ArticleResearch in autism spectrum disorders2011
The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population.
Article in Research in autism spectrum disorders, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.Molecular neurobiology · 2024Article
- Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data.Journal of comparative effectiveness research · 2024Article
- The collective burden of childhood dementia: a scoping review.Brain : a journal of neurology · 2023Article
- Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study.BMC neurology · 2023Article
- Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model.Genes, brain, and behavior · 2022Article
- Health economic evaluation of gene replacement therapies: methodological issues and recommendations.Journal of market access & health policy · 2020Article
- Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder.European child & adolescent psychiatry · 2019Article
- Clinical and biological progress over 50 years in Rett syndrome.Nature reviews. Neurology · 2017Review
- Twenty years of surveillance in Rett syndrome: what does this tell us?Orphanet journal of rare diseases · 2014Article
- Article
- The phenotype associated with a large deletion on MECP2.European journal of human genetics : EJHG · 2012Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over six years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use (general practitioner and specialist visits and hospital stays) were summarized into composite scores with Principal Component Analysis. Linear and mixed regression models examined effects of mutation type and other variables on these scores over time. For some mutations (such as p.R255X, p.R168X) health status was poorer at a younger age and improved over time, while for p.R133C it was better at a younger age and deteriorated with time. For those with p.R133C health service use was lowest at a younger age and highest at 25 years. With other mutations, such as p.R255X, p.R270X, p.R294X, C terminal and p.R306C, health service use was higher at a younger age, but dropped off considerably by 25 years of age. Health service use generally declined in parallel with deterioration in health status, although this pattern differed by mutation type, demonstrating important variability in the course of Rett syndrome.
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Registered trials
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