title: Cholesterol levels in fragile X syndrome.
abstract: Fragile X syndrome (FXS) is associated with intellectual disability and behavioral dysfunction, including anxiety, ADHD symptoms, and autistic features. Although individuals with FXS are largely considered healthy and lifespan is not thought to be reduced, very little is known about the long-term medical health of adults with FXS and no systematically collected information is available on standard laboratory measures from metabolic screens. During the course of follow up of a large cohort of patients with FXS we noted that many patients had low cholesterol and high density lipoprotein (HDL) values and thus initiated a systematic chart review of all cholesterol values present in charts from a clinic cohort of over 500 patients with FXS. Total cholesterol (TC), low density lipoprotein (LDL) and HDL were all significantly reduced in males from the FXS cohort relative to age-adjusted population normative data. This finding has relevance for health monitoring in individuals with FXS, for treatments with cholesterol-lowering agents that have been proposed to target the underlying CNS disorder in FXS based on work in animal models, and for potential biomarker development in FXS.
authors.affiliation: Departments of Pediatrics, Rush University Medical Center, USA; Departments of Neurological Sciences, Rush University Medical Center, USA; Departments of Biochemistry, Rush University Medical Center, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
authors.forename: Rebecca
authors.initials: R
authors.lastname: Levin
authors.forename: Haroon
authors.initials: H
authors.lastname: Shah
authors.forename: Shaguna
authors.initials: S
authors.lastname: Mathur
authors.forename: Jennifer C
authors.initials: JC
authors.lastname: Darnell
authors.forename: Bichun
authors.initials: B
authors.lastname: Ouyang
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood*; D005260:Female; D005600:Fragile X Syndrome / Q000097:blood* / Q000453:epidemiology; D006801:Humans; D008297:Male; D012307:Risk Factors; D055815:Young Adult
chemical_list: D002784:Cholesterol
keywords: FMR1; FMRP; Fragile X syndrome; HDL; LDL; Lovastatin; cholesterol