Multiple synostoses syndrome: Clinical report and retrospective analysis.

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.

Association of rheumatoid arthritis with hearing loss: a systematic review and meta-analysis.

Rheumatoid arthritis (RA) is a systemic autoimmune disease affecting up to 1% of the worldwide population. RA is associated with multiple extra-articular manifestations (EAMs). Middle ear, cochlea and the auditory nerve are suspected sites of RA activity and hearing loss is a possible novel EAM of RA. Objective was to investigate the association of RA with the different subtypes of hearing loss. This systematic review was performed according to the PRISMA guidelines. A random effects model meta-analysis was conducted and the I2 was used to assess heterogeneity. Twelve studies comprising 20,022 RA patients and 79,244 controls were included in this systematic review. All studies were observational and were rated to a moderate rate of bias. RA patients had nearly fourfold increased odds of sensorineural hearing loss (SNHL) compared with controls (OR 3.42; 95% CI 2.50-4.69; I2 = 13). RA patients also had a significantly increased risk of SNHL (RR 2.28; 95% CI 1.88-2.76; I2 = 0). RA patients did not have increased odds of conductive hearing loss (CHL) and mixed hearing loss (MHL) (OR 1.36; 95% CI 0.52-3.55; I2 = 22); (OR 2.73; 95% CI 0.78-9.58; I2 = 0%). RA is significantly associated with SNHL. RA is not associated with CHL and MHL. Early screening of RA patients with pure tone audiometry should be considered.

Renal Syndromic Hearing Loss Is Common in Childhood-onset Chronic Kidney Disease.

BACKGROUND: Hearing loss (HL) in children may adversely affect their development. HL is more prevalent in patients with chronic kidney disease (CKD) than in the general population. This study evaluated the prevalence of HL and its underlying diseases in patients with childhood-onset in CKD. METHODS: In this retrospective study of a tertiary referral center, childhood-onset CKD patients (stage 2-5, age at onset of renal symptom < 18 years) were recruited. We referred to the "renal" syndromic HL as cases with genetic or syndromic diseases, or extra-renal anomalies in addition to HL and CKD. RESULTS: A total of 421 patients (male:female = 279:142) were reviewed according to the causes of CKD: congenital anomalies of the kidney and urinary tract (CAKUT; n = 184, 43.7%), glomerulopathies (GP; n = 105, 24.9%), cystic kidney diseases (CYST; n = 39, 9.3%), perinatal problems (PP; n = 29, 6.9%), and others (n = 64, 15.2%). HL was detected in 82 (19.5%) patients, including 51 (12.1%) patients with sensorineural hearing loss (SNHL), 30 (7.1%) with conductive hearing loss (CHL), and 1 patient with mixed HL. The prevalence of HL in each group was as follows: 16.8% in the CAKUT group, 28.6% in the GP group, 12.8% in the CYST group, 24.1% in the PP group, and 14.1% in the others group. HL was more common in higher CKD stages, especially CHL in end-stage renal disease. SNHL was more prevalent in CKD from GP. Of the 82 patients with HL, 50% had renal syndromic HL: 58.8% of SNHL and one-third of CHL were renal syndromic HL. CONCLUSION: One-fifth of the childhood-onset CKD had HL. Collectively, renal syndromic HL comprised half of the HL in this study. To improve the quality of life in patients with childhood-onset CKD, we suggest that HL should be considered, requiring surveillance, and if necessary, early intervention.

Malformations of the lateral semicircular canal correlated with data from the audiogram.

