Pediatrician Alert: When Developmental Milestones are Misssed. Rett Syndrome Needs Your Attention, by Alan Percy, MD (AL UCEDD/LEND/DDRC)

September 10, 2007

International Rett Syndrome Association, Clinical Science Document

Alan K. Percy, MD, Departments of Pediatrics, Neurology, Neurobiology, and Genetics
University of Alabama at Birmingham: UCEDD, LEND, DDRC

Abstract

Rett syndrome is a relatively rare neurodevelopmental disorder that achieved prominence in the early 1980s. Identified predominantly in females, Rett syndrome occurs equally in all ethnic groups with a prevalence of 1 in 10 to 20,000 females. Identification of mutations in the gene, MECP2 (methyl-CpG-binding protein 2), in 1999 confirmed its genetic basis. More than 95% of females who fulfill consensus criteria for Rett syndrome have a MECP2 mutation. Yet, Rett syndrome is generally sporadic with a recurrence risk well below 0.5%. Despite significant clinical and neurobiologic advances in recent years, physicians, related health care professionals, and educators remain relatively uninformed about Rett syndrome. This commentary is designed to alert the medical community about the critical need for timely diagnosis and relevant intervention strategies for this unique disorder.

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