Assessment of Fine Motor Abilities Among Children with Spinal Muscular Atrophy Treated with Nusinersen Using a New...

Background/Objectives: Spinal Muscular Atrophy (SMA) is a genetic neurodegenerative disease characterized by severe muscle weakness and atrophy. Advances in disease-modifying therapies have dramatically changed the natural history of SMA and the outcome measures that are used to assess the clinical response to therapy. Standard assessment methods for SMA are limited in their ability to detect minor changes in fine motor abilities and in patients' daily functions. The aim of this pilot study was to evaluate the feasibility and preliminary use of the Touchscreen-Assessment Tool (TATOO) alongside standardized tools to detect changes in upper extremity motor function among individuals with SMA receiving nusinersen therapy. Methods: Thirteen individuals with genetically-confirmed SMA, aged 6-23 years, eight with SMA type 2, and five with SMA type 3, participated. The patients continued the maintenance dosing of nusinersen during the study period. They were evaluated at the onset of the study, then twice more at intervals at least six months apart. Upper extremity functional assessments were performed via the TATOO and standardized tools: the Hand Grip Dynamometer (HGD), Pinch Dynamometer (PD), Revised Upper Limb Module (RULM), and Nine-Hole Peg Test (NHPT). Results: Significant changes in fine motor function were detected using the TATOO together with other standardized tools. Participants demonstrated notable improvements in hand grip strength and fine motor performance, as measured by the NHPT. The RULM results were not statistically significant for the total study group, particularly in ambulatory patients with SMA type 3. TATOO provided detailed metrics, and revealed enhancements in accuracy and speed across various tasks. However, given the small sample size, the lack of a control group, and the lack of baseline assessment before receiving therapy, these findings should be considered preliminary and exploratory. Conclusions: The findings suggest that the TATOO, alongside traditional assessment tools, offers a sensitive measure of fine motor function changes in patients with SMA. This study highlights the potential of touchscreen-based assessments to address gaps in current outcome measures and emphasizes the need for larger, multicenter studies that will include pre-treatment, baseline, and control data.