Cochlear Implantation Outcomes in Children With CDH23 Mutations–Associated Hearing Loss

2021 ◽  
pp. 019459982110574
Author(s):  
Kaitian Chen ◽  
Bixue Huang ◽  
Jincangjian Sun ◽  
Yue Liang ◽  
Guanxia Xiong
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Outer Hair Cell ◽  
Cell Function ◽  
Hearing Level ◽  
Case Review ◽  
Retrospective Case ◽  
Profound Hearing Loss ◽  
Tertiary Referral Center ◽  
Cadherin 23

Objective Mutations in the cadherin 23 gene ( CDH23) have been reported to cause cochlear damage, but few studies have investigated the auditory and speech outcome of patients after cochlear implantation. Here, we describe the genetic, auditory, and postoperative outcomes of patients with CDH23 mutations who received cochlear implants. Study Design Retrospective case review. Setting Tertiary referral center. Methods Targeted deafness-related gene panels were sequenced in Chinese families with profound sensorineural hearing loss. The clinical features of subjects carrying potentially pathogenic CDH23 mutations were analyzed. Results Between 2017 and 2019, we identified 5 children with prelinguistically profound hearing loss at our center who harbored 6 variants of CDH23 that segregated with the disease. Of these, 4 variants were novel (c.2591G>T, c.4785G>C, c.5765A>G, and c.9280_9281insTT). All affected individuals had a loss of outer hair cell function, with an average residual hearing level of 3 to 10 dB SPL. Cochlear implantations were arranged for the patients at 11 to 36 months of age. All children made gains in their hearing, language, and speech performances 14 to 120 months after surgery. Their auditory outcomes improved during follow-up intervals. Conclusion This study revealed that children with congenital cochlear defects caused by CDH23 variants can acquire an acceptable auditory and speech outcome after cochlear implantation. Early genetic detection and prenatal counseling for rare deafness genes such as CDH23 remain a priority for the future.

scholarly journals Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

2021 ◽  
Author(s):  
Yoh-ichiro Iwasa ◽  
Shin-ya Nishio ◽  
Hidekane Yoishimura ◽  
Akiko Sugaya ◽  
Yuko Kataoka ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Clinical Characteristics ◽  
Clinical Information ◽  
Auditory Neuropathy ◽  
Hearing Level ◽  
Phenotype Correlation ◽  
Profound Hearing Loss ◽  
Genotype Phenotype Correlation ◽  
Auditory Performance

AbstractMutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype–phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype–phenotype correlation. Detailed clinical information was available for 64 patients in our database who were diagnosed with OTOF-related hearing loss. As reported previously, most of the patients (90.6%) showed a “typical” phenotype; prelingual and severe-to-profound hearing loss. Forty-seven patients (73.4%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85–90% of the patients showed a hearing level of 20–39 dB with cochlear implant and a Categories of Auditory Performance (CAP) scale level 6 or better. Although truncating mutations and p.Arg1939Gln were clearly related to severe phenotype, almost half of the patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.His513Arg, p.Ile1573Thr and p.Glu1910Lys showed “true” auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype–phenotype correlation and efficacy of cochlear implantation for OTOF-related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype–phenotype correlation found in this study will support preoperative counseling and appropriate intervention for OTOF-related hearing loss patients.

Metachronous Sudden Sensorineural Hearing Loss: Patient Characteristics and Treatment Outcomes

2020 ◽  
Vol 162 (3) ◽  
pp. 337-342
Author(s):  
Timothy Cooper ◽  
Ronak Dixit ◽  
Candace E. Hobson ◽  
Barry E. Hirsch ◽  
Andrew A. McCall
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implantation ◽  
Case Series ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Retrospective Case ◽  
Rare Presentation ◽  
Profound Hearing Loss ◽  
The Mean

