Ear and hearing problems in relation to karyotype in children with Turner syndrome

The aim of the study was to report otologic and audiologic characteristics in a group of children with Turner syndrome (TS) and correlate these findings to karyotype. Additionally, we give recommendations for the otologic care of these children. Sixty children (age 1.7-21.2 years) were included in this retrospective study. Medical history and karyotypes were recorded and otologic and audiologic evaluation was performed. A history of recurrent otitis media was reported in 41/60 (68%) children and 3/60 (5%) had suffered from cholesteatoma. Audiometric data in 56 children revealed that normal hearing was only present in 33/112 (29%) ears. All other ears 79/112 (71%) were classified in five different audiometric categories for hearing loss. Hearing thresholds in general appeared to be about 10-11 dB worse in children with a monosomy 45,X or isochromosome (both have a total deletion of the short (p) arm of the X-chromosome) compared to those having a mosaicism or structural anomaly (partial deletion, or total deletion in only a few cells). Our findings support the hypothesis that hearing can be affected by loss of the p-arm of the X-chromosome. It is for the first time that a relation between hearing problems and karyotype is statistically confirmed in a large group of children with TS.     

Ear and hearing problems in Turner's syndrome

OBJECTIVES: To report hearing results in Swedish women with Turner's syndrome (TS), describe the recommendations of the Otologic Section of the Swedish Turner Academy for handling these patients and discuss the effect of estrogen on hearing in animals. MATERIAL AND METHODS: Audiometric and karyotype tests were performed in 325 Swedish women with TS. A questionnaire was completed by 143 females with TS. Immunohistochemical staining of inner ear specimens was undertaken using antibodies against estrogen receptors in both human fetuses with TS and middle-aged women. Temporal bones obtained from various animal species were also studied immunohistochemically. RESULTS: A total of 61% of the women had suffered from otitis media. A senorineural dip in hearing could be observed as early as the age of 6 years, progressed over time and was related to karyotype. The results of the questionnaire revealed that hearing impairment was rated as the fourth most serious problem associated with TS. The immunohistochemical study confirmed that estrogen receptors are present in the inner ear of humans. The animal experiments showed that estrogen receptors were present at almost equal amounts in rats, mice, TS mice, beta knockout mice and ovariectomized rats and at the same localization as in the human inner ear. CONCLUSIONS: Both the senorineural dip in hearing and the karyotype can be used to predict the future course of hearing problems in TS patients. Estrogen may have an effect on hearing loss in TS patients but this phenomenon requires further investigation.     

Otitis media and hearing loss in Turner syndrome

Twenty-two phenotypic females with Turner syndrome underwent prospective otologic evaluation including a standard history, physical examination, audiogram, and tympanogram. Eight of these patients had computed tomography of the temporal bones. Eighty-two percent of the patients had a history of chronic or recurrent ear infections. Eleven patients (50%) had previous myringotomy and tube placement and 4 (16%) had undergone tympanoplasty or tympanomastoidectomy for sequelae of otitis media. Ten patients (45%) had middle ear effusions evident on examination. Sixteen patients (73%) had hearing loss in at least one ear at the time of examination. Sensorineural losses were evident in 37% of patients. No malformations of the otic capsule were noted on computed tomography. The high prevalence of both hearing loss and otitis media in Turner syndrome warrants otologic and audiologic assessment of patients with this chromosomal anomaly.     

Evaluation of hearing organ in patients with Turner syndrome

Hearing loss and middle ear diseases are often reported in some of Turner patients. In most of the reports hearing organ was evaluated with the use of subjective methods. The aim of the work was subjective and objective evaluation of hearing organ with an attempt to set the correlation between the results and the genotype of the patients with Turner syndrome (Ts). MATERIAL: 51 Ts patients aged 14.3 years on average. There were 29 girls with monosomy X and 22 having mosaicism. A detailed medical history was taken in each case with attention given to the hearing loss risk factors. METHOD: Physical ENT examination, hearing evaluation: pure tone audiometry, impedance audiometry, distortion products otoacoustic emissions (DPOAEs), brain auditory evoked potentials (BAEP). The control group consisted of 30 healthy patients. RESULTS: Recurrent acute otitis media was reported by 19.6% of Ts patients. Pure tone audiometry was improper in 36.3% ears; conductive hearing loss was present in 11.7% ears, mixed hearing loss in 5.9% ears and the moderate sensorineural hearing loss in 18.6% ears. Impedance audiometry was impaired in 14.7% of the cases. DPOAE disturbances were present in 41.4% of Ts patients, BAEP was improper in 52.0%. The percentage of the disturbances in DOPAEs and in BAEP in patients with mosaicism was 45.4 and 40.9% while in patients with monosomy 68.9 and 62%. CONCLUSIONS: Ts patients present predisposition to hearing disturbances. The disturbances seem to be connected with middle ear infections and with sensorineural hearing losses. Hearing loss in Ts women is not clinically apparent in most of the cases; this fact reflects the need of early evaluation and further monitoring of hearing organ in those patients. Sensorineural hearing loss seems to prevail in patients with 45,X genotype, so perhaps attention should be paid to this subgroup of Ts patients.     

