Remote Check as a tele-health instrument for cochlear implant recipients: Analysis of impact and feasibility of application.

PURPOSE: The number of cochlear implant (CI) surgeries is growing over time, with the risk of overloading CI centers in the post-surgical management. Telemedicine is a possible solution to address this phenomenon. Remote Check (RC) is an application that is specific for CI recipients monitoring. The aim of this study is to evaluate the feasibility of application, potential economic impact and patients' acceptance of RC. METHODS: The study is retrospective investigation, data on clinical, audiological features (from remote and on-site evaluation), and satisfaction surveys of 66 consecutive patients were collected; costs required for RC and for on-site evaluations were recorded as well. RESULTS: One hundred and ninety RC sessions were completed by the patients (2.88 sessions per patient). RC and on-site audiometry significantly correlated except for the 500 Hz frequency. Estimated costs for the Italian National Health System for RC review and on-site evaluations were 1.32€ and 3.49€ per minute, respectively. High satisfaction for RC was reached in 91 % of patients. CONCLUSION: RC revealed to be a reliable, cost-effective and well accepted tool in CI monitoring. This study preliminarily supports the hypothesis that RC could be a valid instrument to reduce CI management overload in the outpatient clinic.

Bilateral simultaneous cochlear implants in children: Best timing of surgery and long-term auditory outcomes.

PURPOSE: Evaluate the hearing outcomes of bilateral deaf children implanted simultaneously and define the most appropriate timing for surgery. MATERIALS AND METHODS: Audiological CI results were retrieved in both the short-term and long-term period and compared by stratifying the patients into different subcohorts according to their age at surgery. Additional data collected were age at implant activation, etiology and timing of onset of deafness, presence of psychomotor delay. RESULTS: fifty-six bilaterally implanted children were included. The short-term outcomes differed significantly when comparing groups of different ages at implantation: younger patients achieved better aided pure tone audiometry results. Considering long-term follow-up, a significant correlation was identified between an early age at implantation and the hearing outcome at ages 2 to 5 years. Perceptive levels were better at 4 years of age in the younger group. No significant differences were found between children implanted at before 12 months and between 12 and 16 months of age. CONCLUSIONS: The results of the analyzed follow-up data support the hypothesis that children implanted at before 24 months are expected to have better hearing performances. Nevertheless, these results are referred to a widely heterogeneous group of patients and the duration of auditory deprivation should be considered.

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

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.

How great is the negative impact of masking and social distancing and how can we enhance communication skills in the elderly people?

During COVID-19 pandemic, protective measures such as social distancing and face masks posed a challenge in daily communication, in this context the elderly are one of the most at risk categories as widely exposed to hearing loss. This article focuses on how the COVID-19 pandemic affected verbal communication, especially on those people that even in normal conditions present an increased difficulty in speech perception. Special attention has been paid to hearing aids and cochlear implant users, these devices indeed can be affected by a speech intelligibility reduction and could be uncomfortable if used together with face masks. Possible alternatives and solutions will be proposed to reduce the negative impacts of face coverings on communication, to enhance speech intelligibility and to manage wearability of hearing rehabilitation devices.

Cochlear implantation in adults with auditory deprivation: What do we know about it?

INTRODUCTION: In the ENT community, auditory deprivation is frequently considered as a negative prognostic factor for a good hearing outcome of cochlear implantation (CI), even if a growing literature suggests that this is not completely true. The purpose of this study is to evaluate the results of CI in patients with hearing deprivation, to compare them to results from non-deprived patients and then estimate how time of deprivation impacts on CI outcome and how a bilateral deprivation can affect the outcome compared to a unilateral deprivation. METHODS: Seventy-eight adults with severe to profound post-verbal hearing loss, with and without auditory deprivation history, received CI; audiological results obtained at 3-6-12-24 months follow up post CI were analyzed. RESULTS: No differences were founded between patients with unilateral deprivation and patients with no deprivation. Patients with bilateral deprivation seem to have a worse hearing outcome compared to that of those patients with unilateral deprivation or no deprivation at all. Long time deprivation (>15 years) seems to have a negative influence on the hearing outcome but results with CI remain excellent. CONCLUSIONS: Auditory deprivation should not be considered a contraindication to CI. The duration of auditory deprivation in the implanted ear seems to be a negative prognostic factor only for ears deprived from more of 15 years.

