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Experiences Impacting the Quality of Life of Mothers of Children With Autism and Intellectual DisabilityMothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
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MACROD2 gene associated with autistic-like traits in a general population sampleThe MACROD2 gene is a strong positional candidate risk factor for autistic-like traits in the general population
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Perceived gender ratings for high and low scorers on the autism-spectrum quotient consistent with the extreme male brain account of autismThis study tested the 'Extreme Male Brain' theory & androgyny accounts of Autism spectrum disorder.
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Multigenerational Familial and Environmental Risk for Autism (MINERvA) NetworkThe MINERvA Network will allow more accurate and precise determination of the contributions of familial and environmental factors to the etiology of autism.
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Parental experiences using the Therapy Outcomes by You (TOBY) application to deliver early intervention to their child with autismParental experience of TOBY was positive when use of the application aligned with parental proficiency, opportunities for use, and importantly, the needs of the child
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Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complexInfants with Tuberous sclerosis complex demonstrated reduced interhemispheric alpha phase coherence compared to controls at 12 months of age
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Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based StudyThe present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk
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Prevalence and outcomes of young people with concurrent autism spectrum disorder and first episode of psychosisIndividuals with concurrent first episode of psychosis and ASD can present with distinct clinical characteristics that require specialised assessment and treatment
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Functioning, participation, and quality of life in children with intellectual disability: an observational studyTo investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL.
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.