Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey #MMPMID41366457
Evangelista T; Ali H; Handberg C; Sejersen T; Quinlivan R; Moroni I; Masingue M; Quijano-Roy S; Atalaia A; Schara-Schmidt U; Claeys KG
Orphanet J Rare Dis 2025[Dec]; ? (?): ? PMID41366457show ga
BACKGROUND: Neuromuscular diseases (NMDs) are rare, progressive conditions that require lifelong, multidisciplinary care. Advances in diagnosis and treatment have increased survival into adulthood, making the transition from paediatric to adult care a critical stage of its management. However, evidence suggests that transition practices remain inconsistent across Europe. This study aimed to map and evaluate the current transition practices for patients with NMDs across Europe. METHODS: A cross-sectional survey was conducted by the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD) to assess current transition practices across European healthcare providers (HCPs). Sixty-seven healthcare professionals from 20 countries participated. The survey explored training provision, transition structures, professional involvement, timing, psychosocial support, and perceived barriers. Both descriptive and thematic analyses were performed. RESULTS: Only 29.9% of respondents reported structured transition protocols, and fewer than one in five (17,9%) had received formal training in transition care. The age to initiate transition was reported for most centres at 17-18 years, even though most clinicians identified 15-16 years as the ideal starting point. Multidisciplinary collaboration was present in some centres but was inconsistently implemented. Barriers included insufficient staff, lack of funding, inadequate adult care services, and poor inter-team communication. Post-transfer feedback to paediatric teams was limited. Despite these challenges, 59.7% of respondents believed that ERN EURO-NMD could facilitate improvement in transition care. CONCLUSIONS: Transition care for patients with NMDs in Europe remains fragmented and under-resourced. To ensure continuity and improve outcomes, structured, multidisciplinary transition models are needed. A European roadmap, coordinated by ERN EURO-NMD, could harmonise practices, support professional training, and guide policy development across member states.
Orphanet+J+Rare+Dis 2025 ; ? (?): ?
