Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

Abstract

Introduction: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). Methods: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. Results: The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. Conclusions: There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Muscle Nerve 49: 822–828, 2014

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

“…However, renewed interest in newborn screening has been building as a result of support among stakeholders and because emerging DMD therapies might prove to be most effective if they are initiated before symptom onset. 30,31 …”

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

“…11,31,32 The idea of newborn screening has a high level of support among parents of children who have SMA and among expecting parents. 33,34 A long delay to diagnosis has been noted in other pediatric diseases as well. For example, a median delay of 1.4 months to 12.6 years from symptom onset to diagnosis has been noted in patients with Pompe disease, 35 whereas a delay of 6 months to more than 4 years has been documented in patients with Duchenne muscular dystrophy.…”

Public Perceptions of the Benefits and Risks of Newborn Screening

“…Evidence suggests that infant screening is valued by invested stakeholders (parents of NBSidentified infants, clinicians) [8][9][10][12][13][14][15][16] and members of the lay public. 1,17 Yet, little is known about how the different benefits of screening are independently valued, and thus what types of benefits give warrant to NBS. Those who call for an expanded definition of benefit suggest that informational benefits may suffice, 18,19 whereas others emphasize a hierarchy of benefits, with screening justified only by primary benefits, even though secondary benefits may be important.…”