The experts in charge of setting up newborn screening for spinal muscular atrophy (SMA) in Germany have warned of a number of cases of developmental disorders in children despite very early treatment with innovative therapies :
- 47 children from 49 families were screened between January 2018 and December 2020 for spinal muscular atrophy (SMA) and treated or not treated accordingly,
- among these, 17 had two copies of the SMN2 gene, 11 had three copies and 12 had four or more copies,
- patients were assessed for motor, language and cognitive performance at an average age of 29 months,
- 14 of these children had below-average cognitive development scores, including a large majority of those with two copies of the SMN2 gene (10/14).
Although limited in scope due to the young age of the children tested, these results highlight the early onset of certain disorders in SMA, despite very early treatment, and the need for long-term developmental monitoring of these patients.
