常见基因相关耳聋的临床特点及人工耳蜗植入效果分析

发布时间：2018-07-20 21:08

【摘要】：正常听力是语言形成和发展的基础,听力言语障碍直接影响日常生活交流与学习。耳聋是人类最为困恼的疾病之一,2006年我国第二次全国残疾人抽样调查报告显示:各类残疾人数共计8296万人,其中听力残疾2780万人,居于各类残疾之首,且以每年2~3万新生聋儿的速度增长,致聋原因包括遗传、药物、噪音、外伤、老年性或多种因素结合所致。其中,基因突变作为听障儿童的主要致聋原因所占的比例高达50%-60%。在我国,GJB2与SLC26A4突变相关耳聋在遗传性聋中所占比例约为35.5%,是检出率最高的两大责任基因。二者因发病机制不同,其临床表现可能存在差异。因此从发病年龄、听力损失程度、CT表现等方面研究伴有GJB2和SLC26A4基因突变的耳聋人群的临床和影像学特征,对于帮助明确诊断和指导临床干预措施具有重要意义。人工耳蜗植入(Cochlear implantation,CI)技术的出现为双侧极重度感音神经性聋患者提供了回归有声世界的机会。CI植入技术的日臻完善,耳蜗植入术患者的例数逐年增加,CI人群在听觉感知、言语识别和语言产出等方面的能力不断提升,然而,术后康复效果仍存在较大的个体差异。随着基因检测和诊断技术的广泛应用,伴有基因突变的耳聋患儿已占据了CI人群的一大部分,不同的基因突变作为感音神经性聋的致病原因对CI术后的听觉言语康复效果是否有影响,目前研究结果存在矛盾。不同地域和非英语语系耳聋基因相关感音神经性聋CI术后听觉言语康复效果的研究资料尚少。本研究目的:1.观察对比GJB2、SLC26A4基因突变相关感音神经性聋患儿的发病年龄、听力损失程度及内耳影像学特点。2.研究探讨GJB2、SLC26A4基因突变相关感音神经性耳聋患儿人工耳蜗植入术后听觉言语的康复特点。第一部分常见基因相关耳聋的临床特点目的观察对比GJB2、SLC26A4基因突变相关感音神经性聋患儿的发病年龄、听力损失程度及内耳影像学特点。方法研究对象为我院耳科门诊就诊经耳聋基因芯片与DNA测序相结合的方法检测结果为GJB2、SLC26A4基因纯合或复合杂合突变的0~12岁感音神经性聋患儿218例,其中GJB2基因纯合或复合杂合突变患者123例,SLC26A4基因纯合或复合杂合突变患者95例。按发病年龄分为婴儿期组(0~1岁)、幼儿期组(1.1~3岁)、学龄前期组(3.1~6岁)及学龄期组(6.1~12岁),探讨GJB2、SLC26A4基因纯合或复合杂合突变患儿的发病年龄构成、听力损失程度及颞骨CT影像学特点。结果1、GJB2、SLC26A4两基因突变组患儿发病年龄在婴儿期、幼儿期、学龄前期、学龄期的构成比分别为:43.09%、37.40%、14.63%、4.88%与24.2%、44.21%、18.95%、12.63%,两组发病年龄构成差异有统计学意义(P=0.014)。2、GJB2、SLC26A4基因突变组患儿听力损失程度为中度、重度、极重度的构成比分别为:8.94%、17.89%、73.17%及9.47%、34.74%、55.79%,GJB2组主要为极重度听力损失,与SLC26A4组听力损失程度构成比差异有统计学意义(P=0.014)。3、GJB2基因突变患儿各年龄组间听力损失构成比差异有统计学意义(P=0.000),再行两两组间比较示婴、幼儿期组听力损失程度以极重度为主,发病年龄越小,极重度听力损失的比例越高,学龄前和学龄期组极重度听力损失的比例有所降低。SLC26A4基因突变患儿各年龄组听力损失程度均以重度、极重度为主,听力损失构成比差异无统计学意义(P=0.686)。4、GJB2基因突变组99.19%(122/123)患儿内耳结构正常,仅一例CT显示双侧内听道狭窄,SLC26A4基因突变组95.79%(91/95)患儿颞骨CT结果伴有前庭水管扩大。小结1、伴GJB2基因突变的耳聋患儿发病年龄集中在婴、幼儿期(0~3岁),以极重度感音神经性聋为主,多不伴内耳畸形。2、SLC26A4基因突变感音神经性聋患儿发病年龄多见于幼儿期(1.1~3岁),以重度、极重度感音神经性耳聋为主,与伴前庭水管扩大的内耳畸形密切相关。第二部分常见基因相关耳聋人工耳蜗植入术效果分析目的研究探讨GJB2、SLC26A4基因突变相关感音神经性耳聋患儿人工耳蜗植入术后听觉言语的康复特点。方法观察评估2015年1月-2016年2月在我科行单侧CI植入术的患儿198例,男102例,女96例,植入年龄10月~6岁,平均3.14岁。根据基因检测结果,分为GJB2组、SLC26A4组及未发现基因突变的为对照组。分别于术前,术后3月、6月、12月评估并比较三组患儿的听觉言语能力。评估内容包括:声场助听听阈测试、听觉行为分级(Categories ofauditory performance,CAP)和言语可懂度分级(Speech Intelligibility Rate,SIR)评分、言语识别能力测试采用《听障儿童听觉、语言能力评估标准》。结果1、GJB2组、SLC26A4组和对照组听觉言语能力均随康复时间的延长逐步提高,各组CAP、SIR评分及言语识别率和语言年龄在相邻时间点的差异均有统计学意义(P0.05)。2、GJB2组各时间点CAP、SIR评分及言语识别率和语言年龄与对照组同一随访时间的结果相比差异无统计学意义(P0.05)。3、SLC26A4组术前、术后3月、术后6月CAP、SIR评分及言语识别率明显高于GJB2组和对照组,差异有统计学意义(P0.05)。术后12月时的CAP、SIR评分及言语识别率与GJB2组和对照组的差异无统计学意义(P0.05)。SLC26A4组语言年龄在各时间点与其余两组差异无统计学意义(P0.05)。小结1、SLC26A4基因突变SNHL患儿人工耳蜗植入后短期内康复效果明显优于伴GJB2基因突变者和未检出基因突变者。2、GJB2基因突变SNHL患儿术后能获得较好的听觉言语康复效果,与未检出基因突变者相当。全文结论1.伴GJB2基因突变的耳聋患儿发病年龄集中在婴、幼儿期(0~3岁),以极重度感音神经性聋为主,多不伴内耳畸形。2.SLC26A4基因突变感音神经性聋患儿发病年龄多见于幼儿期(1.1~3岁),以重度、极重度感音神经性耳聋为主,与伴前庭水管扩大的内耳畸形密切相关。3.SLC26A4基因突变感音神经性聋患儿人工耳蜗植入后短期内康复效果明显优于伴GJB2基因突变者和未检出基因突变者。4.GJB2基因突变感音神经性聋患儿术后能获得较好的听觉言语康复效果,与未检出基因突变者相当。
[Abstract]:Normal hearing is the basis of language formation and development, hearing speech disorder directly affects daily life communication and learning. Deafness is one of the most distressed diseases of human being. In 2006, the second national sampling survey on disabled persons in China showed that the total number of disabled persons of all types was 82 million 960 thousand, and the hearing disability was 27 million 800 thousand, the first of all kinds of disabilities. The causes of deafness include heredity, drugs, noise, trauma, and combination of many factors. Among them, the proportion of the gene mutation as the main deafness cause of the hearing impaired children is up to 50%-60%. in China, and the proportion of the deafness associated with GJB2 and SLC26A4 mutation is about 35.5% in the hereditary deafness. It is the two major responsible gene for the highest detection rate. The clinical and the clinical and imaging features of the deafness people with GJB2 and SLC26A4 mutations are studied from the age, the degree of hearing loss, and the CT expression, so that