Objectives Idiopathic sudden sensorineural hearing loss (ISSNHL) is a distressing condition that can significantly affect quality of life. Unilateral ISSNHL, occurring first in 1 ear and then the contralateral ear at a separate and discrete time, is a rare presentation that we refer to as metachronous ISSNHL. Our objective was to characterize the presentation of metachronous ISSNHL and report on management and hearing outcomes. Study Design Retrospective case series. Setting Otology clinic at an academic tertiary referral center. Subjects and Methods Patients ≥18 years old presenting with metachronous ISSNHL between April 2008 to November 2017 were identified through review of the clinic electronic medical record. Metachronous ISSNHL was defined as unilateral ISSNHL occurring in temporally discrete episodes (>6 months apart) affecting both ears. Patients with identifiable causes for sudden hearing loss were excluded. Patient demographics, comorbidities, management, and audiologic outcomes were recorded. Results Eleven patients with metachronous ISSNHL were identified out of 558 patients with ISSNHL. In patients with metachronous ISSNHL, the mean ± standard deviation age at the time of ISSNHL in the second ear was 58.6 ± 15.2 years (range, 31-77 years). The mean interval between episodes was 9.6 ± 7.5 years (range, 1-22 years). Patients were treated with systemic and intratympanic steroids with variable hearing recovery; 5 patients with resultant bilateral severe to profound hearing loss underwent successful cochlear implantation. Conclusion Metachronous ISSNHL is uncommon. Treatment is similar to ISSNHL, and cochlear implantation can successfully restore hearing in individuals who do not experience recovery.

Detailed Clinical Features and Genotype-Phenotype Correlation in an OTOF-Related Hearing Loss Cohort in Japan

2021 ◽  
Author(s):  
Yoh-ichiro Iwasa ◽  
Shin-ya Nishio ◽  
Hidekane Yoishimura ◽  
Akiko Sugaya ◽  
Yuko Kataoka ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Clinical Characteristics ◽  
Clinical Information ◽  
Auditory Neuropathy ◽  
Hearing Level ◽  
Phenotype Correlation ◽  
Profound Hearing Loss ◽  
Genotype Phenotype Correlation ◽  
Auditory Performance

Abstract OTOF is one of the most frequent causes of hereditary hearing loss and a main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype correlation in the patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype-phenotype correlation. Detailed clinical information was available for 65 patients in our database who were diagnosed with OTOF-related hearing loss. As reported previously, most of the patients (90.8%) showed a “typical” phenotype, prelingual and severe-to-profound hearing loss. Forty-seven patients (72.3%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85-90% of the patients showed a hearing level of 20-39dB with cochlear implant and a CAP scale (Categories of Auditory Performance) level 6 or better. Although truncating mutations and p.R1939Q were clearly related to severe phenotype, almost half of patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.H513R, p.I1573T and p.E1910K showed “true” auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype-phenotype correlation and efficacy of cochlear implantation for OTOF-related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype-phenotype correlation found in this study will support preoperative counseling and appropriate intervention for OTOF-related hearing loss patients.

Cochlear Implant Outcomes in Patients with Neurosarcoidosis

2021 ◽  
pp. 1-7
Author(s):  
Dario Ebode ◽  
Fleur Cohen-Aubart ◽  
Stéphanie Trunet ◽  
Evelyne Ferrary ◽  
Ghizlène Lahlou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Case Series ◽  
Corticosteroid Treatment ◽  
Auditory Neuropathy ◽  
Disease Exacerbation ◽  
Profound Hearing Loss ◽  
Hearing Recovery ◽  
Speech Performance

<b><i>Introduction:</i></b> Audiovestibular symptoms are rare in sarcoidosis, but they may also be the first manifestation of the disease. Sudden or progressive bilateral hearing loss is usually associated with vestibular impairment. The mechanism of hearing loss remains unclear, but clinical presentation and magnetic resonance imaging suggest a retrocochlear site for the lesion in most patients. Several cases of hearing recovery after corticosteroid treatment have been reported. In patients with severe or profound hearing loss, the benefit of cochlear implantation is challenging to predict in the case of auditory neuropathy and is rarely described. We present a case series of cochlear implantation in patients with documented neurosarcoidosis. <b><i>Results:</i></b> Seven cases of cochlear implantation in 4 patients with neurosarcoidosis are reported. All of the patients showed a great improvement very quickly in both quiet and noise. Speech performance remained stable over time with a follow-up ranging from 4 to 11 years, even in patients who had disease exacerbation. <b><i>Conclusion:</i></b> Cochlear implantation is possible in deaf patients with neurosarcoidosis. The excellent benefit obtained in our patients suggests a particular type of neuropathy, but endocochlear involvement cannot be entirely ruled out.

Cochlear Implant Patients with Superficial Siderosis

2009 ◽  
Vol 20 (06) ◽  
pp. 348-352 ◽  
Author(s):  
Sarah A. Sydlowski ◽  
Michael J. Cevette ◽  
Jon Shallop ◽  
David M. Barrs
Keyword(s):  
Central Nervous System ◽  
Hearing Loss ◽  
Cochlear Implant ◽  
Cochlear Implantation ◽  
Case Reports ◽  
Superficial Siderosis ◽  
Viable Option ◽  
Retrospective Case ◽  
Fatal Disease ◽  
The Central Nervous System

Background: Considered a rare disorder, superficial siderosis of the central nervous system (SSCN) has become more frequently diagnosed in recent years. As it is characterized by progressive sensorineural hearing loss, patients' needs may surpass the capability of hearing aid technology. Despite the retrocochlear nature of the disorder, patients have undergone cochlear implantation (CI) with varying success. Purpose: To summarize the issues surrounding cochlear implant candidates with SSCN as well as highlight trends in performance postimplantation. Research Design: Retrospective case reports of seven cochlear implant candidates detail the symptoms, typical audiologic presentation, and array of clinical issues for patients with this progressive and potentially fatal disease. Results: Despite the retrocochlear component of a hearing loss caused by SSCN, cochlear implantation may be a viable option. Conclusions: It is essential that the CI audiologist not only be aware of the disorder but also be well versed in the resulting implications for the cochlear implant process. A more thorough case history, an expanded candidacy test battery, and knowledge of the typical presentation of SSCN are critical. The diagnosis of SSCN will impact expectations for success with the cochlear implant, and counseling should be adjusted accordingly.

Cochlear Implantation in Children with Postlingual Progressive Steeply Sloping High-Frequency Hearing Loss

2017 ◽  
Vol 28 (10) ◽  
pp. 913-919 ◽  
Author(s):  
Margaret A. Meredith ◽  
Jay T. Rubinstein ◽  
Kathleen C. Y. Sie ◽  
Susan J. Norton
Keyword(s):  
Hearing Loss ◽  
Speech Perception ◽  
Hearing Aids ◽  
Cochlear Implantation ◽  
High Frequency ◽  
Case Series ◽  
Hearing Preservation ◽  
Rapid Improvement ◽  
Retrospective Case ◽  
Monosyllabic Word

Background: Children with steeply sloping sensorineural hearing loss (SNHL) lack access to critical high-frequency cues despite the use of advanced hearing aid technology. In addition, their auditory-only aided speech perception abilities often meet Food and Drug Administration criteria for cochlear implantation. Purpose: The objective of this study was to describe hearing preservation and speech perception outcomes in a group of young children with steeply sloping SNHL who received a cochlear implant (CI). Research Design: Retrospective case series. Study Sample: Eight children with steeply sloping postlingual progressive SNHL who received a unilateral traditional CI at Seattle Children’s Hospital between 2009 and 2013 and had follow-up data available up to 24 mo postimplant were included. Data Collection and Analysis: A retrospective chart review was completed. Medical records were reviewed for demographic information, preoperative and postoperative behavioral hearing thresholds, and speech perception scores. Paired t tests were used to analyze speech perception data. Hearing preservation results are reported. Results: Rapid improvement of speech perception scores was observed within the first month postimplant for all participants. Mean monosyllabic word scores were 76% and mean phoneme scores were 86.7% at 1-mo postactivation compared to mean preimplant scores of 19.5% and 31.0%, respectively. Hearing preservation was observed in five participants out to 24-mo postactivation. Two participants lost hearing in both the implanted and unimplanted ear, and received a sequential bilateral CI in the other ear after progression of the hearing loss. One participant had a total loss of hearing in only the implanted ear. Results reported in this article are from the ear implanted first. Bilateral outcomes are not reported. Conclusions: CIs provided benefit for children with steeply sloping bilateral hearing loss for whom hearing aids did not provide adequate auditory access. In our cohort, significant improvements in speech understanding occurred rapidly postactivation. Preservation of residual hearing in children with a traditional CI electrode is possible.

