908 results match your criteria Auditory Neuropathy

Pegylated Insulin-Like Growth Factor 1 attenuates Hair Cell Loss and promotes Presynaptic Maintenance of Medial Olivocochlear Cholinergic Fibers in the Cochlea of the Progressive Motor Neuropathy Mouse.

Front Neurol 2022 3;13:885026. Epub 2022 Jun 3.

Department of Oto-Rhino-Laryngology, Plastic, Aesthetic and Reconstructive Head and Neck Surgery, University Hospital Würzburg, Würzburg, Germany.

The progressive motor neuropathy (PMN) mouse is a model of an inherited motor neuropathy disease with progressive neurodegeneration. Axon degeneration associates with homozygous mutations of the TBCE gene encoding the tubulin chaperone E protein. TBCE is responsible for the correct dimerization of alpha and beta-tubulin. Read More

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Audiological Findings in Children with PLA2G6-associated neurodegeneration.

J Am Acad Audiol 2022 Jun 15. Epub 2022 Jun 15.

Paediatric Neurologist The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia, The Children's Hospital at Westmead Clinical School, Sydney, Australia.

Audiological manifestations of patients with PLA2G6 associated neurodegeneration (PLAN) are limited. We analyzed the audiological findings in a cohort of 13 children with infantile neuroaxonal dystrophy (INAD). Patients underwent a battery of audiological tests including tympanometry, distortion product otoacoustic emissions, impedance audiometry and Brainstem Auditory Evoked Potentials (BAEP's). Read More

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Generation of a Human Deafness Sheep Model Using the CRISPR/Cas System.

Methods Mol Biol 2022 ;2495:233-244

Instituto de Reproducción Animal Uruguay, Fundación IRAUy, Montevideo, Uruguay.

CRISPR/Cas9 system is a promising method for the generation of human disease models by genome editing in non-conventional experimental animals. Medium/large-sized animals like sheep have several advantages to study human diseases and medicine. Here, we present a protocol that describes the generation of an otoferlin edited sheep model via CRISPR-assisted single-stranded oligodinucleotide-mediated Homology-Directed Repair (HDR), through direct cytoplasmic microinjection in in vitro produced zygotes. Read More

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Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

Cells 2022 05 24;11(11). Epub 2022 May 24.

IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Milan, Italy.

Hearing relies on the proper functioning of auditory hair cells and on actin-based cytoskeletal structures. Diaphanous-related formins (DRFs) are evolutionarily conserved cytoskeletal proteins that regulate the nucleation of linear unbranched actin filaments. They play key roles during metazoan development, and they seem particularly pivotal for the correct physiology of the reproductive and auditory systems. Read More

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Impaired auditory neural performance, another dimension of hearing loss in type-2 diabetes mellitus.

Diabetes Metab 2022 Jun 1:101360. Epub 2022 Jun 1.

Laboratoire de Biophysique Neurosensorielle, INSERM, Université Clermont Auvergne, Clermont-Ferrand, France; Institut de l'Audition, Institut Pasteur, INSERM, Paris. Electronic address:

Aim: to evaluate auditory performance in subjects with poorly controlled type-2 diabetes mellitus, using a simple test battery assessing sensitivity to pure tones and neuronal function.

Methods: Enrolled subjects, aged between 23-79 years, reported several auditory dysfunctions. They were tested using pure-tone audiometry, otoacoustic emissions for cochlear-function evaluation, and measurement of middle-ear muscle-reflex thresholds in search of an auditory neuropathy. Read More

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[Electrically evoked ABR through cochlear implant in children with auditory neuropathy spectrum disorder].

Vestn Otorinolaringol 2022 ;87(2):4-9

National Research Center for Audiology and Hearing Rehabilitation, Moscow, Russia.

Objective: To estimate the applicability of electrically evoked auditory brainstem response (eABR) registration for the estimation of neural integrity after cochlear implantation (CI) in children with auditory neuropathy spectrum disorder (ANSD) and to compare the eABR data with patient's hearing performance.

Material And Methods: 4 children, Nucleus (Cochlear) CI users, with ANSD were enrolled in the study. Hearing performance in these children ranged from successful to unsatisfied. Read More

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Cochlear nerve deficiency is an important cause of auditory neuropathy spectrum disorder at a population level in children.

