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 registrybased 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.

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

“…Such a timely diagnosis holds the potential to assist parents in navigating the historically challenging diagnostic journey that families typically face when seeking a DMD diagnosis [ 31 , 32 ]. The diagnostic age differences between the younger and older siblings ranged from 5 years early to 3 years later, with the older sibling receiving a later diagnosis at an average age of 4.3 years, aligning with the previous literature [ 27 , 30 , 33 ].…”

“…Most parents found early diagnosis highly beneficial across multiple domains, including better school preparedness, earlier access to support services, increased options for clinical trial participation, more time to evaluate treatment options, absence of diagnostic odyssey, and easier access to medical assistance through state programs or Medicaid. These positive experiences align with the documented benefits of early diagnosis as evidenced in past studies and echo the sentiments expressed by families in previous research, underscoring their preference for early awareness of their children's diagnoses as newborns [12,27,30,34]. However, some parents identified increased time to worry as a predominant harm of early diagnosis, consistent with attitudes toward NBS found within the past literature indicating higher anxiety levels among mothers of children screened for DMD [35].…”

“…The recent addition of spinal muscular atrophy (SMA) to the RUSP in 2018 has set a precedent for neuromuscular disorders to be included in NBS panels. Expert DMD care physicians [ 36 ] and affected families prefer early diagnosis for prompt access to treatments that are most effective in the newborn stage [ 30 ]. Therapies for DMD tend to be more impactful before significant muscle degeneration occurs [ 24 , 25 , 26 ].…”

“…Responses were recorded as “Benefits”, “Harms”, “Neither a benefit nor a harm”, “Both a benefit and a harm”, or “Did not experience”. These experience objects were generated though the real-life experience of the parents and a review of prior research discussing parental experiences with the Duchenne diagnostic odyssey and perspectives on Duchenne NBS [ 30 ]. An “Other” open text field was also provided following the closed-ended questions for parents to express additional thoughts.…”

Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders

“…Despite these advances in therapeutic and screening technologies, the question remains whether the benefits of screening for DMD in the newborn period outweighs the potentials for harm and how this will impact existing high public confidence in NBS programs. However, there are limited studies which explore the perspectives of families directly affected by a DMD diagnosis in the era of genomic technologies, 14 coupled with a paucity of information on how NBS services for DMD should be delivered, and requirements for health system readiness. Thus, there is need for a contemporary evaluation of the perspectives on DMD NBS among key stakeholders including parents, as participants in the program, and healthcare professionals (HCPs) who play an integral role in shaping and delivering effective healthcare services.…”