Italian clinicians studied language skills in 36 children with type I spinal muscular atrophy (SMA), whether symptomatic (24/36) or not (12/36), and who had benefited from an innovative therapy:
- the 12 pre-symptomatic children were diagnosed as part of newborn screening,
- the 36 children had their communication skills, including language, assessed once or twice over time,
- from this point of view, children treated at a symptomatic stage performed much less well than their peers screened at a presymptomatic stage.
This work represents a further argument in favor of neonatal screening for SMA.