OBJECTIVES: Lateral semicircular canal (LSCC) malformations  are one of the most common inner ear malformations. The purpose of this study is to analyze the prevalence and type of hearing losses associated with LSCC malformations, compared to a control group. MATERIALS AND METHODS: We retrospectively included 109 patients (166 ears) presenting with a CT-confirmed LSCC malformation, compared to a control group (24 patients). The bony island surface and the width of the inner portion of the LSCC were measured to confirm the malformation. There results were correlated to audiogram data: sensorineural (SHNL), mixed (MHL) or conductive hearing loss (CHL) by an otologist. RESULTS: In the LSCC group, 60.9% of patients presented with an audiogram-confirmed hearing loss, especially SNHL (39.2%, n = 65) and MHL (12.7%, n = 21). Hearing was normal in 39.2% (n = 65) of the cases. Bilateral LSCC malformations (n = 57) were frequently associated with hearing loss (80.7%), SNHL in most of the cases (33.3%). Unilateral LSCC malformations were associated with hearing alterations (51.9%, n = 27), but we also observed a high rate (81%, n = 42) of contralateral abnormalities of the audiogram. CONCLUSION: LSCC malformations are commonly associated with hearing loss (61%), especially SHNL (39%). The high rate (81%) of contralateral hearing disturbances in unilateral LSCC malformations should be taken into account in the patient's daily life to avoid triggering or exacerbating any hearing loss. Otologists and radiologists must cooperate to ensure that all malformations are correctly described on CT, especially to improve the patient's education regarding hearing preservation.

Prevalence of Hearing Loss Among a Representative Sample of Canadian Children and Adolescents, 3 to 19 Years of Age.

OBJECTIVES: There are no nationally representative hearing loss (HL) prevalence data available for Canadian youth using direct measurements. The present study objectives were to estimate national prevalence of HL using audiometric pure-tone thresholds (0.5 to 8 kHz) and or distortion product otoacoustic emissions (DPOAEs) for children and adolescents, aged 3 to 19 years. DESIGN: This cross-sectional population-based study presents findings from the 2012/2013 Canadian Health Measures Survey, entailing an in-person household interview and hearing measurements conducted in a mobile examination clinic. The initial study sample included 2591 participants, aged 3 to 19 years, representing 6.5 million Canadians (3.3 million males). After exclusions, subsamples consisted of 2434 participants, aged 3 to 19 years and 1879 participants, aged 6 to 19 years, with valid audiometric results. Eligible participants underwent otoscopic examination, tympanometry, DPOAE, and audiometry. HL was defined as a pure-tone average >20 dB for 6- to 18-year olds and ≥26 dB for 19-year olds, for one or more of the following: four-frequency (0.5, 1, 2, and 4 kHz) pure-tone average, high-frequency (3, 4, 6, and 8 kHz) pure-tone average, and low-frequency (0.5, 1, and 2 kHz) pure-tone average. Mild HL was defined as >20 to 40 dB (6- to 18-year olds) and ≥26 to 40 dB (19-year olds). Moderate or worse HL was defined as >40 dB (6- to 19-year olds). HL in 3- to 5-year olds (n = 555) was defined as absent DPOAEs as audiometry was not conducted. Self-reported HL was evaluated using the Health Utilities Index Mark 3 hearing questions. RESULTS: The primary study outcome indicates that 7.7% of Canadian youth, aged 6 to 19, had any HL, for one or more pure-tone average. Four-frequency pure-tone average and high-frequency pure-tone average HL prevalence was 4.7 and 6.0%, respectively, whereas 5.8% had a low-frequency pure-tone average HL. Significantly more children/adolescents had unilateral HL. Mild HL was significantly more common than moderate or worse HL for each pure-tone average. Among Canadians, aged 6 to 19, less than 2.2% had sensorineural HL. Among Canadians, aged 3 to 19, less than 3.5% had conductive HL. Absent DPOAEs were found in 7.1% of 3- to 5-year olds, and in 3.4% of 6- to 19-year olds. Among participants eligible for the hearing evaluation and excluding missing data cases (n = 2575), 17.0% had excessive or impacted pus/wax in one or both ears. Self-reported HL in Canadians, aged 6 to 19, was 0.6 E% and 65.3% (aged 3 to 19) reported never having had their hearing tested. E indicates that a high sampling variability is associated with the estimate (coefficient of variation between 16.6% and 33.3%) and should be interpreted with caution. CONCLUSIONS: This study provides the first estimates of audiometrically measured HL prevalence among Canadian children and adolescents. A larger proportion of youth have measured HL than was previously reported using self-report surveys, indicating that screening using self-report or proxy may not be effective in identifying individuals with mild HL. Results may underestimate the true prevalence of HL due to the large number excluded and the presentation of impacted or excessive earwax or pus, precluding an accurate or complete hearing evaluation. The majority of 3- to 5-year olds with absent DPOAEs likely had conductive HL. Nonetheless, this type of HL which can be asymptomatic, may become permanent if left untreated. Future research will benefit from analyses, which includes the slight HL category, for which there is growing support, and from studies that identify factors contributing to HL in this population.

