Previous Issue
Volume 11, September

Audiol. Res., Volume 11, Issue 4 (December 2021) – 15 articles

  • Issues are regarded as officially published after their release is announced to the table of contents alert mailing list.
  • You may sign up for e-mail alerts to receive table of contents of newly released issues.
  • PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Readerexternal link to open them.
Order results
Result details
Select all
Export citation of selected articles as:
Review
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene
Audiol. Res. 2021, 11(4), 639-652; https://doi.org/10.3390/audiolres11040059 - 26 Nov 2021
Viewed by 293
Abstract
Auditory Neuropathy (AN) is a hearing disorder characterized by disruption of temporal coding of acoustic signals in auditory nerve fibers resulting in the impairment of auditory perceptions that rely on temporal cues. Mutations in several nuclear and mitochondrial genes have been associated to [...] Read more.
Auditory Neuropathy (AN) is a hearing disorder characterized by disruption of temporal coding of acoustic signals in auditory nerve fibers resulting in the impairment of auditory perceptions that rely on temporal cues. Mutations in several nuclear and mitochondrial genes have been associated to the most well-known forms of AN. Underlying mechanisms include both pre-synaptic and post-synaptic disorders affecting inner hair cell (IHC) depolarization, neurotransmitter release from ribbon synapses, spike initiation in auditory nerve terminals, loss of nerve fibers and impaired conduction, all occurring in the presence of normal physiological measures of outer hair cell (OHC) activities (otoacoustic emissions [OAEs] and cochlear microphonic [CM]). Disordered synchrony of auditory nerve activity has been suggested as the basis of both the profound alterations of auditory brainstem responses (ABRs) and impairment of speech perception. We will review how electrocochleography (ECochG) recordings provide detailed information to help objectively define the sites of auditory neural dysfunction and their effect on inner hair cell receptor summating potential (SP) and compound action potential (CAP), the latter reflecting disorders of ribbon synapses and auditory nerve fibers. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss)
Show Figures

Figure 1

Editorial
Victor A. McKusick, the “Father of Medical Genetics”
Audiol. Res. 2021, 11(4), 636-638; https://doi.org/10.3390/audiolres11040058 - 25 Nov 2021
Viewed by 207
Abstract
The Special Issue “Genetics of hearing loss” is dedicated to Victor A [...] Full article
(This article belongs to the Special Issue Genetics of Hearing Loss)
Show Figures

