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Background: Congenital cytomegalovirus-associated hearing loss (cCMV-associated HL) is a common cause of congenital or early-onset deafness. Although cCMV infection has been reported to lead to various types of HL, the natural course of cCMV-associated HL over a long period is not yet known., Objectives: To investigate the clinical phenotype of cCMV-associated HL in the largest study to date., Methods: Thirty-one CMV-positive children, diagnosed by examining CMV DNA extracted from their dried umbilical cords retrospectively, were divided into unilateral and bilateral HL groups, and their hearing ability was evaluated using pure-tone audiometry and auditory steady-state response over time., Results: Thirteen patients (41.9%) had unilateral HL and 18 (58.1%) had bilateral HL. In most cases of unilateral cCMV-associated HL, the ear with better hearing maintained a normal hearing threshold. Notably, in most cases of both unilateral and bilateral HL, the ear with worse hearing ultimately showed severe to profound HL., Conclusion: Our findings revealed that the natural course of cCMV-associated HL was different between the cases of unilateral and bilateral HL, as well as between the ears with better or worse hearing in all cases. These findings indicate that accurate diagnosis could enable proper follow-up and management of cCMV-associated HL in children.

Objective: Long QT syndrome (LQTS) is an inherited cardiac ion channel disorder (channelopathy) that is characterized by prolonged QT intervals on the electrocardiography (ECG) and possess the risk of sudden cardiac death (SCD). Jervell-Lange Nielsen syndrome (JLNS) is a specific subtype of LQTS that is accompanied by congenital sensorineural hearing loss, inherited autosomal recessively, and higher risk of SCD. In this study, we aimed to investigate JLNS prevalence in deaf children attending special schools for hearing loss, located in our province., Methods: An ECG screening program was conducted in 6 special schools for children with hearing loss in İstanbul and a total of 440 students between 6 and 18 years old were included. Corrected QT interval (QTc) was calculated using the Bazett formula. Notably, 51 students, detected with any abnormal finding on ECG, were invited to our center for a comprehensive examination., Results: A total of 8 patients were found with a prolonged QT interval. JLNS was diagnosed in 4 (0.9%) patients. In addition, 2 students had already been diagnosed with JLNS at another center earlier. The other 2 students, being siblings, were newly diagnosed with JLNS; and appropriate treatment was initiated. Genetic testing revealed a pathological homozygous mutation in KCNQ1 gene. The younger sibling (Case 1), who possessed a QTc of greater than 500 ms and a history of syncope, which was very suspicious for SCD, was implanted an implantable cardioverter-defibrillator. Propranolol treatment was initiated for both siblings., Conclusion: JLNS should be carefully considered and screened, especially in patients with a history of congenital deafness.

Objectives/hypothesis: To determine the prevalence of children with genetic hearing loss who are cytomegalovirus (CMV) positive at birth and the relative proportion of genetic and CMV etiology among children with congenital bilateral hearing loss., Study Design: Database review., Methods: We performed a review of clinical test results for patients undergoing comprehensive genetic testing for all known hearing loss-associated genes from January 2012 to January 2019. This population was reviewed for reported CMV status and genetic causes of congenital bilateral hearing loss., Results: In the OtoSCOPE database, 61/4,282 patients were found to have a documented CMV status, and 661/4282 had documented bilateral congenital hearing loss. Two patients were identified who had both a positive CMV result and a genetic cause for their hearing loss. Forty-eight percent of patients with bilateral congenital hearing loss (320/661) were found to have a genetic etiology. In 62% (198/320), the hearing loss was associated with pathogenic variants in GJB2, STRC, SLC26A4 or an Usher syndrome-associated gene., Conclusions: We estimate that ~2% of CMV-positive newborns with hearing loss have a known genetic variant as a cause. The subcohort of CMV-positive newborns with symmetric mild-to-moderate bilateral hearing loss will have at least a 7% chance of having pathogenic gene variants associated with hearing loss. In a CMV-positive neonate who failed their newborn hearing screen bilaterally, genetic screening needs to be considered for accurate diagnosis and possible deferment of antiviral treatment., Level of Evidence: 4 Laryngoscope, 130:2714-2718, 2020., (© 2020 The American Laryngological, Rhinological and Otological Society, Inc.)

Purpose This study investigated longitudinal hearing aid (HA) use in a cohort of children with moderate hearing loss (CHL), fitted with amplification before the age of 6 months. Additionally, the relationship of HA use and aided audibility on outcomes of parental questionnaires of auditory skills was examined, and these outcomes were compared to a group of children with normal hearing (CNH). Method Nine CHL and 29 CNH and their parents participated in the study. Measures were collected at initial fitting, 10, 18, 24, 30, and 36 months of age. Parents reported hours of HA use and situations the HAs were used. Datalogging and speech intelligibility index were also collected. Auditory skills were measured through parental questionnaires. Results The mean hours of HA use/day for this cohort increased from 7.55 at the ages of 10 months to 10.15 at 36 months according to datalogging. Parental estimations of hours of HA use and in which situations varied between subjects. Correlations between HA use from datalogging and speech intelligibility index to measures of auditory skills were weak. CHL showed similar results to CNH on auditory development at the ages of 10, 18, and 24 months but presented with significantly lower scores on auditory functional performance in noise at 30 and 36 months of age. Conclusions Longitudinal monitoring of HA use from fitting of amplification with the combination of objective and subjective tools may have a positive impact on HA use in CHL. The lower scores on listening in noise compared to CNH call for further attention.

