Cochlear nerve dysplasia in unilateral severe to profound congenital sensorineural hearing loss - Prevalence in Australian children and the impact of socioeconomic disadvantage on its management.

INTRODUCTION: Congenital unilateral sensorineural hearing loss (cuSNHL) carries potentially significant social, educational, and developmental consequences. Early diagnosis enables investigation, and consideration of options for management and early intervention, helping to mitigate the effects of hearing loss. Cochlear nerve dysplasia (CND) is a prominent cause of cuSNHL and may affect candidacy for cochlear implantation. Socioeconomic disadvantage may impact on a patient's family's capacity to participate in necessary intervention and follow-up. METHODS: Infants with severe-profound cuSNHL referred to a large Australian quaternary pediatric center between October 2004 and December 2020 were retrospectively included. Audiometric and clinical data, and the presence of hearing loss risk factors were obtained from a prospectively collated database. In Australia MRI scans are provided free-of-charge to citizens and residents. MRI scans were reviewed to determine the status of the nerves within the internal acoustic meatus (IAM grade) along with attendance rates. Travel distance to the hospital was also calculated. Reasons for non-attendance at MRI were obtained from patient medical records and correspondence. Socioeconomic, educational, and occupational indices, and travel distances were obtained using patient residential postcodes with reference to Australian Bureau of Statistics data. RESULTS: A total of 98 patients were reviewed, 64.3% (n = 63) of whom underwent MRI. The median age at diagnosis was 40 days (IQR 27). The prevalence of CND was 75% (n = 47). Importantly, there was no significant difference in the degree of hearing loss between IAM grades (F(4,57) = 1.029, p = 0.405). Socioeconomic indices were significantly lower in patients not attending MRI investigations compared with patients who did attend. Travel distance was not significantly different between the two groups. CONCLUSION: CND is a prominent cause of cuSNHL in Australian infants. MRI at a young age allows parent education regarding management options and timely intervention where indicated. Socioeconomic disadvantage significantly impacts on participation in further routine assessment of cuSNHL, potentially limiting management options for these children long term.

Isolated Incudostapedial Cholesteatomas: Unique Radiologic and Surgical Features.

OBJECTIVES: Congenital cholesteatomas originate from epithelial tissue present within the middle ear in patients with an intact tympanic membrane, no history of otologic surgery, otorrhea, or tympanic membrane perforation. They are diagnosed by a pearl-like lesion on otoscopy and computed tomography (CT) scan showing an expansile soft-tissue mass. We describe a series of patients with no prior otologic history presenting with progressive unilateral conductive hearing loss and normal otoscopy. The CT scans showed ossicular erosion without obvious soft-tissue mass. Surgery confirmed incudostapedial erosion found to be cholesteatoma. In this study, we characterize the clinical course of patients diagnosed with isolated incudostapedial cholesteatoma (IIC) and review possible pathologic mechanisms. METHODS: Retrospective review of IIC cases treated by the Department of Pediatric Otolaryngology, Rady Children's Hospital, San Diego, 2014 to 2020. Data included patient demographics, clinical features, imaging, surgical findings, and audiologic data. RESULTS: Five patients were diagnosed with IIC (3 [60%] female; mean age at presentation 10.7 years [range 5.5-16.0]). All patients presented with postlingual unilateral conductive hearing loss and normal otoscopy without any past otologic history; delay in diagnosis ranged from 4 months to several years. The CT scans showed ossicular chain erosion with an absent long process of the incus and/or stapes superstructure. All patients underwent middle ear exploration, revealing a thin layer of cholesteatoma in the incudostapedial region, confirmed by histopathology. Mean preoperative speech reception threshold was 55 dB and improved to a mean of 31 dB in the 4 patients who underwent ossicular chain reconstruction. CONCLUSION: Isolated incudostapedial cholesteatoma should be included as a possible etiology in pediatric patients with insidious onset of unilateral conductive hearing loss with normal otoscopy, unremarkable otologic history, and a CT scan showing ossicular abnormality/disruption without notable middle ear mass. These patients should be counseled preoperatively regarding the possibility of cholesteatoma and should undergo middle ear exploration with possible ossiculoplasty.

Persistent stapedial artery in PHACE syndrome.

INTRODUCTION: PHACE syndrome is characterized by posterior fossa malformations, haemangioma, arterial anomalies, coarctation of the aorta, and eye abnormalities. CASE REPORT: We present the case of a 6-year-old girl followed since birth for PHACE syndrome and left hemifacial haemangioma, who presented with left hearing loss. Computed tomography scan showed left persistent stapedial artery (PSA). DISCUSSION: Two types of arterial anomalies may be observed in PHACE syndrome: persistence of embryonic arteries and anomalies of cerebral arteries. PSA can be observed in the context of PHACE syndrome. Children with PHACE syndrome require regular audiometric follow-up to detect hearing loss and avoid its consequences on speech and language development.

Three-year experience with the Sophono in children with congenital conductive unilateral hearing loss: tolerability, audiometry, and sound localization compared to a bone-anchored hearing aid.

