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This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measured.
Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.
We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.
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Approaches to study the lifelong trajectories of children with neurodevelopmental conditionsWe argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...
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Parental perspectives on the communication abilities of their daughters with Rett syndromeThis study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...
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The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome populationThis study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...
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Bone mineral content and density in Rett syndrome and their contributing factorsThis study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...
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Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
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Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndromeIn girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,...
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Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorderOur findings suggest that some opportunities do exist for clinicians to help optimise parental well-being