensitive responding to infant emotional cues. These findings have implications for clinical practice and the development of remediation programs targeting emotion-perception disturbances in mothers with BPD.
Publisher: Wiley
Date: 21-09-2020
DOI: 10.1111/CCH.12806
Publisher: Elsevier BV
Date: 08-2011
Publisher: American Psychiatric Association Publishing
Date: 06-2014
Publisher: Wiley
Date: 23-02-2018
DOI: 10.1111/JIR.12478
Abstract: The transition to adulthood is a major developmental milestone a time of self-discovery and increased independence. For young adults (YA) with intellectual disabilities (ID), however, this period is especially challenging. The increased incidence of mental health disorders in this population, such as depression and anxiety, make this transition even more difficult, increasing caregiver burden at a time when the young adult would traditionally be gaining independence. It is not clear, however, why YA with ID are more susceptible and what factors may predict mental health symptoms. Potential risk and protective factors (demographic variables, coping styles, sense of hopelessness, unmet achievement of adulthood milestones, self-reflection and insight) of anxiety and depression symptoms were assessed in 55 YA with ID and a s le of age-matched controls. Insight was the strongest predictor of anxiety (with gender in the controls) for YA with and without ID, with increased insight predicting fewer anxiety symptoms. However, YA with ID had significantly less insight than their aged-matched counterparts and significantly higher levels of anxiety. They were also less likely to have achieved traditional adulthood milestones. Maladaptive coping was the strongest predictor of depression for YA with ID. In comparison, both maladaptive coping and insight predicted depression in controls. More maladaptive coping predicted increased depressive symptoms in both populations, whilst increased insight predicted fewer depressive symptoms in controls. Insight and maladaptive coping are potential targets in the treatment of anxiety and depression among YA with ID. Longitudinal intervention studies exploring the efficacy of such targeted programmes in reducing mental health symptoms and improving the transition to adulthood for these young people are recommended.
Publisher: Springer Science and Business Media LLC
Date: 27-03-2021
Publisher: Wiley
Date: 25-07-2015
DOI: 10.1111/JIR.12151
Publisher: Informa UK Limited
Date: 06-10-2017
Publisher: Elsevier BV
Date: 03-2009
DOI: 10.1016/J.BRAINRES.2008.11.101
Abstract: We investigated structural brain morphology of intellectually disabled children with Williams (WS) syndrome and its relationship to the behavioural phenotype. We compared the neuroanatomy of 15 children (mean age:13+/-2) with WS and 15 age/gender-matched healthy children using a manual region-of-interest analysis to measure bulk (white+grey) tissue volumes and unbiased fully-automated voxel-based morphometry to assess differences in grey/white matter throughout the brain. Ratings of abnormal behaviours were correlated with brain structure. Compared to controls, the brains of children with WS had a decreased volume of the right parieto-occipital regions and basal ganglia. We identified reductions of grey matter of the parieto-occipital regions, left putamen/globus pallidus and thalamus and in white matter of the basal ganglia and right posterior cingulate gyrus. In contrast, significant increases of grey matter were identified in the frontal lobes, anterior cingulate gyrus, left temporal lobe, and of white matter bilaterally in the anterior cingulate. Inattention in WS was correlated with volumetric differences in the frontal lobes, caudate nucleus and cerebellum, and hyperactivity was related to differences in the left temporal and parietal lobes and cerebellum. Finally, ratings of peer problems were related to differences in the temporal lobes, right basal ganglia and frontal lobe. In one of the first studies of brain structure in intellectually disabled children with WS using voxel-based morphometry, our findings suggest that this group has specific differences in grey/white matter morphology. In addition, it was found that structural differences were correlated to ratings of inattention, hyperactivity and peer problems in children with WS.