Objectives: Newborn hearing screening (NHS) has been actively performed since 2001 in Akita, Japan. The NHS coverage rate has increased yearly, and performance has been consistently >90% since 2012. The purpose of this study was to summarize NHS outcomes in the Akita prefecture of Japan and to obtain new insights for from our summarized data for the future., Methods: A total of 35,461 newborns in hospitals and clinics where hearing screening was performed in Akita from 2012 to 2016 were included. The outcome data of NHS were collected for analysis., Results: The overall screening coverage rate for hearing loss was 94.7%. Of the screened infants, 0.53% received a referral on the 2-stage automated auditory brainstem response (ABR), and 80.4% of referred infants had a check-up at the hospital to receive a diagnostic hearing examination. Finally, the prevalence of bilateral congenital hearing loss was 0.14%, that of bilateral moderate to profound hearing loss was 0.12%, and that of unilateral congenital hearing loss was 0.10%. Furthermore, the average consultation period in infants with risk factors was significantly later than that in infants without risk factors (p = 0.0015). Follow-up for infants diagnosed with normal hearing after diagnostic hearing examination revealed that 4.7% suffered bilateral moderate to profound hearing loss later. This percentage is significantly higher than that of the general group (p < 0.001)., Conclusion: The prevalence of bilateral congenital hearing loss was 0.14% in Akita and 0.12% of infants were diagnosed with bilateral moderate to severe hearing loss. Medical personnel should be enlightened regarding the importance of performing hearing diagnostic examinations until 3 months of age. Even if infants were diagnosed with normal hearing after a diagnostic examination, we strongly suggest continuing follow-up until they are able to perform pure tone audiometry with accuracy., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Objective and importance: Cochlear implantation can be performed successfully in patients with otospongiosis of the temporal bone with the potential for excellent audiological outcomes and high patient satisfaction. The purpose of this case report is to highlight the clinical considerations for implantation in cochlear otospongiosis including the need for careful pre-operative implant device selection, intra-operative surgical challenges such as the presence of hypervascularity and possible cochlear ossification resulting in difficulty in placing the electrode array and the possibility of postoperative facial nerve stimulation. Clinical presentation: A 14-year-old girl with cochlear otospongiosis likely due to osteogenesis imperfecta presented with progressive bilateral profound sensorineural hearing loss underwent successful cochlear implantation despite several challenges. Conclusion: Cochlear implantation in patients with cochlear otospongiosis with profound sensorineural hearing loss potentially may be very successful. Thorough pre-operative radiological evaluation is necessary. Possible intra-operative and post-operative challenges unique to these patients must be kept in mind. Adequate precautions should be taken to optimize the likelihood of complete electrode insertion such as using a depth gauge prior to inserting the electrode array and performing an intra-operative x-ray and / or neural response telemetry to confirm correct electrode placement.

Objectives: The aim of the study was to clarify differences in the prevalence and features of bony malformations in inner ear between congenital unilateral sensorineural hearing loss (USNHL) and congenital bilateral sensorineural hearing loss (BSNHL)., Methods: We conducted a retrospective study of 378 consecutive infants referred from routine newborn hearing screening in the past 18 years. Clinical background, audiological data, and temporal bone computed tomography (CT) findings were analyzed. The prevalence of malformations between USNHL and BSNHL groups were compared using the Chi-square test., Results: The proportion of family history of hearing loss was significantly higher in infants with BSNHL than in those with USNHL (26/107 [24.3%] vs. 4/105 [3.7%]; p = 0.0001). Temporal bone CT scanning revealed significantly a higher prevalence of inner ear malformations in infants with USNHL than in those with BSNHL (93/109 [85.3%] vs. 4/107 [3.7%]; p < 0.0001). The most frequent anomaly in USNHL was cochlear nerve canal stenosis (69.7%), followed by cochlear malformations (20.2%), and narrow internal auditory canal (17.4%). Four infants with BSNHL accompanied by inner ear anomaly had complications such as Down's syndrome, developmental delay, or epilepsy., Conclusions: The prevalence of bony malformations in inner ear and/or IAC was markedly higher in infants with congenital USNHL than in infants with BSNHL. Temporal bone CT scanning may help to clarify the etiology of congenital hearing loss, especially in USNHL., (Copyright © 2019. Published by Elsevier B.V.)

Objectives: The study aimed to determine the effect of interimplant interval and onset of profound deafness on sound localization in children with bilateral cochlear implants, controlling for cochlear implant manufacturer, age, and time since second implant., Design: The authors conducted a retrospective, observational study using routinely collected clinical data. Participants were 127 bilaterally implanted children aged 4 years or older, tested at least 12 mo post- second implant. Children used implants made by one of three manufacturers. Sixty-five children were simultaneously implanted, of whom 43% were congenitally, bilaterally profoundly deaf at 2 and 4 kHz and 57% had acquired or progressive hearing loss. Sixty-two were implanted sequentially (median interimplant interval = 58 mo, range 3-143 mo) of whom 77% had congenital and 23% acquired or progressive bilateral profound deafness at 2 and 4 kHz. Children participated in a sound-source localization test with stimuli presented in a random order from five loudspeakers at -60, -30, 0, +30, and +60 degrees azimuth. Stimuli were prerecorded female voices at randomly roved levels from 65 to 75 dB(A). Root mean square (RMS) errors were calculated. Localization data were analyzed via multivariable linear regression models, one applied to the whole group and the other to just the simultaneously implanted children., Results: Mean RMS error was 25.4 degrees (SD = 12.5 degrees) with results ranging from perfect accuracy to chance level (0-62.7 degrees RMS error). Compared with simultaneous implantation, an interimplant interval was associated with worse localization by 1.7 degrees RMS error per year (p < 0.001). Compared with congenital deafness, each year with hearing thresholds better than 90 dB HL at 2 and 4 kHz bilaterally before implantation led to more accurate localization by 1.3 degrees RMS error (p < 0.005). Every year post-second implant led to better accuracy by 1.6 degrees RMS error (p < 0.05). Med-El was associated with more accurate localization than Cochlear by 5.8 degrees RMS error (p < 0.01) and with more accurate localization than Advanced Bionics by 9.2 degrees RMS error (p < 0.05)., Conclusions: Interimplant interval and congenital profound hearing loss both led to worse accuracy in sound-source localization for children using bilateral cochlear implants. Interimplant delay should therefore be minimized for children with bilateral profound hearing loss. Children presenting with acquired or progressive hearing loss can be expected to localize better via bilateral cochlear implants than their congenitally deaf peers.

A retrospective review of children with confirmed hearing loss identified through universal newborn hearing screening (UNHS) in Virginia from 2010 to 2014 was conducted in order to compare the incidence of Joint Committee on Infant Hearing (JCIH) risk factors in children with unilateral hearing loss (UHL) to bilateral hearing loss (BHL). Over the 5-year study period, 1004 children (0.20% of all births) developed a confirmed hearing loss, with 544 (51%) children having at least one JCIH risk factor. Overall, 18% of children with confirmed hearing loss initially passed UNHS. Of all children with risk factors, 226 (42%) demonstrated UHL and 318 (58%) had BHL. The most common risk factors for UHL were neonatal indicators (69%), craniofacial anomalies (30%), stigmata of HL syndromes (14%), and family history (14%). The most common risk factors in BHL were neonatal indicators (49%), family history (27%), stigmata of HL syndromes (19%), and craniofacial anomalies (16%). Children with the risk factor for positive family history were more likely to have BHL, while those with craniofacial anomalies were more likely to have UHL ( P < .001). Neonatal indicators were the most commonly identified risk factor in both UHL and BHL populations. Children with UHL were significantly more likely to have craniofacial anomalies, while children with BHL were more likely to have a family history of hearing loss. Further studies assessing the etiology underlying the hearing loss and risk factor associations are warranted.

