Symptoms of schizotypal personality disorder in fragile X women

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.

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.

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.

Women who carry the premutation and women with the full mutation may both show schizotypal features, although less commonly than previously reported.