Journal article
Fragile X syndrome: a review of associated medical problems
Pediatrics (Evanston), Vol.134(5), pp.995-1005
11/2014
DOI: 10.1542/peds.2013-4301
PMID: 25287458
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.
Details
- Title: Subtitle
- Fragile X syndrome: a review of associated medical problems
- Creators
- Sharon A Kidd - National Fragile X Foundation, Walnut Creek, California; sharon@fragilex.orgAve Lachiewicz - Departments of Pediatrics, Psychiatry, and Behavioral Sciences, Duke University Medical Center, Durham, North CarolinaDeborah Barbouth - Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FloridaRobin K Blitz - Developmental Pediatrics, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona; Department of Pediatrics, University of Arizona College of Medicine, Phoenix, ArizonaCarol Delahunty - Department of Developmental and Rehabilitation Pediatrics, Cleveland Clinic, Cleveland, OhioDianne McBrien - Department of Pediatrics, University of Iowa Medical Center, Iowa City, IowaJeannie Visootsak - Departments of Human Genetics, and Pediatrics, Emory University, Atlanta, Georgia; andElizabeth Berry-Kravis - Departments of Pediatrics, Neurologic Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois
- Resource Type
- Journal article
- Publication Details
- Pediatrics (Evanston), Vol.134(5), pp.995-1005
- DOI
- 10.1542/peds.2013-4301
- PMID
- 25287458
- NLM abbreviation
- Pediatrics
- ISSN
- 0031-4005
- eISSN
- 1098-4275
- Publisher
- American Academy of Pediatrics
- Grant note
- 5U01DD000231 / NCBDD CDC HHS 5U19DD000753-02 / NCBDD CDC HHS
- Language
- English
- Date published
- 11/2014
- Academic Unit
- Stead Family Department of Pediatrics; Developmental and Behavioral Pediatrics
- Record Identifier
- 9984093321402771
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