857 results match your criteria Auditory Neuropathy

The c.824C>A and c.616dupA mutations in the SLC17a8 gene are associated with auditory neuropathy and lead to defective expression of VGluT3.

Neuroreport 2021 Jun 17. Epub 2021 Jun 17.

Department of Otolaryngology Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Auditory neuropathy is sensorineural deafness where sound signals cannot be transmitted synchronously from the cochlea to the auditory center. Abnormal expression of vesicle glutamate transporter 3 (VGluT3) encoded by the SLC17a8 gene is associated with the pathophysiology of auditory neuropathy. Although several suspected pathogenic mutations of the SLC17a8 gene have been identified in humans, few studies have confirmed their pathogenicity. Read More

View Article and Full-Text PDF

Central auditory maturation and behavioral outcomes after cochlear implantation in prelingual auditory neuropathy spectrum disorder related to OTOF variants (DFNB9): Lessons from pilot study.

PLoS One 2021 7;16(6):e0252717. Epub 2021 Jun 7.

Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, South Korea.

The cortical auditory evoked potential (CAEP)-based P1 component acts as a biomarker for cochlear implantation (CI) outcomes in children with auditory neuropathy spectrum disorder (ANSD). To date, early intervention primarily before the age of two years and six months of CI usage is necessary and sufficient to achieve age-appropriate cortical maturation and good prognosis. However, varying degrees of neural dyssynchrony, resulting from the etiological heterogeneity of ANSD, may preclude uniform application of this hypothesis to ensure auditory cortical maturation. Read More

View Article and Full-Text PDF

Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation.

Stem Cell Res 2021 May 29;53:102376. Epub 2021 Apr 29.

College of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China. Electronic address:

AIFM1 is the most common gene related to late-onset Auditory Neuropathy (AN), which is characterized by a main manifestation of impaired speech comprehension. By using a nonintegrating plasmid delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood cells of a male patient from the family carrying the X-linked AIFM1 p.R422Q mutation. Read More

View Article and Full-Text PDF

A nonsense variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.

Proc Natl Acad Sci U S A 2021 Jun;118(22)

Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.

Genes that are primarily expressed in cochlear glia-like supporting cells (GLSs) have not been clearly associated with progressive deafness. Herein, we present a deafness locus mapped to chromosome 3p25.1 and an auditory neuropathy spectrum disorder (ANSD) gene, , mainly expressed in GLSs. Read More

View Article and Full-Text PDF

Cochlear implantation in auditory neuropathy spectrum disorders: role of transtympanic electrically evoked auditory brainstem responses and serial neural response telemetry.

J Laryngol Otol 2021 May 20:1-8. Epub 2021 May 20.

Department of Otorhinolaryngology, Head and Neck Surgery, Apollo Hospitals, Bangalore, India.

Objective: To evaluate the utility of pre-operative transtympanic electrically evoked auditory brainstem responses and post-operative neural response telemetry in auditory neuropathy spectrum disorder patients.

Methods: Four auditory neuropathy spectrum disorder patients who had undergone cochlear implantation and used it for more than one year were studied. All four patients underwent pre-operative transtympanic electrically evoked auditory brainstem response testing, intra-operative and post-operative (at 3, 6 and 12 months after switch-on) neural response telemetry, and out-patient cochlear implant electrically evoked auditory brainstem response testing (at 12 months). Read More

View Article and Full-Text PDF

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency).

Int J Audiol 2021 May 13:1-7. Epub 2021 May 13.

Department of Neurology, Division of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Objective: The purpose of this paper is to describe a child with auditory neuropathy spectrum disorder (ANSD) associated with Brown-Vialetto-Van Laere (BVVL) syndrome, which is a rare, inherited, neurodegenerative disorder that is caused by defects in riboflavin transporter genes.

Design: We report the audiological and clinical profile of a child who presented with a complaint of sudden loss of speech understanding associated with an atypical form of ANSD. He was later diagnosed with BVVL. Read More

View Article and Full-Text PDF

CYLD deficiency causes auditory neuropathy due to reduced neurite outgrowth.

