Transition to adulthood in Duchenne Muscular Dystrophy: a systematic review with narrative synthesis on health systems, policies, and the role of health care providers.

BACKGROUND: For youth living with neurodisabilities and rare conditions, transitioning from pediatric to adult care results in significant loss of services and supports. This article examines transition-related health systems, policies and provider roles in the context of Duchenne muscular dystrophy (DMD). DMD is a multi-systemic X-linked disorder mainly characterized by progressive muscle degeneration, with about 30% of patients presenting with neurodevelopmental comorbidities. Due to advances in respiratory and cardiac care, life expectancy has increased significantly, creating a new population of adults living with DMD. This demographic shift has exposed critical gaps in the transition from pediatric to adult health care. To date, there is no systematic review covering existing transition policies and programs. This article utilizes integrated care and continuity of care frameworks to examine transition-related health systems, policies, and provider roles.

METHODS: We conducted a PRISMA-compliant systematic review searching OVID Medline, Embase, PsycINFO, CINAHL, Web of Science, and SCOPUS from January 1, 2000, to August 31, 2025. Studies were included if they reported on health systems, programs, policies or health care providers' roles in DMD. For synthesizing evidence, we utilized Popay's Narrative Synthesis framework to analyze health systems, policies, and provider roles across included studies, allowing for an aggregation of a body of heterogenous data (quantitative, qualitative and mixed-methods). This methodological approach ensured that the review moved beyond a simple aggregation of findings to generate new insights into the structural gaps.

RESULTS: 42 studies met the inclusion criteria. The programs described in these studies varied from residential life-skills training to respiratory-focused transition protocols. A significant disconnect was identified between international care guidelines and implementation; most initiatives are project-based rather than policy-driven. While neurology is central in pediatric care, respiratory and sleep medicine often become the de facto "medical home" for adults. Crucially, support for patients with neurodiverse development was only discussed in 4 of the 42 studies.

CONCLUSION: This review underlines a lack of comprehensive care models for DMD transition, specifically within the high-resource settings that dominate the literature. Future policies must bridge the gap between project-based funding and sustainable health systems, specifically addressing neurodiversity and caregiver burden.