OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.

Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene. In this study we characterized the hearing dysfunction in OPA1-linked disorders and provided effective rehabilitative options to improve speech perception. We studied two groups of OPA1 subjects, one comprising 11 patients (7 males; age range 13-79 years) carrying OPA1 mutations inducing haploinsufficiency, the other, 10 subjects (3 males; age range 5-58 years) carrying OPA1 missense mutations. Both groups underwent audiometric assessment with pure tone and speech perception evaluation, and otoacoustic emissions and auditory brainstem response recording. Cochlear potentials were recorded through transtympanic electrocochleography from the group of patients harboring OPA1 missense mutations and were compared to recordings obtained from 20 normally-hearing controls and from 19 subjects with cochlear hearing loss. Eight patients carrying OPA1 missense mutations underwent cochlear implantation. Speech perception measures and electrically-evoked auditory nerve and brainstem responses were obtained after one year of cochlear implant use. Nine out of 11 patients carrying OPA1 mutations inducing haploinsufficiency had normal hearing function. In contrast, all but one subject harboring OPA1 missense mutations displayed impaired speech perception, abnormal brainstem responses and presence of otoacoustic emissions consistent with auditory neuropathy. In electrocochleography recordings, cochlear microphonic had enhanced amplitudes while summating potential showed normal latency and peak amplitude consistent with preservation of both outer and inner hair cell activities. After cancelling the cochlear microphonic, the synchronized neural response seen in both normally-hearing controls and subjects with cochlear hearing loss was replaced by a prolonged, low-amplitude negative potential that decreased in both amplitude and duration during rapid stimulation consistent with neural generation. The use of cochlear implant improved speech perception in all but one patient. Brainstem potentials were recorded in response to electrical stimulation in five subjects out of six, whereas no compound action potential was evoked from the auditory nerve through the cochlear implant. These findings indicate that underlying the hearing impairment in patients carrying OPA1 missense mutations is a disordered synchrony in auditory nerve fiber activity resulting from neural degeneration affecting the terminal dendrites. Cochlear implantation improves speech perception and synchronous activation of auditory pathways by by-passing the site of lesion

Deaf children need language, not (just) speech

Deaf and Hard of Hearing (DHH) children need to master at least one language (spoken or signed) to reach their full potential. Providing access to a natural sign language supports this goal. Despite evidence that natural sign languages are beneficial to DHH children, many researchers and practitioners advise families to focus exclusively on spoken language. We critique the Pediatrics article ‘Early Sign Language Exposure and Cochlear Implants’ (Geers et al., 2017) as an example of research that makes unsupported claims against the inclusion of natural sign languages. We refute claims that (1) there are harmful effects of sign language and (2) that listening and spoken language are necessary for optimal development of deaf children. While practical challenges remain (and are discussed) for providing a sign language-rich environment, research evidence suggests that such challenges are worth tackling in light of natural sign languages providing a host of benefits for DHH children – especially in the prevention and reduction of language deprivation.Accepted manuscrip

Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies

Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders. Methods. The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests. Results. Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0). Conclusions. Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central nervous system anomalies represent a negative prognostic factor that is made worse by the concomitant presence of cochlear malformations. Common cavity and stenosis of the internal auditory canal (less than 2 mm) are negative prognostic factors even if brain lesions are absent

Improvement of Speech Perception for Hearing-Impaired Listeners

Hearing impairment is becoming a prevalent health problem affecting 5% of world adult populations. Hearing aids and cochlear implant already play an essential role in helping patients over decades, but there are still several open problems that prevent them from providing the maximum benefits. Financial and discomfort reasons lead to only one of four patients choose to use hearing aids; Cochlear implant users always have trouble in understanding speech in a noisy environment. In this dissertation, we addressed the hearing aids limitations by proposing a new hearing aid signal processing system named Open-source Self-fitting Hearing Aids System (OS SF hearing aids). The proposed hearing aids system adopted the state-of-art digital signal processing technologies, combined with accurate hearing assessment and machine learning based self-fitting algorithm to further improve the speech perception and comfort for hearing aids users. Informal testing with hearing-impaired listeners showed that the testing results from the proposed system had less than 10 dB (by average) difference when compared with those results obtained from clinical audiometer. In addition, Sixteen-channel filter banks with adaptive differential microphone array provides up to six-dB SNR improvement in the noisy environment. Machine-learning based self-fitting algorithm provides more suitable hearing aids settings. To maximize cochlear implant users’ speech understanding in noise, the sequential (S) and parallel (P) coding strategies were proposed by integrating high-rate desynchronized pulse trains (DPT) in the continuous interleaved sampling (CIS) strategy. Ten participants with severe hearing loss participated in the two rounds cochlear implants testing. The testing results showed CIS-DPT-S strategy significantly improved (11%) the speech perception in background noise, while the CIS-DPT-P strategy had a significant improvement in both quiet (7%) and noisy (9%) environment

