Abstract：
OBJECTIVE: To observe and analyse the hearing outcome in infants with mild-to-moderate sensorineural hearing loss (SNHL) who failed universal newborn hearing screening (UNHS).
METHODS: This retrospective cohort analysis included infants with mild-to-moderate SNHL and with complete etiological diagnosis and followed up over three years.
RESULTS: 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).
CONCLUSIONS: 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.
METHODS: This retrospective cohort analysis included infants with mild-to-moderate SNHL and with complete etiological diagnosis and followed up over three years.
RESULTS: 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).
CONCLUSIONS: 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.
摘要：
目的：观察和分析轻度至中度感音神经性听力损失（SNHL）未通过新生儿通用听力筛查（UNHS）的婴儿的听力结局。
方法：本回顾性队列分析包括患有轻度至中度SNHL和完全病因诊断的婴儿，并随访三年。
结果：96例轻度至中度SNHL患儿中72例稳定（75%）。只有1例正常(1.04%),改善10例(10.42%)，13例恶化(13.54%)。GJB2的致病突变是最常见的原因(50/96,52.08%),大多数为p.V37I纯合或复杂杂合突变（44/50，88％）。其中大前庭水管综合征(LVAS)11例(11.49%),有围产期危险因素9例(9.38%)。具有GJB2致病突变的婴儿和没有某些病因的婴儿大多听力水平不变，占84%(42/50)和84.61%(22/26)，分别。LVAS听力恶化与7例（63.64％）有关。围产期危险因素婴儿的结局类型没有差异，他们比其他群体更有可能改善，但有3例(33.3%)恶化为重度听力损失。不同病因结局的比较显示有统计学差异（卡方=28.673，p=0.000）。
结论：轻度至中度SNHL患儿在3岁前听力正常和改善的情况很少见，与以前的许多研究不同，建议采取适当的干预措施。然而,干预应根据听力结果进行调整，因为可能会改善或恶化。轻度至中度SNHL婴儿的病因诊断将有助于预测结局和管理干预措施。
方法：本回顾性队列分析包括患有轻度至中度SNHL和完全病因诊断的婴儿，并随访三年。
结果：96例轻度至中度SNHL患儿中72例稳定（75%）。只有1例正常(1.04%),改善10例(10.42%)，13例恶化(13.54%)。GJB2的致病突变是最常见的原因(50/96,52.08%),大多数为p.V37I纯合或复杂杂合突变（44/50，88％）。其中大前庭水管综合征(LVAS)11例(11.49%),有围产期危险因素9例(9.38%)。具有GJB2致病突变的婴儿和没有某些病因的婴儿大多听力水平不变，占84%(42/50)和84.61%(22/26)，分别。LVAS听力恶化与7例（63.64％）有关。围产期危险因素婴儿的结局类型没有差异，他们比其他群体更有可能改善，但有3例(33.3%)恶化为重度听力损失。不同病因结局的比较显示有统计学差异（卡方=28.673，p=0.000）。
结论：轻度至中度SNHL患儿在3岁前听力正常和改善的情况很少见，与以前的许多研究不同，建议采取适当的干预措施。然而,干预应根据听力结果进行调整，因为可能会改善或恶化。轻度至中度SNHL婴儿的病因诊断将有助于预测结局和管理干预措施。
