Search Results (21)

Background: Although hearing loss influences voice characteristics, such changes may be under-recognized during clinical consultations. This systematic review examines voice alterations in adults with post-lingual hearing loss, considering diagnostic and rehabilitative implications. Methods: A comprehensive search of PubMed, Scopus, and Google Scholar was conducted following PRISMA guidelines, targeting studies reporting quantitative data on vocal parameters in adults with sensorineural hearing loss. Exclusion criteria included pre-lingual hearing loss and non-English studies. Data extraction focused on pitch, loudness, and prosody, with study quality assessed using NIH tools. Results: Eleven case–control studies, involving 594 patients with sensorineural hearing loss and 326 control patients, were analyzed. Patients with untreated hearing loss exhibited elevated fundamental frequency, F₀ (males: 158–169 Hz; females: 206–251 Hz) and loudness levels (males: 79–96 dB; females: 89–116 dB) compared to controls (F₀—males: 75–150 Hz; females: 150–300 Hz; loudness—males: 30–70 dB; females: 40–68 dB). Alterations in jitter, shimmer, and maximum phonation time (MPT) contributed to the distinct “hearing loss voice”. Cochlear implants (CIs) and hearing aids improved vocal parameters, with CIs reducing F₀ by approximately 12–15 Hz. Continuous hearing aid use normalized pitch and loudness within four months. Prosody alterations, such as monotone speech, were reported in long-term cases. In noisy environments, individuals with hearing loss exhibited exaggerated increases in pitch and loudness, indicative of compensatory mechanisms. Conclusions: Post-lingual hearing loss disrupts the central regulation of voice, altering pitch, loudness, and other vocal parameters. Recognizing these changes, particularly in noisy environments, could facilitate the early diagnosis and timely rehabilitation of hearing deficits, potentially mitigating associated risks of cognitive decline. Full article

Background: Sensory loss may lead to intra- and cross-modal cortical reorganization. Previous research showed a significant correlation between the cross-modal contribution of the right auditory cortex to visual evoked potentials (VEP) and speech perception in cochlear implant (CI) users with prelingual hearing loss (HL), but not in those with postlingual HL. The present study aimed to explore the cortical reorganization induced by postlingual HL, particularly in the right temporal region, and how it correlates with speech perception outcome with a CI. Material and Methods: A total of 53 adult participants were divided into two groups according to hearing ability: 35 had normal hearing (NH) (mean age = 62.10 years (±7.48)) and 18 had profound postlingual HL (mean age = 63.78 years (±8.44)). VEPs, using a 29-channel electroencephalogram (EEG) system, were recorded preoperatively in the 18 patients scheduled for cochlear implantation and in 35 NH adults who served as the control group. Amplitudes and latencies of the P100, N100, and P200 components were analyzed across frontal, temporal, and occipital areas and compared between NH and HL subjects using repeated measures ANOVA. For the HL group, speech perception in quiet was assessed at 6 and 12 months of CI use. Results: No difference was found in amplitudes or latencies of the P100, N100, and P200 VEP components between the NH and HL groups. Further analysis using Spearman correlations between preoperative amplitudes and latencies of the P100, N100, and P200 VEP components at the right temporal electrode position T8 and postoperative speech perception showed that the HL group had either significantly higher or significantly lower amplitudes of the P200 component at the right temporal electrode position T8 compared to the NH controls. The HL subgroup with higher amplitudes had better speech perception than the subgroup with lower amplitudes at 6 months and 12 months of CI use. Conclusions: Preoperative evaluation of cortical plasticity can reveal plasticity profiles, which might help to better predict postoperative speech outcomes and adapt the rehabilitation regimen after CI activation. Further research is needed to understand the susceptibility of each component to cross-modal reorganization and their specific contribution to outcome prediction. Full article

