ARS | Publication request: Rett syndrome diagnostic criteria: Lessons from the Natural History Study

Submitted to: Annals of Neurology
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: July 8, 2010
Publication Date: July 8, 2010
Citation: Percy, A., Neul, J., Glaze, D., Motil, K., Skinner, S., Khwaja, O., Lee, H., Lane, J., Barrish, J., Annese, F., Mcnair, L., Graham, J. 2010. Rett syndrome diagnostic criteria: Lessons from the Natural History Study. Annals of Neurology. 68(6)951-955.

Interpretive Summary: The Rare Disease Consortium Research Network for Rett Syndrome (RTT) is an NIH-funded project to characterize the clinical spectrum and natural history of RTT in advance of clinical trials. Evaluations include clinical status (classic vs. atypical RTT), MECP2 mutations, and clinical severity. Seven hundred sixty five females fulfilled 2002 consensus criteria for classic (85.4%) or variant (14.6%) RTT. These findings are important because they validate recently revised diagnostic criteria.

Technical Abstract: Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study, validates recently revised diagnostic criteria. Seven hundred sixty-five 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.