Cochlear implant outcomes in the elderly: a uni- and multivariate analyses of prognostic factors.

PURPOSE: To assess preoperative features that could predict the audiological outcome after cochlear implantation in the elderly, in terms of pure tone audiometry, speech audiometry, and speech perception performance. METHODS: All available records of patients with cochlear implants aged 65 or more at the time of their implantation at our Institution were reviewed (50 patients, mean age 70.76 ± 4.03 years), recording preoperative clinical features. Pure tone audiometry, speech audiometry, and speech perception performance 1 year after cochlear implant activation and fitting were used as outcome measures. RESULTS: No statistically significant association emerged between clinical features and pure tone audiometry. On univariate analysis, progressive sensorineural hearing loss of unknown origin was associated with a better outcome in terms of speech audiometry and speech perception performance (p = 0.035 and p = 0.033, respectively). On multivariate analysis, progressive sensorineural hearing loss retained its independent prognostic significance in terms of speech perception performance (p = 0.042). The discriminatory power of a two-variable panel (age and etiology of hearing loss) featured an AUC (ROC) of 0.738 (an acceptable discriminatory power according to the Hosmer-Lemeshow scale). CONCLUSIONS: A progressive sensorineural hearing loss of unknown origin was associated with a better outcome in terms of speech perception in the elderly in our case study. Further features that can predict audiological outcome achievable with cochlear implants in the elderly are desirable to perform adequate counselling and rehabilitation programs.

Salivary glands abnormalities in oculo-auriculo-vertebral spectrum.

BACKGROUND: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls. RESULTS: All controls disclosed normal salivary glands. Abnormal parotid glands were found exclusively ipsilateral to facial microsomia in 21/25 OAVS patients (84%, aplasia in six patients) and showed no association with phenotype severity (14/16 patients with Goldenhar phenotype vs 7/9 patients with milder phenotype, p = 0.6). Submandibular salivary gland hypoplasia was detected in six OAVS patients, all with concomitant ipsilateral severe involvement of the parotid gland (p < 0.001). Submandibular salivary gland hypoplasia was associated to Goldenhar phenotype (p < 0.05). Parotid gland abnormalities were associated with ipsilateral fifth (p < 0.001) and seventh cranial nerve (p = 0.001) abnormalities. No association was found between parotid gland anomaly and ipsilateral internal carotid artery, inner ear, brain, eye, or spine abnormalities (p > 0.6). CONCLUSIONS: Salivary gland abnormalities are strikingly common in OAVS. Their detection might help the management of OAVS-associated swallowing and feeding impairment.

Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?

The etiology of sensorineural hearing loss is heavily influenced by genetic mutations, with approximately 80% of cases attributed to genetic causes and only 20% to environmental factors. Over 100 non-syndromic deafness genes have been identified in humans thus far. In non-syndromic sensorineural hearing impairment, around 75-85% of cases follow an autosomal recessive inheritance pattern. In recent years, groundbreaking advancements in molecular gene therapy for inner-ear disorders have shown promising results. Experimental studies have demonstrated improvements in hearing following a single local injection of adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. These pioneering approaches have opened new possibilities for potential therapeutic interventions. Following the PRISMA criteria, we summarized the AAV gene therapy experiments showing hearing improvement in the preclinical phases of development in different animal models of DFNB deafness and the AAV gene therapy programs currently in clinical phases targeting autosomal recessive non syndromic hearing loss. A total of 17 preclinical studies and 3 clinical studies were found and listed. Despite the hurdles, there have been significant breakthroughs in the path of HL gene therapy, holding great potential for providing patients with novel and effective treatment.

Intraoperative Measurement of Insertion Speed in Cochlear Implant Surgery: A Preliminary Experience with Cochlear SmartNav.