Early-onset sensorineural hearing loss in a child with Turner syndrome

Turner syndrome is among the more common but less familiar syndromes that include sensorineural hearing loss and middle ear disease. This article provides a review of the syndrome, an illustrative case, and a review of specific issues relevant to audiologic management of patients with Turner syndrome.     

The skull base and nasopharynx in Down's syndrome in relation to hearing impairment

Children with Down's syndrome have a higher incidence of middle ear effusion than normal children. Twenty-eight patients with Down's syndrome and 33 age and sex-matched normal controls were studied. They were subdivided into 2 further matched groups on the basis of having normal or impaired hearing. Each underwent pneumatic otoscopy, audiometry and lateral head and neck radiography. This study examines radiological parameters to determine whether skeletal or soft tissue factors within the skull base or nasopharynx could be implicated as a cause or diagnostic feature of Eustachian tube dysfunction. The nasopharynx tended to be smaller in those with Down's syndrome and this resulted in a reduction in the airway size due to encroachment by the soft tissues. The angle between the base of skull and hard palate was significantly less acute in those with Down's syndrome and in those with hearing loss.     

The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome

The study has investigated the relationship between the chromosomal aberration and ear and/or hearing disorders in 115 girls/women with Turner syndrome (TS). A dose-response relationship was found between the karyotype and hearing function. Hearing deteriorated more rapidly with increasing age in TS women lacking the whole p-arm of chromosome X (i.e. monosomy 45,X, or isochromosome cases 46,X,i(Xq)) as compared to women having a partial deletion of the p-arm (structural deletions or mosaicism cases), who, in turn, had poorer hearing than a female random population sample (46,XX) (P<0.001). Moreover, TS subjects having total deletion of the p-arm were three times more likely to have auricular anomalies or conductive hearing loss due to otitis media than subjects with partial deletion (P<0. 05). The results support the hypothesis that lack of growth-regulating genes such as the short stature homeobox-containing gene (SHOX), which is located within the pseudo-autosomal region on the p-arm of the X chromosome, may increase the occurrence of auricular malformations and otitis media and also induce an earlier loss of hearing function. Accordingly, the ear and hearing disorders in TS may be a result of growth disturbances of the auricle, the mastoid, the Eustachian tube and the organ of Corti during development. It is suggested that karyotype may be used as a predictor for future ear and hearing problems in TS.     

Otologic disorders in Turner syndrome

IntroductionPatients with Turner syndrome (TS) have craniofacial malformations, such as Eustachian tube hypoplasia and dysfunction and velar dysfunction, which foster acute otitis media. The aim of this study was to inventory pediatric otologic disorders in patients with TS at their first ENT consultation in our center.Patients and methodsWe reviewed the ENT consultation data of pediatric TS patients followed in our center between 2005 and 2015: otoscopy, hearing threshold, and history of acute otitis media or ENT surgery. Data were compared according to karyotype: X monosomy (45,X), mosaic (45,X/46,XX), isochromosome (46,Xi [Xq]), X ring chromosome X (XrX), with Y material, and “other”.ResultsNinety patients, with mean age 11.9 years (± 4.8 years) at first ENT consultation, were included: 29% showed tympanic abnormality on otoscopy, 21% had hearing loss, 24% had history of recurrent acute otitis media; 18% had undergone adenoidectomy, 24% T-tube insertion, and 5.6% tympanoplasty. No particular karyotype was associated with higher risk of hearing loss or acute otitis media.ConclusionPatients with TS showed high prevalence of pediatric otologic disorders; they therefore require close and prolonged ENT follow-up.     

Cognitive function in relation to hearing aid use

Two experiments were conducted to investigate possible relationships between cognitive function and hearing aid use. In Experiment 1, 72 first-time hearing aid users were tested for speech recognition in noise (Hagerman sentence test) with and without hearing aids. Cognitive function was assessed by tests of working memory (reading span test) and verbal information-processing speed. The results indicate that, after controlling for age and hearing loss, significant correlations exist between the measures of cognitive performance and speech recognition in noise, both with and without hearing aids. High cognitive performance was associated with high performance in the speech recognition task. In Experiment 2, 17 first-time hearing aid users with either high or low working-memory capacity tested an experimental hearing aid which processed the sound differently depending on whether or not speech was detected. The results revealed that those with high working-memory capacity were better than those with low capacity at identifying and reporting the specific processing effects of the aid. This may have implications for how reported results should be interpreted in a research context, how a person's rehabilitation needs are formulated, and how hearing aid controls should be supervised. In conclusion, careful attention should be paid to the cognitive status of listeners, as it can have a significant influence on their ability to utilize their hearing aids.     