J Clin Lab Anal 2021 Jun 2;35(6):e23783. Epub 2021 May 2.

State Key Laboratory of Medicinal Chemical Biology, College of Life Sciences, Nankai University, Tianjin, China.

Background: Auditory neuropathy is a cause of hearing loss that has been studied in a number of animal models. Signal transmission from hair cells to spiral ganglion neurons plays an important role in normal hearing. CYLD is a microtubule-binding protein, and deubiquitinase involved in the regulation of various cellular processes. Read More

View Article and Full-Text PDF

Auditory testing outcomes with hearing aids in patients with auditory neuropathy spectrum disorder.

Am J Otolaryngol 2021 Apr 17;42(5):103057. Epub 2021 Apr 17.

Cleveland Clinic Foundation, Head and Neck Institute, USA. Electronic address:

Objective: The objective of this study is to evaluate the audiologic outcomes with hearing aids in pediatric patients with auditory neuropathy spectrum disorder (ANSD) using the Infant Toddler-Meaningful Auditory Integration Scale (IT-MAIS), and the Ling 6 Sound Test (Ling 6).

Study Design: Case series.

Setting: Single tertiary care academic medical center. Read More

View Article and Full-Text PDF

A comprehensive review of the effects of caffeine on the auditory and vestibular systems.

Nutr Neurosci 2021 Apr 22:1-14. Epub 2021 Apr 22.

Department of Audiology, School of Rehabilitation, Tehran University of Medical Sciences, Tehran, Iran.

Coffee, of which caffeine is a critical component, is probably the most frequently used psychoactive stimulant in the world. The effects of caffeine on the auditory and vestibular system have been investigated under normal and pathological conditions, such as acoustic trauma, ototoxicity, auditory neuropathy, and vestibular disorders, using various tests. Lower incidences of hearing loss and tinnitus have been reported in coffee consumers. Read More

View Article and Full-Text PDF

Etiology of early hearing loss in Brazilian children.

Braz J Otorhinolaryngol 2021 Mar 20. Epub 2021 Mar 20.

Hospital de Clínicas de Porto Alegre, Departamento de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Departamento de Oftalmologia e Otorrinolaringologia, Porto Alegre, RS, Brazil.

Introduction: Hearing loss etiology depends on the population studied as well as on the ethnicity and the socio-economic condition of the analyzed region. Etiological diagnosis contributes to the improvement of preventive measures and to the early identification of this deficiency.

Objective: To identify the etiological factors of hearing loss and its prevalence in a tertiary hospital in southern Brazil, to verify the frequency of mutations in GJB2 and GJB6 genes, and to correlate the degree of hearing loss with the etiological factors of deafness. Read More

View Article and Full-Text PDF

Cochlear Implant Outcomes in Patients with Neurosarcoidosis.

Audiol Neurootol 2021 Apr 6:1-7. Epub 2021 Apr 6.

Assistance Publique Hôpitaux de Paris, GH Pitié-Salpêtrière, Service ORL, Unité Fonctionnelle Implants Auditifs, Sorbonne Université, Paris, France.

Introduction: Audiovestibular symptoms are rare in sarcoidosis, but they may also be the first manifestation of the disease. Sudden or progressive bilateral hearing loss is usually associated with vestibular impairment. The mechanism of hearing loss remains unclear, but clinical presentation and magnetic resonance imaging suggest a retrocochlear site for the lesion in most patients. Read More

View Article and Full-Text PDF

[Childhood hearing screening: achievements, difficulties, and possible ways to improve].

Vestn Otorinolaringol 2021 ;86(1):82-89

Pavlov State Medical University, St. Petersburg, Russia.

Hearing impairment is the most common sensory impairment that is seen among adults and children. The frequency of congenital hearing loss is well-known due to implementation of newborn hearing screening. Hearing may change throughout a lifetime due to different factors and, therefore, the number of hearing impaired children increases with age. Read More

View Article and Full-Text PDF

Charcot-Marie-Tooth Disease With Long-Term Follow-Up on Auditory Neuropathy-After Cochlear Implantation Or Hearing Aid Use.

