Rachel Grove

Examining sub-threshold autistic traits in non-autistic first-degree relatives of individuals on the autism spectrum, known as the Broad Autism Phenotype (BAP), could provide new insights into the associations and familial aggregation of autistic traits. This study was a retrospective cross-sectional study of parents (n = 1008), probands with autism (n = 613), and unaffected siblings (n = 221) of probands with autism. BAP traits were examined by the BAP Questionnaire and Communication Checklist-Adult in parents, Autism Developmental Observation Scale-Second edition in probands, and Social Responsiveness Scale in siblings. Multivariable linear regression analyses were used to investigate the associations of parental BAP traits on autistic traits in probands and unaffected sibling BAP traits. Fathers showed significantly increased aloofness, pragmatic language difficulties, and social engagement problems compared to mothers. Female siblings showed increased difficulties with social cognition compared to male siblings. Adjusted models of the regression analyses showed that all BAP traits in fathers were significantly associated with BAP trait expression in probands with autism. Additionally, all of mother’s BAP traits were significantly associated with unaffected siblings’ BAP trait expression while only fathers’ aloofness and rigidity traits were inversely associated with siblings’ BAP trait expression. Finally, there were significant inverse interactions noted between parent’s BAP traits and their children’s BAP trait expression. This study demonstrated differences in how males and females express BAP traits and also identified differences in parent-child associations by sex, with fathers having a greater effect on their proband children’s expression of BAP traits than mothers.

Autistic girls, women and gender diverse people have specific needs that are underrepresented in research. Research priorities are often established by funding bodies, researchers, parents, carers and health professionals and may not meet the needs of the diverse Autistic community. This co-produced project aimed to identify what research would benefit the lives of Autistic girls, women and gender diverse people in Australia. We interviewed 47 Autistic girls, women and gender diverse people aged seven and above and obtained feedback from an additional 411 Autistic people through an online survey. Autistic young people identified six key research priorities including (1) better understanding and support at school, (2) understanding our experiences, strengths and challenges, (3) autism specific mental health support, (4) Autistic friendships and relationships, (5) experiences of gender diversity and (6) accommodations to make life easier for us. Eight key research priority areas were identified by Autistic adults including (1) understanding and supporting specific needs in adulthood, (2) experiences of trauma, abuse and sexual violence, (3) supporting mental health and wellbeing, (4) addressing barriers in healthcare, (5) understanding and supporting physical health needs, (6) addressing barriers in education and the workplace, (7) understanding the role of society, embracing neurodiversity and the importance of Autistic identity and (8) co-designing research and supports with Autistic people. We provide a discussion around the importance of focusing on these research priority areas in future autism research in Australia.

Background: Autistic women and gender diverse people have specific needs related to their physical and mental health. They also experience more barriers to accessing services. While there are autobiographical accounts of the ‘invisible’ challenges that autistic women and gender diverse people face day-to-day, there has been limited research that explores how these experiences impact health and wellbeing. Objectives: This study aimed to understand the everyday experiences of autistic women and gender diverse people, and their impact on health and wellbeing. Design: Qualitative methods were used to elicit rich information about the unique experiences of autistic women and gender diverse people. Methods: We conducted semi-structured interviews with 31 autistic adults. The data were analysed using reflexive thematic analysis. Results: We identified 3 themes and 10 subthemes. Our first theme described ‘all the stuff that you have to do to get through life’, including managing domestic tasks, parenting, unique health needs and co-occurring physical conditions. The second theme outlined the impact of ‘living in a world that’s not about us’, describing how navigating the neurotypical world, managing gender role expectations and trying to fit impacts on mental health. Our third theme outlined the positive impacts of ‘shedding all the layers and being myself’, including the importance of formal identification, exploring autistic identity and community, and including autistic people in research to support them to ‘have a good life on their own terms’. Conclusion: This study emphasized the importance of shifting the responsibility of health and wellbeing from the individual, and the importance of interpersonal, community, cultural, policy and societal factors in ensuring positive health outcomes for autistic women and gender diverse people. It also highlighted areas that enable autistic women and gender diverse people to flourish, including autistic community connectedness, positive relationships and autistic-affirming support from health professionals.

