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Describing the phenotype in Rett syndrome using a population database

Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., de Klerk, N.

Academic Literature


This article presents findings of a study which describes the variation in phenotype in Rett syndrome using four different scales, by means of a population database.

A total of 199 verified cases of Rett syndrome were reported between January 1993 and July 2000; 152 families provided information for the follow up study. The results of this study have expanded on the descriptive epidemiology of Rett syndrome and shown different patterns according to the severity scale selected. Although all affected children are severely functionally dependent, it is still possible to identify some variation in ability.

Publication information

Journal/Publication : Archives of Disease in Childhood

Location : International

Domain/s: Health and wellbeing

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