PLA2G6 相关神经变性患儿的听力发现。

IF 1 4区医学 Q3 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY

Journal of the American Academy of Audiology Pub Date : 2022-06-01 Epub Date: 2022-06-15 DOI:10.1055/a-1877-2546

Valiyaparambath Purushothaman Vandana, Jeevendra Kumar Darshini, Bindu Parayil Sankaran

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引用次数: 0

摘要

背景：PLA2G6相关神经变性患者的听力表现有限：PLA2G6 相关神经变性患者的听力表现有限：分析13名婴儿神经轴性营养不良症（ininfile neuroaxonal dystrophy，INAD）患儿的听力检查结果：患者接受了一系列听力测试，包括鼓室测听、畸变产物耳声发射、阻抗测听和脑干听觉诱发电位（BAEPs）：结果：13 名儿童中有 10 人（77%）的听力检查结果显示异常。结果：13 名儿童中有 10 名（77%）听力检查结果显示异常，其中 6 名儿童患有感音神经性听力损失，4 名儿童患有听觉神经病谱障碍：结论：本研究可扩展听觉检查结果对INAD的影响。在对听力康复提出适当建议之前，还需要对与该疾病相关的生活质量和认知脑退化进行更多研究。

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Audiological Findings in Children with PLA2G6-Associated Neurodegeneration.

Background: Audiological manifestations of patients with PLA2G6-associated neurodegeneration are limited.

Objective: To analyze the audiological findings in a cohort of 13 children with infantile neuroaxonal dystrophy (INAD).

Method: Patients underwent a battery of audiological tests including tympanometry, distortion product otoacoustic emissions, impedance audiometry, and Brainstem Auditory Evoked Potentials (BAEPs).

Results: Audiological studies of 13 children indicated sensorineural hearing loss in six children and auditory neuropathy spectrum disorder in four children.

Conclusion: This study may extend the auditory findings for INAD. Additional studies on quality of life and cognitive-brain degeneration related to this disease are required before making appropriate recommendations for aural rehabilitation.

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来源期刊

Journal of the American Academy of Audiology 医学-耳鼻喉科学

CiteScore

3.10

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal of the American Academy of Audiology (JAAA) is the Academy''s scholarly peer-reviewed publication, issued 10 times per year and available to Academy members as a benefit of membership. The JAAA publishes articles and clinical reports in all areas of audiology, including audiological assessment, amplification, aural habilitation and rehabilitation, auditory electrophysiology, vestibular assessment, and hearing science.