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

    Atypical Presentations and Specific Genotypes Are Associated With a Delay in Diagnosis in Females With Rett Syndrome

    Access Status
    Fulltext not available
    Authors
    Fehr, S.
    Downs, Jennepher
    Bebbington, A.
    Leonard, H.
    Date
    2010
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Fehr, Stephanie and Downs, Jenny and Bebbington, Ami and Leonard, Helen. 2010. Atypical Presentations and Specific Genotypes Are Associated With a Delay in Diagnosis in Females With Rett Syndrome. American Journal of Medical Genetics Part A. 152A (10): pp. 2535-2542.
    Source Title
    American Journal of Medical Genetics. Part A
    DOI
    10.1002/ajmg.a.33640
    ISSN
    1552-4825
    School
    School of Physiotherapy
    URI
    http://hdl.handle.net/20.500.11937/47671
    Collection
    • Curtin Research Publications
    Abstract

    There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. We hypothesized that girls with an atypical presentation or whose family had a lower socio-economic status would receive a later diagnosis. Female subjects with a confirmed diagnosis of Rett syndrome were sourced from the Australian Rett Syndrome and InterRett Databases. Variables analyzed included timing and development of symptoms; MECP2 mutation type; parental occupation and education; maternal age and birth order. Residential location and socio-economic status were also analyzed for the Australian cases. Linear regression was used to determine relationships between these factors and age at diagnosis.A total of 909 cases were included. An older age of diagnosis was associated with later loss of hand function and speech, later onset of hand stereotypies and the presence of the p.R133C or p.R294X MECP2 mutation. Socio-economic factors did not predict age of diagnosis for Australian families. For families participating in the InterRett database, a younger age of diagnosis was associated with higher levels of parental education or occupation. A clinical picture consistent with the classic presentation of Rett syndrome is associated with an earlier diagnosis. Clinicians need to be alerted to the variable presentation of Rett syndrome including the milder phenotypes of cases with the p.R133C or p.R294X mutation. Educational resources to assist this understanding including guidance on when to request genetic testing could be useful to streamline the process of diagnosis in Rett syndrome.

    Related items

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

    • The impact of domestic and school air quality on respiratory symptoms among primary school students with different socioeconomic backgrounds
      Mostafaee, Masoud (2010)
      Respiratory symptoms including wheezing, tight chest, breathing difficulty, are common childhood disorders, and are the most important reasons for (National Health and Medical Research Council 1996; Rumchev, Spickett et ...
    • Indoor air quality, house characteristics and respiratory symptoms among mothers and children in Tamil Nadu State, India
      Kandiah, Morgan Dharmaratnam (2010)
      Air pollution is a problem affecting developing and developed countries concerned about the adverse health effects associated with exposure to indoor and outdoor air pollutants. In developing countries like India, the ...
    • Inter-hospital transfers and door-to-balloon times for STEMI: a single centre cohort study
      Forsyth, René; Sun, Zhonghua ; Reid, C.; Moorin, R. (2020)
      Background Key performance indices such as door-to-balloon times have long been recognized as quality metrics in reducing time to care for patients with acute coronary syndromes (ACS). In the situation where patients do ...
    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.