Search

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...

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.

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.