普遍新生儿听力筛查时代的儿童听力损失：病因、风险指标和临床表型。

文献信息

中文摘要

背景： 儿童听力损失对发育和公共健康构成重大挑战，影响语言习得、认知发展、社会参与和教育成果。普遍新生儿听力筛查（UNHS）显著提高了先天性听力损失的早期识别，但仍存在局限性。轻度、单侧、迟发性、进行性以及某些神经性听力损失可能在单次新生儿筛查中未被发现。本综述综合了在UNHS背景下关于儿童听力损失病因、风险指标和临床特征的当前证据。重点领域包括遗传原因和药物遗传易感性、先天性巨细胞病毒感染、宫内营养和代谢状况、环境和生活方式暴露，以及围产期或新生儿重症监护室相关风险，如早产、高胆红素血症、缺氧、感染和耳毒性药物暴露。这些因素表现出不同的临床意义：有些是听力损失的直接原因，而另一些则表明对迟发性或进行性听觉功能障碍的易感性增加。证据强调了儿童听力损失的发展视角，表明听觉风险可能在出生后出现，不能仅凭正常的新生儿筛查结果排除。区分病因、风险指标和临床表型可能有助于识别需要加强筛查后监测的儿童。未来的研究应旨在完善因果证据、基因型-表型相关性以及基于风险的随访可行策略。

英文摘要

Childhood hearing loss poses significant developmental and public health challenges, impacting language acquisition, cognitive development, social participation, and educational outcomes. Universal newborn hearing screening (UNHS) has notably enhanced the early identification of congenital hearing loss, yet limitations persist. Mild, unilateral, delayed-onset, progressive, and certain neural forms of hearing loss may remain undetected during a single neonatal screening session. This review consolidates current evidence regarding the etiologies, risk indicators, and clinical features of pediatric hearing loss in the context of UNHS. Essential areas of focus encompass genetic causes and pharmacogenetic susceptibility, congenital cytomegalovirus infection, intrauterine nutritional and metabolic conditions, environmental and lifestyle exposures, alongside perinatal or neonatal intensive care unit-related risks such as prematurity, hyperbilirubinemia, hypoxia, infection, and exposure to ototoxic medications. These factors exhibit varied clinical implications: some serve as direct causes of hearing loss, while others signify heightened vulnerability to delayed-onset or progressive auditory dysfunction. The evidence highlights a developmental perspective on pediatric hearing loss, indicating that auditory risks may emerge postnatally and cannot be ruled out based solely on normal newborn screening results. Distinguishing between etiology, risk indicators, and clinical phenotype may enhance the identification of children requiring intensified post-screening monitoring. Future research should aim to refine causal evidence, genotype-phenotype correlations, and viable strategies for risk-based follow-up.