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Reliability, Validity and Acceptability of the PEDI-CAT with ASD Scales for Australian Children and Youth on the Autism Spectrum

The PEDI-CAT (ASD) is used to assess functioning of children and youth on the autism spectrum; however, current psychometric evidence is limited. This study aimed to explore the reliability, validity and acceptability of the PEDI-CAT (ASD) using a large Australian sample. 

Investigating Parental Observations of Early Autism Development in Simplex and Multiplex Families

Past research has highlighted the importance of early identification of developmental differences to improve targeted access to early interventions or supports. As such, it is of particular importance in the context of children at elevated likelihood of autism (such as where an older sibling has a diagnosis of autism), to better understand when and which early concerns are important as predictors of which children will benefit from pre-diagnostic supports.

Community Priorities for Outcomes Targeted During Professional Supports for Autistic Children and their Families

Professional supports play an important role in aiding autistic children's learning, participation, and overall wellbeing. Yet, limited research exists on stakeholders' perspectives and preferences regarding targeted outcomes for children undergoing support facilitated by professionals.

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. 

Investigating the impact of autistic children's feeding difficulties on caregivers

The aim of this study was to investigate the influence of children's autism characteristics, sensory profiles and feeding difficulties on caregiver-reported impact at mealtimes.

Parsing the heterogeneity of social motivation in autism

Social motivation is posited as a key factor in the expression of the autism phenotype. However, lack of precision in both conceptualization and measurement has impeded a thorough understanding of its diverse presentation and associated outcomes. This study addresses this gap by identifying subgroups of autism characterized by deficits in distinct facets of social motivation, relative to normative benchmarks.

Shaping the future of autism care: the need for a precision medicine approach

Andrew Videos Whitehouse Watch and listen to Andrew PhD Deputy Director (Research); Angela Wright Bennett Professor of Autism Research at The Kids

Use of Neuroimaging to Predict Adverse Developmental Outcomes in High-Risk Infants

With advances in perinatal care, we have achieved major reductions in mortality in premature and critically ill infants, but they still remain at increased risk of neurodevelopmental disability. In this context, recent advances in neuroimaging are perceived as an addition of significant value to current clinical developmental screening programs.

“It Was Such a Different Experience”: a Qualitative Study of Parental Perinatal Experiences When Having a Subsequent Child After Having a Child Diagnosed with Autism

Children who have an older sibling diagnosed with autism have an increased likelihood of being diagnosed with autism or developing broader developmental difficulties. This study explored perinatal experiences of parents of a child diagnosed with autism, spanning pre-conception until the subsequent child’s early developmental period.

Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

Reading Disability is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies.