Vascular Factors in Patients with Midlife Sensorineural Hearing Loss and the Progression to Mild Cognitive Impairment.

Background and Objectives: Midlife hearing loss (HL) has been considered as a major modifiable risk factor for a later-life progression to dementia. Our aim was to detect a link between precocious sensorineural hearing loss (SNHL) and mild cognitive impairment (MCI) and their association to putative risk factors for a common pathology. Materials and methods: In this study, a retrospective case-control study was carried out. A total of 112 patients were enrolled as following: 81 patients with bilateral SNHL and 31 subjects with normal hearing, whose ages ranged from 50 to 65 years. Both groups performed pure tone audiometry, a tinnitus handicap inventory (THI), Mini-Mental State examination (MMSE), and the Montreal Cognitive Assessment (MoCA), Hospital Anxiety and Depression Scale (HADS-A and HADS-D). Results: The mean age was 58 ± 5.2 in SNHL patients and 53.2 ± 4.8 in the control group. The mean pure tone average in the SNHL group was 40.2 ± 18.7 dB HL on the right side and 41.2 ± 17.2 dB HL on the left side, while in the control group it was 12.5 ± 2.8 dB HL on right side and 12.4 ± 3.1 dB HL on left side. About 64% of patients with SNHL exhibited comorbidities, and the most common condition was hypertension. Altered MoCA test scores were significantly related to the pure tone averages in patients with SNHL compared to the control group (p = 0.0004), while the differences in the HADS-A and HADS-D were not significant. Furthermore, a significant correlation was observed in SNHL patients between an altered MoCA test and hypercholesterolemia (p = 0.043). Conclusions: Hearing impairment and screening tests to detect MCI should be considered in the midlife in order to carry out strategies to prevent the progression to dementia. Hypertension and hypercholesterolemia are two risk factors in the development of endothelial dysfunction, oxidative stress, and vascular inflammation, and may represent the common pathology linking the inner ear and brain damage.

NeonaTal Assisted TelerehAbilitation (T.A.T.A. Web App) for Hearing-Impaired Children: A Family-Centered Care Model for Early Intervention in Congenital Hearing Loss.

BACKGROUND: An early hearing detection and intervention program (EHDI) is the first step for the habilitation of children with permanent hearing impairment (PHI). Actually, early intervention programs have increasingly shifted toward family involvement, emphasizing that the child's family should take an active role in the habilitation process. Therefore, familiar empowerment is the best way to improve a child's emerging abilities. The aim of this study was to investigate parental self-efficacy beliefs and involvement as well as the language skills of deaf or hard of hearing DHH children who were habilitated with hearing aids and followed using the T.A.T.A web app (NeonaTal Assisted TelerehAbilitation), an example of asynchronous telepractice. METHODS: The study describes the early stages of the habilitation program of 15 PHI children followed through the T.A.T.A. web app, which empowers families through a weekly questionnaire submitted during the first 270 to 360 days of their child's life, for 14 weeks. The family involvement rate scale (FIRS) was used to evaluate parental compliance, and all children received in-person visits at the beginning and at the end of the training period. RESULTS: The children showed greater auditory perceptual skills at the end of the training period on the basis of both the Infant Listening Progress Profile (ILiP) score and the Categories of Auditory Performance (CAP) and FIRS scales. In other words, the auditory skills improved with age as well as with parental participation. CONCLUSIONS: The T.A.T.A. web app promotes a proactive management and a tailored habilitation through an active familiar involvement, easily achieved in clinical routine and in emergency settings without additional costs.

Performance and characteristics of the Newborn Hearing Screening Program in Campania region (Italy) between 2013 and 2019.