Figure 1

Commentary
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
Audiol. Res. 2021, 11(4), 629-635; https://doi.org/10.3390/audiolres11040057 - 17 Nov 2021
Viewed by 317
Abstract
Hearing loss (HL) is one of the most common sensory impairments worldwide and represents a critical medical and public health issue. Since the mid-1900s, great efforts have been aimed at understanding the etiology of both syndromic and non-syndromic HL and identifying correlations with [...] Read more.
Hearing loss (HL) is one of the most common sensory impairments worldwide and represents a critical medical and public health issue. Since the mid-1900s, great efforts have been aimed at understanding the etiology of both syndromic and non-syndromic HL and identifying correlations with specific audiological phenotypes. The extraordinary discoveries in the field of molecular genetics during the last three decades have contributed substantially to the current knowledge. Next-generation sequencing technologies have dramatically increased the diagnostic rate for genetic HL, enabling the detection of novel variants in known deafness-related genes and the discovery of new genes implicated in hearing disease. Overall, genetic factors account for at least 40% of the cases with HL, but a portion of affected patients still lack a definite molecular diagnosis. Important steps forward have been made, but many aspects still have to be clarified. In particular, the role of epigenetics in the development, function and pathology of hearing is a research field that still needs to be explored. This research is extremely challenging due to the time- and tissue-dependent variability of the epigenetic changes. Multisystem diseases are expected to be investigated at first: specific epi-signatures have been identified for several syndromic disorders and represent potential markers for molecular diagnostics. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss)
Article
Skull Vibration Induced Nystagmus Test: Correlations with Semicircular Canal and Otolith Asymmetries
Audiol. Res. 2021, 11(4), 618-628; https://doi.org/10.3390/audiolres11040056 - 15 Nov 2021
Viewed by 384
Abstract
Background: To establish in patients with peripheral vestibular disorders relations between skull vibration-induced nystagmus (SVIN) different components (horizontal, vertical, torsional) and the results of different structurally related vestibular tests. Methods: SVIN test, canal vestibular test (CVT: caloric test + video head impulse test: [...] Read more.
Background: To establish in patients with peripheral vestibular disorders relations between skull vibration-induced nystagmus (SVIN) different components (horizontal, vertical, torsional) and the results of different structurally related vestibular tests. Methods: SVIN test, canal vestibular test (CVT: caloric test + video head impulse test: VHIT), otolithic vestibular test (OVT: ocular vestibular evoked myogenic potential oVEMP + cervical vestibular evoked myogenic potential cVEMP) performed on the same day in 52 patients with peripheral vestibular diseases (age < 65 years), and 11 control patients were analyzed. Mixed effects logistic regression analysis was performed to assert whether the presence of nystagmus in SVIN (3D analysis) have an association with the presence of peripheral vestibular dysfunction measured by vestibular explorations (CVT or OVT). Results: We obtained different groups: Group-Co (control group), Group-VNT (dizzy patients with no vestibular tests alterations), Group-O (OVT alterations only), Group-C (CVT alterations only), Group-M (mixed alterations). SVIN-SPV horizontal component was significantly higher in Group-M than in the other groups (p = 0.005) and correlated with alterations of lateral-VHIT (p < 0.001), caloric test (p = 0.002) and oVEMP (p = 0.006). SVIN-SPV vertical component was correlated with the anterior-VHIT and oVEMP alterations (p = 0.007; p = 0.017, respectively). SVIN-SPV torsional component was correlated with the anterior-VHIT positivity (p = 0.017). SVIN was the only positive test for 10% of patients (83% of Group-VNT). Conclusion: SVIN-SPV analysis in dizzy patients shows significant correlation to both CVT and OVT. SVIN horizontal component is mainly relevant to both vestibular tests exploring lateral canal and utricle responses. SVIN-SPV is significantly higher in patients with combined canal and otolith lesions. In some patients with dizziness, SVIN may be the only positive test. Full article
(This article belongs to the Special Issue Skull Vibration-Induced Nystagmus Test)
Show Figures

Figure 1

Case Report
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review
Audiol. Res. 2021, 11(4), 609-617; https://doi.org/10.3390/audiolres11040055 - 13 Nov 2021
Viewed by 468
Abstract
Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterised by ovarian failure in females and sensorineural hearing loss (SNHL) in both genders. In the present paper we describe a child affected by PRLTS3, due to CLPP homozygous mutations, presenting auditory neuropathy spectrum [...] Read more.
Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterised by ovarian failure in females and sensorineural hearing loss (SNHL) in both genders. In the present paper we describe a child affected by PRLTS3, due to CLPP homozygous mutations, presenting auditory neuropathy spectrum disorder (ANSD) with bilateral progressive SNHL. This is the first case reported in the literature of an ANSD in PRLTS3. CLPP is a nuclear encoded mitochondrial protease directed at the mitochondrial matrix. It is encoded on chromosome 19. This protease participates in mitochondrial protein quality control by degrading misfolded or damaged proteins, thus maintaining the normal metabolic function of the cell. In PRLTS3, the peptidase activity of CLPP is suppressed. Neurological impairments involved in PRLTS3 suggest that the pathogenic mutations in CLPP might trigger a mitochondrial dysfunction. A comprehensive description of the clinical and audiological presentation, as well as the issues related to cochlear implant (CI) procedure and the results, are addressed and discussed. A brief review of the literature on this topic is also provided. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss)
Show Figures