Int J Pediatr Otorhinolaryngol 2022 Jul 4;158:111171. Epub 2022 May 4.

School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, Queensland, Australia.

Objectives: To determine the incidence, prevalence and describe risk factors and etiology for childhood Auditory Neuropathy Spectrum Disorder using population level data from a statewide universal newborn hearing program.

Methods: A retrospective statewide universal newborn hearing screening database review and descriptive analysis from 2012 to 2019 of demographic, risk factors and hearing loss etiology for babies with sensorineural hearing loss and ANSD was completed. A 2 stage aABR protocol was used and ANSD was classified when click evoked ABR were absent or grossly abnormal but otoacoustic emissions and or cochlear microphonics were present. Read More

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Auditory and Speech Outcomes of Cochlear Implantation in Children With Auditory Neuropathy Spectrum Disorder: A Systematic Review and Meta-Analysis.

Ann Otol Rhinol Laryngol 2022 May 2:34894221092201. Epub 2022 May 2.

Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, Shanghai, China.

Objective: The aim of this meta-analysis was to critically assess the effect of cochlear implantation on auditory and speech performance outcomes of children with auditory neuropathy spectrum disorder (ANSD).

Material And Methods: A systematic literature search was conducted on PubMed, EMbase, and Web of Science. The outcomes included speech recognition score, Categories of Auditory Performance (CAP), Speech Intelligibility Rating (SIR) score, and open-set speech perception. Read More

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Imaging and audiological features of children with cochlear nerve deficiency.

Ear Nose Throat J 2022 May 1:1455613221096622. Epub 2022 May 1.

Department of Neurology, Children's hospital of Fudan University, Shanghai, China.

Cochlear nerve deficiency (CND) accounts for 10-19% of hearing loss in children; this study investigated the imaging and audiological features of 25 CND children. A total of 563 children with an unpassed automatic auditory brainstem response were diagnosed with hearing loss in our department between December 2018 and December 2021, of which, the imaging and audiological features of 25 children (25/563, 4.4%) diagnosed with a CND were reviewed. Read More

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Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.

Sci Adv 2022 04 8;8(14):eabk0942. Epub 2022 Apr 8.

Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA.

Lysosomes contribute to cellular homeostasis via processes including macromolecule degradation, nutrient sensing, and autophagy. Defective proteins related to lysosomal macromolecule catabolism are known to cause a range of lysosomal storage diseases; however, it is unclear whether mutations in proteins involved in homeostatic nutrient sensing mechanisms cause syndromic sensory disease. Here, we show that SLC7A14, a transporter protein mediating lysosomal uptake of cationic amino acids, is evolutionarily conserved in vertebrate mechanosensory hair cells and highly expressed in lysosomes of mammalian cochlear inner hair cells (IHCs) and retinal photoreceptors. Read More

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Characterization of an induced pluripotent stem cell line (UMi040-A) bearing an auditory neuropathy spectrum disorder-associated variant in TMEM43.

Stem Cell Res 2022 05 21;61:102758. Epub 2022 Mar 21.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; John P. Hussman Institute for Human Genomics, John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address:

Hearing loss is one of the most common sensory disorders. TMEM43 is expressed in cochlear glia-like supporting cells (GLSs) and is known to be associated with late-onset auditory neuropathy spectrum disorder (ANSD) and progressive hearing loss. Here, we describe the derivation of an induced pluripotent stem cell (iPSC) line from a patient lymphoblastoid cell line (LCL) carrying a single heterozygous nonsense variant (p. Read More

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[Objective Audiological Test Procedures: Indications and Differential Diagnostics].

Laryngorhinootologie 2022 Apr 23;101(4):335-362. Epub 2022 Mar 23.

Universitätsklinik und Poliklinik für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals- Chirurgie, Universitätsklinikum Halle (Saale), Martin-Luther-Universität Halle-Wittenberg, Halle (Saale), Halle (Saale), Germany.

Diagnostics of hearing loss comprises subjective and objective methods and is successfully applied since many decades. This article introduces into the methods of impedance audiometry, otoacoustic emissions, auditory evoked potentials and electrically evoked potentials and describes the respective methodologies. Using an exemplary case, in this article we guide through all stages of objective audiological diagnostics and introduce the scientific and technical background, the application and evaluation of the findings of the objective test procedures. Read More

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[The issue of auditory neuropathy: from origins to the present].

