Acoustic Immittance Research Articles

Establishing Wideband Tympanometry Clinical Normative Data for the Iranian Young Adult Population

Background and Objectives: Wideband acoustic immittance (WBT) is a new method for assessing middle ear status by using a wide spectrum stimulus instead of the traditional 226 Hz probe tone. This study focuses on establishing normative data for WBT in the Iranian young adults. We aim to provide clinicians with specific norms for the Iranian population to enhance accuracy in diagnosing middle ear conditions and diseases. Methods: The research involved 20 healthy Iranian young adults who underwent WBT measurements. Results: Results showed differences in the WBT parameters compared to other populations, emphasizing the importance of using ethnicity-specific norms in clinical evaluations. Conclusion: The findings can help in diagnosing various middle ear disorders and monitoring treatment progress.

Audiological Characterization of Individuals with Cornelia de Lange Syndrome.

Introduction Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate. Objective To characterize the audiological profile of individuals with CdLS through behavioral, electroacoustic, and electrophysiological audiological assessments. Methods The study included 13 individuals of both sexes, aged between 3 and 26 years, with diagnoses confirmed through genetic studies. The following procedures were performed: medical history survey, otoscopy (pure-tone audiometry [PTA], speech audiometry, and acoustic immittance measures), and auditory brainstem response (ABR). Results In total 62.50% of the participants who underwent PTA had abnormal results (all of which were mild), with a predominance of bilateral conductive hearing loss (60%). Regarding tympanometry, 76.93% had abnormal results, most frequently type B (85.72% on the right and 88.89% on the left ear). Acoustic reflexes showed results compatible with tympanometry changes. Changes in ABR latency values compatible with middle-ear impairment were found in 8 of them (66.66%) - 3 had bilateral (37.50%), and 5 had unilateral impairments (62.50%). Conclusion Mild hearing loss was identified in 62.5% of the individuals with CdLS who underwent the behavioral audiological assessment. In the acoustic immittance measures, 76.9% of the participants presented a tympanometry curve characteristic of middle-ear changes. Acoustic reflexes were absent in 84.6% of the subjects. In the ABR, no changes were identified in auditory pathway integrity. On the other hand, changes in the absolute latency values were found, which are characteristic of conductive hearing loss.

Clinical value of wideband acoustic immittance in the diagnosis of otitis media with effusion under negative intratympanic pressure in adults

Background Normative clinical values for wideband acoustic immittance (WAI) are not well-established. Aims This study aims to define the normative contour plot characteristics of WAI and evaluate its diagnostic value in detecting tympanic effusion. Materials and methods Data were collected from subjects with normal hearing (76 ears) and type C tympanograms on 226-Hz tympanometry (130 ears). Matlab was used to process and analyze the data. The maximum absorbance of WAI was used as the primary indicator, and the receiver operating characteristic (ROC) curve was drawn to determine the optimal cut-off value. WAI contour plots were compared to 226-Hz tympanometry and otoendoscopy, the latter being the gold standard. Results Mean WAI plots in the normal group showed single peaks (absorbance, >70%) and a nearly symmetrical distribution of the peak area around the 0 daPa pressure line. The ROC curve indicated an AUC value of 0.910, with 78% as the optimal cut-off value of maximum absorbance for detecting effusion. WAI demonstrated better diagnostic performance (sensitivity: 82.26%, specificity: 86.76%, kappa: 0.691) than 226-Hz tympanometry (sensitivity: 61.29%, specificity: 61.76%, kappa: 0.230). Conclusions and significance Normative WAI values were established, and WAI proved more accurate than 226-Hz tympanometry for identifying tympanic effusion, offering valuable guidance for selecting treatment options.

Advancements in Pediatric Audiological Assessments Using Wideband Acoustic Immittance: A Review.