Sudden hearing loss in chronic hepatitis C patient suffering from Turner syndrome, treated with pegylated interferon and ribavirin

Sudden hearing loss is a very rare complication of interferon-alpha treatment. At this time, hearing loss in patients treated with pegylated interferon and ribavirin has only been described in two reports. We present a case of a 27-year-old patient who was diagnosed with Turner syndrome, treated for hepatitis C with pegylated interferon and ribavirin, and suffered from hearing loss during the 10th week of treatment. Audiometric examination revealed a bilateral sensorineural hearing loss (SNHL). Auditory brainstem response (ABR) measures confirmed the diagnosis. We decided to comply with the patient's request to continue therapy, which only led to slight further deterioration of the patient's hearing ability. However, 18 months after the end of therapy a follow-up audiometric examination disclosed a bilateral SNHL.     

Sudden hearing loss in chronic hepatitis C patient suffering from Turner syndrome,treated with pegylated interferon and ribavirin

Sudden hearing loss is a very rare complication of interferon–alpha treatment. At this time, hearing loss in patients treated with pegylated interferon and ribavirin has only been described in two reports. We present a case of a 27-year-old patient who was diagnosed with Turner syndrome, treated for hepatitis C with pegylated interferon and ribavirin, and suffered from hearing loss during the 10^th week of treatment. Audiometric examination revealed a bilateral sensorineural hearing loss (SNHL). Auditory brainstem response (ABR) measures confirmed the diagnosis. We decided to comply with the patient's request to continue therapy, which only led to slight further deterioration of the patient's hearing ability. However, 18 months after the end of therapy a follow-up audiometric examination disclosed a bilateral SNHL.     

小儿助听器选配中RECD(真耳-耦合腔差值)的运用

资料显示，在给儿童测听和选配助听器的过程中，使用传统的成人选配方法往往得不到准确结果。由于儿童的认知能力有限，无法像成年人那样互动自主地改变助听器的设置，这就需要助听器选配人员具有丰富的经验和正确的方法，才能使儿童助听器的选配更加精确。儿童的耳道声学特性与成人有较大的差异．这种差异随     

共创有声世界促进社会和谐——写在第八个全国"爱耳日"到来之际

听力障碍是影响人类健康水平和生活质量的重要因素之一。2005年世界卫生组织公布的数据显示，全球目前有2．78亿听力障碍人士，其中80％生活在低收入和中等收入国家。一项欧盟对听力障碍人士进行干预与否的成本效益研究表明，对听力残疾者加强干预后的成本效益比高达264．89％，这说明加强相对少量的早期投入对于减少听力语言残疾者个人、家庭以及国家、社会的经济负担具有关键性的意义。该研究对我国听力语言康复行业同样具有重要的参考价值。     

Ear disease and hearing loss among Navajo children--a mass survey

A team of trained technicians in a specially equipped mobile van conducted a mass screening effort on the Navajo Reservation from 1978 to 1980 to detect and refer individuals with ear disease and hearing loss; 15,890 school children were examined. The prevalence data and correlations of hearing level with ear disease are presented: 4.0% of the children had TM perforations, 2.3% middle ear effusions, 1.9% TM atelectasis, and 0.4% had sensorineural hearing loss. Microtia was found in 1:935, with a cluster on the Western one-fourth of the reservation. Cholesteatoma was rare. The patterns of ear disease are contrasted with other groups.     

The acoustic reflex threshold in relation to noise-induced hearing loss

In 100 consecutive cases with severe noise-induced hearing loss, pure-tone threshold measurements revealed symmetric hearing losses with maximum shifts at 4000 and 6000 Hz. Acoustic reflex measurements showed that few patients had an elevated pathologic reflex threshold. In contrast, we found a depressed acoustic reflex sensation level (i.e., the difference, in decibels, between pure-tone threshold and acoustic reflex threshold) suggesting a cochlear localization of the injury. Consequently, the probability of retro-cochlear involvement was small, or the cochlear component dominated the retro-cochlear one. The relation between the absence of the acoustic reflex and the degree of hearing loss showed that even at a pure-tone threshold of 80 dB HL, 50% of the ears still had an elicitable acoustic reflex. Statistical analysis yielded a significant correlation between acoustic reflex sensation level and speech discrimination, but no such correlation between acoustic reflex threshold and speech discrimination. We suggest that acoustic reflex sensation level should be a complement to the acoustic reflex threshold in order to distinguish between different localizations of sensorineural hearing losses.