{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:18:40Z","timestamp":1791328720868,"version":"4.3.1"},"reference-count":96,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,11,1]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1542\/peds.2013-4301","type":"journal-article","created":{"date-parts":[[2014,10,7]],"date-time":"2014-10-07T04:44:20Z","timestamp":1412657060000},"page":"995-1005","source":"Crossref","is-referenced-by-count":228,"title":["Fragile X Syndrome: A Review of Associated Medical Problems"],"prefix":"10.1542","volume":"134","author":[{"given":"Sharon A.","family":"Kidd","sequence":"first","affiliation":[{"name":"National Fragile X Foundation, Walnut Creek, California;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ave","family":"Lachiewicz","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics,"},{"name":"Psychiatry, and"},{"name":"Behavioral Sciences, Duke University Medical Center, Durham, North Carolina;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Barbouth","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin K.","family":"Blitz","sequence":"additional","affiliation":[{"name":"Developmental Pediatrics, Barrow Neurologic Institute at Phoenix Children\u2019s Hospital, Phoenix, Arizona;"},{"name":"Department of Pediatrics, University of Arizona College of Medicine, Phoenix, Arizona;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Delahunty","sequence":"additional","affiliation":[{"name":"Department of Developmental and Rehabilitation Pediatrics, Cleveland Clinic, Cleveland, Ohio;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianne","family":"McBrien","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Iowa Medical Center, Iowa City, Iowa;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeannie","family":"Visootsak","sequence":"additional","affiliation":[{"name":"Departments of Human Genetics, and"},{"name":"Pediatrics, Emory University, Atlanta, Georgia; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Berry-Kravis","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics,"},{"name":"Neurologic Sciences, and"},{"name":"Biochemistry, Rush University Medical Center, Chicago, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2014,11,1]]},"reference":[{"issue":"9","key":"2021121019204531100_B1","doi-asserted-by":"crossref","first-page":"e003660","DOI":"10.1136\/bmjopen-2013-003660","article-title":"Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population.","volume":"3","author":"Martyn","year":"2013","journal-title":"BMJ Open"},{"issue":"5","key":"2021121019204531100_B2","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1542\/peds.2010-3500","article-title":"Health supervision for children with fragile X syndrome.","volume":"127","author":"Hersh","year":"2011","journal-title":"Pediatrics"},{"issue":"5","key":"2021121019204531100_B3","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","article-title":"Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.","volume":"65","author":"Verkerk","year":"1991","journal-title":"Cell"},{"issue":"5009","key":"2021121019204531100_B4","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1126\/science.252.5009.1179","article-title":"Fragile X genotype characterized by an unstable region of DNA.","volume":"252","author":"Yu","year":"1991","journal-title":"Science"},{"key":"2021121019204531100_B5","first-page":"219","article-title":"Molecular mechanisms of fragile X syndrome: a twenty-year perspective","volume-title":"Annu Rev Pathol","author":"Santoro","year":"2012"},{"issue":"5","key":"2021121019204531100_B6","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1097\/00125817-200109000-00006","article-title":"FMR1 and the fragile X syndrome: human genome epidemiology review.","volume":"3","author":"Crawford","year":"2001","journal-title":"Genet Med"},{"issue":"3","key":"2021121019204531100_B7","doi-asserted-by":"crossref","first-page":"216","DOI":"10.2174\/138920211795677886","article-title":"Fragile X syndrome.","volume":"12","author":"McLennan","year":"2011","journal-title":"Curr Genomics"},{"key":"2021121019204531100_B8","doi-asserted-by":"crossref","DOI":"10.56021\/9780801868436","volume-title":"Fragile X Syndrome Diagnosis, Treatment, and Research","author":"Hagerman","year":"2002","edition":"3rd ed."},{"issue":"4","key":"2021121019204531100_B9","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1001\/jama.1989.03430040095032","article-title":"Association of mitral valve prolapse and systemic abnormalities of connective tissue. 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