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Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Predictors of scoliosis in Rett syndrome

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Shining a light on neurodiversity research

As Neurodiversity Celebration Week draws to a close, we are shining a light on an important study underway at The Kids Research Institute Australia, led by Dr Thom Nevill, a Research Officer within our Human Development and Community Wellbeing and Child Disability teams.

Research enriching the lives of girls with Rett syndrome

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.

Funding to support research into the impact of standing wheelchairs

The Kids researchers are investigating the physical and psychological impacts of powered standing wheelchairs for boys suffering from Duchenne

A process and impact evaluation of use of a Powered Wheelchair Standing Device by boys with Duchenne muscular dystrophy

Graham Jenny Peter Hall Downs Jacoby BAppSci PhD CRFS FANZSRS FThorSoc FERS BApplSci (physio) MSc PhD BA (Hons) MSc Honorary Research Associate Head,

Determinants and Outcomes of Preterm Birth & Pathways into Developmental Disorders

Brad Carrington Fiona Farrant Shepherd Stanley BSc (Hons), PhD PhD FAA FASSA MSc MD FFPHM FAFPHM FRACP FRANZCOG HonDSc HonDUniv HonFRACGP HonMD

Does gastrostomy improve the lives of children with severe disability and their families?

Approximately 13,000 children in Australia live with moderate to severe intellectual disability.