An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations.

Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although the contribution of genetic variation and environmental factors to microtia remains elusive, Amerindigenous populations have the highest reported incidence. Here, using both transmission disequilibrium tests and association studies in microtia trios (parents and affected child) and microtia cohorts enrolled in Latin America, we map an ∼10-kb microtia locus (odds ratio = 4.7; P = 6.78e-18) to the intergenic region between Roundabout 1 (ROBO1) and Roundabout 2 (ROBO2) (chr3: 78546526 to 78555137). While alleles at the microtia locus significantly increase the risk of microtia, their penetrance is low (<1%). We demonstrate that the microtia locus contains a polymorphic complex repeat element that is expanded in affected individuals. The locus is located near a chromatin loop region that regulates ROBO1 and ROBO2 expression in induced pluripotent stem cell­derived neural crest cells. Furthermore, we use single nuclear RNA sequencing to demonstrate ROBO1 and ROBO2 expression in both fibroblasts and chondrocytes of the mature human pinna. Because the microtia allele is enriched in Amerindigenous populations and is shared by some East Asian subjects with craniofacial malformations, we propose that both populations share a mutation that arose in a common ancestor prior to the ancient migration of Eurasian populations into the Americas and that the high incidence of microtia among Amerindigenous populations reflects the population bottleneck that occurred during the migration out of Eurasia.

Damaging variants in FOXI3 cause microtia and craniofacial microsomia.

PURPOSE: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown. METHODS: We performed genome sequencing and linkage analysis in patients and families with microtia and CFM of unknown genetic etiology. The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro. RESULTS: We studied a 5-generation kindred with microtia, identifying a missense variant in FOXI3 (p.Arg236Trp) as the cause of disease (logarithm of the odds = 3.33). We subsequently identified 6 individuals from 3 additional kindreds with microtia-CFM spectrum phenotypes harboring damaging variants in FOXI3, a regulator of ectodermal and neural crest development. Missense variants in the nuclear localization sequence were identified in cases with isolated microtia with aural atresia and found to affect subcellular localization of FOXI3. Loss of function variants were found in patients with microtia and mandibular hypoplasia (CFM), suggesting dosage sensitivity of FOXI3. CONCLUSION: Damaging variants in FOXI3 are the second most frequent genetic cause of CFM, causing 1% of all cases, including 13% of familial cases in our cohort.

Longitudinal Study of Analgesic Use and Risk of Incident Persistent Tinnitus.

BACKGROUND: Persistent tinnitus is common, disabling, and difficult to treat. High-dose aspirin may precipitate tinnitus, but longitudinal data on typical dose aspirin and other analgesics are scarce. OBJECTIVE: To investigate independent associations of aspirin, NSAIDs, and acetaminophen and risk of incident persistent tinnitus. DESIGN: Longitudinal cohort study. SETTING: Nurses' Health Study II (1995-2017). PARTICIPANTS: A total of 69,455 women, age 31-48 years, without tinnitus at baseline. MAIN MEASURES: Information on analgesic use and tinnitus obtained by biennial questionnaires. KEY RESULTS: After 1,120,936 person-years of follow-up, 10,452 cases of incident persistent tinnitus were reported. For low-dose aspirin, the risk of developing persistent tinnitus was not elevated among frequent low-dose aspirin users. For moderate dose aspirin, frequent use was associated with higher risk of tinnitus among women aged < 60 years, but not among older women (p-interactionage = 0.003). Compared with women aged < 60 using moderate-dose aspirin < 1 day/week, the multivariable-adjusted hazard ratio (MVHR, 95% CI) among women using moderate-dose aspirin 6-7 days per week was 1.16 (1.03, 1.32). Among all women, frequent non-aspirin non-steroidal anti-inflammatory drug (NSAID) or acetaminophen use was associated with higher risk. Compared with women using NSAIDs <1 day/week, the MVHR for use 4-5days/week was 1.17 (1.08, 1.28) and for 6-7days/week was 1.07 (1.00, 1.16) (p-trend=0.001). For acetaminophen, compared with use <1 day/week, the MVHR for use 6-7days/week was 1.18 (1.07, 1.29) (p-trend=0.002). LIMITATIONS: Information on tinnitus and analgesic use was self-reported. Information on indications for analgesic use was not available. Studies in non-White women and men are needed. CONCLUSION: The risk of developing persistent tinnitus was not elevated among frequent low-dose aspirin users. Among younger women, frequent moderate-dose aspirin use was associated with higher risk. Frequent NSAID use and frequent acetaminophen use were associated with higher risk of incident persistent tinnitus among all women, and the magnitude of the risks tended to be greater with increasing frequency of use. Our results suggest analgesic users are at higher risk for developing tinnitus and may provide insight into the precipitants of this challenging disorder, but additional investigation to determine whether there is a causal association is needed.

