BACKGROUND Congenital hearing loss (HL), one of the most common paediatric chronic conditions, significantly affects speech and language development. Its early diagnosis and medical intervention can be achieved via newborn hearing screening. However, data on the prevalence and aetiology of congenital HL in infants who fail newborn hearing screening are limited. METHODS The sample population included 153 913 infants who underwent newborn hearing screening, and the prevalence of congenital HL, defined as moderate to profound bilateral HL (BHL) or unilateral HL (UHL) (≥40 dB HL), in one prefecture of Japan was measured to minimize the loss-to-follow-up rate, a common factor affecting the screening procedure. Comprehensive aetiological investigation, including physiology, imaging, genetic tests, and congenital cytomegalovirus screening, was performed on children diagnosed with congenital HL. RESULTS The calculated prevalence of congenital HL was 1.62 per 1000 newborns (bilateral, 0.84; unilateral, 0.77). More than half of the cases with congenital bilateral or severe to profound UHL showed genetic aetiology or cochlear nerve deficiency (CND), respectively. Approximately 4% and 6% of the cases of congenital BHL and UHL were associated with congenital cytomegalovirus infection and auditory neuropathy spectrum disorder, respectively. CONCLUSIONS This is an epidemiological and comprehensive aetiological study of congenital HL, as determined via newborn hearing screening according to its severity and laterality, in a large-scale general population of a developed country. Our findings can serve as a reference for optimizing care and intervention options for children with HL and their families.

中文翻译：

---

通过对 153 913 名新生儿进行听力筛查进行先天性听力损失的流行病学、病因学和诊断。


背景先天性听力损失（HL）是最常见的儿科慢性疾病之一，显着影响言语和语言发育。其早期诊断和医疗干预可以通过新生儿听力筛查来实现。然而，有关未通过新生儿听力筛查的婴儿先天性 HL 的患病率和病因学的数据有限。方法 样本人群包括 153 913 名接受新生儿听力筛查的婴儿，日本一个县先天性 HL（定义为中度至重度双侧 HL (BHL) 或单侧 HL (UHL) (≥40 dB HL)）的患病率是旨在最大限度地减少失访率，失访率是影响筛查程序的常见因素。对诊断为先天性 HL 的儿童进行了全面的病原学调查，包括生理学、影像学、基因检测和先天性巨细胞病毒筛查。结果 计算出的先天性 HL 患病率为每 1000 名新生儿 1.62 例（双侧，0.84；单侧，0.77）。超过一半的先天性双侧 UHL 病例或严重至深度 UHL 病例分别表现出遗传病因或耳蜗神经缺陷 (CND)。大约 4% 和 6% 的先天性 BHL 和 UHL 病例分别与先天性巨细胞病毒感染和听神经病谱系障碍相关。结论 这是一项先天性 HL 的流行病学和综合病因学研究，通过新生儿听力筛查根据其严重程度和偏侧性确定，在发达国家的大规模普通人群中进行。我们的研究结果可以作为优化 HL 儿童及其家庭的护理和干预方案的参考。