title: Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
abstract: OBJECTIVE
  To investigate speech and language outcomes in children with cochlear implants (CIs) who had mutations in common deafness genes and to compare their performances with those without mutations.
  
  
  METHODS
  Prospective study.
  
  
  METHODS
  Patients who received CIs before 18 years of age and had used CIs for more than 3 years were enrolled in this study. All patients underwent mutation screening of three common deafness genes: GJB2, SLC26A4 and the mitochondrial 12S rRNA gene. The outcomes with CIs were assessed at post-implant years 3 and 5 using the Categories of Auditory Performance (CAP) scale, Speech Intelligibility Rating (SIR) scale, speech perception tests and language skill tests.
  
  
  RESULTS
  Forty-eight patients were found to have confirmative mutations in GJB2 or SLC26A4, and 123 without detected mutations were ascertained for comparison. Among children who received CIs before 3.5 years of age, patients with GJB2 or SLC26A4 mutations showed significantly higher CAP/SIR scores than those without mutations at post-implant year 3 (p = 0.001 for CAP; p = 0.004 for SIR) and year 5 (p = 0.035 for CAP; p = 0.038 for SIR). By contrast, among children who received CIs after age 3.5, no significant differences were noted in post-implant outcomes between patients with and without mutations (all p > 0.05).
  
  
  CONCLUSIONS
  GJB2 and SLC26A4 mutations are associated with good post-implant outcomes. However, their effects on CI outcomes may be modulated by the age at implantation: the association between mutations and CI outcomes is observed in young recipients who received CIs before age 3.5 years but not in older recipients.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chang-Gung Memorial Hospital, Linkou Branch, College of Medicine, Chang-Gung University, Taoyuan, Taiwan.
authors.forename: Che-Ming
authors.initials: CM
authors.lastname: Wu
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chang-Gung Memorial Hospital, Linkou Branch, College of Medicine, Chang-Gung University, Taoyuan, Taiwan.
authors.forename: Hui-Chen
authors.initials: HC
authors.lastname: Ko
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chang-Gung Memorial Hospital, Linkou Branch, College of Medicine, Chang-Gung University, Taoyuan, Taiwan.
authors.forename: Yung-Ting
authors.initials: YT
authors.lastname: Tsou
authors.affiliation: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Yin-Hung
authors.initials: YH
authors.lastname: Lin
authors.affiliation: Division of Genetics and Endocrinology, Department of Pediatrics, Chang-Gung Memorial Hospital, Linkou Branch, College of Medicine, Chang-Gung University, Taoyuan, Taiwan.
authors.forename: Ju-Li
authors.initials: JL
authors.lastname: Lin
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chang-Gung Memorial Hospital, Linkou Branch, College of Medicine, Chang-Gung University, Taoyuan, Taiwan.
authors.forename: Chin-Kuo
authors.initials: CK
authors.lastname: Chen
authors.affiliation: Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Pei-Lung
authors.initials: PL
authors.lastname: Chen
authors.affiliation: Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Chen-Chi
authors.initials: CC
authors.lastname: Wu
mesh_terms: D002648:Child; D002675:Child, Preschool; D003054:Cochlear Implants; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D003710:Demography; D005260:Female; D005838:Genotype; D006801:Humans; D007802:Language; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D013060:Speech; D013065:Speech Intelligibility; D013067:Speech Perception; D000076988:Sulfate Transporters; D016896:Treatment Outcome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26