Otol Neurotol 2021 07;42(6):e635-e642

National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center.

Objective: To study the pathophysiology of Charcot-Marie-Tooth disease (CMT) with auditory neuropathy (AN) and to follow up cochlear implant or hearing aid use over the long term.

Study Design: Clinical capsule report.

Patients: Two adult CMT patients with AN. Read More

View Article and Full-Text PDF

Diabetes-induced auditory complications: are they preventable? a comprehensive review of interventions.

Eur Arch Otorhinolaryngol 2021 Feb 8. Epub 2021 Feb 8.

Department of Audiology, School of Rehabilitation, Tehran University of Medical Sciences, Pich-e-Shemiran, Enghelab Avenue, 0098, Tehran, Iran.

Diabetes mellitus is a chronic metabolic disorder characterized by elevated blood glucose levels, which, over time, lead to major chronic complications in various organs of the body. A growing body of research suggests that diabetes could also result in degenerative changes in the auditory system. To date, several attempts have been made to prevent and reduce diabetes-induced auditory complications. Read More

View Article and Full-Text PDF
February 2021

An antibody to RGMa promotes regeneration of cochlear synapses after noise exposure.

Sci Rep 2021 Feb 3;11(1):2937. Epub 2021 Feb 3.

Department of Otololaryngology, Harvard Medical School, Boston, MA, 02115, USA.

Auditory neuropathy is caused by the loss of afferent input to the brainstem via the components of the neural pathway comprising inner hair cells and the first order neurons of the spiral ganglion. Recent work has identified the synapse between cochlear primary afferent neurons and sensory hair cells as a particularly vulnerable component of this pathway. Loss of these synapses due to noise exposure or aging results in the pathology identified as hidden hearing loss, an initial stage of cochlear dysfunction that goes undetected in standard hearing tests. Read More

View Article and Full-Text PDF
February 2021

Auditory brainstem response in preterm infants with bilirubin encephalopathy.

Early Hum Dev 2021 Mar 26;154:105319. Epub 2021 Jan 26.

Department of Pediatrics and Child Health, Nihon University School of Medicine, 30-1, Oyaguchi-Kamimachi, Itabashi-ku, Tokyo 173-8610, Japan.

Aim: To clarify auditory brainstem response (ABR) in preterm infants with bilirubin encephalopathy and the relationships between ABR and clinical variables.

Method: We retrospectively reviewed the ABR waveforms of 56 preterm infants with BE and graded them as "no response", "abnormal interwave separation", or "normal". Patient backgrounds, the peak total bilirubin level, the bilirubin/albumin ratio, verbal communication ability, and newborn hearing screening test results from an automated ABR evaluation had been collected during an earlier nationwide survey. Read More

View Article and Full-Text PDF

Case Report: Auditory Neuropathy and Central Auditory Processing Deficits in a Neuro-Otological Case-Study of Infratentorial Superficial Siderosis.

Front Neurol 2020 14;11:610819. Epub 2021 Jan 14.

Ear Institute, University College London, London, United Kingdom.

Hearing and balance impairment are the most frequently reported features of infratentorial (classical) superficial siderosis (iSS). There are few comprehensive descriptions of audiovestibular function in iSS and therefore limited understanding of the affected segment(s) of the audiovestibular pathway. In addition, monitoring disease progression and response to treatment is challenging and currently mainly guided by subjective patient reports and magnetic resonance imaging. Read More

View Article and Full-Text PDF
January 2021

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.

Hum Hered 2020 22;85(1):35-39. Epub 2021 Jan 22.

Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco,

Introduction: Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder, which can have either congenital or acquired causes.

Methods: We found a disease-segregating mutation in the X-linked AIFM1 gene through whole-exome sequencing, encoding the apoptosis-inducing factor mitochondrion-associated 1. Read More

View Article and Full-Text PDF
January 2021

Contrasting mechanisms for hidden hearing loss: Synaptopathy vs myelin defects.