Background/Objectives: The aim of this study was to assess auditory development in young children with profound hearing loss, cochlear implants (CIs), and congenital cytomegalovirus (cCMV) infection and to determine the effect of comorbidities on their development. Methods: The study group (cCMV group) consisted of 47 CI children—18 girls and 29 boys—who had been diagnosed as having prelingual hearing loss due to cCMV infection (with or without comorbidities); the mean age at CI activation was 15.2 months (range: 9.7–23.8; SD = 3.5). The reference group (no cCMV) consisted of 117 similar children (57 girls and 60 boys) who had profound sensorineural hearing loss not caused by cCMV infection; they had no comorbidities. The mean age at CI activation in the second group was 14.3 months (range: 7.9–23.5; SD = 4.0). Auditory development in all children was assessed with the LittlEARS Auditory Questionnaire (LEAQ) at CI activation and at about 1, 5, 9, 14, and 24 months of CI use. Results: The mean LEAQ total score increased over a similar time frame from 9.8 pts to 28.9 pts in the cCMV group without comorbidities, from 4.5 pts to 18.5 pts in the cCMV group with comorbidities, and from 9.2 to 31.6 pts in the reference group with no cCMV infection. Conclusions: Early cochlear implantation in children with sensorineural hearing loss due to congenital CMV infection and no comorbidities promotes their early auditory development in a similar way to children without cCMV infection. Full article

Background: It has been reported in many previous studies that the lack of auditory input due to hearing loss (HL) can induce changes in the brain. However, most of these studies have focused on individuals with pre-lingual HL and have predominantly compared the characteristics of those with normal hearing (NH) to cochlear implant (CI) users in children. This study examined the visual and auditory evoked potential characteristics in NH listeners, individuals with bilateral HL, and CI users, including those with single-sided deafness. Methods: A total of sixteen participants (seven NH listeners, four individuals with bilateral sensorineural HL, and five CI users) completed speech testing in quiet and noise and evoked potential testing. For speech testing, the Korean version of the Hearing in Noise Test was used to assess individuals’ speech understanding ability in quiet and in noise (noise from the front, +90 degrees, and −90 degrees). For evoked potential testing, visual and auditory (1000 Hz, /ba/, and /da/) evoked potentials were measured. Results: The results showed that CI users understood speech better than those with HL in all conditions except for the noise from +90 and −90 degrees. In the CI group, a decrease in P1 amplitudes was noted across all channels after implantation. The NH group exhibited the highest amplitudes, followed by the HL group, with the CI group (post-CI) showing the lowest amplitudes. In terms of auditory evoked potentials, the smallest amplitude was observed in the pre-CI condition regardless of the type of stimulus. Conclusions: To the best of our knowledge, this is the first study that examined visual and auditory evoked potentials based on various hearing profiles. The characteristics of evoked potentials varied across participant groups, and further studies with CI users are necessary, as there are significant challenges in collecting and analyzing evoked potentials due to artifact issues on the CI side. Full article

Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the KARS1, HARS2, LARS2 and NARS2 genes) results in a great variety of phenotypes ranging from non-syndromic hearing impairment (NSHI) to very complex syndromes, with a predominance of neurological signs. The diversity of roles that are played by these moonlighting enzymes and the fact that most pathogenic variants are missense and affect different domains of these proteins in diverse compound heterozygous combinations make it difficult to establish genotype–phenotype correlations. We used a targeted gene-sequencing panel to investigate the presence of pathogenic variants in those four genes in cohorts of 175 Spanish and 18 Colombian familial cases with non-DFNB1 autosomal recessive NSHI. Disease-associated variants were found in five cases. Five mutations were novel as follows: c.766C>T in KARS1, c.475C>T, c.728A>C and c.1012G>A in HARS2, and c.795A>G in LARS2. We provide audiograms from patients at different ages to document the evolution of the hearing loss, which is mostly prelingual and progresses from moderate/severe to profound, the middle frequencies being more severely affected. No additional clinical sign was observed in any affected subject. Our results confirm the involvement of KARS1 in DFNB89 NSHI, for which until now there was limited evidence. Full article

