Journal article
Rett syndrome: Revised diagnostic criteria and nomenclature
JL Neul, WE Kaufmann, DG Glaze, J Christodoulou, AJ Clarke, N Bahi-Buisson, H Leonard, MES Bailey, NC Schanen, M Zappella, A Renieri, P Huppke, AK Percy
Annals of Neurology | WILEY | Published : 2010
DOI: 10.1002/ana.22124
Abstract
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. Method RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplifi..
View full abstractGrants
Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development
Funding Acknowledgements
We thank the International Rett Syndrome Foundation (IRSF) for its continuous support of the RettSearch consortium (www.rettsearch.org). The establishment of RettSearch was also supported by NIH grant R13 HD 48152.