Parental attitudes toward genetic testing for prelingual deafness in China

Objective

Recent advances in molecular biology of hearing and deafness have made genetic testing an option for deaf individuals and their families. In China, DNA microarray and other genetic testing method has been applied to rapid genetic diagnosis of non-syndromic hearing loss. However, there is no information about the interests in such testing in China. The purpose of this study is to document the attitudes of parents with normal hearing who have one or more deaf children toward diagnostic, carrier, and prenatal genetic testing for deafness.

Methods

A structured, self-completion questionnaire was given to delegates at a conference held at Hubei Rehabilitation Research Center for Deaf Children, Wuhan, China on March 3, 2010. Of 366 surveys distributed, 290 were completed and returned.

Results

Ninety-four percent of the respondents had a positive attitude toward genetic testing. Seventy-two percent stated that they were interested in genetic testing of deaf child. Of the individuals who were interested in such testing, 69% would consider having prenatal genetic testing for deafness.

Conclusion

The present study provided evidence of a predominantly positive attitude toward genetics. Appropriate genetic counseling can help parents to understand the risk, benefits, and limitations of genetic testing for prelingual deafness.     

Audiometric and Ophthalmological Findings in Rubella Deafness

In an attempt to study the relevance of ophthalmological changes to the diagnosis of cochlear hearing impairment due to fetal rubella infection, a survey of the literature combined with a clinical investigation was carried out. Based on the investigation of 57 patients, 31% had congenital hearing impairment due to fetal rubella infection. Of these patients, 61% had typical rubella retinal changes. In the remaining 69%, ophthalmoscopy revealed no abnormality, except in 1 patient. As the cause of the hearing impairment in this patient was unknown, it was concluded that the mother had suffered from subclinical rubella infection in the first trimester of her pregnancy.

It is concluded that rubella retinitis is found with such a high incidence in rubella children that it can be used as a tool in the diagnosis of cochlear hearing impairment due to fetal rubella infection. Patients with congenital hearing impairment ought to undergo a routine ophthalmoscopy which will detect eventual pigmentary changes.     

Electrocochleographic findings in cases of autoimmune disease with sensorineural deafness

Objectives: To present electrocochleographic findings in patients with autoimmune disease (AD) with sensorineural deafness (ADSD), and to discuss the etiologies of sensorineural hearing loss (SNHL) in cases of ADSD. Methods: Study design is a retrospective review of electrocochleographic results of 26 patients with ADSD. To evaluate the electrocochleographic results, average SP/AP ratios were compared between ADSD and normal subjects. In the ADSD group, audiologic pattern, fluctuations in hearing and results of the glycerol test were also reviewed. Electrocochleography (ECoG) was recorded using the extratympanic method, and the SP to AP ratio (SP/AP ratio) was analyzed. Results: The mean of average SP/AP ratios in the ADSD groups (0.46) was significantly higher than that in normal subjects (0.27). Further, 17 of 29 affected ears in patients with ADSD showed fluctuating hearing loss. Eighteen ears showed low tone loss (rising and peak audiologic patterns). Only 5 of 26 ears (19.2%) showed positive results on glycerol test. There was no correlation between glycerol test results and hearing fluctuation or between glycerol test results and the SP/AP ratio on χ²-test. There was no tendency between audiologic pattern and glycerol test results or between audiologic pattern and the SP/AP ratio. Conclusion: These results suggest the etiologies of SNHL in cases of ADSD remain unclear. However, some cases showed clinical findings similar to endolymphatic hydrops. We should bear in mind that clinical Meniere’s syndrome involves ADSD. Further investigation is needed to resolve the etiology of SNHL of ADSD.     

Prevalence and etiology of congenital or early acquired hearing impairment in Eastern Finland

Objective

The purpose of this study was to determine the prevalence and etiology of congenital or early acquired bilateral sensorineural hearing impairment (SNHI) in children born from 1988 to 2002 in the district of Kuopio University Hospital, Finland, and to compare the results with those from an earlier 14-year period in the same region and similar population.

