Audiological features of Turner's syndrome in adults

Abnormalities of the ear and hearing are well recognized in Turner's syndrome (TS), which is one of the most common chromosomal abnormalities. Presented here are the preliminary data from a UK study of the audiological features of 113 women over the age of 16 years with TS. Seventeen per cent had normal hearing, 19% had conductive or mixed loss, and 47% had sensorineural hearing loss associated with the TS. The results are discussed with reference to previously published studies and to the lack of consensus on comparative definitional terms in audiology.     

Severe to profound hearing loss in patients with progressed Alport's syndrome

Conclusion: The concept of hearing loss severity must be redefined, as there is a clear need for more active hearing management in Alport's syndrome patients with severe and profound hearing loss. Objectives: Sensorineural hearing loss (SNHL) caused by Alport's syndrome generally does not exceed 60–70 dB, because a cochlear lesion is responsible for this hearing loss. Careful management of renal function improves the prognosis and the longevity of Alport's syndrome patients; it is useful to reassess SNHL caused by Alport's syndrome. Patients and methods: Thirty-two patients with Alport's syndrome were analyzed retrospectively. Pure tone audiograms (PTAs), speech audiograms, and transiently evoked otoacoustic emissions (TEOAEs) were performed. Hearing loss severity was compared to duration of disease and severity of renal dysfunction. We also evaluated the correlation between OAEs and PTAs according to the hypothesis that evoked OAEs would be abnormal even in early stage SNHL in Alport's syndrome. Results: The level of hearing was positively correlated with disease duration. The hearing of the end-stage renal disease (ESRD) group, whose hearing threshold could exceed 70 dB, was worse than that of the non-ESRD group. OAEs were found in patients with normal hearing and mild hearing loss and had no significant early detection value.     

Characteristics of children with unilateral hearing loss

Objective: The purpose of this study was to describe the clinical characteristics of children with unilateral hearing loss (UHL), examine deterioration in hearing, and explore amplification decisions. Design: Population-based data were collected prospectively from time of diagnosis. Serial audiograms and amplification details were retrospectively extracted from clinical charts to document the trajectory and management of hearing loss. Sample: The study included all children identified with UHL in one region of Canada over a 13-year period (2003–2015) after implementation of universal newborn hearing screening. Results: Of 537 children with permanent hearing loss, 20.1% (108) presented with UHL at diagnosis. They were identified at a median age of 13.9 months (IQR: 2.8, 49.0). Children with congenital loss were identified at 2.8 months (IQR: 2.0, 3.6) and made up 47.2% (n?=?51), reflecting that a substantial portion had late-onset, acquired or late-identified loss. A total of 42.4% (n?=?39) showed deterioration in hearing, including 16 (17.4%) who developed bilateral loss. By study end, 73.1% (79/108) of children had received amplification recommendations. Conclusions: Up to 20% of children with permanent HL are first diagnosed with UHL. About 40% are at risk for deterioration in hearing either in the impaired ear and/or in the normal hearing ear.     

The management of children with Down syndrome and profound hearing loss

Introduction: Although, the association between Down syndrome (DS) and conductive hearing loss is well recognized, the fact that a small proportion of these children may have a severe to profound sensorineural hearing loss that could benefit from cochlear implantation (CI) is less well understood. The management of significant co-morbidities in children with DS can delay initial diagnosis of hearing impairment and assessment of suitability for CI can likewise be challenging, due to difficulties conditioning to behavioural hearing tests.

Methods: We performed a retrospective case note review of three children with DS referred to the Manchester Cochlear Implant Programme.

Results: Three illustrative cases are described including CI in a 4 years old. Using conventional outcome measurement instruments, the outcome could be considered to be suboptimal with a Categories of Auditory Performance score of 4 at 6 months post-op and at last follow up. In part, this is likely to reflect the delay in implantation, but the role of cognitive impairment must be considered. The cases described emphasize the importance of comprehensive radiological and audiological assessment in children with DS being considered for CI.

Conclusion: The influence of cognitive impairment upon outcome of CI must be taken into account, but should not be considered a contra-indication to implantation in children with DS. Benefit that might be considered limited when quantified using existing general outcome measurement instruments, may have a significant impact upon psychosocial development and quality of life in children with significant cognitive impairment, or other additional needs.     

