云南3所特教学校聋生临床资料分析

目的对云南3所特殊教育学校聋生人群进行系统性的耳聋临床资料分析,为开展耳聋基因的分子流行病学研究提供参考依据。方法了解聋生详细的耳聋病史;进行全身及耳鼻咽喉常规检查;进行纯音听阂测试及声导抗测试,了解聋生双耳听功能和中耳功能状况。结果聋生耳聋前有耳毒性药物用药史者占8．2％,有家族史者占19．5％,综合征性耳聋占5．3％,耳聋病因不明者亦占较大比例;汉族与非汉族聋生在综合征性耳聋和聋前用药史方面无显著差异,汉族聋生有家族史的比例高于非汉族聋生。结论云南省聋生可能的致聋原因有遗传性聋、药物性聋,但大部分聋生病因不明,尚需借助分子生物学理论和技术,从基因水平进行耳聋病因学的深入研究。。     

中国西北地区801例聋哑学生临床流行病学病因分析

目的在中国西北地区聋哑人群中进行耳聋的临床病因学分析，明确不同致聋因素在该地区耳聋患者中的分布特点和流行规律。方法对中国西北地区5所聋哑学校的801例聋哑学生，采用问卷式调查及电话家访的方式采集病史；由专科医生进行全身及耳部检查排除综合征型患者；由专业测听师进行听力学检测，判断听力损失程度。结果801例聋哑学生中有326例为药物性聋，占40．69％（326／801），其中氨基糖苷类抗生素（AmAn）致聋占药物性聋的86．5％（282／326）；家族遗传性聋85例，占10．61％（85／801）；母孕期感染、新生儿疾患及婴幼儿期疾病引起的耳聋190例，占23．72％（190／801）。结论药物性聋是导致该地区耳聋发病的主要原因，其次为家族遗传性聋；新生儿和婴幼儿疾病也是导致该地区耳聋的主要因素。     

耳蜗植入在常见类型遗传性耳聋中的应用效果

遗传因素是重度及极重度耳聋的主要病因之一,与人工耳蜗植入后听力言语康复效果密切相关。多种致聋基因常见致聋基因型成功克隆后,致聋基因的致病机理以及其与耳蝸植入效果间的相关性已成为研究热点。目前研究认为耳聋表型可能与致聋病因,螺旋神经节细胞残留数量等有关。通过对耳蜗植入患者的致聋基因突变位点和基因突变方式可阐明影响耳蜗植入效果的相关因素。本文探讨各类遗传性耳聋耳蜗植入效果的当前进展,并着重于耳聋临床表型-基因型的相关性。     

天门市特殊教育学校聋哑学生耳聋相关基因检测结果分析

目的对湖北省天门市特殊教育学校聋哑学生进行耳聋分子流行病学调查,了解其耳聋的常见分子遗传学病因。方法对湖北省天门市特殊教育学校52例5～16岁的聋哑学生进行遗传性聋问卷调查、全面体格检查、耳鼻咽喉专科检查及听力学评估,对每例对象采取外周血,提取DNA,采用多重等位基因特异性PCR通用芯片(allele-specific PCR-based universal array,ASPUA)筛查GJB2、SLC26A4、GJB3和mtDNAl2SrRNA四个耳聋相关基因的9个致聋突变位点;对携带SLC26A4基因突变的对象进行颞骨CT扫描。结果 52例聋哑学生均为非综合征型聋,共检出4种耳聋相关基因突变者25例(48.08%,25/52),其中检出GJB2基因突变者12例(23.08%,12/52),未检出GJB3基因突变者,SLC26A4基因突变者9例(17.30%,9/52),线粒体DNA12SrRNA基因突变者4例(7.69%,4/52)。9例携带SLC26A4基因突变者颞骨CT扫描均显示前庭水管扩大。结论 GJB2基因突变是天门市特殊教育学校耳聋群体中遗传性聋的常见致聋基因,其次为SLC26A4和线粒体DNA12SrRNA基因突变,大前庭水管综合征的发病与SLC26A4基因突变有关。     

