Audiological Symptoms Research Articles

Inner ear symptoms: can we use them to approach cardiovascular diseases?

Sensory organs are programmed to detect external stimuli, and inform about possible threats. In general, they are characterized by a complex architecture, a highly energy-requiring function, a peripheral location and a vascular supply depending on a terminal circulation usually under systemic control. Their function may be highly sensitive to more general disorders primarily involving other organs or physiological systems. Consequently, the onset of transient or persistent symptoms of impairment of sensory organs might be the expression of abnormalities in the integrity of more general systems, especially in the elderly population. In the otologic area, despite the availability of evidence supporting the negative impact of some systemic conditions negatively affecting the local blood supply at the labyrinth level, the possibility that the inner ear can reveal the presence of sub-clinical, non-otologic disorders has never been the topic of a constructive investigation. The present review summarizes the preliminary available evidence suggesting a possible negative impact of early systemic hemodynamic changes on the function of the inner ear, as well as the possibility that some audiological symptoms may play some role in the early detection of cardiovascular diseases. In particular, we hypothesize that some cardiovascular diseases may cause an impairment in correct labyrinthine function as a result of a negative interaction between systemic hemodynamic changes, a reflex activation of the autonomic nervous system, and a local vascular response. A multidisciplinary approach to the interpretation of inner ear disorders may increase the possibility of an earlier recognition and understanding of systemic dysfunctions in clinical practice.

Evolution in Surgical Management of Glomus Tympanicum over 40 Years: A Review of 114 Cases

Objectives: Report surgical management and outcomes among a large cohort of patients with glomus tympanicum (GT) managed by a single tertiary referral group over 4 decades. Methods: Retrospective chart review evaluating all patients that underwent surgical treatment of histopathologically confirmed GT between 1973 and 2013. Pre- and postoperative audiometric outcomes were reported according to American Academy of Otolaryngology—Head and Neck Surgery reporting guidelines and tumor stage was described using the Glasscock-Jackson classification system. Results: A total of 114 patients (90.2% female, mean age 54.0 years) met inclusion criteria. Eleven cases were referred following recurrence, while the remaining 103 patients were treated primarily; 38 (33.3%) GTs were stage I, 52 (45.6%) stage II, 9 (7.9%) stage III, and 15 (13.2%) stage IV. A total of 105 (92.1%) patients underwent gross total removal, while 9 (7.9%) received subtotal resection for advanced disease adherent to the carotid artery and/or facial nerve. Two patients who underwent gross total resection experienced transient facial paresis and one suffered internal carotid injury with stroke. No patients have recurred at a mean follow-up of 39 months. Conclusions: Surgical approach and extent of resection should be tailored to the patient. Gross total resection can be obtained in over 90% of patients, however leaving adherent tumor remnant on the facial nerve or carotid artery should be considered in patients with advanced infiltrative disease in order to prevent unnecessary morbidity. Microsurgical resection remains the treatment of choice for GT providing a high rate of tumor control and improvement in audiologic symptoms.

Semicircular canal dehiscence

In the evaluation of patients with suspected superior (or posterior or lateral) semicircular canal dehiscence syndrome, imaging plays a crucial corroborative diagnostic role. The variable audiologic and vestibular signs and symptoms may be attributed to a third-window phenomenon, directly visible on computed tomography as a defect in the superior or posterior semicircular canals. While the diagnosis must incorporate computed tomography findings with the signs, symptoms, and clinical testing, imaging also provides anatomical information on dehiscence size and location that may help explain the specific clinical presentation and aid in surgical planning.

RTMS induced tinnitus relief is related to an increase in auditory cortical alpha activity.