Camouflaging involves the masking of autistic traits in social situations. While camouflaging may function as a potential barrier to the early diagnosis of autism, minimal research into camouflaging in autistic young people has been conducted. It is also important to evaluate the impact of camouflaging on the mental health of autistic children and adolescents. This study evaluated camouflaging in a sample of 359 female and 374 male autistic children and adolescents (4–17 years, 48.9% females). Findings indicated that camouflaging was a significant predictor of internalizing (i.e., anxiety, depression, somatic complaints) symptoms, when controlling for age, gender, and IQ. We also found evidence for some gender differences in camouflaging. Parents endorsed more autistic traits for females compared with males, whereas there were no differences in autistic traits across sex in the clinician‐administered assessment. There was also evidence for a relationship between age and camouflaging, with adolescents showing a larger discrepancy between parent and clinician reported autistic traits. This has implications for clinical assessment and future research and is important for understanding how best to support the mental health of autistic children and adolescents.

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 individuals to manage sensory modulation symptoms may inform tailored supportive strategies.Lay Summary: 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.

Background: The social domain of autism has been studied in depth, but the relationship between the non-social traits of autism has received less attention. The Diagnostic and Statistical Manual of Mental Disorders (DSM-5) outlines four criteria that make up the non-social domain including repetitive motor movements, insistence on sameness, restricted interests and sensory sensitivity. There is a lack of research into the relationship between these four criteria. This study aimed to evaluate the relationship between the non-social traits of autism in a large sample of autistic adults. It explored whether these traits are best conceptualised as four distinct factors, or exist along a single dimension.Methods: Participants included autistic adults from the Netherlands Autism Register. The four components identified within the DSM-5 non-social domain were measured by items from the Adult Routines Inventory, the Autism Spectrum Quotient short and the Sensory Perception Quotient short. Confirmatory factor analysis, as well as exploratory factor analysis and exploratory structural equation modelling, was implemented to examine the relationship between these four criteria.Results: Results indicated that a four-factor model provided the best fit, mapping onto the DSM-5 criteria. These four factors were moderately correlated, suggesting that four distinct, yet related factors best describe the non-social domain of autism. The one-factor model did not provide a good fit, highlighting that the non-social domain of autism is not a unitary construct.Limitations: The study included autistic adults who were cognitively able to complete the self-report measures. This may limit the generalisability of the findings to those who are less able to do so.Conclusions: This study provided evidence for the multidimensional nature of the non-social domain of autism. Given only two of the four criteria within the non-social domain need to be endorsed for a diagnosis of autism, there is room for substantial variation across individuals, who will have a unique profile within the non-social domain. The results have implications for our understanding of the heterogeneous nature of autistic traits, as well as for how we conceptualise autism as a diagnostic category. This is important for the provision of diagnosis and support within research and clinical practice.

Background: 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. Methods: Genome-wide single-nucleotide polymorphism genotypes were available for 2,477 individuals (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 individuals). 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. Results: 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 individuals 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. Limitations: 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. Conclusions: 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).

The aim of this study was to identify whether parenting style during a child’s toddler years predicts the course of the child’s internalising symptoms throughout early to middle childhood. The current study uses data from waves 1 to 7 (acquired biennially) of the infant cohort (N = 4494) of Growing up in Australia: the Longitudinal Study of Australian Children (LSAC), a population-based longitudinal study. Latent class growth analysis identified four distinct longitudinal trajectories of internalizing symptoms: Low stable (66% of the children), High increasing (7%), Low increasing (17%) and High decreasing (10%). Multinomial logistic regression indicated that low self-efficacy and socioeconomic disadvantage during the toddler years were significant predictors of unfavourable (i.e., increasing) trajectories of internalizing symptoms across later childhood. Parenting hostility was a significant predictor of the low increasing trajectory. Additionally, male children were more likely than females to follow unfavourable trajectories. However, low parenting warmth was not predictive of increasing symptoms across time. Our findings highlight the importance of parenting factors in a child’s early years, particularly the potentially detrimental outcomes associated with parental hostility and low self-efficacy.