Tinnitus and 3-Year Change in Audiometric Hearing Thresholds.

OBJECTIVES: Tinnitus and hearing loss commonly coexist, however, the temporal relation between tinnitus and hearing loss is complex and not fully understood. Our objective was to examine the longitudinal association between persistent tinnitus, bothersome tinnitus, and 3-year elevation of audiometric hearing thresholds. DESIGN: We conducted a longitudinal cohort study among 3106 women (mean age 59 years) who were participants in the Nurses' Health Study II (2012-2018). Information on tinnitus was obtained from biennial questionnaires. Longitudinal changes in air conduction thresholds (0.5 to 8 kHz) were assessed by pure-tone audiometry conducted by licensed audiologists at 19 audiology testing sites across the United States. Logistic regression was used to estimate multivariable-adjusted odds ratios (MVORs, 95% confidence interval [CI]) and evaluate the relations of persistent tinnitus (several days per week or more), bothersome tinnitus (interferes with work, sleep, or daily activities), and risk of 3-year elevation of hearing thresholds. RESULTS: Persistent tinnitus was associated with higher risk of 3-year elevation of hearing thresholds across a broad range of frequencies. Compared with women without tinnitus, the MVORs (95% CI) for ≥5-dB threshold elevation among women with persistent tinnitus were 1.01 (0.81, 1.25) at 0.5 kHz, 1.45 (1.17, 1.81) at 1 kHz, 1.25 (1.00, 1.56) at 2 kHz, 1.34 (1.07, 1.69) at 3 kHz, 1.34 (1.06, 1.70) at 4 kHz, 1.49 (1.16, 1.91) at 6 kHz, and 1.63 (1.25, 2.12) at 8 kHz. The magnitudes of the associations for ≥10-dB threshold elevation were similar. The magnitudes of the associations were substantially greater among women with bothersome tinnitus. For example, compared with women without tinnitus, the MVORs (95% CI) for a ≥5- and ≥10-dB elevation of hearing thresholds at 4 kHz were 2.97 (1.50, 5.89) and 2.79 (1.38, 5.65), respectively. The risk was elevated even among women with tinnitus who had clinically normal hearing thresholds at baseline. In analyses that examined the association of tinnitus and elevation of low-, mid- and high-frequency pure-tone average (PTA) hearing thresholds, the results were similar. Compared with women without tinnitus, the MVORs (95% CI) for ≥5-dB PTA elevation among women with persistent tinnitus were 1.29 (0.99,1.67) for LPTA(0.5,1,2 kHz); 1.44 (1.16, 1.78) for MPTA(3,4 kHz); and 1.38 (1.11, 1.71) for HPTA(6,8 kHz). For ≥10-dB elevation, the MVORs were 2.85 (1.55, 5.23), 1.52 (1.10, 2.09), and 1.41 (1.10, 1.82), respectively. CONCLUSION: Persistent tinnitus was associated with substantially higher risk of 3-year hearing threshold elevation, even among women with clinically normal baseline hearing. The magnitudes of the associations were greater among those with bothersome tinnitus. Monitoring hearing sensitivities may be indicated in patients with tinnitus, including those without audiometric evidence of hearing impairment.

Prospective Study of Dietary Patterns and Hearing Threshold Elevation.

