Bilateral Hearing Impairment Research Articles

Prevalence of hearing loss in schoolchildren: populational study and global estimates

Introduction. Hearing impairments in schoolchildren affects learning and communication. Reliable data on hearing loss prevalence in this group are necessary for planning the audiological care.Aim. To compare data from a population-based study of the hearing loss prevalence in schoolchildren and estimates from the Global Burden of Disease (GBD) study in the Republic of Yemen.Materials and methods. Data extraction was performed from the GBD database on the prevalence of bilateral hearing loss >20 dB among children aged 5–9 years in the Republic of Yemen. A two-stage study of hearing loss prevalence among primary school students aged 6–9 years in Sana’a, Republic of Yemen, in a sample of 2200 children using screening audiometry at 20 dB at 0.5, 1, 2, and 4 kHz is school settings, followed by tonal threshold audiometry and tympanometry in a specialized clinic. Hearing loss was assessed as unilateral or bilateral when hearing thresholds were higher than 25 dB.Results. According to GBD estimates, bilateral hearing impairment in this population is 2.2%, including 1.4% of mild degree. According to the results of a Yemenian population study, mild and moderate hearing impairment was detected in 10.6%, of which 6.8% – unilateral, 3.8% – bilateral hearing loss. There were no cases of severe or profound hearing loss. The prevalence of otitis media with effusion was 6%, chronic suppurative otitis media – 1.8%, sensorineural hearing loss – 1.6%.Conclusion. Bilateral hearing impairments occur in 2.2–3.8% of primary school students, with unilateral impairments the prevalence is up to 10.6%. Of these, at least 65% have conductive hearing loss due to pathology of the middle ear. The data obtained will improve the efficiency of ear and hearing care for schoolchildren.

Hearing Aid Interventions and Its Effect on Hearing Handicap Inventory for Elderly Score Among Elders with Bilateral Hearing Impairment

Background: Several elderly populations face impairment in hearing, difficulty in following discussions in the presence of multiple talkers, understanding the speech of unfamiliar people, understanding fast speech, and understanding speech in noisy environments. Many hearing rehabilitation programs came into the picture for the help of the elderly population. The aim of the meta-analysis was to assess the effect of hearing aid interventions on hearing handicap inventory for elderly (HHIE) scores among elders with bilateral hearing impairment in randomized controlled trials (RCTs). Materials and Methods: Two independent reviewers searched for full-text RCTs from worldwide online databases named PubMed and Google Scholar. Studies from January 2000 to January 2022 in the English language conducted among humans were considered. The search strategy contains PICO format in which P-elders with bilateral hearing impairment, I-hearing aid intervention, C-placebo, O-HHIE scores as outcome measures. Results: A total of 28 trials were identified from online databases using PICO format further on evaluation 8 trials with a total of 445 participants were included for the final meta-analysis of the study. The pooled results after sensitivity analysis revealed that 7 trials had a significant reduction in mean difference (MD) of HHIE score among elders with bilateral hearing impairment (MD-2.21 (95% confidence interval [CI] = −4.24 to −0.19), P = 0.03 with heterogeneity (I 2 = 48%, P = 0.07) in the fixed-effect model. The Stratified analysis was also done between subgroups as HHIE-social/situational and HHIE-emotional scores shows no significant difference among subgroups for the reduction in a MD of scores −5.34 (95% CI −7.05, −3.64), P = 0.03 without any heterogeneity (I 2 = 0%, P = 0.97) with use of fixed-effect model. Conclusion: The findings of the meta-analysis revealed that any type of hearing aids interventional program is found to be effective in reducing HHIE scores. It indicates that these interventions result in a reduction in social and emotional consequences due to hearing loss among elders with bilateral hearing impairment. Adherence to the hearing rehabilitation programs is highly recommended by the researchers to improve social and emotional aspects of life among elders.

