Longitudinal hand function in Rett syndrome

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 betw...

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Main Authors: Downs, Jennepher, Bebbington, A., Kaufmann, W., Leonard, H.
Format: Journal Article
Published: Sage Publications, Inc. 2011
Subjects:
Online Access:http://hdl.handle.net/20.500.11937/23479
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author Downs, Jennepher
Bebbington, A.
Kaufmann, W.
Leonard, H.
author_facet Downs, Jennepher
Bebbington, A.
Kaufmann, W.
Leonard, H.
author_sort Downs, Jennepher
building Curtin Institutional Repository
collection Online Access
description 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.
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spelling curtin-20.500.11937-234792017-09-13T13:57:43Z Longitudinal hand function in Rett syndrome Downs, Jennepher Bebbington, A. Kaufmann, W. Leonard, H. Rett syndrome hand function MECP2 phenotype longitudinal 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. 2011 Journal Article http://hdl.handle.net/20.500.11937/23479 10.1177/0883073810381920 Sage Publications, Inc. restricted
spellingShingle Rett syndrome
hand function
MECP2
phenotype
longitudinal
Downs, Jennepher
Bebbington, A.
Kaufmann, W.
Leonard, H.
Longitudinal hand function in Rett syndrome
title Longitudinal hand function in Rett syndrome
title_full Longitudinal hand function in Rett syndrome
title_fullStr Longitudinal hand function in Rett syndrome
title_full_unstemmed Longitudinal hand function in Rett syndrome
title_short Longitudinal hand function in Rett syndrome
title_sort longitudinal hand function in rett syndrome
topic Rett syndrome
hand function
MECP2
phenotype
longitudinal
url http://hdl.handle.net/20.500.11937/23479