How Craniofacial Anomalies Can Obscure the Diagnosis of Unilateral Auditory Neuropathy Spectrum Disorder: A Case Study.

Comorbidities are common with craniofacial anomalies and can include auditory neuropathy spectrum disorder (ANSD). Identification of these comorbidities, such as a diagnosis of ANSD, has increased with expanded multi-disciplinary care teams and the use of auditory objective measures. Patients with craniofacial anomalies often have complex medical histories including extreme prematurity and jaundice, which may lead to the development of additional comorbidities.

The Hearing Status of Preterm Infant's ≤ 34 Weeks as Revealed by Otoacoustic Emissions (OAE) Screening and Diagnostic Brainstem Evoked Response Audiometry (BERA): A Tertiary Center Experience.

To know the prevalence of hearing loss in preterm infants & to evaluate the sensitivity & specificity of otoacoustic emission (OAE) in detecting hearing loss in preterm infants ≤ 34 weeks. A total of 70 preterm babies from 28 to 34 weeks of gestational age were enrolled in the study. Detailed prenatal, perinatal, postnatal & family history and physical examination of the babies were carried out.

Supra-Threshold Hearing Sensitivity Disorders and Mild Permanent Hearing Loss: Neglected Cause of Hidden Hearing Loss and Speech Defects.

Supra-threshold disorders in the form of auditory neuropathy (AN)/auditory dys-synchrony (AD) or central auditory processing disorders (CAPD), a special type of retrocochlear hearing loss; and also children with mild permanent hearing loss (PHL), may be missed on current hearing protocols. Otoacoustic emissions (OAE) and Brain stem evoked response audiometry (BERA), are tests, when used in combination, can indirectly help diagnose the different types of hearing loss. To correlate the parental awareness and the pattern of hearing loss (HL) in children with/without auditory and/or speech problems, using both OAE and BERA as hearing tests for indirect identification of suprathreshold disorders and mild PHL.

Auditory neuropathy: from etiology to management.

Purpose Of Review: Auditory neuropathy is a disorder of auditory dysfunction characterized by the normal function of the outer hair cells and malfunction of the inner hair cells, synapses, postsynapses and/or auditory afferent nervous system. This review summarizes the process of discovery and naming of auditory neuropathy and describes the acquired, associated genetic disorders and management available.

Recent Findings: In the last 40 years, auditory neuropathy has undergone a process of discovery, naming and progressive elucidation of its complex pathological mechanisms.

Ocular Biomarkers of Riboflavin Transporter Deficiency.

Background: To describe the clinical presentation with a focus on ocular manifestations and response to riboflavin supplementation of 3 patients with riboflavin transporter deficiency (RTD) caused by mutations in SLC52A2 ( SLC52A2- RTD).

Methods: This is a retrospective review of records of 3 children (aged 18, n = 2 and age = 8, n = 1) with SLC52A2- RTD. Patients underwent comprehensive ophthalmic evaluations including color vision testing, pattern visual-evoked potentials (pVEPs, 1 patient) and spectral domain optical coherence tomography (SD-OCT) imaging.

Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study.

With diverse etiologies and clinical features, the management of pediatric auditory neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear implants (CIs) are variable. This study aimed to investigate CI outcomes in pediatric patients with ANSD of different etiologies. Thirty-six children with ANSD who underwent cochlear implantation between 2001 and 2021 were included.

Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.

Objectives: The aim of this paper was to study the auditory phenotype of three related children with sensorineural hearing loss (2 sisters and their cousin) following genetic analysis revealing mutations in .

Methods: Genetic testing was conducted on three related children. They were assessed with a standard clinical test battery including distortion otoacoustic emissions, auditory brainstem responses and audiometry.

[Auditory neuropathy and prematurity: modern view of the issue (literature review)].

Auditory neuropathy spectrum disorder (ANSD) is a specific auditory disorder caused by dysfunction of periphery part of the auditory system, in which the function of the outer hair cells is preserved, but the afferent input at the cochlear level suffers due to the pathology of the inner hair cells, neurons of the spiral ganglion and/or the auditory nerve, as well as synaptic contact between them. 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, the discrepancy between the hearing level and the electrophysiological data, poor speech perception which may not correlate with the hearing thresholds. ANSD is a multifactorial disease.

Round Window Electrocochleography to Low Frequency Tones in Pediatric Cochlear Implant Recipients with and Without Auditory Neuropathy Spectrum Disorder: Separating Hair Cell and Neural Contributions Using a Computational Model.

Hypothesis: Characterize the contribution of the auditory nerve neurophonic (ANN) to electrocochleography (ECochG) of pediatric cochlear implant (CI) recipients with and without auditory nerve spectrum disorder (ANSD).

Background: ECochG is an emerging technique for predicting outcomes in CI recipients. Its utility may be increased by separating the cochlear microphonic (CM), produced by hair cells, from the ANN, the evoked potential correlate of neural phase-locking, which are mixed in the ongoing portion of the response to low frequency tone bursts.

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.

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.

Audiological Findings in Children with PLA2G6-Associated Neurodegeneration.

Background:  Audiological manifestations of patients with PLA2G6-associated neurodegeneration are limited.

Objective:  To analyze the audiological findings in a cohort of 13 children with infantile neuroaxonal dystrophy (INAD).

Method:  Patients underwent a battery of audiological tests including tympanometry, distortion product otoacoustic emissions, impedance audiometry, and Brainstem Auditory Evoked Potentials (BAEPs).

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

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.

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

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.

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

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 and 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.

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

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.

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

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.

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

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.

Imaging and audiological features of children with cochlear nerve deficiency.

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.

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

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.

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

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.

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

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.

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

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.