Rett syndrome: revised diagnostic criteria and nomenclature.

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 simplified clinical diagnostic criteria for RTT.

Results

The clinical criteria required

SUBMITTER: Neul JL 

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

REPOSITORIES: biostudies-literature