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Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling

Characterizing the interplay between autism spectrum disorder and comorbid medical conditions: An integrative review

We review medical conditions that have been repeatedly highlighted as sharing the strongest associations with ASD-epilepsy, sleep, as well as gastrointestinal and immune functioning

A national guideline for the assessment and diagnosis of autism spectrum disorders in Australia

The Guideline aims to create greater consistency in diagnostic practices across the country to ensure individuals on the autism spectrum can receive the optimal care

Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder

ASD's are complex, pervasive and heterogeneous neurodevelopmental conditions with varying conditions, trajectories, significant male bias and unknown etiology.

Hypermasculinised facial morphology in boys and girls with Autism Spectrum Disorder and its association with symptomatology

This is the first study demonstrating facial hypermasculinisation in ASD and its relationship to social-communication difficulties in prepubescent children

A "bottom-up" approach to aetiological research in autism spectrum disorders

Autism spectrum disorders (ASD) are currently diagnosed in the presence of impairments in social interaction and communication, and a restricted range of...

Autism spectrum disorder in children born preterm: Role of exposure to perinatal inflammation

This review aims to summarise and evaluate the potential mechanisms and evidence for the role of prenatal infection on the central nervous system, and how it...

Evidence for Distinct Cognitive Profiles in Autism Spectrum Disorders and Specific Language Impairment

This finding supports distinct cognitive profiles in ASD and SLI and may provide further evidence for distinct aetiological mechanisms in the two conditions.

Improving the Quality of Life of mothers of children with autism and intellectual disability

We wanted to explore the quality of life of mothers of children with autism and intellectual disability and identify factors that impact their quality of life.

Autism and intellectual disability are differentially related to sociodemographic background at birth

We used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children...