Beyond motor function: cognitive and language impairments in spinal muscular atrophy children treated with modern therapies

Recent disease-modifying treatments have markedly improved the motor prognosis of spinal muscular atrophy, yet the neurocognitive and language outcomes of treated children remain insufficiently characterized. This monocentric observational study included sixteen children with genetically confirmed Spinal muscular atrophy types I-III (10 males; age 2.6-15.4 years; 5 with type I, 5 type II, and 6 type III) treated with at least one disease-modifying therapy and followed at our center. Participants underwent standardized assessments of intellectual abilities, executive functions, social cognition, memory, and language, complemented by parent questionnaires. Data were analyzed descriptively given the small and heterogeneous sample. Intellectual functioning was preserved (mean IQ = 102 ± 4), with no cases of intellectual disability, although 15% showed executive dysfunctions (e.g., inhibition, cognitive flexibility) not perceived by parents. Oral language disorders were found in 73% of individuals, affecting phonology, lexicon, and morphosyntax, and were more frequent in children with more severe motor phenotypes and fewer SMN2 copies. Written language disorders were identified in 29% of individuals, even without major motor impairment. Routine neuropsychological and speech-language assessments should be integrated into multidisciplinary care to enable earlier detection, targeted interventions, and improved long-term outcomes.