Cochlear Implantation Outcomes in Patients With OTOF Mutations.
Ontology highlight
ABSTRACT:
SUBMITTER: Zheng D
PROVIDER: S-EPMC7253664 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Cochlear Implantation Outcomes in Patients With <i>OTOF</i> Mutations.
Frontiers in neuroscience 20200521
Auditory neuropathy is a special type of hearing loss caused by dysfunction of the synapse of the inner hair cells, the auditory nerve, and/or the auditory nerve itself. For patients with auditory neuropathy who have severe to profound hearing loss or failed auditory skills development with hearing-aids, cochlear implantation (CI) serves as the only possible effective treatment. It is accepted that the exact sites of lesion causing auditory neuropathy determine the CI performance. Mutations in t ...[more]
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Project description: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. Thus, a focused evaluation of those carrying OTOF variants, which may be the salient molecular etiology of prelingual ANSD, would circumvent the issue of heterogeneity. Here, we sought to provide a much better understanding of the brain perspectives (i.e., P1 maturation) in OTOF-associated ANSD subjects and set the stage for an optimal strategy to enhance language development. We conducted a preliminary study comprising 10 subjects diagnosed with OTOF-related ANSD who underwent CI by a single surgeon and subsequently underwent measurements of the P1 component. We observed that DFNB9 subjects who received CI after 2 years of age exhibited "absent" or "anomalous" P1 components that correspond to delayed language development. However, timely implantation, as early as 12 months of age per se, might be insufficient to achieve age-appropriate cortical maturation of DFNB9 in cases with six to seven months of device use. This suggests the importance of sustained rehabilitation in DFNB9 than in other etiologies. Indeed, an additional follow-up study showed that a reduction in P1 latency was linked to an improvement in auditory performance. Collectively, our results suggest that central auditory maturation and successful outcome of CI in DFNB9 may have more demanding requirements, that is, earlier implantation and more sustained rehabilitation. We believe that the current study opens a new path toward genome-based neuroimaging in the field of hearing research.
| S-EPMC8183996 | biostudies-literature
Project description:Background and Objectives: Many otologists face a dilemma in the decision-making process of surgical management of patients with cochlear nerve (CN) aplasia. The goal of this study is to provide fresh evidence on cochlear implantation (CI) results in patients with CN aplasia. Materials and Methods: We scrutinized functional outcomes in 37 ears of 21 children with bilateral CN aplasia who underwent unilateral or bilateral CI based on cross-sectional and longitudinal assessments. Results: The Categories of Auditory Performance (CAP) scores gradually improved throughout the 3-year follow-up; however, variable outcomes existed between individuals. Specifically, 90% of recipients with a 1-year postoperative CAP score ≤1 could not achieve a CAP score over 1 even at 3-year postoperative evaluation, while the recipients with a 1-year postoperative CAP score >1 had improved auditory performance, and 72.7% of them were able to achieve a CAP score of 4 or higher. Meanwhile, intraoperative electrically evoked compound action potential was not correlated with postoperative CAP score. Conclusions: Our results further refine previous studies on the clinical feasibility of CI as the first treatment modality to elicit favorable auditory performance in children with CN aplasia. However, special attention should be paid to pediatric patients with an early postoperative CAP score ≤1 for identification of unsuccessful cochlear implants and switching to auditory brainstem implants.
| S-EPMC9607978 | biostudies-literature
Project description:OBJECTIVES:This study aimed to provide a descriptive analysis of recent evidence available in the literature in relation to the efficacy of unilateral cochlear implantation in adults, the general findings of these studies, and the populations to which these findings apply. It also aimed to appraise the individual success rate and the magnitude of benefit following implantation. DESIGN:A scoping review was conducted to identify English-language, peer-reviewed journal articles published between 2000 and 2018 assessing the outcomes of cochlear implantation in adults who received their first cochlear implant from 2000 onwards. To be included, studies had to report speech perception or self-reported measures of listening or quality of life at least three months after implantation. Systematic searches were conducted in Medline, Embase, Web of Science and Google Scholar. A two-stage screening approach was used, with seven reviewers independently screening titles and abstracts against inclusion criteria and three from this group further reviewing full-texts. A data charting form was developed and trialled, with 10% of the study data extracted in duplicate to compare results and further refine the form. Data relevant for efficacy analyses were extracted from studies with sample sizes of at least 10 participants. RESULTS:A total of 4182 abstracts were screened against inclusion criteria, and of these, 603 full-texts were further screened. After exclusion of non-eligible articles, 201 articles were included in the first part of this scoping review. The majority of these articles were case series or comparative studies without a concurrent group, and had small sample sizes. Data synthesis conducted with the 102 articles with more than 10 participants highlighted that the average word perception ability improved from 8.2% to 53.9% after implantation. Self-reported benefit improved by 21.5 percentage points. At the individual level, 82.0% of adults with postlingual hearing loss and 53.4% of adults with prelingual hearing loss improved their speech perception ability by 15 percentage points or more. A small proportion had poorer ability after implantation or had stopped using the cochlear implant. CONCLUSIONS:Despite broad inconsistencies in measurement, research design, and reporting across articles, it is evident that cochlear implantation is beneficial to the majority of adults of any age who have limited aided speech perception abilities. While many adults with severe-to-profound hearing loss may also have poor speech perception abilities with hearing aids, the validity of using hearing loss severity as a criterion for cochlear implantation has not been demonstrated. Clinical and research recommendations derived from this review are provided.