Vestn Otorinolaringol 2022 ;87(1):60-69

Pavlov State Medical University, St. Petersburg, Russia.

The issue of auditory neuropathy spectrum disorders (ANSD) has been in a focus of specialists attention for a relatively short time, but during this time a huge amount of scientific and practical knowledge about this hearing disorder has been accumulated. ANSD is a specific auditory deficit caused by dysfunction of periphery part of the auditory system, which may affect the inner hair cells, the spiral ganglion neurons and the auditory nerve, as well as the area of synaptic contact between them, while the outer hair cells, as a rule, remain intact. As a result, a specific condition is formed, in which a patient's otoacoustic emissions and/or cochlear microphonics are present, auditory brainstem responses are abnormal or absent, electrophysiological data may not correlate with hearing level, the discrepancy between pure tone audiometry and speech discrimination is observed. Read More

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Determination of language performance by discriminant function analysis in Mandarin-speaking preschoolers with auditory neuropathy spectrum disorder.

Int J Pediatr Otorhinolaryngol 2022 Apr 18;155:111088. Epub 2022 Feb 18.

Children's Hearing Foundation, Taiwan.

Objective: Characteristics of the audiological performance of children with auditory neuropathy spectrum disorder (ANSD) have been identified; however, studies regarding factors influencing their language development, especially those related to aural-oral rehabilitation, are relatively few. This study aimed to investigate classification functions among the factors regarding audiological, interventional (rehabilitation) and demographic variables that can help determine group membership in language performance for Mandarin-speaking preschoolers with ANSD.

Methods: Children with ANSD aged 3-6 years (n = 27) enrolled in an auditory-verbal therapy were recruited. Read More

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Mitochondrial Disease and Hearing Loss in Children: A Systematic Review.

Laryngoscope 2022 Feb 21. Epub 2022 Feb 21.

Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, Salzburg, Austria.

Objectives: Hearing loss is a clinical symptom, frequently mentioned in the context of mitochondrial disease. With no cure available for mitochondrial disease, supportive treatment of clinical symptoms like hearing loss is of the utmost importance. The aim of this study was to summarize current knowledge on hearing loss in genetically proven mitochondrial disease in children and deduce possible and necessary consequences in patient care. Read More

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February 2022

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Hum Mol Genet 2022 Feb 11. Epub 2022 Feb 11.

Laboratory Genetic Metabolic Diseases, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.

Mitochondrial diseases are a group of inherited diseases with highly varied and complex clinical presentations. Here, we report four individuals, including two siblings, affected by a progressive mitochondrial encephalopathy with biallelic variants in the cardiolipin biosynthesis gene CRLS1. Three affected individuals had a similar infantile presentation comprising progressive encephalopathy, bull's eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death. Read More

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February 2022

Auditory and verbal skills development post-cochlear implantation in Mandarin children with auditory neuropathy: a follow-up study.

Acta Otolaryngol 2022 Feb 27;142(2):175-181. Epub 2022 Jan 27.

Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Background: Cochlear implant (CI) is commonly used as one of the interventions in auditory neuropathy (AN) children. However, there are limited studies regarding the efficiency of CI in AN children.

Objective: This study aimed to compare the auditory and verbal skills development between the AN and typically developing (TD) children with CI. Read More

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February 2022

Novel Pathogenic Variants in , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.

Genes (Basel) 2022 01 15;13(1). Epub 2022 Jan 15.

Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.

Pathogenic variants in the gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochlear hearing loss. The numbers of reported cases and pathogenic variants are still small to establish accurate genotype-phenotype correlations. Read More

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January 2022

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.

Audiol Res 2021 Nov 26;11(4):639-652. Epub 2021 Nov 26.

Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy.

Auditory Neuropathy (AN) is characterized by disruption of temporal coding of acoustic signals in auditory nerve fibers resulting in alterations of auditory perceptions. Mutations in several genes have been associated to the most forms of AN. Underlying mechanisms include both pre-synaptic and post-synaptic damage involving inner hair cell (IHC) depolarization, neurotransmitter release, spike initiation in auditory nerve terminals, loss of auditory fibers and impaired conduction. Read More

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November 2021

Prevalence, risk factors, and audiological characteristics of auditory neuropathy.

