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

    Need for a new international rare disease database: the MECP2 duplication syndrome

    Access Status
    Fulltext not available
    Authors
    Leonard, H.
    Downs, Jennepher
    Lim, Z.
    Wong, K.
    Murphy, N.
    Epstein, A.
    Ellaway, C.
    Date
    2015
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Leonard, H. and Downs, J. and Lim, Z. and Wong, K. and Murphy, N. and Epstein, A. and Ellaway, C. 2015. Need for a new international rare disease database: the MECP2 duplication syndrome [Oral abstract]. Journal of Intellectual Disability Research. 59 (9): pp. 792-793.
    Source Title
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    DOI
    10.1111/jir.12212
    ISSN
    0964-2633
    School
    School of Physiotherapy and Exercise Science
    URI
    http://hdl.handle.net/20.500.11937/19046
    Collection
    • Curtin Research Publications
    Abstract

    Background: Individuals who have two or more copies of the MECP2 gene, located at Xq28, have been found to share clinical features and a distinct facial phenotype known as MECP2 duplication syndrome (MDS). The aims of this study are to provide a preliminary snapshot of MDS to inform the development of a new international database. Methods: The International Rett Syndrome Database, first established in 2002, collects data on Rett syndrome and Rett-related disorders including MDS. Results: Data are available on 57 cases (49 males and 8 females) with MDS. Median age at ascertainment was 7.9 years (range 1.2–37.6 years) and at diagnosis 3 years (range 3–37 years). Only 10% had an initial diagnosis of MDS. Less than a third (30%) learned to walk (median age 30 months), while 70% learned to use babble or words (median age 15 months). Speech deterioration was reported in 37%, and only 20% were able to use word approximations or better at ascertainment. The majority (85%) had been hospitalized in the first 2 years of life often because of respiratory infections. Just under half (45%) had seizures, occurring daily in half (56%) of this group. Scoliosis affected a quarter of those aged over 7 years. The majority (90%) had gastrointestinal problems, and a third had a gastrostomy. Respiratory infections and sleep apnoea were common. Conclusion: Parents and clinicians alike need to know more about this disorder, particularly the occurrence of co-morbidities and their management. These data supported by consumer consultation will inform the development of a new MDS-specific international database.

    Related items

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

    • Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome
      Freilinger, M.; Böhm, M.; Lanator, I.; Vergesslich-Rothschild, K.; Huber, W.; Anderson, A.; Wong, K.; Baikie, G.; Ravikumara, M.; Downs, Jennepher; Leonard, H. (2014)
      AIM: This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of ...
    • Twenty years of surveillance in Rett syndrome: what does this tell us?
      Anderson, A.; Wong, K.; Jacoby, P.; Downs, Jennepher; Leonard, H. (2014)
      Background: The clinical characteristics of children diagnosed with Rett syndrome are well described. Survival and how these characteristics persist or change in adulthood are less well documented. This study aimed to ...
    • Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
      Urbanowicz, A.; Downs, Jennepher; Girdler, S.; Ciccone, N.; Leonard, H. (2015)
      This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. Cross-sectional data on 766 girls, aged 15 years and under, ...
    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.