Journal
ANNALS OF NEUROLOGY
Volume 68, Issue 6, Pages 951-955Publisher
WILEY-LISS
DOI: 10.1002/ana.22154
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Funding
- NIH
- National Center for Research Resources [RR019478]
- National Institute of Child Health and Human Development [HD061222, HD38985]
- International Rett Syndrome Foundation
- Civitan International Research Center
- US Department of Agriculture, Agricultural Research Service [58-6250-1-003]
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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;68:951-955
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