Delayed Cochlear Implantation in Adults With Prelingual Severe-to-Profound Hearing Loss

2011 ◽  
Vol 32 (2) ◽  
pp. 223-228 ◽  
Author(s):  
Won Sun Yang ◽  
In Seok Moon ◽  
Hee Nam Kim ◽  
Won-Sang Lee ◽  
Sung Eun Lee ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Profound Hearing Loss

Outcome of Cochlear Implantation in Postmeningitis Profound Sensorineural Hearing Loss at Rajavithi Hospital

2021 ◽  
Vol 104 (2) ◽  
pp. 260-263
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implantation ◽  
Sensorineural Hearing ◽  
Preoperative Imaging ◽  
Profound Hearing Loss ◽  
Language Status ◽  
Auditory Performance ◽  
Electrode Insertion ◽  
One Year

Background: Bacterial meningitis is one of the major factors in the etiology of acquired sensorineural hearing loss in children and adults. Cochlear implantation in these patients is challenging because of inner ear ossification and fibrosis, and this procedure sometimes achieves poorer outcomes in this scenario than with other causes of sensorineural hearing loss. There has been little research into the factors affecting the outcomes of this procedure. Objective: To evaluate the outcomes of cochlear implantation in patients with postmeningitis profound sensorineural hearing loss and to evaluate the factors that affect the results. Materials and Methods: A retrospective review was conducted of thirty patients who were diagnosed with post meningitis profound hearing loss and underwent cochlear implantation at Rajavithi Hospital between 2001 and 2016. Preoperative language status, duration of deafness, preoperative imaging, and degree of electrode insertion were recorded. Categories of auditory performance-II test (CAP-II) was evaluated in all cases, one year postoperative. Results: Thirty postmeningitis deafness patients underwent cochlear implantation. The median age at diagnosis of meningitis and age at implantation were 41 years (range 1 to 75) and 49.50 years (range 3 to 75), respectively. The median duration of deafness was 12 months (range 4 to 300), and the overall mean CAP-II at one year after surgery was 5.47±2.21. The postlinguistic group had a significantly higher CAP-II score than the prelinguistic one (p=0.006). Electrodes were successfully totally inserted in 19 patients (63.3%) and partially inserted in 11 (36.7%). The average CAP-II score in the group with fully-inserted electrodes was significantly higher than in the group with partially-inserted electrodes (p=0.045). There was no correlation between CAP-II score and age at meningitis diagnosis (p=0.069), age at time of surgery (p=0.105), duration of deafness (p=0.506), or preoperative CT (p=0.228) or MRI abnormality (p=0.078). Conclusion: Cochlear implantation in patients with postmeningitis profound hearing loss had high success rates and favorable outcomes. Preoperative language status and degree of electrode insertion were factors that affected auditory performance results. Keywords: Cochlear implantation, Postmeningitis hearing loss, Sensorineural hearing loss, Meningitis, Rajavithi Hospital

Cochlear implantation in chronic otitis media

2004 ◽  
Vol 118 (1) ◽  
pp. 3-7 ◽  
Author(s):  
A. Incesulu ◽  
S. Kocaturk ◽  
M. Vural
Keyword(s):  
Hearing Loss ◽  
Otitis Media ◽  
Cochlear Implantation ◽  
Surgical Procedure ◽  
Disease Process ◽  
Chronic Otitis Media ◽  
Profound Hearing Loss ◽  
Potential Risks ◽  
Radical Cavity

Patients with chronic otitis media (COM) may have profound sensorineural hearing loss either due to the disease process or secondary to a surgical procedure. Some patients who are candidates for cochlear implantation may have COM coincidentally. The patients in this group need special attention when cochlear implantation is applied. The aim of this study is to evaluate the potential risks and complications in patients with COM.Cochlear implantation was performed in six patients with COM or an infected radical cavity and profound hearing loss. Five of them underwent a two-stage operation, and one had a single-stage operation. Cochlear implantation was performed in all patients without complications. The follow-up period was uneventful.Although such patients have some potential risks, when certain surgical rules are followed very strictly cochlear implantation can be successfully performed in patients with COM.

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