结节性硬化症相关神经精神障碍研究进展
Research progress on tuberous sclerosis complex-associated neuropsychiatric disorders
结节性硬化症(TSC)是一种罕见的常染色体显性遗传病,皮肤和中枢神经系统最常受累,可累及心脏、肺、肾等多个器官。绝大多数TSC患者在一生中会出现一些神经精神症状,包括行为、精神、智力、学习、神经心理及心理社会功能障碍,统称为TSC相关神经精神障碍(TAND)。TAND清单作为一种筛查工具,通过指导TSC患者及家属与临床医师之间进行对话来识别所有潜在的神经精神障碍。现围绕TAND的概念、研究历史及筛查工具TAND清单进行综述,以期为临床开展全面系统的评估及了解患儿预后提供帮助。
更多Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder.Primarily involving the skin and central nervous system, it also impacts the heart, lungs, kidneys, and other organs.The vast majority of TSC patients may experience neuropsychiatric symptoms during their lifetime, including behavioral, mental, intellectual, academic, neuropsychological, and psychosocial disorders, which are collectively referred to as TSC-associated neuropsychiatric disorders(TAND).The TAND Checklist is a screening tool designed to identify potential neuropsychiatric disorders by facilitating dialogues between TSC patients, their families, and clinicians.This article focuses on the concept and research history of TAND and the application of the TAND Checklist, contributing to the comprehensive and systematic clinical evaluation and understanding of the prognosis of children with TAND.
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