This study's objectives were to explore the potential of wideband acoustic immittance (WAI) as a diagnostic tool, examining its accuracy and efficiency in pediatric audiology. A narrative review of the contemporary literature was conducted, focusing on studies that assessed the use of WAI in diagnosing pediatric auditory conditions. Key variables such as diagnostic accuracy, efficiency, and clinical outcomes were considered. This review highlighted that WAI offers a broader range of test frequencies and more comprehensive diagnostic information compared with traditional tympanometry. The studies indicated that WAI has the potential to improve diagnostic accuracy and efficiency in pediatric audiology. Distinct patterns of wideband absorbance were identified, enabling more detailed and accurate diagnostic evaluations. WAI shows substantial potential as a diagnostic tool in pediatric audiology, offering improvements in diagnostic accuracy and efficiency over traditional methods. While the initial findings are promising, further research is needed to fully understand its applicability and benefits across different pediatric populations. Future studies should aim to validate the clinical utility of WAI to ensure its widespread adoption in pediatric audiological assessments.

The therapeutic use of exosomes in children with adenoid hypertrophy accompanied by otitis media with effusion (AHOME): a protocol study

BackgroundThe adenoids act as a reservoir of bacterial pathogens and immune molecules, and they are significantly involved in children with otitis media with effusion (OME). As an essential carrier of intercellular substance transfer and signal transduction, exosomes with different biological functions can be secreted by various types of cells. There remains significant uncertainty regarding the clinical relevance of exosomes to OME, especially in its pathophysiologic development. In this study, we will seek to determine the biological functions of exosomes in children with adenoid hypertrophy accompanied by OME (AHOME).MethodsThe diagnostic criteria for OME in children aged 4–10 years include a disease duration of at least 3 months, type B or C acoustic immittance, and varying degrees of conductive hearing loss. Adenoidal hypertrophy is diagnosed when nasal endoscopy shows at least 60% adenoidal occlusion in the nostrils or when nasopharyngeal lateral X-ray shows A/N > 0.6. Children who meet the indications for adenoidectomy surgery undergo adenoidectomy. Peripheral blood, nasopharyngeal swab, and adenoid tissue will be collected from patients, and the exosomes will be isolated from the samples. Following the initial collection, patients will undergo adenoidectomy and peripheral blood and nasopharyngeal swabs will be collected again after 3 months.Expected resultsThis study aims to identify differences in exosomes from preoperative adenoid tissue and peripheral blood samples between children with AHOME and those with adenoid hypertrophy alone. Additionally, it seeks to determine changes in microbial diversity in adenoid tissue between these groups.ConclusionsThe findings are expected to provide new insights into the diagnosis and treatment of OME, to identify novel biomarkers, and to enhance our understanding of the pathophysiology of OME, potentially leading to the development of innovative diagnostic and therapeutic approaches.

Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome.

Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated conductive losses seemingly related to the absence of the elastin gene and mild to profound sensorineural losses due to cochlear fragility. Objective To characterize and compare the peripheral auditory system and auditory brainstem response (ABR) of adults with WS and neurotypical adults matched by age and gender. Methods We conducted a cross-sectional observational study with 30 individuals of both sexes, aged 18 to 37 years - 15 of them with WS (study group) and 15 with neither the syndrome nor hearing complaints (control group), matched for sex and age. The subjects underwent pure-tone and speech audiometry, acoustic immittance, transient-evoked otoacoustic emissions (TEOAEs), and ABR. Results Early-onset sensorineural hearing loss was found in 53.3% of the study sample, mostly mild, occurring above 3 kHz. The TEOAEs were absent in 53.3% of assessed subjects; for those in whom they were present, the signal-to-noise responses were significantly lower than in the control group. In the ABR, increased absolute latencies were observed in waves I and III. Conclusion Individuals with WS have early and progressive cochlear impairments, mainly affecting the basal region of the cochlea. They may have low brainstem changes which seem to begin in adulthood.

