Newborn Screening for SMA – Burden and Quality of Life of Parents One Year on

Abstract Background : The NBS projects started in February 2018 in Germany. The aim of our study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA) detected by newborn screening (NBS). Follow-up a year on after diagnosis included 3 parent-related questionnaires to evaluate the psychosocial burden, quality of life (QoL)/satisfaction and work productivity and activity impairment of families with a positive result after NBS. Results : 42/44 families were included. Statistical analysis revealed a significant difference between families with treated vs. untreated children as to social burden (p=0.016) and personal strain/worries about the future (p=0.02), whereas the evaluation of the QoL showed no significant differences between treated vs. untreated children. Fathers of treated children felt more negative effects regarding their productivities at work (p=0.005) and more negative effects on daily activities (p=0.022) in the last seven days than fathers of untreated children. Conclusion: NBS for SMA has a psychosocial impact on families due to medical treatment and triggers worries about the future, emphasizing the need for comprehensive multidisciplinary care.