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首页> 外文期刊>Journal of the International Neuropsychological Society: JINS >Facilitating Autism Research
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Facilitating Autism Research

机译：促进自闭症研究

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Early autism research focused on behavior and cognition. In recent decades, the pace of research has accelerated, and advances in imaging and genetics have allowed the accumulation of biological data. Nevertheless, a coherent picture of the syndrome at either phenotypic or biological level has not emerged. We see two fundamental obstacles to progress in basic understanding of autism. First, the two defining features (impairment in social interactions and communication, and restricted, repetitive behaviors and interests) are historically seen as integrally related. Others hold that these two major traits are fractionable and must be studied independently, casting doubt on autism as a coherent syndrome. Second, despite much recent research on brain structure and function, environmental factors, and genetics/genomics, findings on the biological level have not generally aligned well with those on the phenotypic level. In the first two sections, we explore these challenges, and in the third section, we review approaches that may facilitate progress, such as (1) including in studies all individuals defined by social impairment without regard to repetitive behaviors, (2) forming narrowly defined subtypes by thorough characterization on specific features, both diagnostic and non-diagnostic, (3) focusing on characteristics that may be relatively robust to environmental influence, (4) studying children as early as possible, minimizing environmental influence, and including longitudinal course as an important part of the phenotype, (5) subtyping by environmental risk factors, (6) distinguishing between what participants can do and what they typically do, and (7) aggregating large data sets across sites. (JINS, 2017, 23, 903–915)
机译：早期自闭症研究专注于行为和认知。近几十年来，研究的步伐加速了，成像和遗传学的进步允许积累生物数据。然而，没有出现在任何一种表型或生物学水平的综合症的相干图片。我们看到了对自闭症的基本理解进步的两个基本障碍。首先，两个定义特征（社会互动和通信的损害以及限制，重复行为和兴趣）历史地被视为一体地相关。其他人认为这两个主要特征是分级的，必须独立研究，对自闭症造成怀疑作为连贯综合征。其次，尽管最近关于大脑结构和功能的研究，环境因素和遗传学/基因组学研究，但生物学水平的结果通常与表型水平的那些结果一般不良好。在前两部分中，我们探讨了这些挑战，在第三部分中，我们审查了可能促进进步的方法，例如（1），包括在研究社会障碍所定义的所有个人而不考虑到重复行为，（2）狭隘地形成通过彻底表征特定特征的定义亚型，诊断和非诊断，（3）专注于对环境影响力相对稳健的特征，（4）尽早研究儿童，最大限度地减少环境影响，包括纵向课程表型的重要部分，（5）环境风险因素的亚型，（6）区分参与者可以做的以及它们通常做的，并且（7）跨站点聚合大数据集。 （济慈，2017,23,903-915）

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