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Rett syndrome: revised diagnostic criteria and nomenclature.

ABSTRACT: 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.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 simplified clinical diagnostic criteria for RTT.The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed.These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.

SUBMITTER: Neul JL

PROVIDER: S-EPMC3058521 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature

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Rett syndrome: revised diagnostic criteria and nomenclature.

Neul Jeffrey L JL Kaufmann Walter E WE Glaze Daniel G DG Christodoulou John J Clarke Angus J AJ Bahi-Buisson Nadia N Leonard Helen H Bailey Mark E S ME Schanen N Carolyn NC Zappella Michele M Renieri Alessandra A Huppke Peter P Percy Alan K AK

Annals of neurology 20101201 6

<h4>Objective</h4>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 ...[more]

PMID: 21154482

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Rett syndrome: revised diagnostic criteria and nomenclature.

Publications

Rett syndrome: revised diagnostic criteria and nomenclature.

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