具有不同的病因和临床特征,小儿听觉神经病变谱系障碍(ANSD)的管理通常具有挑战性,人工耳蜗(CI)的结果是可变的。本研究旨在调查不同病因的ANSD患儿的CI结局。纳入了2001年至2021年间接受人工耳蜗植入的36名ANSD儿童。进行了全面的病因分析,包括历史回顾,基于下一代测序的基因检查,以及使用高分辨率计算机断层扫描和磁共振成像的成像研究。在手术前后进行连续的行为和言语测听,使用听觉表现类别(CAP)和语音清晰度等级(SIR)评分评估CI的结果。按病因,18、1、1和10例患者有OTOF相关,WFS1相关,OPA1相关,和耳蜗神经缺陷(CND)相关的ANSD,分别。6例患者无明确病因。平均CI辅助行为阈值为28.3±7.8dBHL,与CND相关的ANSD比OTOF相关的ANSD更差。患者的CAP和SIR评分中位数分别为6分和4分。在具有某些病因的ANSD患者中观察到有利的CI结果,特别是那些有OTOF的(CAP/SIR得分5-7/2-5),WFS1(CAP/SIR评分6/5),和OPA1变体(CAP/SIR评分7/5)。CND患者具有次优CI结果(CAP/SIR评分2-6/1-3)。确定ANSD患者的病因在手术前至关重要,可以帮助预测预后。
With diverse etiologies and clinical features, the management of pediatric auditory neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear implants (CIs) are variable. This study aimed to investigate CI outcomes in pediatric patients with ANSD of different etiologies. Thirty-six children with ANSD who underwent cochlear implantation between 2001 and 2021 were included. Comprehensive etiological analyses were conducted, including a history review, next-generation sequencing-based genetic examinations, and imaging studies using high-resolution computed tomography and magnetic resonance imaging. Serial behavioral and speech audiometry were performed before and after surgery, and the outcomes with CI were evaluated using the Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores. By etiology, 18, 1, 1, and 10 patients had
OTOF-related, WFS1-related, OPA1-related, and cochlear nerve deficiency (CND)-related ANSD, respectively. Six patients had no definite etiology. The average CI-aided behavioral threshold was 28.3 ± 7.8 dBHL, and those with CND-related ANSD were significantly worse than
OTOF-related ANSD. The patients\' median CAP and SIR scores were 6 and 4, respectively. Favorable CI outcomes were observed in patients with certain etiologies of ANSD, particularly those with
OTOF (CAP/SIR scores 5-7/2-5), WFS1 (CAP/SIR score 6/5), and OPA1 variants (CAP/SIR score 7/5). Patients with CND had suboptimal CI outcomes (CAP/SIR scores 2-6/1-3). Identifying the etiologies in ANSD patients is crucial before surgery and can aid in predicting prognoses.