Article
Rett syndrome diagnostic criteria: lessons from the Natural History Study.
Annals of neurology - 1 Dec 2010
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 excerpt
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...
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