CURRENT MEDICAL AND SOCIAL PROBLEMS OF SPINAL MUSCULAR ATROPHY IN CHILDREN. LITERATURE REVIEW

Abstract

Introduction: Neuromuscular diseases are one of the most common groups of hereditary diseases of the nervous system characterized by genetic heterogeneity. In the background of neuromuscular diseases one of the leading places belongs to spinal muscular atrophy. Spinal muscular atrophy (SMA) is an autosomal recessive disease of motor neurons, occurring with a frequency of 1 in 11,000 newborns. SMA is the most common inherited cause of pediatric mortality. In recent decades, intensive efforts have elucidated the molecular mechanisms of the disease and developed new disease-modifying therapies. Aim. To analyze the existing medical and social problems in spinal muscular atrophy according to the current literature. Search strategy. The literature search was performed in the electronic databases Web of Science Core Collection, Scopus, PubMed, Google Scholar for the last 10 years: from 2013 to 2023. Inclusion criteria were systematic reviews, original articles. Exclusion criteria were articles of poor methodological quality, cases of duplication, missing or incomplete data in articles, clinical case reports, letters, editorials, and expert opinions. 287 articles were retrieved, of which 51 were selected for analysis. Results. The social aspects of the disease include the need for specialized care, family support, and integration of children with SMA into educational institutions. Most studies emphasize the need for comprehensive rehabilitation and psychosocial support programs, which should include not only medical care but also social adaptation, educational support, and counseling. The financial costs of treating and caring for children with SMA are a significant burden on families and health care systems. Ensuring the availability of expensive medicines such as nusinersen, zolgensma and risdiplam remains a major challenge for national health systems. In this context, government support and insurance programs are of particular importance. Conclusion. Thus, solving the medical and social problems associated with spinal muscular atrophy in children requires an integrated approach and interdisciplinary cooperation. Only coordinated efforts of physicians, social workers, educators, government agencies and nongovernmental organizations can provide children with SMA and their families with a decent quality of life and prospects for the future. It is necessary to continue scientific research on SMA, develop innovative treatments and improve social support systems to achieve these goals.