Figure 1

Article
Skull Vibration-Induced Nystagmus Test (SVINT) in Vestibular Migraine and Menière’s Disease
Audiol. Res. 2021, 11(4), 603-608; https://doi.org/10.3390/audiolres11040054 - 08 Nov 2021
Viewed by 390
Abstract
Background: Vestibular migraine (VM) and Menière’s disease (MD) are the two most frequent episodic vertigo apart from Benign Paroxysmal Positional Vertigo (BPPV) differential diagnosis for them may be troublesome in the early stages. SVINT is a newly proposed vestibular test, which demonstrated to [...] Read more.
Background: Vestibular migraine (VM) and Menière’s disease (MD) are the two most frequent episodic vertigo apart from Benign Paroxysmal Positional Vertigo (BPPV) differential diagnosis for them may be troublesome in the early stages. SVINT is a newly proposed vestibular test, which demonstrated to be fast and reliable in diagnoses above all of peripheral vestibular deficits. Methods: We retrieved clinical data from two groups of subjects (200 VM and 605 MD), enrolled between 2010 and 2020. Among others, these subjects were included when performing a SVINT. The purpose of the study is to assess if SVINT can be useful to differentiate the two episodic disorders. Results: 59.2% of MD subjects presented as positive with SVINT while only 6% did so with VM; among other tests, only video HIT demonstrated a different frequency in the two groups (13.1% and 0.5%, respectively), but the low sensitivity in these subjects makes the test unaffordable for diagnostic purposes. Conclusions: Since SVINT demonstrated to be positive in a peripheral vestibular deficit in previous works, we think that our data are consistent with the hypothesis that, in the pathophysiology of VM attacks, the central vestibular pathways are mainly involved. Full article
(This article belongs to the Special Issue Skull Vibration-Induced Nystagmus Test)
Article
Audiometric Characteristics and Tinnitus Features in a Cohort of 170 Spanish Patients
Audiol. Res. 2021, 11(4), 594-602; https://doi.org/10.3390/audiolres11040053 - 03 Nov 2021
Viewed by 412
Abstract
Background: Tinnitus is a rather prevalent, quite heterogeneous, and difficult to treat auditory disorder. The aim of this article is to provide the design and results of a cross-sectional study related to audiological and tinnitus features in a group of 170 Spanish patients. [...] Read more.
Background: Tinnitus is a rather prevalent, quite heterogeneous, and difficult to treat auditory disorder. The aim of this article is to provide the design and results of a cross-sectional study related to audiological and tinnitus features in a group of 170 Spanish patients. Methods: Audiometric characteristics were assessed on the basis of the pure-tone audiometry of both ears in 170 tinnitus patients and 85 control subjects. The audiometric status of each tinnitus participant was assessed on the basis of the average auditory threshold (AAT) in the whole frequency range (from 125 Hz to 8 kHz), and low (from 125 Hz to 2 kHz) and high (from 3 kHz to 8 kHz)-frequency intervals. Tinnitus features were evaluated through personal interview with patients and included tinnitus duration, laterality, pitch, sound, and distress (Tinnitus Handicap Inventory, THI). Correlational analysis was carried out between audiological (AAT) and tinnitus (THI) variables. Results: A very weak Spearman rank correlation factor is found between both variables. Conclusions: The subjective outcome of tinnitus distress (THI) was not correlated with the objective measure of hearing loss (AAT) in our cohort. Full article
Show Figures

Figure 1

Case Report
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
Audiol. Res. 2021, 11(4), 582-593; https://doi.org/10.3390/audiolres11040052 - 18 Oct 2021
Viewed by 442
Abstract
Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26. ACTG1 gene encodes gamma actin, the predominant actin protein in the [...] Read more.
Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26. ACTG1 gene encodes gamma actin, the predominant actin protein in the cytoskeleton of auditory hair cells; its normal expression and function are essential for the stereocilia maintenance. Different gain-of-function pathogenic variants of ACTG1 have been associated with two major phenotypes: DFNA20/26 and Baraitser–Winter syndrome, a multiple congenital anomaly disorder. Here, we report a novel ACTG1 variant [c.625G>A (p. Val209Met)] in an adult patient with moderate-severe NSHL characterized by a downsloping audiogram. The patient, who had a clinical history of slowly progressive NSHL and tinnitus, was referred to our laboratory for the analysis of a large panel of NSHL-associated genes by next generation sequencing. An extensive review of previously reported ACTG1 variants and their associated phenotypes was also performed. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss)
Show Figures

Figure 1

Article
Item Response Theory Investigation of Misophonia Auditory Triggers
Audiol. Res. 2021, 11(4), 567-581; https://doi.org/10.3390/audiolres11040051 - 14 Oct 2021
Viewed by 791
Abstract
Misophonia is characterised by a low tolerance for day-to-day sounds, causing intense negative affect. This study conducts an in-depth investigation of 35 misophonia triggers. A sample of 613 individuals who identify as experiencing misophonia and 202 individuals from the general population completed self-report [...] Read more.
Misophonia is characterised by a low tolerance for day-to-day sounds, causing intense negative affect. This study conducts an in-depth investigation of 35 misophonia triggers. A sample of 613 individuals who identify as experiencing misophonia and 202 individuals from the general population completed self-report measures. Using contemporary psychometric methods, we studied the triggers in terms of internal consistency, stability in time, precision, severity, discrimination ability, and information. Three dimensions of sensitivity were identified, namely, to eating sounds, to nose/throat sounds, and to general environmental sounds. The most informative and discriminative triggers belonged to the eating sounds. Participants identifying with having misophonia had also significantly increased odds to endorse eating sounds as auditory triggers than others. This study highlights the central role of eating sounds in this phenomenon and finds that different triggers are endorsed by those with more severe sound sensitivities than those with low sensitivity. Full article
Show Figures

