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Research

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Research

Communication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments. 

The Kids Research Institute Australia disability researcher, Associate Professor Helen Leonard, played an important role in the identification of the differences that define CDD, thanks to her extensive experience researching Rett syndrome and running an Australian online database tracking Rett cases.

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

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

Despite the volume of accumulating knowledge from prospective Aboriginal cohort studies, longitudinal data describing developmental trajectories in health and well-being is limited.

Research

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.

MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.

People

Team Head, Human Development and Community Wellbeing Team

The Indigenous Genomics Group aims to build Indigenous leadership in genomic and data sciences, precision health, and ethics to improve health equity and the wellbeing of Indigenous people, families and communities.