Publisher: Wiley
Date: 08-06-2023
DOI: 10.1111/JIR.13046
Abstract: In iduals with intellectual disability (ID) are at higher risk of experiencing difficulties with anxiety than the general population. However, there are major barriers for in iduals to receive appropriate services. There is a growing understanding of the importance of developing appropriate psychological interventions for this group. The objective of the current review was to systematically evaluate the findings of studies investigating the effectiveness of cognitive behavioural therapy (CBT) for in iduals with ID and anxiety. Another aim was to explore which adaptions to CBT and treatment components were currently being utilised within the field. The electronic databases of CINAHL, EMBASE, Medline, PsycINFO, Psychology and Behavioural Sciences Collection and Scopus were searched to identify relevant studies. The methodological quality of these studies was assessed using established quality assessment tools by the National Institutes of Health for pre and post studies and case series. Nine studies were included in this systematic review, all of which reported improvements in anxiety severity for some participants (25%–100% N = 60) following CBT. Only three studies reported moderate effect sizes for CBT interventions on anxiety for in iduals with ID. There is emerging literature supporting the effectiveness of CBT for in iduals with mild ID. Findings highlight that CBT for in iduals with anxiety and mild ID, including cognitive components, may be feasible and tolerable. While the field is gradually receiving more attention, there are significant methodological flaws present, which limit the conclusions that can be drawn regarding the effectiveness of CBT for in iduals with ID. However, there is emerging evidence for techniques such as cognitive restructuring and thought replacement and modifications such as visual aids, modelling and smaller groups based on this review. Future research is warranted to investigate whether in iduals with more severe ID can benefit from CBT, as well as further exploring what are the necessary components and modifications.
Publisher: Wiley
Date: 17-08-2017
DOI: 10.1111/JIR.12397
Abstract: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. However, there is little research examining the effect of this multisystem disorder on the family, particularly siblings. The current study was a phenomenological exploration of sense-making in siblings of a person with 22q11.2DS. Interpretative phenomenological analysis informed a detailed and open examination of being a sibling of a person with 22q11.2DS. Using in-depth semistructured interviews, five typically developing siblings (two men, three women) of people with 22q11.2DS were in idually interviewed, providing the data set for transcription and thematic analysis. The theme 'They are the priority' overarched two subordinate themes that emerged from participants' descriptions of the struggle with acceptance and finding positive meaning. Participants oscillated between conflicting feelings about their sibling with 22q11.2DS always taking centre stage. For ex le, they felt anger, guilt and resentment yet, they also embraced patience, empathy and gratitude. This phenomenological study provides a foundation for future research relating to 22q11.2DS and fostering family wellbeing, particularly around acceptance and psychological growth. The siblings in this study actively withdrew from their family to allow prioritisation of their affected sibling. However, this does not mean that their needs should be overlooked. There are easily accessible resources to support siblings of in iduals with disabilities, and it is important for health professionals and parents to consider these options.
Publisher: Elsevier BV
Date: 03-2009
DOI: 10.1016/J.NEUROPSYCHOLOGIA.2008.10.029
Abstract: 22q11.2 deletion syndrome (22q11DS) is associated with intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies comparing cognition and neuroanatomical characteristics of 22q11DS with other syndromes to investigate if the cognitive strengths and difficulties and neuroanatomical differences associated with 22q11DS are specific to the syndrome. Hence, it is difficult to know if the observed features of 22q11DS are simply due to a non-specific effect of having a genetic disorder or are specific to 22q11DS. In this study, cognition and brain anatomy of 12 children with 22q11DS were compared to 12 age, gender and full scale IQ (FSIQ) matched children with William syndrome (WS) in order to investigate which cognitive and neuroanatomical features are specific to 22q11DS. We chose WS since the literature suggests that both groups have areas of physical/cognitive/behavioural overlap but as yet there has been no direct comparison of the two groups. Despite being matched on FSIQ the WS group had significantly greater impairment than those with 22q11DS on tests of Performance IQ, while performing significantly better on tasks measuring verbal, social and facial processing skills. Moreover there were significant differences in brain anatomy. Despite similar overall brain volumes, midline anomalies were more common among the 22q11DS group, and regional differences such as increased striatal volumes and reduced cerebellar volumes in the 22q11DS group were detected. These findings suggest that although the behavioural phenotype is similar in some aspects there are key differences in cognition and neuroanatomy between the two groups. Different neuropsychological profiles need to be considered when designing educational frameworks for working with these children.
Publisher: SAGE Publications
Date: 29-05-2012
Abstract: Social inclusion is a key priority of the Fourth National Mental Health Plan for Australia (2009–2014), with strong evidence for its protective impact on mental health. Social integration has been associated with enhanced well-being for people with mental illnesses such as psychosis. To explore the impact of psychosis on an in idual’s social and community participation. The second Australian national survey of psychosis was conducted across seven Australian sites. Semi-structured interviews with adults living with psychosis assessed mental health status, social and role functioning, life satisfaction and future goals. The cohort comprised 1825 adults with a psychotic illness (59.6% were male 42.4% were aged 18–34 years 31.5% had 12 years or more of education) of whom 32.7% had been employed in the past year. Most adults indicated experiencing loneliness (80.1%) and a need for more friends (48.1%). Men were more likely to have never had a long-term relationship (59.4% M, 33.2% F). Even though women were more likely to experience anxiety in social situations [(χ 2 (1) = 8.95, p 0.01)], they were more likely to have attended a social activity in the past year [χ 2 (2) = 11.84, p 0.01]. Just over half of the survey participants (56.7%) reported having daily or nearly daily contact with family members. In the past year, 69% had not attended any social activity and 43% described stigma as a barrier. Although 63.2% showed significant impairment in social functioning, only 29.5% had received help for this in the last year. Social isolation and loneliness were rated as major challenges by 37.2% of the cohort. Social isolation and dysfunction experienced by people with psychosis have not decreased since the last Australian national survey of people with psychosis. Alongside education and employment, social functioning and participation must be addressed to improve social inclusion for people with psychosis. Programs targeting social opportunities (befriending, peer support), social anxiety and social functioning for all stages of psychosis are warranted.
Publisher: Wiley
Date: 09-01-2020
DOI: 10.1111/JAR.12700
Abstract: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome. Parents of emerging adults with 22q11DS have an intense and ongoing involvement in their child's life. This study explores the lived experience of parents in relation to their child becoming independent and establishing intimate relationships. Interpretative phenomenological analysis was used to explore the positive and negative experiences of five parents of emerging adults with 22q11DS. Supervised independence overarched four subordinate themes. These themes highlighted the difficulties experienced by parents attempting to relinquish control whilst still experiencing a need to keep their child safe as their child negotiated a complex stage of life. Parents waited for "signs" from their child before initiating conversations about intimate relationships. These findings provide insight into the lived experience of parenting a child through the transition into adulthood, providing a catalyst for further research with the aim of facilitating better services for families.
Publisher: Oxford University Press (OUP)
Date: 28-03-2006
DOI: 10.1093/BRAIN/AWL066
Abstract: In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of developing attention-deficit/hyperactivity disorder and autism spectrum disorders in childhood, and schizophrenia in adolescence or adult life. However, the neurobiology of 22qDS, and the relationship between abnormalities in brain anatomy and behaviour, is poorly understood. Thus, we studied the neuroanatomy of 22qDS children using fully automated voxel-based morphometry (VBM) and manually traced single region-of-interest (ROI) analysis. Also, we investigated whether those brain regions that differed significantly between groups were related to behavioural differences within children with 22qDS. We compared the brain morphometry of 39 children and adolescents with 22qDS (mean age: 11 years, SD +/-3, IQ = 67, SD +/-10) and 26 sibling controls (mean age: 11 years, SD +/-3, IQ = 102, SD +/-12). Using VBM, we found, after correction for IQ, that in iduals with 22qDS compared with controls had a significant reduction in cerebellar grey matter, and white matter reductions in the frontal lobe, cerebellum and internal capsule. Using single ROI analysis, we found that people with 22qDS had a significant (P < 0.05) reduction in bulk volume bilaterally in the occipital-parietal lobes, but a larger right caudate nucleus and lateral ventricles. Further, within people with 22qDS, there was a significant positive correlation between severity of (i) schizotypy score and grey matter volume of the temporo-occipital regions and the corpus striatum (ii) emotional problems and grey matter volume of frontostriatal regions and (iii) social behavioural difficulties and grey matter in frontostriatal regions. Thus, subjects with 22qDS have widespread changes in brain anatomy, particularly affecting white matter, basal ganglia and cerebellum. Also, within 22qDS, regionally specific differences in brain development may partially underpin behavioural differences. We suggest that there is preliminary evidence for specific vulnerability of the frontostriatal and cerebellar-cortical networks in 22qDS.
Publisher: Elsevier BV
Date: 12-2005
DOI: 10.1086/498396
Publisher: Wiley
Date: 05-2004
DOI: 10.1002/AJMG.A.20665
Abstract: Dense surface models can be used to analyze 3D facial morphology by establishing a correspondence of thousands of points across each 3D face image. The models provide dramatic visualizations of 3D face-shape variation with potential for training physicians to recognize the key components of particular syndromes. We demonstrate their use to visualize and recognize shape differences in a collection of 3D face images that includes 280 controls (2 weeks to 56 years of age), 90 in iduals with Noonan syndrome (NS) (7 months to 56 years), and 60 in iduals with velo-cardio-facial syndrome (VCFS 3 to 17 years of age). Ten-fold cross-validation testing of discrimination between the three groups was carried out on unseen test ex les using five pattern recognition algorithms (nearest mean, C5.0 decision trees, neural networks, logistic regression, and support vector machines). For discriminating between in iduals with NS and controls, the best average sensitivity and specificity levels were 92 and 93% for children, 83 and 94% for adults, and 88 and 94% for the children and adults combined. For in iduals with VCFS and controls, the best results were 83 and 92%. In a comparison of in iduals with NS and in iduals with VCFS, a correct identification rate of 95% was achieved for both syndromes. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at pages/0148-7299/suppmat/index.html.
Publisher: Springer Science and Business Media LLC
Date: 08-10-2021
Publisher: Springer Science and Business Media LLC
Date: 03-2009
DOI: 10.1007/S11689-009-9008-9
Abstract: 22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with a microdeletion of chromosome 22q11. In addition to high rates of neuropsychiatric disorders such as schizophrenia and attention deficit hyperactivity disorder, children with 22q11DS have a specific neuropsychological profile with particular deficits in visuospatial and working memory. However, the neurobiological substrate underlying these deficits is poorly understood. We investigated brain function during a visuospatial working memory (SWM) task in eight children with 22q11DS and 13 healthy controls, using fMRI. Both groups showed task-related activation in dorsolateral prefrontal cortex (DLPFC) and bilateral parietal association cortices. Controls activated parietal and occipital regions significantly more than those with 22q11DS but there was no significant between-group difference in DLPFC. In addition, while controls had a significant age-related increase in the activation of posterior brain regions and an age-related decrease in anterior regions, the 22q11DS children showed the opposite pattern. Genetically determined differences in the development of specific brain systems may underpin the cognitive deficits in 22q11DS, and may contribute to the later development of neuropsychiatric disorders.
