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Background: Research on hereditary hearing impairment has had several boosts to identify deafness-causing genes. The number of studies regarding the diagnosis and treatment modalities of hereditary hearing impairment is enormous and increasing; however, little or no research has been conducted for evaluating the development of scientific output and trends in the field. Here, we provide a comprehensive overview of centers that focus their research on hereditary hearing impairment and their scientific output., Methods: Bibliometric analysis of the publications related to hereditary hearing impairment published between 1980 and 2019 were used in this study, which were also indexed in Web of Science database., Results: The highest number of scientific articles on hereditary hearing impairment came from the United States, and it was also the most cited country. The University of Iowa is a leading center in the domain of hereditary hearing impairment in the world over the last 40 years. Fudan University, Central South University, and Harvard Medical School are also institutions that have had a focus on hereditary hearing impairment., Conclusions: There is a progressive increase in scientific papers on hereditary hearing impairment over the last 40 years that we have found in our bibliometric study. We identified key centers in the scientific research on hereditary hearing impairment in the world and also key journals that focus on hereditary hearing impairment. This information can facilitate new researchers in this field to seek collaboration with experienced partners, better synthesize the orientation and boundaries of the subject, and find target journals. Ultimately, we provided a certain benchmark value for key centers that perhaps should have a more prominent role in constructing experimental research or even clinical guidelines.

Objective: To compare the cognitive evolution of older adults with severe or profound hearing impairment after cochlear implantation with that of a matched group of older adults with severe hearing impairment who do not receive a cochlear implant (CI)., Design: In this prospective, longitudinal, controlled, and multicenter study, 24 older CI users were included in the intervention group and 24 adults without a CI in the control group. The control group matched the intervention group in terms of gender, age, formal education, cognitive functioning, and residual hearing. Assessments were made at baseline and 14 months later. Primary outcome measurements included the change in the total score on the Repeatable Battery for the Assessment of Neuropsychological Status for Hearing impaired individuals score and on its subdomain score to assess cognitive evolution in both groups. Secondary outcome measurements included self-reported changes in sound quality (Hearing Implant Sound Quality Index), self-perceived hearing disability (Speech, Spatial, and Qualities of Hearing Scale), states of anxiety and depression (Hospital Anxiety and Depression Scale), and level of negative affectivity and social inhibition (Type D questionnaire)., Results: Improvements of the overall cognitive functioning (p = 0.05) and the subdomain "Attention" (p = 0.02) were observed after cochlear implantation in the intervention group; their scores were compared to the corresponding scores in the control group. Significant positive effects of cochlear implantation on sound quality and self-perceived hearing outcomes were found in the intervention group. Notably, 20% fewer traits of Type D personalities were measured in the intervention group after cochlear implantation. In the control group, traits of Type D personalities increased by 13%., Conclusion: Intervention with a CI improved cognitive functioning (domain Attention in particular) in older adults with severe hearing impairment compared to that of the matched controls with hearing impairment without a CI. However, older CI users did not, in terms of cognition, bridge the performance gap with adults with normal hearing after 1 year of CI use. The fact that experienced, older CI users still present subnormal cognitive functioning may highlight the need for additional cognitive rehabilitation in the long term after implantation., (Copyright © 2020 The Authors. Ear & Hearing is published on behalf of the American Auditory Society, by Wolters Kluwer Health, Inc.)

