Abstract:ObjectiveTo investigate the effect of cochlear implantation for children with hearing loss induced by GJB2 gene mutations.MethodsThe case series included 114 children aged 2 to 6 years old who received unilateral cochlear implantation in our hospital．According to the age and the results of the GJB2 gene test, the children were divided into four groups (28 cases aged 2 to 4 with GJB2 mutations, 50 cases aged 2 to 4 without GJB2 mutations, 13 cases aged 4 to 6 with GJB2 mutations, 23 cases aged 4 to 6 without GJB2 mutations). The audiological results were assessed by using meaningful auditory integration scale (MAIS) at one year after surgery.ResultsAll patients received complete electrode insertion, and no serious complications occurred after surgery. One year after operation, the MAIS scores in patients aged 2 to 4 with GJB2 mutations were 25-37 (averaged: 34.0±2.7), and those without GJB2 mutations were 18-38 (averaged: 31.6±4.0). There was significant difference between them (P<0.05). However, the MAIS scores in patients aged 4 to 6 with GJB2 mutations were 22-36 (averaged: 31.5±4.4), and those without GJB2 mutations were 25-37 (averaged: 31.7±3.1). The difference was statistically insignificant (P>0.05).ConclusionsThe mutation rate of GJB2 gene in patients with cochlear implantation is high. The outcomes of postoperative rehabilitation in patients with GJB2 mutations are slightly better than or equal to those in patients without mutations, which suggests that cochlear implantation may be an effective treatment for pediatric hearing loss with GJB2 mutations.