儿童感音神经性聋77例分析

对７７例感音性神经性聋患儿的病因，前庭，听功能进行分析，中重度以上耳聋者１０９耳，平衡及半规管异常者占８８．９％。大前庭导水管综合征１９例３８耳均呈重度聋，为胚胎发育性疾病，平均年龄７．１岁，在言语形成期以后发病者有一定的言语表达能力，若早期发现进行相应的防范，可保存听力，当听力重度障碍应辅以助听器，帮助言语康复；药物中毒性聋１５例中，１３例２６耳中重工聋且呈聋哑状态，平均年龄２．８岁，此种后天获     

非综合征型聋相关基因研究进展

非综合征型聋是由遗传因素引起的最常见的感音神经性聋。深入了解耳聋分子病因学的特点,不仅有助于我们对耳聋患者进行病因诊断、遗传咨询、产前诊断和新生儿听力筛查,还可以及时干预和治疗,为防聋治聋提供帮助。目前人类研究发现的致聋基因已有百余种,中国最常见的致聋基因为GJB2、SLC26A4、线粒体DNA12S rRNA和GJB3。本文对非综合征型聋相关基因的研究进展予以综述。     

中国赤峰地区耳聋患者病因分析

目的 探讨中国北方赤峰地区的重度、极重度感音神经性聋患者的耳聋病因构成,了解遗传性聋的比例,为建立和完善符合中国耳聋人群遗传特征的基因筛查程序提供参考.方法 调查对象来自内蒙古赤峰地区某特教学校耳聋患者共134例,听力检查全部为重度、极重度感音神经性聋;对照组100例,为中国北方听力正常者.所有受检者均采集外周血并提取DNA,进行GJB2、GJB3、GJB6、SLC26A4、线粒体DNA(mitochondrial DNA,mtDNA)12SrRNA和tRNASer(UCN)编码区全长序列分析,并对携带SLC26A4突变的个体回访进行高分辨率颞骨CT检查.结合耳聋病史、家族史、氨基糖甙类药物应用史及基因筛查结果分析该耳聋人群的病因.结果 该耳聋人群中与遗传因素有关的耳聋比例为60.45%(81/134),其中病因明确的遗传性聋比例为33.58%(45/134).GJB2突变是该人群中17.16%(23/134)耳聋患者的病因;与药物性耳聋相关的线粒体基因1555 A>G突变仪占0.76%(1/134);通过SLC26A4序列分析结合内耳影像学检查,诊断前庭水管扩大和(或)内耳畸形患者20例,占该耳聋人群的14.93%.此外,还有13.43%(18/134)的患者携带GJB2单杂合突变,其耳聋可能与之有关;6.72%(9/134)的耳聋患者携带SLC26A4单杂合突变,这部分患者颞骨CT检查未发现前庭水管扩大或因故未能进行颞骨CT检查,不排除其耳聋与SLC26A4相关的可能;2.24%(3/134)的耳聋患者携带线粒体12SrRNA 1095 T>C突变,该突变与药物性耳聋有关,很可能是导致耳聋的病因.GJB3基因突变可能参与了1.49%(2/134)患者的耳聋发病;在该耳聋人群中未检出GJB6基因突变.结论 赤峰地区抽样调查耳聋群体中遗传性聋比例高达60.45%,GJB2突变是该人群遗传性聋的最常见病因,SLC26A4突变为第二常见病因.     

婴儿神经性耳聋的病因分析

目的 探讨婴儿致聋的原因．为耳聋的早期发现提供信息。方法填写表格式病因调查表。并行必要的临床检查。结果在96名接受调查的聋儿中。耳聋发生于出生之前的占33％。其中主要的原因有孕妇用药(占本期的23％)。遗传(22％)。先兆流产(19％)．母体被感染(12％)。发生在出生时的为26％。其中产时乏氧致聋的占到本期的52％。早产和低体重分别占20％和12％。出生后致聋的比例为17％。其主要原因是药物中毒，占本期的69％，而其中最主要的致聋药物为庆大霉素。结论 婴儿神经性耳聋发生的时间主要是在出生前和出生时，主要原因是孕期保健和产程监护不利。禁止滥用耳毒性抗生素仍是预防后天性耳聋发生的关键。     

