Orphanet Journal of Rare Diseases | A Survey on Transition Care Practices for Neuromuscular Disorders in Europe

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This study provides the first systematic assessment of transition care practices for neuromuscular disorders across Europe, revealing structural deficiencies and training gaps, offering important reference for establishing unified transition care standards.

 

Literature Overview

This article, titled 'Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey', published in Orphanet Journal of Rare Diseases, reviews and summarizes the current practices in transitioning care for patients with neuromuscular disorders (NMDs) from pediatric to adult care among 67 healthcare professionals from 20 European countries. The study highlights issues such as inadequate training, inconsistent structures, and poor communication in transition care, emphasizing the need for a unified European care roadmap.

Background Knowledge

Neuromuscular diseases are a group of rare and heterogeneous disorders that primarily affect the peripheral nervous system, leading to progressive muscle weakness and multisystem complications. With recent advances in diagnosis and multidisciplinary care, the life expectancy of patients with NMDs has significantly increased, making the transition from pediatric to adult care a critical phase in disease management. However, there is substantial variation in transition practices across European countries, including lack of structured pathways, systematic training, psychosocial support, and communication between teams. This study, using data from the ERN EURO-NMD network, aims to map current practices and identify areas for improvement to provide empirical evidence for developing a European care roadmap.

 

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Research Methods and Experiment

The study employed a cross-sectional survey design initiated by the Transition Working Group of ERN EURO-NMD, covering 82 medical centers across Europe, with 67 participants completing the questionnaire. The questionnaire included 8 sections covering demographics of respondents and institutions, transition experiences, national frameworks, features of transition processes, patient and family support, transition barriers, quality monitoring of care, and future directions. Data analysis included descriptive statistics, chi-square tests, t-tests, natural language processing (NLP), and inconsistency scoring at the national level.

Key Findings and Perspectives

• Only 29.9% of respondents reported having structured transition care protocols in their institutions, and only 17.9% had received formal transition care training.
• Most institutions start the transition process at ages 17-18, although clinicians generally agree that the optimal starting age is 15-16.
• Major barriers in the transition process include lack of multidisciplinary teams, insufficient training, funding shortages, and inadequate adult care services.
• Only 10.4% of institutions have formal mechanisms to assess the quality of transition care, and feedback mechanisms are not systematic.
• 59.7% of respondents believe that ERN EURO-NMD can facilitate the standardization and optimization of transition care.

Implications and Future Directions

The findings support the development of a unified transition care roadmap across Europe to improve care continuity and patient outcomes. The study also underscores the importance of training and resource allocation, as well as the necessity for multidisciplinary team collaboration. Future efforts should focus on developing structured transition care models, establishing standardized evaluation metrics, and exploring the role of ERN EURO-NMD in harmonizing practices across countries.

 

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Conclusion

This study offers the first systematic assessment of the current state of transition care practices for neuromuscular disorder patients in Europe, revealing significant inter- and intra-institutional variations. Although most healthcare professionals have extensive clinical experience, structured transition care protocols and formal training remain scarce, and psychosocial support and feedback mechanisms are generally inadequate. The study finds that the European Reference Network (ERN EURO-NMD) has broad potential in standardizing transition care, providing training resources, and facilitating cross-national knowledge exchange. Future research should focus on developing standardized evaluation tools, clarifying national-level transition guidelines, and assessing the impact of structured transition care on patient outcomes. This study provides empirical evidence for the development of a European transition care roadmap and offers guidance for policy-making and resource allocation.

 

Teresinha Evangelista, Houda Ali, Charlotte Handberg, Ulrike Schara-Schmidt, and Kristl G Claeys. Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey. Orphanet Journal of Rare Diseases.