Rett syndrome diagnostic criteria: Lessons from the Natural History Study

Academic Article


  • 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. Copyright © 2010 American Neurological Association.
  • Authors

    Published In

    Digital Object Identifier (doi)

    Author List

  • Percy AK; Neul JL; Glaze DG; Motil KJ; Skinner SA; Khwaja O; Lee HS; Lane JB; Barrish JO; Annese F
  • Start Page

  • 951
  • End Page

  • 955
  • Volume

  • 68
  • Issue

  • 6