先天性非进展性常染色体显性遗传非综合症型耳聋家系临床表型特征分析

目的一个连续三代的常染色体显性遗传先天性非进展性非综合症型耳聋家系的临床听力学特征及遗传规律。方法对耳聋家系成员进行病史采集、体格检查、纯音测听、声导抗、听性脑干反应检测,其中一名患者进行颞骨CT扫描检查。绘制遗传图谱并进行遗传学特征分析。结果该家系成员共计18人,耳聋患者11人,其中一例为氨基糖苷类药物致聋患者。该耳聋家系每代及男女均有发病,非药物致聋患者均表现为语前聋、平稳型、全频中度听力下降,听力曲线呈平坦型。结论该家系遗传方式符合常染色体显性遗传规律,表现为全频中度感音神经性耳聋。该研究为下一步的致聋基因的定位与鉴定奠定了良好的工作基础。     

非综合征性聋常见致聋基因及其基因诊断

非综合征性聋占遗传性聋的70％,至今已有60余个非综合征性聋基因被克隆.随着耳聋基因研究的迅速发展及基因检测技术的不断进步,耳聋基因诊断将广泛应用于耳聋病因学检查和预防性筛查中,有助于耳聋更准确的诊断和更恰当的遗传咨询.     

“Minimized rotational vestibular testing” as a screening procedure detecting vestibular areflexy in deaf children: screening cochlear implant candidates for Usher syndrome Type I

Morbus Usher (USH), a combination of sensorineural hearing loss and retinal visual impairment, is classified into group I-III. USH I patients are born deaf. Within the first 10 years of life, they develop a severe vision impairment due to progressive retinal dystrophy (retinitis pigmentosa). USH I patients show vestibular deficits. The incidence of USH I among congenitally deaf children is assumed to be as high as 10%. We intend to create a simple examination procedure for screening congenitally deaf children for vestibular deficiency and subsequently USH I. The examination procedure is named "Minimized Rotation". The vestibular function of deaf children was examined by Minimized Rotation during their preoperative cochlear implant candidacy examination. A lack of postrotational nystagmus was seen as an indication for vestibular deficit. Subsequently some of these patients were examined under general anaesthesia by electroretinography (ERG) at the Department of Ophthalmology. A total of 117 children were examined by Minimized Rotation. In 19 children (16.2%) no rotational nystagmus was found. Six of these children were additionally examined at the Department of Ophthalmology using Ganzfeld ERG. Three of them (50%) showed generalized dysfunction of the retina; 8.1% of the children undergoing preoperative evaluation for cochlear implatation are assumed to show abnormalities of the retina. Rotational examination seems to be an appropriate screening method to detect vestibular deficits, which is one sign of USH I. The results always have to be verified by Ganzfeld-ERG or further genetic investigations. Children with USH I are threatened by progressive reduction of vision. We, therefore, consider USH I children always to be implanted bilaterally with a cochlear implant to maximize the benefit of auditory rehabilitation.     

Ear examination findings at the Yeditepe School for the Deaf

OBJECTIVE: To find out the prevalence and etiologies of middle ear disease among deaf children in a school for the deaf. METHODS: A total of 162 students with hearing impairment attending a school for the deaf during the school year of 2001-2002 were admitted to this study. The range of age was from 6 to 20 years. The examination consisted of inspection of the auricle and external auditory canal, and otoscopic, audiometric and tympanometric evaluation. School performance was assessed using the results of end-of-year school examination and continuous assessments obtained from the school administration. RESULTS: The demographic properties of the study group revealed that 81 (60.9%) of children were male and 52 (39.09%) were female. Most of the children (45%) were in the group of 9-13 years of age. On pure tone audiometric evaluation, sensorineural hearing loss (HL) was found in 99 (85.3%) and mixed type HL in 17 (14.6%) of 116 cases. Impacted wax was the most common pathology and was seen in 15 (39.4%) of children. Middle ear diseases were detected in 38 (28.5%) of children with otoscopic examination. CONCLUSION: This study shows that hearing impairment and preventable ear diseases are important health problems among the school children for the deaf. It is essential to start the school education early in time and to start using hearing aid before 2.5 year of age.     

