Fragile X syndrome: What is the impact of diagnosis on families?

This study is one preliminary attempt to understand the perceived medical and psychosocial impact of the genetic diagnosis of fragile X syndrome. Initially designed with the aid of a pilot study mailed to 20 randomly selected fragile X syndrome families (with affected male and female children), the survey was mailed to approximately 290 families seen and evaluated in the Child Development Unit at Denver Children's Hospital. The survey was a questionnaire consisting of 24 multiple choice questions. Questions asked related to the families (parent's) perceptions of the efficacy of medical and other therapeutic interventions provided for children after they had been diagnosed with fragile X syndrome. Other questions evaluated the psychosocial significance of fragile X syndrome as a diagnostic 'reason' for the mental retardation and behavioral problems manifested by these children. Finally, families were asked about the practical/financial impact of the genetic diagnosis with respect to reproductive decisions (genetic counseling) and health care access (genetic health insurance discrimination). A response rate of 52% was obtained from families included in the study population. In general, 91% of the families who responded found the diagnosis of fragile X syndrome to be beneficial. Diagnosis proved generally helpful by providing families with an understanding of the causes of their children's behavioral and intellectual problems. Also, parents perceived both medical and nonmedical therapies to be helpful for treating the difficulties their children experience. Moreover, the fragile X diagnosis gave parents access to genetic counseling services, while relieving a psychosocial burden associated with bearing affected children. However, diagnosis has lead to a 31.5% frequency of perceived genetic discrimination. Although we conclude that the diagnosis of fragile X syndrome is helpful to families, we acknowledge that specific problems are associated with receiving this genetic diagnosis, and that further research is necessary to reveal ways in which these families can be served best by the medical community. Finally, we would advocate legal protection from genetic discrimination for all families receiving a genetic diagnosis.