Importance: The cost of bilateral cochlear implantation (BCI) is usually not reimbursed by insurance companies because of a lack of well-designed studies reporting the benefits of a second cochlear implant., Objective: To determine the benefits of simultaneous BCI compared with unilateral cochlear implantation (UCI) in adults with postlingual deafness., Design, Setting, and Participants: A multicenter randomized clinical trial was performed. The study took place in 5 Dutch tertiary referral centers: the University Medical Centers of Utrecht, Maastricht, Groningen, Leiden, and Nijmegen. Forty patients eligible for cochlear implantation met the study criteria and were included from January 12, 2010, through November 2, 2012. The main inclusion criteria were postlingual onset of hearing loss, age of 18 to 70 years, duration of hearing loss of less than 20 years, and a marginal hearing aid benefit. Two participants withdrew from the study before implantation. Nineteen participants were randomized to undergo UCI and 19 to undergo BCI., Interventions: The BCI group received 2 cochlear implants during 1 surgery. The UCI group received 1 cochlear implant., Main Outcomes and Measures: The primary outcome was the Utrecht Sentence Test with Adaptive Randomized Roving levels (speech in noise, both presented from straight ahead). Secondary outcomes were consonant-vowel-consonant words in silence, speech-intelligibility test with spatially separated sources (speech in noise from different directions), sound localization, and quality of hearing questionnaires. Before any data were collected, the hypothesis was that the BCI group would perform better on the objective and subjective tests that concerned speech intelligibility in noise and spatial hearing., Results: Thirty-eight patients were included in the study. Fifteen patients in the BCI group used hearing aids before implantation compared with 19 in the UCI group. Otherwise, there were no significant differences between the groups' baseline characteristics. At 1-year follow-up, there were no significant differences between groups on the Utrecht Sentence Test with Adaptive Randomized Roving levels (9.1 dB, UCI group; 8.2 dB, BCI group; P = .39) or the consonant-vowel-consonant test (median percentage correct score 85.0% in the UCI group and 86.8% in the BCI group; P = .21). The BCI group performed significantly better than the UCI group when noise came from different directions (median speech reception threshold in noise, 14.4 dB, BCI group; 5.6 dB, BCI group; P <.001). The BCI group was better able to localize sounds (median correct score of 50.0% at 60°, UCI group; 96.7%, BCI group; P <.001). These results were consistent with the patients' self-reported hearing capabilities., Conclusions and Relevance: This randomized clinical trial demonstrates a significant benefit of simultaneous BCI above UCI in daily listening situations for adults with postlingual deafness., Trial Registration: trialregister.nl Identifier: NTR1722.

Objective: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox)., Study Design: Double-blind follow-up study., Setting: University hospital., Patients: Sixty-five TS patients (mean age, 24.3 yr) previously treated with growth hormone combined with placebo, Ox 0.03 mg/kg per day, or Ox 0.06 mg/kg per day from the age of 8 years and estrogen from the age of 12 years., Intervention: Ear examination was performed according to standard clinical practice. Air- and bone conduction thresholds were measured in decibel hearing level., Main Outcome Measures: We compared patients with total monosomy of the short arm of the X chromosome (Xp), monosomy 45,X and isochromosome 46,X,i(Xq), with patients with a partial monosomy Xp, mosaicism or other structural X chromosomal anomalies. We assessed the effect of previous Ox treatment., Results: Sixty-six percent of the patients had a history of recurrent otitis media. We found hearing loss in 66% of the ears, including pure sensorineural hearing loss in 32%. Hearing thresholds in patients with a complete monosomy Xp were about 10 dB worse compared with those in patients with a partial monosomy Xp. Air- and bone conduction thresholds were not different between the placebo and Ox treatment groups., Conclusion: Young-adult TS individuals frequently have structural ear pathology, and many suffer from hearing loss. This indicates that careful follow-up to detect ear and hearing problems is necessary, especially for those with a monosomy 45,X or isochromosome 46,X,i(Xq). Ox does not seem to have an effect on hearing.

Objective: To investigate the familial correlations and intraclass correlation of age-related hearing impairment (ARHI) in specific frequencies. In addition, heritability estimates were calculated., Study Design: Multicenter survey in 8 European centers., Subjects: One hundred ninety-eight families consisting of 952 family members, screened by otologic examination and structured interviews. Subjects with general conditions, known to affect hearing thresholds or known otologic cause were excluded from the study., Results: We detected familial correlation coefficients of 0.36, 0.37, 0.36, and 0.30 for 0.25, 0.5, 1, and 2 kHz, respectively, and correlation coefficients of 0.20 and 0.18 for 4 and 8 kHz, respectively. Variance components analyses showed that the proportion of the total variance attributable to family differences was between 0.32 and 0.40 for 0.25, 0.5, 1, and 2 kHz and below 0.20 for 4 and 8 kHz. When testing for homogeneity between sib pair types, we observed a larger familial correlation between female than male subjects. Heritability estimates ranged between 0.79 and 0.36 across the frequencies., Discussion: Our results indicate that there is a substantial shared familial effect in ARHI. We found that familial aggregation of ARHI is markedly higher in the low frequencies and that there is a trend toward higher familial aggregation in female compared with male subjects.

