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

This article focuses on the challenges and proposed solutions for the healthcare transition from pediatric to adult services in individuals with 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder with diverse medical and neuropsychiatric comorbidities. It highlights the lack of standardized transition protocols tailored to 22q11.2DS and presents a comprehensive framework developed through literature review and multidisciplinary clinical input, including tools such as a Transition Manual, Transition Readiness Assessments, and a Transfer of Care Passport to facilitate coordinated, patient-centered care. The framework emphasizes early preparation, multidisciplinary collaboration, and addressing both medical and psychosocial needs to improve continuity of care, autonomy, and quality of life. The article also underscores the importance of ongoing research and education to better support individuals with 22q11.2DS and their caregivers during this critical period.