CT检查在非突发性单耳感音神经性聋诊疗中的意义

目的：探讨颞骨高分辨率CT在发现单耳感音神经性聋中的诊疗意义,为合理使用医疗资源提供依据。方法：回顾性分析门诊收集的28例不明时间发现的单耳听力下降的年轻患者病史资料及CT检查结果,并结合相关文献对单耳聋的认识做一综述。结果：研究对象均为单耳重度一极重度的感音神经性聋患者,且外中耳均无异常,颞骨高分辨率CT检查发现9例患者有内耳畸形,阳性发现率为32％,其中单侧的内听道狭窄患者有5例（5／9）,单侧共同腔畸形和mondini畸形各1例,前庭与部分半规管融合的畸形2例。19例患者CT检查未发现明显异常,其中4例患者曾有流行性腮腺炎病史。结论：CT检查在发现单耳聋病因方面有一定的意义,可避免患者频繁就医而浪费医疗资源。     

Findings from multidisciplinary evaluation of children with permanent hearing loss

Objectives

To describe clinical findings from a multidisciplinary program for children with permanent hearing loss (PHL).

Methods

Retrospective chart review at a tertiary care children's hospital. Patients: Two hundred patients charts were selected from the population of 260 children with permanent hearing loss presenting between July 2005 and December 2006. Main outcome measures: PHL etiology; radiographic findings; clinical findings by genetics, ophthalmology, developmental pediatrics, speech pathology, and aural rehabilitation.

Results

Etiology of hearing loss was determined in 60% of subjects. Genetic causes of hearing loss were identified or presumed (positive history of first degree relative with hearing loss) in 27% of the children. Structural ear anomalies were found in 20% of children. Among the 36% of children with CNS imaging, abnormal findings were noted in 32%. There were a high rate of ophthalmological findings (53%) among children seen by ophthalmology (n = 105). Neurodevelopmental evaluations were completed in 58% of subjects and clinically significant findings were noted in 68%. Of the 61% of children who receiving received speech/language evaluations, 77% required intervention. Over half of the 40% of subjects who had an aural rehabilitation evaluation needed therapy. There were not significant differences in rates of findings for children with mild or unilateral hearing loss as compared to children with more severe degrees of hearing loss.

Conclusions

Interdisciplinary medical evaluation of children with PHL allows for the identification and treatment of clinically significant ophthalmologic, neurodevelopmental, genetic, and speech/language disorders. A high rate of CNS and temporal bone abnormalities were identified. These findings provide an understanding of the importance of considering thorough medical and developmental evaluations among children who are deaf/hard of hearing.     

Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome

We retrospectively analysed long-term serial audiometry data from patients with branchio-oto-renal (BOR) syndrome to show the features of progression and fluctuation in hearing impairment and relate the findings to age and magnetic resonance imaging (MRI) findings in the petrosal bones. Thirty-two clinically affected BOR patients from six Dutch families (A–F) were included. Audiograms were available in 24 cases, covering followup intervals of between 3 and 30 years, and suitable for individual statistical analysis in 16 cases; 14 cases also had MRI findings. Significant progression in hearing impairment was found in 10 cases, while findings of significant fluctuation were made in seven cases. These findings did not clearly correlate with MRI findings. Substantial fluctuation occurred only in cases followed at a relatively young age. Patients with an enlarged endolymphatic duct and/or sac showed significantly higher sensorineural hearing thresholds than those with either normal MRI findings or cochlear/labyrinthine hypoplasia with or without enlarged duct or sac. We conclude that progressive, fluctuant hearing loss occurred in some BOR patients; however, only young patients showed substantial threshold fluctuation. BOR patients with an enlarged endolymphatic duct and/or sac on MRI seemed to be predisposed to developing more severe hearing impairment.     

Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome

OBJECTIVES/HYPOTHESIS: The objectives were to correlate audiometric thresholds with radiological findings and to determine the prevalence of inner ear radiological abnormalities in patients with hearing loss and Waardenburg syndrome. STUDY DESIGN: The study was a retrospective review of patients with Waardenburg syndrome identified in a pediatric hearing-impaired population and human genetics clinic. METHODS: Nine children with Waardenburg syndrome were identified. Eighty-nine children without sensorineural hearing loss served as control subjects. Clinical data, audiometric thresholds, and radiographic temporal bone measurements in these children were analyzed. RESULTS: Seven children were identified with hearing loss and Waardenburg syndrome. Four children had Waardenburg syndrome type 1, and three children had Waardenburg syndrome type 2. The overall prevalence of hearing loss in the total study population with Waardenburg syndrome was 78%. The mean pure-tone average was 99 dB. All of the children had sensorineural hearing loss. The hearing outcome was stable in 86% of the children. Twelve temporal bones were available for radiological analysis by computed tomography. Enlargement of the vestibular aqueduct was found in 50% of the CT scans. There was a significant difference in measurements of vestibular aqueduct width at the midpoint between the patients with Waardenburg syndrome and the control group (P <.05). There were also significant differences in the measurements of the vestibule (P =.0484), internal auditory canal (P =.0092), and modiolus (P =.0045) between the children with Waardenburg syndrome and the control group. CONCLUSION: A profound sensorineural hearing loss was characteristic of the study population with Waardenburg syndrome. Overall, 100% of patients with hearing loss and Waardenburg syndrome had temporal bone anomalies on at least one measurement of their inner ear, and 50% had an enlargement of the vestibular aqueduct at the midpoint. As shown by computed tomography, enlargement of the vestibular aqueduct and the upper vestibule, narrowing of the internal auditory canal porus, and hypoplasia of the modiolus are features of Waardenburg syndrome.     

Vogt-小柳-原田综合征被误诊为突发性聋1例报告

患者,男,39岁,因右耳听力下降1周伴眩晕于2013年12月20日入院。患者1年前无明显诱因出现双耳鸣,持续性,低调;1周前患者突发眩晕,伴视物旋转,恶心呕吐,双耳鸣加重,右耳听力下降。头颅MRI检查无明显异常。纯音听力检查示：右耳感音神经性聋,高频下降,平均听阈为42dBHL,左耳正常。声导抗检查示：双耳A型曲线。发病后多次在神经内科就诊,行改善血液循环、营养神经等治疗,无好转。     

Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies

OBJECTIVE: Mitochondrial disorders are responsible for a variety of neurological syndromes. Specific mitochondrial DNA mutations have been identified recently in some of these rare disorders. Clinical symptoms may occur in different organs to various extent; often they are associated with progressive hearing loss. The aims of this study were to determine incidence, onset, and characteristics of hearing loss in children with mitochondrial encephalomyopathies and to investigate a possible correlation between the degree of hearing loss and neurological symptoms. In addition, we investigated the prognostic value of hearing loss as a predictor of the disease. STUDY DESIGN: From August 1992 to September 1998, 29 patients ranging in age from 5 to 23 years (mean years) were studied. These children were hospitalized for diagnostic purposes in the neuropediatric department. METHODS: The mitochondrial disorder was diagnosed by clinical and laboratory testings, including analysis of the mtDNA. Audiological evaluation consisted of measurements of pure-tone and speech audiometry, tympanometry, and acoustic refle- threshold testing, auditory brainstem response, and evoked as well as distortion-product otoacoustic emissions. RESULTS: A sensorineural hearing loss was identified in 12 children. Three of these were diagnosed as having classic Kearns-Sayre syndrome; five as having multisystem KSS; two as having the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); one as having KSS-MELAS overlap syndrome; and one as having Friedreich ataxia. Longitudinal testing was performed in seven children, and in all of them a progression of the hearing loss could be demonstrated. Audiological test results in all 12 children suggested cochlear as well as retrocochlear origin of the hearing loss presenting independently from the severity of hearing impairment. No correlation between the characteristics and degrees of hearing loss and the number and severity of clinical neurological symptoms could be found. CONCLUSIONS: The present study demonstrated a high incidence (42%) of sensorineural hearing loss in children with mitochondrial encephalomyopathies. The progressive nature of the hearing impairment was confirmed by a significant correlation between the duration in years and severity of hearing loss in the children. The hearing loss does not have a prognostic value for the progression of the disorder. Based on our findings, we recommend regular audiometric examinations in patients with mitochondrial disorders.     

