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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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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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Community perspectives on the appropriateness and importance of support goals for young autistic childrenResearchers do not know much about what autistic adults, parents and professionals think about support goals for young autistic children. People's views of support goals might also be influenced by their beliefs about early support more generally. This survey involved 87 autistic adults, 159 parents of autistic children and 80 clinical professionals living in New Zealand and Australia.
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Caregiver broader autism phenotype does not moderate the effect of early caregiver-mediated support on infant language outcomesCaregiver-mediated supports in general have shown mixed evidence for enhancing language outcomes in infants at higher likelihood of autism. While caregivers play a substantial role in caregiver-mediated supports, little is known about whether caregivers' own subclinical autistic features - known as broader autism phenotype - may moderate infant language outcomes.
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The Kids researchers named as finalists in 2023 Premier’s Science AwardsFive The Kids Research Institute Australia researchers working across diverse and highly impactful areas of child health research have been named as finalists for the 2023 Premier’s Science Awards.
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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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Australian Clinicians’ Considerations When Choosing an Assessment of Functioning Tool for Children with Neurodevelopmental ConditionsIn the Australian disability context, the assessment of children with neurodevelopmental conditions’ functioning (across all domains) is of increasing importance, particularly since the introduction of the National Disability Insurance Scheme. Currently, there is wide variability across assessment of functioning practices, including the choice and use of published tools for assessment.
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Is the broad autism phenotype in mothers of children with autism spectrum disorder exacerbated by the challenges of caring for their children?This qualitative study of parental interviews provided a preliminary examination of whether behaviours consistent with the BAP may have been exacerbated by...
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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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Brief Report: Further Evidence for a Link Between Inner Speech Limitations and Executive Function in High-Functioning Children with AutismThis study investigated the involvement of inner speech limitations in the executive dysfunction associated with autism spectrum disorders (ASDs).