Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition. Over the past decade, a considerable number of approaches have been developed to identify potential neuroimaging-based biomarkers of ASD that have uncovered specific neural mechanisms that underlie behaviors associated with ASD. However, the substantial heterogeneity among individuals who are diagnosed with ASD hinders the development of biomarkers. Disentangling the heterogeneity of ASD is pivotal to improving the quality of life for individuals with ASD by facilitating early diagnosis and individualized interventions for those who need support. In this review, we discuss recent advances in neuroimaging that have facilitated the characterization of the heterogeneity of this condition using 3 frameworks: neurosubtyping, dimensional models, and normative models. We also discuss the challenges, possible solutions, and clinical utility of these 3 frameworks. We argue that several factors need to be considered when parsing heterogeneity using neuroimaging, including co-occurring conditions, neurodevelopment, heredity and environment, and multisite and multimodal data. We close with a discussion of future directions for achieving a better understanding of the neural mechanisms that underlie neurodevelopmental heterogeneity and the future of precision medicine in ASD.

中文翻译：

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用神经影像学研究解开自闭症异质性的未来


自闭症谱系障碍 （ASD） 是一种终生的神经发育疾病。在过去的十年中，已经开发了大量方法来识别潜在的基于神经影像学的 ASD 生物标志物，这些生物标志物揭示了与 ASD 相关行为背后的特定神经机制。然而，被诊断患有 ASD 的个体之间的巨大异质性阻碍了生物标志物的发展。通过促进对需要支持的人进行早期诊断和个性化干预，解开 ASD 的异质性对于改善 ASD 患者的生活质量至关重要。在这篇综述中，我们讨论了神经影像学的最新进展，这些进展使用 3 个框架促进了对这种情况的异质性的表征：神经亚型、维度模型和规范模型。我们还讨论了这 3 个框架的挑战、可能的解决方案和临床效用。我们认为，在使用神经影像学解析异质性时需要考虑几个因素，包括共存病症、神经发育、遗传和环境以及多站点和多模态数据。最后，我们讨论了更好地理解神经发育异质性背后的神经机制以及 ASD 精准医学的未来未来。