Introduction: Hearing loss in childhood compromises a child’s auditory, linguistic, and social skill development. Stimulation and early intervention through therapy and the use of personal sound amplification devices (PSAPs) are important for improving communication. Purpose: To verify the effectiveness of speech therapy intervention on the auditory and linguistic skills of Brazilian children aged between 6 and 8 years using PSAPs. Methods: Experimental study analyzing the intervention process in children aged between 6 and 8 years with mild to severe bilateral hearing loss and prelingual deafness who are PSAP users. Diagnostic information was analyzed, and assessments and interventions were carried out using the Glendonald Auditory Screening Procedure (GASP), a phoneme discrimination test with figures (TFDF), an expressive language category classification test, and an Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) questionnaire. Results: Sixteen children participated in the study; they were divided into a control group (CG) of six children and an intervention group (IG) of ten children. All research subjects underwent two protocol application sessions, and the IG underwent six speech therapy intervention sessions. In the IT-MAIS, the CG had a 9% increase in score, and the IG had an increase of 3% after intervention. The TFDF obtained a 5% increase in the IG in terms of phonemic discrimination ability. The expressive language category classification tests and GASP were considered not sensitive enough to modify the parameters of auditory and linguistic skills. Conclusions: The study found a significant improvement amongst the IG in the TFDF protocol and an increase in IT-MAIS scores in both groups. Full article

Cochlear implantation gives children with prelingual severe hearing loss and deafness the opportunity to develop their hearing abilities, speech, language, cognitive abilities and academic skills with adequate rehabilitation. The aim of the research was to analyze verbal, figural and arithmetic fluency and their interrelationship in children with a cochlear implant (CI) and children with normal hearing (NH). A total of 46 children with CI and 110 children with NH, aged 9 to 16, participated in the research. Verbal fluency was assessed using phonemic and semantic fluency, and non-verbal fluency using figural fluency. Arithmetic fluency was assessed using simple arithmetic tasks within the number range up to 100. The results showed that children with CI achieved poorer results in phonemic fluency (z = −4.92; p < 0.001), semantic fluency (z = −3.89; p < 0.001), figural fluency (z = −3.07; p = 0.002), and arithmetic fluency (z = −4.27; p < 0.001). In both groups, a positive correlation was obtained between the measured modalities and types of fluency. In the group of children with CI, a sex difference was obtained on the phonemic fluency test, in favor of girls. The age of children with CI was correlated with arithmetic fluency. Verbal, figural and arithmetic fluency of children with CI speak in favor of the importance of early auditory and language experiences. Full article

The effect of insertion depth and position of cochlear implant (CI) electrode arrays on speech perception remains unclear. This study aimed to determine the relationship between cochlear coverage and speech performance in children with prelingual hearing loss with CI. Pure tone audiometry (PTA) and speech audiometry, including speech reception threshold (SRT) using spondee words and speech discrimination score (SDS) using phonetically balanced monosyllabic words, were tested. The Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scales were also used. Thirty-one ears were implanted with the FLEX 28 electrode array, and 54 with the FORM 24 were included in the current study. For the studied ear, the mean cochlear duct length was 30.82 ± 2.24 mm; the mean cochlear coverage was 82.78 ± 7.49%. Cochlear coverage was a significant negative predictor for the mean pure tone threshold across frequecnies of 0.5, 1, 2, and 4 kHz (PTA4) (p = 0.019). Cochlear coverage was a significant positive predictor of SDS (p = 0.009). In children with cochlear coverage ≥ 82.78%, SDS was significantly better than in those with coverage < 82.78% (p = 0.04). Cochlear coverage was not a significant predictor of the SRT, CAP, or SIR. In conclusion, the cochlear coverage of the CI electrode array has an impact on the users’ SDS. Further long-term studies with larger sample sizes should be conducted to address the most critical factors affecting CI recipients’ outcomes. Full article

Background and objectives: Otoferlin is a multi-C2 domain protein implicated in neurotransmitter-containing vesicle release and replenishment of the cochlear inner hair cell (IHC) synapses. Mutations in the OTOF gene have been associated with two different clinical phenotypes: a prelingual severe-to-profound sensorineural hearing loss (ANSD-DFNB9); and the peculiar temperature-sensitive auditory neuropathy (TS-ANSD), characterized by a baseline mild-to-moderate hearing threshold that worsens to severe-to-profound when the body temperature rises that returns to a baseline a few hours after the temperature has fallen again. The latter clinical phenotype has been described only with a few OTOF variants with an autosomal recessive biallelic pattern of inheritance. Case report: A 7-year-old boy presented a picture compatible with TS-ANSD exacerbated by febrile states or physical exercise with mild-to-moderate hearing loss at low and medium frequencies and a decrease in speech discrimination that worsened with an unfavorable speech-to-noise ratio. Otoacoustic emissions (OAEs) were present whereas auditory brainstem responses (ABRs) evoked by a click or tone-burst were generally absent. No inner ear malformations were described from the CT scan or MRI. Next-generation sequencing (NGS) of the known deafness genes and multi-phasic bioinformatic analyses of the data detected in OTOF a c.2521G>A missense variant and the deletion of 7.4 Kb, which was confirmed by array-comparative genomic hybridization (array-CGH). The proband’s parents, who were asymptomatic, were tested by Sanger sequencing and the father presented the c.2521G>A missense variant. Conclusions: The picture presented by the patient was compatible with OTOF-induced TS-ANSD. OTOF has been generally associated with an autosomal recessive biallelic pattern of inheritance; in this clinical report, two pathogenic variants never previously associated with TS-ANSD were described. Full article

