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Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
The Australian Rett Syndrome Study is based at The Kids Research Institute Australia located in Subiaco, Western Australia. This study was established in 1993.
Funded by the International Rett Syndrome Foundation, this international online database examines the clinical features and genetic characteristics.
MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.
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.