Cochrane corner: platinum-induced hearing loss after treatment for childhood cancer

This Cochrane Corner features the review entitled “Platinum-induced hearing loss after treatment for childhood cancer” published in 2016. In their review, van As et al. identified 13 cohort studies including 2837 participants with a hearing test after treatment with a platinum-based therapy for different types of childhood cancers. All studies had problems related to quality of the evidence. The reported frequency of hearing loss varied between 1.7% and 90.1% for studies that included a definition of hearing loss; none of the studies provided data on tinnitus. Only two studies evaluated possible risk factors. One study found a higher risk of hearing loss in people treated with the combination of cisplatin plus carboplatin compared to treatment with cisplatin only and for exposure to aminoglycosides. The other found that age at treatment (lower risk in older children) and single maximum cisplatin dose (higher risk with an increasing dose) were significant predictors for hearing loss, while gender was not. This systematic review shows that children treated with platinum analogues are at risk of developing hearing loss, but the exact prevalence and risk factors remain unclear.     

Treatment of hyperacusis in Williams syndrome with bilateral conductive hearing loss

Williams syndrome (WS) is a rather rare congenital disorder characterised by a series of cardiovascular, maxillo-facial and skeletal abnormalities. It sometimes displays otorhinolaryngological symptoms because of the relatively high incidence of secretory otitis media and hyperacusis, which may be present in up to 95% of patients. The present paper describes a case of WS associated with bilateral conductive hearing loss which was not related to secretory otitis media. Hyperacusis was, moreover, present in spite of the conductive deafness. Surgical or prosthetic treatment of hearing loss was delayed because of hyperacusis. Treatment of the hyperacusis by acoustic training, instead, yielded excellent, long-lasting remission of the symptoms. Received: 14 July 2000 / Accepted: 12 April 2001     

Comparison between hearing screening-detected cases and sporadic cases of delayed-onset hearing loss in preschool-age children

Abstract

Objective: This study aimed to compare the diagnosis and ages of intervention for cases of delayed-onset hearing loss identified sporadically or via a preschool hearing screening program. Design: Retrospective study with the comparative analysis of two groups of children. Study sample: Cases identified from screening were selected from 34 321 preschool children who underwent screening for delayed-onset hearing loss between October 2009 and May 2011. Sporadic cases of delayed-onset hearing loss were selected from pediatric clinical records. Cases from the first group were excluded from the latter to avoid duplication. Two groups were given the same questionnaire to record risk indicators, diagnosis, and age at intervention. Results: The average age of 26 children at the time of diagnosis in the screening group (52.81 ± 13.23 months) was significantly earlier than in the 33 cases identified in the sporadic group (62.03 ± 12.86 months; p < 0.05). The age at intervention of children with bilateral moderate to severe hearing loss in the screening group (50.40 ± 10.76 months) was also earlier than in the sporadic group (62.73 ± 13.77 months; p < 0.05). Conclusions: Improved rates of early diagnosis could therefore be achieved with hearing screening for preschool children with no significant symptoms of delayed-onset hearing loss.     

Hearing loss among patients with Turner's syndrome: literature review

IntroductionTurner's syndrome (TS) is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem.ObjectivesTo review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS.MethodsA bibliographic search was performed in the Medline and Lilacs databanks (1980-2012) to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes.ConclusionsRecurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq). Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.     

Correction of progressive hearing loss in superior canal dehiscence syndrome

A 44-year-old woman presented with typical vestibular symptoms of superior semicircular canal dehiscence syndrome (SSCDS). In addition, the patient experienced a rapidly progressive mixed hearing loss in the affected ear prior to surgical intervention that was unresponsive to oral steroid administration. Following middle fossa craniotomy with repair of the dehiscence, the patient's mixed hearing loss resolved to normal levels with no air-bone gap. In this report, we discuss the possible etiology of this rapidly progressive hearing loss and its implications on the differential diagnosis of patients with new onset mixed hearing losses. We also contrast the index case of progressive mixed loss with the more frequent conductive hearing loss seen in SSCDS.