Curtin University Homepage
  • Library
  • Help
    • Admin

    espace - Curtin’s institutional repository

    JavaScript is disabled for your browser. Some features of this site may not work without it.
    View Item 
    • espace Home
    • espace
    • Curtin Research Publications
    • View Item
    • espace Home
    • espace
    • Curtin Research Publications
    • View Item

    Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

    Access Status
    Fulltext not available
    Authors
    Boban, S.
    Wong, K.
    Epstein, A.
    Anderson, B.
    Murphy, N.
    Downs, Jennepher
    Leonard, H.
    Date
    2016
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Boban, S. and Wong, K. and Epstein, A. and Anderson, B. and Murphy, N. and Downs, J. and Leonard, H. 2016. Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype. American Journal of Medical Genetics. Part A. 170 (9): pp. 2292-2300.
    Source Title
    American Journal of Medical Genetics. Part A
    DOI
    10.1002/ajmg.a.37784
    ISSN
    1552-4825
    School
    School of Physiotherapy and Exercise Science
    URI
    http://hdl.handle.net/20.500.11937/29045
    Collection
    • Curtin Research Publications
    Abstract

    Rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene. Sleep problems and epilepsy are two of many comorbidities associated with this disorder. This study investigated the prevalence and determinants of sleep problems in Rett syndrome using an international sample. Families with a child with a confirmed Rett syndrome diagnosis and a MECP2 mutation registered in the International Rett Syndrome Phenotype Database (InterRett) were invited to participate. Questionnaires were returned by 364/461 (78.9%) either in web-based or paper format. Families completed the Sleep Disturbance Scale for Children and provided information on the presence, nature, and frequency of their child's sleep problems. Multivariate multinomial regression was used to investigate the relationships between selected sleep problems, age group, and genotype and linear regression for the relationships between sleep disturbance scales and a range of covariates. Night waking was the most prevalent sleep problem affecting over 80% with nearly half (48.3%) currently waking often at night. Initiating and maintaining sleep was most disturbed for younger children and those with a p.Arg294* mutation. Severe seizure activity was associated with poor sleep after adjusting for age group, mutation type, and mobility. We were surprised to find associations between the p.Arg294* mutation and some sleep disturbances given that other aspects of its phenotype are milder. These findings highlight the complexities of aberrant MECP2 function in Rett syndrome and explain some of the variation in manifestation of sleep disturbances.

    Related items

    Showing items related by title, author, creator and subject.

    • The trajectories of sleep disturbances in Rett syndrome
      Wong, K.; Leonard, H.; Jacoby, P.; Ellaway, C.; Downs, Jennepher (2015)
      Rett syndrome is a rare neurodevelopmental disorder usually affecting females, and is associated with a mutation in the MECP2 gene. Sleep problems occur commonly and we investigated the trajectories and influences of age, ...
    • Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices
      Boban, S.; Leonard, H.; Wong, K.; Wilson, A.; Downs, Jennepher (2018)
      © 2018 Wiley Periodicals, Inc. Sleep disturbances are debilitating for individuals with Rett syndrome (RTT) and their families yet the evidence base for management is poor. We investigated management strategies and their ...
    • Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
      Mangatt, M.; Wong, K.; Anderson, B.; Epstein, A.; Hodgetts, S.; Leonard, H.; Downs, Jennepher (2016)
      Background: Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities ...
    Advanced search

    Browse

    Communities & CollectionsIssue DateAuthorTitleSubjectDocument TypeThis CollectionIssue DateAuthorTitleSubjectDocument Type

    My Account

    Admin

    Statistics

    Most Popular ItemsStatistics by CountryMost Popular Authors

    Follow Curtin

    • 
    • 
    • 
    • 
    • 

    CRICOS Provider Code: 00301JABN: 99 143 842 569TEQSA: PRV12158

    Copyright | Disclaimer | Privacy statement | Accessibility

    Curtin would like to pay respect to the Aboriginal and Torres Strait Islander members of our community by acknowledging the traditional owners of the land on which the Perth campus is located, the Whadjuk people of the Nyungar Nation; and on our Kalgoorlie campus, the Wongutha people of the North-Eastern Goldfields.