Varcin Kandice J, Jeste Shafali S
aTelethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia bUCLA Semel Institute of Neuroscience and Human Behavior, David Geffen School of Medicine, Los Angeles, California, USA.
Curr Opin Psychiatry. 2017 Mar;30(2):85-91. doi: 10.1097/YCO.0000000000000312.
We review studies of infants at risk for autism spectrum disorder (ASD), proposing that the earliest manifestations of disrupted brain development can shed light on prebehavioural markers of risk and mechanisms underlying the heterogeneity of ASD.
Prospective, longitudinal studies of infants at risk for ASD have revealed that behavioural signs of ASD are generally not observed until the second year of life. The developmental signs within the first year are often subtle and rooted in processes outside the core diagnostic domains of ASD, such as motor and visual perceptual function. However, studies examining early brain development and function have identified a myriad of atypicalities within the first year that are associated with risk for ASD.
Longitudinal studies of high-risk infants provide a unique opportunity to identify and quantify the sources of the atypical development and developmental heterogeneity of ASD. Integration of assays of behaviour and brain in the first year of life, expansion of the definition of high risk, and coordinated efforts in multisite investigations to adequately power integrative studies will lead to new insights into mechanisms of atypical development and, ultimately, the ideal timing and target for interventions that aim to attenuate delays or impairments.
我们回顾了针对自闭症谱系障碍（ASD）高危婴儿的研究，提出大脑发育紊乱的最早表现可以揭示ASD风险的行为前标志物以及ASD异质性的潜在机制。
对ASD高危婴儿的前瞻性纵向研究表明，通常直到生命的第二年才会观察到ASD的行为迹象。第一年的发育迹象往往很微妙，且源于ASD核心诊断领域之外的过程，如运动和视觉感知功能。然而，研究早期大脑发育和功能的研究已经在第一年发现了无数与ASD风险相关的异常情况。
对高危婴儿的纵向研究提供了一个独特的机会，来识别和量化ASD非典型发育和发育异质性的来源。将生命第一年的行为和大脑检测方法相结合，扩大高危定义，以及在多中心研究中进行协调努力，以充分支持整合研究，将为非典型发育机制带来新的见解，并最终为旨在减轻延迟或损伤的干预措施提供理想的时机和靶点。
