Italian clinicians undertook a large neuropsychological and neurobehavioural study in children with SMN1-related proximal spinal muscular atrophy (SMA) type 1 who had received innovative therapy at a symptomatic (25) or presymptomatic (6) stage:
- the cohort studied included children aged 2 to 10 years,
- they were assessed by a multidisciplinary team using several criteria,
- parents had to complete several questionnaires,
- the authors found autistic traits in a higher number of children than in the general population,
- but they found fewer neurobehavioural disorders in this cohort compared to other series in the literature.
However, given the small size of each group, it is not yet possible to determine whether these disorders remain less common in presymptomatic children.