Mild Traumatic Brain Injury & Associated Hearing Loss Post Road Traffic Accident: A Case Study

A concussion could be a delicate variety of traumatic brain injuries (mTBI) caused by a bump, blow, or jolt to the head. The first injury in a very delicate concussion could be a contusion (bruising) the brain. However in moderate to severe cases, haemorrhage (bleeding) of the brain can occur. The most common causes of concussions are sports injuries, bicycle and automotive accidents, and falls. Purpose: This study aimed to use activity and electrophysiological assessments to analyse the association between hearing disorder and traumatic brain injury. Method: The current work describes the case of a 25-year-old male who was brought to the department with bilateral hearing impairment with no different otological symptoms. The patient’s history concealed that he had encountered a road traffic accident 2 weeks prior. The patient had no hearing issues prior the insult. The patient conferred during this case study underwent multiple tests including behavioural, physiological and electrophysiological analyses. Conclusion: All analyses concluded that TBI will have a sway on the sensory system and may cause hearing disorders. This study highlighted the particular impact of TBI on the auditory system and so, the importance of receiving a full audiological assessment post TBI.

Predicting Aided Outcome With Aided Word Recognition Scores Measured With Linear Amplification at Above-conversational Levels.

Many hearing aid (HA) users receive limited benefit from amplification, especially when trying to understand speech in noise, and they often report hearing-related residual activity limitations. Current HA fitting strategies are typically based on pure-tone hearing thresholds only, even though suprathreshold factors have been linked to aided outcomes. Furthermore, clinical measures of speech perception such as word recognition scores (WRSs) are performed without frequency-specific amplification, likely resulting in suboptimal speech audibility and thus inaccurate estimates of suprathreshold hearing abilities. Corresponding measures with frequency-specific amplification ("aided") would likely improve such estimates and enable more accurate aided outcome prediction. Here, we investigated potential links between either unaided WRSs or aided WRSs measured at several above-conversational levels and two established HA outcome measures: The Hearing-In-Noise Test (HINT) and the International Outcome Inventory for Hearing Aids (IOI-HA). Thirty-seven older individuals with bilateral hearing impairments participated. Two conditions were tested: unaided and aided, with all stimuli presented over headphones. In the unaided condition, the most comfortable level (MCL) for the presented speech stimuli, WRS at MCL+10 dB as well as uncomfortable levels (UCLs) for narrowband noise stimuli were measured. In the aided condition, all stimuli were individually amplified according to the "National Acoustic Laboratories-Revised, Profound" fitting rule. Aided WRSs were then measured using an Interacoustics Affinity system at three above-conversational levels, allowing for the maximum aided WRS as well as the presence of "rollover" in the performance-intensity function to be estimated. Multivariate data analyses were performed to examine the relations between the HINT (measured using a simulated HA with the NAL-RP amplification) or IOI-HA scores (for the participants' own HAs) and various potential predictors (age, pure-tone average hearing loss, unaided WRS, aided WRS, rollover presence [ROp], and UCL). Aided WRSs predicted the HINT scores better than any other predictor and were also the only significant predictor of the IOI-HA scores. In addition, UCL and ROp in the aided WRSs were significant predictors of the HINT scores and competed for variance in the statistical models. Neither age nor pure-tone average hearing loss could predict the two aided outcomes. Aided WRSs can predict HA outcome more effectively than unaided WRSs, age or pure-tone audiometry and could be relatively easily implemented in clinical settings. More research is necessary to better understand the relations between ROp, UCL and speech recognition at above-conversational levels.

Environmental racism in Canada.

