Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.

ABSTRACT: Duchenne muscular dystrophy is the most common form of muscular dystrophy diagnosed in childhood but is not routinely screened for prenatally or at birth in the United States. We sought to characterize the diagnostic experiences of families and describe their preferences for newborn screening (NBS). We conducted a registry-based survey of families with Duchenne and Becker muscular dystrophy that included open- and closed-ended questions regarding the journey to a diagnosis, preferences for when to learn of a diagnosis, and how knowledge of a diagnosis would impact life decisions. Open-ended responses were analyzed thematically, and closed-ended responses were analyzed descriptively. Sixty-five families completed the survey. The average ages of first concern and diagnosis were 2 and 4 years

SUBMITTER: Crossnohere NL 

PROVIDER: S-EPMC9804254 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature