| Project/Area Number |
18K16890
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 56050:Otorhinolaryngology-related
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| Research Institution | Okayama University |
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Principal Investigator |
Sugaya Akiko 岡山大学, 大学病院, 助教 (20600224)
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| Project Period (FY) |
2018-04-01 – 2024-03-31
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| Project Status |
Completed (Fiscal Year 2023)
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| Budget Amount *help |
¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Fiscal Year 2020: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Keywords | 音韻障害 / 遺伝学的検査 / 言語発達 / 人工内耳 / トリオ解析 / 高度難聴 / 難聴 / 遺伝子解析 / 難聴児 |
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| Outline of Final Research Achievements |
Hearing threshold wearing cochlear implant (CI), genetic testing results, and the number of words and intelligibility of speech at the age of 5 years old for children with CI who had poor language development after CI surgery and were suspected to have phonological disorders were examined. There were 10 cases (4.81%) out of 208 cases, and 2 of the 8 families had sibling cases. Genetic testing was performed in all cases, and GJB2 mutations were detected in 6 cases (60%). The hearing threshold with CI was 35.26 ± 4.45 dB. The median number of words in the expressed vocabulary was 1773, whereas in the phonological disorder children was 614.57 ± 495.48, and the speech intelligibility was 63.03 ± 11.55%, indicating that the articulation was poor.
Furthermore, a trio analysis of two families of CI children with phonological defects was conducted, and in one family, a candidate causative gene involved in signal transduction was detected.
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| Academic Significance and Societal Importance of the Research Achievements |
当研究では、音韻障害を有する難聴児の5歳時点での言語発達の特徴を検討することにより、表出語彙や構音が不良な児の中から、音韻障害を有する児を比較的早期に発見できる可能性が示唆された。また、こうした児の遺伝学的背景を明らかにすることで、言語発達に影響を及ぼす可能性のある音韻障害の早期発見を行うことが示唆されたが、具体的な遺伝子については検出されていない。
本研究は、難聴児にとって言語発達に重大な影響が及ぶと考えられる音韻障害の特徴や原因診断を行うことにより、適切な対策を考案することが可能となると考えられ、本邦の難聴児の学習や言語リハビリの目標設定が可能となり、難聴児の福祉に資する事ができる。
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