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Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening
Stella Deng1, Bo Hoon Lee1, Emma Ciafaloni1
1Department of Neurology, University of Rochester, Rochester, NY, USA.
Insights
Parents prioritize treatment frequency and administration method when choosing spinal muscular atrophy (SMA) therapies for newborns. Early diagnosis via newborn screening is viewed positively for enabling timely intervention and improved outcomes.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Spinal muscular atrophy (SMA) is a rare genetic disorder affecting motor neurons.
- Newborn screening (NBS) for SMA allows for early diagnosis and intervention.
- Treatment decisions for pediatric SMA are complex and influenced by various factors.
Purpose of the Study:
- To identify key factors parents consider when making treatment decisions for children diagnosed with SMA via NBS.
- To understand parental perspectives on the benefits of SMA NBS.
Main Methods:
- A mixed-methods approach was used, combining descriptive statistics and thematic analysis.
- Data were collected through telephone or online surveys from 18 parents of children with SMA diagnosed through NBS.
- Participants were recruited via university, flyers, and social media outreach.
Main Results:
- Thirteen of 18 parents selected onasemnogene abeparvovec; other treatments chosen were risdiplam (2/18) and nusinersen (1/18); 2/18 did not receive treatment.
- Treatment frequency and administration method were the most significant factors influencing parental treatment choices.
- 94.4% of parents believed SMA inclusion on NBS positively impacts outcomes due to earlier treatment opportunities.
Conclusions:
- Treatment frequency and administration method are paramount in parental decision-making for SMA therapies.
- Newborn screening for SMA is perceived favorably by parents for facilitating earlier, potentially better, treatment outcomes.
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.
