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Research
Parental perspectives on the communication abilities of their daughters with Rett syndromeHow females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
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Level of purposeful hand function as a marker of clinical severity in Rett syndromeWe investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
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Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome DatabaseRett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal
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Valproate and risk of fracture in Rett syndromeThis study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
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Early determinants of fractures in Rett syndromeThe goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
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Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
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Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersRett syndrome is a pervasive neurological disorder with impaired gait as one criterion.
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A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndromeThe aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...
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Community participation for girls and women living with Rett syndromeParticipation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastrostomy.