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The first six months of life: A systematic review of early markers associated with later autismThere is now good evidence that behavioural signs of autism spectrum conditions (autism) emerge over the first two years of life. Identifying clear developmental differences early in life may facilitate earlier identification and intervention that can promote longer-term quality of life. Here we present a systematic review of studies investigating behavioural markers of later autism diagnosis or symptomology taken at 0-6 months.
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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.
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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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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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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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Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traitsAutism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population.
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Validation of a novel theory of mind measurement tool: The social robot video taskSocial communication difficulties in autism spectrum disorder have been associated with poor Theory of Mind (ToM), an ability to attribute mental states to others. Interventions using humanoid robots could improve ToM that may generalize to human-human interactions. Traditionally, ToM has been measured using the Firth-Happe Animations (FHA) task which depicts interactions between two animated triangles.
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Analysis of common genetic variation and rare CNVs in the Australian Autism BiobankAutism 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.