Development of the guideline for appropriate hearing implants use based on causal diagnosis

2021 Fiscal Year Final Research Report

• Project/Area Number: 18K09374
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56050:Otorhinolaryngology-related
• Research Institution: International University of Health and Welfare
• Principal Investigator: Iwasaki Satoshi 国際医療福祉大学, 医学部, 教授 (00232653)
• Project Period (FY): 2018-04-01 – 2022-03-31
• Keywords: 人工内耳 / 難聴遺伝子検査

Outline of Final Research Achievements

Cochlear implantation (CI) provides a good outcome in the majority of cases, some individual differences in outcome exist. Among the various factors affecting the outcomes of CI, genetic factors are known to be one of the most important to consider. Genetic disorders are known to be the most common cause of congenital/early-onset sensorineural hearing loss and are also involved in a considerable proportion of cases of late-onset hearing loss. When etiology is located within the cochlea, there is a potential for good CI performance. Therefore, it is essential to determine which region of the cochlea is affected by identification of the responsible genes. In this study, we performed genetic testing for 87 patients receiving CI. For genetic analysis, patients were screened for 63 known deafness genes, with gene mutations that cause hearing loss identified in about 25% (22/87).

Free Research Field

耳鼻咽喉科

Academic Significance and Societal Importance of the Research Achievements

人工内耳症例における遺伝的背景を検討した結果、多くの患者に遺伝子が関与していることが明らかになった。特に言語習得前発症症例においては原因遺伝子変異の同定率が高く、遺伝学的検査は正確な診断に基づく治療を進める上で必須の検査であることが再確認された。また、遺伝学的検査によって原因が特定され内耳に原因があることが確認された症例については人工内耳によって良好な術後成績が得られる可能性が高く、治療法の選択において有用な情報となると考えられた。