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Rett syndrome diagnostic criteria: Lessons from the Natural History Study
Open accessAbstract
Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant RTT participants met at least 3 of 6 main criteria in the 2002, 2 of 4 main criteria in the current format, and 5 of 11 supportive criteria in both. This analysis underscores the critical role of main criteria for classic RTT; variant RTT requires both main and supportive criteria. Ann Neurol 2010
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“led to a redefinition of the critical periods of deterioration of patients and the emergence of ritualized and stereotypic behaviors 99”
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“The Rett Rare Disease Clinical Research Center natural history study has enrolled more than 800 patients”
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Metadata
- Authors
- Percy, A. K., Neul, J. L., Glaze, D. G., Motil, K. J., Skinner, S. A., Khwaja, O., Lee, H., Lane, J. B., Barrish, J. O., Annese, F., McNair, L., Graham, J., & Barnes, K.
- Affiliations
- Civitan International (US)
- Baylor College of Medicine (US)
- University of Alabama at Birmingham (US)
- Harvard University (US)
- University of South Florida (US)
- Corresponding author
- Percy, Alan K.
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2010-11-22
- Volume
- 68
- Issue
- 6
- Pages
- 951-955
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- PMC
- PMC3021984
- OpenAlex
- W2105926864
- Cited by
- 144
- References
- 16
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 15 · 2023: 10 · 2022: 10 · 2021: 11 · 2020: 13 · 2019: 18 · 2018: 4 · 2017: 10 · 2016: 10 · 2015: 9 · 2014: 4 · 2013: 10 · 2012: 6
- FWCI
- 3.77
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Department of Agriculture
- National Institutes of Health
- National Center for Research Resources (U54RR019478, M01RR000032)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-38985, P30HD038985, U54HD061222)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Rett syndrome, diagnostic criteria, natural history (disease)
- MeSH terms
- Female, Humans, Male, Mutation, Rett Syndrome, Natural History, History, 20th Century, Methyl-CpG-Binding Protein 2
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