Description) The long term objectives of this project are to determine if women with the fragile X premutation have cognitive problems, especially mathematics difficulties, mental health difficulties, or physical deficiencies that can be elucidated by primary care providers on well-known standardized measures. The investigators are particularly interested in the performance of women who carry the high premutation versus those who carry the low premutation. Twenty women with low fragile X premutations (50 to 100 CGG repeats) and 20 women with high premutations (greater than 100 to 200 CGG repeats) will be included in this study to assess findings along the CGG repeat continuum. Twenty unaffected women, who have relatives with fragile X syndrome or other chromosomal disorders, will serve as controls. All subjects will complete the Woodcock - Johnson III Tests of Achievement, the Wide Range Achievement Test - Revision 3, and the Wechsler Abbreviated Scale of Intelligence. Behavioral measures will include an ADHD rating scale and measures of anxiety, attention, hyperactivity, and depression. Some physical characteristics such as ear length and width will be obtained as well as a menstrual history. The Fragile X Questionnaire, designed for this study to ascertain women's basic impressions of their past and current functioning, will also be administered. Half of the controls will be unaffected mothers and female relatives of individuals with the fragile X premutation. The remaining controls will be mothers and sisters of individuals with other chromosomal abnormalities. If this study supports the hypothesis that a substantial number of women with the fragile X premutation have learning, emotional, and/or abnormal physical characteristics, this will help confirm that the FMR1 gene in the premutation state may have abnormal consequences that are important and can be identified by clinicians. In the future, larger studies will be planned to correlate these findings with other markers such as FMR1 protein and messenger RNA.
| Lachiewicz, Ave; Dawson, D; Spiridigliozzi, G et al. (2010) Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample. J Intellect Disabil Res 54:597-610 |
