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Fragile X Syndrome

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Fragile X Syndrome

(Martin-Bell Syndrome; FXS)

Definition

Fragile X syndrome (FXS) is a genetic problem that results in intellectual disability.

Cognitive Mapping of the Brain.

Copyright © 2002 Nucleus Communications, Inc. All rights reserved.

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Causes

FXS is inherited from parents. It is caused by problems with the FMR1 gene. These problems stop the fragile X mental retardation protein (FMRP) from developing. This protein is needed to make connections in the brain.

Risk Factors

The risk of this problem is higher in people who have a family history of the faulty FMR1 gene.

Symptoms

Problems are different from person to person. They happen less often and are mild in females. Problems may be:

  • Learning problems
  • Slowed development
  • Speech problems
  • Behavioral problems, such as:
    • Mood swings
    • Outbursts
    • Being very sensitive to loud noises or bright lights
    • Aggression
    • Extreme shyness, especially in girls
  • Physical problems, such as:
    • A long face with a jaw that sticks out
    • Large ears
    • Flat feet
    • Joints that bend past normal limits
    • A high-pitched voice and enlarged testes in males after puberty
    • Floppy muscles
    • Problems with motor skills like sitting and walking

Diagnosis

The doctor will ask about your child's symptoms and health history. A physical exam will be done.

The diagnosis can be confirmed with a genetic test.

Treatment

There is no cure for FXS. The goal is to manage symptoms. Choices are:

  • Medicines, such as:
    • Stimulants to treat attention and behavior problems
    • Medicine to control mental health problems
    • Antiseizure medicines
  • Speech, occupational, physical, or behavioral therapy
  • Special education services to help with learning

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Fragile X syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/fragile-x-syndrome. Accessed November 4, 2020.
  • Fragile X syndrome overview. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/fragilex/Pages/default.aspx. Accessed November 4, 2020.
  • Lozano R, Azarang A, et al. Fragile X syndrome: A review of clinical management. Intractable Rare Dis Res. 2016 Aug;5(3):145-157.
  • What is fragile X? FRAXA Research Foundation website. Available at: http://www.fraxa.org/fragilex. Accessed November 4, 2020.

Contributors

  • Kari Kassir, MD
Last Updated:
2020-09-01

(C) Copyright 2022 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.