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Critical mass in rare diseases - an innovative internet approach

The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.

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Research

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.

Research

Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

Prevalence and determinants of sleep problems in Rett syndrome

Research

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

We aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics.

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication

Research

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.

Research

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...

Research

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