Author Profile

Sharon Quary

Affiliation: Newborn Screening Unit, Georgia Department of Public Health, Atlanta, GA

Recent Posts

Clinic-Based Infant Screening for Duchenne Muscular Dystrophy: A Feasibility Study

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Purpose. The purpose of this study was to assess the desirability of Duchenne muscular dystrophy (DMD) screening, the effectiveness of the consent process, and the feasibility of conducting DMD screening in a pediatric office.

Methods. Infant males who attended a 12-month routine well-child visit at a participating pediatric clinic were screened for DMD. Parents and providers completed post-screening questionnaires to assess their experiences with and attitudes toward screening.

Results. A total of 264 male infants were screened for DMD. Approximately 78% of parents indicated support of voluntary DMD screening and 91% of providers were in favor of screening for DMD. About 75% of parents correctly answered three of five questions testing their knowledge of DMD screening.

Conclusion. DMD screening is feasible in a pediatric office when conducted as part of a research study. Infant screening for DMD eventually could be offered in pediatric health care provider offices as an optional public health service outside of newborn screening.