Chronic tinnitus, the continuous perception of a phantom sound, is a highly prevalent audiological symptom. A promising approach for the treatment of tinnitus is repetitive transcranial magnetic stimulation (rTMS) as this directly affects tinnitus-related brain activity. Several studies indeed show tinnitus relief after rTMS, however effects are moderate and vary strongly across patients. This may be due to a lack of knowledge regarding how rTMS affects oscillatory activity in tinnitus sufferers and which modulations are associated with tinnitus relief. In the present study we examined the effects of five different stimulation protocols (including sham) by measuring tinnitus loudness and tinnitus-related brain activity with Magnetoencephalography before and after rTMS. Changes in oscillatory activity were analysed for the stimulated auditory cortex as well as for the entire brain regarding certain frequency bands of interest (delta, theta, alpha, gamma). In line with the literature the effects of rTMS on tinnitus loudness varied strongly across patients. This variability was also reflected in the rTMS effects on oscillatory activity. Importantly, strong reductions in tinnitus loudness were associated with increases in alpha power in the stimulated auditory cortex, while an unspecific decrease in gamma and alpha power, particularly in left frontal regions, was linked to an increase in tinnitus loudness. The identification of alpha power increase as main correlate for tinnitus reduction sheds further light on the pathophysiology of tinnitus. This will hopefully stimulate the development of more effective therapy approaches.

Neurovascular Compression Syndrome of the Eighth Cranial Nerve

Neurovascular compression syndrome of the eighth cranial nerve is characterized by recurrent audiologic and vestibular symptoms. The clinical presentation is the most important for diagnosing neurovascular compression syndrome of the eighth cranial nerve. This review describes the pathophysiology, diagnosis and treatment of neurovascular compression syndrome of the eighth cranial nerve. � Korean J Otorhinolaryngol-Head Neck Surg 2013;56:677-83

Treating the Signature Injury

Treating the Signature Injury

P49 Otosyphilis: missed opportunities for early treatment?

BackgroundOtosyphilis (OS) is one of the few reversible causes of hearing loss. Audiological symptoms and positive syphilis (SP) serology can be diagnostic of OS. Hearing outcome after treatment is poor and evidence for optimal management is lacking.AimTo identify how OS is managed in our unit.MethodCase collection and notes review.ResultsSeven (6 male, 1 female) patients (pts) with OS were identified between 2007 and 2011, of median age 34 yrs. Of these 7 pts: 6 (86%) had secondary stage and 1 (14%) late stage SP; 6 (86%) were coinfected with HIV (2 testing HIV+ at SP diagnosis); all presented with deafness (bilaterally in 3 pts); all had other symptoms of SP (commonly rash (4, 57%) and ocular involvement (3, 43%)). Of 6/7 pts consenting to lumbar puncture, neurosyphilis was probable in 1 (17%), excluded in 2 (33%) and considered possible in 3 (50%) pts. Median time from audiological symptoms to treatment was 2 months (range 2 days to 6 m). Four (57%) had previously visited a health care professional who failed to diagnose OS. Six (86%) and 5 (71%) pts received a neurological regimen and steroid cover respectively. Overall, hearing improved in 3 (43%) and stabilised in 4 (57%) pts. An improved audiological outcome was seen in 2/3 (67%) pts receiving early treatment (within 1-month of hearing loss) vs 1/4 (25%) of those receiving late treatment and in 3/6 (50%) pts receiving a neurological regimen vs 0/1 pts receiving standard treatment. Median time to treatment was shorter in pts with established HIV infection (2 months) than those testing HIV+ at SP diagnosis or testing HIV neg (3.5 months).ConclusionThis small study identifies a delay to treatment in many cases. Early treatment and treating with a neurological regimen may improve outcome. HIV+ pts may have more regular SP testing, reducing the delay to treatment. OS is uncommon, but with increasing rates of SP nationally, we must be alert to its manifestations and promptly initiate treatment.