A retrospective study on hearing outcomes of infants of COVID-19 mothers pre-vaccination era

Background: A COVID-19 infection can result in a variety of symptoms. Findings must be carefully reviewed because there is still a dispute over the potential involvement of the audiovestibular system. Moreover, there is debate over the intrauterine transfer of COVID-19 infection from mother to fetus in pregnant people. There are not many investigations on the audiovestibular symptomatology of infants exposed to COVID-19 during pregnancy. Aims and Objectives: This study looks at any potential links between the COVID-19 gestational infection and the start of hearing impairment in babies. The verification of hearing’s engagement in COVID-19 allows for the planning of the time and methods for children’s audiological evaluations. Materials and Methods: Newborns had audiological examination and screening for hearing loss. The automatic transient evoked otoacoustic emissions (OAEs) test is used to evaluate newborns for hearing impairments before they are released from the hospital. By employing the COVID-19 case history, otoscopy, acoustic immittance test, transient evoked OAEs test, and mother, pregnancy, and perinatal case histories, an audiological examination is conducted on children under 3 months of age, with 2 weeks, 1 month and 3 months of age follow-up. Results: The research comprised 100 children. Of these infants, 90% were part of the neonatal hearing screening initiative. Due to isolation protocols, the remaining 10 neonates did not undergo hearing screening; instead, a direct audiological examination was performed on them. Out of the 90 newborns that were tested, only 11 had a bilateral REFER test result, but the audiological examination revealed a normal hearing threshold. Conclusion: There is no data in this study that a mother’s COVID-19 infection results in hearing loss in newborn.

Predictive accuracy of wideband absorbance in children with large vestibular aqueduct syndrome: A single-center retrospective study

ObjectivesThis study aimed to assess the clinical significance of Wideband Absorbance (WBA) in children with Large Vestibular Aqueduct Syndrome (LVAS), which could potentially serve as diagnostic and predictive markers for LVAS in children. DesignThis was a single-center retrospective case-control study. Audiological measurements and Wideband Acoustic Immittance (WAI) were performed. Propensity score matching (PSM) was considered to treat group imbalance. The Receiver Operating Characteristic (ROC) curves and area under the ROC curve (AUC) were used to evaluate the sensitivity and specificity of WBA. Study sampleParticipants included 42 children with LVAS and 163 normal children aged 6 months −11 years recruited from clinical audiology settings between 2019 and 2021. ResultsThe WBA at Tympanometric Peak Pressure (WBATPP) and Ambient Pressure (WBAA) in the LVAS group were significantly lower than those of the control group at 1259–2000 Hz but higher at 4000–6349 Hz (p < 0.05, power >0.8). The WBAA (1587 Hz) AUC value was 0.805, identifying a score ≤0.565 as indicative of a LVAS risk. ConclusionsWBA holds promise in distinguishing LVAS from the normal condition and warrants further exploration as a tool to examine the influence of inner ear pressure on acoustic energy transmission in the middle ear.

Preliminary results of classifying otosclerosis and disarticulation using a convolutional neural network trained with simulated wideband acoustic immittance data

Current noninvasive methods of clinical practice often do not identify the causes of conductive hearing loss due to pathologic changes in the middle ear with sufficient certainty. Wideband acoustic immittance (WAI) measurement is noninvasive, inexpensive and objective. It is very sensitive to pathologic changes in the middle ear and therefore promising for diagnosis. However, evaluation of the data is difficult because of large interindividual variations. Machine learning methods like Convolutional neural networks (CNN) which might be able to deal with this overlaying pattern require a large amount of labeled measurement data for training and validation. This is difficult to provide given the low prevalence of many middle-ear pathologies. Therefore, this study proposes an approach in which the WAI training data of the CNN are simulated with a finite-element ear model and the Monte-Carlo method. With this approach, virtual populations of normal, otosclerotic, and disarticulated ears were generated, consistent with the averaged data of measured populations and well representing the qualitative characteristics of individuals. The CNN trained with the virtual data achieved for otosclerosis an AUC of 91.1 %, a sensitivity of 85.7 %, and a specificity of 85.2 %. For disarticulation, an AUC of 99.5 %, sensitivity of 100 %, and specificity of 93.1 % was achieved. Furthermore, it was estimated that specificity could potentially be increased to about 99 % in both pathological cases if stapes reflex threshold measurements were used to confirm the diagnosis. Thus, the procedures’ performance is comparable to classifiers from other studies trained with real measurement data, and therefore the procedure offers great potential for the diagnosis of rare pathologies or early-stages pathologies. The clinical potential of these preliminary results remains to be evaluated on more measurement data and additional pathologies.

Effects of Tympanic Membrane Electrodes on Sound Transmission From the Ear Canal to the Middle and Inner Ears.

The first objective of the study was to compare approaches to eardrum electrode insertion as they relate to the likelihood of introducing an acoustic leak between the ear canal and eartip. A common method for placing a tympanic membrane electrode involves securing the electrode in the canal by routing it underneath a foam eartip. This method is hypothesized to result in a slit leak between the canal and foam tip due to the added bulk of the electrode wire. An alternative approach involves creating a bore in the wall of the foam tip that the electrode can be threaded through. This method is hypothesized to reduce the likelihood of a slit leak before the electrode wire is integrated into the foam tip. The second objective of the study was to investigate how sound transmission in the ear is affected by placing an electrode on the eardrum. It was hypothesized that an electrode in contact with the eardrum increases the eardrum's mass, with the potential to reduce sound transmission at high frequencies. Wideband acoustic immittance and distortion product otoacoustic emissions (DPOAEs) were measured in eight human ears. Measurements were completed for five different conditions: (1) baseline with no electrode in the canal, (2) dry electrode in the canal but not touching the eardrum, secured underneath the eartip, (3) dry electrode in the canal not touching the eardrum, secured through a bore in the eartip (subsequent conditions were completed using this method), (4) hydrated electrode in the canal but not touching the eardrum, and (5) hydrated electrode touching the eardrum. To create the bore, a technique was developed in which a needle is heated and pushed through the foam eartip. The electrode is then thread through the bore and advanced slowly by hand until contacting the eardrum. Analysis included comparing absorbance, admittance phase angle, and DPOAE levels between measurement conditions. Comparison of the absorbance and admittance phase angle measurements between the electrode placement methods revealed significantly higher absorbance and lower admittance phase angle from 0.125 to 1 kHz when the electrode is routed under the eartip. Absorbance and admittance phase angle were minimally affected when the electrode was inserted through a bore in the eartip. DPOAE levels across the different conditions showed changes approximating test-retest variability. Upon contacting the eardrum, the absorbance tended to decrease below 1 kHz and increase above 1 kHz. However, changes were within the range of test-retest variability. There was evidence of reduced levels below 1 kHz and increased levels above 1 kHz upon the electrode contacting the eardrum. However, differences between conditions approximated test-retest variability. Routing the eardrum electrode through the foam tip reduces the likelihood of incurring an acoustic leak between the canal walls and eartip, compared with routing the electrode under the eartip. Changes in absorbance and DPOAE levels resulting from electrode contact with the eardrum implicate potential stiffening of eardrum; however, the magnitude of changes suggests minimal effect of the electrode on sound transmission in the ear.

