Healthcare Transition to Adulthood in Patients with 22q11.2 Deletion Syndrome: A Comprehensive Literature Review and Transition Framework

22q11.2 deletion syndrome (22q11.2DS) is a complex genetic disorder characterized by a wide range of comorbidities requiring multidisciplinary care across the lifespan. As patients transition from pediatric to adult care, they face significant challenges, particularly with managing emerging psychiatric conditions such as schizophrenia, anxiety, and depression, alongside ongoing medical concerns involving cardiology, endocrinology, immunology, and other specialties. However, there is a lack of standardized transition protocols specifically designed for individuals with 22q11.2DS, leaving both caregivers and healthcare providers frustrated by inadequate coordination and communication during this critical period. This review addresses these gaps by presenting a framework for transition planning, drawing on existing literature and clinical practices. A comprehensive review used PubMed, Embase, and Web of Science to explore topics such as healthcare transitions, neuropsychiatric and cognitive developments, education, employment, social-sexual health, and caregiver challenges. Based on the findings, specialty-specific resources were developed and refined through a multidisciplinary 22q11.2DS clinic team. These resources include transfer passports summarizing key medical information for adult providers, transition readiness assessments, and customized transition manuals. The proposed framework emphasizes early and ongoing preparation for transitions, collaboration among providers, and patient-centered care to promote independence. The goal is to equip families and healthcare professionals with practical tools and strategies to support seamless care continuity, improve outcomes, and address the complex needs of individuals with 22q11.2DS as they navigate adulthood. This work contributes to the growing body of knowledge on healthcare transitions and highlights the need for continued research and tailored guidelines for this population.