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Related Experiment Video

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Systematic Hearing Performance Evaluation Process for Adolescents with Cochlear Implantation at Early Ages
06:04

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Published on: March 24, 2023

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Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.

Chen-Chi Wu1, Yin-Hung Lin, Tien-Chen Liu

  • 1From Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan (C-CW, Y-HL, T-CL, K-NL, C-JH); Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan (C-CW, W-SY, P-LC); Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan (Y-HL, P-LC); Department of Otolaryngology, Cardinal Tien Hospital, New Taipei, Taiwan (K-NL); Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan (W-SY, P-LC); Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan (W-SY, P-LC); Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipei, Taiwan (W-SY, P-LC); Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan (C-JH); and Department of Otolaryngology, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan (C-MW).

Medicine
|July 14, 2015
PubMed
Summary

Genetic variants in PCDH15 and DFNB59 are linked to poor cochlear implant outcomes in children. Genetic testing before implantation is recommended for all candidates.

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Area of Science:

  • Genetics
  • Otolaryngology
  • Pediatrics

Background:

  • Cochlear implantation (CI) is a primary treatment for severe to profound hearing loss in children.
  • Outcomes following cochlear implantation vary significantly among pediatric recipients.
  • Identifying genetic factors influencing CI success is crucial for personalized treatment.

Purpose of the Study:

  • To investigate genetic determinants associated with suboptimal outcomes in pediatric cochlear implant recipients.
  • To correlate specific genetic variants with audiological, imaging, and performance data in children with poor CI results.

Main Methods:

  • Comprehensive genetic analysis using massively parallel sequencing of 129 known deafness genes.
  • Comparison of genetic profiles between children with poor CI outcomes (cases) and those with good outcomes (controls).
  • Correlation of audiological features, imaging, and CI performance with identified genetic diagnoses.

Main Results:

  • Genetic variants linked to poor CI outcomes were found in 58% of cases.
  • Bi-allelic PCDH15 mutations and homozygous DFNB59 p.G292R variants were identified in cases.
  • Higher allele frequencies of PCDH15 and DFNB59 variants were observed in cases compared to controls (P < 0.001).
  • Children with PCDH15 or DFNB59 variants exhibited absent otoacoustic emissions and normal imaging, yet poor CI performance.

Conclusions:

  • PCDH15 and DFNB59 variants are significantly associated with poor cochlear implant performance in children.
  • Genetic screening for PCDH15 and DFNB59 variants is recommended for all cochlear implant candidates prior to surgery.
  • Pre-operative genetic analysis can aid in predicting CI outcomes and guiding treatment strategies.