Autism spectrum disorders in children with SMA type 1 are not that rare

Brazilian clinicians sought to determine the prevalence of autism spectrum disorders (ASD) among children with the most severe form of SMA type 1 who had survived thanks to the use of an innovative therapy:

  • 13 children meeting these criteria were included in an observational study comprising age-adjusted cognitive and behavioural tests;
  • they were on average 4 years old (range 2–8 years) and had received innovative therapy at varying ages;
  • 5 out of the 13 exhibited traits in the tests that met the criteria defined by the international classification (DSM-5-TR) for diagnosing autism spectrum disorders.

The authors highlight the high prevalence of ASD in their cohort, the multifactorial nature of the observed phenomenon, and its possible under-detection due to a lack of appropriate tools.

 

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series. Rezende LV, Ortega AB, Do Valle DA et al. Dev Med Child Neurol. 2026 Mar 18.