What are quantitative traits and how can they be used in autism research?
What are quantitative traits and how can they be used in autism research?
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DOI：
10.1002/aur.2937
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发表时间：
2023-05
期刊：
影响因子：
4.7
通讯作者：
K. Lyall
中科院分区：
文献类型：
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作者：
K. Lyall
数量性状是可测量的特征，分布在与潜在生物学相关的连续尺度上。在行为和精神病学研究中使用数量性状的兴趣越来越大，特别是在基于行为报告诊断疾病的研究中，包括自闭症。这篇简短的评论描述了数量特征，包括定义它们是什么，我们如何测量它们，以及在自闭症研究中使用它们的关键考虑因素。测量的例子包括行为报告量表，如社会反应性量表和更广泛的自闭症表型问卷，以及生物学测量，如某些神经成像指标；此类测量可以捕获量化特征或结构，如更广泛的自闭症表型、社交和社会认知。量化特质测量与研究领域标准(RDoC)方法一致，可用于自闭症研究，以帮助更好地了解因果路径和生物过程。它们还可以用来帮助识别这些途径中涉及的遗传和环境因素，从而导致对整个种群特征的影响的理解。最后，在某些情况下，它们可用于评估治疗反应，并辅助筛查和临床表型特征。此外，数量性状测量的实际好处包括相对于分类方法改进的统计能力和(对于某些测量方法)效率。最终，自闭症领域的研究可能受益于将量化特质测量作为分类诊断的补充，以促进对自闭症和神经发育的理解。
Quantitative traits are measurable characteristics distributed along a continuous scale thought to relate to underlying biology. There is growing interest in the use of quantitative traits in behavioral and psychiatric research, particularly in research on conditions diagnosed based on reports of behaviors, including autism. This brief commentary describes quantitative traits, including defining what they are, how we can measure them, and key considerations for their use in autism research. Examples of measures include behavioral report scales like the Social Responsiveness Scale and Broader Autism Phenotype Questionnaire, as well as biological measurements, like certain neuroimaging metrics; such measures can capture quantitative traits or constructs like the broader autism phenotype, social communication, and social cognition. Quantitative trait measures align with the Research Domain Criteria (RDoC) approach and can be used in autism research to help gain a better understanding of causal pathways and biological processes. They can also be used to aid identification of genetic and environmental factors involved in such pathways, and thereby lead to an understanding of influences on traits across the entire population. Finally, in some cases, they may be used to gauge treatment response, and assist screening and clinical characterization of phenotype. In addition, practical benefits of quantitative trait measures include improved statistical power relative to categorical classifications and (for some measures) efficiency. Ultimately, research across autism fields may benefit from incorporating quantitative trait measures as a complement to categorical diagnosis to advance understanding of autism and neurodevelopment.