We conducted a prospective study of dietary patterns and longitudinal change in audiometric hearing thresholds among 3,135 women (mean age = 59 years) in the Nurses' Health Study II (2012-2018). Diet adherence scores for the Dietary Approaches to Stop Hypertension (DASH) and Alternate Mediterranean (AMED) diets and the Alternate Healthy Eating Index 2010 (AHEI-2010) were calculated using validated food-frequency questionnaires. Baseline and 3-year follow-up hearing sensitivities were assessed by pure-tone audiometry at 19 US sites. We used multivariable-adjusted logistic regression models to examine independent associations between diet adherence scores and risk of ≥5 dB elevation in the pure-tone average (PTA) of low-frequency (LPTA0.5,1,2 kHz), mid-frequency (MPTA3,4 kHz), and high-frequency (HPTA6,8 kHz) hearing thresholds. Higher adherence scores were associated with lower risk of hearing loss. Compared with the lowest quintile of DASH score, the multivariable-adjusted odds ratios for mid-frequency and high-frequency threshold elevation in the highest quintile were 0.71 (95% confidence interval (CI): 0.55, 0.92; P for trend = 0.003) and 0.75 (95% CI: 0.59, 0.96; P for trend = 0.02); for AMED and AHEI scores, for mid-frequency threshold elevation, they were 0.77 (95% CI: 0.60, 0.99; P for trend = 0.02) and 0.72 (95% CI: 0.57, 0.92; P for trend = 0.002). Nonsignificant inverse associations were observed for high-frequency threshold elevation. There were no significant associations between adherence scores and low-frequency threshold elevation. Our findings indicate that eating a healthy diet might reduce the risk of acquired hearing loss.

Type 2 diabetes and the risk of incident hearing loss.

AIMS/HYPOTHESIS: Type 2 diabetes mellitus has been implicated as a risk factor for hearing loss, with possible mechanisms including microvascular disease, acoustic neuropathy or oxidative stress. A few small studies have examined the longitudinal association between type 2 diabetes and hearing loss, but larger studies are needed. Our objective was to examine whether type 2 diabetes (including diabetes duration) is associated with incident hearing loss in two prospective cohorts: Nurses' Health Studies (NHS) I and II. METHODS: We conducted a longitudinal study of 139,909 women to examine the relationship between type 2 diabetes and the risk of self-reported incident hearing loss. A physician-diagnosis of diabetes was ascertained from biennial questionnaires. The primary outcome was hearing loss reported as moderate or worse in severity (categorised as a 'moderate or severe' hearing problem, or 'moderate hearing trouble or deaf') on questionnaires administered in 2012 in NHS I and 2009 or 2013 in NHS II. Cox proportional hazards regression was used to adjust for potential confounders. RESULTS: During >2.4 million person-years of follow-up, 664 cases of moderate or worse hearing loss were reported among those with type 2 diabetes and 10,022 cases among those without type 2 diabetes. Compared with women who did not have type 2 diabetes, those with type 2 diabetes were at higher risk for incident moderate or worse hearing loss (pooled multivariable-adjusted HR 1.16 [95% CI 1.07, 1.27]). Participants who had type 2 diabetes for ≥8 years had a higher risk of moderate or worse hearing loss compared with those without type 2 diabetes (pooled multivariable-adjusted HR 1.24 [95% CI 1.10, 1.40]). CONCLUSIONS/INTERPRETATION: In this large longitudinal study, type 2 diabetes was associated with a modestly higher risk of moderate or worse hearing loss. Furthermore, longer duration diabetes was associated with a higher risk of moderate or worse hearing loss.

Adherence to Healthful Dietary Patterns Is Associated with Lower Risk of Hearing Loss in Women.

Background: Specific nutrients have been associated with hearing status, but associations between healthful dietary patterns and risk of hearing loss have not been prospectively evaluated. Objective: We sought to prospectively examine the relations between adherence to the Alternate Mediterranean diet (AMED), the Dietary Approaches to Stop Hypertension (DASH), and the Alternative Healthy Eating Index-2010 (AHEI-2010), and risk of hearing loss. Methods: We conducted a longitudinal cohort study (1991-2013) of 81,818 women in the Nurses' Health Study II, aged 27-44 y at baseline. We assessed diet every 4 y with the use of food frequency questionnaires and calculated AMED, DASH, and AHEI-2010 adherence scores. Baseline and updated information from validated biennial questionnaires was used in Cox proportional hazards regression models to examine independent associations between adherence scores and risk of self-reported moderate or worse hearing loss. Results: During >1 million person-years of follow-up, 2306 cases of moderate or worse hearing loss were reported. Higher cumulative average AMED and DASH scores were significantly inversely associated with risk of hearing loss. For women with scores in the highest compared with the lowest quintile, the multivariable-adjusted relative risks (MVRRs) of hearing loss were 0.70 (95% CI: 0.60, 0.82) (P-trend <0.001) for AMED and 0.71 (95% CI: 0.61, 0.83) (P-trend <0.001) for DASH. Higher recent AHEI-2010 score was also associated with lower risk [MVRR = 0.79 (95% CI: 0.69, 0.91); P-trend <0.001]. Among participants with additional hearing-related information (n = 33,102), higher cumulative average adherence scores for all 3 dietary patterns were associated with lower risk; the MVRR was 0.63 (95% CI: 0.49, 0.81) for AMED, 0.64 (95% CI: 0.50, 0.83) for DASH, and 0.71 (95% CI: 0.56, 0.89) for AHEI-2010. Conclusion: Adherence to healthful dietary patterns is associated with lower risk of hearing loss in women. Consuming a healthy diet may be helpful in reducing the risk of acquired hearing loss.