Progressive Hearing Loss in Early Childhood.

OBJECTIVES: Deterioration in hearing thresholds in children is of concern due to the effect on language development. Before universal newborn hearing screening (UNHS), accurate information on the progression of hearing loss was difficult to obtain due to limited information on hearing loss onset. The objective of this population-based study was to document the proportion of children who experienced progressive loss in a cohort followed through a UNHS program in one region of Canada. We explored risk factors for progression including risk indicators, audiologic, and clinical characteristics of children. We also investigated deterioration in hearing as a function of age. For this study, two working definitions of progressive hearing loss were adopted: (1) a change of ≥20 dB in the 3 frequencies (500, 1000, and 2000 Hz) pure-tone average, and (2) a decrease of ≥10 dB at two or more adjacent frequencies between 500 and 4000 Hz or a decrease in 15 dB at one octave frequency in the same frequency range. DESIGN: Population-based data were collected prospectively on a cohort of children identified from 2003 to 2013 after the implementation of UNHS. Clinical characteristics including risk indicators (as per Joint Committee on Infant Hearing), age at diagnosis, type and severity of hearing loss, and initial audiologic information were recorded when children were first identified with hearing loss. Serial audiometric results were extracted from the medical charts for this study. Differences between children with progressive and stable hearing loss were explored using χ tests. Association between risk indicators and progressive hearing loss was assessed through logistic regression. The cumulative amount of deterioration in hearing from 1 to 4 years of age was also examined. RESULTS: Our analysis of 330 children (251 exposed to screening) with detailed audiologic records showed that 158 (47.9%) children had some deterioration (at least ≥10 dB and) in hearing thresholds in at least one ear. The 158 children included 76 (48.1%) with ≥20 dB loss in pure-tone average in at least one ear and 82 (51.9%) with less deterioration in hearing levels (≥10 but <20 dB). In the children with progressive hearing loss, of 131 children initially diagnosed with bilateral loss, 75 (57.3%) experienced deterioration in 1 ear and 56 (112 ears; 42.7%) in both ears (total of 187 ears). Of 27 children with an initial diagnosis of unilateral loss, 25 experienced deterioration in the impaired ear and 5 in the normal-hearing ear, progressing to bilateral hearing loss. Within 4 years after diagnosis, the mean decrease in hearing for children with progressive loss was 25.9 dB (SD: 16.4) in the right ear and 28.3 dB (SD: 12.9) in the left ear. We explored the risk factors for hearing loss identified by Joint Committee on Infant Hearing where there were sufficient numbers in our sample. On multivariate analysis, there was no statistically significant relationship between most risk indicators examined (neonatal intensive care unit admission, family history, syndromes, and postnatal infections) and the likelihood of progressive loss. However, the presence of craniofacial anomalies was inversely associated with risk of progressive hearing loss (odds ratio = 0.27; 95% confidence interval: 0.10, 0.71; p = 0.01), that is, these children were more likely to have stable hearing. CONCLUSIONS: Given that almost half of the children in this cohort experienced deterioration in hearing, close postneonatal monitoring of hearing following early hearing loss identification is essential to ensure optimal amplification and therapy.

Stapes surgery: a National Survey of British Otologists.

