Department of Health Sciences, Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Università degli Studi di Milano, Milan, Italy.
Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):355-364. doi: 10.1002/ajmg.c.31653. Epub 2018 Sep 25.
Healthcare transition from childhood to adulthood is required to ensure continuity of care of an increasing number of individuals with chronic conditions surviving into adulthood. The transition for patients with tuberous sclerosis complex (TSC) is complicated by the multisystemic nature of this condition, age-dependent manifestations, and high clinical variability and by the presence of intellectual disability in at least half of the individuals. In this article, we address the medical needs regarding each TSC-related manifestation in adulthood, and the services and support required. We review existing models of transition in different chronic conditions, discuss our experience in transitioning from the pediatric to the adult TSC Clinic at our Institution, and propose general rules to follow when establishing a transition program for TSC. Although a generalizable transition model for TSC is likely not feasible for all Institutions, a multidisciplinary TSC clinic is probably the best model, developed in accordance with the resources available and country-specific healthcare systems. Coordination of care and education of the adult team should be always sought regardless of the transition model.
从儿童期到成年期的医疗保健过渡对于确保越来越多患有慢性疾病的人能够顺利过渡至关重要。患有结节性硬化症（TSC）的患者的过渡比较复杂，因为这种疾病具有多系统性质，与年龄相关的表现，以及高度的临床变异性，而且至少有一半的患者存在智力残疾。在本文中，我们将讨论成年人中与 TSC 相关的各种表现的医疗需求，以及所需的服务和支持。我们回顾了不同慢性疾病中现有的过渡模式，讨论了我们在将患者从儿科 TSC 诊所过渡到我们机构的成人 TSC 诊所的经验，并提出了在为 TSC 建立过渡计划时应遵循的一般规则。虽然对于所有机构来说，一个可推广的 TSC 过渡模式可能不可行，但多学科 TSC 诊所可能是最好的模式，该模式是根据可用资源和特定国家的医疗保健系统制定的。无论采用何种过渡模式，都应始终寻求护理协调和对成人团队的教育。
