Social visual engagement in infants and toddlers with autism: early developmental transitions and a model of pathogenesis.
Social visual engagement in infants and toddlers with autism: early developmental transitions and a model of pathogenesis.
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自闭症的婴儿和幼儿的社交视觉参与：早期发育过渡和发病机理模型。
DOI：
10.1016/j.neubiorev.2014.10.006
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发表时间：
2015-03
影响因子：
8.2
通讯作者：
Jones, Warren
中科院分区：
文献类型：
--
作者：
Kiln, Ami;Shultz, Sarah;Jones, Warren
关键词：
目前，确定和理解自闭症病因的努力因与自闭症相关的最新分子遗传学发现与定义自闭症的核心行为症状之间的巨大脱节而受到阻碍。在这篇透视文章中，我们提出了一个系统生物学框架来弥合基因和症状之间的差距。该框架侧重于进化中高度保守且发展中早期出现的社会化基本机制。通过将这些基本的社会化机制设想为定量的内表型，我们希望通过对神经发育、行为和表观遗传变化的综合研究，将自闭症的基因和行为联系起来。这些变化既导致了典型婴儿生活中特定社会适应任务的完成，又受到其影响。然而，根据最近的研究表明，后来被诊断为自闭症的婴儿至少无法完成其中一些任务，我们建议未来的研究优先考虑一个狭窄的发育时期，跨越从反射性、皮质下控制的视觉行为到互动、皮质控制和社交视觉行为的关键转变。绘制这些早期转变驱动和受这些早期转变驱动的表观遗传、神经和行为变化可能有助于揭示自闭症的发病机制。
Efforts to determine and understand the causes of autism are currently hampered by a large disconnect between recent molecular genetics findings that are associated with the condition and the core behavioral symptoms that define the condition. In this perspective piece, we propose a systems biology framework to bridge that gap between genes and symptoms. The framework focuses on basic mechanisms of socialization that are highly-conserved in evolution and are early-emerging in development. By conceiving of these basic mechanisms of socialization as quantitative endophenotypes, we hope to connect genes and behavior in autism through integrative studies of neurodevelopmental, behavioral, and epigenetic changes. These changes both lead to and are led by the accomplishment of specific social adaptive tasks in a typical infant's life. However, based on recent research that indicates that infants later diagnosed with autism fail to accomplish at least some of these tasks, we suggest that a narrow developmental period, spanning critical transitions from reflexive, subcortically-controlled visual behavior to interactional, cortically-controlled and social visual behavior be prioritized for future study. Mapping epigenetic, neural, and behavioral changes that both drive and are driven by these early transitions may shed a bright light on the pathogenesis of autism.
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影响因子：
4
作者：
Bard, KA;Myowa-Yamakoshi, M;Matsuzawa, T
通讯作者：
Matsuzawa, T
影响因子：
5.7
作者：
Bidet-Caulet, A;Voisin, J;Fonlupt, P
通讯作者：
Fonlupt, P
影响因子：
3.1
作者：
Davies, Mari S.;Dapretto, Mirella;Sigman, Marian;Sepeta, Leigh;Bookheimer, Susan Y.
通讯作者：
Bookheimer, Susan Y.
影响因子：
16.2
作者：
Buxbaum JD;Daly MJ;Devlin B;Lehner T;Roeder K;State MW;Autism Sequencing Consortium
通讯作者：
Autism Sequencing Consortium
影响因子：
2.1
作者：
Bertin, E;Striano, T
通讯作者：
Striano, T