听神经病谱系障碍诊断技术应用1例

A Case Study of the Technologial Application to the Diagnosis of Auditory Neuropathy Spectrum Disorder

目的探讨听神经病谱系障碍(auditory neuropathy spectrum disorder,ANSD)诊断技术的应用。方法对一例纯音听阈接近正常的ANSD病例进行回顾性分析探讨。结果接近正常的纯音听阈不能正确反映出此ANSD患者日常生活中的听觉障碍。基于双侧存在耳声发射(OAEs)且听性脑干反应(ABR)中双侧的V波阈值异常升高,患者被诊断为双侧ANSD。结论患者有接近正常的纯音听阈却存在言语识别困难时,建议排查ANSD。OAEs和ABR是当前诊断ANSD的核心技术。听力学技术联合基因检测技术与下一代的医学影像技术将实现对ANSD病变位点的精准定位。

Objective To discuss the application of diagnostic technologies to test auditory neuropathy spectrum disorder （ANSD）. Methods A retrospective case study was conducted on an ANSD patient with nearly normal pure tone thresholds. Results Nearly normal pure tone thresholds could not correctly predict the hearing difficulties this ANSD patient was experienced in daily life. Based on bilaterally present otoacoustic emissions （OAEs） and bilaterally abnormally elevated Wave V thresholds in auditory brainstem response （ABR）, the patient was diagnosed with bilateral ANSD. Conclusion When a patient has nearly normal pure tone thresholds but difficulties in speech recognition, it is recommended to exclude ANSD. OAEs and ABR are currently core technologies to diagnose ANSD. It can be predicted that audiological diagnostic tools together with increasingly sophisticated genetic testing techniques and the next generation of medical imaging technologies will achieve precise identification of specific sites of lesion in ANSD.