Functional and structural evaluation of hearing in acromegaly

The impact of acromegaly on the auditory system remains unknown. This study aimed to examine audiological symptoms and the structure and function of the auditory system in patients with acromegaly. DESIGN/SETTING AND PATIENTS: The study included 44 patients with acromegaly. Pure tone audiometry, speech audiometry, tympanometry, otoacoustic emissions testing, computerized tomography of the temporal bone and magnetic resonance imaging of the ear were performed in all patients. The study also included 36 age- and sex-matched healthy controls. The patients with acromegaly were divided into three subgroups, as follows: controlled disease (n=13); partially controlled disease (n=16); uncontrolled disease (n = 15). In all, 43% of the patients with acromegaly had hearing loss, and 20% had had an episode of otitis in at least one ear. Median pure tone average (PTA) in the patients with acromegaly was 12.5 dB (range: 2-72 dB), vs 8.3 dB (range: 0-20 dB) in the control group (P < 0.001). PTA did not differ significantly between the three patient subgroups. Audiometric tests showed various degrees of hearing loss in at least one ear in 21 patients (48%). Conductive, sensorineural and mixed type hearing loss in at least one ear was noted in 9%, 30% and 18% of the patients, respectively. Auditory imaging showed that 50% of the patients had temporomandibular joint degeneration (TMJD). Hearing loss is quite common in patients with acromegaly. Contrary to common belief, in this study, conductive hearing loss did not occur more frequently than other types. Based on PTA findings in the controls and patients with acromegaly, acromegaly caused hearing loss, but the level of disease activity had no effect on hearing. Middle ear pressure problems might be caused by increased perilymph because of growth hormone (GH)-related volume overload.

Reconhecimento de fala de indivíduos normo-ouvintes com zumbido e hiperacusia

INTRODUÇÃO: O zumbido e a hiperacusia são sintomas audiológicos cada vez mais frequentes que podem ocorrer na ausência do comprometimento da audibilidade, mas não de menor impacto ou incômodo aos indivíduos acometidos. O Sistema Olivococlear Medial auxilia no reconhecimento de fala no ruído e pode estar relacionado com a presença do zumbido e hiperacusia. OBJETIVO: Avaliar o reconhecimento de fala de indivíduos normo-ouvintes sem e com queixas de zumbido e hiperacusia, e comparar os resultados entre os mesmos. MÉTODO: Estudo descritivo, prospectivo e transversal em que foram avaliados 19 indivíduos normo-ouvintes com queixas de zumbido e hiperacusia do Grupo Estudo (GE), e 23 indivíduos normo-ouvintes sem queixas audiológicas do Grupo Controle (GC). Os indivíduos de ambos os grupos foram submetidos ao teste Listas de Sentenças em Português, elaborado por COSTA (1998), para determinar o Limiar de Reconhecimento de Sentenças no Silêncio (LRSS) e a relação Sinal-Ruído (S/R). O GE também respondeu ao Tinnitus Handicap Inventory para análise do zumbido, e para caracterizar a hiperacusia, foram determinados os limiares de desconforto. RESULTADOS: O GC e o GE apresentaram LRSS e relação S/R médios de 7,34 dB NA e -6,77 dB, e de 7,20 dB NA e -4,89 dB, respectivamente. CONCLUSÃO: Os indivíduos normo-ouvintes com ou sem queixas audiológicas de zumbido e hiperacusia apresentaram desempenho semelhante no reconhecimento de fala no silêncio, o que não foi observado quando avaliados na presença de ruído competitivo, uma vez que o GE apresentou desempenho inferior nessa situação de comunicação, inclusive com diferença estatisticamente significante.

Alpha Rhythms in Audition: Cognitive and Clinical Perspectives

Like the visual and the sensorimotor systems, the auditory system exhibits pronounced alpha-like resting oscillatory activity. Due to the relatively small spatial extent of auditory cortical areas, this rhythmic activity is less obvious and frequently masked by non-auditory alpha-generators when recording non-invasively using magnetoencephalography (MEG) or electroencephalography (EEG). Following stimulation with sounds, marked desynchronizations can be observed between 6 and 12 Hz, which can be localized to the auditory cortex. However knowledge about the functional relevance of the auditory alpha rhythm has remained scarce so far. Results from the visual and sensorimotor system have fuelled the hypothesis of alpha activity reflecting a state of functional inhibition. The current article pursues several intentions: (1) Firstly we review and present own evidence (MEG, EEG, sEEG) for the existence of an auditory alpha-like rhythm independent of visual or motor generators, something that is occasionally met with skepticism. (2) In a second part we will discuss tinnitus and how this audiological symptom may relate to reduced background alpha. The clinical part will give an introduction into a method which aims to modulate neurophysiological activity hypothesized to underlie this distressing disorder. Using neurofeedback, one is able to directly target relevant oscillatory activity. Preliminary data point to a high potential of this approach for treating tinnitus. (3) Finally, in a cognitive neuroscientific part we will show that auditory alpha is modulated by anticipation/expectations with and without auditory stimulation. We will also introduce ideas and initial evidence that alpha oscillations are involved in the most complex capability of the auditory system, namely speech perception. The evidence presented in this article corroborates findings from other modalities, indicating that alpha-like activity functionally has an universal inhibitory role across sensory modalities.