Figure 1

Review
The Neural Basis of Skull Vibration Induced Nystagmus (SVIN)
Audiol. Res. 2021, 11(4), 557-566; https://doi.org/10.3390/audiolres11040050 - 14 Oct 2021
Viewed by 633
Abstract
I list a summary of the major clinical observations of SVIN in patients with total unilateral vestibular loss (TUVL) and show how basic results from neurophysiology can explain these clinical observations. The account integrates results from single neuron recordings of identified semicircular canal [...] Read more.
I list a summary of the major clinical observations of SVIN in patients with total unilateral vestibular loss (TUVL) and show how basic results from neurophysiology can explain these clinical observations. The account integrates results from single neuron recordings of identified semicircular canal and otolith afferent neurons in guinea pigs in response to low frequency skull vibration with evidence of the eye movement response in cats to selective semicircular canal stimulation (both individual and combined) and a simple model of nystagmus generation to show how these results explain most of the major characteristics of SVIN. Full article
(This article belongs to the Special Issue Skull Vibration-Induced Nystagmus Test)
Show Figures

Figure 1

Review
Hyperacusis in Autism Spectrum Disorders
Audiol. Res. 2021, 11(4), 547-556; https://doi.org/10.3390/audiolres11040049 - 14 Oct 2021
Viewed by 1028
Abstract
Hyperacusis is highly prevalent in the autism spectrum disorder (ASD) population. This auditory hypersensitivity can trigger pragmatically atypical reactions that may impact social and academic domains. Objective: The aim of this report is to describe the relationship between decreased sound tolerance disorders and [...] Read more.
Hyperacusis is highly prevalent in the autism spectrum disorder (ASD) population. This auditory hypersensitivity can trigger pragmatically atypical reactions that may impact social and academic domains. Objective: The aim of this report is to describe the relationship between decreased sound tolerance disorders and the ASD population. Topics covered: The main topics discussed include (1) assessment and prevalence of hyperacusis in ASD; (2) etiology of hyperacusis in ASD; (3) treatment of hyperacusis in ASD. Conclusions: Knowledge of the assessment and treatment of decreased sound tolerance disorders within the ASD population is growing and changing. Full article
Article
Audiological Performance of ADHEAR Systems in Simulated Conductive Hearing Loss: A Case Series with a Review of the Existing Literature
Audiol. Res. 2021, 11(4), 537-546; https://doi.org/10.3390/audiolres11040048 - 13 Oct 2021
Viewed by 587
Abstract
A new non-invasive adhesive bone conduction hearing device (ABCD) has been proposed as an alternative solution for reversible bilateral conductive hearing loss in recurrent or long-lasting forms of otitis media with effusion (OME) in children that cannot undergo surgical treatment. Our aim was [...] Read more.
A new non-invasive adhesive bone conduction hearing device (ABCD) has been proposed as an alternative solution for reversible bilateral conductive hearing loss in recurrent or long-lasting forms of otitis media with effusion (OME) in children that cannot undergo surgical treatment. Our aim was to assess the effectiveness of ABCD in children with OME. Twelve normal-hearing Italian-speaking volunteers, in whom a conductive hearing loss was simulated, participated in the study. The free-field average hearing threshold was determined and, to evaluate binaural hearing skills, loudness summation and the squelch effect were assessed. Five conditions were tested: (1) unaided without earplugs, (2) unaided with bilateral earplugs, (3) aided right ear with bilateral earplugs, (4) aided left ear with bilateral earplugs, and (5) bilateral aid with bilateral earplugs. Post-hoc analysis showed a significant statistical difference between plugged, unplugged, and each aided condition. The main results were a better loudness summation and a substantial improvement of the squelch effect in the bilaterally aided. Our results suggest that ABCD is a valid treatment for patients with conductive hearing loss that cannot undergo bone conduction implant surgery. It is also important to consider bilateral aids in order to deal with situations in which binaural hearing is fundamental. Full article
(This article belongs to the Special Issue Bone and Cartilage Conduction)
Show Figures

