Deconstructing autism: from unitary syndrome to contributory developmental endophenotypes.
Deconstructing autism: from unitary syndrome to contributory developmental endophenotypes.
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DOI：
10.1080/09540261.2018.1433133
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Constantino JN
中科院分区：
文献类型：
--
作者：
Constantino JN
最近一代的家庭研究表明，自闭症可以从一系列神经行为的易变性中预测出来，这些易变性在综合征被诊断出来之前就已经很明显了，而且每一种易变性都可以追溯到部分独立的遗传变异。这些责任中的一些不一定是特定于ASD-那些非特异性的可能占自闭症的“缺失遗传性”的很大一部分，（根据定义）有助于多效性，并与所谓的“共病”有关，如果它们实际上有助于（或加剧）自闭症本身的严重程度，则命名不当。将遗传变异与这些潜在特征联系起来，而不是与“自闭症”的诊断联系起来，可能会更有效地设计个性化的发展干预方法，特别是如果自闭症代表了早期相互作用的易感性的附带现象。在这篇文章中，概念化自闭症作为一种综合征的神经行为退化的影响被认为是，预测的概念，它可以产生一个关键的共同聚集的早期相互作用的神经精神疾病的负债，其中重要的是，表型表达可以由性别调节。
A recent generation of family studies has revealed that autism can be predicted from an array of neurobehavioural susceptibilities that are appreciable before the syndrome is diagnosed, and that each may be traceable to partially-independent sets of genetic variation. Some of these liabilities are not necessarily specific to ASD—those that are non-specific could account for a significant share of the ‘missing heritability’ of autism, would (by definition) contribute to pleiotropy, and relate to so-called ‘co-morbidities’, which are inappropriately named if they actually contribute to (or exacerbate) the severity of autism itself. Linking genetic variants to these underlying traits rather than to a diagnosis of ‘autism’ may be more productive in devising personalized approaches to developmental intervention, especially if autism represents an epiphenomenon of earlier-interacting susceptibilities. In this article, the implications of conceptualizing autism as a syndrome of neurobehavioural degeneration is considered, predicated on the notion that it can arise from a critical co-aggregation of earlier-interacting neuropsychiatric liabilities, the phenotypic expression of which—importantly—can be moderated by sex.
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DOI：
10.1176/appi.ajp.2010.09101470
发表时间：
2010-11
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Constantino JN;Zhang Y;Frazier T;Abbacchi AM;Law P
通讯作者：
Law P
DOI：
10.1111/j.1469-7610.2012.02558.x
发表时间：
2012-09
期刊：
Journal of child psychology and psychiatry, and allied disciplines
影响因子：
--
作者：
Landa RJ;Gross AL;Stuart EA;Bauman M
通讯作者：
Bauman M
影响因子：
64.5
作者：
Boyle EA;Li YI;Pritchard JK
通讯作者：
Pritchard JK
影响因子：
25.8
作者：
Moreno-De-Luca, Andres;Evans, David W.;Ledbetter, David H.
通讯作者：
Ledbetter, David H.
影响因子：
6.2
作者：
Frazier, Thomas W.;Youngstrom, Eric A.;Eng, Charis
通讯作者：
Eng, Charis