Longitudinal study of the carrier testing process for fragile X syndrome: Perceptions and coping

This paper reports the results of a longitudinal study of women at-risk to inherit the fragile X mutation. It addresses 1) how upsetting the women per ceived their carrier information to be, 2) how serious a problem they perce ive fragile X syndrome to be, and 3) descriptions of feelings about the car rier testing process. The study sample consisted of 42 women (20 carriers a nd 22 noncarriers). There were two measurement times (just prior to carrier testing and after learning actual carrier status). The measures used were a Fragile X Visual Analog Scale and a structured interview. At time 1, bein g at-risk was reported to be upsetting and fragile X syndrome was perceived to be a serious problem. For the women found to be carriers there was no c hange from time 1 to time 2 on any of the items. Significant change occurre d in the non-carriers. They were significantly less upset at time 2 after r eceiving the results of their carrier test than at time 1. They also percei ved fragile X syndrome to be a more serious problem than they did at time 1 and a more serious problem than the carriers at time 2, Themes found inclu ded concerns that carrier status for fragile X syndrome presented a barrier for having healthy biological children and concern for children's and gran dchildren's adaptation to their own carrier status. Coping behaviors were a ctivated to manage the emotions related to these concerns. The coping behav iors identified were minimization, acceptance of the possibility of being a carrier, a sense of being able to deal with the outcome of the carrier tes t, positive comparison, problem solving, and positive interpretation. Am. J . Med. Gen. 98:37-45, 2001. (C) 2001 Wiley-Liss, Inc.