title: Importance of a specialty clinic for individuals with fragile X syndrome.
abstract: Advances in human genetics have identified a significant number of genetic disorders associated with intellectual disability. As a result, appropriate clinical management of these affected individuals and their family members have become critical in addressing medical needs to improve quality of life. We examine the importance of a Fragile X Clinic for individuals with fragile X syndrome (FXS) and their family members by conducting a retrospective chart review of 123 new patients with FXS evaluated at the Fragile X Clinic at Emory University. After the initial diagnosis of a proband with FXS with cascade testing, there were 345 family members identified with a mutation (70% with premutations; 30% with full mutations). In terms of the impact of the clinic visit, males had a substantial number of new diagnoses in all behavioral disorders (P < 0.001), with anxiety (62%) being the most common. For female probands, the most frequent diagnosis was also anxiety (87%). Prior to the clinic visit, very few patients were prescribed psychotropic medications. After the clinic visit, the most frequently prescribed psychotropic medications for males were stimulants (41%; P < 0.001) and SSRIs (40%; P < 0.001). For females, only stimulants (33%; P = 0.03) and SSRIs (44%; P = 0.008) were statistically significantly prescribed. Our results revealed that there is a gap in care to address the co-morbid behavioral issues, psychopharmacologic medication management, and genetic counseling needs regarding FXS. A multidisciplinary setting and approach, such as that offered by a Fragile X Clinic, is one method of treating the complex needs of patients with FXS. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Human Genetics, Emory University, Atlanta, Georgia.
authors.forename: Jeannie
authors.initials: J
authors.lastname: Visootsak
authors.affiliation: Department of Emergency Medicine, University of California, San Francisco, California.
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Kidd
authors.affiliation: Department of Human Genetics, Emory University, Atlanta, Georgia.
authors.forename: Tovi
authors.initials: T
authors.lastname: Anderson
authors.affiliation: Department of Human Genetics, Emory University, Atlanta, Georgia.
authors.forename: Julia L
authors.initials: JL
authors.lastname: Bassell
authors.affiliation: Department of Human Genetics, Emory University, Atlanta, Georgia.
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Sherman
authors.affiliation: Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois.
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Berry-Kravis
mesh_terms: D019468:Disease Management; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D011619:Psychotropic Drugs; D011788:Quality of Life
chemical_list: D011619:Psychotropic Drugs
keywords: clinical care; fragile X syndrome; genetic counseling