Longitudinal hand function in Rett syndrome

Jennepher Downs, Ami Bebbington, Walter E. Kaufmann, Helen Leonard

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping abilities lost skill over the 3- to 4-year period between video assessments. In these subjects, a decrease in hand function was seen less frequently in girls 13 to 19 years old than in those younger than 8 years, in subjects with some mobility compared with those who were wheelchair bound, and in those who had previously been able to finger feed. Relationships with the magnitude of change reflected these findings. Change in hand function did not vary with clinical severity. The results for all subjects were similar to results obtained when analysis was restricted to those with a pathogenic mutation. Variability in the longitudinal course of hand function in Rett syndrome was observed.

    Original languageEnglish (US)
    Pages (from-to)334-340
    Number of pages7
    JournalJournal of child neurology
    Volume26
    Issue number3
    DOIs
    StatePublished - Mar 2011

    Keywords

    • MECP2
    • Rett syndrome
    • hand function
    • longitudinal
    • phenotype

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Clinical Neurology

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