Fragile X syndrome. Molecular and clinical insights and treatment issues.
The fragile X syndrome is the most common inherited cause of mental retardation that is known. The prevalence of mental retardation from this syndrome ranges from 1 in 1,250 to 1 in 4,000 in the general population, although the prevalence of female carriers has been reported to be as high as 1 in 259. The discovery of the FMR1 gene mutation in 1991 has simplified diagnosis, enhanced our understanding of the spectrum of involvement in the fragile X syndrome, and stimulated research regarding the normal function of the FMR1 protein in brain development. Advances have also occurred in the treatment of the fragile X syndrome, and psychopharmacologic and educational interventions are reviewed here.
Hagerman
R J
RJ
Child Development Unit, Children's Hospital, Denver, CO 80218, USA.
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D005600:Fragile X Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D001523:Mental Disorders / Q000188:drug therapy / Q000453:epidemiology / Q000209:etiology*; D011619:Psychotropic Drugs / Q000627:therapeutic use
D011619:Psychotropic Drugs