Result: Assessment of social emotional, cognitive and communicative development and adaptive behavior in children with spinal muscular atrophy 5q

Background. Spinal muscular atrophy 5q (SMA) is a severe genetic neuromuscular disorder, which is primarily manifested through musclar weakness. Previously, cognitive development in the natural course of SMA was considered normal. The introduction of etiopathogenetic therapy has altered the disease trajectory, led to new phenotypes, improved survival rates, and outlined the importance of studying the development of emotional, cognitive, and communicative domains, and adaptive behavior in SMA patients.Aim. To conduct a comprehensive assessment of emotional, cognitive, and adaptive domains, as well as speech development, in patients with genetically confirmed SMA, including cases, which were identified through newborn screening programs and were asymptomatic at the initiation of etiopathogenetic therapy, and to identify factors influencing neuropsychic development in SMA patients.Materials and methods. The study included 87 SMA patients receiving etiopathogenetic therapy, aged 0–12 years (median age at testing – 57.0 [37.0; 103.0] months). The Developmental Profile-3 (DP-3) instrument was used to assess neuropsychic development. Statistical analysis was performed using SPSS Statistics v.26.0 (IBM, USA).Results. Children who received therapy at the presymptomatic stage (6.9 % of the cohort) showed no deficits in any assessed developmental domains. These results significantly differed from those of SMA types 1, 2, and 3 in motor skills (padj Conclusion. SMA patients exhibit not only motor impairments but also adaptive and socialization deficits, as well as delays in communicative and cognitive development. A standardized approach to identifying these impairments should be developed, and developing tailored rehabilitation methods is important as well. Initiating etiopathogenetic therapy at the presymptomatic stage may prevent neuropsychiatric manifestations of SMA.