Methods

The data were collected retrospectively from Hospital Records. The degree of hearing impairment was based on average air conduction threshold calculated over the frequencies 0.5, 1, 2 and 4 kHz in the better hearing ear. Hearing impairment was classified as mild (≥20-39 dB), moderate (40-69 dB), severe (70-95 dB) and profound (>95 dB).

Results

We identified 92 children with bilateral SNHI diagnosed before the age of 7 years. The overall prevalence and the prevalence for at least moderate SNHI was 2.1 per 1000 live births and 1.2 per 1000 live births, respectively. We found no differences in the prevalence of SNHI during both study periods. Etiology was genetic in 46%, acquired in 14% and unknown in 40%. Out of the genetic cases 74% were non-syndromic and 26% were syndromic. In comparison to the previous study there was a decline in the proportion of acquired SNHI and the proportion of genetic and unknown cause had increased. Six children in five families had homozygous 35delG mutation and six children in four families presented with a homozygous M34T mutation.

Conclusions

The prevalence of congenital or early acquired SNHI in the Kuopio University Hospital district area has not changed during a period of 29 years. Despite possibility to test the GBJ2 gene, the proportion of hearing impairment of unknown etiology remained high.     

The progression of hearing loss in the early stages of sudden deafness

Summary The pathogenesis of sudden deafness is still not known. Therefore, to clarify its pathophysiology, it is important to know whether the progression of hearing loss occurs in the early stage of sudden deafness. The subjects were 11 patients with sudden deafness showing the progression of hearing loss by pure tone audiometry after the onset of the initial attack of hearing loss. The progression of hearing loss was mostly observed within 4–7 days after the onset of the initial attack. Average hearing loss in initial audiometry was severe and the recovery was poor in the majority of cases. An exploratory tympanotomy was performed in five cases and revealed one case of perilymphatic leak from the round window and another case of suspected round-window membrane rupture. As far as the causes of the progression of hearing loss in the early stage of sudden deafness are concerned, the following could be considered (1) aggravation of viral labyrinthitis, (2) aggravation of the vascular lesion of the inner ear, and (3) rupture of the membranous labyrinth of window(s).This paper was presented at the XVIth International Congress of Audiology, May 23–27, 1982, held in Helsinki, Finland     

64例语前聋童听力学诊治状况结果分析

目的通过对语前聋儿童发现听力损失年龄、首次就诊年龄及首次验配助听器年龄的调查,了解语前聋儿童的就诊及干预情况。方法对64例特校聋童进行全面的听力学评估(含助听器评估)。结果64例聋童中,家长发现孩子有听力问题的平均时间为21个月,家长带孩子首次就诊的平均时间为32个月,首次验配助听器的平均时间为64个月。结论早发现、早诊断、早干预对语前聋儿童听力康复、回归主流社会有着至关重要的作用。临床听力学工作者还需大力宣传,让有听力问题的孩子被及早发现并得到正确的干预以获得最佳康复效果。     

梅毒性感音神经性聋的临床分析

目的:探讨梅毒性感音神经性聋的临床表现、诊断和治疗.方法:回顾性分析3例梅毒性感音神经性聋患者的临床症状、体征、血清学及治疗.结果:3例梅毒性感音神经性聋患者中,2例RPR和TPPA均阳性;1例RPR阴性,TPPA阳性;2例在外院已确诊为梅毒并行驱梅治疗;2例为突发性聋起病,伴有耳鸣,1例为耳鸣起病伴高频听力下降.均已排除了其他原因所致的:千聋耳鸣,治疗后听力无改善.结论:梅毒性感音神经性聋可以突发性聋或耳鸣发病,易漏诊.对病因不明的听方下降,伴有耳鸣、眼球震颤的患者,应行必要的实验室检查以明确诊断.     

