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Updating the profile of C-terminal MECP2 deletions

Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.

Linking MECP2 and pain sensitivity

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.

Survival with Rett syndrome

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

Stereotypical hand movements

We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.

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Thinking big to tackle kids’ brain development

If there’s one thing modern researchers and health professionals now understand, it’s that for so many diseases and conditions affecting children and adolescents, early intervention is crucial.

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Video: One brave little girl's battle with Rett syndrome

Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.

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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.

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New guidelines a model for better management of rare conditions

New guidelines a model for better management of rare conditions

The Sibling Snapshot Project

Be involved in the Sibling Snapshot Project! Researchers from The Kids Research Institute Australia are conducting research which explores the unique