To investigate individual stapes surgery practice in the UK, a retrospective study was conducted by postal questionnaire to all 'assumed' stapes-performing otologists. 225 questionnaires were sent out to practicing otologists in the UK. 184 replies (81.8 %) indicated that 134 (72.9 %) otologists perform stapes surgery [stapedectomy (8.2 %), stapedotomy (91.0 %) or other (0.8 %)]. The '6-10 stapes operation per year' category is the most common, with most using general anaesthetic (GA) (78.3 %). Unilateral surgery is advised in 89.6 %, and 96.3 % perform second-side surgery, with all advising the option of a hearing aid prior to surgery. The majority (88.1 %) would fit the prosthesis after removing the stapes, with the top three prostheses being Causse, Smart and Teflon (as described by respondents). 42.5 % always use a vein graft or fat to cover the fenestration, 9.3 % use a laser and 48.5 % carry out the surgery as a day case. For an overhanging facial nerve (less than 50 % of the footplate obscured), the majority stated that it would depend whether they would abandon surgery. 25.4 % have encountered a 'gusher' and 83.6 % would recommend revision surgery. 82.8 % have a registrar present when carrying out stapes operations, but 69.4 % only offer training to trainees with an otological interest. In the UK, stapedotomy is the preferred technique. Most prefer the Causse prosthesis, general anaesthesia and an inpatient stay. Hearing aids are advised prior to surgery. Day-case and inpatient practice is about equal. 'Gushers' are encountered rarely. Revision surgery is advised if a conductive loss returns. Flying is recommended from 6 weeks. Most otologists are willing to teach trainees with an otological interest.

Incidence and relative risk of hearing disorders in professional musicians.

BACKGROUND: Hearing disorders have been associated with occupational exposure to music. Musicians may benefit from non-amplified and low-intensity music, but may also have high risks of music-induced hearing loss. AIMS: To compare the incidence of hearing loss (HL) and its subentities in professional musicians with that in the general population. METHODS: We performed a historical cohort study among insurants between 19 and 66 years who were employed subject to social insurance contributions. The study was conducted with data from three German statutory health insurance providers covering the years 2004-2008 with about 7 million insurants. Incidence rates with 95% CIs of HL and the subentities noise-induced hearing loss (NIHL), conductive HL, sensorineural HL, conductive and sensorineural HL, as well as tinnitus were estimated stratified by age, sex and federal state. A Cox regression analysis was conducted to estimate adjusted HRs and two-sided 95% CIs for HL and its subentities. RESULTS: More than 3 million insurants were eligible, of whom 2227 were identified as professional musicians (0.07%). During the 4-year observation period, 283,697 cases of HL were seen, 238 of them among professional musicians (0.08%), leading to an unadjusted incidence rate ratio of 1.27. The adjusted hazard ratio of musicians was 1.45 (95% CI 1.28 to 1.65) for HL and 3.61 (95% CI 1.81 to 7.20) for NIHL. CONCLUSIONS: Professional musicians have a high risk of contracting hearing disorders. Use of already available prevention measures should reduce the incidence of HL in professional musicians.

A cross-sectional analysis of otitis media with effusion in children with Down syndrome.

UNLABELLED: Children with Down syndrome are at risk to develop otitis media with effusion (OME). We performed a retrospective and cross-sectional analysis to evaluate the prevalence of OME in children with Down syndrome (DS) for consecutive age categories between 6 months and 12 years. Clinical and audiometric data were available for 107 children followed in a multidisciplinary Down team. A high prevalence of OME was found at the age of 1 year (66.7 %), with a second peak prevalence of 60 % at 6-7 years. A declining trend was observed in children ≥8 years. Overall, 52.3 % of DS children had either OME or ventilation tubes at the time of evaluation. Hearing thresholds were significantly higher in children with bilateral OME (median 36.7 decibel hearing level (dB HL), range 26.7-46.1) compared to those with at least one normally ventilated middle ear (median 28.3 dB HL, range 22.8-3.3), p = 0.013. CONCLUSION: We found a high prevalence of OME in children with Down syndrome, with a peak of ≥60 % around 1 and 6-7 years. A declining trend is seen in older children. Mild to moderate hearing loss was present in children with bilateral OME.

