Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review

Abstract

Conclusion: Most of the cases with gene mutations of intra-cochlear etiology showed relatively good CI outcomes. To progress toward more solid evidence-based CI intervention, a greater number of reports including CI outcomes for specific gene mutations are desired.

Background: Cochlear implantation (CI) is the most important and effective treatment for patients with profound sensorineural hearing loss. However, the outcomes of CI vary among patients. One of the reasons of this heterogeneous outcome for cochlear implantation is thought to be the heterogeneous nature of hearing loss. Indeed, genetic factors, the most common etiology in severe-to-profound hearing loss, might be one of the key determinants of outcomes for CI and electric acoustic stimulation (EAS). Patients with genetic causes involving an ‘intra-cochlear’ etiology show good CI/EAS outcomes. Review: This review article aimed to summarize the reports on CI/EAS outcomes in patients with special genetic causes as well as to assist in future clinical decision-making. Most of the cases were suspected of an intra-cochlear etiology, such as those with GJB2, SLC26A4, and OTOF mutations, which showed relatively good CI outcomes. However, there have only been a limited number of reports on patients with other gene mutations.

Chinese abstract

结论 大多数耳蜗内病因基因突变的病例显示相对良好的CI结果。为了取得更多的有确凿证据为基础的CI治疗结果, 需要有更多报告, 包括特定基因突变的CI结果。

背景 耳蜗植入（CI）对于严重感觉神经性听力损失的患者是最重要和有效的治疗。然而, 对于不同患者, CI的结果是不同的。耳蜗植入的这种不同结果的原因之一被认为是听力损失的异质性质。事实上, 严重至重度听力损失最常见的病因, 即遗传因素, 可能是CI和电声刺激（EAS）效果的关键决定因素之一。具有涉及”耳蜗内”病因的遗传因素的患者显示良好的CI/EAS结果。

评论 本评论文章旨在对关于特殊遗传因素患者的CI/EAS结果的报告进行总结, 并帮助未来的临床决策。大多数病例怀疑具耳蜗内病因, 如那些有GJB2、SLC26A4和OTOF突变的病例, 显示相对良好的CI结果。然而, 关于其它基因突变患者的报告数量有限。

Keywords:

• Cochlear implantation
• electric acoustic stimulation
• GJB2
• SLC26A4
• CDH23
• OTOF
• ACTG1
• TMPRSS3
• Usher syndrome
• Waardenburg syndrome

Acknowledgements

This study was supported by a Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labour and Welfare, Japan (S.U.), a grant from the Practical Research Project for Rare/Intractable Disease from the Japan Agency for Medical Research and Development (AMED), and by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology, Japan (S.U.).

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Additional information

Funding

This study was supported by a Health and Labour Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labour and Welfare, Japan (S.U.), a grant from the Practical Research Project for Rare/Intractable Disease from the Japan Agency for Medical Research and Development (AMED), and by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology, Japan (S.U.).