Few swallowing disorders in children with SMA treated at a presymptomatic phase

A consortium of clinicians from the United States, New Zealand and Brazil reports the results of a study aimed at investigating bulbar function in infants with type I proximal spinal muscular atrophy, whether symptomatic or not:

  • 69 infants under twelve months of age were included in this retrospective study,
  • 17 of whom had received innovative therapy while still asymptomatic,
  • the BabyVFSSImP and Swallow Tail were the tools used for functional assessment,
  • the other 52 infants began treatment after the onset of clinical symptoms,
  • children treated at a presymptomatic stage almost never developed significant swallowing disorders, unlike those treated at a symptomatic stage.

This study is the first of its kind and indirectly confirms the usefulness of early detection and treatment of SMA from birth.

 

Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration. McGrattan KE, Mohr AH, Miles A et al. Orphanet J Rare Dis. 2025 Oct.