Conductive Hearing Loss Associates With Dementia, and Middle Ear Reconstruction Mitigates This Association: A Multinational Database Study.

OBJECTIVE: To test the hypothesis that conductive hearing loss (CHL) is associated with dementia, and that middle ear reconstruction (MER) associates with improved outcomes for these measures in a multinational electronic health records database. STUDY DESIGN: Retrospective cohort study with propensity-score matching (PSM). SETTING: TriNetX is a research database representing about 110 million patients from the United States, Taiwan, Brazil, and India. PATIENTS: Subjects older than 50 years with no HL and any CHL (ICD-10: H90.0-2). Subjects of any age with and without any MER (CPT: 1010174). MAIN OUTCOME MEASURES: Odds ratios (ORs) and hazard ratios with 95% confidence intervals (95% CIs) for incident dementia (ICD-10: F01, F03, G30). RESULTS: Of 103,609 patients older than 50 years experiencing any CHL, 2.74% developed dementia compared with 1.22% of 38,216,019 patients with no HL (OR, 95% CI: 2.29, 2.20-2.37). Of patients experiencing CHL, there were 39,850 who received MER. The average age was 31.3 years, with 51% female patients. A total of 343,876 control patients with CHL were identified; 39,900 patients remained in each cohort after 1:1 PSM for HL- and dementia-related risk factors. Matched risk for developing dementia among MER recipients was 0.33% compared with 0.58% in controls (OR: 0.58, 0.46-0.72). CONCLUSIONS: CHL increases the odds for dementia, and MER improves the odds for incident dementia. This study represents the first population study on the topic of CHL, MER, and dementia.

Characterization of hearing loss in pediatric patients with osteogenesis imperfecta.

INTRODUCTION: Osteogenesis imperfecta (OI) is a common heritable disorder affecting type 1 collagen. The sequelae of OI vary, but hearing loss is a significant complication with 46-58 % of patients having some degree of hearing loss. Previous studies have suggested patients with OI may have conductive, sensorineural, or mixed hearing loss. Majority of these studies focus on the adult population. OBJECTIVES: Identify a relationship between OI and hearing loss in the pediatric population. METHODS: The TriNetx Analytics Network, a federated health research network that aggregates the de-identified electronic health record data of over 78 million patients across the United States, was queried for patients 18 years old or younger with a diagnosis of OI. Patients in this group with diagnosis of sensorineural, conductive, or mixed hearing loss were recorded. Patients with diagnoses of congenital cytomegalovirus, congenital inner ear malformations, and noise-induced hearing loss were excluded from analysis. RESULTS: Out of 3256 patients 18 years old or younger with OI, 10.07 % (95 % CI: 9.06-11.16) had a history of any form of hearing loss, 5.71 % (95 % CI: 4.94-6.57) had conductive hearing loss, 3.01 % (95 % CI: 2.45-3.66) had sensorineural hearing loss, and 1.35 % (95 % CI: 0.98-1.81) had mixed hearing loss. Relative risks for diagnosis of any type of hearing loss, conductive hearing loss, sensorineural hearing loss, and mixed hearing loss were calculated: 5.90 (95 % CI 5.32-6.53), 5.08 (95 % CI 4.42-5.84), 6.18 (95 % CI 5.09-7.51), and 13.86 (95 % CI 10.33-18.59) respectively. DISCUSSION: This study is the largest to date that describes a relationship between OI and conductive, sensorineural, and mixed hearing loss. Pediatric patients with OI are almost five times as likely to have any type of hearing loss. There was a significant increased risk in each subgroup, but conductive hearing loss was the most common for hearing loss in children with OI. The highest risk subtype when compared to controls was mixed hearing loss.

Traumatic Tympanic Membrane Perforation in Children: A Descriptive Cross-sectional Study.

