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Volume 6 (2006), Pages 1517-1541
Review Article

Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention

Israeli Rett Syndrome Association National Evaluation Team and National Rett Syndrome Clinic Chaim Sheba Medical Center, Ramat-Gan, Israel

Received 7 September 2006; Revised 16 October 2006; Accepted 17 October 2006

Academic Editor: Joav Merrick

Copyright © 2006 Meir Lotan and Bruria Ben-Zeev.


Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. It presents the basic understanding of common characteristics typical of this disorder, and the variants from the classical expression of RS. The present article will review the current literature on RS, specially focusing on the clinical characteristics of the disorder. The intention of the article is to set a clear, up-to-date picture of the individual with RS to prepare the clinician for their future meetings with this population.