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran

Objective

Mutations in GJB2 and GJB6 which comprise DFNB1 locus cause up to half of all cases of the prelingual autosomal recessive non-syndromic hearing loss (ARNSHL) worldwide. This study has intended to assess the spectrum and frequency of GJB2/GJB6 mutations in northwest of Iran.

Methods

508 Patients with presumed ARNSHL were analyzed by applying ARMS-PCR, SSCP, PCR-RFLP and sequencing assays.

Results

Seventy-five (14.7%) different homozygous and eighty-seven (17.1%) different compound heterozygous genotypes were detected in this cohort. Concerning the GJB2 gene, c.35delG was the most prevalent mutation, accounting for 16.4% of the samples. In addition 29 sequence variations other than c.35delG mutation were distinguished in GJB2; namely, delE120, Ins A 290-291, R143Q, V37I, R32H, Y155X, V27I + T123N, F154F, 167delT, 312del14, 299-300delA, T8M, W24X, E114G + V27I, 235delC, R184P, V153I, S139N, A171T, M163V (unknown mutation), G127V, E147X, R127H, 35insG, R143W, V27I, G160S, E114G and IVS1 + 1G > A. Moreover, the IVS1 + 1G > A was accounted as a second common mutation.

Conclusions

Overall, the frequency of GJB2 mutations (≥31%) is in agreement with other white population. These findings highlight the importance of the study of GJB2 gene in the diagnosis to provide early treatment and genetic counseling.     

南京地区耳聋患者常见耳聋基因突变的分析

目的 通过对南京地区重度-极重度感音神经性聋患者进行常见耳聋基因检测,分析该类患者常见致聋基因和各位点发生频率,阐明该地区耳聋的遗传病因学。 方法 首先对患者进行病史采集、体格检查、高分辨颞骨CT以及临床听力学检查,然后采集128例患者的外周静脉血2~4 mL,对其标本进行4种常见基因21个突变位点的检测。 结果 128例患者中,39例(30.47%,39/128)检测到基因突变,其中携带双基因杂合突变1例、携带基因纯合突变14例。30例(23.44%,30/128)患者携带GJB2基因突变,其中 18例(14.06%,18/128)为纯合或复合杂合突变。235delC位点突变检出率为20.31%(26/128),299_300delAT位点突变检出率为4.69%(6/128),176_191del位点突变检出率为3.91%(5/128)。10例(7.81%,10/128)患儿携带SLC26A4基因突变,其中携带纯合和复合杂合突变4 例(3.13%,4/128)。IVS7-2 A>G突变检出率为7.03%。患者未检出线粒体12SrRNA基因和GJB3基因突变。患者中高分辨颞骨CT提示前庭导水管扩大者11例,其中检测出SLC26A4基因纯合或杂合突变10例,二者的吻合率为90.91%(10/11)。 结论 南京地区重度-极重度感音神经性聋患者中,GJB2基因为最主要的致聋基因,其最常见的突变位点是235delC,其次为SLC26A4基因,最常见的突变位点是IVS7-2 A>G。研究发现SLC26A4基因突变在大前庭水管综合征患者中检出率极高,筛查SLC26A4基因热点突变有助于大前庭水管综合征的诊断,但仍需结合高分辨颞骨CT检查,避免患者漏诊。     

Prevalence of noise-induced hearing loss in student musicians

Abstract

This study describes the prevalence and characteristics of noise-induced hearing loss (NIHL) in student musicians (N = 329) aged 18–25 years. Students completed a questionnaire regarding exposures before a hearing assessment. NIHL was defined by the presence of a notch 15 dB in depth at 4000 or 6000 Hz relative to the best preceding threshold. Overall prevalence of NIHL was 45%, with 78% of notches occurring at 6000 Hz. The proportion of the total population with bilateral notching at any frequency was 11.5%, mostly occurring at 6000 Hz. There was a significant increase in the frequency of notching in students who reported more than two hours per day of personal practice. There were no significant associations for instrument group or other noise exposures. The data suggest that susceptibility to NIHL among students of music is not uniform and cannot be ascribed solely to the instrument played and other exposures. Students with bilateral losses tend to have deeper notches and may represent a group that has an inherent predisposition to NIHL.