PLoS Comput Biol 2021 01 22;17(1):e1008499. Epub 2021 Jan 22.

Departments of Mathematics & Anesthesiology, University of Michigan, Ann Arbor, Michigan, United States of America.

Hidden hearing loss (HHL) is an auditory neuropathy characterized by normal hearing thresholds but reduced amplitudes of the sound-evoked auditory nerve compound action potential (CAP). In animal models, HHL can be caused by moderate noise exposure or aging, which induces loss of inner hair cell (IHC) synapses. In contrast, recent evidence has shown that transient loss of cochlear Schwann cells also causes permanent auditory deficits in mice with similarities to HHL. Read More

View Article and Full-Text PDF
January 2021

Auditory Neuropathy Spectrum Disorder (ANSD)-Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families.

Biomed Res Int 2020 21;2020:8843539. Epub 2020 Dec 21.

Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

Objective: To analyze the phenotypic features and pathogenic variants of three unrelated families presenting with nonsyndromic auditory neuropathy spectrum disorder (ANSD).

Methods: Three recruited families that were affected by congenital deafness were clinically evaluated, including a detailed family history and audiological and radiological examination. The peripheral blood of all patients and their parents was collected for DNA extraction, and then, the exonic and flanking regions were enriched and sequenced using targeted capture and high-throughput sequencing technology. Read More

View Article and Full-Text PDF

Hearing screening in neonates with hyperbilirubinemia.

Int J Pediatr Otorhinolaryngol 2021 Mar 23;142:110591. Epub 2020 Dec 23.

NICU, Pediatric Department, 6th of October University Hospital, 6th of October University, Egypt.

Background: Hyperbilirubinemia is toxic to the auditory pathways and to the central nervous system, leaving sequelae such as hearing loss and encephalopathy. The damage to the auditory system occurs primarily within the brainstem and cranial nerve VIII, and manifests clinically as auditory neuropathy spectrum disorder.

Aim: to establish the relationship that exists between hyperbilirubinemia at birth as a risk factor of neonatal hearing loss in children born in ABOU-EL-REISH hospital. Read More

View Article and Full-Text PDF

Subcortical neural generators of the envelope-following response in sleeping children: A transfer function analysis.

Hear Res 2021 Mar 17;401:108157. Epub 2020 Dec 17.

Laboratoire de Neurophysiologie Sensorielle et Cognitive, CP403/22, Brugmann Hospital, Place Van Gehuchten 4, Brussels 1020, Belgium. Electronic address:

Multiple auditory structures, from cochlea to cortex, phase-lock to the envelope of complex stimuli. The relative contributions of these structures to the human surface-recorded envelope-following response (EFR) are still uncertain. Identification of the active contributor(s) is complicated by the fact that even the simplest two-tone (f&f) stimulus, targeting its (f-f) envelope, evokes additional linear (f&f) and non-linear (2f-f) phase-locked components as well as a transient auditory brainstem response (ABR). Read More

View Article and Full-Text PDF

The association between consanguineous marriage and offspring with congenital hearing loss.

Ann Saudi Med 2020 Nov-Dec;40(6):456-461. Epub 2020 Dec 3.

From the Department of Otolaryngology, King Abdullah Ear Specialist Center, King Saud University, Riyadh, Saudi Arabia.

Background: Consanguinity is a commonly recognized practice among marriages in the Middle East and may lead to an increase in the prevalence of inherited disorders. Autosomal recessive deafness is the most common form of inherited congenital hearing loss (CHL).

Objectives: Determine the association of consanguineous marriages with congenital sensorineural hearing loss (SNHL) and auditory neuropathy. Read More

View Article and Full-Text PDF
December 2020

Cortical Neurophysiologic Correlates of Auditory Threshold in Adults and Children With Normal Hearing and Auditory Neuropathy Spectrum Disorder.

Am J Audiol 2021 Mar 2;30(1):28-42. Epub 2020 Dec 2.

