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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.

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Prevalence and outcomes of young people with concurrent autism spectrum disorder and first episode of psychosis

Individuals 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 study

To 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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Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex

Infants 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 Study

The 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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Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank

Autism 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.

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Parental experiences using the Therapy Outcomes by You (TOBY) application to deliver early intervention to their child with autism

Parental 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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The first six months of life: A systematic review of early markers associated with later autism

There 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.

News & Events

Better diagnosis leads to higher autism rates

The rapid increase in the number of children diagnosed with autism spectrum disorders (ASD) in Western Australia reflects changes to diagnostic practices

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.