ORCID Profile
0000-0002-9145-6809
Current Organisations
University of Western Australia
,
Telethon Kids Institute
Does something not look right? The information on this page has been harvested from data sources that may not be up to date. We continue to work with information providers to improve coverage and quality. To report an issue, use the Feedback Form.
Publisher: Springer Science and Business Media LLC
Date: 19-06-2018
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: 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: 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: Frontiers Media SA
Date: 22-10-2019
Publisher: Springer Science and Business Media LLC
Date: 09-01-2018
DOI: 10.1038/S41598-017-18418-3
Abstract: Body size is a salient marker of physical health, with extremes implicated in various mental and physical health issues. It is therefore important to understand the mechanisms of perception of body size of self and others. We report a novel technique we term the bodyline , based on the numberline technique in numerosity studies. One hundred and three young women judged the size of sequentially presented female body images by positioning a marker on a line, delineated with images of extreme sizes. Participants performed this task easily and well, with average standard deviations less than 6% of the total scale. Critically, judgments of size were biased towards the previously viewed body, demonstrating that serial dependencies occur in the judgment of body size. The magnitude of serial dependence was well predicted by a simple Kalman-filter ideal-observer model, suggesting that serial dependence occurs in an optimal, adaptive way to improve performance in size judgments.
Publisher: Elsevier BV
Date: 09-2023
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: 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: 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: 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.
No related grants have been discovered for Dominique Cleary.