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.

Microtia is a rare, congenital malformation of the external ear that in some cases has a genetic etiology. We ascertained a three-generation family with bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing of affected family members detected only seven shared, rare, heterozygous, nonsynonymous variants, including one protein truncating variant, a HOXA2 nonsense change (c.703C>T, p.Q235*). The HOXA2 variant was segregated with microtia and hearing loss in the family and was not seen in 6,500 individuals sequenced by the NHLBI Exome Sequencing Project or in 218 control individuals sequenced in this study. HOXA2 has been shown to be critical for outer and middle ear development through mouse models and has previously been associated with autosomal recessive bilateral microtia. Our data extend these conclusions and define HOXA2 haploinsufficiency as the first genetic cause for autosomal-dominant nonsyndromic microtia.

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval spans a genetic distance of 5.41 cM and a physical distance of 15.1 Mb that overlaps the DFN2 locus. Mutation screening of the PRPS1 gene in this family and in the three previously reported DFN2 families identified four different missense mutations in PRPS1. These mutations result in a loss of phosphoribosyl pyrophosphate (PRPP) synthetase 1 activity, as was shown in silico by structural analysis and was shown in vitro by enzymatic activity assays in erythrocytes and fibroblasts from patients. By in situ hybridization, we demonstrate expression of Prps1 in murine vestibular and cochlea hair cells, with continuous expression in hair cells and postnatal expression in the spiral ganglion. Being the second identified gene associated with X-linked nonsyndromic deafness, PRPS1 will be a good candidate gene for genetic testing for X-linked nonsyndromic hearing loss.

Eya4-deficient mice are a model for heritable otitis media.

Otitis media is an extremely common pediatric inflammation of the middle ear that often causes pain and diminishes hearing. Vulnerability to otitis media is due to eustachian tube dysfunction as well as other poorly understood factors, including genetic susceptibility. As EYA4 mutations cause sensorineural hearing loss in humans, we produced and characterized Eya4-deficient (Eya4(-/-)) mice, which had severe hearing deficits. In addition, all Eya4(-/-) mice developed otitis media with effusion. Anatomic studies revealed abnormal middle ear cavity and eustachian tube dysmorphology; thus, Eya4 regulation is critical for the development and function of these structures. We suggest that some human otitis media susceptibility reflects underlying genetic predisposition in genes like EYA4 that regulate middle ear and eustachian tube anatomy.

Osteoporosis, bisphosphonate use, and risk of moderate or worse hearing loss in women.