| S-EPMC7199932 | biostudies-literature
Project description:ObjectivesTo report the status and outcomes of cochlear implantation in Thailand.DesignCohort study.SettingTertiary care and university hospitals.ParticipantsPatients who underwent cochlear implant surgery in Thailand.InterventionsThis project collected data from all government and university hospitals in Thailand where cochlear implant surgery was performed between 2016 and 2020.Primary and secondary outcome measuresBaseline characteristics, operation data, complications, audiological outcomes and quality of life were reported.ResultsThis study included 458 patients, and nearly half of the patients were children and adolescents (46.94%). The mean age of the patients was 2.96±5.83 years. At 1 year postoperatively, the mean pure tone average of the hearing threshold in the implanted ear significantly improved from unaided preoperative baseline (mean difference (MD) 64.23 dB HL; 95% CI 59.81 to 68.65; p<0.001). The mean speech recognition threshold also improved (MD 55.96 dB HL; 95% CI 49.50 to 62.42, p<0.001). The quality-of-life scores of the EQ-5D-5L, PedsQL and HUI3 questionnaires at 1 year showed improved mobility (range, 0-5; MD 0.65; 95% CI 0.05 to 1.25; p=0.037), hearing (range, 0-6; MD 0.96; 95% CI 0.30 to 1.61; p=0.006) and speech (range, 0-5; MD 0.44; 95% CI 0.04 to 0.84; p=0.031). Common complications included electrode dislodgement (2.18%), vertigo (1.23%) and meningitis (1.93%).ConclusionsExcellent audiological outcomes and improvement in the quality of life in the mobility, hearing and speech domains were observed in patients who underwent cochlear implantation in Thailand.
| S-EPMC8634017 | biostudies-literature
Project description:BackgroundHearing-related quality of life (QoL) after cochlear implantation (CI) is as important as audiological performance. We evaluated the functional results and QoL after CI in a heterogeneous patient cohort with emphasis on patients with long-term deafness (>10 years).MethodsTwenty-eight patients (n = 32 implanted ears, within n = 12 long-term deaf ears) implanted with a mid-scala electrode array were included in this retrospective mono-centric cohort study. Speech intelligibility for monosyllables (SIM), speech reception thresholds (SRT50) and QoL with Nijmegen Cochlear Implant Questionnaire (NCIQ) were registered. Correlation of SIM and QoL was analyzed.ResultsSIM and SRT50 improved significantly 12 months postoperatively up to 54.8 ± 29.1% and 49.3 ± 9.6 dB SPL, respectively. SIM progressively improved up to 1 year, but some early-deafened, late implanted patients developed speech understanding several years after implantation. The global and all subdomain QoL scores increased significantly up to 12 months postoperatively and we found a correlation of SIM and global QoL score at 12 months postoperatively. Several patients of the "poor performer" (SIM < 40%) group reported high improvement of hearing-related QoL.ConclusionsCochlear implantation provides a benefit in hearing-related QoL, even in some patients with low postoperative speech intelligibility results. Consequently, hearing-related QoL scores should be routinely used as outcome measure beside standard speech understanding tests, as well. Further studies with a prospective multi-centric design are needed to identify factors influencing post-implantation functional results and QoL in the patient group of long-term deafness.
| S-EPMC9457208 | biostudies-literature
Project description:ObjectivesIn this study, we aimed to (1) review the long-term outcomes of cochlear implantation in children with cochlear nerve aplasia and (2) compare the development of their auditory and speech abilities to children with normal-sized cochlear nerves.DesignThis is a retrospective case-control study. Patients who underwent unilateral cochlear implant (CI) surgery in a tertiary referral center from September 2012 to December 2018 were reviewed. The study group included 55 children with cochlear nerve aplasia diagnosed using preoperative images. The control group included 35 children with normal-sized cochlear nerves. The control group did not differ from the study group in terms of age at implantation, pre-implantation auditory and speech abilities, or the electrode array type. Cochlear implantation outcomes were assessed using a test battery, including the Categories of Auditory Performance (CAP) score, the Speech Intelligibility Rating (SIR) score, behavioral audiometry, and closed- or open-set speech recognition tests. The development of auditory and speech abilities was compared between the two groups using Generalized Linear Mixed-effect Models.ResultsThe mean duration of CI usage was 4.5 years (SD = 1.5, range = 2.0 to 9.5) in the study group. The CAP scores, SIR scores, and aided hearing thresholds improved significantly post-implantation in the study group, but were significantly poorer than those in the control group. Generalized Linear Mixed-effect Models showed that the development of CAP and SIR scores was significantly slower in the study group than in the control group. Overall, 27 (49%) children with cochlear nerve aplasia had some degree of open-set speech perception skills, but the monosyllabic and bisyllabic word recognition rates were significantly lower than those in the control group.ConclusionFor children with cochlear nerve aplasia, auditory perception and speech intelligibility continued to improve in the long-term follow-up, but this progress was significantly slower than in children with normal-sized cochlear nerves. Most children with cochlear nerve aplasia could obtain the ability of common phrase perception and understanding simple spoken language with consistent CI usage and auditory rehabilitation.
