Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.
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.
雷特综合征（RTT）是一种严重的神经发育疾病，影响大约每 10000 名活产女婴中的 1 名，通常由甲基化CpG 结合蛋白 2（MECP2）突变引起。尽管具有明显的临床特征，但近年来临床和分子信息的积累对 RTT 的诊断产生了相当大的混淆。这项工作的目的是修订和澄清 2002 年 RTT 诊断共识标准，以期待治疗试验。
RettSearch 成员代表了大多数国际临床 RTT 专家，他们参与了一个迭代过程，就修订和简化的 RTT 临床诊断标准达成共识。
澄清和简化了经典和非典型 RTT 的诊断所需的临床标准。制定了特定变异型 RTT 的诊断和分子评估指南。
这些修订后的标准明确了 RTT 诊断所需的关键特征，并强调了 RTT 是一种基于明确临床标准的临床诊断，与分子发现无关。我们建议在任何拟议的临床研究中使用这些标准和指南。