Objectives: : The goals of the present study were twofold: in the first part, the prevalence and profile of hearing disability in healthy, middle-aged persons were determined by the speech, spatial, and qualities of hearing scale (SSQ). In the second part of this study, the number of SSQ items was reduced to five to make this questionnaire available for routine usage in clinical settings and for screening purposes., Methods: : SSQ responses derived from 103 normal-hearing 18- to 25-year-old persons were compared with the SSQ responses of 24 clinically normal-hearing (all thresholds between 125 and 8000 Hz ≤25 dB HL) and 109 healthy, 55- to 65-year-old persons with age-related hearing impairment to determine the prevalence and profile of hearing disability. The 45 items of the SSQ were reduced to five by cluster analyses and binary logistic regression analyses. The robustness of this five-item version (SSQ5) was determined in three control populations: an adult 25- to 55-year-old population (n = 159), an ENT-patient population (n = 60), and a population of hearing aid candidates (n = 50). The feasibility of the SSQ5 for screening was compared with the feasibility of the simple question "Do you have hearing loss?" by determining, respectively, the sensitivity, specificity, and maximum achievable discriminatory power for predicting hearing status according to speech-in-noise performance., Results: : Prevalence numbers showed data of healthy, middle-aged persons with significant disability, despite minimal impairment (25%) versus data of middle-aged persons with significant impairment and nevertheless, minimal disability (61%). The profile of hearing disability seemed similar in all normal-hearing and hearing-impaired subgroups (i.e., most problems with understanding speech especially in noise conditions, and least problems with sound quality). Compared with the single question: "Do you have hearing loss?" the use of the SSQ5 had 37% more maximum discriminatory power for determining hearing status category based on speech-in-noise performance in 55- to 65-year-old persons. In addition, the SSQ5 seemed robust in adult populations of different ages (89.6% correlation between the answers of the SSQ5 and SSQ45), as well as in ENT-patient populations (93.7% correlation) and hearing aid candidate populations (79.2% correlation)., Conclusions: : The results of this study suggest that disability measures and measures for hearing impairment cannot replace each other, but are complementary. Therefore, it is advised to implement both disability measures and impairment measures in screening and referral policies for hearing loss. To get a first impression of hearing disability, our results suggest that it is useful to ask five disability questions (SSQ5) instead of one general question like "Do you have hearing loss?"

A multicenter study was set up to elucidate the environmental and medical risk factors contributing to age-related hearing impairment (ARHI). Nine subsamples, collected by nine audiological centers across Europe, added up to a total of 4,083 subjects between 53 and 67 years. Audiometric data (pure-tone average [PTA]) were collected and the participants filled out a questionnaire on environmental risk factors and medical history. People with a history of disease that could affect hearing were excluded. PTAs were adjusted for age and sex and tested for association with exposure to risk factors. Noise exposure was associated with a significant loss of hearing at high sound frequencies (>1 kHz). Smoking significantly increased high-frequency hearing loss, and the effect was dose-dependent. The effect of smoking remained significant when accounting for cardiovascular disease events. Taller people had better hearing on average with a more pronounced effect at low sound frequencies (<2 kHz). A high body mass index (BMI) correlated with hearing loss across the frequency range tested. Moderate alcohol consumption was inversely correlated with hearing loss. Significant associations were found in the high as well as in the low frequencies. The results suggest that a healthy lifestyle can protect against age-related hearing impairment.

Hearing loss is the most common sensory disorder, affecting 1 in 650 newborns. Linkage analysis revealed linkage to locus DFNA22 in two Belgian families 1 and 2 with autosomal dominant sensorineural hearing loss. As MYO6 has previously been reported as responsible for the hearing loss at loci DFNA22 and DFNB37, respectively, DNA sequencing of the coding region and the promoter of MYO6 was performed but this analysis did not reveal any mutations. However, only in patients of family 2, an insertion of 108 bp was identified in the mRNA of the gene. The inserted fragment was part of intron 23 and sequencing of this intron revealed a new splice-site mutation c.IVS23+2321T>G, segregating with the hearing loss in the family. The mutation causes a frameshift and a premature termination codon, but real-time PCR revealed that only 15-20% of the mRNA is degraded by nonsense-mediated decay, while the other part may give rise to an aberrant protein. In family 1, a quantitative real-time PCR experiment revealed a 1.5-1.8-fold overexpression of MYO6 in patients compared to controls. The possible presence of a gene duplication could be excluded by real-time PCR on genomic level. Most likely, the overexpression is caused by a mutation in an unidentified regulatory region of the gene. This study indicates that the inner ear hair cells are sensitive to changes in expression levels of MYO6.

