Fragile X syndrome: a review of associated medical problems

Pediatrics. 2014 Nov;134(5):995-1005. doi: 10.1542/peds.2013-4301. Epub 2014 Oct 6.


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.

Keywords: fragile X syndrome; gastrointestinal; growth; otitis media; review; seizures; sleep; strabismus.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Child Development Disorders, Pervasive / diagnosis
  • Child Development Disorders, Pervasive / epidemiology
  • Child Development Disorders, Pervasive / psychology
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / epidemiology*
  • Fragile X Syndrome / psychology
  • Gastrointestinal Diseases / diagnosis
  • Gastrointestinal Diseases / epidemiology
  • Gastrointestinal Diseases / psychology
  • Heart Diseases / diagnosis
  • Heart Diseases / epidemiology
  • Heart Diseases / psychology
  • Humans
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / epidemiology
  • Nervous System Malformations / psychology
  • Quality of Life / psychology
  • Seizures / diagnosis
  • Seizures / epidemiology
  • Seizures / psychology