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Research

Hip displacement and scoliosis in Rett syndrome - screening is required

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

Research

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

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

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Parental experiences of scoliosis management in Rett syndrome

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

Research

Rare childhood diseases: how should we respond?

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

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Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

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...

Research

The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

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The diagnosis of autism in a female: could it be Rett syndrome?

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

Research

Early determinants of fractures in Rett syndrome

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,...

Research

Sleep problems in Rett syndrome

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

Research

Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).