Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.

Auditory neuropathy spectrum disorder (ANSD) is often missed by standard hearing tests, accounting for up to 10% of hearing impairments (HI) and commonly linked to variants in 23 genes. We assessed 122 children with HI, including 102 with sensorineural hearing loss (SNHL) and 20 with ANSD. SNHL patients were genotyped for common variants using qPCR, while ANSD patients underwent whole exome sequencing, with variants analyzed across 249 genes.

Canonical MAPK signaling in auditory neuropathy.

Auditory neuropathy (AN) is an under-recognized form of hearing loss characterized by lesions in inner hair cells (IHCs), ribbon synapses and spiral ganglion neurons (SGNs). The lack of a targeted therapy for AN has increased the need for a better understanding of the pathogenic mechanism of AN. As mitogen-activated protein kinase (MAPK) signaling is ubiquitous in many biological processes, its alteration may facilitate the pathogenesis of multiple sites in AN.

Neural tracking of the speech envelope predicts binaural unmasking.

Binaural unmasking is a remarkable phenomenon that it is substantially easier to detect a signal in noise when the interaural parameters of the signal are different from those of the noise - a useful mechanism in so-called cocktail party scenarios. In this study, we investigated the effect of binaural unmasking on neural tracking of the speech envelope. We measured EEG in 8 participants who listened to speech in noise at a fixed signal-to-noise ratio, in two conditions: one where speech and noise had the same interaural phase difference (both speech and noise having an opposite waveform across ears, SπNπ), and one where the interaural phase difference of the speech was different from that of the noise (only the speech having an opposite waveform across ears, SπN).

Postoperative Auditory Progress in Cochlear-Implanted Children With Auditory Neuropathy.

Purpose: This study aims to evaluate the effect of auditory neuropathy spectrum disorder (ANSD) on postoperative auditory perception and listening difficulties in pediatric cochlear implant (CI) recipients.

Method: The Children's Auditory Perception Test (CAPT) assesses auditory perception skills, and the Children's Home Inventory of Listening Difficulties (CHILD) Scale evaluates daily listening difficulties. The study involved pediatric CI recipients ( = 40) aged between 5 and 7 years, with and without diagnosis of ANSD.

Polygenic Risk Scores and Hearing Loss Phenotypes in Children.

Importance: Monogenic causes of childhood hearing loss are well established, as are polygenic risk contributions to age-related hearing loss. However, an untested possibility is that polygenic risk scores (PRS) also contribute to childhood hearing loss of all severities, alongside environmental and/or monogenic causes.

Objective: To examine the association between a PRS for adult hearing loss and childhood hearing loss phenotypes.

Auditory and vestibular function in mitochondrial patients harbouring the m.3243A>G variant.

Hearing impairment is a frequent clinical feature in patients with mitochondrial disease harbouring the pathogenic variant, m.3243A>G. However, auditory neural dysfunction, its perceptual consequences and implications for patient management are not established.

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study.

Background: Riboflavin transporter deficiency (RTD) is an inborn error of riboflavin transport causing progressive neurological symptoms if left untreated. While infants with symptomatic RTD rapidly deteriorate, presentation later in childhood or in adulthood is more gradual. Symptoms overlap with more common diseases, carrying a risk of misdiagnosis, and given the relatively recent discovery of the genetic basis of RTD in 2010 it is likely that older patients have not been tested.

Early cochlear implantation: exploring electrophysiological thresholds and their role in pre-behavioural recommendations.

Background And Aims: Studies investigating the relationship between initial electrophysiological thresholds and subsequent behavioural hearing thresholds have demonstrated uncertainty as to whether initial results can provide an accurate estimation of an infant's functional hearing. This estimation must be accurate if a cochlear implant (CI) is to be considered before behavioural audiometry.This study aims to explore the variance between initial electrophysiological thresholds and subsequent behavioural hearing thresholds in infants to determine under which conditions electrophysiological results can be used to support a CI recommendation before behavioural audiology.

Detailed characterization of auditory neuropathy in Perrault syndrome with TWNK variants.

Perrault syndrome is an autosomal recessive condition characterized by hearing loss and ovarian failure. Hearing loss in Perrault syndrome has been reported as sensorineural; however, only two cases in a single report have comprehensively investigated hearing in Perrault syndrome with TWNK variant, and the association between this variant and auditory neuropathy has not been established. The proband presented with hearing difficulties and primary amenorrhea.

Stub1 promotes degradation of the activated Diaph3: A negative feedback regulatory mechanism of the actin nucleator.