Recognition of unilateral auditory neuropathy in children

Objective: This study aimed to compare the audiological characteristics between children with unilateral auditory neuropathy (UAN) and single-sided deafness (SSD) to establish a valid basis for the differential diagnosis of children with UAN. Methods: A retrospective analysis was conducted on audiological and imaging evaluations of children with UAN and SSD who were treated at Beijing Children's Hospital of Capital Medical University between May 2015 and June 2023. There were 17 children with UAN, comprising 10 males and 7 females, with an average age of 4.7 years. Additionally, there were 43 children with SSD, consisting of 27 males and 16 females, with an average age of 6.5 years. Audiological assessments included Auditory brainstem response (ABR), Steady-state auditory evoked potential (ASSR), Behavioural audiometry, Cochlear microphonic potential (CM), Distortino-product otoacoustic emission (DPOAE), and acoustic immittance test. The results of the audiological assessment and imaging phenotypic between the two groups of children were compared and analyzed by applying SPSS 27.0 statistical software. Results: (1) The UAN group (77.8%) had a significantly higher rate of ABR wave IIIL than the SSD group (20.9%) (P<0.01). The PA thresholds at 500 Hz and 1 000 Hz of children with SSD were higher than those of children with UAN, while the ASSR thresholds at 500 Hz, 1000 Hz, 2 000 Hz, and 4 000 Hz of children with SSD were significantly higher than those of children with UAN (P<0.05). (2) The degree of hearing loss in both UAN and SSD children was predominantly complete hearing loss. The percentage of complete hearing loss was significantly higher (χ²=4.353, P=0.037) in the SSD group (93.0%, 40/43) than in the UAN group (63.6%, 7/11). However, the percentage of profound hearing loss was significantly higher in the UAN group (27.3%, 3/11) than in the SSD group (2.3%, 1/43) (Fisher's exact test, P=0.023). In terms of hearing curve configuration, the percentage of flat type was significantly higher in the SSD group (76.7%, 33/43) than in the UAN group (36.4%, 4/11). The proportion of the UAN group (27.3%, 3/11) was significantly higher than that in the SSD group (2.3%, 1/43) in ascending type (P<0.05). There were no statistically significant differences in the hearing curves of the declining type and other types between the two groups (P>0.05). (3) The proportion of imaging assessment without abnormality was significantly more common in the UAN group (81.8%) than in the SSD group (37.1%) (χ²=6.695, P=0.015). Conclusions: Compared to children with SSD, the occurrence of wave IIIL on the ABR test was significantly more common in children with UAN. The percentage of ascending hearing curves was significantly higher in children with UAN than in children with SSD. ASSR thresholds were significantly lower in children with UAN. The normal imaging phenotype was significantly more common in children with UAN than in children with SSD.

The influence of tympanic-membrane orientation on acoustic ear-canal quantities: A finite-element analysis.

Assuming plane waves, ear-canal acoustic quantities, collectively known as wideband acoustic immittance (WAI), are frequently used in research and in the clinic to assess the conductive status of the middle ear. Secondary applications include compensating for the ear-canal acoustics when delivering stimuli to the ear and measuring otoacoustic emissions. However, the ear canal is inherently non-uniform and terminated at an oblique angle by the conical-shaped tympanic membrane (TM), thus potentially confounding the ability of WAI quantities in characterizing the middle-ear status. This paper studies the isolated possible confounding effects of TM orientation and shape on characterizing the middle ear using WAI in human ears. That is, the non-uniform geometry of the ear canal is not considered except for that resulting from the TM orientation and shape. This is achieved using finite-element models of uniform ear canals terminated by both lumped-element and finite-element middle-ear models. In addition, the effects on stimulation and reverse-transmission quantities are investigated, including the physical significance of quantities seeking to approximate the sound pressure at the TM. The results show a relatively small effect of the TM orientation on WAI quantities, except for a distinct delay above 10 kHz, further affecting some stimulation and reverse-transmission quantities.

Wideband acoustic immittance characteristics and machine learning-based diagnostic model for children with large vestibular aqueduct syndrome

Objective:This study was to investigate the wideband acoustic immittance（WAI） characteristics of children with large vestibular aqueduct syndrome（LVAS） and to construct a diagnostic model for LVAS based on WAI and machine learning（ML） techniques. Methods:We performed a retrospective analysis of the data from 38 children（76 ears） with LVAS and 44 children（88 ears） with normal hearing. The data included conventional audiological examination, temporal bone CT scan and WAI test. We performed statistical analysis and developed multivariate diagnostic models based on different ML techniques. Results:The two groups were balanced in terms of ear, gender, and age（P>0.05）. The wideband absorbance（WBA） of the LVAS group was significantly lower than that of the control group at 1 000-2 519 Hz, while the WBA of the LVAS group was significantly higher than that of the control group at 4 000-6 349 Hz（P<0.05）. WBA at 5 039 Hz under ambient pressure had a certain diagnostic value（AUC=0.767）. The multivariate diagnostic model had a high diagnostic value（AUC>0.8）, among which the KNN model performed the best（AUC=0.961）. Conclusion:The WAI characteristics of children with LVAS are significantly different from those of normal children. The diagnostic model based on WAI and ML techniques has high accuracy and reliability, and provides new ideas and methods for intelligent diagnosis of LVAS.