It has been seen that 20% of children with deafness have inner ear malformations. Studies demonstrate that Cerebrospinal Fluid (CSF) leakage occurs in 40-50% of patients with inner ear malformations. Differentiating between the various malformations pre-operatively allows the cochlear implant surgeon to plan and prepare for various difficulties associated with the management of such cases. In case of a CSF gusher, a choice of an electrode with a stopper helps in effectively closing off the cochleostomy, thus reducing the chances of post-operative infections. Case description: SM, a 10-year-old girl with the diagnosis of bilateral progressive profound hearing loss showed cochlear malformations on high resolution computed tomography (HRCT) scans of the temporal bones. A detailed study and discussion with the neuro-radiologist helped in identifying the cochleo-vestibular malformations (CVM) on both sides, thus making the choice of the better ear for electrode insertion and the type of electrode. She was subjected to left ear cochlear implantation using a lateral canal labyrinthotomy approach and a Form electrode (Med El®) with a special conical stopper was used to effectively seal the labyrinthostomy. Conclusion: Common cavity (CC) and Incomplete Partition (IP) Type I present as diagnostic challenges. Getting to the right diagnosis is of paramount importance as it helps in deciding the correct ear, choosing the correct electrode, and preparing for the surgical situations the surgeon might encounter. The Form electrode shows promise due to its unique conical seal which helps in preventing CSF leakage, thus reducing the chances of post-operative infections in cases of deformed cochlea.

Objective: To evaluate the balance skills and falling risk in children with a congenital bilateral profound sensorineural hearing loss (CBPSNHL)., Methods: 25 children with CBPSNHL and healthy 25 children with similar age and gender were included in the study. The flamingo balance test, the tandem stance test, and the one-leg standing test were performed to assess the patients' static balance skills. The pediatric balance scale (PBS) was used to evaluate the dynamic balance. Visual analog scale (VAS) was applied to the patients assess the frequency of falls., Results: The flamingo balance test, the tandem stance test, and the one-leg standing test in the children with CBPSNHL were all significantly worse than the control group. Although the scores of PBS in patients with CBPSNHL were significantly lower than the control group (p < 0.001), the results of both groups were consistent with a low risk of falls. There was no significant difference between the VAS scores indicating the frequency of falls among the groups (p = 0.552)., Conclusion: Static and dynamic balance skills of the children with CBPSNHL are significantly impaired compared to their healthy peers. Children with CBPSNHL also have a lower risk of falling just like their healthy peers and there is no significant difference between their falling frequencies. Balance skills of children with CBPSNHL can be assessed quickly and effectively on a hard floor (eyes closed), with a tandem standing test or a one-leg standing test., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Internal auditory canal anomalies are rare. Narrow internal auditory canal is believed to occur as a result of aplasia or hypoplasia of the vestibulocochlear nerve. Narrow duplication of the internal auditory canal is considered to be very rare. Narrow duplication of the internal auditory canal with inner ear malformation has been reported in only 3 cases. We present 2 cases of narrow duplication of the internal auditory canal with inner ear malformation. The first case had inner ear malformation on only one side and the second case had inner ear malformation on both sides. The embryogenesis may be different between internal auditory canal and inner ear., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Objectives: Bilateral cochlear implants (CI) are the standard treatment for bilaterally deaf children, but it is unclear how much the second CI can be delayed in sequential bilateral CI. We investigated the performances of sequential CI to answer this question., Study Design: Retrospective case series review., Setting: Tertiary referral center., Methods: We studied a cohort of congenitally deaf children (n = 73) who underwent sequential CI without any inner ear anomaly or combined disabilities. Hearing threshold levels and speech perception were evaluated by aided pure tone audiometry and Asan-Samsung Korean word recognition test. The scores were analyzed by the ages at surgery and compared among the different age groups., Results: When the second CI was performed before 3.5 years (the optimal period for the first CI), the second CI scores (96.9%) were comparable to the first CI scores. Although the first CI scores were more than or equal to 80% when the first CI was implanted before the age of 7 years, the second CI scores were more than or equal to 80% when the second CI was implanted before the age of 12 to 13 years. The hearing threshold levels were not different regardless of the ages and between the first and second CIs., Conclusion: Our cohort demonstrated that the second CI showed comparable results to the first CI when implanted before 3.5 years, suggesting that optimal periods for the first CI and the second CI are same. However, the sensitive period (12-13 yr) for the second CI with good scores (≥80%) was much longer than that (7 yr) of the first CI, suggesting that the first CI prolongs the sensitive period for the second CI. The second CI should be implanted early, but considered even at a later age.

Background: China has the largest population of children with hearing impairments and cochlear implantation is gaining popularity there. However, the vocabulary development in this population is largely unexplored., Aims: This study examined early vocabulary outcomes, factors influencing early vocabulary development and the relationship between speech perception and vocabulary development in Mandarin-speaking children during the first year of cochlear implant use., Methods and Procedures: A battery of vocabulary tests was administered to 80 children before implantation and 3, 6, and 12 months after implantation. Demographic information was obtained to evaluate their relationships with vocabulary outcomes., Outcomes and Results: The Mandarin-speaking children, who received their cochlear implants before 3 years of age, developed vocabulary at a rate faster than that of their same-aged peers with normal hearing. Better pre-implant hearing levels, younger age at implantation, and higher maternal education level contributed to the early vocabulary development. The trajectories of speech perception development highly correlated with those of vocabulary development during 3 to 12 months of CI use., Conclusions: and Implications: These findings imply that the vocabulary development of children implanted before 3 years of age may catch up with that of their hearing peers., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Introduction and Objectives: Prevalence of congenital sensorineural hearing loss (SNHL) is approximately 1.5-6 in every 1,000 newborns. Dysfunction of the auditory nerve (auditory neuropathy) may be involved in up to 1%-10% of cases; hearing losses because of vestibulocochlear nerve (VCN) aplasia are less frequent. The objectives of this study were to describe clinical manifestations, hearing thresholds and aetiology of children with SNHL and VCN aplasia., Methodology: We present 34 children (mean age 20 months) with auditory nerve malformation and profound HL taken from a sample of 385 children implanted in a 10-year period. We studied demographic characteristics, hearing, genetics, risk factors and associated malformations (Casselman's and Sennaroglu's classifications). Data were processed using a bivariate descriptive statistical analysis (P<.05)., Results: Of all the cases, 58.8% were bilateral (IIa/IIa and I/I were the most common). Of the unilateral cases, IIb was the most frequent. Auditory screening showed a sensitivity of 77.4%. A relationship among bilateral cases and systemic pathology was observed. We found a statistically significant difference when comparing hearing loss impairment and patients with different types of aplasia as defined by Casselman's classification. Computed tomography (CT) scan yielded a sensitivity of 46.3% and a specificity of 85.7%. However, magnetic resonance imaging (MRI) was the most sensitive imaging test., Conclusions: Ten percent of the children in a cochlear implant study had aplasia or hypoplasia of the auditory nerve. The degree of auditory loss was directly related to the different types of aplasia (Casselman's classification) Although CT scan and MRI are complementary, the MRI is the test of choice for detecting auditory nerve malformation., (Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.)