Hypothesis: The common GJB2 (Connexin 26) 35delG mutation might contribute to the development of age-related hearing impairment (ARHI) and noise-induced hearing loss (NIHL)., Background: GJB2, a gene encoding a gap junction protein expressed in the inner ear, has been suggested to be involved in the potassium recycling pathway in the cochlea. GJB2 mutations account for a large number of individuals with nonsyndromic recessive hearing loss, with 35delG being the most frequent mutation in populations of European origin. Other genes involved in potassium homeostasis have been suggested to be associated with ARHI and NIHL, and distortion product otoacoustic emission distortions indicative of hearing loss alterations have been found in 35delG carriers., Method: We genotyped 35delG in two distinct sample sets: an ARHI sample set, composed of 2,311 Caucasian samples from nine different centers originating from seven different countries with an age range between 53 and 67 years, and an NIHL sample set consisting of 702 samples from the two extremes of a noise-exposed Polish sample., Results: After statistical analysis, we were unable to detect an association between 35delG and ARHI, nor between 35delG and NIHL., Conclusion: Our findings indicate that there is no increased susceptibility in 35delG carriers for the development of ARHI or NIHL.

Objectives: International guidelines indicate that children with profound hearing loss should receive a cochlear implant (CI) soon after diagnosis in order to optimize speech and language rehabilitation. Although prompt rehabilitation is encouraged by current guidelines, delays in cochlear implantation are still present. This study investigated whether European countries establish timely pediatric CI care based on epidemiological, commercial, and clinical data.Methods: An estimation of the number of pediatric CI candidates in European countries was performed and compared to epidemiological (Euro-CIU), commercial (Cochlear®), and clinical (institutional) age-at-implantation data. The ages at implantation of pediatric patients in eight countries (the Netherlands, Belgium, Germany, the United Kingdom, France, Turkey, Portugal, and Italy) between 2005 and 2015 were evaluated.Results: From 2010 onwards, over 30% of the pediatric CI candidates were implanted before 24 months of age. Northern European institutions implanted children on average around 12 months of age, whereas southern European institutions implanted children after 18 months of age. The Netherlands and Germany implanted earliest (between 6 and 11 months).Discussion: Implemented newborn hearing screening programs and reimbursement rates of CIs vary greatly within Europe due to local, social, financial, and political differences. However, internationally accepted recommendations are applicable to this heterogeneous European CI practice. Although consensus on early pediatric cochlear implantation exists, this study identified marked delays in European care.Conclusion: Regardless of the great heterogeneity in European practice, reasons for latency should be identified on a national level and possibilities to prevent avoidable future implantation delays should be explored to provide national recommendations. [ABSTRACT FROM AUTHOR]

Objective: To compare speech perception between children with a different age at cochlear implantation.Design: We evaluated speech perception by comparing consonant–vowel–consonant (auditory) (CVC(A)) scores at five-year follow-up of children implanted between 1997 and 2010. The proportion of children from each age-at-implantation group reaching the 95%CI of CVC(A) ceiling scores (>95%) was calculated to identify speech perception differences masked by ceiling effects.Study sample: 54 children implanted between 8 and 36 months.Results: Although ceiling effects occurred, a CVC(A) score difference between age-at-implantation groups was confirmed (H(4) = 30.36;p < 0.001). Outperformance of early (<18 months) compared to later implanted children was demonstrated (p <0.001). A larger proportion of children implanted before 13 months compared to children implanted between 13 and 18 months reached ceiling scores. Logistic regression confirmed that age at implantation predicted whether a child reached a ceiling score.Conclusions: Ceiling effects can mask thorough delineation of speech perception. However, this study showed long-term speech perception outperformance of early implanted children (<18 months) either including or not accounting for ceiling effects during analysis. Development of long-term assessment tools not affected by ceiling effects is essential to maintain adequate assessment of young implanted infants. [ABSTRACT FROM PUBLISHER]

Objectives/hypothesis: To investigate hearing capabilities and self-reported benefits of simultaneous bilateral cochlear implantation (BiCI) compared with unilateral cochlear implantation (UCI) after a 2-year follow-up and to evaluate the learning effect of cochlear implantees over time.Study Design: Multicenter randomized controlled trial.Methods: Thirty-eight postlingually deafened adults were included in this study and randomly allocated to either UCI or simultaneous BiCI. Our primary outcome was speech intelligibility in noise, with speech and noise coming from straight ahead (Utrecht-Sentence Test with Adaptive Randomized Roving levels). Secondary outcomes were speech intelligibility in noise with spatially separated sources, speech intelligibility in silence (Dutch phoneme test), localization capabilities and self-reported benefits assessed with different quality of hearing and quality of life (QoL) questionnaires. This article describes the results after 2 years of follow-up.Results: We found comparable results for the UCI and simultaneous BiCI group, when speech and noise were both presented from straight ahead. Patients in the BiCI group performed significantly better than patients in the UCI group, when speech and noise came from different directions (P = .01). Furthermore, their localization capabilities were significantly better. These results were consistent with patients' self-reported hearing capabilities, but not with the questionnaires regarding QoL. We found no significant differences on any of the subjective and objective reported outcomes between the 1-year and 2-year follow-up.Conclusions: This study demonstrates important benefits of simultaneous BiCI compared with UCI that remain stable over time. Bilaterally implanted patients benefit significantly in difficult everyday listening situations such as when speech and noise come from different directions. Furthermore, bilaterally implanted patients are able to localize sounds, which is impossible for unilaterally implanted patients.Level Of Evidence: 1b Laryngoscope, 127:1161-1168, 2017. [ABSTRACT FROM AUTHOR]