Neurocognitive factors in sensory restoration of early deafness: a connectome model

Progress in biomedical technology (cochlear, vestibular, and retinal implants) has led to remarkable success in neurosensory restoration, particularly in the auditory system. However, outcomes vary considerably, even after accounting for comorbidity-for example, after cochlear implantation, some deaf children develop spoken language skills approaching those of their hearing peers, whereas other children fail to do so. Here, we review evidence that auditory deprivation has widespread effects on brain development, affecting the capacity to process information beyond the auditory system. After sensory loss and deafness, the brain's effective connectivity is altered within the auditory system, between sensory systems, and between the auditory system and centres serving higher order neurocognitive functions. As a result, congenital sensory loss could be thought of as a connectome disease, with interindividual variability in the brain's adaptation to sensory loss underpinning much of the observed variation in outcome of cochlear implantation. Different executive functions, sequential processing, and concept formation are at particular risk in deaf children. A battery of clinical tests can allow early identification of neurocognitive risk factors. Intervention strategies that address these impairments with a personalised approach, taking interindividual variations into account, will further improve outcomes

Verbal Learning and Memory After Cochlear Implantation in Postlingually Deaf Adults: Some New Findings with the CVLT-II

OBJECTIVES: Despite the importance of verbal learning and memory in speech and language processing, this domain of cognitive functioning has been virtually ignored in clinical studies of hearing loss and cochlear implants in both adults and children. In this article, we report the results of two studies that used a newly developed visually based version of the California Verbal Learning Test-Second Edition (CVLT-II), a well-known normed neuropsychological measure of verbal learning and memory. DESIGN: The first study established the validity and feasibility of a computer-controlled visual version of the CVLT-II, which eliminates the effects of audibility of spoken stimuli, in groups of young normal-hearing and older normal-hearing (ONH) adults. A second study was then carried out using the visual CVLT-II format with a group of older postlingually deaf experienced cochlear implant (ECI) users (N = 25) and a group of ONH controls (N = 25) who were matched to ECI users for age, socioeconomic status, and nonverbal IQ. In addition to the visual CVLT-II, subjects provided data on demographics, hearing history, nonverbal IQ, reading fluency, vocabulary, and short-term memory span for visually presented digits. ECI participants were also tested for speech recognition in quiet. RESULTS: The ECI and ONH groups did not differ on most measures of verbal learning and memory obtained with the visual CVLT-II, but deficits were identified in ECI participants that were related to recency recall, the buildup of proactive interference, and retrieval-induced forgetting. Within the ECI group, nonverbal fluid IQ, reading fluency, and resistance to the buildup of proactive interference from the CVLT-II consistently predicted better speech recognition outcomes. CONCLUSIONS: Results from this study suggest that several underlying foundational neurocognitive abilities are related to core speech perception outcomes after implantation in older adults. Implications of these findings for explaining individual differences and variability and predicting speech recognition outcomes after implantation are discussed

Advancements in Otology: Hearing Restoration and Cochlear Implant Innovations

Otology has made significant strides in recent years, most notably in the development of cochlear implants and the restoration of hearing. This thorough analysis looks at the most recent advancements in cochlear implant technology, treatment modalities, regenerative medicine, auditory rehabilitation techniques, and future prospects in otology. A variety of therapies are included in the field of audiology rehabilitation, such as digital signal processing in sophisticated hearing aids, assistive listening devices, and transformational cochlear implants. Cochlear implant innovations include improved electrode arrays, signal processing algorithms, and brain interface technologies that greatly increase patients' ability to perceive speech and enjoy music. Stem cell therapy, tissue engineering, and gene editing techniques are promising avenues for rebuilding damaged auditory components in regenerative medicine, which may lead to eventual restoration of hearing. Therapeutic options include gene-based medicines, pharmaceutical interventions that target certain biological pathways, and personalised medication plans that are customised to each patient's unique auditory profile. Emerging technology, multidisciplinary cooperation, a better comprehension of auditory difficulties, and the creation of biocompatible materials for implant technologies are critical to the future of otology. On the other hand, obstacles include the need to translate research into clinical practice, accessibility inequities, and regulatory issues. This review emphasises the need to solve enduring issues in the area of otology while also highlighting the possibility for revolutionary advances in the field