“No SMA can hold”: Nursing care for children with spinal muscular atrophy. Descriptive analysis of two case studies

Background Spinal muscular atrophy (SMA) is one of the most common genetic causes of death in children affecting about one in 10,000 live births, while its prevalence is about 1–2 per 100,000 (live births). Recently, the European Commission (EU) approved a novel gene therapy based on the onasemnogen abeparvovec (Zolgensma) for the treatment of patients with SMA. In addition to drug treatment, it is essential that children with SMA apply self-care methods to maintain their health, monitor their weight and food intake, and use appropriate remedies. Self-care and co-production of health care services are crucial in the modern ecosystem, as they can improve survival and prevent hospitalizations. The aim of this work is to support healthcare professionals who may have to deal with patients affected by this disease. Methods The article uses two case studies of children with spinal muscular atrophy through the creation of a multi-professional research group composed of health professionals who provide direct care to SMA children. The collection and analysis of the data were carried out by involving different figures who interact with SMA children. Specifically, physicians, nurses, parents, physical therapists, social workers, and teachers were individually interviewed. Results The study aims to provide suggestions on assessing child self-care, believing it to be a valuable method to gather information on how the child performs daily activities and how much the surrounding environment affects self-care. This paper highlights how self-management behaviors depend on four basic aspects: the person (individual, cognitive, and social perceptions), the patient's family (level of knowledge of pathology, involvement in the management and quality of relationship with the patient), the community (relationships with external social contexts, such as school and other organizations), and the healthcare system (availability of resources and the degree of evolution of healthcare). Conclusions The experience conducted may be helpful to other health institutions to make the approach to children with SMA as most effective as possible, creating internal workgroups and collaboration with external experts on the subject. Moreover, it provides valuable information on caring for families with children with SMA