The Pediatric to Adult Transition of Patients with Neuromuscular Disease

Consideration of the best practices for transition from pediatric to adult neuromuscular health is essential given the growing number of individuals with neuromuscular disease surviving into adulthood due to advances in medical care (Menon et al., Neuromuscul Disord 32(3):206–212, 2022), rehabilitation, and pulmonary ventilation techniques. For example, Duchenne muscular dystrophy had a mean age of death of 14.4 years in the 1960s which increased to 25.3 years by the 1990s with median life expectancy now reaching 30s (Cheng et al., Paediatr Respir Rev 33:3–8, 2020). Despite these advances, there is limited literature reporting on the medical transition of neuromuscular patients from pediatric to adult care, and these individuals struggle to receive coordinated care and rehabilitation (Sommelet, Handb Clin Neurol 111:101–105, 2013). Although the recent consensus on standards of care in spinal muscular atrophy acknowledges that transition is challenging for many patients with milder disease and requires further attention (Mercuri et al., Neuromuscul Disord 28(2):103–115, 2018), others do not include any discussion of the pediatric to adult healthcare transition (Bushby et al., Lancet Neurol 9(1):77–93, 2010). In this chapter, we will review key concepts related to the transition process and notable differences between pediatric and adult models of care, highlight the patient and family perspective and implications of transition care gaps for neuromuscular patients, review the facilitators and barriers to transition and criteria for success, and finally discuss potential future directions.