NEUROBEHAVIORAL EFFECTS OF THE FRAGILE-X PREMUTATION IN ADULT WOMEN -A CONTROLLED-STUDY

Although previous studies have suggested that the fragile X premutatio n (fra [X] pM) does not cause deleterious effects, methodological cons traints have prevented more definitive conclusions from being reached. In this report, we describe the neuropsychiatric and cognitive-neurop sychological status of 34 adult women with the fra (X) pM, as compared with a well-matched control group of 41 mothers of fra (X)-negative c hildren with developmental disability. The results indicate that there are no meaningful differences between adult women with the fra (X) pM and control subjects with respect to cognitive abilities or profile, neuropsychological function, psychiatric diagnoses or symptoms, and se lf-rated personality profile. No measure for either group showed evide nce of functioning outside the normal range except for a high lifetime prevalence of major depression in both groups. Additional exploratory analyses within the fra (X) group showed no significant effect of eit her the size of the fra (X) insert or X chromosome inactivation patter n in leukocytes, on any measure of neurobehavioral function. These fin dings provide additional information to professionals providing geneti c counseling to, and assessment of, fra (X) families.