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American Academy of Pediatrics
State-of-the-Art Review Article

Fragile X Syndrome: A Review of Associated Medical Problems

Sharon A. Kidd, Ave Lachiewicz, Deborah Barbouth, Robin K. Blitz, Carol Delahunty, Dianne McBrien, Jeannie Visootsak and Elizabeth Berry-Kravis
Pediatrics November 2014, 134 (5) 995-1005; DOI: https://doi.org/10.1542/peds.2013-4301
Sharon A. Kidd
aNational Fragile X Foundation, Walnut Creek, California;
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Ave Lachiewicz
Departments of bPediatrics,
cPsychiatry, and
dBehavioral Sciences, Duke University Medical Center, Durham, North Carolina;
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Deborah Barbouth
eDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida;
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Robin K. Blitz
fDevelopmental Pediatrics, Barrow Neurologic Institute at Phoenix Children’s Hospital, Phoenix, Arizona;
gDepartment of Pediatrics, University of Arizona College of Medicine, Phoenix, Arizona;
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Carol Delahunty
hDepartment of Developmental and Rehabilitation Pediatrics, Cleveland Clinic, Cleveland, Ohio;
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Dianne McBrien
iDepartment of Pediatrics, University of Iowa Medical Center, Iowa City, Iowa;
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Jeannie Visootsak
Departments of jHuman Genetics, and
kPediatrics, Emory University, Atlanta, Georgia; and
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Elizabeth Berry-Kravis
Departments of lPediatrics,
mNeurologic Sciences, and
nBiochemistry, Rush University Medical Center, Chicago, Illinois
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Abstract

Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known single-gene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families.

  • fragile X syndrome
  • otitis media
  • seizures
  • strabismus
  • gastrointestinal
  • sleep
  • growth
  • review
  • Accepted May 29, 2014.
  • Copyright © 2014 by the American Academy of Pediatrics

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Pediatrics
Vol. 134, Issue 5
1 Nov 2014
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Fragile X Syndrome: A Review of Associated Medical Problems
Sharon A. Kidd, Ave Lachiewicz, Deborah Barbouth, Robin K. Blitz, Carol Delahunty, Dianne McBrien, Jeannie Visootsak, Elizabeth Berry-Kravis
Pediatrics Nov 2014, 134 (5) 995-1005; DOI: 10.1542/peds.2013-4301

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Fragile X Syndrome: A Review of Associated Medical Problems
Sharon A. Kidd, Ave Lachiewicz, Deborah Barbouth, Robin K. Blitz, Carol Delahunty, Dianne McBrien, Jeannie Visootsak, Elizabeth Berry-Kravis
Pediatrics Nov 2014, 134 (5) 995-1005; DOI: 10.1542/peds.2013-4301
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