Purpose: The aim in this study was to examine early speech perception outcomes in Mandarin-speaking children during the first year of cochlear implant (CI) use., Method: A hierarchical early speech perception battery was administered to 80 children before and 3, 6, and 12 months after implantation. Demographic information was obtained to evaluate its relationship with these outcomes., Results: Regardless of dialect exposure and whether a hearing aid was trialed before implantation, implant recipients were able to attain similar pre-lingual auditory skills after 12 months of CI use. Children speaking Mandarin developed early Mandarin speech perception faster than those with greater exposure to other Chinese dialects. In addition, children with better pre-implant hearing levels and younger age at implantation attained significantly better speech perception scores after 12 months of CI use. Better pre-implant hearing levels and higher maternal education level were also associated with a significantly steeper growth in early speech perception ability., Conclusions: Mandarin-speaking children with CIs are able to attain early speech perception results comparable to those of their English-speaking counterparts. In addition, consistent single language input via CI probably enhances early speech perception development at least during the first-year of CI use., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

Objective: To assess the impact of moderate-to-severe bilateral hearing loss on schooling and the factors influencing this impact, and to evaluate special schooling needs in addition to speech therapy., Material and Methods: Retrospective study including children with moderate-to-severe bilateral hearing loss, born between 1992 and 2006, diagnosed and managed in our institution. The age and degree of hearing loss in the better ear, the type of schooling and the level of schooling at the time of the last visit were recorded for each patient., Results: Two hundred and twenty-five hearing-impaired children were included: 161 attended a regular school (58% of the 55 children with severe hearing loss and 76% of the 170 children with moderate hearing loss). The percentage of children with moderate hearing loss attending a regular school increased over time. This study did not demonstrate any difference in terms of grade retention according to the age at diagnosis for children with moderate hearing loss. No child with comorbidity affecting intellectual capacities attended a regular school., Conclusion: This study confirms that moderate-to-severe congenital bilateral hearing loss has an impact on the child's schooling, with grade retention that depends, but not exclusively, on the degree of hearing loss. A growing number of children with moderate bilateral hearing loss fitted with a hearing aid now attend a regular school., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Background: Cisplatin is considered safe to use during the second and third trimesters of pregnancy in patients with cancer., Case: A 34-year-old pregnant woman was diagnosed with cervical cancer. She received five weekly dosages of cisplatin and paclitaxel, starting at 26 5/7 weeks of gestation. An elective cesarean delivery was performed at 34 4/7 weeks of gestation. After birth, the neonate was diagnosed with severe bilateral perceptive hearing loss., Conclusion: Cisplatin during the second and third trimesters of pregnancy may lead to fetal ototoxicity.

Objectives: To establish a hearing screening program with high coverage, low referral rate, high follow-up rate, and early intervention in Taipei City., Methods: From September 2009 to December 2010, 85% delivery units in Taipei City, which includes 20 hospitals and 14 obstetrics clinics, were recruited into the screening program in two stages. A total of 15,930 babies were born in these participating hospitals and clinics during the program period. Among these neonates, 15,790 underwent hearing screening test with automatic auditory brainstem response (AABR). The screening was free of charge to the parents. The hearing screening examination was performed 24-36 h after birth. The same test was repeated between 36 and 60 h of age if the baby failed the first hearing test. The neonate was referred to the diagnostic hospitals for further investigations if he failed the second test., Results: The screening coverage rate was 99.1% (15,790/15,930). The incidence of bilateral moderate to severe and unilateral hearing loss was 1.4 per 1000 (22/15,790) and 1.5 per 1000 (24/15,790), respectively. Four percent (626/15,790) of newborns failed to pass the initial screening test and 1.0% of newborns failed to pass the second screening test. Therefore, 1.0% newborns were referred for diagnostic assessments. The follow-up rate was 94.4% (151/160). Sixty-four percent (14/22) of babies with bilateral hearing loss completed the full diagnostic hearing tests within 3 months of birth., Conclusions: The universal newborn hearing screening program is an adequate program for Taipei City with high coverage, low referral rate, and good follow-up rate. Screening fees covered by third parties, two-stage screening steps with AABR strategy, and the stringent monitoring system proved to be effective., Level of Evidence: 2b, individual cohort study., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

Objective: Newborn hearing screening was implemented in Flanders about fifteen years ago. The aim of this study was to determine the aetiology of hearing loss detected by the Flemish screening programme., Methods: From 1997 to 2011, 569 neonates were referred to our tertiary referral centre after failed neonatal screening with Auditory Brainstem Responses. In case hearing loss (HL) was confirmed, further diagnostic testing was launched. A retrospective chart review was performed analysing the degree of HL, risk factor and aetiology., Results: Metabolic disorders (0.5%), infectious diseases (35.8%), congenital malformations (6.1%) and genetic abnormalities (19.8%), whether or not syndromic, were retained. In 35% of the subjects no obvious aetiology could be determined in the current study., Conclusion: In contrast to the literature findings, this series shows a genetic syndromic cause in 80% of the genetic bilateral HL cases. On the other hand connexin positive diagnoses were mostly underrepresented in this study, showing the need for better screening., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

Congenital hearing loss is the total or partial inability to hear sounds through the ears. It is the most common disability in newborns in Chile and worldwide, and is a permanent condition. The direct impact on children who are not adequately diagnosed is the alteration in acquisition of language and cognitive skills and a decline in their social and school insertion, jeopardizing their professional and potentially productive life. Universal screening programs for hearing loss are essential for the diagnosis, since 50% of infants with hearing loss have no known risk factor. Screening before one month of age, confirmation before 3 months, and effective intervention before 6 months, allows the development of these children as if they had normal hearing. In Chile there is a selective program of screening for infants aged less than 32 weeks or 1,500 grams, as part of Explicit Health Guarantees, but it covers only 0.9% of newborns per year. Therefore, a large majority of children remain without diagnosis. The aim of this review is to compare the situation in Chile with other countries, raising the need to move towards a universal neonatal hearing loss screening program, and propose necessary conditions in terms of justification and implementation of a universal screening public policy.