> You are a family physician doing a locum in northwestern Ontario. Your next patient is a 6-year-old child who presents with chronic fatigue and paresthesia in their extremities. Upon physical examination, you also discover bilateral hearing impairment.[1][1] You recall reading in the news that,

Outcome of language therapy in bimodal-fit children versus unilateral cochlear implant children in bilateral sensorineural hearing impairment: a case-control study

BackgroundTreating hearing-impaired children aims not only to improve their hearing but also to enhance language acquisition capability. In our community, the CI usually performed on one side because of financial issues at least for a period of time. Consequently, the brain may neglect the unfitted ear. Contralateral hearing aid is an alternative solution when bilateral CI is unavailable. Our purpose is to evaluate the language outcome in bimodal-fit children who using cochlear implant (CI) and contralateral hearing aid (HA) compared to children using unilateral cochlear implant only.ResultsIn this case-control study, 15 children who are using binaural-bimodal stimulation by unilateral CI and contralateral HA and 15 children using monaural cochlear implant received auditory training and language therapy. All participants have been assigned randomly from the Phoniatrics and Audiology clinics. Filtering of patients was made to get the two groups matched regarding age, sex, family motivation, age of implantation, and age of hearing impairment. Evaluation and language therapy were performed in the Phoniatrics clinic. Language progress in each group was compared over different time-points. Also, it was compared between the two groups in each time-point. Both groups revealed significant language improvement over time with intensive auditory training and language therapy. In addition, the bimodal-fit children showed better language and speech outcomes than the unilateral CI children in receptive semantics, expressive semantics, word class, mean length of utterance, and speech intelligibility. The differences were significant with P-values 0.047, 0.034, 0.03, 0.016, and 0.028, respectively, after 9 months of rehabilitation.ConclusionBimodal-fit children showed better improvement in language than the unilateral CI group. The contralateral hearing aid may be complementary to the unilateral cochlear implant by covering wider speech frequency range. Also, it prevents auditory deprivation and enables binaural hearing with positive impact on language outcome.

Deficiency in vitamin D is associated with bilateral hearing impairment and bilateral sensorineural hearing loss in older adults

Hearing impairment and vitamin D (VD) deficiency are both public health concerns. The purpose of the study was to examine whether VD deficiency and hearing impairment, specifically sensorineural hearing loss, are associated. Data from the National Health and Nutrition Examination Surveys (2001-2006, 2009-2012) were used in this cross-sectional study. The pure-tone average (PTA) was calculated for each ear at low speech frequencies of 0.5 to 4.0 kHz (LPTA) and higher frequencies of 3.0 to 8.0 kHz (HPTA). Hearing impairment was defined as >25 dB (LPTA/HPTA) and was further divided to “unilateral” and “bilateral.” A subsample of 2010 participants with normal tympanometry and otoscopic examinations was analyzed to determine sensorineural hearing loss. Multivariable weighted multinomial regressions were used to estimate the adjusted odds ratios (ORs) and 95% CIs. Overall, 3489 participants aged 50 years or older with mean age (mean ± SD) 61.5 ± 9.1 years were included in the final study sample, of those, 924 (21.8%) had VD deficiency (<20 ng/mL). Hearing impairment (bilateral and unilateral) was detected at 1648 (40.5%) participants at LPTA and 2589 (70.5%) participants at HPTA. In the multivariable models, VD deficiency was significantly associated with bilateral hearing impairment at the LPTA (OR, 1.45; 95% CI, 1.12-1.89) and with bilateral sensorineural hearing loss at the LPTA (OR, 1.60; 95% CI, 1.13-2.26) but such association was not observed at the HPTA (unilateral, P value = .274; bilateral, P value = .423). In conclusion, VD may have a significant role in the human auditory system, where its deficiency might affect both ears in particular the inner ears where the sensorineural hearing loss occurs.

Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24.