Sumario

Este estudio describe la prevalencia y las características de la hipoacusia inducida por ruido (NIHL) en estudiantes de música (N = 329) con edades entre 18 y 25 años. Los estudiantes completaron un cuestionario sobre exposición a ruido antes de la evaluación auditiva. Se definió NIHL como la presencia de una muesca de 15dB en 4000 o 6000Hz con relación al mejor umbral precedente. La prevalencia general de NIHL fue de 44%, con 78% de las muescas en 6,000 Hz. La proporción de la población total con muescas bilaterales en cualquier frecuencia fue de 11.5%, en su mayoría a 6,000 Hz. Hubo un incremento significativo en la frecuencia de la muescas en los estudiantes que reportaban más de dos horas al día de práctica profesional. No hubo una asociación significativa con grupos de instrumentos u otra exposición a ruido. Los datos sugieren que la susceptibilidad a NIHL entre los estudiantes de música no es uniforme y no puede atribuirse solamente al instrumento tocado o a otras exposiciones. Los estudiantes con pérdida bilateral tienden a tener muescas más profundas y pueden representar un grupo que tenga una predisposición inherente a la NIHL.     

既往存在感音神经性听力损失突发性聋患者临床特征与疗效分析

目的探讨既往存在感音神经性听力损失突发性聋患者临床特征与疗效。方法对61例(63耳)既往存在感音神经性听力损失突发性聋患者的临床资料进行系统性分析,包括临床表现、疗效评估等,与同期收入院的既往不存在感音神经性听力损失突发性聋患者资料对比,分析发病和影响疗效的高危因素,总结该病发生、发展及预后的特点。结果既往存在和不存在感音神经性听力损失突聋患者的性别、现患耳侧别、病程差异无统计学意义(P值均>0.05),发病年龄差异具有统计学意义(P<0.05)。既往存在和不存在感音神经性听力损失突聋患者的听力曲线类型、听力损失程度差异无统计学意义(P值均>0.05),既往存在感音神经性听力损失突聋患者总有效率低于既往不存在感音神经性听力损失突聋患者总有效率,差异有显著统计学意义(χ²=6.915,P=0.009),既往存在感音神经性听力损失突聋患者痊愈率低于既往不存在感音神经性听力损失突聋患者痊愈率,差异无统计学意义(χ²=0.221,P=0.638)。结论既往存在感音神经性听力损失突聋患者病因复杂,疗效较差,应加大研究制定个性化的诊疗方案。     

Prevalence of labyrinthine ossification in CT and MR imaging of patients with acute deafness to severe sensorineural hearing loss

Abstract

Objective: To evaluate the prevalence of labyrinthine ossification, and especially cochlear ossification, in a cohort of patients with unilateral sudden deafness or severe sensorineural hearing loss. Design: Retrospective data collection. Study sample: Sixty-four consecutive patients with unilateral sudden deafness or severe sensorineural hearing loss and either high-resolution CT (HRCT) of the temporal bone (isotropic spatial resolution ≤ 0.8 mm; n = 18) or high resolution CISS MRI (isotropic spatial resolution ≤ 1 mm; n = 55) were included. Nine patients underwent both imaging modalities. A standardized reading regarding labyrinthine ossifications was performed by an experienced head and neck radiologist blinded to clinical symptoms. Results: Radiologic signs of cochlear ossification were present in 14 patients (12 CT and 2 MRI). Eight patients showed unilateral and six patients bilateral signs of cochlear ossification. In all except one of the unilateral cases, the deafened ear was affected. Conclusions: Signs of cochlear ossification were found in an unexpectedly high rate (14/64, 22%) of patients with acute deafness. The data suggest HRCT of the temporal bone to be more sensitive to detect labyrinthine ossification than MRI. HRCT of the temporal bone should therefore be considered in patients with impaired recovery of acute deafness to exclude cochlear ossification; if present, and, in cases of early signs, the patient should be evaluated further to facilitate early cochlear implantation before progression impedes electrode insertion, reflecting latest developments considering cochlea implants for single-sided deafness to be effective.     