Objective: To clarify the prevalence and clinical characteristics of cochlear nerve deficiency (CND) in patients with congenital bilateral and unilateral hearing loss., Study Design: Retrospective case review., Setting: Tertiary referral center., Patients: One hundred fourteen children with bilateral and 56 children with congenital unilateral sensoneural hearing loss., Main Outcome Measures: Review of medical records, audiologic tests, and imaging studies. Imaging studies were evaluated for the presence or absence of abnormalities in the bony cochlear nerve canal (BCNC), internal auditory canal (IAC), and inner ear., Results: The prevalence of CND, whether unilateral or bilateral, was much higher in the unilateral than in the bilateral hearing loss group: 50% (28/56) versus 5.3% (6/114). Among the 6 children with bilateral hearing loss and CND, 2 had bilateral BCNC stenosis alone, 2 had bilateral BCNC stenosis and unilateral IAC stenosis, 1 had unilateral BCNC stenosis alone, and 1 had unilateral IAC stenosis alone. All 28 children with unilateral hearing loss and CND had BCNC stenosis, whereas 9 (32.1%) also had concurrent IAC stenosis. Three of the 6 children with CND and bilateral hearing loss and 5 of the 28 children with CND and unilateral hearing loss also had other inner ear abnormalities., Conclusion: Our results suggest differences in the causes and mechanisms of CND in children with bilateral versus unilateral hearing loss.

Tetrasomy 18p is a rare chromosomal disease (1:140,000 live births), which affects females and males equally, and might be hereditary or caused by spontaneous changes (de novo formation) within the chromosome. The phenotype results from the presence of a small extra metacentric marker chromosome, an isochromosome 18p. The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, microcephaly, short statue, minor facial dysmorphic features, congenital heart diseases, uro/renal malformations, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk. To our knowledge sensorineural hearing loss is described in the literature but has not been described as a typical phenotypic symptom of tetrasomy 18p.In the following report, a boy with tetrasomy 18p is described. In addition to psychomotor retardation with muscular hypotonia and orofacial dismorphysms, bilateral severe hearing loss was diagnosed. Thus, in all infants with known chromosomal aberration, early diagnostic procedures must be performed to unveil sensorineural hearing loss that might be overseen because of mental retardation. In particular, a brainstem-evoked response audiometry (BERA) should be considered for early diagnosis and treatment of possible hearing loss. Furthermore, in all children with developmental delay and dysmorphic features a chromosomal analysis should be initiated.

This is a consensus statement on pediatric cochlear implantation by the European Bilateral Pediatric Cochlear Implant Forum. The consensus statement was determined by review of current scientific literature to identify areas of scientific and clinical agreement of current understanding of bilateral cochlear implantation. The statement is "Currently we feel that the infant or child with unambiguous cochlear implant candidacy should receive bilateral cochlear implants simultaneously as soon as possible after definitive diagnosis of deafness to permit optimal auditory development; an atraumatic surgical technique designed to preserve cochlear function, minimize cochlear damage, and allow easy, possibly repeated re-implantation is recommended."

Objective: Universal newborn hearing screening for bilateral permanent congenital hearing impairment is standard practice in many developed economies, but until there is clear evidence of cost-effectiveness, it remains a controversial use of limited health care resources. We conducted a formal systematic review of studies of newborn hearing screening that considered both costs and outcomes to produce a summary of the available evidence and to determine whether there was a need for further research., Methods: A search was conducted of medical and nursing databases and gray literature websites by the use of multiple keywords. The titles and abstracts of studies were examined for preliminary inclusion if reference was made to newborn hearing screening, and to both costs and outcomes. Studies of potential relevance were independently assessed by 2 health economists for final inclusion in the review. Studies that met inclusion criteria were appraised by the use of existing guidelines for observational studies, economic evaluations and decision analytic models, and reported in a narrative literature review., Results: There were 22 distinct observational or modeled evaluations of which only 2 clearly compared universal newborn hearing screening to risk factor screening for bilateral permanent congenital hearing impairment. Of these, the single evaluation that examined long-term costs and outcomes found that universal newborn hearing screening could be cost-saving if early intervention led to a substantial reduction in future treatment costs and productivity losses., Conclusions: There are only a small number of economic evaluations that have examined the long-term cost-effectiveness of universal newborn hearing screening. This is partly attributable to ongoing uncertainty about the benefits gained from the early detection and treatment of bilateral permanent congenital hearing impairment. There is a clear need for further research on long-term costs and outcomes to establish the cost-effectiveness of universal newborn hearing screening in relation to other approaches to screening, and to establish whether it is a good long term investment., (Copyright © 2012 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.)

Background: Since 01.01.2009 in Germany a newborn hearing screening (UNHS) is obligatory for every child. The UNHS is part of the guidelines for the prevention of diseases for children up to 6 years of age (Kinder-Richtlinien). 2 years after its introduction in Bavaria, we now evaluate whether the UNHS has been implemented successfully,and if the quality criteria of the guidelines have been met., Methods: In the guidelines details for the procedure and screening quality are given. The UNHS data from the screening facilities in Bavaria were evaluated for process quality criteria like screening coverage, screening method, REFER rate (rate of failed tests) and child age at diagnosis., Results: More than 96 % of all newborns were screened. The REFER rate for 2010 was 4.5 %. Only 18 % of the controls were done by a paediatric audiologist.In 38.5 % of the newborns an intervention of the screening centre was necessary to assure controlling of a failed screening test. In 2009 the median age at diagnosis for a bilateral hearing loss was 5.5 months, and the start of therapy was 6.2 months., Conclusion: In Bavaria the UNHS was implemented successfully. A tracking system for all children who failed the hearing screening test is pivotal for the early diagnosis of children with bilateral hearing deficiency.

