Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology (Record no. 2741)
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| 000 -LEADER | |
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| fixed length control field | nam a22 7a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20170519142246.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 170519b xxu||||| |||| 00| 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Transcribing agency | National Acoustics Laboratories |
| 245 ## - TITLE STATEMENT | |
| Title | Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology |
| 520 3# - SUMMARY, ETC. | |
| Summary, etc | bout 60% of Korean pediatric cochlear implantees could be<br/>genetically diagnosed (GD) and we previously reported that a substantial<br/>portion of undiagnosed cases by deafness gene panel sequencing were<br/>predicted to have a nongenetic or complex etiology. We aimed to compare<br/>the outcomes of cochlear implantation (CI) in GD and genetically<br/>undiagnosed (GUD) patients and attempted to determine CI outcomes<br/>according to etiology.<br/>Design: Ninety-three pediatric cochlear implantees underwent molecular<br/>genetic testing. Fifty-seven patients carried pathogenic variants and 36<br/>patients remained GUD after panel sequencing of 204 known or potential<br/>deafness genes (TRS-204). Among them, 55 cochlear implantees<br/>with reliable speech evaluation results with a follow-up of longer than<br/>24 months were recruited. Longitudinal changes in the audiologic performance<br/>were compared between the GD (n = 31) and GUD (n = 24)<br/>groups. The GD group was subdivided into cochlear implantee with<br/>SLC26A4 mutations (group 1) and cochlear implantee with other genetic<br/>etiology (group 2), and the GUD group was subdivided into groups 3<br/>and 4, that is, patients with or without inner ear anomaly, respectively.<br/>Results: Group 1 related to SLC26A4 mutations had the highest categories<br/>of auditory perception scores among all groups pre- and postoperatively.<br/>Group 4 with inner ear anomaly had the lowest categories<br/>of auditory perception scores. At 24 months post-CI, the group 2<br/>with another genetic etiology had significantly better outcomes than<br/>molecularly undiagnosed group 3, which had with the same condition<br/>as group 2 except that the candidate gene was not detected. This finding<br/>was recapitulated when we limited cases to those that underwent CI<br/>before 24 months of age to minimize age-related bias at implantation.<br/>Furthermore, on extending the follow-up to 36 months postoperatively,<br/>this tendency became more prominent. Additionally, our preliminary<br/>clinical data suggest a narrower sensitive window period for good CI<br/>outcomes for implantees with OTOF mutation rather than the GJB2 and<br/>other genes.<br/>Conclusions: Current molecular genetic testing including deafness<br/>panel sequencing helps to predict the 2-year follow-up outcomes after<br/>CI in prelingually deafened children. GD cochlear implantees show better<br/>functional outcomes after CI than undiagnosed cochlear implantees as<br/>determined by deafness panel sequencing, suggesting a genotype-functional<br/>outcome correlation. The genetic testing may provide a customized<br/>optimal window period in terms of CI timing for favorable outcome<br/>according to genetic etiology. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Cochlear implantation, Deafness, Molecular genetic test, Targeted resequencing. |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joo Hyun Park, |
| 773 0# - HOST ITEM ENTRY | |
| Relationship information | VOL. XX, NO. X, XXX–XXX (2017) |
| Title | EAR & HEARING |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://dspace.nal.gov.au/xmlui/bitstream/handle/123456789/681/Outcome%20of%20Cochlear%20Implantation%20in%20Prelingually.pdf?sequence=1&isAllowed=y">https://dspace.nal.gov.au/xmlui/bitstream/handle/123456789/681/Outcome%20of%20Cochlear%20Implantation%20in%20Prelingually.pdf?sequence=1&isAllowed=y</a> |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Universal Decimal Classification |
| Koha item type | Journal article |
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