福州市特教学校非综合征性聋分子病因学分析--GJB2 235delC突变和线粒体DNA 12SrRNA A1555G突变筛查报告

目的 对福州市聋哑学校非综合征性耳聋的患儿进行聋病分子病因学分析。方法 对福州市153名聋哑学校学生进行耳聋病因问卷调查、纯音听阈测试，并对150名非综合征性感音神经性耳聋患者进行GJB2和线粒体DNA 12SrRNAA 1555G基因突变检测。结果 150例感音神经性耳聋患者中13例（8．67％）为GJB2 235delC纯合突变，10例（6．67％）为GJB2 235delC杂合突变，1例（0．67％）存在线粒体DNA 12SrRNA A1555G点突变。在分子水平能够明确诊断者达16％。结论 福州地区G口2突变发生率低于其他学者报告的数据。线粒体DNA 12SrRNA A1555G突变低于全国平均水平。GJB2基因突变分析用于产前诊断可以降低耳聋的发病率。线粒体DNA 12SrRNA A1555G点突变检测是预防药物性耳聋的有效途径。     

产前诊断对遗传性耳聋家庭的生育指导

目的通过一典型的有再生育要求的耳聋家庭病例，具体阐述耳聋产前诊断为耳聋家庭提供科学生育指导的内容、过程及意义。方法此耳聋家庭育有一子，为先天性耳聋患者，父母均为昕力正常者。对先证者进行详细的体格检查、昕力学及影像学检查后，采集先证者及其父母的外周血并提取DNA，进行GJB2，SLC26A4（PDS）基因分析和线粒体DNA（mtDNA）A1555G位点突变检测。明确受检者基因型并向该家庭提供遗传学信息后，在母亲妊娠早期（约10周）行产前诊断取材并提取DNA，明确胎儿的基因型。结果先证者携带GJB2复合突变，父母为携带者，此耳聋家庭再发风险为25％，产前诊断显示胎儿仅携带一个母系突变，出生后随访听力正常。结论耳聋产前诊断可为遗传性耳聋家庭提供科学的生育指导。     

The importance of fundus eye testing in rubella-induced deafness

Objective

The purpose of this study was to establish a new approach to improve detection of deafness due to rubella.

Methods

Colombian institutes for the deaf were visited by a medical team to perform in all enrolled individuals an ophthalmological examination with emphasis in fundus eye by a retina specialist. In cases where ocular alterations compatible with CRS were found, a medical interview by a clinical geneticist analyzing pre-and postnatal history and a thorough medical examination was done.

Results

A total of 1383 deaf institutionalized individuals were evaluated in 9 Colombian cities in the period of 2005 to 2006, finding a total of 463 positive cases for salt-and-pepper retinopathy (33.5%), in which rubella could be the etiology of deafness. Medellin, Cartagena, Bucaramanga and Barranquilla were the cities with the highest percentage of Congenital rubella, corresponding to 22.8% of analyzed population. The analysis performed on cases in which reliable prenatal history was obtained in a second appointment (n = 88) showed association between positive viral symptoms during pregnancy and salt-and-pepper retinopathy in 62.5% of cases, while both (retinopathy and viral symptoms) were absent in 29.5% of cases; showing a correlation in 92% of cases.

Conclusions

The frequency of deafness by rubella obtained by this study is significantly high compared with previous Colombian studies and with international reports. It was possible to correlate the antecedent of symptoms during pregnancy with the presence of salt-and-pepper retinopathy in this deaf population when reliable prenatal history was available, therefore eye testing with emphasis in fundus examination is a good indicator of rubella induced deafness. We propose a new approach in the search of deafness causes, based on a thorough ophthalmologic examination in all deaf people.     

A prospective study of ocular abnormalities in hearing impaired and deaf students.

