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Showing results for "rett"
Research
CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
Research
A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
Research
Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Research
Leisure participation for school-aged children with Down syndromeLeisure participation for school-aged children with Down syndrome.
Research
Family Functioning in Families with a Child with Down syndrome: A Mixed Methods ApproachFamily Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...
Research
InterRett, a model for international data collection in a rare genetic disorderThis study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...
Research
International CDKL5 Disorder DatabaseHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08
News & Events
The Silent AngelTaylor is a remarkable young woman with Rett Syndrome who is leading an active country life with the support of her family and the local community.
When you build routines into your day to increase uptime, it doesn’t only affect the person with Rett syndrome; it affects the whole family.