PURPOSE: Universal newborn hearing screening (UNHS) in the first month of life is crucial for facilitating both early hearing detection and intervention (EHDI) of significant permanent hearing impairment (PHI). In Campania region, UNHS has been introduced in 2003 by the Regional Council Resolution and started on January 2007. The aim of this paper is to update a previous article describing the performance of the program since its implementation in the period between 2013 and 2019. METHODS: A longitudinal retrospective study was carried at the Regional Reference Center III on 350,178 babies born in the analysis period. The paper reports the main results of overall coverage, referral rate, lost-to-follow-up rate,yield for PHI and shall determine various risk factor associations with hearing impairment RESULTS: In Campania region, 318,878 newborns were enrolled at I level, with a coverage rate of 91.06%, 301,818 (86.18%) Well Infant Nurseries (WIN) and 17,060 (5.35%) Neonatal Intensive Care Unit (NICU) babies. PHI was identified in 413 children, 288 (69.73%) bilaterally and 125 (30.26%) unilaterally. The overall cumulative incidence rate of PHI was 1.29 per 1000 live-born infants (95% CI 1.17-1.42) with a quite steady tendency during the whole study period. CONCLUSIONS: This study confirms the feasibility and effectiveness of UNHS in Campania region also in a setting with major socioeconomic and health organization restrictions.The program meets quality benchmarks to evaluate the progress of UNHS. Nowadays, it is possible to achieve an early diagnosis of all types of HL avoiding the consequences of hearing deprivation.

Integrated Bimodal Fitting for Unilateral CI Users with Residual Contralateral Hearing.

BACKGROUND: The aim of this study was to compare, in users of bimodal cochlear implants, the performance obtained using their own hearing aids (adjusted with the standard NAL-NL1 fitting formula) with the performance using the Phonak Naìda Link Ultra Power hearing aid adjusted with both NAL-NL1 and a new bimodal system (Adaptive Phonak Digital Bimodal (APDB)) developed by Advanced Bionics and Phonak Corporations. METHODS: Eleven bimodal users (Naìda CI Q70 + contralateral hearing aid) were enrolled in our study. The users' own hearing aids were replaced with the Phonak Naìda Link Ultra Power and fitted following the new formula. Speech intelligibility was assessed in quiet and noisy conditions, and comparisons were made with the results obtained with the users' previous hearing aids and with the Naída Link hearing aids fitted with the NAL-NL1 generic prescription formula. RESULTS: Using Phonak Naìda Link Ultra Power hearing aids with the Adaptive Phonak Digital Bimodal fitting formula, performance was significantly better than that with the users' own rehabilitation systems, especially in challenging hearing situations for all analyzed subjects. CONCLUSIONS: Speech intelligibility tests in quiet settings did not reveal a significant difference in performance between the new fitting formula and NAL-NL1 fittings (using the Naída Link hearing aids), whereas the performance difference between the two fittings was very significant in noisy test conditions.

Tinnitus and Neuropsychological Dysfunction in the Elderly: A Systematic Review on Possible Links.

INTRODUCTION: Tinnitus is a common and disabling symptom often associated with hearing loss. While clinical practice frequently shows that a certain degree of psychological discomfort often characterizes tinnitus suffers, it has been recently suggested in adults as a determining factor for cognitive decline affecting attention and memory domains. The aim of our systematic review was to provide evidence for a link between tinnitus, psychological distress, and cognitive dysfunction in older patients and to focus on putative mechanisms of this relationship. METHODS: We performed a systematic review, finally including 192 articles that were screened. This resulted in 12 manuscripts of which the full texts were included in a qualitative analysis. RESULTS: The association between tinnitus and psychological distress, mainly depression, has been demonstrated in older patients, although only few studies addressed the aged population. Limited studies on cognitive dysfunction in aged patients affected by chronic tinnitus are hardly comparable, as they use different methods to validate cognitive impairment. Actual evidence does not allow us with certainty to establish if tinnitus matters as an independent risk factor for cognitive impairment or evolution to dementia. CONCLUSION: Tinnitus, which is usually associated with age-related hearing loss, might negatively affect emotional wellbeing and cognitive capacities in older people, but further studies are required to improve the evidence.

Targeted Audiological Surveillance Program in Campania, Italy.

