| Affiliation: | (1) Duke University Medical Center, Durham, NC, USA;(2) National Fragile X Foundation, San Francisco, CA, USA;(3) Elwyn, Inc, Elwyn, PA, USA;(4) Genzyme Genetics, Phoenix, AZ, USA;(5) Department of Pediatrics, M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, CA, USA;(6) Department of Human Genetics, Emory University, Atlanta, GA, USA;(7) Intramural Research Program, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA;(8) Departments of Pediatrics, Neurology, Biochemistry, RUSH University Medical Center, Chicago, IL, USA;(9) Department of Psychiatry and Behavioral Sciences, M.I.N.D. Institute, University of California, Davis Medical Center, Sacramento, CA, USA;(10) National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA |
| Abstract: | The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues. |
