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

The fragile X syndrome.

E Goldson1, R J Hagerman

  • 1Department of Pediatrics, University of Colorado, Health Sciences Center, Denver 80218.

Developmental Medicine and Child Neurology
|September 1, 1992
PubMed
Summary

This disorder affects more than just intellectual disability, causing learning and emotional issues in carriers. Early identification and multidisciplinary intervention are crucial for managing affected children.

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:

  • Neurodevelopmental Disorders
  • Genetics
  • Pediatric Medicine

Background:

  • The spectrum of this genetic disorder extends beyond intellectual disability.
  • Mildly affected female carriers with normal IQs often experience learning and emotional challenges.
  • These challenges present significant difficulties for healthcare, education, and therapy professionals.

Purpose of the Study:

  • To highlight the broader impact of this disorder.
  • To emphasize the need for early identification and intervention strategies.
  • To advocate for a multidisciplinary approach in managing affected children.

Main Methods:

  • Literature review on the disorder's presentation in various populations.
  • Analysis of case studies illustrating learning and emotional problems in carriers.
  • Synthesis of expert recommendations for multidisciplinary care.

Main Results:

  • The disorder frequently causes learning disabilities and emotional problems in female carriers.
  • Affected children require specialized support across medical, educational, and therapeutic fields.
  • Early detection is critical for effective management.

Conclusions:

  • A comprehensive understanding of this disorder is essential for all child-care providers.
  • Innovative and multidisciplinary strategies are key to successful intervention.
  • Increased professional awareness will improve early identification and referral for support.

Related Experiment Videos