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Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.

We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.

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A program developed by The Kids Research Institute Australia researcher Dr Jenny Downs has led to dramatic improvements in the functioning of Chinese children with Rett syndrome, and could change the world.

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Principal Research Fellow

We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.

Research

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

Research

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.

Research

Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of treatments. Mutations in the MECP2 gene were identified as causing Rett syndrome in 1999. Over the past 20 years there has been an abundance of preclinical research with some studies leading to human clinical trials.

Research

Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.