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Research snapshots

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.

Altered attainment of developmental milestones

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

Validating the Rett Syndrome Gross Motor Scale

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

CONNECT

The Kids CONNECT honours the many ways our community supports us to make our research great and achieve our vision of happy healthy kids.

Early determinants of fractures in Rett syndrome

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

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

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