Publisher: Springer Science and Business Media LLC
Date: 12-07-2022
DOI: 10.1007/S10803-021-05172-9
Abstract: Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the heterogeneity of behavioural characteristics in a group of 129 young people (aged 4-22) with a confirmed 22q11.2 microdeletion and 116 age and gender matched typically developing controls. Half the participants with 22q11DS had behaviour characterised by emotion dysregulation. A cluster analyses, of the participants with 22q11DS, revealed four groups characterised by intact emotion regulation predominantly internalizing problems both internalizing and externalizing problems and predominantly externalizing difficulties. Importantly, it was found that young people with 22q11DS whose emotion dysregulation was characterised by externalizing problems had the poorest levels of functioning. As our understanding of 22q11DS improves, it is becoming increasingly clear that we need a better understanding of how in idual differences and psychosocial factors contribute to, and interact with one another, to result in the observable in idual differences in the 22q11DS behavioural phenotype.
Publisher: Cambridge University Press
Date: 30-06-2005
Publisher: Informa UK Limited
Date: 02-06-2021
Publisher: Springer Science and Business Media LLC
Date: 05-03-2010
DOI: 10.1007/S11689-010-9043-6
Abstract: Young people with 22q11 Deletion Syndrome (22q11DS) are at substantial risk for developing psychosis and have significant differences in white matter (WM) volume. However, there are few in vivo studies of both WM microstructural integrity (as measured using Diffusion Tensor (DT)-MRI) and WM volume in the same in idual. We used DT-MRI and structural MRI (sMRI) with voxel based morphometry (VBM) to compare, respectively, the fractional anisotropy (FA) and WM volume of 11 children and adolescents with 22q11DS and 12 controls. Also, within 22q11DS we related differences in WM to severity of schizotypy, and polymorphism of the catechol-O-methyltransferase (COMT) gene. People with 22q11DS had significantly lower FA in inter-hemispheric and brainstem and frontal, parietal and temporal lobe regions after covarying for IQ. Significant WM volumetric increases were found in the internal capsule, anterior brainstem and frontal and occipital lobes. There was a significant negative correlation between increased schizotypy scores and reduced WM FA in the right posterior limb of internal capsule and the right body and left splenium of corpus callosum. Finally, the Val allele of COMT was associated with a significant reduction in both FA and volume of WM in the frontal lobes, cingulum and corpus callosum. Young people with 22q11DS have significant differences in both WM microstructure and volume. Also, there is preliminary evidence that within 22q11DS, some regional differences in FA are associated with allelic variation in COMT and may perhaps also be associated with schizotypy.
Publisher: Informa UK Limited
Date: 31-05-2020
Publisher: Wiley
Date: 25-05-2016
DOI: 10.1002/EJP.895
Abstract: There is evidence that sensitivity to noxious stimuli differs between the sexes and across the body, but few studies have investigated differences in the perception and experience of acute pain stimuli across the body in healthy in iduals. We recruited 52 healthy participants, aged 18-36 (50% men) and administered 39, 42 and 45 °C stimuli at four body sites bilaterally to examine differences in the experience of pain intensity and unpleasantness between body sites via an 11-point numerical rating scale. Noxious and innocuous thermal heat stimuli were perceived as significantly more intense when delivered to the wrist (M = 3.98, SD = 1.93) and back (M = 4.07, SD = 1.98) compared to the shoulder (M = 3.45, SD = 1.91) and leg (M = 3.46, SD = 1.87). Pain unpleasantness ratings yielded similar findings stimuli were perceived as more unpleasant when administered to the wrist (M = 2.83, SD = 1.93) and lower back (M = 3.04, SD = 2.11) compared to the shoulder (M = 2.63, SD = 1.85) and leg (M = 2.26, SD = 1.82). These findings suggest that painful thermal stimuli delivered to the wrist and back are perceived as more intense and unpleasant compared with other body sites in healthy persons. These differences may be due to variations in receptor density, or the relative importance of these sites for daily living and survival. Moreover, these insights are helpful for the design of studies investigating pain experience in healthy persons in experimental or clinical settings. WHAT DOES THIS STUDY ADD?: We tested sensitivity to acute suprathreshold thermal stimulations across a range of body sites to investigate for potential variability. We found significant differences in the perceived intensity and unpleasantness of noxious and innocuous thermal stimuli at the wrist and lower back, compared with the shoulder and leg. These results suggest that pain experience is driven by receptor density or the relative functional importance of these sites.
