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Research

Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach

The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways.

Research

Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorder

This study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones.

News & Events

The Kids Research Institute Australia’s CliniKids wins national disability award

CliniKids has won the Excellence in Allied Health category at the inaugural National Disability Awards, announced in Melbourne tonight.

News & Events

The Kids researchers named as finalists in 2023 Premier’s Science Awards

Five 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.

News & Events

Autism Researcher a Finalist for Western Australian of the Year

Professor Andrew Whitehouse has been named a finalist in the 2023 Western Australian of the Year Awards for his work in transforming clinical support for autistic children in Australia.

Research

Caregiver broader autism phenotype does not moderate the effect of early caregiver-mediated support on infant language outcomes

Caregiver-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. 

Research

Australian Clinicians’ Considerations When Choosing an Assessment of Functioning Tool for Children with Neurodevelopmental Conditions

In 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.

Research

Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits

Autism 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.

Research

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An 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.