the diagnosis and guidance of clinical intervention can be made to help clearly diagnose and guide the clinical intervention. Significance. The emergence of Cochlear implantation (CI) technology provides a chance for bilateral extremely severe sensorineural deafness to provide a chance to return to the world of sound..CI implantation is becoming more and more perfect. The number of cases of cochlear implantation is increasing year by year, and the ability of CI people to be aware of hearing, speech recognition, and language output constantly. However, there are still large individual differences in the effect of postoperative rehabilitation. With the extensive use of gene detection and diagnostic techniques, a large number of deafness children with genetic mutations have occupied a large part of the CI population. Different gene mutations have been used as the cause of the cause of sensorineural hearing loss on the effect of auditory speech rehabilitation after CI. There are some contradictions in the previous study. There are few research data on auditory speech rehabilitation effect after CI operation in different regional and non English language families with hearing loss gene related sensorineural hearing loss. 1. the purpose of this study was to compare the age of onset of GJB2, SLC26A4 gene mutation related sensorineural hearing loss in children, the degree of hearing loss and the.2. study of inner ear imaging. To explore the rehabilitation characteristics of auditory speech after cochlear implantation in children with GJB2, SLC26A4 gene mutation related to sensorineural deafness. The first part is to compare the clinical characteristics of the common gene related deafness and to compare the age of onset, the degree of hearing loss and the inner ear imaging characteristics of GJB2, SLC26A4 mutation related sensorineural hearing loss. Methods 218 children with GJB2, SLC26A4 homozygous or complex heterozygous mutations were detected in 218 children with 0~12 year old sensorineural deafness, including 123 cases of GJB2 homozygous or complex heterozygous mutations, and SLC26A4 homozygous or compound heterozygous mutations in the 218 cases of GJB2, homozygous or complex heterozygous mutation in our hospital. 95 cases were divided into infant group (0~1 years old), early childhood group (1.1~3 years), pre school age group (3.1~6 years old) and school age group (6.1~12 years old). The age constitution of children with GJB2, SLC26A4 gene homozygous or complex heterozygous mutations, hearing loss and temporal bone CT imaging characteristics were investigated. The results of the 1, GJB2, SLC26A4 two gene mutation group were found. The proportion of age in infancy, infancy, pre school age and school age were 43.09%, 37.40%, 14.63%, 4.88% and 24.2%, 44.21%, 18.95%, 12.63%, and two groups were statistically significant (P=0.014).2, GJB2, and SLC26A4 gene mutation group was moderate, severe and extremely severe: 8.94%, 17.89, respectively. %, 73.17% and 9.47%, 34.74%, 55.79%, group GJB2 was the most severe hearing loss, and the ratio of hearing loss in the SLC26A4 group was statistically significant (P=0.014).3. The ratio of hearing loss in children with GJB2 gene mutation was statistically significant (P=0.000), and then the 22 groups were compared and the degree of hearing loss in the early childhood group The proportion of extreme severe hearing loss was higher, the proportion of extreme severe hearing loss in preschool and school age groups decreased with severe severe hearing loss. The degree of hearing loss in all age groups of.SLC26A4 gene mutation was severe, most severe, and the ratio of hearing loss was not statistically significant (P=0.686).4, GJB2 gene mutation. In group 99.19% (122/123), the inner ear structure of children was normal, only one case with CT showed bilateral internal auditory stenosis, and the SLC26A4 gene mutation group 95.79% (91/95) had CT in the temporal bone with enlargement of the vestibular aqueduct. 