Duchenne Muscular Dystrophy and Delphi Methodology: International Consensus on Pediatric-to-Adult Transition

Duchenne muscular dystrophy (DMD) is a progressive genetic neuromuscular disorder that, thanks to recent therapeutic and care advances, now allows for significantly longer patient survival. This epidemiological shift has created an urgent need for structured transition pathways from pediatric to adult healthcare services. The international study published in 2025 in the European Journal of Paediatric Neurology applied the Delphi methodology to build internationally shared, clinically applicable recommendations for optimizing this critical care transition.

1. Why the Delphi Methodology for Duchenne Muscular Dystrophy

The multisystemic complexity of DMD and the variability of international healthcare systems make the transition process difficult to standardize using conventional research methods. The Delphi methodology — based on structured iterative rounds of expert consultation — proved the ideal instrument for building robust consensus in a field where direct evidence remains limited. The study panel included clinicians with proven expertise in DMD management — neurologists, pulmonologists, cardiologists, and physiatrists — alongside patient representatives and international healthcare stakeholders. Through successive consultation rounds, the group identified, discussed, and validated key recommendations across three core domains:

• Transition planning and timing
• Multidisciplinary clinical management
• Organizational and systemic aspects

2. Core Principles of DMD Transition: Findings from the Delphi Consensus

The international Delphi consensus defined four non-negotiable principles for an effective transition in patients with Duchenne muscular dystrophy:

• Patient-centered care: the transition pathway must be built around the individual patient’s needs, preferences, and goals
• Continuity of care: no interruptions in clinical management, even during the handover between teams
• Individualized pathways: each transition plan must account for the patient’s individual disease history and progression
• Coordination between pediatric and adult services: structured communication between both teams is an essential prerequisite

According to the Delphi panel, transition must not be conceived as an isolated event, but as a continuous, planned process that begins early in adolescence and continues after the formal transfer to adult healthcare services is completed.

3. Operational Elements for Effective DMD Transition

3.1 Early and Structured Planning

The Delphi consensus recommends initiating transition planning well in advance of the actual transfer to adult services. The plan must be individualized and calibrated to the natural history of DMD, as well as the patient’s specific clinical, social, and family needs. Early planning is an independent predictor of positive long-term outcomes in DMD patients.

3.2 Effective Coordination Between Pediatric and Adult Teams

One of the most critical elements identified through the Delphi methodology is structured, documented communication between the pediatric and adult care teams. The handover must be supported by complete, up-to-date, and shared clinical documentation — including disease history, ongoing treatments, respiratory and cardiac management needs, and the patient’s psychosocial profile.

3.3 Active Involvement of the Patient and Family

The transition process must actively promote the development of self-management skills in the patient with DMD. At the same time, the family should be supported in adapting to a progressively less central role, without generating a sense of abandonment or disorientation. The family remains an essential resource, but the focus gradually shifts toward the young adult’s autonomy.

3.4 The Transition Coordinator: A Key Figure in the DMD Pathway

The study strongly emphasizes the importance of a dedicated transition coordinator. This professional role involves facilitating communication among the various specialists involved, monitoring each patient’s individual transition plan, managing organizational challenges, and ensuring continuity of care. In Duchenne muscular dystrophy, where clinical complexity and the number of specialists involved is particularly high, the transition coordinator represents a differentiating factor in care quality.

4. Multidisciplinary Clinical Management During Transition

DMD is a multisystem disorder by definition. The Delphi consensus reaffirms that care delivery must guarantee continuity of the multidisciplinary model throughout and after the transition period. Specialties involved include:

• Neurology: monitoring of neuromuscular progression and pharmacological management
• Pediatric and adult pulmonology: respiratory failure management, non-invasive ventilation (NIV), spirometric follow-up
• Cardiology: surveillance and treatment of progressive cardiomyopathy
• Physical medicine and rehabilitation: preservation of residual motor function and prevention of orthopedic complications
• Clinical psychology: support for the patient and family during critical transition phases

Respiratory management is an area of particular relevance for the pediatric specialist in respiratory diseases. The transition from pediatric to adult pulmonology in DMD requires meticulous planning, given that progression toward respiratory failure may accelerate during this critical phase. The Delphi consensus recommends that NIV guidelines and spirometric follow-up parameters be explicitly documented and transmitted to the adult team well in advance of the formal handover.

5. Current Challenges and International Variability

Despite the availability of recommendations, the Delphi consensus highlights significant challenges in the real-world implementation of transition pathways for patients with Duchenne muscular dystrophy. The main problem areas identified are:

• Considerable variability in transition models across different countries
• Absence of structured transition programs in many centers
• Insufficient communication between pediatric and adult teams
• Inadequate training of adult healthcare professionals on pediatric-onset conditions
• Lack of integrated multidisciplinary competencies within adult services

These factors contribute to care discontinuity and potential deterioration of clinical outcomes, at a stage of the DMD patient’s life that is already physiologically vulnerable.

6. Conclusions: Operational Priorities from the Delphi Consensus on DMD

The international study applying the Delphi methodology to Duchenne muscular dystrophy represents a fundamental reference for all professionals involved in managing these patients. The key operational priorities emerging from the consensus are:

• Implementation of structured, standardized transition pathways adaptable to different national healthcare contexts
• Specific training for adult healthcare professionals on the clinical features of DMD
• Greater operational integration between pediatric and adult services, with shared documentation tools
• Systematic and early involvement of both the patient and family in the transition process

The ultimate goal is to ensure an effective transition that preserves — and ideally improves — the quality of life and clinical outcomes for patients with Duchenne muscular dystrophy as they navigate the critical move to adult care.

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