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利用同胞设计理解神经发育障碍:从基因与环境到预防规划。

Using Sibling Designs to Understand Neurodevelopmental Disorders: From Genes and Environments to Prevention Programming.

作者信息

Wade Mark, Prime Heather, Madigan Sheri

机构信息

Department of Applied Psychology and Human Development, University of Toronto, 252 Bloor Street W., Toronto, ON, Canada M5S 1V6.

Department of Psychology, University of Calgary, 2500 University Drive NW, Calgary, AB, Canada T2N 1N4.

出版信息

Biomed Res Int. 2015;2015:672784. doi: 10.1155/2015/672784. Epub 2015 Jul 15.

Abstract

Neurodevelopmental disorders represent a broad class of childhood neurological conditions that have a significant bearing on the wellbeing of children, families, and communities. In this review, we draw on evidence from two common and widely studied neurodevelopmental disorders-autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD)-to demonstrate the utility of genetically informed sibling designs in uncovering the nature and pathogenesis of these conditions. Specifically, we examine how twin, recurrence risk, and infant prospective tracking studies have contributed to our understanding of genetic and environmental liabilities towards neurodevelopmental morbidity through their impact on neurocognitive processes and structural/functional neuroanatomy. It is suggested that the siblings of children with ASD and ADHD are at risk not only of clinically elevated problems in these areas, but also of subthreshold symptoms and/or subtle impairments in various neurocognitive skills and other domains of psychosocial health. Finally, we close with a discussion on the practical relevance of sibling designs and how these might be used in the service of early screening, prevention, and intervention efforts that aim to alleviate the negative downstream consequences associated with disorders of neurodevelopment.

摘要

神经发育障碍是一大类儿童神经系统疾病,对儿童、家庭和社区的福祉有着重大影响。在本综述中,我们借鉴了两种常见且被广泛研究的神经发育障碍——自闭症谱系障碍(ASD)和注意力缺陷多动障碍(ADHD)——的证据,以证明基于遗传信息的同胞设计在揭示这些疾病的本质和发病机制方面的效用。具体而言,我们研究了双胞胎、复发风险和婴儿前瞻性追踪研究如何通过对神经认知过程以及结构/功能神经解剖学的影响,促进我们对神经发育疾病的遗传和环境易感性的理解。研究表明,患有ASD和ADHD的儿童的同胞不仅在这些领域面临临床上更高的问题风险,而且在各种神经认知技能和心理社会健康的其他领域也存在阈下症状和/或细微损伤。最后,我们讨论了同胞设计的实际相关性,以及如何将其用于早期筛查、预防和干预工作,旨在减轻与神经发育障碍相关的负面下游后果。

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