OBJECTIVES: The objectives were to present the real-time estimated values of cochlear implant (CI) electrode insertion speed (IS) during intraoperative sessions using the Cochlear Nucleus SmartNav System to assess whether this measure affected CI outcomes and to determine whether real-time feedback assists expert surgeons in achieving slow insertion. METHODS: The IS was measured in 52 consecutive patients (65 implanted ears) using the CI632 electrode. The IS values were analyzed in relation to procedure repetition over time, NRT ratio, and CI audiological outcomes. RESULTS: The average IS was 0.64 mm/s (SD = 0.24); minimum and maximum values were 0.23 and 1.24 mm/s, respectively. The IS significantly decreased with each array insertion by the operator (p = 0.006), and the mean decreased by 24% between the first and last third of procedures; however, this reduction fell within the error range of SmartNav for IS (+/-0.48 mm/s). No correlation was found between IS and the NRT ratio (p = 0.51), pure-tone audiometry (PTA) at CI activation (p = 0.506), and PTA (p = 0.94) or word recognition score (p = 0.231) at last evaluation. CONCLUSIONS: The estimated IS reported by SmartNav did not result in a clinically significant reduction in insertion speed or an improvement in CI hearing outcomes. Real-time feedback of IS could potentially be used for training, but its effectiveness requires confirmation through additional studies and more accurate tools. Implementation of IS assessment in clinical practice will enable comparisons between measurement techniques and between manual and robot-assisted insertions. This will help define the optimal IS range to achieve better cochlear implant (CI) outcomes.

Improving Auditory Perception in Pediatric Single-Sided Deafness: Use of Cochlear Implants' Direct Connection for Remote Speech Perception Rehabilitation.

PURPOSE: Unilateral cochlear implants (CIs) can restore binaural hearing in single-sided deafness (SSD). Direct stimulation of the CI can be obtained via the Bluetooth connection of a device to the CI, thus excluding the typical-hearing ear. This study aims to investigate the use of CI connectivity features as a rehabilitative strategy in a small cohort of children affected by SSD. METHOD: A newly developed training protocol was presented to children with SSD who have less than 2 years of experience with CI. We developed a user-friendly and short-term (six sessions within 20 days) training protocol for speech perception that patients themselves can manage independently at home using CI connectivity systems. Children were telematically tested before and after the training by trained speech and language therapists. RESULTS: Four patients met the inclusion criteria. They all showed better results in the final online assessment, when compared with the initial one. CONCLUSIONS: To our knowledge, this is the first clinical focus article presenting an auditory training protocol for SSD patients with CI using the Bluetooth connectivity systems for teletherapy. The results, although preliminary, support the efficacy of this rehabilitative strategy. Further research is needed to support our findings.

Vestibular anomalies and dysfunctions in children with inner ear malformations: A narrative review.

About 20% of children with congenital hearing loss present malformations of the inner ear. In the past few years much has been understood about the morphology and function of the anterior part of the labyrinth, since hearing loss may have a dramatic effect on the overall development of a child. Nowadays, for most of them, a chance for hearing rehabilitation is available, making hearing loss a treatable condition. The anomalies range from the lack of development of the whole inner ear to specific anomalies of isolated structures. Despite the frequent concomitant involvement of the posterior part of the labyrinth, this part of the inner ear is frequently neglected while discussing its morphology and dysfunction. Even though vestibular and balance function/dysfunction may have a significant impact on the global development of children, very little is known about these specific disorders in patients with inner ear malformations. The aim of this review is to summarize the available literature about vestibular anomalies and dysfunctions in children with inner ear malformations, discussing what is currently known about the topic.

Hearing Aid in Vestibular-Schwannoma-Related Hearing Loss: A Review.

(1) Background: Several types of hearing aids are available for the rehabilitation of vestibular-schwannoma (VS)-related hearing loss. There is a lack of recently published papers regarding this theme. The aim of the present work is to organize current knowledge. (2) Methods: A review of the literature regarding the topics "vestibular schwannoma", "hearing loss", and "hearing aid" was performed. Nineteen studies were thus considered. (3) Results: Conventional hearing aids, contralateral routing of signal (CROS) aids, bone anchored hearing aids (BAHA), and others are available options for hearing rehabilitation in VS patients. The speech discrimination score (SDS) is considered the best measure to assess candidacy for rehabilitation with hearing aids. The best hearing rehabilitative conditions in VS patients when using conventional hearing aid devices are a mild-moderate hearing loss degree with good word recognition (more than 50% SDS). CROS-Aid and BAHA are reported to be beneficial. CROS-Aid expands on the area of receiving hearing. BAHA aids use direct bone-conduction stimulation. Unfortunately, there are no available studies focused specifically on VS patients that compare CROS and BAHA technologies. (4) Conclusions: Hearing aids, CROS, and BAHA are viable options for rehabilitating hearing impairment in VS, but require an accurate case-by-case audiological evaluation for rehabilitating hearing impairment in VS. Further studies are needed to prove if what is currently known about similar hearing illnesses can be confirmed, particularly in the case of VS.

