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The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.

The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.

The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).