title: Fragile X syndrome: an update and review for the primary pediatrician.
abstract: Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. Since the initial identification of the responsible gene more than a decade ago, substantial progress has been made in both the clinical aspects of the disorder and its mechanistic basis; hence, it is important for primary care physicians to be familiar with these advances when providing anticipatory guidance. Timely diagnosis allows children to receive early intervention services and families to receive genetic counseling. Here the current state of knowledge is reviewed and a framework is provided for early recognition and diagnosis, along with counseling and treatment implications for the children and family members.
authors.affiliation: Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
authors.forename: Jeannie
authors.initials: J
authors.lastname: Visootsak
authors.forename: Stephen T
authors.initials: ST
authors.lastname: Warren
authors.forename: Aimee
authors.initials: A
authors.lastname: Anido
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy*; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D010372:Pediatrics / Q000379:methods*; D010375:Pedigree; D011320:Primary Health Care / Q000379:methods; D011379:Prognosis; D012657:Self-Help Groups; D012720:Severity of Illness Index; D012729:Sex Chromosome Aberrations; D012737:Sex Factors