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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.

New insight into Rett syndrome severity

A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

New guidelines a model for better management of rare conditions

New guidelines a model for better management of rare conditions

Rett syndrome research reveals high fracture risk

Girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.

New study reveals Rett syndrome can strike males

A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder.

Professor Jenny Downs

Head, Child Disability

Dr Emma Glasson

Senior Research Fellow

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database

Trends in the diagnosis of Rett syndrome in Australia

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...