Adaptive tests of sentences in noise mimic the challenge of daily listening situations. The aims of the present study were to validate an adaptive version of the HeBio sentence test on normal hearing (NH) adults; to evaluate the effect of age and type of noise on speech reception threshold in noise (SRTn); and to test it on prelingual adults with cochlear implants (CI). In Experiment 1, 45 NH young adults listened to two lists accompanied by four-talker babble noise (4TBN). Experiment 2 presented the sentences amidst 4TBN or speech-shaped noise (SSN) to 80 participants in four age groups. In Experiment 3, 18 CI adult users with prelingual bilateral profound hearing loss performed the test amidst SSN, along with HeBio sentences and monosyllabic words in quiet and forward digits span. The main findings were as follows: SRTn for NH participants was normally distributed and had high test–retest reliability; SRTn was lower among adolescents and young adults than middle-aged and older adults, and were better for SSN than 4TBN; SRTn for CI users was higher and more variant than for NH and correlated with speech perception tests in quiet, digits span, and age at first CI. This suggests that the adaptive HeBio can be implemented in clinical and research settings with various populations. Full article

A cochlear implant (CI) is currently the only FDA-approved biomedical device that can restore hearing for the majority of patients with severe-to-profound sensorineural hearing loss (SNHL). While prelingually and postlingually deaf individuals benefit substantially from CI, the outcomes after implantation vary greatly. Numerous studies have attempted to study the variables that affect CI outcomes, including the personal characteristics of CI candidates, environmental variables, and device-related variables. Up to 80% of the results remained unexplainable because all these variables could only roughly predict auditory performance with a CI. Brain structure/function differences after hearing deprivation, that is, cortical reorganization, has gradually attracted the attention of neuroscientists. The cross-modal reorganization in the auditory cortex following deafness is thought to be a key factor in the success of CI. In recent years, the adaptive and maladaptive effects of this reorganization on CI rehabilitation have been argued because the neural mechanisms of how this reorganization impacts CI learning and rehabilitation have not been revealed. Due to the lack of brain processes describing how this plasticity affects CI learning and rehabilitation, the adaptive and deleterious consequences of this reorganization on CI outcomes have recently been the subject of debate. This review describes the evidence for different roles of cross-modal reorganization in CI performance and attempts to explore the possible reasons. Additionally, understanding the core influencing mechanism requires taking into account the cortical changes from deafness to hearing restoration. However, methodological issues have restricted longitudinal research on cortical function in CI. Functional near-infrared spectroscopy (fNIRS) has been increasingly used for the study of brain function and language assessment in CI because of its unique advantages, which are considered to have great potential. Here, we review studies on auditory cortex reorganization in deaf patients and CI recipients, and then we try to illustrate the feasibility of fNIRS as a neuroimaging tool in predicting and assessing speech performance in CI recipients. Here, we review research on the cross-modal reorganization of the auditory cortex in deaf patients and CI recipients and seek to demonstrate the viability of using fNIRS as a neuroimaging technique to predict and evaluate speech function in CI recipients. Full article

