Rehabilitation in children with spinal muscular atrophy
Authors: Katikova O. Yu. 
Published: September 2024

Background. Spinal muscular atrophy (SMA) is a severe neuromuscular disease characterized by progressive weakness of the proximal muscles and the risk of paralysis. Most patients with SMA are children. The habilitation and rehabilitation of SMA children require a multidisciplinary approach with the formation of a team of specialists and continuous monitoring of a child’s health status.

Objective: to present the methods currently proposed by the world scientific community and practical healthcare for monitoring the clinical condition and measures for rehabilitation of children with types 1–3 SMA, following which would allow them to achieve the highest possible level of independent life and mobility, as well as prevent or delay development of complications.

Material and methods. The search for primary sources was carried out in electronic databases Cochrane Library, Clinical Еvidence, Google Scholar, PubMed/MEDLINE as well as in The State Register of Medicines of the Ministry of Health of the Russian Federation, the ConsultantPlus legal reference system, Google and Yandex services. Keywords and their combinations in Russian and English were used, including abbreviations: “spinal muscular atrophy”, “SMA in children”, “neuromuscular diseases”, “neuromuscular degeneration”, “SMA habilitation”, “SMA rehabilitation”, “SMA physiotherapy management”, “SMA nutrition guidelines”, “SMA exercise”, “SMA physical therapy”, “SMA contractures”, “SMA scoliosis”, “SMA consensus”. The principle of forming the review was a comprehensive presentation of methods for habilitation and rehabilitation of SMA children; therefore, materials from medical practices, social, psychological, legal and medical expert management of such patients were selected. Materials published over the past 10 years and earlier works of significant scientific interest were analyzed. Initially, 327 literature sources were found, including reviews, meta-analyses, clinical trial results, expert advice materials, clinical guidelines and recommendations of scientific communities on SMA in children. After removing duplicates and checking the eligibility according to inclusion and non-inclusion criteria, 100 scientific papers were included in the review.

Results. A rehabilitation team of specialists involved in the management of pediatric patients with SMA was presented. Methods of medical rehabilitation were considered, including breathing control, exercise and stretching, physical therapy, nutritional management, orthotics and orthopedics, symptomatic pharmacotherapy, technical mobility, technological and ergometric management, zootherapy, and spinal and joint surgery. Issues of emotional, psychological and behavioral, social, educational (including genetic counseling) family support were covered. Consensus statements of leading SMA opinion leaders, clinical recommendations, and practices of scientific communities were reviewed.

Conclusion. Various treatment methods for types 1–3 SMA in children are considered in scientific literatire, taking into account a multidisciplinary approach and monitoring by a professional team consisting of specialists from different fields of medicine. In addition to issues of traditional therapy, new methods of combined treatment of the disease are considered (traditional management + SMA-modifying therapy), as well as issues of social, psychological, legal and medical expert support. Patients with SMA require a structured, comprehensive rehabilitation program that should be developed individually.