title: Rett syndrome diagnostic criteria: lessons from the Natural History Study.
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.
authors.affiliation: Department of Pediatric (Neurology) and Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL,USA. apercy@uab.edu
authors.forename: Alan K
authors.initials: AK
authors.lastname: Percy
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Neul
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Glaze
authors.forename: Kathleen J
authors.initials: KJ
authors.lastname: Motil
authors.forename: Steven A
authors.initials: SA
authors.lastname: Skinner
authors.forename: Omar
authors.initials: O
authors.lastname: Khwaja
authors.forename: Hye-Seung
authors.initials: HS
authors.lastname: Lee
authors.forename: Jane B
authors.initials: JB
authors.lastname: Lane
authors.forename: Judy O
authors.initials: JO
authors.lastname: Barrish
authors.forename: Fran
authors.initials: F
authors.lastname: Annese
authors.forename: Lauren
authors.initials: L
authors.lastname: McNair
authors.forename: Joy
authors.initials: J
authors.lastname: Graham
authors.forename: Katherine
authors.initials: K
authors.lastname: Barnes
mesh_terms: D005260:Female; D049673:History, 20th Century; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D019021:Natural History / Q000379:methods / Q000592:standards; D015518:Rett Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics* / Q000266:history
chemical_list: D051783:Methyl-CpG-Binding Protein 2