语前聋青少年人工耳蜗植入发音清晰度与嗓音声学参数的分析

目的探讨语前聋青少年人工耳蜗植入患者发音清晰度、嗓音特点及其影响因素，为研究影响人工耳蜗植入患者言语清晰度的机制提供相关资料。方法8例资料完整的语前聋青少年人工耳蜗植入患者，分别进行耳蜗听力测试、发音清晰度评估及嗓音声学参数测试。结果发音清晰度与嗓音声学参数中的基频标准差（FOSD）及耳蜗听力有统计学上的相关性。相关系数分别为-．767（P〈0．026）和-．726（P〈0．041）；多元回归分析只有FOSD对发音清晰度有影响。结论人工耳蜗植入患者对音调的控制能力是影响言语清晰度的因素之一。患者发声时基频的变化，能够客观地反映人工耳蜗植入带来的听力补偿及形成的听觉-发音环路对发音准确度的影响。对音调的控制能力是评价人工耳蜗植入效果的有效手段之一。     

Pediatric sudden sensorineural hearing loss after diving

OBJECTIVE: Sensorineural hearing loss after diving from a low height has been rarely reported especially in children. METHODS: We present and discuss a new case of pediatric sudden sensorineural hearing loss after diving. RESULTS AND CONCLUSION: Medical and surgical approaches (indications and timing of explorative tympanotomy) to this occurrence are still controversial.     

Central deafness: a review of past and current perspectives

Abstract

Objective: The purpose of this review was to describe and differentiate clinical syndromes caused by lesions of the central auditory nervous system (CANS).

Design: Relevant literature was identified through Pubmed and Google Scholar searches using the key terms: central deafness, auditory agnosia, word deafness and cortical deafness. Given the authors’ intent to review past and current perspectives on central deafness, no publication date range was imposed.

Study sample: The review is organised around complete central deafness (CCD), central deafness (CD), word deafness and nonverbal agnosia (NVA), including anatomy and pathophysiology, symptom profile and audiological findings. Four case studies are presented to demonstrate the clinical correlates of CD.

Conclusions: Central deafness is a rare condition typically resulting from bilateral compromise of the CANS. The closer to the auditory cortex bilateral lesions are located, the greater the probability of CD. A variety of symptoms present with or appear subsequent to CD, including tinnitus, hallucinations, voice changes and hypersensitivity to sounds (if heard by the patient), as well as diverse neurological symptoms depending on the non-auditory areas of the brain that may also be involved. Thorough and appropriate audiological testing is critical to accurately diagnose CD and its variants.     

不同内耳组织抗原免疫致自身免疫性感音神经性聋的研究

目的：探讨不同内耳组织抗原免疫所致内耳主要病理损伤部位和听力障碍类型。方法：采用同种螺旋韧带（ＳＬ）、基底膜（ＢＭ）、螺旋神经节（ＳＧ）组织抗原免疫豚鼠，观察内耳组织病理改变和听觉功能变化。结果：ＳＬＡｇ和ＢＭＡｇ免疫组主要表现耳蜗微音器电位阈值升高和复聪现象，以及蜗管内和血管纹的免疫炎性病理改变；ＳＧＡｇ免疫组主要表现听神经复合动作电位阈值升高和幅值降低，内耳病理变化主要位于蜗轴血管及周围和ＳＧ     

Role of cytomegalovirus in sensorineural hearing loss of children: a case-control study Tehran, Iran