Survey of Wideband Acoustic Immittance Use by Clinical Audiologists.

Wideband acoustic immittance (WAI) is a promising measure of middle-ear mechanics. In contrast to standard tympanometry, which is generally measured at a single stiffness-dominated low frequency, WAI detects mechanical effects on both the mass and stiffness properties of the middle ear across a wide range of frequencies, resulting in a more comprehensive assessment of middle-ear mechanics in healthy and pathological ears. Despite a plethora of research demonstrating the clinical utility of this measure, clinical adoption of WAI is still limited. This work explores audiologists' use and perceptions of WAI, with the goal of identifying the barriers to its clinical adoption. A survey on the perception and use of WAI by clinical audiologists in the United States was developed and administered using the Research Electronic Data Capture application. The survey was distributed broadly across the United States. Participation was voluntary and anonymous, and no compensation was provided. Findings from 132 survey respondents across 32 states were included in the analyses. Overall, findings suggest the largest barriers to clinical adoption of WAI are lack of access to equipment that measures WAI and lack of training and/or confidence in measuring or interpreting WAI. Several barriers to clinical adoption of WAI were identified. However, findings also provide optimism in that audiologists utilizing WAI find it more useful than standard tympanometry, and most audiologists who do not currently use WAI are open to implementing the measure in their clinical practice. We proposed steps to address the highest priority issues and increase the clinical viability of WAI.

Improvement of vertigo symptoms and acoustic power absorbance in cases with endolymphatic hydrops.

The pathophysiology and symptoms underlying Meniere's disease (MD) manifest as endolymphatic hydrops (EH), potentially impacting acoustic power absorbance in vestibular EH. The longitudinal effects of middle ear pressure therapy (MEPT) and conservative therapies for EH by magnetic resonance imaging (MRI) and on acoustic power absorbance on wideband acoustic immittance (WAI) were evaluated, and their changes were compared with clinical symptoms. Eleven patients with definite MD or delayed endolymphatic hydrops (DEH), resistant to conservative therapies and who continued MEPT for 1 year, were included. Vertigo scores, hearing levels, acoustic power absorbance on WAI, and degrees of EH on 3-T MRI were evaluated and compared before and after the treatments. One year after the start of MEPT, all cases showed symptomatic improvement in vertigo score; however, the degrees of EH showed no improvements except in one case. In the affected ears with EH, their absorbances on WAI improved, particularly at 1580-1905 or 2400-2953 Hz (p < .05). Alleviation of vestibular symptoms with the therapy of MD was not necessarily associated with improved EH. Vestibular symptoms could be related to the change in the impedance of inner ear pressure, which was proven by the normalization of acoustic power absorbance. Assessments of acoustic power absorbance may provide useful information for physiological conditions and causative factors of vertigo in ears with EH. 4.