Department of Speech, Language, and Hearing Sciences, University of Colorado Boulder.

Purpose Auditory threshold estimation using the auditory brainstem response or auditory steady state response is limited in some populations (e.g., individuals with auditory neuropathy spectrum disorder [ANSD] or those who have difficulty remaining still during testing and cannot tolerate general anesthetic). Read More

View Article and Full-Text PDF

The Many Faces of DFNB9: Relating Variants to Hearing Impairment.

Genes (Basel) 2020 11 26;11(12). Epub 2020 Nov 26.

Tübingen Hearing Research Centre, Department of Otolaryngology, Head & Neck Surgery, University of Tübingen Medical Center, 72076 Tübingen, Germany.

The gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells, the inner hair cells (IHCs). In the absence of otoferlin, signal transmission of IHCs fails due to impaired release of synaptic vesicles at the IHC synapse. Biallelic pathogenic and likely pathogenic variants in predominantly cause autosomal recessive profound prelingual deafness, DFNB9. Read More

View Article and Full-Text PDF
November 2020

Case studies in neuroscience: cortical contributions to the frequency-following response depend on subcortical synchrony.

J Neurophysiol 2021 01 18;125(1):273-281. Epub 2020 Nov 18.

Auditory Neuroscience Laboratory, Department of Communication Sciences, Northwestern University, Evanston, Illinois.

Frequency-following responses to musical notes spanning the octave 65-130 Hz were elicited in a person with auditory neuropathy, a disorder of subcortical neural synchrony, and a control subject. No phaselocked responses were observed in the person with auditory neuropathy. The control subject had robust responses synchronized to the fundamental frequency and its harmonics. Read More

View Article and Full-Text PDF
January 2021

Protection of Cochlear Ribbon Synapses and Prevention of Hidden Hearing Loss.

Neural Plast 2020 1;2020:8815990. Epub 2020 Nov 1.

Department of Otorhinolaryngology Head and Neck Surgery, Tianjin First Central Hospital, 300192 Tianjin, China.

In the auditory system, ribbon synapses are vesicle-associated structures located between inner hair cells (IHCs) and spiral ganglion neurons that are implicated in the modulation of trafficking and fusion of synaptic vesicles at the presynaptic terminals. Synapse loss may result in hearing loss and difficulties with understanding speech in a noisy environment. This phenomenon happens without permanent hearing loss; that is, the cochlear synaptopathy is "hidden. Read More

View Article and Full-Text PDF
November 2020

Electrocochleography Observations in a Series of Cochlear Implant Electrode Tip Fold-Overs.

Otol Neurotol 2021 04;42(4):e433-e437

Department of Otolaryngology - Head and Neck Surgery, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.

Objective: Tip fold-over is a rare but serious complication of cochlear implant (CI) surgery. The purpose of this study was to present intraoperative electrocochleography (ECochG) observations in a series of CI electrode tip fold-overs.

Patients: Five pediatric subjects undergoing CI surgery through a round window (RW) approach with a perimodiolar electrode array, who were diagnosed with either auditory neuropathy spectrum disorder or enlarged vestibular aqueduct. Read More

View Article and Full-Text PDF

Acoustical and Perceptual Analysis of Noise Reduction Strategies in Individuals With Auditory Neuropathy Spectrum Disorders.

J Speech Lang Hear Res 2020 12 11;63(12):4208-4218. Epub 2020 Nov 11.

Department of Audiology, All India Institute of Speech and Hearing,Manasagangothri, Mysore, Karnataka.

Purpose The conventional amplification devices render minimal or no benefit at abating the speech perception problems of individuals with auditory neuropathy spectrum disorder (ANSD). This study was undertaken to evaluate the effect of noise reduction strategies (multiband spectral subtraction, Wiener-as, Karhunen-Loeve transform [Subspace], and ideal binary mask [IdBM] algorithm) on speech using speech perception measures and acoustic measure among individuals with ANSD. Method Two groups of participants (age: 17-43 years) were recruited in the study. Read More

View Article and Full-Text PDF
December 2020