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Discover the stories of children whose lives have been impacted by Telethon Kids Institute research.

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

Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.

Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.

Rett Syndrome Association of Australia and ANZACRett are two family-oriented organisations.

Considering one’s own capacity, activity should be included into everyone’s daily routine to make sure these recommended levels of activity are being as closely met as possible, for everyone to secure the most benefits.