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We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastrostomy.
We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy.
We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of symptoms.
We investigated what parents thought about the ways to manage scoliosis and what they thought they needed to help them better manage their daughter's scoliosis.
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Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndromeThis study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...
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Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndromeWe aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteristitics.
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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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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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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,...