儿童隐匿性和迟发性听力损失：新生儿听力筛查的局限性及未来方向。

文献信息

中文摘要

背景/目的： 普遍新生儿听力筛查（UNHS）显著改善了先天性听力损失的早期发现；然而，出生时患病率与儿童期后期患病率之间仍存在差异。这些发现提示，由于UNHS假阴性结果，可能存在隐匿性或迟发性听力损伤形式。方法：在PubMed和Scopus中进行了2000—2026年期间的文献检索。共有103篇论文符合纳入标准。本叙述性综述综合了近期关于当前听力筛查策略局限性的文献，重点关注假阳性和假阴性筛查结果、听神经病谱系障碍（ANSD）、遗传病因以及先天性巨细胞病毒（cCMV）感染作为可能原因。重点放在漏诊的机制及其临床意义。结果：当前筛查方案，特别是基于耳声发射（OAE）的方案，可能无法检测轻度、进行性或神经性听力损失。假阴性结果常与基因突变（如GJB2）、cCMV感染和ANSD相关，而假阳性发现常与短暂性中耳疾病和早期检测时机相关。基于自动听性脑干反应（AABR）的听力筛查方法提高了对神经功能障碍的检测，但受听觉通路成熟度影响，这可能使生命早期结果的解读复杂化。证据表明，儿童期后期发现的相当一部分感音神经性听力损失在出生时可能无法通过现有方案检测到。结论：隐匿性和迟发性感音神经性听力损失是当前UNHS项目的重大挑战和局限。优化筛查策略——包括更广泛实施AABR、整合遗传和cCMV检测，以及审慎考虑筛查时机——可能改善听力损失的早期发现并减少长期发育后果。国际指南的未来更新应解决这些差距，以提高诊断准确性和临床结局。

英文摘要

Background/Objectives: Universal newborn hearing screening (UNHS) has significantly improved early detection of congenital hearing loss; however, discrepancies persist between prevalence at birth and latter childhood. These findings suggest the presence of hidden or delayed-onset forms of hearing impairments as a consequence of false-negative UNHS results. Methods: A bibliographic search was conducted in PubMed and Scopus for the period 2000-2026. A total of 103 papers met the inclusion criteria. This narrative review synthesizes recent literature on the limitations of current hearing screening strategies, focusing on false-positive and false-negative screening results, auditory neuropathy spectrum disorder (ANSD), genetic etiologies, and congenital cytomegalovirus (cCMV) infection as potential causes. Emphasis is placed on mechanisms underlying missed diagnoses and their clinical implications. Results: Current screening protocols, particularly those based on otoacoustic emissions (OAE), may fail to detect mild, progressive, or neural hearing loss. False-negative results are frequently associated with genetic mutations (e.g., GJB2), cCMV infection, and ANSD, whereas false-positive findings are often associated with transient middle ear conditions and early timing of testing. Automated auditory brainstem responses (AABR)-based approaches for hearing screening improve detection of neural dysfunction but are influenced by auditory pathway maturation, which may complicate interpretation of results in early life. Evidence indicates that a substantial proportion of sensorineural hearing loss identified later in childhood may not be detectable at birth using existing protocols. Conclusions: Hidden and delayed-onset sensorineural hearing loss represent significant challenges and limitations of current UNHS programs. Optimization of screening strategies-including broader implementation of AABR, integration of genetic and cCMV testing, and careful consideration of screening timing-may improve early detection of hearing loss and reduce long-term developmental consequences. Future updates of international guidelines should address these gaps to enhance diagnostic accuracy and clinical outcomes.