Transitioning adolescents with rare forms of diabetes to adult care: challenges and perspectives

Abstract

Background: Adolescents and young adults (AYA) with rare forms of diabetes - including Wolfram syndrome (WS), Alström syndrome (AS), Bardet-Biedl syndrome (BBS), and maturity-onset diabetes of the young (MODY) - face unique challenges during the transition to adult care. These challenges are intensified by multisystem endocrine involvement, neurocognitive and sensory impairments, and limited adult provider expertise.

Objective: This narrative review describes transition-specific barriers in rare diabetes syndromes, explores current initiatives, and proposes recommendations for care models and health system reform.

Key issues: Syndromic forms of diabetes often involve complex endocrine dysfunctions beyond glycemic control, including diabetes insipidus, hypogonadism, and thyroid or pituitary anomalies. Transitions are further hindered by diagnostic uncertainty, fragmented care structures, and insufficient interdisciplinary coordination. Pediatric care is often proactive and family-centered, while adult services are fragmented and reactive. Dedicated multidisciplinary transition services remain scarce.

Recommendations: Best practices include early transition planning, syndrome-specific education, the use of patient-reported outcome measures (PROMs), and integration of digital tools. Structured collaboration between pediatric and adult providers - including virtual models - should be supported. Patient-centered approaches must address both medical and psychosocial readiness, with tailored communication for those with sensory or cognitive impairments.

Health system and policy needs: Sustainable transition programs require dedicated funding, institutional prioritization, and policy inclusion in national and European rare disease frameworks. Without adequate financial support, disparities in care continuity and outcomes are likely to persist.

Conclusion: A coordinated, multidisciplinary, and resourced transition model is essential to safeguard health, autonomy, and long-term outcomes in AYA with rare diabetes syndromes.

Plain language summary: Young people with rare forms of diabetes - such as Wolfram syndrome (WS), Alström syndrome (AS), Bardet-Biedl syndrome (BBS), or maturity-onset diabetes of the young (MODY) - face special challenges when moving from pediatric to adult healthcare. These rare conditions often affect more than just blood sugar and can involve vision, hearing, and other parts of the body. As they grow older, these adolescents must not only manage their complex health needs but also learn to take more responsibility for their care. This article explains why the transition to adult care is especially difficult for this group. It shares experiences from families and healthcare providers and describes what can help: early preparation, teamwork between child and adult doctors, digital tools, and emotional support. The authors call for stronger guidelines and better cooperation across healthcare systems so that young people with rare diabetes can stay healthy and feel supported during this important time in life.

Keywords: adolescents and young adults; monogenic diabetes; multidisciplinary care; patient-centered care; rare diabetes; transition of care.

Figure 1

Resource-oriented model of transition care for AYA with rare diabetes. This concentric model illustrates the layered support structures surrounding an AYA with a rare diabetes syndrome. At the core are the patient and their family, including parents and close social contacts. The second layer represents community and social support networks, such as schools, caregivers, and peer connections. Allied health professionals and general medical care providers, including pediatricians, dietitians, psychologists, and general practitioners, form the third layer. Specialist medical care – such as pediatric diabetologists, endocrinologists, neurologists, and geneticists – is positioned next, providing disease-specific expertise. The outermost layer includes systemic and policy-level structures, such as expert centers, the Endo-ERN and SWEET networks, and regulatory authorities. The model emphasizes the need for coordinated, multilayered engagement to ensure successful transition from pediatric to adult care (37).

Figure 2

Structured transition of care process for AYA with rare forms of diabetes. This diagram outlines the key stages and responsible stakeholders involved in the transition from pediatric to adult care for AYA with rare diabetes syndromes. The process includes timely initiation, designation of pediatric and adult care coordinators, creation of a clinical summary, assessment of patient competence, and structured referral to involved specialists. The aim is to ensure continuity, multidisciplinary collaboration, and patient-centered care throughout the transition phase.