Impairment in Functional Capacity as an Endophenotype Candidate in Severe Mental Illness

Impairment in Functional Capacity as an Endophenotype Candidate in Severe Mental Illness
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DOI:
10.1093/schbul/sbr046
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发表时间:
2012-11-01
影响因子:
6.6
通讯作者:
Siever, Larry J.
Siever, Larry J.
中科院分区:
医学1区
文献类型:
--
作者:
Harvey, Philip D.;McClure, Margaret M.;Siever, Larry J.

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日常功能障碍(也称为“残疾”)是精神分裂症(SZ)和双相情感障碍以及其他神经精神疾病的中心特征。SZ和双相情感障碍(BPI)都有遗传因素,认知障碍是这两种疾病日常功能障碍的主要推定决定因素,也显示出很大的遗传性,事实上已被认为是这些疾病的内表型。在这篇文章中,我们回顾了数据,并提出了我们的案例,即功能能力受损,即导致功能残疾的功能能力,也可能是一种可遗传的特征,在BPI和SZ等神经精神疾病中很常见。虽然以前很少有关于这些能力的遗传性的研究,但这是一个受到大量研究关注的领域。我们认为在测量SZ认知功能方面的进展可能有助于发现基因对功能能力的影响。功能能力测量接近真实世界的损伤,以适当的心理测量精度测量,用于遗传度分析,并且似乎受可能导致残疾的环境因素的影响最小,如环境因素、症状和残疾补偿。我们的结论是,这些功能能力测量有可能成为基因分析的目标,这些测量应该在日常功能受损的神经精神疾病中考虑。
Impairment in everyday functioning (also referred to as "disability") is a central feature of schizophrenia (SZ) and bipolar disorder, as well as other neuropsychiatric conditions. There is a genetic contribution to both SZ and bipolar illness (BPI), and the primary putative determinant of impairments in everyday functioning across these 2 conditions, cognitive impairments, also show substantial heritability and in fact have been proposed to be endophenotypes for these disorders. In this article, we review data and make our case that impairments in functional capacity, the functional abilities that result in functional disability, may also be a heritable trait that is common across neuropsychiatric illnesses such BPI and SZ. While there has been little previous research on the heritability of these abilities, it is an area receiving substantial research attention. We consider advances in the measurement of cognitive functioning in SZ that may facilitate the discovery of genetic influences on functional capacity. Functional capacity measures are proximal to real-world impairments, measured with suitable psychometric precision to be used in heritability analyses, and appear to be minimally influenced by environmental factors that may cause disability such as environmental factors, symptoms, and disability compensation. Our conclusion is that these functional capacity measures have potential to be the target of genetic analyses and that these measures should be considered across neuropsychiatric conditions where impairments in everyday functioning are present.