BACKGROUND: Osteoporosis and low bone density (LBD) may be associated with higher risk of hearing loss, but findings are inconsistent and longitudinal data are scarce. Bisphosphonates may influence risk, but the relation has not been studied in humans. We longitudinally investigated associations of osteoporosis and LBD, bisphosphonate use, vertebral fracture (VF), hip fracture (HF), and risk of self-reported moderate or worse hearing loss. DESIGN: Longitudinal cohort study. SETTING: The Nurses' Health Study (NHS) (1982-2016) and Nurses' Health Study II (NHS II) (1995-2017). PARTICIPANTS: Participants included 60,821 NHS women, aged 36-61 years at baseline, and 83,078 NHS II women, aged 31-48 years at baseline (total n = 143,899). MEASUREMENTS: Information on osteoporosis, LBD, bisphosphonate use, VF, HF, and hearing status was obtained from validated biennial questionnaires. In a subcohort (n = 3749), objective hearing thresholds were obtained by audiometry. Multivariable-adjusted Cox proportional hazards models were used to examine independent associations between osteoporosis (NHS), osteoporosis/LBD (NHS II), and risk of hearing loss. RESULTS: The multivariable-adjusted relative risk (MVRR, 95% confidence interval) of moderate or worse hearing loss was higher among women with osteoporosis or LBD in both cohorts. In NHS, compared with women without osteoporosis, the MVRR was 1.14 (1.09, 1.19) among women with osteoporosis; in NHS II, the MVRR was 1.30 (1.21, 1.40) among women with osteoporosis/LBD. The magnitude of the elevated risk was similar among women who did and did not use bisphosphonates. VF was associated with higher risk (NHS: 1.31 [1.16, 1.49]; NHS II: 1.39 [1.13, 1.71]), but HF was not (NHS: 1.00 [0.86, 1.16];NHS II: 1.15 [0.75,1.74]). Among participants with audiometric measurements, compared with women without osteoporosis/LBD, the mean multivariable-adjusted hearing thresholds were higher (i.e., worse) among those with osteoporosis/LBD who used bisphosphonates. CONCLUSION: Osteoporosis and LBD may be important contributors to aging-related hearing loss. Among women with osteoporosis, the risk of hearing loss was not influenced by bisphosphonate use.

Improving Mortality Attribution in Otolaryngology - Head and Neck Surgery.

OBJECTIVE/HYPOTHESIS: Mortality attribution can have significant implications for reimbursement, hospital/department rankings, and perceptions of safety. This work seeks to compare the accuracy of externally assigned diagnosis-related group (DRG)-based service line mortality attribution in otolaryngology to an internal review process that assigns mortality to the teams that cared for a patient during hospitalization. STUDY DESIGN: Retrospective case series. METHODS: Mortality events at Vanderbilt University Medical Center (VUMC) from 2012 to 2018 were compared. Included events were assigned to the otolaryngology service line (OSL) via the following methods: an external agency (Vizient) using DRG, utilization management assignment based on the service that provided care at admission (admission service), discharge (discharge service), or throughout hospitalization (major service line), or through the internal VUMC mortality review committee. Internal review was considered the standard for comparison. RESULTS: Of the 28 mortality events assigned to OSL by the DRG-based external method, nine (32%) were actually attributable to OSL. Of the 23 total mortality events attributable to OSL at our institution, external DRG-based review captured nine (39%). The designation of major service during hospitalization was correct 95% of the time and captured 87% of mortality events. Differences between external and internal attribution methods were statistically significant (P < .001). CONCLUSIONS: DRG-based models are frequently utilized but can be inaccurate when attributing mortality for an individual otolaryngology department. Otolaryngology mortalities appear to be captured and assigned more accurately by assigning deaths to the service that renders the majority of care during hospitalization. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E1805-E1810, 2021.

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

BACKGROUND: The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36. METHODS: Refined genetic mapping and DNA sequencing of 44 genes between D2S2210 and D2S2244 revealed BCS1L mutations. Functional analyses elucidated how BCS1L mutations cause the Björnstad syndrome. RESULTS: BCS1L encodes a member of the AAA family of ATPases that is necessary for the assembly of complex III in the mitochondria. In addition to the Björnstad syndrome, BCS1L mutations cause complex III deficiency and the GRACILE syndrome, which in neonates are lethal conditions that have multisystem and neurologic manifestations typifying severe mitochondrial disorders. Patients with the Björnstad syndrome have mutations that alter residues involved in protein-protein interactions, whereas mutations in patients with complex III deficiency alter ATP-binding residues, as deduced from the crystal structure of a related AAA-family ATPase. Biochemical studies provided evidence to support this model: complex III deficiency mutations prevented ATP-dependent assembly of BCS1L-associated complexes. All mutant BCS1L proteins disrupted the assembly of complex III, reduced the activity of the mitochondrial electron-transport chain, and increased the production of reactive oxygen species. However, only mutations associated with complex III deficiency increased mitochondrial content, which further increased the production of reactive oxygen species. CONCLUSIONS: BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and sensorineural hearing loss (the Björnstad syndrome) to profound multisystem organ failure (complex III deficiency and the GRACILE syndrome). All BCS1L mutations disrupted the assembly of mitochondrial respirasomes (the basic unit for respiration in human mitochondria), but the clinical expression of the mutations was correlated with the production of reactive oxygen species. Mutations that cause the Björnstad syndrome illustrate the exquisite sensitivity of ear and hair tissues to mitochondrial function, particularly to the production of reactive oxygen species.