Figure 1

Review
Genetics of Inner Ear Malformations: A Review
Audiol. Res. 2021, 11(4), 524-536; https://doi.org/10.3390/audiolres11040047 - 12 Oct 2021
Viewed by 477
Abstract
Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. [...] Read more.
Inner ear malformations are present in 20% of patients with sensorineural hearing loss. Although the first descriptions date to the 18th century, in recent years the knowledge about these conditions has experienced terrific improvement. Currently, most of these conditions have a rehabilitative option. Much less is known about the etiology of these anomalies. In particular, the evolution of genetics has provided new data about the possible relationship between inner ear malformations and genetic anomalies. In addition, in syndromic condition, the well-known presence of sensorineural hearing loss can now be attributed to the presence of an inner ear anomaly. In some cases, the presence of these abnormalities should be considered as a characteristic feature of the syndrome. The present paper aims to summarize the available knowledge about the possible relationships between inner ear malformations and genetic mutations. Full article
(This article belongs to the Special Issue Genetics of Hearing Loss)
Show Figures

Figure 1

Review
Sound Localization and Lateralization by Bilateral Bone Conduction Devices, Middle Ear Implants, and Cartilage Conduction Hearing Aids
Audiol. Res. 2021, 11(4), 508-523; https://doi.org/10.3390/audiolres11040046 - 30 Sep 2021
Viewed by 439
Abstract
Sound localization in daily life is one of the important functions of binaural hearing. Bilateral bone conduction devices (BCDs), middle ear implants, and cartilage conduction hearing aids have been often applied for patients with conductive hearing loss (CHL) or mixed hearing loss, for [...] Read more.
Sound localization in daily life is one of the important functions of binaural hearing. Bilateral bone conduction devices (BCDs), middle ear implants, and cartilage conduction hearing aids have been often applied for patients with conductive hearing loss (CHL) or mixed hearing loss, for example, resulting from bilateral microtia and aural atresia. In this review, factors affecting the accuracy of sound localization with bilateral BCDs, middle ear implants, and cartilage conduction hearing aids were classified into four categories: (1) types of device, (2) experimental conditions, (3) participants, and (4) pathways from the stimulus sound to both cochleae. Recent studies within the past 10 years on sound localization and lateralization by BCDs, middle ear implants, and cartilage conduction hearing aids were discussed. Most studies showed benefits for sound localization or lateralization with bilateral devices. However, the judgment accuracy was generally lower than that for normal hearing, and the localization errors tended to be larger than for normal hearing. Moreover, it should be noted that the degree of accuracy in sound localization by bilateral BCDs varied considerably among patients. Further research on sound localization is necessary to analyze the complicated mechanism of bone conduction, including suprathreshold air conduction with bilateral devices. Full article
(This article belongs to the Special Issue Bone and Cartilage Conduction)
Show Figures

Figure 1

Review
The Enduring Controversy of Cervicogenic Vertigo, and Its Place among Positional Vertigo Syndromes
Audiol. Res. 2021, 11(4), 491-507; https://doi.org/10.3390/audiolres11040045 - 26 Sep 2021
Viewed by 1005
Abstract
The idea of cervicogenic vertigo (CV) was proposed nearly a century ago, yet despite considerable scrutiny and research, little progress has been made in clarifying the underlying mechanism of the disease, developing a confirmatory diagnostic test, or devising an appropriately targeted treatment. Given [...] Read more.
The idea of cervicogenic vertigo (CV) was proposed nearly a century ago, yet despite considerable scrutiny and research, little progress has been made in clarifying the underlying mechanism of the disease, developing a confirmatory diagnostic test, or devising an appropriately targeted treatment. Given the history of this idea, we offer a review geared towards understanding why so many attempts at clarifying it have failed, with specific comments regarding how CV fits into the broader landscape of positional vertigo syndromes, what a successful diagnostic test might require, and some practical advice on how to approach this in the absence of a diagnostic test. Full article
(This article belongs to the Special Issue Advances in Positional Vertigo)
Previous Issue
Back to TopTop