Pediatric Sensorineural Hearing Loss Research Articles

Book Review: Pediatric Sensorineural Hearing Loss: Clinical Diagnosis and Management. Edited by Samantha Ann, Judith Lieu, Margaret Kenna. Plural Publishing, San Diego, California, 2018.

Louisiana State University, New Orleans, Louisiana [email protected] The author discloses no conflicts of interest.

Utilization of diagnostic testing for pediatric sensorineural hearing loss

Background/ObjectiveSensorineural hearing loss is a common diagnosis among children. The diagnostic workup varies widely among practitioners. This study's aim was to assess the utilization of diagnostic testing for SNHL and determine the yield of each test. Study designRetrospective chart review. SettingTertiary care center. Subjects827 patients with a diagnosis of SNHL from January 1, 2011 to January 1, 2015. Results746 patients met inclusion criteria. Temporal bone imaging was performed on 561 (75%) of patients with 224 (40%) having positive results that explained the etiology of the SNHL. Congenital SNHL was more likely to be associated with abnormal imaging than acquired SNHL (109/299 versus 106/316 respectively) (p = 0.001). Unilateral SNHL was more likely to be associated imaging abnormalities than bilateral SNHL (101/221 and 123/340 respectively) (p = 0.028). Genetic testing was performed on 244 (33%) patients, of which 94 (39%) had abnormalities. Positive genetics results were more common with bilateral than unilateral SNHL (82/191 and 12/53 respectively) (p = 0.007). There was no statistically significant difference in the utility of genetic testing for congenital and acquired SNHL (p = 0.0836). Cytomegalovirus (CMV) testing was available for 104 (14%) of patients with 13 (12.5%) being positive and consistent with congenital CMV. Electrocardiogram, urinalysis, and Lyme titers were less useful. ConclusionsImaging and genetic testing had the highest yield in the evaluation of children with SNHL and were the most commonly performed. CMV testing was valuable in neonates who failed newborn hearing screening.

Engglis

Pediatric sensorineural hearing loss can cause delay in speech and daily social communication. The causative factors are infectious or non infecious. The role of infectious risk factors in pediatric sensorineral hearing loss has been proven. However, the role of non infectious factors has not been reported, yet. The aim of the study was to evaluate the role of non infectious factors in pediatric sensorineural hearing loss (SNHL). This was a case control study using data collected from outpatients and medical records in Dr. Sardjito General Hospital, Yogyakarta from June to December 2015. The inclusion criteria of case group were children with SNHL and aged 0 – 5 years old, whereas the inclusion criteria of control group was children with normal hearing and aged 0-5 years old. The exclusion criteria were children with history of infectious risk factors and head trauma. Hearing status were determined by Otoacoustic Emission Testing (OAE) and Brainstem Evoked Response Auditory (BERA), based on a= 5%, b = 20%; OR asumption = 3.0. Sixty two subjects were selected with 31 subjects in each group. Multivariate analysis showed that low birth weight (LBW) (p=0.018; OR=6.553; 95% CI=1.38 – 31.13) and asphyxia (p= 0.041; OR=6.448; 95% CI=1.077 – 38.595) were risk factors, while hyperbilirubinemia (p= 0.382; OR=2.46; 95% CI=0.365 – 13.805) and gestation (p=0.876; OR=0.831; 95% CI=0.081 – 8.483) were not risk factors for pediatric SNHL. In conclusion, LBW and asphyxia are risk factors for pediatric SNHL, whereas prematurity and hyperbilirubinemia are not risk factors.

Evaluation and management of nonsyndromic congenital hearing loss.

Nonsyndromic congenital hearing loss represents the largest proportion of paediatric sensorineural hearing loss. The optimal evaluation and management of affected patients remains clinically challenging. Current controversies in the diagnostic work-up of nonsyndromic congenital hearing loss are presented in this review. The improved diagnostic yield of comprehensive genetic testing due to new sequencing technologies is changing the diagnostic for congenital hearing loss. Concerns for both ionizing radiation and general anaesthetic exposure are also driving shifts in imaging modality preferences for infants and toddlers. A thoughtful systematic, targeted approach taking into consideration the audiologic phenotype of the patient is recommended for the work-up of nonsyndromic congenital hearing loss.

Inner ear malformations: A practical diagnostic approach

Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20–40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach.

Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss

PurposeCongenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota. MethodsOver a 4-year period, 57 patients with an age range of 3months to 10years with unexplained SNHL were recruited to participate in this study. Informed consent was obtained to test the archived dried blood spots (DBS) of these patients for cCMV infection by real-time PCR, targeting a highly conserved region of the CMV UL83 gene. Results were normalized to recovery of an NRAS gene control. Chart review was conducted to identify subjects who underwent genetic testing and/or neurodiagnostic imaging to investigate possible genetic, syndromic, or anatomical causes of SNHL. ResultsIn total, 15 of the 57 children with unexplained SNHL tested positive for CMV DNA in their DBS (26%). A mean viral load of 8.3×104 (±4.1×104) [range, 1×103–6×105] copies/μg DNA was observed in subjects retrospectively diagnosed with cCMV. No statistically significant correlation was found between viral load and SNHL severity. ConclusionsA retrospective DBS analysis demonstrated that 26% of patients presenting with unexplained SNHL in childhood had cCMV. DBS testing is useful in the retrospective diagnosis of cCMV, and may provide definitive diagnostic information about the etiology of SNHL.

Diffusion Kurtosis Imaging of Microstructural Alterations in the Brains of Paediatric Patients with Congenital Sensorineural Hearing Loss

Our aim was to assess microstructural alterations in the cerebrums of paediatric patients with congenital sensorineural hearing loss (SNHL) using diffusion kurtosis imaging (DKI). Seventy-two paediatric SNHL patients and 38 age-matched healthy volunteers were examined via DKI using a 3.0 T magnetic resonance (MR) imager. Fractional anisotropy (FA) and mean kurtosis (MK) values were computed for 12 cerebral regions in both the controls and the SNHL patients. Compared with patients below age 3, patients in the older age group were found to have more significant differences in MK than in FA, and these appeared in more major areas of the brain. In contrast, in 1- to 3-year-old children, a few major brain areas exhibited differences in FA, but none exhibited appreciable differences in MK. There were significant decreases in the FA or MK values (P < 0.05, all) in more areas of the brain in patients with lesions than in patients with normal-appearing brains. DKI offers comprehensive measurements for quantitative evaluation of age-related microstructural changes in both white and grey matter in SNHL patients. DKI scans of children with SNHL exhibiting significant decreases in MK might play an important role in evaluating the severity of developmental delay.

Malformaciones del oído interno: una aproximación diagnóstica práctica

Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20-40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach.

Does an Otolaryngology‐Specific Database Have Added Value? A Comparative Feasibility Analysis

There are multiple nationally representative databases that support epidemiologic and outcomes research, and it is unknown whether an otolaryngology-specific resource would prove indispensable or superfluous. Therefore, our objective was to determine the feasibility of analyses in the National Ambulatory Medical Care Survey (NAMCS) and National Hospital Ambulatory Medical Care Survey (NHAMCS) databases as compared with the otolaryngology-specific Creating Healthcare Excellence through Education and Research (CHEER) database. Parallel analyses in 2 data sets. Ambulatory visits in the United States. To test a fixed hypothesis that could be directly compared between data sets, we focused on a condition with expected prevalence high enough to substantiate availability in both. This query also encompassed a broad span of diagnoses to sample the breadth of available information. Specifically, we compared an assessment of suspected risk factors for sensorineural hearing loss in subjects 0 to 21 years of age, according to a predetermined protocol. We also assessed the feasibility of 6 additional diagnostic queries among all age groups. In the NAMCS/NHAMCS data set, the number of measured observations was not sufficient to support reliable numeric conclusions (percentage standard error among risk factors: 38.6-92.1). Analysis of the CHEER database demonstrated that age, sex, meningitis, and cytomegalovirus were statistically significant factors associated with pediatric sensorineural hearing loss (P < .01). Among the 6 additional diagnostic queries assessed, NAMCS/NHAMCS usage was also infeasible; the CHEER database contained 1585 to 212,521 more observations per annum. An otolaryngology-specific database has added utility when compared with already available national ambulatory databases.

The internal acoustic canal - another review area in paediatric sensorineural hearing loss

Morphological abnormalities of the internal acoustic canal (IAC), albeit rare, are sometimes associated with hearing loss in children. We present an illustration of the spectrum of IAC abnormalities together with a brief review of the embryology and anatomy of the IAC and the techniques used when imaging the petrous temporal bone. This review focuses on morphological abnormalities of the IAC together with their clinical implications and impact on clinical management.

