Managing the transition of patients with rare neuromuscular disorders from childcare to adult care: a scoping literature review

Context: The transition of patients from childcare to adult care is a crucial phase, whose ultimate objective is to ensure uninterrupted, coordinated, developmentally appropriate, psychosocially sound, and comprehensive care (Blum et al., 1993). Rare disorders have some peculiarities that pose challenges to the smooth management of transition, namely small patient population, specialized knowledge concentrated in a few expert centres, and challenges in mapping the available resources. The case of patients living with rare neuromuscular diseases provides a great example, as a growing number of young patients are surviving and moving to adult life due to progress accomplished in medicine. While several attempts have been made to define the concept and objectives of transition, the extent to which transition processes are known is difficult to determine. Objectives and methods: The objective is to identify barriers, facilitating factors and modalities of managing the transition of patients with rare neuromuscular diseases between childhood and adulthood. We conducted a scoping literature review on PubMed and Scopus through the search string (transition[Title]) AND ((neuromuscular[Title/Abstract]) OR (rare[Title/Abstract])) AND ((adult*[Title/Abstract])) and applied the PRISMA methodology. Findings are categorised according to the 6 levels of integration identified by the “Rainbow model of integration” (Valentijn et al., 2013). Results: 26 articles met the inclusion criteria. Reported barriers are: systems-related (9), e.g. lack of guidelines; organizational (23), e.g. lack of coordination among services; professional (24), e.g. inadequate training of adult professionals; clinical (6), e.g. lack of communication among professionals; functional (8), e.g. difficulties of access to patients’ clinical histories; normative (10), e.g. cultural differences between teams; patient- and family-related (34), e.g., lack of training of patients and families. Reported facilitators are: system-related (1), e.g., insurance coverage; organizational (23), e.g. the presence of a patient navigator; professional (21), e.g. the presence of multidisciplinary teams; clinical (13), e.g. the definition of protocols; functional (6), e.g. the circulation of information; normative (6), e.g. the consideration of patients’ and caregivers’ needs; patient- and family-related (16), e.g., information and training to support patients and families. Among the analysed transition instruments, education processes (65%) were prominent, followed by professional and service protocols (55%), clinical data (55%), the presence of dedicated teams (50%), multidisciplinary consultations (50%), readiness surveys (45%), and personalized plans (40%). Conclusions: By elucidating the existing barriers, facilitating factors and transition models, this scoping review paves the way for providing recommendations on how to best manage the transition of patients with rare neuromuscular diseases between paediatric and adult age, so to prevent patients and relative caregivers from bearing the burden of the recomposition of services. References Blum RWm, Garell D, Hodgman CH, Jorissen TW, Okinow NA, Orr DP, et al. Transition from child-centered to adult health-care systems for adolescents with chronic conditions. Journal of Adolescent Health. 1993 Nov;14(7):570–6 Valentijn PP, Schepman SM, Opheij W, Bruijnzeels MA. Understanding integrated care: a comprehensive conceptual framework based on the integrative functions of primary care. Int J Integr Care [Internet]. 2013 Mar 22 [cited 2023 Dec 1];13(1). Available from: http://www.ijic.org/article/10.5334/ijic.886/