Differences at brain SPECT between depressed females with and without adult ADHD and healthy controls: etiological considerations

BackgroundComorbidity between Attention Deficit Hyperactivity Disorder (ADHD) and mood disorders is common. Alterations of the cerebellum and frontal regions have been reported in neuro-imaging studies of ADHD and major depression.MethodsThirty chronically depressed adult females of whom 16 had scores below, and 14 scores above, cut-offs on the 25-items Wender Utah Retrospective Scale (WURS-25) and the Wender-Reimherr Adult Attention Deficit Disorder Scale (WRAADDS) were divided into subgroups designated "Depression" and "Depression + ADHD", respectively. Twenty-one of the patients had some audiological symptom, tinnitus and/or hearing impairment. The patients were investigated with other rating scales and 99mTc-HMPAO SPECT. Controls for 99mTc-HMPAO SPECT were 16 healthy females. SPECT was analyzed by both statistical parametric mapping (SPM2) and the computerized brain atlas (CBA). Discriminant analysis was performed on the volumes of interest generated by the CBA, and on the scores from rating scales with the highest group differences.ResultsThe mean score of a depression rating scale (MADRS-S) was significantly lower in the "Depression" subgroup compared to in the "Depression + ADHD" subgroup. There was significantly decreased tracer uptake within the bilateral cerebellum at both SPM and CBA in the "Depression + ADHD" subgroup compared to in the controls. No decrease of cerebellar tracer uptake was observed in "Depression". Significantly increased tracer uptake was found at SPM within some bilateral frontal regions (Brodmann areas 8, 9, 10, 32) in the "Depression + ADHD" subgroup compared to in "Depression". An accuracy of 100% was obtained for the discrimination between the patient groups when thalamic uptake was used in the analysis along with scores from Socialization and Impulsivity scales.ConclusionThe findings confirm the previous observation of a cerebellar involvement in ADHD. Higher bilateral frontal 99mTc-HMPAO uptake in "Depression + ADHD" compared to in "Depression" indicate a difference between these subgroups. 99mTc-HMPAO uptake mechanisms are discussed.

Diagnostic Value of Cochlear Hydrops Analysis Masking Procedure in Meniere's Disease

Background and ObjectivesZZThe diagnosis of Meniere’s disease is based on audiological test and clinical symptoms. Cochlear Hydrops Analysis Masking Procedure (CHAMP) was introduced as a test for detecting changes in physical characteristics of basilar membrane by hydrops of endolympahtic system. The aim of this study is to evaluate the diagnostic value and usefulness of CHAMP tests for detection of endolymphatic hydrops. Subjects and MethodZZThis study was performed on 11 cases of Meniere’s disease and 10 cases of vestibular neuritis who visited ENT outpatient clinic and 25 cases of normal healthy volunteers. We defined the positive value as being less than 0.3 ms in latency delay (0.5 kHz HPN-click alone) and less than 0.95 nV in compound amplitude ratio (click alone 0.5 kHz HPN/ click alone) regardless of age or sex. ResultsZZThere were significant latency delays in the Meniere’s disease group compared with the vestibular neuritis and normal control group. The amplitude ratio gave significant differences between the Meniere’s disease group and the normal group but there were no differences between the Meniere’s disease group and the vestibular neuritis group. Without assuming the test failure, the sensitivity and specificity of latency delay was 81% and 100%, respectively, and the sensitivity and specificity of amplitude ratio was 100% and 84%, respectively. In 8 of 54 cases (14.8%), we couldn’t get interpretable wave. ConclusionZZCHAMP test is a clinically useful method that can detect endolymphatic hydrops and it can be used as an objective test for the diagonosis of Meniere’s disease. Korean J Otorhinolaryngol-Head Neck Surg 2009;52:956-60 Key WordsZZCochlear hydrops analysis masking procedure·CHAMP·Meniere’s disease.

