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Research

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. 

Research

Researchers 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.

Research

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.

Research

Alexithymia—a trait characterized by difficulties in emotion processing—is of high interest in the autism field. However, the lack of validated alexithymia measures for autistic individuals limits progress. This study aimed to address this gap by examining the psychometric properties of the Perth Alexithymia Questionnaire (PAQ) across autistic and non-autistic samples. Using the PAQ, we investigated how alexithymia manifests in autistic individuals and its links with poor mental health outcomes (anxiety).

Research

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

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

Child temperament and caregiver psychological distress have been independently associated with social-emotional difficulties among individuals with autism. However, the interrelationship among these risk factors has rarely been investigated.

Research

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

Individuals with concurrent first episode of psychosis and ASD can present with distinct clinical characteristics that require specialised assessment and treatment

Research

To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL.