Carrier testing in fragile X syndrome: Effect on self-concept

The purpose of the study was to explore self-concept in women at risk for i nheriting the fragile X mutation. Time 1 measures were obtained prior to ca rrier testing and Time 2 measures were collected approximately 5 months aft er learning carrier status. The sample consisted of 42 women from 17 famili es. Measures included the Tennessee Self-Concept Scale (TSCS), the fragile X Visual Analog Scale (VAS), and a structured interview. The TSCS provided a global measure of self-concept and the fragile X VAS and structured inter view provided a contextual measure of self related to carrier status, Resul ts indicated that there were no differences initially between carriers and noncarriers and no change from Time 1 to Time 2 on the TSCS, Analysis of th e Time 1 fragile X VAS means for the total sample found a reduction in posi tive feelings about self. Analysis of the Time 2 fragile X VAS found that n oncarriers reported improvement in feelings about self, with no change in f eelings about self found in the carriers, Responses from the structured int erview indicated that the feelings regarding self in the context of genetic testing are not related to global self-concept, but result from concerns r egarding the implications of a positive carrier test for themselves and the ir families. This information highlights areas related to carrier testing t hat warrant further investigation and may ultimately result in modification s to the genetic counseling. Am. J. Med. Genet. 92:336-342, 2000. (C) 2000 Wiley-Liss, Inc.