Efficacy assessment and complications of surgical management for superior semicircular canal dehiscence: a meta-analysis of published interventional studies

Superior semicircular canal syndrome (SSCS) includes vestibular and audiological symptoms which result from the introduction of a third mobile window into the osseous cochlea. Surgical repair is considered in cases of incapacitating symptoms. The present paper aims at comparing the different surgical approaches and modes of dehiscence repair, regarding their respective efficacy and potential pitfalls. A systematic literature review and meta-analysis of pooled data were performed. Study selection included prospective- and retrospective-controlled studies, prospective- and retrospective-cohort studies, ex vivo studies, animal models, case-reports, systematic reviews and clinical guidelines. A total of 64 primary operations for SSC repair were identified; 56 ears were operated for vestibular and 7 for auditory complaints. A total of 33 ears underwent canal plugging, 16 resurfacing, and 15 capping. Success rates were 32/33, 8/16, and 14/15, respectively. The observed differences were statistically significant (P=0.001). Resurfacing proved less effective than both plugging (P=0.002), and capping (P=0.01) techniques. Temporalis fascia was commonly used as sealing material and was combined with bone-pâté/bone-wax (plugging), bone-graft (resurfacing), or hydroxyapatite-cement (capping). Most operations were performed via middle-fossa approach; higher success rates were associated with plugging and capping techniques. SNHL and disequilibrium were the most frequent complications encountered. Most cases were followed for 3-6 months. Precise criteria regarding follow-up duration and objective success measures are not determined. Surgical repair of SSCS is considered as a valid therapeutic option for patients with debilitating symptoms. Consensus regarding strict follow-up criteria and objective assessment of success is necessary before larger scale operations can be implemented in clinical practice.

Reflections on tinnitus by an existential psychologist

Having had many years of experience as a psychologist the author has worked with tinnitus patients and with people with other audiological symptoms for the past 15 years. For five years she was the head of a national counselling service for people with audiological disorders in Denmark. She has been involved in providing individual therapy and group therapy for tinnitus patients. She has organized a telephone counselling service for tinnitus sufferers and has extensive experience of supervising other professionals providing counselling for tinnitus patients. She now runs her own clinic offering psychotherapy for tinnitus sufferers. She offers her patients existential psychotherapy; an approach derived from the existentialist philosophy of the Danish philosopher Søren Kierkegaard. This paper describes that approach and offers reflections on the benefits for tinnitus patients.

Histopathological classification of tympanosclerotic plaques

Tympanosclerotic plaques seen in the middle ear and tympanic membrane as a sequelae of otitis media have different characteristics. Tympanosclerotic plaque consistency shows a wide range from soft to hard during surgical excision and can be classified histologically. The aim of this study is to classify surgically excised tympanosclerotic plaques macroscopically and histologically. Seventeen surgically excised tympanosclerotic tissues were examined otomicroscopically and light microscopically. Otomicroscopically, plaques were classified as type I: soft (four cases), type II: moderately hard (six cases) and type III: very hard (seven cases), according to their consistency and surgical detachment feature. Sections prepared from tympanosclerotic tissues were stained with hematoxylin-eosin, Mallory-Azan and von Kossa stains for light microscopic evaluation. In type I tympanosclerotic tissue, fibroblasts and collagen fibers were equally abundant in typical loose connective tissue. A few small calcium crystals were seen. In type II tympanosclerotic tissue, large bundles of collagen fibers, proliferation of fibroblasts and focal calcification points were seen. In type III tympanosclerotic tissue, round shaped condroblast-like cells located in lacunae and intense calcification points were evident. Tympanosclerotic tissues can be classified in respect of their morphological and histological aspects. Histological classification of tympanosclerotic tissue may inform us about the maturation of the tissue, and therefore the grade of the disease. In type I tympanosclerotic disease, even if complete resection of sclerotic tissue is performed, the underlying process may go on and new sclerotic tissue formation can be expected. Type III sclerotic tissue is associated with limited, inactive disease. Progress of the disease and the patient's benefit from surgery can be interpreted according to this classification. However, these results will need to be verified by long-term patient follow-up and comparison of histological classification and clinical audiological symptoms.

