| Objective: The aim of the study is to assess the audiological and surgery outcome after cochlear implantation in children with inner ear malformation and deafness gene mutation,to reveal the effects of genes related to deafness and morphological changes of inner ear on the auditory and speech rehabilitation 3 years after CI surgery,to explore the correlation between deafness gene mutation and auditory speech rehabilitation effect,and to reveal the influence of inner ear morphological changes on the auditory speech rehabilitation effect after CI surgery.Methods: A total of 389 patients with unilateral CI were selected from the department of otolaryngology and head and neck surgery of the second hospital of Lanzhou university from 2012 to 2015.Among them,350 patients were tested for genes related to deafness to explore the distribution of different genes.In addition,96 patients who were diagnosed as GJB2 and SLC26A4 gene mutations by gene testing and received cochlear implant were screened,and the effects of different genetic types and hot spot mutations were studied by collecting auditory and speech rehabilitation data 3 years after surgery.Choosing of 64 cases of patients with inner ear malformation who lost their hearing before learning to speak,and divided them into three groups: the group of EVA,the group of EVA with IP-II,the group of other inner ear malformation.Meanwile selecting 106 cases with normal cochlear in the same period as control group,matching the age of implantation.All the patients were collected the effect of cochlear implantation after 3 years,to study the effects of auditory and speech rehabilitation after cochlear implantation for different inner ear malformations.Results:1.Among the 350 patients,160(5 dual-gene mutations)were found,accounting for45.71%(160/350)of the patients,mainly GIB2 and SLC26A4 mutations.There were 74 patients with GIB2 gene mutation,accounting for 21.14%(74/350).Among them,49 patients had biallelic mutations and 25 patients had monoallelic mutations.The three common sites were c.235 del C,c.299-300 delat and c.109G>A,and the allele frequencies were 9.43%(66/700),3.86%(27/700)and 2.28%(16/700)respectively.There were 20 genotypes of GIB2 gene,among which c.235 del C/c.235 del C and c.235 del C/c.299-300 del C were common,accounting for 25.67%(19/74)and 22.97%(17/74)respectively.There were 67 SLC26A4 gene mutations,accounting for 19.14%(67/350),among which 49 were biallelic mutations and 18 were monoallelic mutations.The most common mutation sites were c.919-2A>G,c.2168A>G with allele frequencies of 9.86% and 1.28% respectively.There were 31 genotypes with SLC26A4 gene mutation,among which c.919-2A >G/c.919-2A>G,c.919-2A>G,c.919-2A>G/c.2168A>G,c.919-2A>G/c.1229C>T accounted for29.85%(20/67),11.94%(8/67)and 5.97%(4/67)respectively.2.This work studied the auditory and speech rehabilitation effect of 96 patients with preverbal deafness diagnosed with GJB2 and SLC26A4 gene mutations after cochlear implantation,two groups of patients in the hearing threshold of 0.5 k Hz,the average threshold,CAP,and SIR show statistical differences,and SLC26A4 mutations group of hearing speech rehabilitation after surgery effect is superior to the group of GJB2 gene mutations.3.10 patients with GJB2 gene hotspot mutation c.235 del C and 15 patients with SLC26A4 gene hotspot mutation c.919-2A > G were selected.After cochlear implantation,there was a statistical difference in the hearing threshold of 0.5khz between the two groups,and the group of c.919-2A >g was better than the group of c.235 delc.4.Among the 389 cochlear implant patients,the number of inner ear malformation was 76 and the rate of incidence was 19.54%(76/389).There were 75 cases of bilateral malformation,accounting for 98.68% and 1 case of unilateral malformation,accounting for 1.32%.102 ears were suffered with EVA accounting for 67.55%(102/151),the rate of IP-II was3.97 %(6/151),the rate of IP-II with EVA was18.54%(28/151),the rate of IP-I was 4.64%(7/151),the rate of IP-III was 1.32%(2/151).CH-I and CC were found in 1 ears with the rate of 0.66%(1/151),the rate of CH-III was 2.64%(4/151).5.Comparing the postoperative auditory and speech rehabilitation effect of EVA and EVA+IP-II malformations with other inner ear malformations after CI,the postoperative auditory and speech rehabilitation effect of other inner ear malformations group was poor,but compared with the group with normal inner ear morphology,there was no statistical difference in the postoperative auditory and speech rehabilitation effect of patients with different inner ear malformations.Conclusion:1.In patients with severe and profound sensorineural hearing loss who received CI,the most common deafness related gene mutations were GJB2 and SLC26A4.2.The SLC26A4 gene mutation group was better than the GJB2 gene mutation group in the auditory and speech rehabilitation effect at 3 years after surgery.The type of gene mutation is the main factor affecting the effect of auditory and speech rehabilitation after CI surgery.3.The hot spot mutations of the c.919-2A>G and the c.235 del C showed no significant difference in the effect of auditory and speech rehabilitation after CI.4.The incidence of inner ear malformation in patients with congenital severe and extremely severe sensorineural hearing loss was 19.54%,the most common abnormalities of the inner ear undergoing CI surgery were EVA and EVA combined with IP-II.5.After CI surgery,patients with inner ear malformation can achieve an auditory and speech rehabilitation effect comparable to that of the group with normal inner ear morphology.Morphological abnormality of inner ear is not a key factor affecting the auditory and speech rehabilitation effect after CI surgery. |
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