Asheley Supik
Capstone Project Committee: Nancy Callanan, MS, CGC, Brenda Finucane, MS, CGC, Sat Gupta, PhD (Statistical Consultant), Pamela Reitnauer, MD, PhD
The behavioral and cognitive phenotypes of Fragile X syndrome have been well characterized. However, there is little information about genetic counselors’ knowledge of the details of these phenotypes, the implications that the phenotypes have for affected families, and if this information is addressed by genetic counselors with families of patients who receive a diagnosis of Fragile X syndrome. This study surveyed pediatric genetic counselors to assess their knowledge of the interventions implicated by the behavioral and cognitive phenotypes of Fragile X syndrome and the frequency with which they discuss this information with families receiving a diagnosis of Fragile X syndrome. This study also assessed genetic counselors perceptions of the relevance and utility of this information and barriers to addressing this information with families. Many of the participants indicated that they discussed the information about the interventions indicated by the cognitive and behavioral features of Fragile X syndrome with parents of affected children, and participants generally perceived this information to be relevant to the practice of genetic counseling. However, participants overall scored low on the knowledge assessment. These results indicate a need for educational resources for genetic counselors and patient education materials for parents and caregivers of children with Fragile X syndrome.