Blood‐based biomarkers continue to be explored for disease detection, monitoring of progression, and therapeutic outcomes as the diagnostic determination of Alzheimer's Disease in Down Syndrome (DS‐AD) remains challenging in clinical settings. This perspective highlights the current status of this effort. Overall, amyloid (A), tau (T), and neurodegeneration (AT[N]) blood‐based biomarkers have been shown to increase with disease pathology for individuals with DS. Phosphorylated tau biomarkers (p‐tau217, p‐tau181) have been consistently shown to track disease progression for DS‐AD and are likely good candidates for use in clinical settings. Biomarkers of inflammation (glial fibrillary acidic protein) also show promise; however, additional work is needed. Findings from stability work of blood‐based biomarkers conducted among non‐DS also support the potential longitudinal utility of biomarkers such as neurofilament light chain and p‐tau181 in DS. Gaps in our knowledge are highlighted, and a potential role for sex differences in biomarker outcomes is noted, along with recommendations for determining the appropriate context of use when translating biomarkers into clinical applications.Highlights An overview of blood‐based biomarkers for Alzheimer's disease (AD) was provided for consideration of their utility among individuals with Down syndrome when looking toward potential clinical applications. Longitudinal stability of many blood biomarkers and improvement in detection sensitivity make blood such as plasma a viable source for exploring AD pathology. Variability in reviewed findings regarding the application of blood biomarkers highlights the importance of understanding and defining the appropriate context of use, particularly when translating them into clinical practice.

中文翻译：

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唐氏综合症中的血液生物标志物：促进阿尔茨海默病的检测和监测


由于唐氏综合症 （DS-AD） 中阿尔茨海默病的诊断确定在临床环境中仍然具有挑战性，因此继续探索基于血液的生物标志物用于疾病检测、进展监测和治疗结果。此透视图突出显示了这项工作的当前状态。总体而言，淀粉样蛋白 （A）、tau （T） 和神经变性 （AT[N]） 基于血液的生物标志物已被证明会随着 DS 个体的疾病病理而增加。磷酸化的 tau 生物标志物 （p-tau217、p-tau181） 已一致证明可以跟踪 DS-AD 的疾病进展，并且可能是临床环境的良好候选者。炎症的生物标志物（神经胶质纤维酸性蛋白）也显示出前景;但是，还需要额外的工作。在非 DS 中进行的基于血液的生物标志物的稳定性工作的结果也支持生物标志物（如神经丝轻链和 p-tau181）在 DS 中的潜在纵向效用。强调了我们知识中的差距，并指出了性别差异在生物标志物结果中的潜在作用，以及在将生物标志物转化为临床应用时确定适当使用环境的建议。亮点 提供了阿尔茨海默病 （AD） 的基于血液的生物标志物的概述，以便在寻找潜在的临床应用时考虑它们在唐氏综合症患者中的效用。许多血液生物标志物的纵向稳定性和检测灵敏度的提高使血浆等血液成为探索 AD 病理学的可行来源。关于血液生物标志物应用的审查结果的可变性凸显了理解和定义适当的使用环境的重要性，尤其是在将其转化为临床实践时。