Sex Differences in the Broad Autism Phenotype: Insights from the Australian Biobank.

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.

'Nothing About Us, Without Us': Research Priorities for Autistic Girls, Women and Gender Diverse People in Australia.

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.

Perceived misdiagnosis of psychiatric conditions in autistic adults.

Background: Many autistic people, particularly women, do not receive an autism diagnosis until adulthood, delaying their access to timely support and clinical care. One possible explanation is that autistic traits may initially be misinterpreted as symptoms of other psychiatric conditions, leading some individuals to experience misdiagnosis of other psychiatric conditions prior to their autism diagnosis. However, little is currently known about the frequency and nature of psychiatric misdiagnoses in autistic adults.

Predicting Communication Skills Outcomes for Preschool Children with Autism Spectrum Disorder Following Early Intervention.

Purpose: This study aims to assess changes in the receptive and expressive language skills and to determine if the baseline characteristics such as communication, cognitive and motor skills, predict outcomes in preschool children with Autism Spectrum Disorder (ASD) following early intervention.

Methods: We recruited 64 children participating in the Early Start Denver Model (ESDM) early intervention program at an Autism Specific Early Learning and Care Center (ASELCC) in Australia. Baseline characteristics across various developmental domains was measured using the Mullen Scales of Early Learning (MSEL), Vineland Adaptive Behaviour Scales, 2nd Edition (VABS-II), and the ESDM Curriculum Checklist.

'Living in a world that's not about us': The impact of everyday life on the health and wellbeing of autistic women and gender diverse people.

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.

Influencing Best Practices for Genomic and Germline Testing in Urology.

Introduction: We evaluated germline and somatic testing practices and compared results from tissue and liquid biopsy specimens in a large community urology setting.

Methods: A retrospective analysis was performed on advanced prostate cancer patients from a single community practice between June 2016 and September 2021. Clinical data and sequencing results from tissue and liquid biopsy specimens were available for 389 patients.

Interactions between the lipidome and genetic and environmental factors in autism.

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, 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.

The relationship between camouflaging and mental health in autistic children and adolescents.

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.

Patterns of sensory modulation by age and sex in young people on the autism spectrum.

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.

Experiences of Performing Daily Activities in Middle-Aged and Older Autistic Adults: A Qualitative Study.

This is the first study to investigate instrumental activities of daily living in older autistic adults. We conducted interviews with fifteen adults (mean age = 60.1, SD = 7.

Autism-related dietary preferences mediate autism-gut microbiome associations.

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.

Exploring Cultural Differences in Autistic Traits: A Factor Analytic Study of Children with Autism in China and the Netherlands.

Autism spectrum disorders are diagnosed globally, but recognition, interpretation and reporting may vary across cultures. To compare autism across cultures it is important to investigate whether the tools used are conceptually equivalent across cultures. This study evaluated the factor structure of the parent-reported Autism Spectrum Quotient Short Form in autistic children from China (n = 327; 3 to 17 years) and the Netherlands (n = 694; 6 to 16 years).

Clinical outcomes and associated predictors of early intervention in autism spectrum disorder: a study protocol.

Introduction: Research highlights the importance of early intervention for children with autism spectrum disorder with better outcomes associated with earlier access to early intensive intervention (EII) programmes. However, there is significant variability in response to EII despite children receiving the same programmes.

Methods And Analysis: A prospective, multisite cohort study using a pre-post design assesses the predictors of early intervention outcomes for children who receive EII through six early intervention services (Autism Specific Early Learning and Care Centres, ASELCCs) across Australia.

Evaluating the latent structure of the non-social domain of autism in autistic adults.

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.

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.

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.

Early Parenting Characteristics Associated with Internalizing Symptoms Across Seven Waves of the Longitudinal Study of Australian Children.

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%).

The Role of Comorbidity on Retention in HIV Care.

Retention is a central component of the Cascade, facilitating monitoring of comorbidity. Country-specific definitions differ and may suit stable and functioning clients, while not appropriately classifying complex clinical presentations characterized by comorbidity. A retrospective file review of 363 people living with HIV attending a Sydney HIV clinic was conducted.

Short report: Social communication difficulties and restricted repetitive behaviors as predictors of anxiety in adults with autism spectrum disorder.

Autism spectrum disorder and anxiety are highly comorbid conditions. Understanding the underlying traits of anxiety in autism spectrum disorder is crucial to prevent and treat it efficiently. Hence, this study determined whether social communication difficulties or restricted repetitive behaviors are stronger risk factors for anxiety symptoms in autistic adults in a large cohort.

Study protocol for the Australian autism biobank: an international resource to advance autism discovery research.

Background: The phenotypic and genetic heterogeneity of autism spectrum disorder (ASD) presents considerable challenges in understanding etiological pathways, selecting effective therapies, providing genetic counselling, and predicting clinical outcomes. With advances in genetic and biological research alongside rapid-pace technological innovations, there is an increasing imperative to access large, representative, and diverse cohorts to advance knowledge of ASD. To date, there has not been any single collective effort towards a similar resource in Australia, which has its own unique ethnic and cultural diversity.

Special interests and subjective wellbeing in autistic adults.

Unlabelled: Special interests form part of the core features of autism. However, to date there has been limited research focusing on the role of special interests in the lives of autistic adults. This study surveyed autistic adults on their special interest topics, intensity, and motivation.

Transition from early intervention program to primary school in children with autism spectrum disorder.

Aim: To evaluate the characteristics that are associated with successful transition to school outcomes in preschool aged children with autism.

Methods: Twenty-one participants transitioning from an early intervention program were assessed at two time points; at the end of their preschool placement and approximately 5 mo later following their transition to school. Child characteristics were assessed using the Mullen Scales of Early Learning, Vineland Adaptive Behaviour Scales, Social Communication Questionnaire and the Repetitive Behaviour Scale.

Transition to school for children with autism spectrum disorder: A systematic review.

Aim: To identify factors that promote a positive start to school for children with autism spectrum disorder (ASD).

Methods: Web of Science, MEDLINE, Scopus, and PsychINFO searches were conducted to identify literature published after 1991 and relevant to school transition processes in children with ASD. Twenty studies were deemed eligible for inclusion.