German clinicians report on their experience in the management of premature newborns diagnosed during newborn screening for SMN1-related proximal spinal muscular atrophy (SMA):
- there are as yet no international recommendations concerning this sub-population of children (born by definition before 38 weeks’ gestation), whether symptomatic or pre-symptomatic,
- the files of twelve premature babies screened between 2021 and 2024 and carrying a maximum of 3 copies of the SMN2 gene were used for the study,
- all were asymptomatic at birth, but the neurological condition of one of them deteriorated at five weeks of age,
- all benefited from an innovative therapy, most often gene therapy (Zolgensma).
There seems to be a consensus among German practitioners to wait until term before starting to prescribe innovative therapy for these newborns.
