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Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life.

To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

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.

We also wanted to find out whether any particular behaviours were associated with any specific mutation types.

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

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.

Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.

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

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