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.
This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Austra…
Siblings of children with disabilities: challenges and opportunities
Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health servi…
Physical and mental health in mothers of children with Down syndrome.
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.