Rett syndrome diagnostic criteria: lessons from the Natural History Study
AK Percy, JL Neul, DG Glaze, KJ Motil… - Annals of …, 2010 - Wiley Online Library
Annals of neurology, 2010•Wiley Online Library
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 …
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 …
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
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