Conclusion: This universal newborn hearing-screening (UNHS) programme revealed high efficacy. The proportion of congenital sensorineural hearing loss was higher in left ears and in males than in right ears and females, which was in line with the systematic ear asymmetries and sex differences in transient-evoked otoacoustic emission (TEOAE) pass percentage., Objectives: To study the long-term outcome of a UNHS programme based on multiple TEOAEs and clinical click-evoked auditory brainstem response (ABR)., Method: The study included all the newborns that were screened during a 6-year period (n = 31 092). TEOAE pass/fail was analysed in detail. In an assessment performed 10 years after the start of the 6-year UNHS, prevalence, degree and type of congenital hearing loss were studied., Results: The proportion of screened newborns was high, i.e. 98%. Multiple TEOAE recordings minimized the need for clinical ABR. Fifty-seven (0.18%) subjects showed bilateral hearing loss (exceeding ≈ 30 dB HL); median ABR threshold = 60 dB nHL (at 2.5 months of age). Bilateral and unilateral sensorineural hearing loss was found in 0.17% (n = 52; 56% males) and 0.06% (n = 18; 61% left ears, 56% males) of the screened newborns, respectively. Higher TEOAE pass percentages (p < 0.01) were demonstrated in right ears and in females than in left ears and males.

Objective: To describe our surgical and audiometric experience using different active middle ear implant strategies facing various anatomic situations in aural atresia., Study Design: Retrospective case review., Setting: Tertiary academic referral center., Patients: Five patients with congenital aural atresia, (3 unilateral and 2 bilateral), with mean age of 22.4 years (range, 12-44 yr), referred for hearing rehabilitation., Intervention: Active middle ear implant on stapes capitulum., Main Outcome Measures: Description of surgical implantation with different active middle ear implants. Preoperative and postoperative air conduction, bone conduction, and aided and unaided thresholds and speech scores were measured, at mid to long term. Subjective benefit analysis was determined through the Abbreviated Profile of Hearing Aid Benefit questionnaire., Results: After activation and fitting of the devices, a mean functional gain of 32.5 dB hearing level was measured. Speech tests in quiet showed a mean functional gain of 20.2 dB. Patients had a mean follow-up period of 12 months. No intraoperative or postoperative complications were noted. Furthermore, we reflected on new coupling possibilities, especially in a difficult case with stapes-footplate fixation where no approach of the round window was feasible because of aberrant facial nerve course., Conclusion: Facing anatomic variations in congenital aural atresia, active middle ear implants can provide substantial hearing improvement in safe conditions and open new strategies for hearing rehabilitation.

One of the topical problems of modern pediatric audiology is early diagnostics of congenital sensorineural loss of hearing in children and their timely rehabilitation. The objective of the present study was to obtain audiological characteristics of sensorineural hearing impairment associated with GJB2 gene mutations in children during the first year of life. The methods used were registration of short-latency auditory evoked potentials (slAEP) and the otoacoustic emission (OAE) techniques. The study included 66 children at the age of several months presenting with bilateral sensorineural loss of hearing who were available for the examination by an otorhinolaryngologist, tympanometry, slAEP recording, delayed EOAE (dEOAE) and distortion-product frequency OAE (dpOAE) techniques, and genetic counseling. The examination was carried out in duplicate, with an interval of 3 months. The genotype containing GJB2 gene mutations was identified in 47 (71.2%) children. The 35delG mutation was found in 41; in 31 of them it occurred in the homozygous state and in 10 in the heterozygous state. In the latter group, 8 children had the 35delG mutation in the compound heterozygous state together with one more mutation. Six children turned out to carry a pathological genotype with other GJB2 gene mutations. It was shown that OAE fails to be recorded in most patients with hearing impairment due to GJB2 gene mutations during the first months of life. The authors conclude that these mutations usually lead to the development of persistent bilateral symmetric sensorineural loss of hearing.

Aim: To demonstrate diagnostic imaging of an extremely rare presentation of bilateral narrow duplication of the internal auditory canal., Case Report: An adolescent boy with profound sensorineural hearing loss presented for hearing rehabilitation. Imaging studies (i.e. multidetector computed tomography and magnetic resonance imaging) clearly demonstrated bilateral duplication of the internal auditory canals, with narrowing of the lower canals, unilateral cochlear and vestibular dysplasia, bilateral superior semicircular canal malformation, and bilateral absence of the posterior semicircular canals., Conclusion: To our knowledge, this is only the third such case described in the literature. Considering that the vestibulocochlear nerve has been unable to be demonstrated in almost all cases of duplicated internal auditory canal (unilateral and bilateral), our case supports the hypothesis that vestibulocochlear nerve aplasia or hypoplasia leads to internal auditory canal stenosis. We consider this rare presentation of bilateral narrow duplication of the internal auditory canal to represent a contraindication for cochlear implantation.

We report a case of bilateral superior semicircular canal dehiscence (SSCD) in a 38-year-old man who presented with congenital hearing loss without vestibular symptoms. This case is unusual due to the association of SSCD with multiple congenital anomalies of the external, middle, and inner ears, but without any other craniofacial or systemic developmental anomalies. Findings of multiple malformations of temporal bone structures in this case lend support to the theory that SSCD may have an underlying developmental or congenital etiology.

Purpose: The purpose of this study was to clarify the long-term prognosis of young children with congenital or acquired hearing loss., Patients: The subjects consisted of 9 young children (18 ears) in whom auditory training was performed in the Kochi Prefectural Center for Hearing Impaired Children, and the course of hearing could be observed until the age of at least 10 years., Methods: The annual course of hearing was evaluated based on the results of play audiometry and pure-tone audiometry that facilitated the differentiation of hearing between the left and right ears. In the first examination, stable values were obtained after some tests and used as reference values. As the representative value at each age, the arithmetic mean of the pure-tone averages obtained by all hearing tests performed during the year was used., Results: The course of hearing was observed from 2 to 24 years of age, and the observation period was 6-18 years (mean 13.2 years). Hearing was aggravated in 13 ears, of which 8 (4 patients) showed marked and 5 (3 patients) showed slight aggravation. Hearing was unchanged in 5 ears (3 patients)., Conclusions: Hearing loss often progressed bilaterally. There were two progression patterns: rapid aggravation during early childhood, followed by gradual aggravation, and gradual aggravation over the entire course. The aggravation of hearing may be associated with the degree of impairment and vulnerability of the auditory organs.

