title: The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients.
abstract: To analyze the treatment outcomes in pediatric cochlear implant patients with mutations in GJB2 or SLC26A4 and to determine these mutations' impact on rehabilitative outcomes. The study included 41 children who received unilateral cochlear implantations. Fifteen of these children had GJB2-related deafness, 10 had SLC26A4-related deafness, and 16 had deafness of unknown etiology. Speech perception and language development evaluations, including the Meaningful Auditory Integration Scale (MAIS), categories of auditory performance (CAP), speech intelligibility rating (SIR) and babbling spurt, were conducted before and after the implantation. Better results for the GJB2 group (vs. the control group) were observed regarding MAIS, CAP and SIR at 24 months after implantation (P < 0.05). The performance of GJB2 group was better than SLC26A4 group, expressed by a significant difference in the variance of CAP and SIR at 24 months postoperatively (P < 0.05). A trend towards earlier babbling spurt onset could be observed for the GJB2 group, intergroup comparison did not reveal any significant difference among the three groups (P > 0.05). The SLC26A4 group performed better than the control group at 12 and 24 months postoperatively, although without a statistically significant difference (P > 0.05). The GJB2 gene mutations had a significantly positive impact on the outcome of cochlear implantation. Patients with SLC26A4-related deafness were shown to benefit from cochlear implantation.
authors.affiliation: Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital and Ear Institute, Shanghai Jiaotong University School of Medicine, Kongjiang Road #1665, Shanghai, 200092, China.
authors.forename: Yu-jun
authors.initials: YJ
authors.lastname: Yan
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
authors.forename: Qi
authors.initials: Q
authors.lastname: Huang
authors.forename: Hao
authors.initials: H
authors.lastname: Wu
mesh_terms: D016022:Case-Control Studies; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000534:rehabilitation*; D003054:Cochlear Implants; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D007804:Language Development; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D011379:Prognosis; D012189:Retrospective Studies; 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