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Initial assessment of the StepWatch Activity Monitorâ„¢ to measure walking activity in Rett syndromeIn girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitorâ„¢ and investigated relationships between daily step counts,...
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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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Research enriching the lives of girls with Rett syndromeA program developed by The Kids Research Institute Australia researcher Dr Jenny Downs has led to dramatic improvements in the functioning of Chinese children with Rett syndrome, and could change the world.
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Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assaultTo investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children;
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Unpacking the complex nature of the autism epidemicThis paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social influences.
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The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
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Siblings of children with disabilities: challenges and opportunitiesSiblings of children with disabilities: challenges and opportunities
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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...