Functional and structural analysis of SITTER patients with spinal muscular atrophy

• Published in: Scientific reports Vol. 15; no. 1; pp. 10810 - 10
• Main Authors: Bieniaszewska, Aleksandra, Sobieska, Magdalena, Gajewska, Ewa
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 28.03.2025; Nature Publishing Group; Nature Portfolio
• Subjects: 692/308; 692/617; 692/699; Adolescent; Adult; Atrophy; Child; Child, Preschool; Clinical significance; Disease; FDA approval; Female; Functional assessment; Hip; Hip Joint - physiopathology; Humanities and Social Sciences; Humans; Joint contractures; Knee Joint - physiopathology; Male; multidisciplinary; Muscular Atrophy, Spinal - drug therapy; Muscular Atrophy, Spinal - pathology; Muscular Atrophy, Spinal - physiopathology; Performance evaluation; Questionnaires; Science; Science (multidisciplinary); Scoliosis; Sitter patients; Spinal muscular atrophy; Structural analysis; Structural assessment; Structure-function relationships; Young Adult; Functional assessment; Structural assessment; Sitter patients; Joint contractures; Spinal muscular atrophy
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-025-95328-9

In recent years, three disease-modifying therapies have been approved and fully reimbursed in Poland since September 2023. Those therapies have significantly improved the disease outcome but led to new uncertainties. Doubts mainly concern older patients who have already developed complications occurring because of a lack of previous access to therapy. Joint contractures or trunk deformation are the most noticeable changes that should be examined. This work examines functional and structural changes in SMA sitter patients between the ages of 5 and 20 years during the 12-month follow-up. Twenty-one SMA patients were divided depending on the drug program in which they participated. The study protocol included functional and structural assessments. Most of the subjects experienced an improvement in cervical rotation parameter and increased contracture of the hip and knee joints. There are differences between the patients’ body sides. Neither the contractures nor their gradual decrease or increase occur symmetrically. We conclude that all patients under study improved their motor function after 12 months. In both groups, more significant improvement occurred in the assessment of the RULM scale than in the HFMSE scale. Improvement in function was not dependent on improvement in structural parameters.