期刊
DIALOGUES IN CLINICAL NEUROSCIENCE
卷 22, 期 1, 页码 65-72出版社
TAYLOR & FRANCIS LTD
DOI: 10.31887/DCNS.2020.22.1/macrocq
关键词
autism; intellectual disability; ADHD; neurodevelopmental disorder; DSM-5; RDoC; copy number variant (CNV); genome-wide association study (GWAS); genetics
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
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