INTRODUCTION:   TTraumatic perforation of the tympanic membrane in pediatric population is often encountered in primary  otolaryngologic clinics or in the emergency department. The objective of the  study was to find out the clinical presentation of traumatic tympanic membrane perforation in the pediatric population. METHODS: A cross-sectional study was done from February, 2023 to February, 2024 after obtaining the ethical approval from the Institutional Review Board (2023/114). All the patients aged less than 18 years and presenting with traumatic tympanic membrane perforation were included in the study. Collected data was entered and analysed using Microsoft Excel. Patients were evaluated for demographics, mechanism of trauma and clinical characteristics of ear drum perforation in children. RESULTS: A total of 384 children aged less than 18 years were included in the study among which 267 (69.53%) were males. Physical assault 109 (28.39%) was the most common cause of tympanic membrane perforation. The most common symptom at the time of presentation was ear block/hearing loss 208 (54.16%). Conductive hearing loss was present in 214 (55.73%) children. CONCLUSION: Traumatic perforation of the tympanic membrane resulted mostly from the blunt force trauma especially in male children.

[Measurement of quality of life following stapes surgery]. / Lebensqualitätbewertung nach stapesoperationen.

BACKGROUND: The objectives of this study were to compare a German version of the Glasgow Benefit Inventory (GBI) with the original English version and to describe quality of life following stapes surgery. PATIENTS AND METHODS: Audiometry and a questionnaire on handicap in various listening situations were used to assess 36 patients with otosclerosis before and 6 months after stapes surgery. The GBI was used to estimate the change in quality of life following surgery. RESULTS: Postoperative air-bone gap closure was <10 dB in 71% of patients. The postoperative air conduction threshold was <30 dB in 48% of patients. Using the GBI, the mean benefit score was 28 and the general benefit score 42. The social support and physical health scores were both zero. Where the postoperative improvement in air conduction was >15 dB, a significant reduction in handicap in everyday life, watching TV, listening to the radio and making telephone calls was seen. CONCLUSIONS: The German version of the GBI showed an improvement in quality of life in various everyday situations following stapes surgery.

[Otitis media with effusion : frequency, diagnosis, and therapy in early childhood]. / Seromukotympanon : Häufigkeit, Diagnose und Therapie im frühen Kindesalter.

BACKGROUND: Otitis media with effusion (OME) as the most common cause of hearing loss in childhood plays an important role in the follow-up after failed newborn hearing screening (NHS). The introduction of the NHS allows OME to be diagnosed and treated in the first months of life. MATERIAL AND METHODS: In 715 children referred to the Department of Phoniatrics and Pedaudiology of the Ear, Nose, Throat University Hospital of Magdeburg during the period 2006-2010, the prevalence and therapy process of OME during follow-up could be determined. RESULTS: OME was diagnosed in 16 % of the patients. Spontaneous resolution was observed in 37 % of the cases, while 46 % of the children were treated surgically. A substantially increased risk for persistent OME was observed in children with craniofacial dysmorphia or cleft palate. CONCLUSION: Using NHS, OME can be diagnosed and treated early, thus, preventing potential problems in the linguistic, social and intellectual development of children.

Conductive hearing loss in newborns: Hearing profile, risk factors, and occasions of service.

OBJECTIVE: Infants diagnosed with a conductive hearing loss (CHL) are at increased risk of developmental delays. Using a sample of infants diagnosed with CHL through UNHS, this study aimed to investigate the relationship between specific demographic or clinical characteristics and 1) occasions of service to reach a hearing diagnosis and 2) the profile of CHL. METHODS: Retrospective analysis was conducted for all infants with CHL born between 01/01/2007 and 31/12/2018 who had received UNHS. Chi squared analysis was conducted on data from 1208 records. RESULTS: Infants with ≥1 risk factor for hearing loss were more likely to attend more than three occasions of service. Infants who were bilateral refer/medical exclusion, Torres Strait Islander, had ≥1 risk factors for hearing loss or were born pre-term had greater proportions of bilateral CHL than unilateral CHL. Mild to moderate was the most frequent degree of CHL, although a unilateral or bilateral CHL did not have an association with the severity of CHL. Compared to other risk factors, infants with a syndrome had greater proportions of bilateral than unilateral CHL. Risk factors of craniofacial abnormality, prolonged ventilation, or syndrome had greater proportions of mild to moderate CHL than moderate or greater. On average, infants were diagnosed with a CHL at 37.29 weeks of age. CONCLUSION: These findings highlight the relationship between clinical/demographic characteristics and occasions of service to diagnose CHL in children, including the CHL profile. An understanding of this relationship may help clinicians to better plan, assess and manage infants diagnosed with a CHL through UNHS.

