Rett syndrome diagnostic criteria: lessons from the Natural History Study

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

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.

Publication types

  • Historical Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Female
  • History, 20th Century
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation / genetics*
  • Natural History / methods
  • Natural History / standards
  • Rett Syndrome / classification
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / genetics*
  • Rett Syndrome / history

Substances

  • Methyl-CpG-Binding Protein 2