Bone conduction devices (BCDs) are advocated as an amplification option for patients with congenital conductive unilateral hearing loss (UHL), while other treatment options could also be considered. The current study compared a transcutaneous BCD (Sophono) with a percutaneous BCD (bone-anchored hearing aid, BAHA) in 12 children with congenital conductive UHL. Tolerability, audiometry, and sound localization abilities with both types of BCD were studied retrospectively. The mean follow-up was 3.6 years for the Sophono users (n = 6) and 4.7 years for the BAHA users (n = 6). In each group, two patients had stopped using their BCD. Tolerability was favorable for the Sophono. Aided thresholds with the Sophono were unsatisfactory, as they did not reach under a mean pure tone average of 30 dB HL. Sound localization generally improved with both the Sophono and the BAHA, although localization abilities did not reach the level of normal hearing children. These findings, together with previously reported outcomes, are important to take into account when counseling patients and their caretakers. The selection of a suitable amplification option should always be made deliberately and on individual basis for each patient in this diverse group of children with congenital conductive UHL.

The universal newborn hearing screening program of Taipei City.

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.

Unilateral cochlear nerve deficiency in children.

OBJECTIVE: Cochlear nerve deficiency (CND) is increasingly diagnosed in children with sensorineural hearing loss (SNHL). We sought to determine the prevalence of CND, its imaging characteristics, and correlations with audiologic phenotype in children with unilateral SNHL. DESIGN: Case series with chart review. SETTING: Tertiary pediatric hospital. SUBJECTS/METHODS: In 128 consecutive children with unilateral SNHL who underwent high-resolution magnetic resonance imaging, the diameters, area, and signal intensity of the cochlear nerve (CN) were measured and normalized to the ipsilateral facial nerve. Presence of CND was determined by comparison to normative data. Relationships among hearing loss severity, progression, and nerve size were investigated. RESULTS: Cochlear nerve deficiency was present in 26% of children with unilateral SNHL. Its prevalence was higher (48%) in severe to profound SNHL, especially when in infants (100%). Width of the bony cochlear nerve canal (BCNC) correlated strongly with relative CN diameter, density, and area (R = 0.5); furthermore, a narrow BCNC (<1.7 mm) strongly predicted CND. Severity of hearing loss modestly correlated with nerve size, although significant variability was observed. Progression never occurred unless there were other inner ear malformations, whereas in the non-CND group, it occurred in 22%. Ophthalmologic abnormalities were very common (67%) in CND children, particularly oculomotor disturbances. CONCLUSION: Cochlear nerve deficiency is a common cause of unilateral SNHL, particularly in congenital unilateral deafness. Width of the BCNC effectively predicts CND, a finding useful when only computed tomography imaging is available. In an ear with CND, hearing can be expected to remain stable over time. Diagnosis should prompt evaluation by an ophthalmologist.

Atresia aural congênita unilateral / Unilateral congenital aural atresia

A atresia do canal auditivo externo (ACAE) é uma disordem congênita rara. A ACAE unilateral é de 3 a 6 vezes mais comum que a atresia bilateral. Tradicionalmente, não se acreditava que a ACAE unilateral fosse limitante ao desenvolvimento da linguagem da criança. No entanto, terapias recentes para perda auditiva têm demonstrado a importância da audição bilateral para um ótimo desenvolvimento da fala e da linguagem. Além disso, a audição bilateral é importante na localização de ruídos. Por isso exige diagnóstico rápido, aconselhamento genético e avaliação precoce da audição. Deve-se aconselhar adequadamente e encaminhar essas crianças e suas famílias para que possam ser avaliadas as opções de tratamento e indicações para intervenção. Avaliação clínica, audiológica e com estudo tomográfico de alta resolução do osso temporal é essencial para obter resultados satisfatórios e prevenir complicações na seleção de candidatos adequados para a cirurgia ou para avaliação do paciente, opções de tratamento, época de tratamento cirúrgico, critérios de seleção cirúrgica, técnicas cirúrgicas, complicações, prognóstico e controvérsias atuais relacionadas à atresia aural congênita serão discutidos.

Audiological evaluation and self-assessed hearing problems in subjects with single-sided congenital external ear malformations and associated conductive hearing loss.

Previously, unilateral hearing impairment (UHI) has been considered of little consequence. However, a recent meta-analysis of children with UHI displayed educational and behavioural problems and possible delays of speech and language development. Further, patients with UHI consequently report hearing difficulties. Our study investigated hearing function, possible inner ear protection, and self-assessed hearing problems in 57 subjects aged between 3-80 years with single-sided congenital ear malformations and conductive UHI. Pure-tone thresholds and speech recognition (quiet, noise) were measured, and all patients completed a self-assessment questionnaire. Pure-tone thresholds corresponding to sensorineural function did not significantly differ between the normal (air conduction) and affected ear (bone conduction). However, speech recognition in both quiet and in noise was normal on the non-affected side but significantly worse on the malformed side. A moderate to high degree of self-assessed hearing problems were reported. In conclusion, hearing function in the affected ear was found to be subnormal in terms of supra threshold signal processing. Furthermore, a high degree of hearing difficulty was reported. Therefore, active treatment, surgery, or hearing amplification, might be considered.