The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees

Lee, Sang Yeon; Shim, Ye Ji; Han, Jin Hee; Song, Jae J.; Koo, Ja Won; Oh, Seung Ha; Lee, Seungmin; Oh, Doo Yi; Choi, Byung Yoon

doi:10.1038/s41598-020-62647-y

Cited by 21 publications

(44 citation statements)

References 45 publications

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“…This further speaks to the necessity of functioning neural circuits in capturing a CI's output. Moreover, another interestingly consistent finding across studies was that currently unknown mutations had significantly worse outcomes than those currently known etiologies (Lee et al, 2020). This implies that those with known mutations are more amenable to cochlear implantation than those without currently identifiable variants.…”

Section: Slc26a4* Pendrinchloride−formate Exchangermentioning

confidence: 74%

Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities

et al. 2020

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The use and utility of cochlear implantation has rapidly increased in recent years as technological advances in the field have expanded both the efficacy and eligible patient population for implantation. This review aims to serve as a general overview of the most common hearing disorders that have favorable auditory outcomes with cochlear implants (CI). Hearing loss in children caused by congenital cytomegalovirus infection, syndromic conditions including Pendred Syndrome, and non-syndromic genetic conditions such as hearing impairment associated with GJB2 mutations have shown to be successfully managed by CI. Furthermore, cochlear implantation provides the auditory rehabilitation for the most common etiology of hearing loss in adults and age-related hearing loss (ARHL) or presbycusis. However, in some cases, cochlear implantation have been associated with some challenges. Regarding implantation in children, studies have shown that sometimes parents seem to have unrealistic expectations regarding the ability of CI to provide auditory rehabilitation and speech improvement. Given the evidence revealing the beneficial effects of early intervention via CI in individuals with hearing disorders especially hearing loss due to genetic etiology, early auditory and genetic screening efforts may yield better clinical outcomes. There is a need to better understand genotype-phenotype correlations and CI outcome, so that effective genetic counseling and successful treatment strategies can be developed at the appropriate time for hearing impaired individuals.

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Section: Slc26a4* Pendrinchloride−formate Exchangermentioning

confidence: 74%

Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities

et al. 2020

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“…Listeners who lost hearing early in life are likely to have different etiologies from those who lost hearing in adulthood. Previous studies have shown that etiology is an important, predictive factor for CI benefit (e.g., Shearer et al 2017; Shearer & Hansen 2019; Lee et al 2020). In addition, Jahn & Arenberg (2020) recently showed that how well the electrical stimulation delivered by individual CI electrodes could activate target AN fibers was different between young CI users who were deafened and implanted during childhood and older CI users who were deafened and implanted as adults.…”

Section: Discussionmentioning

confidence: 99%

Neural Adaptation of the Electrically Stimulated Auditory Nerve Is Not Affected by Advanced Age in Postlingually Deafened, Middle-aged, and Elderly Adult Cochlear Implant Users

Skidmore

Conroy

et al. 2022

Ear &Amp; Hearing

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Objective: This study aimed to investigate the associations between advanced age and the amount and the speed of neural adaptation of the electrically stimulated auditory nerve (AN) in postlingually deafened adult cochlear implant (CI) users.Design: Study participants included 26 postlingually deafened adult CI users, ranging in age between 28.7 and 84.0 years (mean: 63.8 years, SD: 14.4 years) at the time of testing. All study participants used a Cochlear Nucleus device with a full electrode array insertion in the test ear. The stimulus was a 100-ms pulse train with a pulse rate of 500, 900, 1800, or 2400 pulses per second (pps) per channel. The stimulus was presented at the maximum comfortable level measured at 2400 pps with a presentation rate of 2 Hz. Neural adaptation of the AN was evaluated using electrophysiological measures of the electrically evoked compound action potential (eCAP). The amount of neural adaptation was quantified by the adaptation index (AI) within three time windows: around 0 to 8 ms (window 1), 44 to 50 ms (window 2), and 94 to 100 ms (window 3). The speed of neural adaptation was quantified using a two-parameter power law estimation. In 23 participants, four electrodes across the electrode array were tested. In three participants, three electrodes were tested. Results measured at different electrode locations were averaged for each participant at each pulse rate to get an overall representation of neural adaptation properties of the AN across the cochlea. Linear-mixed models (LMMs) were used (1) to evaluate the effects of age at testing and pulse rate on the speed of neural adaptation and (2) to assess the effects of age at testing, pulse rate, and duration of stimulation (i.e., time window) on the amount of neural adaptation in these participants.Results: There was substantial variability in both the amount and the speed of neural adaptation of the AN among study participants. The amount and the speed of neural adaptation increased at higher pulse rates. In addition, larger amounts of adaptation were observed for longer durations of stimulation. There was no significant effect of age on the speed or the amount of neural adaptation. Conclusions:The amount and the speed of neural adaptation of the AN are affected by both the pulse rate and the duration of stimulation, with higher pulse rates and longer durations of stimulation leading to faster and greater neural adaptation. Advanced age does not affect neural adaptation of the AN in postlingually deafened, middle-aged and elderly adult CI users.

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“…The auditory outcome after CI was very good in most patients with DFNA36; a poor outcome was observed only in a patient who underwent CI after 20 years of deafness (online suppl. Table 4) [Makishima et al, 2004;Lee et al, 2020]. A correlation between deafness duration and auditory outcome was suggested; however, good results in speech perception were observed in 2 adult members of a North American Caucasian family with DFNA36 who underwent CI after 2 decade of deafness [Makishima et al, 2004].…”

Section: Discussion/conclusionmentioning

confidence: 99%

Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene

et al. 2020

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Introduction: Non-syndromic hereditary hearing loss is characterized by extreme genetic heterogeneity. So far, more than 100 pathogenic or likely pathogenic variants in TMC1 gene have been reported in patients with autosomal recessive hearing loss (HL) DFNB7/11. The prevailing auditory phenotype of individuals with DFNB7/11 is congenital, profound, bilateral HL, but the functional outcome after cochlear implantation (CI) described in the literature is variable. The objective of this work is to evaluate the auditory outcome after CI in pediatric patients with DFNB7/11, born to non-consanguineous parents. Methods: A retrospective analysis of genetic and audiological data of DFNB7/11 patients followed up in a single Italian otolaryngology clinic was performed. Cases with biallelic pathogenic variants in TMC1 were selected from the cohort of children with non-syndromic hearing loss who had undergone CI and had been molecularly characterized by multigene panel testing. All patients underwent extensive audiological assessment, and the auditory outcome after CI was evaluated. Results: DFNB7/11 was diagnosed in a total of 3 patients from 2 non-consanguineous families; a novel disease-causing variant in TMC1 was detected [c.962G>A p.(Trp321*)]. All the affected children showed the typical DFNB7/11 phenotype characterized by prelingual, severe-to-profound HL. The patients showed an excellent functional outcome after CI; speech perception, nonverbal cognition, and speech performance were comparable to those of patients with DFNB1 deafness. Discussion/Conclusion: Our results do not support the variable auditory outcome reported in the literature, which may be affected by several social and environmental factors and by the genetic background.

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The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees

Cited by 21 publications

References 45 publications

Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities

Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities

Neural Adaptation of the Electrically Stimulated Auditory Nerve Is Not Affected by Advanced Age in Postlingually Deafened, Middle-aged, and Elderly Adult Cochlear Implant Users

Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in <b><i>TMC1</i></b> Gene

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