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Review
. 2025 Oct 13:174:74-80.
doi: 10.1016/j.pediatrneurol.2025.10.006. Online ahead of print.

Gaps and Challenges in the Transition of Care in Neuromuscular Disorders With a Focus on Duchenne Muscular Dystrophy

Alessia Marcassoli  1 , Nethmi Rajapakse  2 , Erika Guastafierro  3 , Jo-Anne Petropoulos  2 , Giulia Trucco  4 , Angelica Mazzilli  1 , Sebastian Friedrich  5 , Sunil Rodger  5 , Jana Willems  5 , Delaney Ringer  2 , Julia Frei  2 , Anna Swain  2 , Matilde Leonardi  1 , Nardo Nardocci  4 , Thorsten Langer  5 , Olaf Kraus De Camargo  2 , Jan Willelm Gorter  2 , Kinga Pozniak  2 , Anne Fournier  6 , Rocio Gutierrez  6 , Fernanda De Angelis  7 , Homira Osman  8 , Gudrun Reeskau  9 , Dayle McCauley  2 , Ellen Wang  2 , Beatrice Brigliadori  4 , Isabella Moroni  4
Affiliations
Review

Gaps and Challenges in the Transition of Care in Neuromuscular Disorders With a Focus on Duchenne Muscular Dystrophy

Alessia Marcassoli et al. Pediatr Neurol. .

Abstract

Background: Transition from pediatric to adult care in neuromuscular disorders represents a great challenge for both patients and their families, and especially for patients with Duchenne Muscular Dystrophy. This review aims to investigate the transition experience from pediatric to adult care of patients and their families, considering different aspects of daily life.

Methods: Medline, Embase, PsycINFO, CINHAL, Web of Science, and SCOPUS electronic databases were searched to identify studies published from January 2000 to December 2024. From the initial 1955 research articles, 26 were finally included for qualitative synthesis. Studies reported information about transition process, activities of daily living, and relationships.

Results: Our results show the need, as expressed by patients and caregivers, for multidisciplinary collaboration between pediatric and adult care settings, proposing the adoption of an adolescent-centered approach that prompts patients to share their perspectives on specific health needs directly with caregivers. The findings underscore the importance of also considering the psychological and social aspects that can influence the transition path across different areas of life.

Conclusions: Without structured guidelines and indications, patients and families feel left alone during the transition process. Transition programs should consider all the life areas in which patients are involved, including strategies to improve engagement in social, educational, and professional settings.

Keywords: Adolescent; Caregivers; Disability; Duchenne Muscular Dystrophy; Gaps; Quality of Life; Transition of care.

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Conflict of interest statement

Declaration of competing interest This work was supported by the Italian Ministry of Health [protocol n° 825575, 2021]. This work is part of the Grow-DMD Project funded by the European Joint Programme on Rare Diseases 2020, Protocol N°825575. Isabella Moroni is a member of the European Reference Network for Neuromuscular Disorders (ERN-EURO-NMD). Erika Guastafierro is supported by the Italian Ministry of Health (RRC). For the remaining authors, none was declared.

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