外周生物标志物对神经发育障碍性疾病的诊断价值

Diagnostic value of peripheral blood biomarkers in neurodevelopmental disorders

摘要

神经发育障碍是一类严重影响儿童健康的慢性疾病,在临床上有较高的患病率,其病因及发病机制尚不完全明确,且易合并其他共患病,导致临床诊断困难。国内现行诊断体系主要依赖临床和行为评估,其存在主观、诊断延迟、资源限制等诸多弊端。这些挑战凸显了对客观生物标志物的迫切需求,以实现精确和及时的临床决策。相对于需有创操作获取的生物标志物,通过微创或无创操作获取外周生物样本显得更加安全、经济、可行,且唾液、尿液、粪便等已成为近期研究热点引起广泛关注。本文将对常见儿童神经发育障碍类疾病的外周生物标志物进行综述。

Abstract

Neurodevelopmental disorders are a group of chronic conditions that severely affect children's health and are associated with a high clinical prevalence. Their etiology and pathogenesis remain incompletely understood, and frequent comorbidities further complicate clinical diagnosis. In China, the current diagnostic system mainly relies on expert clinical judgment and behavioral assessment, which is limited by subjectivity, delayed diagnosis, and resource constraints. These challenges underscore the urgent need for objective biomarkers to support accurate and timely clinical decision-making. Compared with biomarkers obtained through invasive procedures,minimally invasive or nonivasive peripheral biospecimens is relatively safe, economical, and feasible for clinical application. Meanwhile, such as saliva, urine, and feces, have also emerged as major focuses of recent research and attracted increasing attention. This review summarizes recent advances in peripheral biomarkers for pediatric neurodevelopmental disorders and discusses their potential value in early diagnosis and clinical application.

关键词

神经发育障碍性疾病 / 生物标志物 / 诊断价值

Key words

neurodevelopmental disorders / biomarkers / diagnostic value

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基金资助

国家重点研发计划(2024YFC2707800)