Fragile X Syndrome
Fragile X Syndrome
(Martin-Bell Syndrome; FXS)
|Cognitive Mapping of the Brain|
|Copyright © Nucleus Medical Media, Inc.|
- Mental impairment ranging from learning disabilities to intellectual disability
- Behavioral difficulties, including:
- Autistic behaviors
Physical problems and abnormalities, including:
- Long face with protruding jaw
- Large, protruding ears
- Flat feet
- Hyperextended joints
- High-pitched voice and enlarged testes in males after puberty
- Mitral valve prolapse
- Low muscle tone
- Physical, cognitive, or emotional symptoms of FXS
- Unexplained developmental delays or intellectual disability
- Stimulants, such as Ritalin, and other medicines to treat hyperactive behavior
Psychotherapeutic drugs such as fluoxetine to help control:
- Emotional outbursts
- Anticonvulsants such as carbamazepine to control seizures
- School work that only requires a short attention span
- Minimal distractions
- Predictable activities and classroom routine
- Close communication between parent and school
- Emphasis on functional life skills
FRAXA Research Foundation http://www.fraxa.org
The National Fragile X Foundation http://www.fragilex.org
Fragile X Research Foundation of Canada http://www.fragilexcanada.ca
The Hospital for Sick Children http://www.sickkids.ca
Bardoni B, Davidovic L, Bensaid M, Khandjian EW. The fragile X syndrome: exploring its molecular basis and seeking a treatment. Expert Rev Mol Med . 2006;8(8):1-16.
Committee on Genetics health supervision for children with fragile X syndrome. Pediatrics. 2011;127;994.
Fragile X syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated February 19, 2013. Accessed June 24, 2013.
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 . Updated April 3, 2013. Accessed June 24, 2013.
What is fragile X? FRAXA Research Foundation website. Available at: http://www.fraxa.org/fragilex.aspx . Accessed June 24, 2013.
Willemsen R, Anar B, De Diego Otero Y, et al. Noninvasive test for fragile X syndrome, using hair root analysis. Am J Hum Genet . 1999;65(1):98-103.
- Reviewer: Rimas Lukas, MD; Michael Woods, MD
- Review Date: 06/2013 -
- Update Date: 05/11/2013 -