Cochlear implantation is usually not recommended for prelingual profoundly deaf adults, although some of these patients might benefit from it. This study aims to define the candidates for cochlear implantation in this population. This retrospective study reviewed 34 prelingual profoundly deaf patients who had received a cochlear implant at 32 ± 1.7 years old (16–55), with at least 1 year of follow-up. Speech perception and quality of life were assessed before and 3, 6, and 12 months after cochlear implantation, then every year thereafter. According to the word speech intelligibility in quiet (WSI) 1 year after implantation, two groups were identified: good performer (GP) with WSI ≥ 50% (n = 15), and poor performer (PP) with WSI ≤ 40% (n = 19). At the 1 year mark, mean WSI improved by 28 ± 4.6% (−20–100) (p < 0.0001). In GP, the intelligibility for words and sentences, communication and quality of life scales improved. In PP, the communication scale improved, but not auditory performance or quality of life. GP and PP differed pre-operatively in speech production, communication abilities, and WSI in best-aided conditions. In prelingual profoundly deaf adults, a dramatic auditory performance benefit could be expected after cochlear implantation if the patients have some degree of speech intelligibility in aided conditions and have developed oral communication and speech production. Full article

Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The long tradition of consanguinity among the Qatari population has increased the prevalence of HHL, which negatively impacts the quality of life. Here, we functionally validated the pathogenicity of the c.178G>C, p.E60Q mutation in the MYO6 gene, which was detected previously in a Qatari HHL family, using cellular and animal models. In vitro analysis was conducted in HeLa cells transiently transfected with plasmids carrying MYO6^WT or MYO6^p.E60Q, and a zebrafish model was generated to characterize the in vivo phenotype. Cells transfected with MYO6^WT showed higher expression of MYO6 in the plasma membrane and increased ATPase activity. Modeling the human MYO6 variants in zebrafish resulted in severe otic defects. At 72 h post-injection, MYO6^p.E60Q embryos demonstrated alterations in the sizes of the saccule and utricle. Additionally, zebrafish with MYO6^p.E60Q displayed super-coiled and bent hair bundles in otic hair cells when compared to control and MYO6^WT embryos. In conclusion, our cellular and animal models add support to the in silico prediction that the p.E60Q missense variant is pathogenic and damaging to the protein. Since the c.178G>C MYO6 variant has a 0.5% allele frequency in the Qatari population, about 400 times higher than in other populations, it could contribute to explaining the high prevalence of hearing impairment in Qatar. Full article

The OTOF 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 OTOF predominantly cause autosomal recessive profound prelingual deafness, DFNB9. Due to the isolated defect of synaptic transmission and initially preserved otoacoustic emissions (OAEs), the clinical characteristics have been termed “auditory synaptopathy”. We review the broad phenotypic spectrum reported in patients with variants in OTOF that includes milder hearing loss, as well as progressive and temperature-sensitive hearing loss. We highlight several challenges that must be addressed for rapid clinical and genetic diagnosis. Importantly, we call for changes in newborn hearing screening protocols, since OAE tests fail to diagnose deafness in this case. Continued research appears to be needed to complete otoferlin isoform expression characterization to enhance genetic diagnostics. This timely review is meant to sensitize the field to clinical characteristics of DFNB9 and current limitations in preparation for clinical trials for OTOF gene therapies that are projected to start in 2021. Full article

Routine application of next-generation sequencing in clinical settings is often limited by time- and cost-prohibitive complex filtering steps. Despite the previously introduced genotyping kit that allows screening of the 11 major recurring variants of sensorineural hearing loss (SNHL) genes in the Korean population, the demand for phenotype- and variant-specific screening kits still remains. Herein, we developed a new real-time PCR-based kit (U-TOP™ HL Genotyping Kit Ver2), comprising six variants from two auditory neuropathy spectrum disorder (ANSD) genes (OTOF and ATP1A3) and five variants from three SNHL genes (MPZL2, COCH, and TMC1), with a distinct auditory phenotype, making this the first genotyping kit dedicated to ANSD. The concordance rate with Sanger sequencing, sensitivity, and specificity of this genotyping kit were all 100%, suggesting reliability. The kit not only allows timely and cost-effective identification of recurring OTOF variants, but it also allows timely detection of cochlear nerve deficiency for those without OTOF variants. Herein, we provide a clinical guideline for an efficient, rapid, and cost-effective etiologic diagnosis of prelingual ANSD. Our study provides a good example of continuing to update new key genetic variants, which will continuously be revealed through NGS, as targets for the newly developed genotyping kit. Full article