Loth Eva
Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Front Psychiatry. 2023 Feb 22;14:1085445. doi: 10.3389/fpsyt.2023.1085445. eCollection 2023.
Over the past decade, precision medicine has become one of the most influential approaches in biomedical research to improve early detection, diagnosis, and prognosis of clinical conditions and develop mechanism-based therapies tailored to individual characteristics using biomarkers. This perspective article first reviews the origins and concept of precision medicine approaches to autism and summarises recent findings from the first "generation" of biomarker studies. Multi-disciplinary research initiatives created substantially larger, comprehensively characterised cohorts, shifted the focus from group-comparisons to individual variability and subgroups, increased methodological rigour and advanced analytic innovations. However, although several candidate markers with probabilistic value have been identified, separate efforts to divide autism by molecular, brain structural/functional or cognitive markers have not identified a validated diagnostic subgroup. Conversely, studies of specific monogenic subgroups revealed substantial variability in biology and behaviour. The second part discusses both conceptual and methodological factors in these findings. It is argued that the predominant reductionist approach, which seeks to parse complex issues into simpler, more tractable units, let us to neglect the interactions between brain and body, and divorce individuals from their social environment. The third part draws on insights from systems biology, developmental psychology and neurodiversity approaches to outline an integrative approach that considers the dynamic interaction between biological (brain, body) and social mechanisms (stress, stigma) to understanding the origins of autistic features in particular conditions and contexts. This requires 1) closer collaboration with autistic people to increase face validity of concepts and methodologies; (2) development of measures/technologies that enable repeat assessment of social and biological factors in different (naturalistic) conditions and contexts, (3) new analytic methods to study (simulate) these interactions (including emergent properties), and (4) cross-condition designs to understand which mechanisms are transdiagnostic or specific for particular autistic sub-populations. Tailored support may entail both creating more favourable conditions in the social environment and interventions for some autistic people to increase well-being.
在过去十年中,精准医学已成为生物医学研究中最具影响力的方法之一,旨在改善临床疾病的早期检测、诊断和预后,并利用生物标志物开发针对个体特征的基于机制的疗法。这篇观点文章首先回顾了自闭症精准医学方法的起源和概念,并总结了第一代生物标志物研究的最新发现。多学科研究计划创建了规模更大、特征更全面的队列,将重点从群体比较转向个体差异和亚组,提高了方法的严谨性并推进了分析创新。然而,尽管已经确定了几个具有概率价值的候选标志物,但通过分子、脑结构/功能或认知标志物对自闭症进行分类的单独努力尚未确定一个经过验证的诊断亚组。相反,对特定单基因亚组的研究揭示了生物学和行为方面的巨大差异。第二部分讨论了这些发现中的概念和方法学因素。有人认为,占主导地位的还原论方法试图将复杂问题分解为更简单、更易于处理的单元,这让我们忽视了大脑与身体之间的相互作用,并使个体与其社会环境脱节。第三部分借鉴系统生物学、发展心理学和神经多样性方法的见解,概述了一种综合方法,该方法考虑生物(大脑、身体)和社会机制(压力、污名)之间的动态相互作用,以理解特定条件和背景下自闭症特征的起源。这需要:(1)与自闭症患者更密切合作,以提高概念和方法的表面效度;(2)开发能够在不同(自然主义)条件和背景下重复评估社会和生物因素的测量方法/技术;(3)研究(模拟)这些相互作用(包括涌现特性)的新分析方法;(4)跨条件设计,以了解哪些机制是跨诊断的或特定于特定自闭症亚群体的。量身定制的支持可能既需要在社会环境中创造更有利的条件,也需要对一些自闭症患者进行干预以提高幸福感。