Department of Otolaryngology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, PR China.
Department of Otolaryngology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, PR China.
Int J Pediatr Otorhinolaryngol. 2023 Oct;173:111697. doi: 10.1016/j.ijporl.2023.111697. Epub 2023 Aug 10.
To observe and analyse the hearing outcome in infants with mild-to-moderate sensorineural hearing loss (SNHL) who failed universal newborn hearing screening (UNHS).
This retrospective cohort analysis included infants with mild-to-moderate SNHL and with complete etiological diagnosis and followed up over three years.
Out of 96 infants with mild-to-moderate SNHL 72 were stable (75%). Only one case was normal (1.04%), ten cases were improved (10.42%), and 13 were deteriorated (13.54%). The pathogenic mutation of GJB2 was the most common cause (50/96, 52.08%), and most of them were homozygous or complex heterozygous mutations of p.V37I (44/50, 88%). There were 11 cases (11.49%) with large vestibular aqueduct syndrome (LVAS) and nine cases (9.38%) with perinatal risk factors. Infants with GJB2 pathogenic mutation and those without certain etiology mostly had unchanged hearing levels, accounting for 84% (42/50) and 84.61% (22/26), respectively. Hearing deterioration in LVAS was associated with seven cases (63.64%). There was no difference in types of outcomes in perinatal risk factor infants, who were more likely to improve than the other groups, but there were three cases (33.3%) deteriorated to profound hearing loss. Comparison of outcomes of different etiologies showed statistically significant difference (Chi-square = 28.673, p = 0.000).
Normal and improved hearing in infants with mild-to-moderate SNHL was rare before the age of three, unlike in many previous studies, and appropriate intervention is recommended. However, intervention should be adjusted according to the hearing outcomes because of the possibility of improvement or deterioration. The etiological diagnosis of infants with mild-to-moderate SNHL would be helpful for predicting the outcome and managing intervention.
观察并分析未通过普遍新生儿听力筛查（UNHS）的轻-中度感音神经性听力损失（SNHL）婴儿的听力结果。
本回顾性队列分析纳入了轻-中度 SNHL 且病因诊断完整并随访超过 3 年的婴儿。
96 例轻-中度 SNHL 婴儿中，72 例稳定（75%）。仅有 1 例正常（1.04%），10 例改善（10.42%），13 例恶化（13.54%）。GJB2 致病性突变是最常见的病因（50/96，52.08%），其中大多数为 p.V37I 纯合或复合杂合突变（44/50，88%）。11 例（11.49%）患有大前庭水管综合征（LVAS），9 例（9.38%）有围产期危险因素。GJB2 致病性突变和无明确病因的婴儿听力水平大多无变化，分别占 84%（42/50）和 84.61%（22/26）。LVAS 听力恶化与 7 例有关（63.64%）。围产期危险因素婴儿的结局类型无差异，其更有可能改善，但有 3 例（33.3%）恶化至重度听力损失。不同病因结局比较差异有统计学意义（卡方=28.673，p=0.000）。
与许多先前的研究不同，3 岁之前轻-中度 SNHL 婴儿的正常和改善听力罕见，建议进行适当的干预。然而，由于可能会改善或恶化，干预措施应根据听力结果进行调整。对轻-中度 SNHL 婴儿进行病因诊断有助于预测结果和管理干预。