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.

This study was designed to delineate genetic contributions, if any, to sporadic forms of mild to moderate sensorineural hearing loss (SNHL) not related to GJB2 mutations (DFNB1) in a pediatric population. We recruited 11 non-DFNB1 simplex cases of mild to moderate SNHL in children. We applied whole-exome sequencing to all 11 probands. We used a filtering strategy assuming that de novo variants of known autosomal dominant (AD) deafness genes, biallelic mutations in autosomal recessive (AR) genes, monoallelic mutations in X chromosome genes for males, and digenic inheritance could be associated. Candidate variants first were prioritized with allele frequency in public databases and confirmed by a phase or a segregation test in each family. Additional information from the literature or public databases was used to identify strong candidate variants. Strong candidate variants were detected in 5 of 11 probands (45.4%). A diverse mode of inheritance implicated the sporadic occurrence of the phenotype. AR mutations in OTOGL and SERPINB6 and digenic inheritance involving two deafness genes, GPR98 and PDZ7, were detected. A de novo AD mutation also was detected in TECTA and MYH14. No syndromic feature was detected in individuals with GPR98/PDZ7 or MYH14 variants in our cohort at this moment. Mild to moderate pediatric SNHL, even if sporadic, features a strong genetic etiology and can manifest via diverse modes of inheritance. In addition, a multidisciplinary approach should be used for a correct diagnosis.

Imaging Evaluation of Pediatric Sensorineural Hearing Loss in Potential Candidates for Cochlear Implantation.

Computerized tomography (CT) and magnetic resonance (MR) are complementary in the imaging of the labyrinth, the internal auditory canal and the brain in children with sensorineural hearing loss who are being evaluated for cochlear implantation. An accurate anatomical description of the inner ear is essential in the preoperative work up. Computerized tomography visualizes the bony structures, whereas MR can discern soft-tissue components including intra labyrinthine fluid, cerebrospinal fluid (CSF), nerves, and vessels within the IAC. This prospective study was conducted in the Department of Otorhinolaryngology, Head & Neck Surgery, Government Medical College, Srinagar. 40 children in the age group of 1-16years with unidentified causes of bilateral SNHL were analysed radiologically over the period of 2years from Dec 2011 to Jan 2014. Each patient underwent MRI and high resolution CT scanning of temporal bone in axial and coronal planes. Out of the 40 patients 22 were males (55%) and 18 were females (45%). 30 patients (72.5%)in our study had normal radiological scans. Five patients (12.5%) had B/L large vestibular aqueduct and two patients (5%) had internal auditory canal stenosis with cochlear nerve hypoplasia on CT and MR imaging. Cochlear dysplasia was present in two patients (5%) and semicircular canal dysplasia was present in one patient (2.5%) as an isolated finding on HRCT. In addition isolated cochlear nerve hypoplasia was present in one patient (2.5%). Hyperintense basal ganglia lesion suggestive of kernicterus was present in one patient (2.5%) and hyperintense posterior parietal and occipital white matter lesions suggestive of congenital CMV infection was present in one patient (2.5%) on MR imaging. Arachnoid cysts of middle cranial fossa was an incidental finding present in one patient. Radiological abnormalities of the inner ear are not uncommon. Computerized tomography and MRI are important modalities to analyze the inner ear in children with unexplained SNHL. MRI with an extremely small field of view should be used to study possible abnormalities of the vestibulocochlear nerves.

A diagnostic paradigm including cytomegalovirus testing for idiopathic pediatric sensorineural hearing loss.

To determine the feasibility and cost effectiveness of incorporating cytomegalovirus (CMV) testing to determine the etiology of pediatric hearing loss. Retrospective study of children presenting with sensorineural hearing loss (SNHL) at one institution from 2008 to 2013. Children aged 3 years or younger who presented to the senior author (A.P.) between May 2008 and September 2013 with confirmed SNHL were evaluated. These children underwent a sequential diagnostic paradigm that incorporated CMV testing if no obvious etiology could be determined from the history or physical examination. One hundred eleven children with SNHL were evaluated between 2008 and 2013. Eighty-three children underwent CMV testing, imaging, and a genetic evaluation. Those with confirmed or probable CMV-induced SNHL made up 30% of all children tested (n = 25), the largest group identified. CMV screening had the lowest cost compared to genetic testing or imaging for all types of hearing loss, except for those with auditory neuropathy spectrum disorder. We present the first sequential diagnostic paradigm utilizing CMV testing for children presenting with SNHL. The relatively high incidence of CMV-induced SNHL, the low cost for this assay, and the indirect benefits from early diagnosis support the role of early CMV testing for these patients. 4.