Pathophysiological and Clinical Aspects of Hearing Loss Among 85-Year-Olds.

PURPOSE: This study aimed to identify the prevalence of conductive/mixed and sensorineural hearing loss, with an attempt to differentiate between sensory and neural components in 85-year-olds. METHOD: A comprehensive auditory test protocol, including pure-tone audiometry, speech audiometry, auditory brainstem response (ABR), and distortion product otoacoustic emission (DPOAE), was used to identify different types of hearing loss in 85-year-olds. This study comprised a subsample (n = 125) selected from an unscreened cohort of 85-year-olds born in 1930, within the Gothenburg H70 Birth Cohort Studies in Sweden. RESULTS: Test results were reported descriptively. Sensorineural hearing loss was present in one or both ears in almost all participants (98%), and the majority had absent DPOAEs. Only approximately 6% had additional conductive hearing loss, that is, mixed hearing loss. Approximately 20% of the participants with a pure-tone average at 0.5-4 kHz < 60 dB HL had worse word recognition scores compared with predicted scores by the Speech Intelligibility Index (SII), whereas only two participants were classified with neural dysfunction with the use of ABR. CONCLUSIONS: Sensorineural hearing loss, likely related to outer hair cell loss, was present in the vast majority of 85-year-olds. Conductive/mixed hearing loss appears to be relatively rare in advanced age. Poor word recognition scores in relation to SII-predicted scores were relatively common (20%) in 85-year-olds, whereas auditory neuropathy was only rarely identified (1.6%) by the use of ABR latencies. To explain abnormal word recognition and to identify the neural component of hearing loss among the older-old population, future research should consider factors such as listening effort and cognition among the older-old population.

Inner ear anomalies seen on CT images in people with Down syndrome.

BACKGROUND: Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. OBJECTIVE: To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. MATERIALS AND METHODS: The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). RESULTS: Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. CONCLUSION: Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome.

Conductive hearing loss and middle ear pathology in young infants referred through a newborn universal hearing screening program in Australia.

BACKGROUND: Although newborn hearing screening programs have been introduced in most states in Australia, the prevalence of conductive hearing loss and middle ear pathology in the infants referred through these programs is not known. PURPOSE: This study was designed to (1) evaluate the prevalence of conductive hearing loss and middle ear pathology in infants referred by a newborn hearing screening program in north Queensland, (2) compare prevalence rates of conductive hearing loss and middle ear pathology in indigenous and nonindigenous infants, and (3) review the outcomes of those infants diagnosed with conductive hearing loss and middle ear pathology. RESEARCH DESIGN: Retrospective chart review of infants referred to the Audiology Department of The Townsville Hospital was conducted. STUDY SAMPLE: Chart review of 234 infants referred for one or both ears from a newborn hearing screening program in north Queensland was conducted. A total of 211 infants attended the diagnostic appointment. Review appointments to monitor hearing status were completed for 46 infants with middle ear pathology or conductive hearing loss. DATA COLLECTION AND ANALYSIS: Diagnosis of hearing impairment was made using an age-appropriate battery of audiological tests. Results were analyzed for both initial and review appointments. RESULTS: Mean age at initial diagnostic assessment was 47.5 days (SD = 31.3). Of the 69 infants with middle ear pathology during initial diagnostic assessment, 18 had middle ear pathology with normal hearing, 47 had conductive hearing loss, and 4 had mixed hearing loss. Prevalence of conductive hearing loss in the newborns was 2.97 per 1,000 while prevalence of middle ear pathology (with or without conductive hearing loss) was 4.36 per 1,000. Indigenous Australians or Aboriginal and Torres Strait Islander (ATSI) infants had a significantly higher prevalence of conductive hearing loss and middle ear pathology than non-ATSI infants (35.19 and 44.45% vs 17.83 and 28.66%, respectively). ATSI infants also showed poor resolution of conductive hearing loss over time with 66.67% of ATSI infants reviewed showing persistent conductive hearing loss compared to 17.86% of non-ATSI infants. Medical management of 17 infants with persistent conductive hearing loss included monitoring, antibiotic treatment, examination under anesthesia, and grommet insertion. CONCLUSIONS: Conductive hearing loss was found to be a common diagnosis among infants referred through screening. ATSI infants had significantly higher rates of middle ear pathology and conductive hearing loss at birth and showed poor resolution of middle ear pathology over time compared to non-ATSI infants. Future research using a direct measure of middle ear function as an adjunct to the automated auditory brainstem response screening tool to distinguish conductive from sensorineural hearing loss may facilitate prioritization of infants for assessment, thus reducing parental anxiety and streamlining the management strategies for the respective types of hearing loss.

