Rett syndrome diagnostic criteria: lessons from the Natural History Study.
cross_sectional · Level IV
Where this comes from
- Record sourced from PubMed, PMID 21104896.
- Also identified by DOI 10.1002/ana.22154 and PMC identifier 3021984.
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Abstract
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.
Medical subject headings
- Methyl-CpG-Binding Protein 2
- Mutation
- Rett Syndrome