Neurodevelopmental disorders-the history and future of a diagnostic concept
Neurodevelopmental disorders-the history and future of a diagnostic concept
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DOI：
10.31887/dcns.2020.22.1/macrocq
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发表时间：
2020-03-01
影响因子：
8.3
通讯作者：
Crocq, Marc-Antoine
中科院分区：
文献类型：
--
作者：
Morris-Rosendahl, Deborah J.;Crocq, Marc-Antoine
本文描述了神经发育障碍（ndd）诊断类别的历史，直到DSM-5。我们进一步分析了遗传学的发展将如何改变ndd的分类和诊断。在DSA1-5中，ndd包括智力残疾（ID）。自闭症谱系障碍（ASD）和注意力缺陷/多动障碍（ADHD）。德语、法语和英语国家的医生(如维卡德。乔治·埃斯基罗尔，downasperger。和Kanner)在整个18世纪和20世纪为这些疾病的现象学定义做出了贡献。这些诊断类别显示出相当大的共病性和表型重叠。ndd是精神病学的一个章节，最有可能从国家精神卫生研究所的研究领域标准项目所倡导的方法中受益。基因研究支持这种假设，即ID， ASD， ADHD，精神分裂症。双相情感障碍是一个神经发育连续体。ASD中反复观察到的拷贝数变异和破坏性基因变异（如CD118、16p11.2、SCN2A）的鉴定导致采用基因型优先的方法在病因水平上表征个体。(C) 2019， AICH -施维雅集团
This article describes the history of the diagnostic class of neurodevelopmental disorders (NDDs) up to DSM-5. We further analyze how the development of genetics will transform the classification and diagnosis of NDDs. In DSA1-5, NDDs include intellectual disability (ID). autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). Physicians in German-, French- and English-speaking countries (eg, Weikard. Georget Esquirol, Down_ Asperger. and Kanner) contributed to the phenomenological definitions of these disorders throughout the 18th and 20th centuries. These diagnostic categories show considerable comoibidity and phenotypic overlap. NDDs are one of the chapters of psychiatric nosology most likely to benefit from the approach advocated by the National Institute of Mental Health's Research Domain Criteria project. Genetic research supports the hypothesis that ID, ASD, ADHD, schizophrenia. and bipolar disorder lie on a neurodevelopmental continuum. The identification of recurrently observed copy number variants and disruptive gene variants in ASD (eg, CD118, 16p11.2, SCN2A) led to the adoption of the genotype-first approach to characterize individuals at the etiological level. (C) 2019, AICH - Servier Group