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Ann Neurol. 2010 Dec;68(6):951-5. doi: 10.1002/ana.22154.

Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Author information

  • 1Department of Pediatric (Neurology) and Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL,USA. apercy@uab.edu

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.

PMID:
21104896
[PubMed - indexed for MEDLINE]
PMCID:
PMC3021984
Free PMC Article
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