National Heart and Lung Institute, Imperial College London, London, UK.
Pediatr Allergy Immunol. 2023 Dec;34(12):e14062. doi: 10.1111/pai.14062.
Preschool wheezing and childhood asthma create a heavy disease burden which is only exacerbated by the complexity of the conditions. Preschool wheezing exhibits both "curricular" and "aetiological" heterogeneity: that is, heterogeneity across patients both in the time-course of its development and in its underpinning pathological mechanisms. Since these are not fully understood, but clinical presentations across patients may nonetheless be similar, current diagnostic labels are imprecise-not mapping cleanly onto underlying disease mechanisms-and prognoses uncertain. These uncertainties also make a identifying new targets for therapeutic intervention difficult. In the past few decades, carefully designed birth cohort studies have collected "big data" on a large scale, incorporating not only a wealth of longitudinal clinical data, but also detailed information from modalities as varied as imaging, multiomics, and blood biomarkers. The profusion of big data has seen the proliferation of what we term "modern data approaches" (MDAs)-grouping together machine learning, artificial intelligence, and data science-to make sense and make use of this data. In this review, we survey applications of MDAs (with an emphasis on machine learning) in childhood wheeze and asthma, highlighting the extent of their successes in providing tools for prognosis, unpicking the curricular heterogeneity of these conditions, clarifying the limitations of current diagnostic criteria, and indicating directions of research for uncovering the etiology of the diseases underlying these conditions. Specifically, we focus on the trajectories of childhood wheeze phenotypes. Further, we provide an explainer of the nature and potential use of MDAs and emphasize the scope of what we can hope to achieve with them.
幼儿喘息和儿童哮喘会造成严重的疾病负担,而这些疾病的复杂性只会使情况更加恶化。幼儿喘息表现出“课程”和“病因”异质性:即,患者在其发展过程中的时间进程以及潜在病理机制方面存在异质性。由于这些机制尚未完全了解,但患者的临床表现可能仍然相似,因此目前的诊断标签并不精确——无法清晰地映射到潜在的疾病机制上,预后也不确定。这些不确定性也使得确定新的治疗靶点变得困难。在过去的几十年中,精心设计的出生队列研究已经大规模地收集了关于喘息和哮喘的“大数据”,不仅包括大量的纵向临床数据,还包括来自成像、多组学和血液生物标志物等多种模式的详细信息。大数据的泛滥使得我们所谓的“现代数据方法”(MDAs)大量涌现——将机器学习、人工智能和数据科学结合在一起,以便理解和利用这些数据。在这篇综述中,我们调查了 MDAs(重点是机器学习)在儿童喘息和哮喘中的应用,强调了它们在提供预后工具、揭示这些疾病的课程异质性、阐明当前诊断标准的局限性以及为揭示这些疾病潜在病因提供研究方向方面的成功程度。具体来说,我们专注于儿童喘息表型的轨迹。此外,我们还解释了 MDA 的性质和潜在用途,并强调了我们可以期望通过它们实现的范围。