NARS2 catalyzes the attachment of asparagine amino acids to mitochondrial tRNAAsn and is critical for efficient mitochondrial protein synthesis. Biallelic variants in NARS2 are associated with combined oxidative phosphorylation deficiency 24 (COXPD24) and autosomal recessive deafness-94. Patient information was obtained after recruitment. Genetic tests were performed using whole exome sequencing (WES) and Sanger sequencing. Structure prediction was based on the RaptorX and SWISS-MODEL platforms. The mRNA analysis of paternal variant was performed. Expression levels and dimerization of wild-type (WT) and mutant NARS2 were detected in human embryonic kidney (HEK) 293T cells. Mitochondrial localization of NARS2 variants was determined using immunofluorescence staining. The patient presented early onset generalized epilepsy, myoclonic seizures, severe bilateral hearing impairment and affected liver and heart. WES identified two compound heterozygous variants in NARS2: c.1141A>G/p.Asn381Asp and c.1290G>C/p.Trp430Cys. In silico analysis predicted that both variants would cause significant and pathogenic changes in secondary structure. NARS2 c.1290G>C is a variant at the first nucleotide of an exon, a location thought to affect mRNA splicing. Although transcriptional experiments did not identify aberrant splicing, we observed a lower proportion of transcripts from the NARS2 c.1290G>C variant. An in vitro experiment showed that both variants impaired NARS2 expression, while mitochondrial localization and dimerization remained unaffected. The patient was diagnosed with COXPD24 caused by novel NARS2 variations. The cardiac dysfunction is identified for the first time. In vitro study revealed impairment of variants on NARS2 expression. These data enrich our knowledge regarding the phenotypic and genotypic spectra of NARS2.

Cognition and Cognitive Reserve in Cochlear Implant Recipients.

At present, dementia is a hot topic. Hearing loss is considered to be a modifiable risk factor for cognitive decline. The underlying mechanism remains unclear and might be mediated by socioeconomic and psychosocial factors. Cochlear implantation has been shown not only to restore auditory abilities, but also to decrease mental distress and to improve cognitive functions in people with severe hearing impairment. However, the promising results need to be confirmed. In a prospective single-center study, we tested the neurocognitive abilities of a large group of 71 subjects with bilateral severe hearing impairment with a mean age of 66.03 (SD = 9.15) preoperatively and 6, 12, and 24 months after cochlear implantation using a comprehensive non-auditory computer-based test battery, and we also assessed the cognitive reserve (CR) [Cognitive Reserve Index (CRI)], health-related quality of life (QoL) (Nijmegen Cochlear Implant Questionnaire), and depression (Geriatric Depression Scale-15). Cognitive functions significantly increased after 6 months in attention (p = 0.00004), working memory (operation span task; p = 0.002), and inhibition (p = 0.0002); and after 12 months in recall (p = 0.003) and verbal fluency (p = 0.0048), and remained stable up to 24 months (p ≥ 0.06). The CR positively correlated with cognitive functions pre- and post-operatively (both p < 0.005), but postoperative improvement in cognition was better in subjects with poor CR (p = 0.003). Depression had only a slight influence on one subtest. No correlation was found among cognitive skills, quality of life, and speech perception (each p ≥ 0.05). Cochlear implantation creates an enriched environment stimulating the plasticity of the brain with a global positive impact on neurocognitive functions, especially in subjects with poor preoperative cognitive performance and low cognitive reserve.

High-Risk Neighborhoods and Neurodevelopmental Outcomes in Infants Born Preterm

To study the association between neighborhood risk and moderate to severe neurodevelopmental impairment (NDI) at 22-26months corrected age in children born at <34weeks of gestation. We hypothesized that infants born preterm living in high-risk neighborhoods would have a greater risk of NDI and cognitive, motor, and language delays. We studied a retrospective cohort of 1291 infants born preterm between 2005 and 2016, excluding infants with congenital anomalies. NDI was defined as any one of the following: a Bayley Scales of Infant and Toddler Development-III Cognitive or Motor composite score <85, bilateral blindness, bilateral hearing impairment, or moderate-severe cerebral palsy. Maternal addresses were geocoded to identify census block groups and create high-risk versus low-risk neighborhood groups. Bivariate and regression analyses were run to assess the impact of neighborhood risk on outcomes. Infants from high-risk (n=538; 42%) and low-risk (n=753; 58%) neighborhoods were compared. In bivariate analyses, the risk of NDI and cognitive, motor, and language delays was greater in high-risk neighborhoods. Inadjusted regression models, the risks of NDI (OR, 1.43; 95% CI, 1.04-1.98), cognitive delay (OR, 1.62; 95% CI, 1.15-2.28), and language delay (OR, 1.58; 95% CI, 1.15-2.16) were greater in high-risk neighborhoods. Breast milk at discharge was more common in low-risk neighborhoods and was protective of NDI in regression analysis. High neighborhood risk provides an independent contribution to preterm adverse NDI, cognitive, and language outcomes. In addition, breast milk at discharge was protective. Knowledge of neighborhood risk may inform the targeted implementation of programs for socially disadvantaged infants.

Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis.

Hyperphosphatemic familial tumoral calcinosis (HFTC) presents with varied neurological manifestations that have been reported in the literature like facial palsy, vision and hearing impairment, stroke, and headache. In this article, we reported a 12-year-old girl child patient with recurrent facial weakness with bilateral hearing impairment and multiple ulcerative lesions on lower limbs and elbows. On examination, she had lower motor neuron (LMN) facial palsy with conductive hearing loss. The investigations showed hyperphosphatemia (9.3 mg/dL) with normal serum calcium (10.4 mg/dL), alkaline phosphatase (147.9 U/L), parathyroid hormone (23.12 pg/mL), and renal function tests. Elevated serum calcium and phosphorus product (96.72 mg 2 /mL 2 ) and elevated renal tubular reabsorption of phosphate (TMPxGFR) value (9.16) were noted. Skeletal survey showed hyperostosis in the long bone diaphysis, vertebrae, ribs, pelvic bone, skull, and facial bones with narrowing of cranial ostium, characteristically without any peri-articular soft tissue calcifications. An angiogram showed multiple intravascular calcifications. She was managed with a low-phosphate diet, sevelamer, niacinamide, acetazolamide, sucroferric oxyhydroxide to lower serum phosphate level, and topical sodium thiosulfate ectopic cutaneous calcification. Exome sequencing showed novel homozygous inframe deletion of ACG in FGF23 gene exon 3 at c.374_376 delins position (p. Asp125del) in the proband and a mutation in the heterozygous state in the mother and elder sibling, thus confirming a molecular diagnosis of HFTC. Our case had a unique neurological presentation of recurrent bilateral lower motor nerve facial palsy, hearing loss, multiple ectopic cutaneous calcifications without peri-articular deposits, multiple intravascular, intracranial, and vertebral endplate calcification, which has not been reported earlier. The proband showed a novel pathogenic variant suggesting an expanding phenotype of HFTC.

Effect of structured yoga program on functional balance, flexibility, and emotional status in students with bilateral sensorineural hearing impairment

Background: Children with bilateral sensorineural hearing impairment (SNHI) face various physiological, psychological, and sociological complications that require attention. The objective of the current study was to analyze the effect of a 1-month structured yoga program on functional balance, flexibility, and emotional status of the students with bilateral SNHI. Materials and Methods: The study was conducted as a controlled pre–post experimental method. Forty (n = 40) bilateral sensorineural hearing-impaired students (moderate–profound range) of ages 8–16 years were randomly divided into two equal groups, i.e., experimental and control. A one-hour structured yoga module was provided to the experimental group as an intervention for 30 days, while the control group followed a routine lifestyle. Outcome Measures: Static balance (SB) was assessed by single-leg stance test, dynamic balance (DB) by functional reach test, flexibility by sit and reach test, emotional status by Positive Affect and Negative Affect Scale (PANAS), and Self-Esteem recorded by Rosenberg Self-Esteem Scale. Results: The results revealed a significant improvement (P < 0.001) in physical parameters such as SB on the right leg, SB on the left leg, DB, and lumbar flexibility in the experimental group. Additionally, psychosocial parameters such as positive emotions, negative emotions, and self-esteem showed significant improvement in the experimental group. However, no significant change in any of the study parameters was observed in the control group (P > 0.05). Conclusion: These findings provide substantial evidence that a 1-month structured yoga program was an efficient method to improve the functional balance, flexibility, and emotional status in the students with bilateral SNHI.