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Project description:To analyse the benefit of cochlear implantation in young deaf children with Waardenburg syndrome (WS) compared to a reference group of young deaf children without additional disabilities.A retrospective study was conducted on children with WS who underwent cochlear implantation at the age of 2 years or younger. The post-operative results for speech perception (phonetically balanced standard Dutch consonant-vocal-consonant word lists) and language comprehension (the Reynell Developmental Language Scales, RDLS), expressed as a language quotient (LQ), were compared between the WS group and the reference group by using multiple linear regression analysis.A total of 14 children were diagnosed with WS, and 6 of them had additional disabilities. The WS children were implanted at a mean age of 1.6 years and the 48 children of the reference group at a mean age of 1.3 years. The WS children had a mean phoneme score of 80% and a mean LQ of 0.74 at 3 years post-implantation, and these results were comparable to those of the reference group. Only the factor additional disabilities had a significant negative influence on auditory perception and language comprehension.Children with WS performed similarly to the reference group in the present study, and these outcomes are in line with the previous literature. Although good counselling about additional disabilities concomitant to the syndrome is relevant, cochlear implantation is a good rehabilitation method for children with WS.
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Project description:ObjectivesTo evaluate the long-term audiometric outcomes, sound localization abilities, binaural benefits, and tinnitus assessment of subjects with cochlear implant (CI) after a diagnosis of unilateral severe-to-profound hearing loss.MethodThe study group consisted of 60 (mean age 52 years, range 19-84) subjects with profound hearing loss in one ear and normal to near-normal hearing in the other ear who underwent CI. Data analysis included pre- and postoperative Consonant-Nucleus-Consonant (CNC) Word scores, AzBio Sentence scores, pure tone thresholds, sound localization, and Iowa Tinnitus Handicap Questionnaire scores.ResultsPreoperative average duration of deafness was 3.69 years (standard deviation 4.31), with an average follow-up time of 37.9 months (range 1-87). CNC and AzBio scores significantly improved (both P < 0.001) postoperatively among the entire cohort, and there was much heterogeneity in outcomes with respect to deafness etiology subgroup analysis. Sound localization abilities tended to improve longitudinally in the entire cohort. Binaural benefits using an adaptive Hearing in Noise Test test showed a significant (P < 0.001) improvement with head shadow effect. Utilizing the Iowa Tinnitus Handicap Questionnaire, there was significant improvement in social, physical, and emotional well-being (P = 0.011), along with hearing abilities (P = 0.001).ConclusionsThis case series is the largest cohort of CI SSD subjects to date and systematically analyzes their functional outcomes. Subjects have meaningful improvement in word understanding, and sound localization tends to gradually improve over time. Binaural benefit analysis showed significant improvement with head shadow effect, which likely provides ease of listening.Level of evidence4 Laryngoscope, 130:1805-1811, 2020.
| S-EPMC8588258 | biostudies-literature
Project description: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.
| S-EPMC8999851 | biostudies-literature
Project description:Genetic factors, the most common etiology in severe to profound hearing loss, are one of the key determinants of Cochlear Implantation (CI) and Electric Acoustic Stimulation (EAS) outcomes. Satisfactory auditory performance after receiving a CI/EAS in patients with certain deafness gene mutations indicates that genetic testing would be helpful in predicting CI/EAS outcomes and deciding treatment choices. However, because of the extreme genetic heterogeneity of deafness, clinical application of genetic information still entails difficulties. Target exon sequencing using massively parallel DNA sequencing is a new powerful strategy to discover rare causative genes in Mendelian disorders such as deafness. We used massive sequencing of the exons of 58 target candidate genes to analyze 8 (4 early-onset, 4 late-onset) Japanese CI/EAS patients, who did not have mutations in commonly found genes including GJB2, SLC26A4, or mitochondrial 1555A>G or 3243A>G mutations. We successfully identified four rare causative mutations in the MYO15A, TECTA, TMPRSS3, and ACTG1 genes in four patients who showed relatively good auditory performance with CI including EAS, suggesting that genetic testing may be able to predict the performance after implantation.
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