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Research

Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives

Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

Research

Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disorders

Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.

Nourish resources good for the body and the soul

For thousands of children around Australia with intellectual and other disabilities, the process of eating can be traumatic, posing challenges that veer from uncomfortable to life threatening.

Research

Participation predictors for leisure-time physical activity intervention in children with cerebral palsy

To determine the predictors of magnitude of change in response to a participation-focused leisure-time physical activity intervention in children with cerebral palsy (CP) using the ParticiPAte CP protocol.

Research

Fine-grained Fidgety Movement Classification using Active Learning

Typically developing infants, between the corrected age of 9-20 weeks, produce fidgety movements. These movements can be identified with the General Movement Assessment, but their identification requires trained professionals to conduct the assessment from video recordings.

News & Events

Pioneering new treatments for leukaemia in children with Down syndrome

A team of world-leading scientists has secured $5 million in funding from the Leukaemia and Lymphoma Society to advance the fight against leukaemia in children with Down syndrome.

Research

Parental Experiences of Having a Child Diagnosed With Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.

Research

Can Respiratory Hospital Admissions in Children with Cerebral Palsy Be Reduced? A Feasibility Randomized Controlled Trial (RESP-ACT)

To investigate the feasibility of implementing recommendations of the consensus statement for the Prevention and Management of Respiratory Disease in children with severe cerebral palsy (CP) via RESPiratory hospital Admissions in children with cerebral palsy: a feasibility randomized Controlled Trial (RESP-ACT).

Research

Co-design of the neurodevelopment assessment scale

Neurodevelopmental disorders (NDDs) have high comorbidity rates and shared etiology. Nevertheless, NDD assessment is diagnosis-driven and focuses on symptom profiles of individual disorders, which hinders diagnosis and treatment. There is also no evidence-based, standardized transdiagnostic approach currently available to provide a full clinical picture of individuals with NDDs. The pressing need for transdiagnostic assessment led to the development of the Neurodevelopment Assessment Scale.

Research

Discovery of 42 genome-wide significant loci associated with dyslexia

Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found.