Bilateral Sudden Sensorineural Hearing Loss (SSNHL) Following Lumbar Puncture: A Case Report

Abstract Sudden sensorineural hearing loss affects frequently one ear (unilateral). A bilateral sudden SNHL is the rare form of SSNHL (5% of all cases) having mostly as aetiology diseases with a specific clinical pathology. Many case reports of a bilateral SSNHL in the literature include not only adult populations but also paediatric cases. A bilateral SSNHL following a lumbar puncture belongs to the rarest iatrogenic complications and it is an uncommon aetiology causing transient or permanent unilateral or bilateral hearing impairments. We report a case of a 83-year-old woman who developed on her chronic hearing loss a bilateral SSNHL after lumbar puncture and we discuss this case reviewing the current literature.

Results of a 10-year hearing screening using automated auditory brainstem response in newborns: The two-step AABR method

ObjectivesApproximately 1–6 in every 1000 children are born with hearing loss. An automated auditory brainstem response (AABR) test is essential for screening newborns for abnormal hearing. At the tertiary hospital, we have been using a two-step AABR protocol for newborn hearing assessment since 2005. This study aimed to report the 10-year hearing screening results of newborns at the institution, and prove the efficacy of the two-step AABR protocol. MethodsFrom August 2005 to January 2015, 3059 newborns were screened through AABR testing using the MASTER ABaer system. The first screening test was performed after the first 24 h of life. If a newborn was referred, the test was performed within 1 month after discharge from the hospital. The results were regarded as pass when the point optimized variance ratio was >3.5, using a stimulus level of 35 dB HL. When newborns were referred for the second AABR, they received follow-up tests including tympanometry, ABR, auditory steady-state response, and otoacoustic emission within 3 months. ResultsA total of 3059 newborns underwent newborn hearing screening tests over a period of 10 years. One hundred and twenty (3.9%) newborns were referred with the initial AABR, and 104 (3.4%) were referred with a subsequent AABR. Of the newborns, 42 (1.37%) were confirmed to have a bilateral hearing impairment. ConclusionsIt is known that the referral rate for the AABR test is 3–4%, as recommended by the Joint Committee on Infant Hearing. Our data showed a referral rate of 3.4%. The two-step AABR test has been useful for screening hearing loss in newborns at tertiary hospital.

Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia

To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member. The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant. The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.

Bilateral Sudden Sensorineural Hearing Loss Associated with Sepsis: A Case Report and Literature Review

Bilateral sudden sensorineural hearing loss (SSNHL) is rare and usually indicates a serious systemic pathology. We describe an unusual case of bilateral SSNHL caused by sepsis. A 28-year-old female complained of acute-onset bilateral hearing impairment; in addition to otological symptoms, she had a systemic condition that met the criteria for sepsis. We performed a physical examination and laboratory tests to diagnose sepsis. Pure tone audiogram and videonystagmography were performed to evaluate the otological symptoms. Intravenous antibiotics and high-dose methylprednisolone were prescribed for treatment, and audiogram was repeated during that period. The fever subsided and the vital signs were stabilized. The electrolyte imbalance and abnormal urine parameters became normal. Hearing gradually recovered to a normal level on day 7 of hospitalization. In conclusion, sepsis should be considered as a cause of SSNHL. When conducting a detailed examination of patients with bilateral SSNHL, the clinician should consider systemic disease.

Binaural Signal Processing in Hearing Aids.

For many years, clinicians have understood the advantages of listening with two ears compared with one. In addition to improved speech intelligibility in quiet, noisy, and reverberant environments, binaural versus monaural listening improves perceived sound quality and decreases the effort listeners must expend to understand a target voice of interest or to monitor a multitude of potential target voices. For most individuals with bilateral hearing impairment, the body of evidence collected across decades of research has also found that the provision of two compared with one hearing aid yields significant benefit for the user. This article briefly summarizes the major advantages of binaural compared with monaural hearing, followed by a detailed description of the related technological advances in modern hearing aids. Aspects related to the communication and exchange of data between the left and right hearing aids are discussed together with typical algorithmic approaches implemented in modern hearing aids.

