New guidelines a model for better management of rare conditions
To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.
Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management…
Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.
A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Austra…
The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate.…
This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.