of her family and the local community. Taylor has Rett syndrome and her family have been participating
This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Austra…
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2)…
Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective…
MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of c…
The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported scho…
About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases.
data skills saw me join the Rett Syndrome team at The Kids. Rett Syndrome is a rare neurological ... I ended up spending five years working with the…
view graphs on our website that display the core Rett syndrome features and their relationships with genotype ... difficulties viewing the video, ple…