Assessment of Objective Pulsatile Tinnitus in a Patient with Syringohydromyelia

We examined a 38-year-old male with syringohydromyelia and concomitant symptoms suggestive of intracranial hypertension including unilateral low-frequency sensorineural hearing loss and objective pulsatile tinnitus. The tinnitus was heard by the authors (through a hearing aid stethoscope tube), measured objectively (with a probe microphone), measured subjectively (as minimum masking levels and with fixed frequency Bekesy), and altered by changes in ear canal pressure (subjectively reported and measured objectively with a probe microphone). The audiologic symptoms were likely associated with elevated cerebrospinal fluid pressure that traveled to the cochlea through the cochlear aqueduct. The tinnitus may have originated from pulsations of central vascular structures that traveled through the cochlear aqueduct or the endolymphatic duct. Hearing loss likely resulted from tinnitus masking or a stiffening of the cochlear partition or stapes footplate.

Results and Sensitivity of a Comprehensive Audiological and Vestibular Work-Up in 100 Patients Presenting with a Vestibular Schwannoma

Purpose: To determine the results and sensitivity of a comprehensive audiological and vestibular work-up in 100 patients presenting with a vestibular schwannoma (VS). Material and Methods: One hundred consecutive cases of VS diagnosed from January 2004 to May 2005 were prospectively studied. Tumor size was classified according to the Koos classification and hearing was assessed according to the five-step Kanzaki classification. A comprehensive work-up was conducted in all patients, including complete tone and speech audiometry, brainstem evoked audiologic potentials (BEAP), vestibular evoked myogenic potentials (VEMP), and bithermal caloric testing using videonystagmography on both sides. BEAP responses were considered as normal or endocochlear when interwave intervals were normal, absent because of a poor hearing, or retrocochlear when interval between, wave 1 and 5 > 4.3 ms and/or when it differed > 0.25 ms between sides, or when no response was recorded when hearing was preserved. VEMP were considered as normal, absent, or diminished (amplitude 30%) or arreflexia (diminished > 80%). Results: Fifty-six females and 44 males were examined (mean age, 57.8 yrs). Left and right sides were equally affected. Vertigo, tinnitus, and hearing loss were the main presenting symptoms in 21%, 32%, and 68% of cases, respectively. Eighty-two percent were operated, 17% simply monitored, and 1% irradiated. The tumor was Stage 1, 2, 3, and 4 in 14%, 28%, 21%, and 37%, respectively. Hearing was class A in 9%, class B in 34%, class C in 14% and class E-D in 43% of the cases. Globally, BEAP showed a retrocochlear pattern in 64% of the cases and no response in 30%. Abnormal VEMP responses were observed in 94% of the cases. Caloric testing was abnormal in 61% and normal in 11%. Responses could not be analyzed in 28% of patients. Only one patient showed normal responses to the whole work-up (99% sensitivity); she suffered a very small intrameatal tumor and complained of contralateral audiological symptoms. Conclusion: An integrated neurotologic work-up is a powerful tool to diagnose all sizes of VS and is useful in predicting postoperative outcome. However, false-negative results remain possible in small intrameatal tumors (1%).

Imaging the neurobiological substrate of atypical depression by SPECT

Neurobiological abnormalities underlying atypical depression have previously been suggested. The purpose of this study was to explore differences at functional brain imaging between depressed patients with and without atypical features and healthy controls. Twenty-three out-patients with chronic depressive disorder recruited from a service for patients with audiological symptoms were investigated. Eleven fulfilled the DSM-IV criteria for atypical depression (mood reactivity and at least two of the following: weight gain, hypersomnia, leaden paralysis and interpersonal rejection sensitivity). Twenty-three healthy subjects served as controls. Voxel-based analysis was applied to explore differences in (99m)Tc-HMPAO uptake between groups. Patients in the atypical group had a higher prevalence of bilateral hearing impairment and higher depression and somatic distress ratings at the time of SPECT. Significantly higher tracer uptake was found bilaterally in the atypical group as compared with the non-atypicals in the sensorimotor (Brodmann areas, BA1-3) and premotor cortex in the superior frontal gyri (BA6), in the middle frontal cortex (BA8), in the parietal associative cortex (BA5, BA7) and in the inferior parietal lobule (BA40). Significantly lower tracer distribution was found in the right hemisphere in the non-atypicals compared with the controls in BA6, BA8, BA44, BA45 and BA46 in the frontal cortex, in the orbito-frontal cortex (BA11, BA47), in the postcentral parietal cortex (BA2) and in the multimodal association parietal cortex (BA40). The differences found between atypical and non-atypical depressed patients suggest different neurobiological substrates in these patient groups. The putative links with the clinical features of atypical depression are discussed. These findings encourage the use of functional neuroimaging in psychiatric disorders.

