Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening.

OBJECTIVE

To identify factors parents considered in treatment decision making for children diagnosed with spinal muscular atrophy on newborn screening.

METHODS

Participants were recruited through the University of Rochester or through flyers and Cure SMA social media outreach and asked to complete a telephone or online survey. Data were analyzed through mixed methods using descriptive statistics and theme identification in narrative responses.

RESULTS

Eighteen parents with children diagnosed with spinal muscular atrophy on newborn screening participated. Thirteen of 18 chose onasemnogene abeparvovec, 2 of 18 chose risdiplam, 1 of 18 chose nusinersen, and 2 of 18 did not receive treatment. The most commonly reported factors impacting treatment choice included treatment frequency and administration method. Seventeen (94.4%) parents felt that inclusion of spinal muscular atrophy on newborn screening was positive because it could allow for better outcomes with earlier treatment.

CONCLUSION

Treatment frequency and administration method were the most important factors for parents in determining spinal muscular atrophy treatment. Parents felt positively about newborn screening due to opportunity for earlier treatment.