Same-Day Patient Consultation and Cochlear Implantation: Innovations in Patient-Centered Health Care Delivery.

OBJECTIVE: To develop and implement a streamlined, patient-centered service delivery model for patients referred for cochlear implantation (CI) at a high-volume academic center. PATIENTS: CI candidate adults. INTERVENTIONS: CI, implementation of new CI delivery model. MAIN OUTCOME MEASURES: Referral-to-surgery time, patient travel burden. RESULTS: Data from 206 adults that underwent CI were used to develop a process map of the initial operational state from referral date to day of surgery (referral-to-surgery time). The initial referral-to-surgery time was 136 days on average, yet the average total work time by all involved providers was 17.6 hours. Prolonged wait times were associated with the following preoperative tasks: appointment scheduling, insurance approval, device ordering and shipment, and surgical scheduling. Patients traveled to the institution on at least two occasions for appointments. A new bundled, patient-centered CI delivery model was developed to address prolonged wait times, travel burden, and process inefficiencies. The new model implemented an interactive electronic medical record, coordinated appointments with same-day surgery, and stocked device inventory to reduce the referral-to-surgery time to 24 days-an improvement of 112 days. In the new model, new patient consultation and surgery were completed in one day, reducing the patient travel burden to the institution. CONCLUSIONS: The new CI program demonstrates that delivery innovations can have a substantial impact on measures of patient convenience and experience, and that these results are achievable without new technologies or changes in medical management. With a focus on patient-centered design, health care delivery models can be augmented to increase value for patients.

Intentional exposure to loud music: the second MTV.com survey reveals an opportunity to educate.

OBJECTIVES: Music-induced hearing loss (MIHL), an unconsciously self-inflicted public health concern, could evolve into an epidemic because of the appeal of loud music. After media attention about a previous hearing-loss survey with Music Television (MTV.com), we hypothesized that a repeat survey could compare awareness and behavior trends. STUDY DESIGN: We incorporated the 2002 survey into the new 73-question instrument presented to random visitors on the MTV.com website in 2007. A P < .05 value was used for independent t and z- tests. RESULTS: A total of 2500 completed surveys were analyzed. Hearing loss was considered a problem by 32% of respondents compared with other health issues such as drug/alcohol use (62%). However, nearly half of the respondents admitted experiencing symptoms such as tinnitus or hearing loss after loud music exposure. Health care providers were the least likely source of MIHL awareness despite the respondents favoring provider education for hearing protection behavior modification. CONCLUSION: Most respondents still could not recall learning about prevention of potential hearing loss, although the media has become the most informative source. Most respondents indicated that they would adopt protective ear behavior if made aware of hearing loss risk, especially if informed by health care professionals, revealing an educational opportunity.

The epidemiology of hearing impairment in the United States: newborns, children, and adolescents.

OBJECTIVE: Hearing loss ranks high among disabilities in the United States. The epidemiologic parameters of hearing impairment in the United States have not been systematically studied and important historic data have not diffused to relevant stakeholders; even otolaryngologists are unfamiliar with epidemiologic data. We wished to compile known studies to establish an epidemiologic baseline beginning with pediatric data. DATA SOURCES: Relevant literature was retrieved from medical databases and Centers for Disease Control and Prevention reports. METHODS: Candidate articles and national data sets encompassing pediatric hearing loss were analyzed and compared. Whenever possible, group analyses were performed. RESULTS: The average incidence of neonatal hearing loss in the United States is 1.1 per 1000 infants, with variation among states (0.22 to 3.61 per 1000). Childhood and adolescent prevalence rates demonstrate variability. The prevalence of mild hearing impairment or worse (>20 dB) is 3.1 percent based on the average of comparable audiometric screening studies; self-reporting prevalence is 1.9 percent. Hispanic Americans demonstrate a higher prevalence of hearing impairment than other children. Low-income households demonstrate a higher prevalence of hearing loss compared to households with higher income levels. Genetic causes were attributed to 23 percent across studies. CONCLUSIONS: Analysis of the data reveals gaps in our knowledge of the epidemiology of hearing loss and stresses the importance of consistent definitions of hearing impairment for systematic assessment of changes over time. Hearing loss in childhood deserves further epidemiologic investigation and elevated awareness among health care professionals and the public. Genetic etiologies are likely underestimated in this review.

