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Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence

A clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome

Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion.

A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome

The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...

Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

Community participation: Conversations with parent-Carers of young women with Rett syndrome

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...

Family satisfaction following spinal fusion in Rett syndrome

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study

Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life.

Perspectives on hand function in girls and women with Rett syndrome

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.