Int J Audiol 2021 Dec 20:1-9. Epub 2021 Dec 20.

College of Applied Medical Sciences, University of Hail, Hail, Saudi Arabia.

Objective: The objective of this study was to determine the prevalence, risk factors, and audiological characteristics of auditory neuropathy spectrum disorder (ANSD) in the pediatric population.

Design: A retrospective review of medical charts was conducted for children visiting two hospitals in Saudi Arabia.

Study Sample: Medical records of 1025 patients with sensorineural hearing loss (SNHL) were reviewed. Read More

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December 2021

The impact of cochlear implantation on speech and language outcomes in children with asymmetric sensorineural hearing loss.

Int J Pediatr Otorhinolaryngol 2022 Jan 17;152:110979. Epub 2021 Nov 17.

Department of Pediatric Otolaryngology, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address:

Introduction: Cochlear implantation (CI) is considered in children with asymmetric sensorineural hearing loss (ASHL), or severe to profound sensorineural hearing loss in one ear, and better hearing contralaterally. The benefits of a CI in these children are not well established. This study investigated the impact of unilateral CI on speech and language outcomes in pediatric patients with ASHL. Read More

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January 2022

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review.

Audiol Res 2021 Nov 13;11(4):609-617. Epub 2021 Nov 13.

Otolaryngology, Audiology and Phoniatrics Unit, University of Pisa, 56100 Pisa, Italy.

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. Read More

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November 2021

Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis.

Acta Otorhinolaryngol Ital 2021 12 26;41(6):496-506. Epub 2021 Nov 26.

ENT Department, Turin University, Italy.

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December 2021

Vestibular and radiological characteristics of children affected by unilateral auditory neuropathy spectrum disorder.

Int J Pediatr Otorhinolaryngol 2022 Jan 10;152:110967. Epub 2021 Nov 10.

Department of Otolaryngology Head and Neck Surgery, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Bruxelles, Belgium, Avenue Jean Joseph Crocq, 15, 1020, Bruxelles, Belgium.

Objective: Auditory neuropathy spectrum disorders (ANSD) are defined by the association of a preserved outer hair cell function and an impaired auditory nerve neural response, and present mostly bilaterally. Unilateral ANSD are consequently only seldom described, and most frequently as isolated cases. This study aims to describe the audiological, vestibular and radiological characteristics of a population of children with unilateral ANSD. Read More

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January 2022

Kernicterus Spectrum Disorders Diagnostic Toolkit: validation using retrospective chart review.

Pediatr Res 2022 03 5;91(4):862-866. Epub 2021 Nov 5.

University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.

Background: Kernicterus Spectrum Disorders (KSDs) result from hyperbilirubinemia-induced brain injury. We developed a Toolkit (KSD-TK) to predict the likelihood of KSDs. This study aims to validate the KSD-TK by comparing it to clinical diagnoses made by the Kernicterus Clinic in the Division of Neurology. Read More

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A Deafness Associated Protein TMEM43 Interacts with KCNK3 (TASK-1) Two-pore Domain K (K2P) Channel in the Cochlea.

Exp Neurobiol 2021 Oct;30(5):319-328

KU-KIST Graduate School of Converging Science and Technology, Korea University, Seoul 02841, Korea.

The TMEM43 has been studied in human diseases such as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) and auditory neuropathy spectrum disorder (ANSD). In the heart, the p.(Ser358Leu) mutation has been shown to alter intercalated disc protein function and disturb beating rhythms. Read More

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October 2021

Prevalence, behavioural, and management outcomes of infants with auditory neuropathy spectrum disorder.

Dev Med Child Neurol 2022 05 30;64(5):593-599. Epub 2021 Oct 30.

Nottingham University Hospitals NHS Trust, Nottingham, UK.

Aim: To provide an overview of electrophysiological and behavioural outcomes from a large UK centres data set on children diagnosed with auditory neuropathy (ANSD) between 2002 and March 2018.

Method: A systematic audit was undertaken, collating the electrophysiological data from auditory brainstem response (ABR) follow-up, risk factors, and later behavioural results/management. These were then compared to look for trends between groups. Read More

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