https://scholars.lib.ntu.edu.tw/handle/123456789/628625
標題: | Comprehensive Etiologic Analyses in Pediatric Cochlear Implantees and the Clinical Implications | 作者: | Lee, Chee-Yee PEI-HSUAN LIN Tsai, Cheng-Yu Chiang Yu-ting Chiou, Hong-Ping Chiang, Ko-Yin PEI-LUNG CHEN Jacob Shujui Hsu TIEN-CHEN LIU Wu, Hung-Pin CHEN-CHI WU Hsu, Chuan-Jen |
關鍵字: | cochlear implant; genetic diagnosis; next generation sequencing; sensorineural hearing impairment | 公開日期: | 31-七月-2022 | 出版社: | MDPI | 卷: | 10 | 期: | 8 | 來源出版物: | Biomedicines | 摘要: | Cochlear implantation is the treatment of choice for children with profound sensorineural hearing impairment (SNHI), yet the outcomes of cochlear implants (CI) vary significantly across individuals. To investigate the CI outcomes in pediatric patients with SNHI due to various etiologies, we prospectively recruited children who underwent CI surgery at two tertiary referral CI centers from 2010 to 2021. All patients underwent comprehensive history taking, next generation sequencing (NGS)-based genetic examinations, and imaging studies. The CI outcomes were evaluated using Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores. Of the 160 pediatric cochlear implantees (76 females and 84 males) included in this study, comprehensive etiological work-up helped achieve clinical diagnoses in 83.1% (133/160) of the patients, with genetic factors being the leading cause (61.3%). Imaging studies identified certain findings in 31 additional patients (19.3%). Four patients (2.5%) were identified with congenital cytomegalovirus infection (cCMV), and 27 patients (16.9%) remained with unknown etiologies. Pathogenic variants in the four predominant non-syndromic SNHI genes (i.e., SLC26A4, GJB2, MYO15A, and OTOF) were associated with favorable CI outcomes (Chi-square test, p = 0.023), whereas cochlear nerve deficiency (CND) on imaging studies was associated with unfavorable CI outcomes (Chi-square test, p < 0.001). Our results demonstrated a clear correlation between the etiologies and CI outcomes, underscoring the importance of thorough etiological work-up preoperatively in pediatric CI candidates. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85137350217&doi=10.3390%2fbiomedicines10081846&partnerID=40&md5=7413e4b16717694a18712cedf6e7dc29 https://scholars.lib.ntu.edu.tw/handle/123456789/628625 |
ISSN: | 2227-9059 | DOI: | 10.3390/biomedicines10081846 |
顯示於: | 基因體暨蛋白體醫學研究所 |
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