Splicing mutations of GSDME cause late-onset non-syndromic hearing loss

Objective:To dentify the genetic and audiological characteristics of families affected by late-onset hearing loss due to GSDMEgene mutations, aiming to explore clinical characteristics and pathogenic mechanisms for providing genetic counseling and intervention guidance. Methods:Six families with late-onset hearing loss from the Chinese Deafness Genome Project were included. Audiological tests, including pure-tone audiometry, acoustic immittance, speech recognition scores, auditory brainstem response, and distortion product otoacoustic emission, were applied to evaluate the hearing levels of patients. Combining with medical history and physical examination to analyze the phenotypic differences between the probands and their family members. Next-generation sequencing was used to identify pathogenic genes in probands, and validations were performed on their relatives by Sanger sequencing. Pathogenicity analysis was performed according to the American College of Medical Genetics and Genomics Guidelines. Meanwhile, the pathogenic mechanisms of GSDME-related hearing loss were explored combining with domestic and international research progress. Results:Among the six families with late-onset hearing loss, a total of 30 individuals performed hearing loss. The onset of hearing loss in these families ranged from 10 to 50 years（mean age: 27.88±9.74 years）. In the study, four splicing mutations of the GSDME were identified, including two novel variants: c. 991－7C>G and c. 1183+1G>T. Significantly, the c. 991－7C>G was a de novo variant. The others were previously reported variants: c. 991-1G>C and c. 991-15_991-13del, the latter was identified in three families. Genotype-phenotype correlation analysis revealed that probands with the c. 991－7C>G and c. 1183+1G>T performed a predominantly high-frequency hearing loss. The three families carrying the same mutation exhibited varying degrees of hearing loss, with an annual rate of hearing deterioration exceeding 0.94 dB HL/year. Furthermore, follow-up of interventions showed that four of six probands received intervention（66.67%）, but the results of intervention varied. Conclusion:The study analyzed six families with late-onset non-syndromic hearing loss linked to GSDME mutations, identifying four splicing variants. Notably, c. 991－7C>G is the first reported de novo variant of GSDME globally. Audiological analysis revealed that the age of onset generally exceeded 10 years,with variable effectiveness of interventions.

NOWY PATOGENICZNY WARIANT GENU &lt;i&gt;LOXHD1&lt;/i&gt; W GRECJI: STUDIUM PRZYPADKU IZOLOWANEGO NIEDOSŁUCHU ZWIĄZANEGO Z MUTACJĄ DNFB77

BackgroundGenetic deficits cause 80% of congenital prelingual hearing loss. Some 80% of these cases are nonsyndromic and most follow an autosomal recessive pattern of inheritance. More than 80 genes have so far been identified as pathogenic. In this study, we focus on a recently mapped gene, &lt;i&gt;LOXHD1&lt;/i&gt;, whose mutated form causes DFNB77 hearing loss, and find a new variant.Case reportThis is a case study of a 7-year-old male who was admitted to our audiology department with progressive hearing impairment. Pure tone audiometry showed bilateral symmetric hearing impairment, especially at mid to high frequencies. Acoustic immittance tests were normal, but transient evoked otoacoustic emissions and auditory brainstem responses were abnormal for both ears. After physical, clinical, and imaging evaluations, the patient and his parents were genetically tested. Genetic screening showed &lt;i&gt;LOXHD1&lt;/i&gt; hearing loss with a novel combination of alleles, the first such case diagnosed in Greece. The patient now has hearing aids and is being regularly monitored.ConclusionsAutosomal recessive nonsyndromic hearing loss (ARNSHL), including DFNB77, is the most common sensory deficit in children. Our work describes the first &lt;i&gt;LOXHD1&lt;/i&gt; hearing loss case diagnosed in Greece and adds a novel pathogenic variant to the list of pathogenic &lt;i&gt;LOXHD1&lt;/i&gt; gene variants.

Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis

ObjectiveTo investigate the peripheral and central auditory pathways in mucopolysaccharidosis (MPS) individuals. MethodThe research sample comprised 15 individuals (one female and 14 males), aged 8 to 46 years. The following procedures were used: medical history survey, otoscopy, speech and pure-tone threshold audiometry, acoustic immittance measures, and central auditory pathway assessment with brainstem auditory evoked potentials (BAEP) and long-latency auditory evoked potentials (LLAEP). ResultsThe pure-tone audiometry identified hearing loss in 13 individuals, and more than 90 % of the hearing loss was sensorineural. The degree of hearing loss was between mild to moderately severe with descendent configuration. Type A tympanogram predominated, and acoustic reflexes were present according to the types and degrees of hearing loss. Among the individuals with abnormal BAEP, longer wave III and V absolute latencies were the main findings. In addition, the unilateral absence of wave I was observed in two cases. In the LLAEP, longer latencies were observed in 14 individuals, and the most impaired components were the P1 and P3 in children and adolescents and the P2, N2 and P3 in adult individuals. ConclusionThe peripheral auditory pathway assessment revealed a predominantly sensorineural hearing loss, affecting mainly high frequencies, and in the central pathway was observed abnormal brainstem and cortical auditory processing in individuals with MPS.