The formin protein Diaph3 is an actin nucleator that regulates numerous cytoskeleton-dependent cellular processes through the activation of actin polymerization. Expression and activity of Diaph3 is tightly regulated: lack of Diaph3 results in developmental defects and embryonic lethality in mice, while overexpression of Diaph3 causes auditory neuropathy. It is known that Diaph3 homophilic interactions include the intramolecular interaction of its Dia-inhibitory domain (DID)-diaphanous autoregulatory domain (DAD) domains and the intermolecular interactions of DD-DD domains or FH2-FH2 domains.

Novel extracorporeal treatment for severe neonatal jaundice: a mathematical modelling study of allo-hemodialysis.

Severe Neonatal Jaundice (SNJ) causes long-term neurocognitive impairment, cerebral palsy, auditory neuropathy, deafness, or death. We developed a mathematical model for allo-hemodialysis as a potential blood purification method for the treatment of SNJ in term or near-term infants. With allo-hemodialysis (allo-HD), the neonate's blood flows through hollow fibers of a miniature 0.

Hearing loss secondary to variants in the OTOF gene.

Objective: Genetic variants in the OTOF gene are responsible for non-syndromic hearing loss with an autosomal recessive inheritance pattern. The objective of our work was to evaluate the clinical characteristics of patients with biallelic pathogenic variants in OTOF and their evolution after treatment.

Methods: A cohort of 124 patients with prelingual hearing loss, studied from 1996 to 2023, was included in this study.

Masseter and cervical vestibular evoked myogenic potentials in individuals with auditory neuropathy.

Objective: This study aimed to explore the functional integrity of vestibulo-masseteric and sacculo-collic reflex pathways in individuals with Auditory Neuropathy (AN). The study also aimed at finding the correlation between mVEMP and cVEMP response parameters for AN and healthy individuals.

Design: Standard group comparison research design.

Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.

Introduction: Hearing loss is a common sensory disorder that impacts patients across the lifespan. Many genetic variants have been identified that contribute to non-syndromic hearing loss. Yet, genetic testing is not routinely administered when hearing loss is diagnosed, particularly in adults.

Measurement of thresholds using Chirp-ABR in children with auditory neuropathy spectrum disorder and sensorineural hearing loss.

Aim: This study explored the value of Chirp-auditory brainstem response (ABR) thresholds in assessing the hearing threshold of children diagnosed with auditory neuropathy spectrum disorder (ANSD).

Methods: A total of 20 children with ANSD (40 ears, aged 1.5-7.

Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model.

Hidden hearing loss (HHL), a recently described auditory neuropathy characterized by normal audiometric thresholds but reduced sound-evoked cochlear compound action potentials, has been proposed to contribute to hearing difficulty in noisy environments in people with normal hearing thresholds and has become a widespread complaint. While most studies on HHL pathogenesis have focused on inner hair cell (IHC) synaptopathy, we recently showed that transient auditory nerve (AN) demyelination also causes HHL in mice. To test the effect of myelinopathy on hearing in a clinically relevant model, we studied a mouse model of Charcot-Marie-Tooth type 1A (CMT1A), the most prevalent hereditary peripheral neuropathy in humans.

Cochlear reimplantation outcomes over 20 years: Expertise in reimplantation surgery and auditory-speech rehabilitation.

Objectives: The aim of this study was to present an institution's experience with cochlear reimplantation (CRI), to assess surgical challenges and post-operative outcomes and to increase the success rate of CRI.

Study Design: Retrospective single-institution study.

Setting: Tertiary medical center.

A systematic review of acoustic change complex (ACC) measurements and applicability in children for the assessment of the neural capacity for sound and speech discrimination.

Objective: The acoustic change complex (ACC) is a cortical auditory evoked potential (CAEP) and can be elicited by a change in an otherwise continuous sound. The ACC has been highlighted as a promising tool in the assessment of sound and speech discrimination capacity, and particularly for difficult-to-test populations such as infants with hearing loss, due to the objective nature of ACC measurements. Indeed, there is a pressing need to develop further means to accurately and thoroughly establish the hearing status of children with hearing loss, to help guide hearing interventions in a timely manner.

Assessing Neural Synchrony in the Cochlear Nerve to Electrical Stimulation in Children With Auditory Neuropathy Spectrum Disorder.

Objectives: This study reported phase locking values (PLVs) that quantified the trial-to-trial phase coherence of electrically evoked compound action potentials in children with auditory neuropathy spectrum disorders (ANSD) and children with Gap Junction Beta 2 (GJB2) mutations, a patient population without noticeable cochlear nerve damage.

Design: PLVs were measured at three electrode locations in 11 children with ANSD and 11 children with GJB2 mutations. Smaller PLVs indicated poorer neural synchrony.