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    Change in Gross Motor Abilities of Girls and Women with Rett Syndrome Over a 3- to 4- Year Period

    Access Status
    Fulltext not available
    Authors
    Foley, K.
    Downs, Jennepher
    Bebbington, A.
    Jacoby, P.
    Girdler, S.
    Kaufmann, W.
    Leonard, H.
    Date
    2011
    Type
    Journal Article
    
    Metadata
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    Citation
    Foley, Kitty-Rose and Downs, Jenny and Bebbington, Ami and Jacoby, Peter and Girdler, Sonya and Kaufmann, Walter E. and Leonard, Helen. 2011. Change in Gross Motor Abilities of Girls and Women with Rett Syndrome Over a 3- to 4-Year Period. Journal of Child Neurology. 26 (10): pp. 1237-1245.
    Source Title
    Journal of Child Neurology
    DOI
    10.1177/0883073811402688
    ISSN
    08830738
    School
    School of Physiotherapy
    URI
    http://hdl.handle.net/20.500.11937/3520
    Collection
    • Curtin Research Publications
    Abstract

    Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database. Linear regression was used to assess relationships with age, genotype, and general and complex gross motor skills scores measured on the Gross Motor Scale for Rett syndrome. Skills were slightly better or maintained in approximately 40% of subjects and slightly decreased in approximately 60%. Teenagers and women who walked in 2004 were less likely to lose complex skills than those younger. Girls with a p.R294X mutation were more likely to lose complex motor skills, otherwise skill changes were spread across the mutation categories. In conclusion, small changes were observed over this period with greater stability of skills in teenagers and women with the ability to walk.

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