Jove
Visualize
Contact Us
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

Related Experiment Videos

Fragile X syndrome.

A E Cronister, R J Hagerman

    Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners
    |January 1, 1989
    PubMed
    Summary

    Fragile X syndrome, the most common inherited cause of intellectual disability, affects about 1 in 1000 males. Early diagnosis and intervention are crucial for managing this genetic condition.

    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

    Early identification and treatment of genetic and neurodevelopmental disorders.

    Journal of intellectual disability research : JIDR·2024
    Same author

    A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders.

    European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology·2021
    Same author

    [Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].

    Revista de neurologia·2019
    Same author

    Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome.

    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics·2017
    Same author

    Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome.

    European journal of medical genetics·2016
    Same author

    Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation.

    The Clinical neuropsychologist·2016

    Area of Science:

    • Genetics
    • Neurology
    • Developmental Biology

    Background:

    • Fragile X syndrome is a significant genetic disorder.
    • It is the leading inherited cause of intellectual disability, affecting approximately 1 in 1000 male births.
    • Recent advancements in cytogenetic diagnosis mean many cases remain unidentified.

    Purpose of the Study:

    • To review the characteristic clinical features of Fragile X syndrome.
    • To discuss current treatment and intervention strategies for affected individuals.

    Main Methods:

    • Literature review of genetic and clinical studies on Fragile X syndrome.
    • Synthesis of information on diagnostic criteria and clinical manifestations.
    • Overview of established and emerging therapeutic approaches.

    Main Results:

    • Fragile X syndrome presents with a distinct set of clinical features.
    • Early identification is often missed due to diagnostic limitations.
    • A range of interventions can help manage symptoms and improve outcomes.

    Conclusions:

    • Fragile X syndrome requires increased awareness and diagnostic efforts.
    • Comprehensive management involving clinical interventions is essential.
    • Further research into treatment options is warranted.

    Related Experiment Videos