The Use of Homotonic Monosyllabic Words in the Persian Language for the Word-in-Noise Perception Test

Background and Aim: Speech perception is an important auditory need. A test that can evaluate the function of the auditory brain in discovering consonants and understanding meanings in Persian language is necessary. Therefore, this study aims to determine the norm values of the Word-in-Noise Perception (WINP) test for Iranian people aged 18–25 years. Methods: In this study, participants were 101 people with normal hearing, stress level, night sleep, and mini-mental states. The measures were the 28-item general health questionnaire, mini-mental state examination, Petersburg sleep quality index, acoustic immittance assessment, pure tone audiometry, speech reception threshold evaluation, and the WINP test with Homotonic-Monosyllabic Words (HMWs). Data analysis was performed using the Mann-Whitney U test. Results: The mean scores of the WINP test at three Signal-to-Noise Ratio (SNRs) of 0, +5, +10 dB were 53.14%, 68.15%, 88.70% for the right ear; 52.95%, 67.83%, 88.13% for the left ear; and 53%, 68%, 88% for both ears, respectively. The mean scores of the right ear were higher than those of the left ear, and the women’s scores were higher compared to men; however, the differences were not statically significant. Conclusion: By using the WINP test with the HMWs, it is possible to evaluate the function of the auditory brain in understanding the consonants in Persian language. The WINP test scores are similar between both ears and both sexes. Keywords: Speech perception; noise; lexical; semantic

Investigation of Age and Gender Effects on the Middle Ear With Wideband Tympanometry in Adults.

Several studies have reported the effects of age and gender on the middle ear of adults using wideband acoustic immittance (WAI) that measures middle ear function over a range of frequencies rather than the traditional measures with a single probe tone. Although these results are often based on WAI measurements under ambient pressure, using WAI under varying ear-canal pressures (wideband tympanometry [WBT]) may be able to provide more information about age and gender effects on the middle ear. The aim of this study is to examine the effects of age and gender on the middle ear with WBT in three different age groups consisting of young, middle-aged, and older adults. A total of 95 adults with normal middle ear function were assessed, including 32 young adults (16 men, 16 women, aged 20 to 39 years), 31 middle-aged adults (15 men, 16 women, aged 41 to 60 years), and 32 older adults (16 men, 16 women, aged 65 to 82 years). WBT measurements were performed from 226 to 8000 Hz using Interacoustics Titan. Energy absorbance data at tympanometric peak pressure (EA TPP ) and ambient pressure (EA AP ) at 1/3 octave frequencies, and resonance frequency (RF) data were analyzed according to age and gender variables. Analysis results showed that the mean EA TPP was significantly higher from 500 to 794 Hz and at 5040 and 6350 Hz, and significantly lower from 1587 to 3175 Hz in older adults compared with young adults. The mean EA AP was significantly lower from 1587 to 3175 Hz, and significantly higher at 5040 and 6350 Hz in older adults compared with young adults. There was no significant difference in the mean EA TPP and mean EA AP at any frequency between young and middle-aged adults, and middle-aged and older adults. RF was significantly lower in older adults compared with young adults. In all age groups, men had higher mean EA TPP and mean EA AP at lower frequencies and lower mean EA TPP and mean EA AP at higher frequencies than women. Men had slightly lower RF than women in young and older adults, while men had significantly lower RF than women in middle-aged adults. This study demonstrated that there are possible age and gender effects on the middle ear that may affect the mechanical transmission of sound. It may be useful to consider this finding in clinical evaluation in adults of different ages and genders, and to establish age- and gender-specific WBT norms in the adult population.