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精神障碍的诊断分类与家族遗传学研究。

Diagnostic classification of psychiatric disorders and familial-genetic research.

作者信息

Maier W

机构信息

Department of Psychiatry University of Bonn, Germany.

出版信息

Dialogues Clin Neurosci. 1999 Dec;1(3):191-6. doi: 10.31887/DCNS.1999.1.3/wmaier.

DOI:10.31887/DCNS.1999.1.3/wmaier
PMID:22033840
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3181578/
Abstract

The validity of diagnostic definitions in psychiatry is directly related to the extent to which their etiology can be specified. However, since detailed knowledge of causal or susceptibility factors is lacking for most psychiatric disorders with a known or suspected familial-genetic origin, the current widely accepted classification systems largely fail to achieve this ideal. To illustrate this problem, this paper looks at the difficulties posed by the criteria for schizophrenia as laid down in the International Classification of Diseases, 10th revision (ICD-10) and the Diagnostic and Statistical Manual of Mental Disorders, Third Edition, Revised (DSM-III-R), and highlights the discrepancies between the majority of diagnostic boundaries and the various phenotype aggregation patterns observed in family studies. Progress in our understanding of psychiatric disorders requires to be firmly based on the findings of epidemiological studies as well as on a clear appreciation of the limitations of classification tools.

摘要

精神病学中诊断定义的有效性与病因能够明确的程度直接相关。然而,由于大多数已知或疑似有家族遗传起源的精神障碍缺乏对因果或易感性因素的详细了解,目前广泛接受的分类系统在很大程度上未能实现这一理想。为了说明这个问题,本文探讨了《国际疾病分类》第10版(ICD - 10)和《精神疾病诊断与统计手册》第三版修订本(DSM - III - R)中规定的精神分裂症标准所带来的困难,并强调了大多数诊断界限与家族研究中观察到的各种表型聚集模式之间的差异。我们对精神障碍的理解取得进展需要牢固地基于流行病学研究的结果以及对分类工具局限性的清晰认识。

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Front Genet. 2019 Dec 18;10:1137. doi: 10.3389/fgene.2019.01137. eCollection 2019.

本文引用的文献

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Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis.通过关联分析和连锁分析,支持18号染色体短臂上的一个位点赋予精神分裂症家族中功能性精神病易感性。
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The genetics of Alzheimer disease: current status and future prospects.阿尔茨海默病的遗传学:现状与未来展望。
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