Pediatric Sensorineural Hearing Loss

Pediatric Sensorineural Hearing Loss

Hearing Loss and Enlarged Internal Auditory Canal in Children

IntroductionAmong the temporal bone abnormalities that can be found in the etiological study of paediatric sensorineural hearing loss (SNHL) by imaging techniques, those related to the internal auditory canal (IAC) are the least frequent. The most prevalent of these abnormalities that is associated with SNHL is stenotic IAC due to its association with cochlear nerve deficiencies. Less frequent and less concomitant with SNHL is the finding of an enlarged IAC (>8mm). MethodsRetrospective and descriptive review of clinical associations, imaging, audiological patterns and treatment of 9 children with hearing loss and enlarged IAC in the period 1999–2012. ResultsTwo groups of patients are described. The first, without association with vestibulocochlear dysplasias, consisted of: 2 patients with SNHL without other temporal bone or systemic abnormalities, one with bilateral mixed HL from chromosome 18q deletion, one with a genetic X-linked DFN3 hearing loss, one with unilateral hearing loss in neurofibromatosis type 2 with bilateral acoustic neuroma, and one with unilateral hearing loss with cochlear nerve deficiency. The second group, with association with vestibulocochlear dysplasias, was comprised of: one patient with moderate bilateral mixed hearing loss in branchio-oto-renal syndrome, one with profound unilateral SNHL with recurrent meningitis, and another with profound bilateral SNHL with congenital hypothyroidism. ConclusionsThe presence of an enlarged IAC in children can be found in different clinical and audiological settings with relevancies that can range from life-threatening situations, such as recurrent meningitis, to isolated hearing loss with no other associations.

Hipoacusia en niños con conducto auditivo interno agrandado

IntroductionAmong the temporal bone abnormalities that can be found in the etiological study of paediatric sensorineural hearing loss (SNHL) by imaging techniques, those related to the internal auditory canal (IAC) are the least frequent. The most prevalent of these abnormalities that is associated with SNHL is stenotic IAC due to its association with cochlear nerve deficiencies. Less frequent and less concomitant with SNHL is the finding of an enlarged IAC (>8mm). MethodsRetrospective and descriptive review of clinical associations, imaging, audiological patterns and treatment of 9 children with hearing loss and enlarged IAC in the period 1999 to 2012. ResultsTwo groups of patients are described. The first, without association with vestibulocochlear dysplasias, consisted of: 2 patients with SNHL without other temporal bone or systemic abnormalities, one with bilateral mixed HL from chromosome 18q deletion, one with a genetic X-linked DFN3 hearing loss, one with unilateral hearing loss in neurofibromatosis type 2 with bilateral acoustic neuroma, and one with unilateral hearing loss with cochlear nerve deficiency. The second group, with association with vestibulocochlear dysplasias, was comprised of: one patient with moderate bilateral mixed hearing loss in branchio-oto-renal syndrome, one with profound unilateral SNHL with recurrent meningitis, and another with profound bilateral SNHL with congenital hypothyroidism. ConclusionsThe presence of an enlarged IAC in children can be found in different clinical and audiological settings with relevancies that can range from life-threatening situations, such as recurrent meningitis, to isolated hearing loss with no other associations.

Computed tomography demonstrates abnormalities of contralateral ear in subjects with unilateral sensorineural hearing loss