OBJECTIVE: To identify children with postnatal hearing loss, a structured monitoring system is needed. The goal of this study was to describe a targeted surveillance program in Italy to identify children with postnatal hearing loss. METHODS: Between January, 2013, and December, 2016, all children who received bilateral 'pass' result at the newborn hearing screening, and who were identified as having at least one risk factor, were referred for targeted surveillance. The hospital records of these children were retrieved. RESULTS: Among children enrolled, 66 were identified with permanent hearing loss. The most frequent risk factors were family history (35%), prematurity (25.5%), low birthweight (19.2%), severe hyperbilirubinemia (19%), prolonged ventilation (15%) and congenital infection (12.5%). CONCLUSIONS: An audiological surveillance program in newborns who 'pass' in neonatal screening, but have risk factors, is effective in identifying permanent postnatal hearing disorders.

Tinnitus and equilibrium disorders in COVID-19 patients: preliminary results.

PURPOSE: Tinnitus and equilibrium disorders such as dizziness and vertigo have been reported by patients with COVID-19; however, they have been rarely investigated. The aim of this study was to study the prevalence of subjective tinnitus and dizziness in a sample of COVID-19 patients using an online 10-item close-ended questionnaire. METHODS: A multicentric study that included 15 Italian hospitals in different regions was conducted using an online 10-item close-ended questionnaire developed to identify the presence of tinnitus and balance disorders in patients with COVID-19 between May 5 and June 10, 2020. The questionnaire was administered to 185 patients in a period of > 30 - < 60 days after diagnosis of COVID-19; responses were recorded in an online Excel spreadsheet. The questionnaire was composed of three sections: (1) demographic information; (2) presence and characteristics of tinnitus and dizziness after COVID-19 diagnosis; (3) possible association with migraine. RESULTS: Thirty-four patients (18.4%) reported equilibrium disorders after COVID-19 diagnosis. Of these, 32 patients reported dizziness (94.1%) and 2 (5.9%) reported acute vertigo attacks. Forty-three patients (23.2%) reported tinnitus; 14 (7.6%) reported both tinnitus and equilibrium disorders. CONCLUSION: This study suggests that the presence of subjective otoneurological symptoms such as tinnitus and balance disorders can affect COVID-19 patients; further studies are necessary to investigate the prevalence and pathophysiological mechanisms underlying these subjective symptoms in COVID-19 patients.

Sudden olfactory loss as an early marker of COVID-19: a nationwide Italian survey.

PURPOSE: The presence of many asymptomatic COVID-19 cases may increase the risks of disease dissemination, mainly for physicians. There are numerous reports on the frequent findings of sudden anosmia or hyposmia, before or at the same time of the typical COVID-19 symptoms onset. The aim of this study was to verify the association of olfactory impairment and COVID-19, providing a basis for subsequent research in the field of COVID-19 clinical heterogeneity. METHODS: We developed a 15-item online questionnaire on "Sudden Olfactory Loss (SOL) and COVID-19" that was administered during March 2020 to Italian general practitioners registered to a social media group. RESULTS: One hundred and eighty responses were received. SOL was identified as a significant sign of infection in COVID-19 patients, mainly aged between 30 and 40 years, even in the absence of other symptoms. SOL was present as an initial symptom in 46.7% of subjects, and in 16.7%, it was the only symptom. Among the COVID-19 confirmed cases, SOL occurred as the only symptom in 19.2% of patients. CONCLUSION: SOL could represent a possible early symptom in otherwise asymptomatic COVID-19 subjects. Subjects affected by SOL should be considered as potential COVID-19 cases. LEVEL OF EVIDENCE: 4.

The role of endogenous Antisecretory Factor (AF) in the treatment of Ménière's Disease: A two-year follow-up study. Preliminary results.

