Jove
Visualize
Contact Us

Related Experiment Videos

Rett syndrome.

C T Chew, K R Lyen

    The Journal of the Singapore Paediatric Society
    |January 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

    Rett Syndrome, a neurological disorder, affects girls with developmental regression and loss of hand function. Early diagnosis is crucial as it can be challenging without definitive lab markers.

    Related Experiment Videos

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Secular trend of growth in pre-school children in Singapore.

    Asia Pacific journal of clinical nutrition·2013
    Same author

    Ministry of health clinical practice guidelines: cancer screening.

    Singapore medical journal·2010
    Same author

    Epstein Barr virus (EBV) antibodies in the diagnosis of NPC--comparison between IFA and two commercial ELISA kits.

    Singapore medical journal·1998
    Same author

    T-cell receptor gene expression in tumour-infiltrating lymphocytes and peripheral blood lymphocytes of patients with nasopharyngeal carcinoma.

    British journal of cancer·1995
    Same author

    Fine needle aspiration of 123 head and neck masses--an initial experience.

    Annals of the Academy of Medicine, Singapore·1993
    Same author

    Malignant mixed tumour arising from minor salivary gland tissue of the right parapharyngeal space with metastasis to the scalp.

    Annals of the Academy of Medicine, Singapore·1992
    Same journal

    Lessons from Wilms' tumor.

    The Journal of the Singapore Paediatric Society·1992
    Same journal

    Efficacy of Zaditen (ketotifen) in wheezy infants and young children.

    The Journal of the Singapore Paediatric Society·1992
    Same journal

    Post-streptococcal glomerulonephritis with minimal abnormalities in the urinary sediment.

    The Journal of the Singapore Paediatric Society·1992
    Same journal

    The pressure-dependent nature of the rash in Henoch Schönlein purpura.

    The Journal of the Singapore Paediatric Society·1992
    Same journal

    The Moebius sequence--report of a case and a short annotation.

    The Journal of the Singapore Paediatric Society·1992
    Same journal

    Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome)--a case report and review.

    The Journal of the Singapore Paediatric Society·1992
    See all related articles
    JoVE
    x logofacebook logolinkedin logoyoutube logo
    ABOUT JoVE
    OverviewLeadershipBlogJoVE Help Center
    AUTHORS
    Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
    LIBRARIANS
    TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
    RESEARCH
    JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
    EDUCATION
    JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
    Terms & Conditions of Use
    Privacy Policy
    Policies

    Area of Science:

    • Neurology
    • Genetics
    • Pediatrics

    Background:

    • Rett Syndrome is a rare neurodevelopmental disorder primarily affecting females.
    • Diagnosis can be challenging, particularly in early stages, due to the absence of specific laboratory markers.

    Observation:

    • Presents five girls (aged 2.5-10 years) with Rett Syndrome, exhibiting classic symptoms.
    • Observed features include developmental regression, dementia, loss of hand function, and stereotyped hand movements.

    Findings:

    • The study highlights the classic clinical presentation of Rett Syndrome in affected girls.
    • Emphasizes the diagnostic difficulty in early stages before the full spectrum of symptoms emerges.

    Implications:

    • Reinforces the importance of adhering to established diagnostic criteria for Rett Syndrome.
    • Suggests Rett Syndrome may be an underrecognized cause of severe progressive neurological disability in girls.