Science & technology

Identification of Rett syndrome

1966

Rett syndrome is a rare neurodevelopmental disorder that mainly affects girls. It was first described in 1966 by the Austrian pediatrician Andreas Rett, who noticed a group of girls with similar symptoms and repetitive hand movements. His report was published in German and drew little attention until 1983, when Bengt Hagberg and colleagues described more cases in English and named the condition after him. Affected children usually develop normally for the first months and then lose purposeful hand use and speech. In 1999 a research team led by Huda Zoghbi traced most cases to mutations in the MECP2 gene on the X chromosome, and treatment today is supportive.

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