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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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The Kids researcher among Top 5 Under 40Congratulations to Gail Alvares from our Autism research team who has been named as one the ABC's Top 5 Under 40 scientists in residence.
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New study shows fetal head size could link to autismResearch has found a link between children with larger head measurements in-utero and a subsequent diagnosis of Autism Spectrum Disorder (ASD) as toddlers.
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Better diagnosis leads to higher autism ratesThe rapid increase in the number of children diagnosed with autism spectrum disorders (ASD) in Western Australia reflects changes to diagnostic practices
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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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Asperger'sAsperger's, also known as Asperger syndrome (AS), is a type of autism spectrum disorder that affects social skills, social interaction and nonverbal communication.
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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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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