BACKGROUND: Congenital CMV is the most common cause of nonhereditary sensorineural hearing loss in children. More than 40% of deafness cases with an unknown cause are due to congenital CMV. When CMV infection is diagnosed in the first year of life, treatment with gancyclovir is recommended and is associated with diminished occurrence of SNHL. Previous studies in Tehran showed congenital CMV infection developed in 2.6% of neonates. OBJECTIVE: To determine the role of cytomegalovirus in sensorineural hearing loss in children by comparing the CMV antibodies quantitatively between SNHL and controls. METHODS AND MATERIALS: This case-control study was done in the ENT Department of Hazrat Rasoul Akram Hospital in Tehran (2002-2003). This study was carried out based on diagnostic parameters (AAO criteria) for SNHL and a healthy control. We compared the specific cytomegalovirus antibodies (IgM and IgG measured by ELISA method) in 95 blood samples of infants with SNHL (mean age=35+/-30 months) and 63 healthy matched infants (mean age=38.7+/-27.3 months) as controls. 59.6% of cases were male; 40.4% were female. Acute and previous immunity to cytomegalovirus (IgM and IgG) was found in 34.7% and 72.6% of SNHL children, acute infection detected in 3.5% of controls, previous immunity (IgG) detected in 94.7% of them. Acute CMV infection was higher in the cases (P-value=0.000) but previous immunity (CMV-IgG) was higher in the controls (P-value=0.001). Mean age of cases with acute infection (CMV-IgM) was 40 months and for previous immunity (CMV-IgG) was 35 months in SNHL cases and 40 months in controls, respectively. CONCLUSION: Cytomegalovirus is one of the most common infectious agents in SNHL children compared to the healthy children. Probably both congenital and acquired CMV can induce progressive hearing loss in our cases. We prefer at least in our country to consider seropositive (CMV-IgM) SNHL children (less than 1 year old) as congenital form. But we are not able to differentiate the congenital from the acquired infection in seropositive (CMV-IgM) SNHL children after first year of life. It should be subjected to randomized controlled trial for treatment of acquired type of CMV infection in SNHL children with ganciclovir.     

Post-lingual deafness: benefits of cochlear implants vs. conventional hearing aids

The technological advances in cochlear implants and processing strategies have enabled subjects affected by severe to profound hearing loss to hear sounds and recognize speech in various different degrees. The variability of hearing outcomes in subjects with post-lingual deafness has been significant and cochlear implant indications have been extended to include an ever larger population.ObjectiveThis paper aims to look into the groups of post-lingual deafness patients to find where cochlear implants have yielded better outcomes than conventional hearing aids.Materials and MethodsReview the literature available on databases SciELO, Cochrane, MEDLINE, and LILACS-BIREME. The publications selected for review were rated as A or B on evidence strength on the day of the review. Their authors analyzed and compared hearing aids and cochlear implants in populations of post-lingually deaf patients. Study Design: Systematic review.ResultsEleven out of the 2,169 papers searched were found to be pertinent to the topic and were rated B for evidence strength. Six studies were prospective cohort trials, four were cross-sectional studies and one was a clinical trial.ConclusionThe assessment done on the benefits yielded by post-lingually deaf subjects from cochlear implants showed that they are effective and provide for better results than conventional hearing aids.     

语前聋患儿6岁前与6岁后植入人工耳蜗效果的比较

目的比较6岁前与6岁后两个年龄组语前聋患儿人工耳蜗植入术后的听觉言语康复的效果. 方法对31例语前聋人工耳蜗植入患儿,术后随访0.5～4年,按手术年龄分成A组(1.0～5.9岁)和B组(6.0～17.9岁),进行术后的听觉和言语识别率的评估. 结果 31例语前聋人工耳蜗植入患儿全部手术成功,全部建立了主观听性反应.A组的纯音听力水平平均为30dBSPL,开放式言语识别率平均为90%.B组的纯音听力水平平均为36dBSPL,开放式言语识别率平均为85%. 结论植入人工耳蜗的语前聋患儿1.0～5.9岁与6.0～17.9岁比较,在术后的言语识别率和语言清晰度两方面的听觉言语康复效果有显著性差异,年龄越小效果越好.因此,为达到满意的听觉言语康复效果,人工耳蜗植入的时机最好在6岁之前.