Publisher: Springer Science and Business Media LLC
Date: 16-09-2023
Publisher: Elsevier BV
Date: 2013
DOI: 10.1016/J.RIDD.2012.07.025
Abstract: 22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among adults with 22q11DS (~25-30% vs. ~1% in the general population). The purpose of this study was to investigate whether subtypes exist among people with 22q11DS, with a similar phenotype and an increased risk of developing mental health problems. Physical, cognitive and behavioural data from 50 children and adolescents with 22q11DS were included in a k-means cluster analysis. Two distinct phenotypes were identified: Type-1 presented with a more severe phenotype including significantly impaired verbal memory, lower intellectual and academic ability, as well as statistically significant reduced total brain volume. In addition, we identified a trend effect for reduced temporal grey matter. Type-1 also presented with autism-spectrum traits, whereas Type-2 could be described as having more 22q11DS-typical face morphology, being predominately affected by executive function deficits, but otherwise being relatively high functioning with regard to cognition and behaviour. The confirmation of well-defined subtypes in 22q11DS can lead to better prognostic information enabling early identification of people with 22q11DS at high risk of psychiatric disorders. The identification of subtypes in a group of people with a relatively homogenous genetic deletion such as 22q11DS is also valuable to understand clinical outcomes.
Publisher: Springer Science and Business Media LLC
Date: 05-05-2011
DOI: 10.1007/S11689-011-9082-7
Abstract: Social dysfunction is intrinsically involved in severe psychiatric disorders such as depression and psychosis and linked with poor theory of mind. Children with 22q11.2 deletion syndrome (22q11DS, or velo-cardio-facial syndrome) have poor social competence and are also at a particularly high risk of developing mood (40%) and psychotic (up to 30%) disorders in adolescence and young adulthood. However, it is unknown if these problems are associated with theory of mind skills, including underlying social-cognitive and social-perceptual mechanisms. The present cross-sectional study included classic social-cognitive false-belief and mentalising tasks and social-perceptual face processing tasks. The performance of 50 children with 22q11DS was compared with 31 age-matched typically developing sibling controls. Key findings indicated that, while younger children with 22q11DS showed impaired acquisition of social-cognitive skills, older children with 22q11DS were not significantly impaired compared with sibling controls. However, children with 22q11DS were found to have social-perceptual deficits, as demonstrated by difficulties in matching faces on the basis of identity, emotion, facial speech and gaze compared with sibling controls. Furthermore, performance on the tasks was associated with age, language ability and parentally rated social competence and emotional problems. These results are discussed in relation to the importance of a better delineation of social competence in this population.
Publisher: SAGE Publications
Date: 04-2010
DOI: 10.3109/00048670903489882
Abstract: Objective: Velo-cardio-facial syndrome or 22q11.2 deletion syndrome (22q11DS) is the most common known microdeletion syndrome. One of the genes in the deleted region is the catechol-O-methyltransferase (COMT) gene, which is thought to have significant effects on cognition through its influence on dopamine metabolism. The aim of the present study was to better characterize the cognitive phenotype in a large cohort children with 22q11DS compared with sibling controls and to investigate if the cognitive deficits in 22q11DS were modulated by COMT expression. Method: The memory, executive function and attentional abilities of children with 22q11DS (n = 50) compared to sibling controls (n = 31), were measured. Also, within children with 22q11DS, a preliminary exploration was carried out of the relationship between cognitive ability and COMT genotype. Results: Overall, the 22q11DS group had significantly reduced scores on tests of memory (especially in visual memory) and executive function (particularly in planning, working memory, and motor organization) compared with sibling controls. No association, however, was identified between COMT genotype and cognitive function. Conclusions: Although 22q11DS children have specific cognitive deficits, differences in COMT do not account for these findings.
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Linda Elisabet Campbell.