Radiologic evaluation of the ear anatomy in pediatric cholesteatoma.

The aim of the study was to describe computed tomography (CT) findings in middle ear cholesteatoma in pediatric patients. A cohort of 32 children with cholesteatoma (3-14 years old) entered the study. From them, 30 presented acquired cholesteatoma (AC), and 2 presented congenital cholesteatoma. All of the children were investigated using CT before surgery of the middle ear and mastoid. Computed tomography was performed with 1- or 2-mm axial and coronal sections of both temporal bones. Nineteen children with AC (63.3%) revealed a diffuse soft-tissue density isodense with muscle, whereas in 6 of them, the mass mimicked inflammation. The remaining revealed localized soft-tissue mass with partially lobulated contour. In AC, ossicular erosion was detected in 23 cases (76.7%), abnormal pneumatization in 19 cases (63.3%), and erosion-blunting of spur and enlargement of middle ear or mastoid in 8 cases (26.7%). The 2 congenital cholesteatomas revealed soft-tissue mass with polypoid densities, while a semicircular canal fistula was detected in one of them. High-resolution CT facilitates early diagnosis and appropriate treatment of pediatric cholesteatoma by assessing the anatomic abnormalities and the extent of disease, which are crucial in middle ear and mastoid surgery.

Podcasting: contemporary patient education.

Portable video technology is a widely available new tool with potential to be used by pediatric otolaryngology practices for patient and family education. Podcasts are media broadcasts that employ this new technology. They can be accessed via the Internet and viewed either on a personal computer or on a handheld device, such as an iPod or an MP3 player. We wished to examine the feasibility of establishing a podcast-hosting Web site. We digitally recorded pediatric otologic procedures in the operating room and saved the digital files to DVDs. We then edited the DVDs at home with video-editing software on a personal computer. Next, spoken narrative was recorded with audio-recording software and combined with the edited video clips. The final products were converted into the M4V file format, and the final versions were uploaded onto our hospital's Web site. We then downloaded the podcasts onto a high-quality portable media player so that we could evaluate their quality. All of the podcasts are now on the hospital Web site, where they can be downloaded by patients and families at no cost. The site includes instructions on how to download the appropriate free software for viewing the podcasts on a portable media player or on a computer. Using this technology for patient education expands the audience and permits portability of information. We conclude that a home computer can be used to inexpensively create informative surgery demonstrations that can be accessed via a Web site and transferred to portable viewing devices with excellent quality.

Isolated microtia as a marker for unsuspected hemifacial microsomia.

OBJECTIVE: To determine the proportion of hemifacial microsomia (HFM) in patients with unilateral or bilateral "isolated" microtia. DESIGN: Prospective cohort clinical study. SETTING: University-affiliated, tertiary referral clinic for patients with microtia. PATIENTS: One hundred consecutive patients with isolated microtia. INTERVENTIONS: All the patients underwent a clinical examination and audiologic evaluation. The OMENS classification system was used to grade the severity of craniofacial features: orbital deformity, mandibular hypoplasia, ear deformity, nerve (cranial nerve VII) involvement, and soft-tissue deficiency. Each anatomical abnormality was graded from 0 (normal) to 3 (most severe) (score range, 0-15). MAIN OUTCOME MEASURES: The OMENS scores, percentage of patients with isolated microtia and undiagnosed HFM, and isolated microtia as an early clinical marker for HFM. RESULTS: Forty patients (40%) with microtia were determined to have HFM (31 unilateral and 9 bilateral). Mean patient age was 9.2 years (range, 6 weeks to 41 years), with male predominance (27 males and 13 females). The OMENS scores were less than 5 in 24 patients and 6 to 10 in 16 patients. Thirty patients had cranial nerve deficits, and 37 had mandibular asymmetry. Thirty-seven patients demonstrated conductive hearing loss, and 1 had sensorineural hearing loss. CONCLUSIONS: Isolated microtia served as an early clinical marker for asymmetrical facial growth in 40% of the patients. Isolated microtia and HFM could represent a spectrum of expression of the same developmental phenomenon.