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review.

The aim of this systematic review was to review the literature on hearing impairment and ear anomalies in patients with craniofacial microsomia and to determine their prevalence. Sixty-two records including 5122 patients were included. Ear anomalies were present in 52-100% of patients. The most reported external ear malformations were microtia, pre-auricular tags, and atresia of the external auditory canal. Ossicular anomalies were the most reported middle ear malformations, whereas the most reported inner ear malformations included oval window anomalies, cochlear anomalies, and anomalies of the semicircular canals. Hearing loss in general was reported in 29-100% of patients, which comprised conductive hearing loss, mixed hearing loss, and sensorineural hearing loss. Between 21% and 51% of patients used hearing aids, and 58% underwent a surgical intervention to improve hearing. The relationship between different phenotypes of craniofacial microsomia and the type and severity of hearing loss is mostly unclear. In conclusion, the high prevalence of ear and hearing anomalies in patients with craniofacial microsomia underlines the importance of audiological screening in order to facilitate individual treatment.

Clinical characteristics of infants identified with a conductive hearing loss through universal newborn hearing screening: A population-based sample.

BACKGROUND: Universal Newborn Hearing Screening (UNHS) aims to identify infants born with a permanent hearing loss. However, many are also diagnosed with a conductive hearing loss (CHL) and are at subsequent risk for developmental delays. The aim of this study was to investigate the prevalence of CHL and determine which clinical characteristics collected at birth, predict CHL within UNHS. MATERIALS AND METHODS: Retrospective analysis was conducted on all infants born between January 01, 2007 and December 31, 2018. During this period, 731,234 infants were screened, 9802 were direct referrals, and 1208 identified with a CHL. Chi squared analysis and logistic regression was conducted to determine CHL prevalence and identify which clinical characteristics predict CHL. RESULTS: The prevalence of CHL was 12.32%. Following adjustments for collinearity, clinical characteristics that could predict CHL were: bilateral referrals/medical exclusions to screen (Odds ratio, OR 1.89; 95% CI: 1.65-2.1), ≥1 risk factor for hearing loss (OR 2.03; 95% CI: 1.76-2.34), pre-term birth (OR 1.82; 95% CI: 1.57-2.10), male (OR 1.21; 95% CI: 1.07-1.37), and Indigenous status: 'Aboriginal (not Torres Strait Islander)' (OR 1.27; 95% CI:1.03-1.57 and 'not stated' (OR 2.95; 95% CI: 2.02-4.30). CONCLUSION: CHL within UNHS was highly prevalent, with six clinical characteristics that can predict that likelihood of an infant being diagnosed with a CHL. This data could be used to create alternative care pathways for infants with CHL, enabling early and targeted assessments, thereby reducing the risk of developmental delays for these infants.