Objective: The purpose of this study was to determine the prevalence and etiology of congenital or early acquired bilateral sensorineural hearing impairment (SNHI) in children born from 1988 to 2002 in the district of Kuopio University Hospital, Finland, and to compare the results with those from an earlier 14-year period in the same region and similar population., Methods: The data were collected retrospectively from Hospital Records. The degree of hearing impairment was based on average air conduction threshold calculated over the frequencies 0.5, 1, 2 and 4 kHz in the better hearing ear. Hearing impairment was classified as mild (≥ 20-39 dB), moderate (40-69 dB), severe (70-95 dB) and profound (>95 dB)., Results: We identified 92 children with bilateral SNHI diagnosed before the age of 7 years. The overall prevalence and the prevalence for at least moderate SNHI was 2.1 per 1000 live births and 1.2 per 1000 live births, respectively. We found no differences in the prevalence of SNHI during both study periods. Etiology was genetic in 46%, acquired in 14% and unknown in 40%. Out of the genetic cases 74% were non-syndromic and 26% were syndromic. In comparison to the previous study there was a decline in the proportion of acquired SNHI and the proportion of genetic and unknown cause had increased. Six children in five families had homozygous 35delG mutation and six children in four families presented with a homozygous M34T mutation., Conclusions: The prevalence of congenital or early acquired SNHI in the Kuopio University Hospital district area has not changed during a period of 29 years. Despite possibility to test the GBJ2 gene, the proportion of hearing impairment of unknown etiology remained high.

This study attempts to answer the question of whether there is a 'critical age' after which a second contralateral cochlear implant is less likely to provide enough speech perception to be of practical use. The study was not designed to predict factors that determine successful binaural implant use, but to see if there was evidence to help determine the latest age at which the second ear can usefully be implanted, should the first side fail and become unusable.Outcome data, in the form of speech perception test results, were collected from 11 cochlear implant programmes in the UK and one centre in Australia. Forty-seven congenitally bilaterally deaf subjects who received bilateral sequential implants were recruited to the study. The study also included four subjects with congenital unilateral profound deafness who had lost all hearing in their only hearing ear and received a cochlear implant in their unilaterally congenitally deaf ear. Of those 34 subjects for whom complete sets of data were available, the majority (72%) of those receiving their second (or unilateral) implant up to the age of 13 years scored 60 per cent or above in the Bamford Kowal Bench (BKB) sentence test, or equivalent. In contrast, of those nine receiving their second or unilateral implant at the age of 15 or above, none achieved adequate levels of speech perception on formal testing: two scored 29 per cent and 30 per cent, respectively, and the rest seven per cent or less.A discriminant function analysis performed on the data suggests that it is unlikely that a second contralateral implant received after the age of 16 to 18 years will, on its own, provide adequate levels of speech perception. As more children receive sequential bilateral cochlear implants and the pool of data enlarges the situation is likely to become clearer.The results provide support for the concept of a 'critical age' for implanting the second ear in successful congenitally deaf unilateral cochlear implant users. This would argue against 'preserving' the second ear beyond a certain age, in order to use newer models of cochlear implant or for the purpose of hair cell regeneration and similar procedures in the future. The results suggest a new and more absolute reason for bilateral implantation of congenitally deaf children at an early age.

Conclusions: Patients with large vestibular aqueduct syndrome (LVAS) have disturbed morphogenesis of bony labyrinth. Semicircular canal anomalies are common in LVAS., Objective: To describe the additional inner ear anomalies on CT imaging in pediatric patients with LVAS, and to investigate the lateral semicircular canal (LSCC) anomalies associated with LVAS by measurement of the LSCC bony island width., Patients and Methods: We retrospectively reviewed the digitally stored temporal bone CT imaging obtained for 23 patients with LVAS, additional inner ear anomalies were noted, and measurements of the LSCC bony island width were made on axial CT scans on the workstation. Measurements were compared to the normative data obtained from 20 patients without sensorineural hearing loss., Results: Of the 23 patients (bilateral in 22 and unilateral in 1), additional inner ear malformations were identified in 21 cases presenting either singly or in combination. A small LSCC bony island (<3 mm in diameter) appeared highly typical; vestibule and LSCC anomalies were identified in 13 cases (26 ears) based on visual inspection combined with abnormal measurements. Dehiscence of the superior and/or posterior semicircular canal was identified in 19 ears, and Mondini deformity was identified in 6 ears.

Autosomal dominant nonsyndromic hearing loss (ADNSHL) accounts for about one-fifth of hereditary hearing loss in humans. In the present study, we have analyzed a three-generation family with 14 of its members manifesting ADNSHL, using a genome-wide linkage mapping approach. We found a novel locus DFNA59 between the D11S929 and D11S480 markers in the chromosome location 11p14.2-q12.3. The highest two-point lod score of 5.72 at recombination fraction = 0 was obtained for D11S4152, D11S4154, D11S1301, D11S905 and D11S1344. The critical genomic region comprising about 37 megabases of DNA is proposed to carry a gene for ADNSHL in the family. About 50 cochlear-expressed genes mapping to the region are strong candidates which we propose to examine to identify the gene responsible for the hearing impairment.

The Baha (bone-anchored hearing aid) Softband appears to be an effective mean of hearing rehabilitation for children with a congenital bilateral aural atresia who are too young for the amplification of a Baha on an implant. The aided hearing threshold with a Baha Softband is almost equal to that achieved with a conventional bone conductor. The speech development of the children studied with a Baha Softband is on a par with peers with good hearing.

Description: This is the 2008 update of the 2001 US Preventive Services Task Force recommendation on universal newborn hearing screening., Methods: The US Preventive Services Task Force weighed the benefits and harms of universal newborn hearing screening, incorporating new evidence addressing gaps identified in the 2001 US Preventive Services Task Force recommendation statement. Published literature on this topic was identified (by using Medline and Cochrane databases) and systematically reviewed., Recommendation: Screen for hearing loss in all newborn infants (B recommendation).

