Spinal muscular atrophy – the needs of children undergoing pharma - cological treatment and their families as part of the comprehensive care system in poland

Introduction There is no coordinated care system for patients with rare diseases in Poland. Aim The aim of the study was to define the most important aspects of medical, social and professional care under the project titled “Education in a new reality: a comprehensive and long-term model of physiotherapeutic treatment in spinal muscular atrophy” developed by Stowarzyszenie Lwie Serca (Lion Hearts Association). Material and methods The study included 27 children with SMA1 and SMA2 treated pharmacologically. Motor development was checked using the CHOP INTEND and HFMSE scales; the body posture was measured with the Bunnell scoliometer and the Rippstein plurimeter, and the range of motion in the joints of the upper and lower limbs was measured. Respiratory and neurologopedic problems were assessed. The social, professional and financial situation of the families was analyzed. Psychological data was collected based on an interview with parents. Results Nineteen children were diagnosed with type 1 SMA and 8 with type 2. On the CHOP INTEND scale, the mean number of points was 30.8; in HFMSE 21.7. Disorders in the shape of the chest, spine, hip joints and reduced range of motion were found. 18 children (66.7%) used a ventilator in the invasive and non-invasive mode. Most children had symptoms of dysarthria and stomatognathic disorders. The main psychological problems among parents were severe stress, low mood, and a sense of loneliness. Conclusion In Poland, it is necessary to introduce a system of comprehensive, coordinated care for children with spinal muscular atrophy. Keywords: spinal muscular atrophy, body posture, developmental scales