1, the age of children with deafness with GJB2 gene mutation was concentrated in infant, early childhood (0~3 years), most severe sensorineural deafness and no inner ear. The age of.2, SLC26A4 gene mutation and sensorineural hearing loss in children is mostly in early childhood (1.1~3 years), mainly with severe, extremely severe sensorineural deafness, closely related to the internal ear malformation with enlarged vestibule pipes. The second part of the common gene related deafness cochlear implantation is to study the GJB2, SLC26A4 gene The characteristics of auditory speech rehabilitation after cochlear implantation in children with mutational related sensorineural deafness were observed. Methods a total of 198 children, 102 males and 96 females, aged 3.14 years old in October -2016 years in February January 2015, were observed and assessed. The results were divided into group GJB2, SLC26A4 group and unfound basis according to the results of gene detection. The auditory speech ability of the three groups was evaluated and compared before the operation, in March, in June, and in December, respectively. The evaluation contents included sound field hearing hearing threshold test, Categories ofauditory performance, CAP, Speech Intelligibility Rate, SIR score, and speech recognition ability test. The hearing of the hearing impaired children, the standard of language ability evaluation was more than. Results 1, the auditory speech ability of group GJB2, SLC26A4 group and control group increased gradually with the prolongation of recovery time. The difference of CAP, SIR score, speech recognition rate and language age at adjacent time points were statistically significant (P0.05).2, GJB2 group time point CAP, SIR score and speech in each group. There was no significant difference in speech recognition rate and language age compared with the results of the same follow-up time in the control group (P0.05).3. Before operation, March, and CAP after operation in group SLC26A4, SIR score and speech recognition rate were significantly higher than that of group GJB2 and control group, the difference was statistically significant (P0.05). The CAP, SIR score, speech recognition rate and GJB2 group in December after operation. There was no significant difference in the difference between the control group and the control group (P0.05) the language age of the group.SLC26A4 was not statistically significant (P0.05) at all time points and the other two groups. The conclusion was 1. The short-term rehabilitation effect of the cochlear implant in children with SLC26A4 gene mutation was better than that of the GJB2 gene mutation and the undetected gene mutation,.2, and the GJB2 gene mutation in SNHL patients. Conclusion 1. children with deafness with GJB2 gene mutation are concentrated in infants, early childhood (0~3 years), most severe sensorineural deafness, and children with more non.2.SLC26A4 gene mutations and sensorineural hearing loss are more common in children. In early childhood (1.1~3 years of age), severe, extremely severe sensorineural deafness is the main factor, and the.3.SLC26A4 gene mutation is closely related to the enlarged inner ear malformation associated with the vestibule tube. The short-term rehabilitation effect of the cochlear implantation in children with sensorineural deafness is obviously better than that of the GJB2 gene mutation and the.4.GJB2 mutation in the undetected gene mutants. Children with deafness can achieve better hearing and speech rehabilitation after operation, and are equal to those without gene mutation.
【学位授予单位】：郑州大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R764.43

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