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- Title
Rett syndrome diagnostic criteria: Lessons from the Natural History Study.
- Authors
Percy, Alan K.; Neul, Jeffrey L.; Glaze, Daniel G.; Motil, Kathleen J.; Skinner, Steven A.; Khwaja, Omar; Lee, Hye-Seung; Lane, Jane B.; Barrish, Judy O; Annese, Fran; McNair, Lauren; Graham, Joy; Barnes, Katherine
- 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. Ann Neurol 2010
- Publication
Annals of Neurology, 2010, Vol 68, Issue 6, p951
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.22154