Benefits of bone conduction hearing aid in children with unilateral aural atresia.

Objective: To assess the hearing benefit with a unilateral bone conduction hearing aid in a cohort of children with unilateral aural atresia. Methods: Cross-sectional case series pilot study involving 7 children (median age: 10 years, range 6-11). All patients underwent pure-tone, speech, aided sound field and aided speech audiometry and Simplified Italian Matrix Test (SIMT) with and without bone conduction hearing aid (Baha 5® CochlearTM). Cognitive abilities were assessed in 5 patients. Results: The mean air conduction pure-tone average (PTA) of the atretic ear was 63.2 ± 6.9 dB, while the bone conduction PTA was 12.6 ± 4.7 dB. Speech discrimination score of the atretic ear was 88.6 ± 3.8 dB, while with the hearing aid it was 52.8 ± 1.9 dB. In the contralateral ear, there was no significant air-bone gap, and PTAs for air and bone conduction thresholds were within normal range (PTA ≤ 25 dB). The mean aided air conduction hearing threshold was 26.2 ± 7.97. Mean speech recognition threshold without the hearing aid was -5.1 ± 1.9 dB, and -6.0 ± 1.7 dB with the hearing aid tested with the SIMT. The mean score of the cognitive test was 46.8 ± 42.8. Conclusions: These preliminary findings should encourage clinicians in proposing a unilateral bone conduction hearing aid in children with unilateral atresia.

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.

The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc [...].

Evaluating benefits of cochlear implantation in deaf children with additional disabilities.

OBJECTIVES: Cochlear-implanted deaf children having additional disabilities may develop speech perception and language skills at a slower pace than their implanted peers without such disorders. Nevertheless, it has been shown that, even for these special cases, cochlear implantation (CI) provides benefits for a larger range of neuropsychological functions including social and relational skills. These benefits are frequently mentioned by parents, but rarely objectively measured by tests. This article presents a new evaluation tool aimed at assessing the global benefits offered by CI in these special cases. DESIGN: The new tool has been designed as a closed-format questionnaire, divided into five areas. It is based on observing the frequency of preselected behaviors in daily activities, which imply specific social, neuropsychological, and perceptual skills. The questionnaire has been presented to the parents of 50 deaf children with additional disabilities, before and at least 6 months after CI. RESULTS: The data show significant improvements in all investigated areas. However, not all skills improve in the same way, and only those skills related to language and communication correlate positively with time after implantation. The present article further discusses changes in skills for which parents have higher expectations, such as the preferred communication mode, speech intelligibility, and the ability to communicate on the telephone. CONCLUSIONS: The questionnaire has a simple-to-use format, and it has been proven to be sufficiently sensitive for the detection of changes in each examined area. Because the questionnaire is based on observed behaviors, it can be used even when other existing tests involve tasks that are too complex for these children.

Pediatric Hearing Loss Management in the COVID-19 Era: Possible Consequences and Resources for the Next Future.

Pediatric hearing loss early diagnosis and treatment have been limited by the current restrictions due to the coronavirus disease 2019 pandemic. The difficulty in accessing the multiple facilities required for the rehabilitative process is influencing the timing of each step of the process. Auditory hearing screening programs, etiological characterization, surgical timing, and speech therapies have all been limited in the past year. The current conditions have forced us to adopt different strategies to overcome the necessary social distancing prescriptions. Although their efficacy should be proved over time, some of these resources will be probably useful even in a nonpandemic future.

Long-Term Impedance Trend in Cochlear Implant Users with Genetically Determined Congenital Profound Hearing Loss.