PURPOSE: To evaluate the effects of increased endogenous Antisecretory Factor (AF) synthesis using specially processed cereals (SPC) in a sample of patients with defined unilateral Meniere's disease (MD), compared to the results of a treatment protocol of intravenous glycerol and dexamethasone. MATERIALS AND METHODS: Twenty-six patients with unilateral MD were divided in 2 groups and treated with SPC and with intravenous glycerol and dexamethasone for 24 months. Audio-vestibular evaluation was performed before (T0) and every six months. The number of vertigo spells were evaluated before and after therapy and the Efficacy Index (EI) was calculated. Questionnaires for hearing loss, tinnitus and quality of life were administered. RESULTS: EI decreased in the SPC group after 18 (T18) (p = .0017) and 24 (T24) months of therapy (p = .0111). There was a significant reduction for tinnitus score in the SPC group at T24 (p = .0131). No significant differences were found between the two groups at T0 (p = .4723), while a significant difference was found at T24 (p = .0027). Quality of life showed a significant improvement in daily activities in the SPC group (p = .0033) compared to the infusion therapy group. No statistically significant changes in PTA thresholds were found in both groups between T0 and T24. CONCLUSION: The preliminary results of our study show a significant reduction of vertigo spells and a positive effect on tinnitus severity and on quality of life in patients with unilateral MD treated with SPC and when compared to patients treated with intravenous glycerol and dexamethasone. No effects on hearing thresholds were noted in both groups.

Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report.

Sensorineural hearing loss is a heterogeneous disease caused by mutations in many genes. However, in the presence of enlarged vestibular aqueduct, it is frequently associated with mutations in the solute carrier family 26 member 4 (SLC26A4), a gene causative of a syndromic form (Pendred) as well as a non-syndromic form of hearing loss (DFNB4). We describe a clinical case presenting bilateral sensorineural hearing loss and enlarged vestibular aqueduct in which a novel homozygous SLC26A4 mutation was identified. Despite a late diagnosis of hearing loss, a peculiar rehabilitation therapy strategy was identified that provided excellent results.

X-Linked Sensorineural Hearing Loss: A Literature Review.

Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several types of transmission. X-linked hearing loss accounts for approximately 1% - 2% of cases of non-syndromic forms, as well as for many syndromic forms. To date, six loci (DFNX1-6) and five genes (PRPS1 for DFNX1, POU3F4 for DFNX2, SMPX for DFNX4, AIFM1 for DFNX5 and COL4A6 for DFNX6) have been identified for X-linked non-syndromic hearing loss. For the syndromic forms, at least 15 genes have been identified, some of which are also implicated in non-syndromic forms. Moreover, some syndromic forms, presenting large chromosomal deletions, are associated with mental retardation too. This review presents an overview of the currently known genes related to X-linked hearing loss with the support of the most recent literature. It summarizes the genetics and clinical features of X-linked hearing loss to give information useful to realize a clear genetic counseling and an early diagnosis. It is important to get an early diagnosis of these diseases to decide the investigations to predict the evolution of the disease and the onset of any other future symptoms. This information will be clearly useful for choosing the best therapeutic strategy. In particular, regarding audiological aspects, this review highlights risks and benefits currently known in some cases for specific therapeutic intervention.

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.

BACKGROUND: Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still missing. Thus, the aim of this study is to realize a detailed clinical and molecular analysis of a family affected by syndromic X-linked hearing loss with intellectual disability. RESULTS: Clinical analyses revealed a very complex phenotype that included inner ear malformations, vestibular problems, choroideremia and hypotonia with a peculiar pattern of phenotypic variability. Genomic analysis revealed, for the first time, the presence of two close interstitial deletions in the Xq21.1-21.3, harboring 11 protein coding, 9 non-coding genes and 19 pseudogenes. Among these, 3 protein coding genes have already been associated with X-linked hearing loss, intellectual disability and choroideremia. CONCLUSIONS: In this study we highlighted the presence of peculiar genotypic and phenotypic details in a family affected by syndromic X-linked hearing loss with intellectual disability. We identified two, previously unreported, Xq21.1-21.3 interstitial deletions. The two rearrangements, containing several genes, segregate with the clinical features, suggesting their role in the pathogenicity. However, not all the observed phenotypic features can be clearly associated with the known genes thus, further study is necessary to determine regions involved.