Objective: This review aimed to evaluate the additional benefit of pediatric cochlear implantation before 12 months of age considering improved speech and language development and auditory performance.Materials and Methods: We conducted a search in PubMed, EMBASE and CINAHL databases and included studies comparing groups with different ages at implantation and assessing speech perception and speech production, receptive language and/or auditory performance. We included studies with a high directness of evidence (DoE).Results: We retrieved 3,360 articles. Ten studies with a high DoE were included. Four articles with medium DoE were discussed in addition. Six studies compared infants implanted before 12 months with children implanted between 12 and 24 months. Follow-up ranged from 6 months to 9 years. Cochlear implantation before the age of 2 years is beneficial according to one speech perception score (phonetically balanced kindergarten combined with consonant-nucleus-consonant) but not on Glendonald auditory screening procedure scores. Implantation before 12 months resulted in better speech production (diagnostic evaluation of articulation and phonology and infant-toddler meaningful auditory integration scale), auditory performance (Categories of Auditory Performance-II score) and receptive language scores (2 out of 5; Preschool Language Scale combined with oral and written language skills and Peabody Picture Vocabulary Test).Conclusions: The current best evidence lacks level 1 evidence studies and consists mainly of cohort studies with a moderate to high risk of bias. Included studies showed consistent evidence that cochlear implantation should be performed early in life, but evidence is inconsistent on all speech and language outcome measures regarding the additional benefit of implantation before the age of 12 months. Long-term follow-up studies are necessary to provide insight on additional benefits of early pediatric cochlear implantation. [ABSTRACT FROM AUTHOR]

The Advanced Bionics® (AB)-York crescent of sound is a new test setup that comprises speech intelligibility in noise and localization tests that represent everyday listening situations. One of its tests is the Sentence Test with Adaptive Randomized Roving levels (STARR) with sentences and noise both presented from straight ahead. For the Dutch population, we adopted the AB-York setup and replaced the English sentences with a validated set of Dutch sentences. The Dutch version of the STARR is called the Utrecht-STARR (U-STARR). This study primarily assesses the validity and reliability of the U-STARR compared to the Plomp test, which is the current Dutch gold standard for speech-in-noise testing. The outcome of both tests is a speech reception threshold in noise (SRTn). Secondary outcomes are the SRTn measured with sounds from spatially separated sources (SISSS) as well as sound localization capability. We tested 29 normal-hearing adults and 18 postlingually deafened adult patients with unilateral cochlear implants (CI). This study shows that the U-STARR is adequate and reliable and seems better suited for severely hearing-impaired persons than the conventional Plomp test. Further, CI patients have poor spatial listening skills, as demonstrated with the AB-York test. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Ossicular fixation through otosclerosis, chronic otitis media and other pathologies, especially tympanosclerosis, are treated by surgery if hearing aids fail as an alternative. However, the best hearing outcome is often based on knowledge of the degree and location of the fixation. Objective methods to quantify the degree and position of the fixation are largely lacking. Laser vibrometry is a known method to detect ossicular fixation but clinical applicability remains limited. A new method, minimally invasive laser vibrometry (MIVIB), is presented to quantify ossicle mobility using laser vibrometry measurement through the ear canal after elevating the tympanic membrane, thus making the method feasible in minimally invasive explorative surgery. A floating mass transducer provides a clinically relevant transducer to drive ossicular vibration. This device was attached to the manubrium and drove vibrations at the same angle as the longitudinal axis of the stapes and was therefore used to assess ossicular chain mobility in a fresh-frozen temporal bone model with and without stapes fixation. The ratio between the umbo and incus long process was shown to be useful in assessing stapes fixation. The incus-to-umbo velocity ratio decreased by 15 dB when comparing the unfixated situation to stapes fixation up to 2.5 kHz. Such quantification of ossicular fixation using the incus-to-umbo velocity ratio would allow quick and objective analysis of ossicular chain fixations which will assist the surgeon in surgical planning and optimize hearing outcomes. [ABSTRACT FROM AUTHOR]