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

Rett syndrome diagnostic criteria: lessons from the Natural History Study

Alan K Percy  1 , Jeffrey L Neul, Daniel G Glaze, Kathleen J Motil, Steven A Skinner, Omar Khwaja, Hye-Seung Lee, Jane B Lane, Judy O Barrish, Fran Annese, Lauren McNair, Joy Graham, Katherine Barnes
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Rett syndrome diagnostic criteria: lessons from the Natural History Study

Alan K Percy et al. Ann Neurol. 2010 Dec.

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.

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