Rett syndrome diagnostic criteria: lessons from the Natural History Study
Alan K Percy1, Jeffrey L Neul, Daniel G Glaze
1Department of Pediatric (Neurology) and Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL,USA. apercy@uab.edu
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.
Related Concept Videos
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Non-LTR Retrotransposons
Sex Linked Disorders

