OBJECTIVE: We aimed to identify factors parents consider important in the treatment decision-making process for children diagnosed with spinal muscular atrophy (SMA) on newborn screening. We also explored parent perspectives on the inclusion of SMA on newborn screening.
BACKGROUND: In 2018 the US federal government recommended the addition of SMA to state newborn screening. Concurrently, the FDA has approved three disease-modifying SMA therapies. With these advances in treatment, parents who have children diagnosed via newborn screening are now faced with the challenge of treatment choice. Understanding how parents make these decisions has been limited.
METHODS: Participants were recruited directly through the University of Rochester Neuromuscular Clinic or through flyers or Cure SMA social media posts and email newsletters to complete a telephone or online REDCap survey. Survey responses were collected from July through October 2020. Data were analyzed through mixed methods using descriptive statistics and theme identification in narrative responses.
RESULTS: 18 parents with children diagnosed with SMA on newborn screening participated in the study. 13/18 chose onasemnogene abeparvovec, 2/18 chose risdiplam, 1/18 chose nusinersen, and 2/18 did not receive treatment. The most commonly reported factors impacting treatment choice included frequency of treatment and method of treatment delivery. 83.3% felt that physician counseling impacted their decision-making. Parents also felt that supplemental information through video and written resources would have been moderately beneficial. 94.4 % of parents felt that inclusion of SMA on newborn screening was positive because it could allow for better outcomes with earlier treatment.
CONCLUSIONS: Treatment frequency and method of treatment delivery were important factors for parents in determining SMA treatment. Overall, parents felt positively about the inclusion of SMA on newborn screening due to the opportunity for earlier treatment and improved outcomes. Potential areas that can be targeted to improve parental support include providing supplemental written or video resources.