In a prospective study of 505 hearing impaired and deaf students conducted at Children's Hospital Eye Clinic, 48.7% were found to have significant ocular abnormalities. The prevalence of myopia, astigmatism, and pathological intraocular changes was found to be significantly increased over the general population. In addition, the prevalence of ocular abnormalities generally increased with the severity of the hearing loss. Of importance was the high prevalence of rubella-consistent abnormalities in the hearing impaired and deaf student populations. Rubella syndrome may be responsible for a major portion of high refractive errors and ocular pathological changes. It is recommended that ENT specialists and pediatricians be aware of the nearly 50% chance of ocular abnormality in hearing impaired and deaf students, and that ophthalmologic examination may be valuable for identification or confirmation of the etiology of hearing impairment.     

The use of individual hearing aids by hearing-impaired children: a long-term survey, 1977-1987

This paper reports on the use of individual hearing aids by hearing-impaired children over a period of 10 years, from 1977 to 1987. During this period the hearing aids of 1853 children attending schools for the deaf, units for the partially hearing (PHUs) and ordinary schools were examined. The examination covered those parts of a hearing aid which a teacher of the deaf, without the use of sophisticated equipment, could reasonably be expected to check to ensure that they were functioning properly. Thirty-nine per cent (39%) of these children were using bodyworn aids, and the rest (61%) were using ear-level aids. There was a marked degradation of both bodyworn and ear-level hearing aid use with increasing age of the children and this was true for both boys and girls in schools for the deaf, PHUs and ordinary schools. The girls were making better use of their aids than the boys. Only very little difference in good hearing aid use was found between the children in schools for the deaf and those in PHUs. (Good use--bodyworn aids: schools for the deaf 43%, PHUs 44%; ear-level aids; schools for the deaf 56%, PHUs 58%). The poorest use of aids was associated with the hearing-impaired children attending ordinary schools (Good use--bodyworn aids 36%, ear-level aids 49%). Overall, only 43% of the children wearing bodyworn aids were making good use of them. The corresponding figure for ear-level aids was 54%. These findings are discussed and suggestions for improvements put forward.     

聋校学生中听神经病的调查研究

目的：获得南京聋人学校在校学生中听神经病的患病情况,并对其发病特征作初步探讨。方法：358名学生接受了耳科检查、声导抗及瞬态诱发性耳声发射（TEOAE）筛查,对通过TEOAE筛查的学生进行病史分析纯音测听、声导抗、诊断型TEOAE、DPOAE、ABR、ENG以及VEMP等全面的听力和前庭功能评估。结果：在可行听神经病评估的323名学生行TEOAE筛查时,1名学生单耳、2名学生双耳显示“通过”,经进一步检查,符合听神经病诊断。结论：听神经病并非罕见,在聋校中亦有发生,对其及早识别和科学干预,此类学生可能避免进入聋校,回归主流社会。     

Speech perception after cochlear implantation over a 4-year time period

OBJECTIVE: To evaluate the long-term speech perception of cochlear implantees and to compare the developing auditory performance patterns of prelingual children and postlingual deaf adults. MATERIAL AND METHODS: Twenty-nine prelingually deaf children and 17 postlingually deaf adults who had been followed up for 4 years were included in the study. Speech perception ability was assessed by means of vowel and consonant confusion tests and the Korean version of the Central Institute of Deafness (K-CID) test (performed without visual cues). The test results were analyzed at 3 and 6 months after implantation and then annually. RESULTS: In the prelingually deaf children, the average results continuously improved over the 4-year period. In the postlingually deaf adults, the average results did not improve further after the first 2 years. Individuals with < 5 years of deafness had a faster rate of recovery of speech perception than those who had been deaf for > 5 years. The K-CID scores were negatively correlated with age at implantation for the prelingually deaf group and with the duration of deafness in the postlingually deaf group. Children fitted with implants at a younger age showed better speech perception ability than those fitted with implants at an older age. Interestingly, prelingually deaf children aged 5-7 years at implantation showed the widest variation in individual outcomes. Amongst this group of children with highly variable outcomes, the metabolic status of brain cortices determined by means of 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) was available for three patients. The individual with the widest hypometabolic area had the best speech perception ability. CONCLUSION: The extent of hypometabolism as assessed by FDG-PET seemed to be one of the major factors predicting the outcome of cochlear implantation.