title: Fragile X syndrome: a review of associated medical problems.
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.
authors.affiliation: National Fragile X Foundation, Walnut Creek, California; sharon@fragilex.org.
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Kidd
authors.affiliation: Departments of Pediatrics, Psychiatry, and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina;
authors.forename: Ave
authors.initials: A
authors.lastname: Lachiewicz
authors.affiliation: Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida;
authors.forename: Deborah
authors.initials: D
authors.lastname: Barbouth
authors.affiliation: Developmental Pediatrics, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona; Department of Pediatrics, University of Arizona College of Medicine, Phoenix, Arizona;
authors.forename: Robin K
authors.initials: RK
authors.lastname: Blitz
authors.affiliation: Department of Developmental and Rehabilitation Pediatrics, Cleveland Clinic, Cleveland, Ohio;
authors.forename: Carol
authors.initials: C
authors.lastname: Delahunty
authors.affiliation: Department of Pediatrics, University of Iowa Medical Center, Iowa City, Iowa;
authors.forename: Dianne
authors.initials: D
authors.lastname: McBrien
authors.affiliation: Departments of Human Genetics, and Pediatrics, Emory University, Atlanta, Georgia; and.
authors.forename: Jeannie
authors.initials: J
authors.lastname: Visootsak
authors.affiliation: Departments of Pediatrics, Neurologic Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
mesh_terms: D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000523:psychology; D005767:Gastrointestinal Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology; D006331:Heart Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology; D006801:Humans; D009421:Nervous System Malformations / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology; D011788:Quality of Life / Q000523:psychology; D012640:Seizures / Q000175:diagnosis / Q000453:epidemiology / Q000523:psychology
keywords: fragile X syndrome; gastrointestinal; growth; otitis media; review; seizures; sleep; strabismus