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    Determinants of quality of life in Rett syndrome: New findings on associations with genotype

    86655.pdf (1.015Mb)
    Access Status
    Open access
    Authors
    Mendoza, J.
    Downs, Jennepher
    Wong, K.
    Leonard, H.
    Date
    2021
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Mendoza, J. and Downs, J. and Wong, K. and Leonard, H. 2021. Determinants of quality of life in Rett syndrome: New findings on associations with genotype. Journal of Medical Genetics. 58 (9): pp. 637-644.
    Source Title
    Journal of Medical Genetics
    DOI
    10.1136/jmedgenet-2020-107120
    ISSN
    0022-2593
    Faculty
    Faculty of Health Sciences
    School
    Curtin School of Allied Health
    Funding and Sponsorship
    http://purl.org/au-research/grants/nhmrc/1103745
    http://purl.org/au-research/grants/nhmrc/1103746
    http://purl.org/au-research/grants/nhmrc/1117105
    Remarks

    This article has been accepted for publication in Journal of Medical Genetics, 2021 following peer review, and the Version of Record can be accessed online at http://dx.doi.org/10.1136/jmedgenet-2020-107120.

    URI
    http://hdl.handle.net/20.500.11937/86907
    Collection
    • Curtin Research Publications
    Abstract

    Background: Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.

    Methods: The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for Children, the Rett Syndrome Behavioural Questionnaire), parental health (12-item Short Form Health Survey) sociodemographic factors (parental employment and education) and quality of life (Quality of Life Inventory-Disability) for 210 individuals with Rett syndrome. Univariate and multivariate regressions were used to analyse the relationships between the independent variables and quality of life.

    Results: Compared with individuals with the p.Arg270∗ mutation, those with the p.Arg294∗ mutation type had the poorest quality of life (coeff -12.81, 95% CI -23.49 to 2.12), despite this being recognised as a clinically milder genotype. Overall better walking and feeding skills and seizure parameters were more associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life.

    Conclusions: These findings suggest that genotype, functioning and health each have implications for quality of life and should be considered when counselling families and planning clinical and support management strategies.

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