Very good performance with bimodal stimulation in a like-hybrid modality in a patient with profound bilateral sensorineural hearing loss with low-frequencies preservation.

In this work we describe the experimental protocol set up to obtain very good results in speech performance and in time course, with a subject presenting profound bilateral sensorineural hearing loss with low-frequencies preservation. We used a bimodal stimulation with a like-hybrid modality. Auditory functions have been analyzed by standard tonal and speech audiometry tests, and verbal perception test. The fitting protocol permitted the subject to reach a perception at 65 dB of 100% in a very short time. The subject showed a sufficient recovery of the language spectral information and a good integration of verbal information with high consonantal recognition is present. This case report shows the importance to realize a correct cochlear implant fitting and that, in the case of bimodal stimulation, it is very important to obtain the mutual adjustment of the two hearing aids. Moreover, this study enhances the importance of realizing a preservative surgery to make the most of cochlear implants capacity.

Feasibility and effectiveness of a population-based newborn hearing screening in an economically deprived region of Italy.

AIM: To describe the effectiveness of a population-based newborn hearing screening program in an economically deprived region of southern Italy. METHODS: A screening protocol was proposed for all newborns of the Campania region, starting on January, 2007. For infants identified with hearing loss, information on degree and type of hearing loss and presence of risk factors was collected. RESULTS: The infants born in the 3-year study period were 182,188. Among them, 146,026 (80%) were tested with OAE. Sensorineural hearing loss ≥40dBnHL was established for 159 infants (1.1×1000). Among the NICU and WIN infants, the rate of hearing loss was respectively 9×1000 and 0.67×1000. Follow-up information was available for 111 children (70%), as 48 (30%) got care in other regions or health facilities. Most infants were fitted hearing aids by 1 month after diagnosis and 15 children (13.5%) received a cochlear implant at a mean age of 25 months (SD 10). CONCLUSIONS: Even in a setting of population poverty, a universal newborn screening program can deliver satisfactory outcomes. The coverage and the tracking system of the program need to be improved, as well as the cooperation between public and private health services.

The development of language in babies and the role of the family.

Nowadays for deaf children there are many new opportunities that provide enhanced ways of hearing stimulation.These concerns may result as much more significant as the family is engaged in the stimulation program. An NHS program in Campania was launched in 2005. According to these concerns, the family plays a central role both in the diagnostic and the therapeutic intervention of the impaired children. As paradigm of the important role of the family in the rehab project is a comparison between two kids in charge by our team. The outcomes are better in children who received stimulation by the family.

Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.

The aim of this study was to screen 349 patients affected by sensorineural hearing loss (SNHL), mostly from the Campania region (southern Italy), for GJB2 gene mutations and for two deletions of the GJB6 gene (del GJB6 -D13S1830 and del GJB6 -D13S1854). We identified pathogenetic GJB2 mutations in 51 cases (15% of patients). No GJB6 mutation was found. We also examined the audiologic features of the patients for whom we had an etiologic diagnosis, in order to identify correlations between the severity of hearing loss and the type of mutation.

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.

The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell-cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic sensorineural hearing loss. GJB2 mutations have also been identified in syndromic disorders exhibiting hearing loss associated with skin problems. Recently, a new mutation, p.G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome. In this case the p.G130V mutation was found in two patients (son and father) with palmoplantar keratoderma. The father also showed also skin constrictions of the 2nd and 3rd toes of the right foot. Here, we report on another family with palmoplantar keratoderma associated with a dominant form of hearing loss confirming the genotype-phenotype correlation between the mutation p.G130V and the skin abnormalities observed in syndromic disorders with hearing loss as described by [Snoeckx et al. (2005) Hum Mutat 26:60-65].