Since researchers identified the gene mutation responsible for achondroplasia in 1994, a prenatal test for acholdroplasia has become available. Before it is widely available, it is essential that we learn more about the lives of affected persons and their families as well as the education and counseling needs of these communities. After conducting a pilot telephone interview survey of 15 individuals, we developed a new survey instrument for a large scale quantitative cross-sectional study of the communities of little people and their parents. The tool assesses a number of psychological parameters as well as reproductive and family plans and attitudes toward genetic testing and abortion. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members. In the past year, we have received approval for the study from the Medical Advisory Board of the Little People of America, and initiated a contract through Westat for distribution of the survey and data analysis. Surveys will be sent to LPA members and patients in skeletal dysplasia clinics.