Microtia, a congenital deformity manifesting as an abnormally shaped or absent external ear, occurs in one out of 8,000-10,000 births. We ascertained a consanguineous Iranian family segregating with autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment, and partial cleft palate. Genome-wide linkage analysis localized the responsible gene to chromosome 7p14.3-p15.3 with a maximum multi-point LOD score of 4.17. In this region, homeobox genes from the HOXA cluster were the most interesting candidates. Subsequent DNA sequence analysis of the HOXA1 and HOXA2 homeobox genes from the candidate region identified an interesting HOXA2 homeodomain variant: a change in a highly conserved amino acid (p.Q186K). The variant was not found in 231 Iranian and 109 Belgian control samples. The critical contribution of HoxA2 for auditory-system development has already been shown in mouse models. We built a homology model to predict the effect of this mutation on the structure and DNA-binding activity of the homeodomain by using the program Modeler 8v2. In the model of the mutant homeodomain, the position of the mutant lysine side chain is consistently farther away from a nearby phosphate group; this altered position results in the loss of a hydrogen bond and affects the DNA-binding activity.

Objective: To evaluate the effect of age at implantation by assessment of speech perception in cochlear implant users with bilateral congenital deafness., Design: A retrospective cohort analysis of 60 cochlear implant users (age at implantation, 1.01 to 22.0 yr) who have at least 2 yr of experience. Their outcome performance was defined by the change in i) speech perception category (SPC) score based on postoperative assessment results and ii) the type of education attended after implantation. The association of age at implantation with SPC scores was analyzed at different ages at implantation (2, 3, 4, 5, and 6 yr old). The SPC scores for a particular age at implantation were compared at 6, 12, and 24 mo after implantation. The impact of age at implantation on choice of education was evaluated by analyzing the transition from a school for the deaf to mainstream education for the 45 children who were operated on before the age of 10, because older children are less likely to make such a change., Results: Children implanted at the ages of 2, 3, 4, 5, and 6 yr all obtained significant improvements in SPC scores 24 mo after implantation. The greatest improvement was noted at 24 mo after implantation among those operated on before age 3. For all age groups, improvement at 24 mo after implantation is greater than at 12 mo, whereas the latter is greater than the improvement noted at 6 mo after implantation. Comparison of children implanted before the age of 3 and between ages 3 and 10 showed a significant difference in the choice of education after implantation. Children who were implanted before the age of 3 were more likely to attend mainstream education after implantation., Conclusion: Results from the present study are consistent with the current belief that implantation at a younger age provides greater benefit. The proportion of children attending mainstream education was significantly higher for those implanted before age 3, which may be a potential benefit to early implantation for relieving the burden of governments in providing special education.

A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. A maximum two-point lod score of 6.98 at theta = 0 was obtained for marker D11S1337 (68.55 cM). Genotyping of 550 families revealed three additional families (PKDF295, PKDF702 and PKDF817) segregating hearing loss linked to chromosome 11q13.2-q13.3. Meiotic recombination events in these four families define a critical interval of 4.81 cM bounded by markers D11S4113 (68.01 cM) and D11S4162 (72.82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system.

The route of the cochlear nerve can be imaged using computed tomography (CT) or magnetic resonance imaging (MRI). To gain information about the cochlear nerve, we conducted a trial measuring the width of the cochlear nerve canal (CNC) using CT. When we examined images of the route of the cochlear nerve on MRI, both in ears with congenital sensorineural hearing loss (SNHL) and normal ones, we found that in ears in which the CNC was narrower than 1.5 mm with CT, images of cochlear nerve deficiency could be seen in that ear with MRI., (Copyright (c) 2007 S. Karger AG, Basel.)

Objective: Aim of the study was to assess the mean age at diagnosis of bilateral congenital hearing loss in the Audiology and Phoniatry Centre of the University of Turin, pointing out, by North-West Italy experience, the role of the newborn hearing screening in anticipating the age of diagnosis., Methods: This was a retrospective study. Forty-six congenital deaf babies were reviewed and age at diagnosis was assessed for each, taking in consideration the role of hearing loss risk factors. Eighteen babies (39%) were sent by the centres that participate to the newborn hearing screening program while 28 (61%) came for parental or pediatrician suspicion of hearing loss and for general language delay. Sixteen babies (35%) presented risk factors for hearing loss., Results: The mean age of identification of severe to profound hearing loss was 20.5 months (S.D.=15.3) in the whole group; considering the group of 28 babies not screened the mean age was 29.3 months (S.D.=13.4). This value decreased to 6.8 months (S.D.=3.6) in the group which underwent screening programme. This difference was statistically significant at Student's t-test (p<0.001). The average ages of diagnosis for healthy versus high risk children were significantly different only in the group of screened babies (p<0.05)., Conclusions: Childhood hearing impairment is one of the most common of congenital disorders, and even though there is a general trend of early identification, in reality age of diagnosis is as yet still too late even in developed countries. Our results show that newborn hearing screening could reduce the age at which infants with hearing loss are diagnosed and treated; this would improve speech, language, auditory outcome and the quality of parents and infant life.

Objective: The objective of this study was to determine the effectiveness in routine practice of the first phase of a national population-based newborn hearing screening and follow-up program that seeks to identify infants with bilateral permanent hearing loss of > or =40-dB hearing loss., Methods: The study was a part of the independent evaluation of the 23 first phase sites (annual birth population approximately 120,000) of the national newborn hearing screening program in England. For each infant identified with the defined hearing loss, the measures of interest were degree and type of hearing loss, presence of risk factors, age of first audiologic assessment, age of identification of hearing loss, age of enrollment in an early support program, and age of hearing aid fitting. Data collection took place over the first 2 years of the program., Results: Data were provided on 169 infants with permanent bilateral moderate or greater hearing loss identified through screening 169487 infants. Fifty-four percent of all cases were from an "at-risk" population. Three fourths of these "at-risk" infants spent > or =48 hours in the NICU. For the whole sample, the median age at first audiologic assessment was 5 weeks; the median age of identification of the hearing loss and of enrollment in early support program was 10 weeks irrespective of the degree of hearing loss; and the median age at hearing aid fitting was 16 weeks. Infants with moderate hearing loss were fitted with hearing aids significantly later than those with severe and profound hearing loss., Conclusions: Properly implemented, a newborn hearing screening program based on whole populations and routine service provision can deliver satisfactory outcomes in terms of age of referral, identification, and intervention. The distribution of degree and type of hearing loss and proportion with risk factors was similar to that expected. The numbers identified were such as to suggest that very few cases were missed by the screening program.