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
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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