BACKGROUND: Impedance is a basic parameter registered at any cochlear implant (CI) fitting section. It is useful in monitoring electrode functioning and the status of the surrounding anatomical structures. PURPOSE: The main aim of this study is to evaluate the 5-year impedance-value trend in patients affected by congenital genetically determined profound hearing loss implanted with Cochlear Nucleus devices. RESEARCH DESIGN: Observational, retrospective, monocentric study. STUDY SAMPLE: Twenty-seven consecutive patients (9 females: 12.0 ± 7.6 years old; range: 4.2-40.4) with genetic diagnosis of GJB2 mutation causing congenital profound hearing loss who underwent cochlear implantation from 2010 to 2020 with good auditory benefit. INTERVENTION: Impedance values of the CIs were obtained from the CIs' programming software that registers those parameters for each follow-up section of each patient. DATA COLLECTION AND ANALYSIS: Impedance values were measured over time (activation, 6, 12, 24, and 60 months after cochlear implantation), for each of the 22 electrodes, in common ground, monopolar 1, monopolar 2, and monopolar 1 + 2 stimulation modes. RESULTS: A significant variation was found between CI activation and 6-month follow-up. This difference was found for each of the 22 electrodes. Electrodes 1 to 4 showed higher impedance values compared with all other electrodes in each time interval. Repeated-measures analysis of variance ruled out significant variations in impedance values from 6-month to 5-year follow-up. CONCLUSIONS: Impedance values were extremely stable after activation, at least for the first 5 years. In these cases, even minimal impedance variations should be carefully evaluated for their possible implications on hearing performance.

Bulging of the Oval Window in Common Cavity Deformity: A Possible Predictor of Meningitis.

OBJECTIVE: To investigate the prevalence-rate of oval window bulging in the common cavity and its association with bacterial meningitis. PATIENTS: CT and clinical files of 29 children with preliminary diagnosis of common cavity deformity were collected from 13 Italian centers. INTERVENTION: A retrospective case review study was conducted with a centralized evaluation of the temporal bone CT imaging was performed at Azienda Ospedale - Università Padova, Padova, Italy. MAIN OUTCOME MEASURE: Diagnosis of common cavity was reviewed; in addition, a fluid protrusion into the middle-ear cavity through the oval window at CT imaging was considered as oval window bulging. Its association with the history of bacterial meningitis was investigated. RESULTS: Common cavity deformity was confirmed in 14/29 children (mean-age 11.4 ±â€Š3.8; age-range 5-20; nine females) referred with this diagnosis. In 7/14 patients, the common cavity deformity was bilateral (i.e., 21 common cavities). Oval window bulging was found in 3/19 common cavities (concomitant middle-ear effusive otitis hampered the evaluation in two cases), while the internal acoustic meatus fundus was defective in 10/21 cases. History of bacterial meningitis was found in three children (21%) and two of them had oval window bulging at CT. In the case unrelated to oval window bulging, meningitis occurred late at the age of 12 during acute otitis contralateral to common cavity deformity (ipsilaterally to incomplete partition type 1). CONCLUSION: Patients harboring common cavity deformity have a high risk of meningitis in their first years of life. Oval window bulging seems to be associated with a higher risk of meningitis. This information might be important for appropriate surgical planning.

Molecular epidemiology of Usher syndrome in Italy.

PURPOSE: Usher syndrome is an autosomal recessive disorder characterized by hearing and vision loss. Usher syndrome is divided into three clinical subclasses (type 1, type 2, and type 3), which differ in terms of the severity and progression of hearing loss and the presence or absence of vestibular symptoms. Usher syndrome is defined by significant genetic heterogeneity, with at least 12 distinct loci described and 9 genes identified. This study aims to provide a molecular epidemiology report of Usher syndrome in Italy. METHODS: Molecular data have been obtained on 75 unrelated Italian patients using the most up-to date technology available for the screening of Usher syndrome gene mutations, i.e., the genotyping microarray developed by Asper Biotech (Tartu, Estonia), which simultaneously investigates 612 different marker positions using the well established arrayed primer extension methodology (APEX). RESULTS: Using this method, we found that 12% of cases (9 out of 75) harbored homozygous or compound heterozygous mutations in the gene positions analyzed, whereas 20% (15 out of 75) of the patients were characterized by the presence of only one mutated allele based on the positions analyzed. One patient was found to be compound heterozygous for mutations in two different genes and this represents an example of possible digenic inheritance in Usher syndrome. A total of 66.6% of cases (50 out of 75) were found to be completely negative for the presence of Usher syndrome gene mutations in the detected positions. Mutations detected by the array were confirmed by direct sequencing. CONCLUSIONS: These findings highlight the efficacy of the APEX-based genotyping approach in the molecular assessment of Usher patients, suggesting the presence of alleles not yet identified and/or the involvement of additional putative genes that may account for the pathogenesis of Usher syndrome.