Symptoms of schizotypal personality disorder in fragile X women

Objective: The frequency of DSM III-R symptoms of schizotypal personality disorder as it relates to CGG amplification and to the cytogenetic expression of fragile X syndrome was explored. Method: Four groups of women were examined: 30 control mothers of children with developmental problems, 17 control women who grew up in fragile X families, 28 women cytogenetically negative but DNA positive for fragile X with a premutation, and 31 women who were DNA positive with an expanded mutation, most of whom were cytogenetically positive. All women were assessed using the Structured Interview for Schizotypy. Results: Eight of the nine women who received the DSM III-R schizotypal personality disorder diagnosis came from the two fragile X groups: four from the premutation group and four from the expanded mutation group. Twenty percent of fragile X carriers who received the gene from their mother, but none who received the gene from their father demonstrated schizotypal personality disorder. Conclusions: Women who carry the premutation and women with the full mutation may both show schizotypal features, although less commonly than previously reported.