302 Hearing Abnormalities in Children with Fabry Disease: Data from FOS - the Fabry Outcome Survey

Background: Fabry disease is an X-linked glycosphingolipid storage disorder due to a deficiency of the enzyme alpha-galactosidase A. Accumulation of substrate results in a progressive and life-threatening multisystemic disease. Early clinical manifestations include pain and gastrointestinal symptoms. Sensorineural hearing loss and vertigo are well-recognized features of the disorder, occurring in approximately 50% of adults with Fabry disease. We have investigated the audiological symptoms of Fabry disease in children using pure-tone and impedance audiometry. Methods: Symptom history was obtained using a standardized questionnaire from FOS − the Fabry Outcome Survey. Hearing was measured using pure-tone audiometry of both air (250–8000 Hz) and bone (500–4000 Hz) conduction thresholds, with masking as appropriate. Impedance audiometry was performed to exclude effusions. Results: Symptom questionnaires were completed by 46 boys and 52 girls, with a median age of 12 (range, 1–18) and 14 (range, 2–18) years, respectively. A total of 15% of both boys and girls complained of dizziness. Tinnitus was reported in 22% of boys and 35% of girls. Generally, the children with hearing loss were found to have different degrees of impairment in each ear. Air conduction thresholds in the ear with the most significant hearing loss were abnormal (> 20 dB) in 20–40% of boys and 10–25% of girls. Approximately 79% of children with ear-related symptoms also complained of neurological pain and gastrointestinal signs and symptoms. Conclusions: Audiological symptoms, especially tinnitus, and abnormal hearing thresholds are not uncommon in children with Fabry Disease. A large proportion of children with audiological symptoms also suffered from pain and gastrointestinal manifestations. A cluster of acroparaesthesiae, gastrointestinal manifestations and hearing abnormalities are therefore suggestive of Fabry disease.

Noise-induced cell death in the mouse medial geniculate body and primary auditory cortex

Noise-induced effects within the inner ear have been well investigated for several years. However, this peripheral damage cannot fully explain the audiological symptoms in noise-induced hearing loss (NIHL), e.g. tinnitus, recruitment, reduced speech intelligibility, hyperacusis. There are few reports on central noise effects. Noise can induce an apoptosis of neuronal tissue within the lower auditory pathway. Higher auditory structures (e.g. medial geniculate body, auditory cortex) are characterized by metabolic changes after noise exposure. However, little is known about the microstructural changes of the higher auditory pathway after noise exposure. The present paper was therefore aimed at investigating the cell density in the medial geniculate body (MGB) and the primary auditory cortex (AI) after noise exposure. Normal hearing mice were exposed to noise (10 kHz center frequency at 115 dB SPL for 3 h) at the age of 21 days under anesthesia (Ketamin/Rompun, 10:1). After 1 week, auditory brainstem response recordings (ABR) were performed in noise exposed and normal hearing animals. After fixation, the brain was microdissected and stained (Kluever–Barrera). The cell density in the MGB subdivisions and the AI were determined by counting the cells within a grid. Noise-exposed animals showed a significant ABR threshold shift over the whole frequency range. Cell density was significantly reduced in all subdivisions of the MGB and in layers IV–VI of AI. The present findings demonstrate a significant noise-induced change of the neuronal cytoarchitecture in central key areas of auditory processing. These changes could contribute to the complex psychoacoustic symptoms after NIHL.