Improvement of Working Memory and Processing Speed in Patients over 70 with Bilateral Hearing Impairment Following Unilateral Cochlear Implantation.

Several studies demonstrated the association of hearing disorders with neurocognitive deficits and dementia disorders, but little is known about the effects of auditory rehabilitation on the cognitive performance of the elderly. Therefore, the research question of the present study was whether cochlear implantation, performed in 21 patients over 70 with bilateral severe hearing impairment, could influence their cognitive skills. The measuring points were before implantation and 12 months after the first cochlear implant (CI) fitting. Evaluation of the working memory (WMI) and processing speed (PSI) was performed using the Wechsler Adult Intelligence Scale 4th edition (WAIS-IV). The audiological assessment included speech perception (SP) in quiet (Freiburg monosyllabic test; FMT), noise (Oldenburg sentence test; OLSA), and self-assessment inventory (Oldenburg Inventory; OI). Twelve months after the first CI fitting, not only the auditory parameters (SP and OI), but also the WMI and PSI, improved significantly (p < 0.05) in the cohort. The presented results imply that cochlear implantation of bilaterally hearing-impaired patients over 70 positively influences their cognitive skills.

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome

The SRY-related HMG box gene 10 (SOX10), located on 22q13.1, encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate and differentiation. SOX10 is one of the six causal genes for Waardenburg syndrome, which is a dominantly inherited auditory-pigmentary disorder characterized by sensorineural hearing impairment and abnormal pigmentation of the hair, skin and iris. Waardenburg syndrome is categorized into four subtypes based on clinical features (WS1-WS4). Here we present eight families (eleven patients) harboring pathogenic variants in SOX10. The patients displayed both allelic and clinical variability: bilateral profound hearing impairment (11/11), malformations of the semicircular canals (5/11), motor skill developmental delay (5/11), pigmentary defects (3/11) and Hirschsprung's disease (3/11) were some of the clinical manifestations observed. The patients demonstrate a spectrum of pathogenic SOX10 variants, of which six were novel (c.267del, c.299_300insA, c.335T >C, c.366_376del, c.1160_1179dup, and exon 3–4 deletion), and two were previously reported (c.336G>A and c.422T>C). Six of the variants occurred de novo whereas two were dominantly inherited. The pathogenic SOX10 variants presented here add novel information to the allelic variability of Waardenburg syndrome and illustrate the considerable clinical heterogeneity.

Assessment of hearing screening programmes across 47 countries or regions II: coverage, referral, follow-up and detection rates from newborn hearing screening

Objectives To assess the performance of newborn hearing screening (NHS) programmes, through selected quality measures and their relationship to protocol design. Design NHS coverage, referral, follow-up and detection rates were aggregated. Referral rates were compared to age at screening step 1, number of steps, and test method: OAE or aABR. Study sample A questionnaire on existing hearing screening was completed by experts from countries in Europe, plus Russia, Malawi, Rwanda, India and China. Results Out of 47 countries or regions, NHS coverage rates were reported from 26, referral rates from 23, follow up from 12 and detection rates from 13. Median coverage rate for step 1 was 96%. Referral rate from step 1 was 6–22% where screening may be performed <24 h from birth, 2–15% for >24 h, and 4% for >72 h. Referral rates to diagnostic assessment averaged 2.1% after one to two steps using OAE only, 1.7% after two steps including aABR, and 0.8% after three to four steps including aABR. Median detection rate for bilateral permanent hearing impairment ≥40dB was 1 per 1000 infants. Conclusion Referral rates were related to age, test method and number of screening steps. Quality measures were not available for many NHS programmes.