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

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, respectively. One-third of families (30%) indicated that they would prefer to receive a diagnosis in the newborn period irrespective of treatment options available, and nearly all of the remaining families (93%) indicated that they would want to learn about a diagnosis if there were treatments that worked well during the newborn period. All families (100%) indicated that a diagnosis in the newborn period would impact life decisions. We identified three overarching themes, which described the stages of the diagnostic journey, including having concerns about the child, seeking answers, and receiving the diagnosis. NBS can facilitate improved health outcomes through early access to care, and inform families on major health and nonhealth decisions. The preferences and experiences of families and other stakeholders should be considered when determining the potential value and benefit of expanding NBS programs.