结节性硬化症相关神经精神障碍（TAND）的临床最新进展。
A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).
机构信息
Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa.
Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, United Kingdom.
出版信息
Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):309-320. doi: 10.1002/ajmg.c.31637. Epub 2018 Aug 16.
Abstract
Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which are often underdiagnosed and undertreated. Here, we present a clinical update on TSC-associated neuropsychiatric disorders, abbreviated as "TAND," to guide screening, diagnosis, and treatment in practice. The review is aimed at clinical geneticists, genetic counselors, pediatricians, and all generalists involved in the assessment and treatment of children, adolescents and adults with TSC, and related disorders. The review starts with a summary of the construct and levels of TAND, before presenting up-to-date information about each level of investigation. The review concludes with a synopsis of current and future TAND research.
摘要
结节性硬化症（TSC）与广泛的行为、精神、智力、学术、神经心理学和社会心理困难有关，这些问题常常被漏诊和治疗不足。在这里，我们介绍了结节性硬化症相关神经精神障碍（简称“TAND”）的临床最新进展，以指导实践中的筛查、诊断和治疗。本综述面向临床遗传学家、遗传咨询师、儿科医生以及所有参与评估和治疗 TSC 及相关疾病的儿童、青少年和成人的综合科医生。本综述首先总结了 TAND 的结构和水平，然后介绍了每个研究水平的最新信息。最后，对当前和未来的 TAND 研究进行了概述。
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