PurposePrior studies have associated gross inner ear abnormalities with pediatric sensorineural hearing loss (SNHL) using computed tomography (CT). No studies to date have specifically investigated morphologic inner ear abnormalities involving the contralateral unaffected ear in patients with unilateral SNHL. The purpose of this study is to evaluate contralateral inner ear structures of subjects with unilateral SNHL but no grossly abnormal findings on CT. Materials and methodsIRB-approved retrospective analysis of pediatric temporal bone CT scans. 97 temporal bone CT scans, previously interpreted as “normal” based upon previously accepted guidelines by board certified neuroradiologists, were assessed using 12 measurements of the semicircular canals, cochlea and vestibule. The control-group consisted of 72 “normal” temporal bone CTs with underlying SNHL in the subject excluded. The study-group consisted of 25 normal-hearing contralateral temporal bones in subjects with unilateral SNHL. Multivariate analysis of covariance (MANCOVA) was then conducted to evaluate for differences between the study and control group. ResultsCochlea basal turn lumen width was significantly greater in magnitude and central lucency of the lateral semicircular canal bony island was significantly lower in density for audiometrically normal ears of subjects with unilateral SNHL compared to controls. ConclusionAbnormalities of the inner ear were present in the contralateral audiometrically normal ears of subjects with unilateral SNHL. These data suggest that patients with unilateral SNHL may have a more pervasive disease process that results in abnormalities of both ears. The findings of a cochlea basal turn lumen width disparity >5% from “normal” and/or a lateral semicircular canal bony island central lucency disparity of >5% from “normal” may indicate inherent risk to the contralateral unaffected ear in pediatric patients with unilateral sensorineural hearing loss.

Characteristics and application of inner ear CT in 20 cases of sensorineural hearing loss in children

Conclusion: This study shows that a number of children with sensorineural hearing loss (SNHL) have inner ear malformations demonstrated by multi-slice spiral computed tomography (MSCT). MSCT allows a comprehensive assessment of various congenital inner ear malformations through high quality multiplanar reformation (MPR) and can display the site and degree of the malformation three-dimensionally and intuitively. This is very useful for cochlear implantation. Objective: To evaluate the feasibility and usability of MSCT in pediatric SNHL with inner ear malformations. Methods: Sixty-five patients were diagnosed with SNHL by brainstem auditory evoked response (BAER). Inner ear MSCT scan and coronal MPR reconstruction were performed in all cases. Results: This study demonstrated 20 cases (33 ears) with inner ear malformations, which included 10 ears with cochlear malformations, 7 with vestibular malformations, 5 with semicircular canal malformations, 8 with internal auditory canal (IAC) malformations, and 15 with vestibular malformations. Cochlear malformations included one ear with Michel deformity, two ears with common cavity deformity, one with cochlear aplasia, one with hypoplastic cochlea, two with incomplete partition type I, and three with incomplete partition type II (Mondini deformity).

Frequent Association of Cochlear Nerve Canal Stenosis With Pediatric Sensorineural Hearing Loss

To examine the association between cochlear nerve canal (CNC) dimensions and sensorineural hearing loss (SNHL). Retrospective review. Tertiary pediatric hospital. Children with SNHL and CNC stenosis. The CNCs measured in axial and 45° oblique planes on temporal bone computed tomography (TBCT) in children with SNHL were compared with TBCT from children with normal hearing and 100 normal temporal bone specimens. Additional inner ear abnormalities were recorded. Hearing was measured using 4 frequency pure-tone averages (PTAs). The degree of CNC stenosis related to the degree of SNHL. Fifty-three patients (32 female) with SNHL had CNC stenosis in 85 ears (32 bilateral, 21 unilateral). The mean (SD) axial CNC measurement for 85 ears was 0.98 (0.57) mm (range, 0-1.75 mm). The mean (SD) Poschl CNC measurement was 1.30 (0.69) mm (range, 0-2.80 mm). Of 85 ears, 64 had at least 1 additional inner ear abnormality. The mean (SD) PTA was 56.2 (40.8) dB. For each ear separately axial and Poschl plane CNC measurements were highly correlated (P<.001). The degree of CNC stenosis was significantly (P=.02) related to degree of hearing loss, and PTA decreased in the CNC stenosis population by 1.4 dB per year (P=.054). In addition, PTA and additional inner ear abnormalities were found to be significantly correlated (P=.002). Cochlear nerve canal stenosis is associated with SNHL, and the degree of stenosis predicted the degree of SNHL. In addition, the presence of CNC stenosis with additional inner ear abnormalities may affect the severity of SNHL.

The Relationship between Jugular Bulb–Vestibular Aqueduct Dehiscence and Hearing Loss in Pediatric Patients

To determine the prevalence of jugular bulb and vestibular aqueduct dehiscence (JBVAD) in pediatric patients undergoing temporal bone computed tomography (CT) scans and to assess the relationship between JBVAD and hearing loss. Cross-sectional study with chart review. Tertiary academic medical center. All patients 18 years of age or younger who had undergone temporal bone CT scans and audiometric testing between 2004 and 2009 were retrospectively reviewed. JBVAD was determined by blinded review of CT images. Hearing loss was determined by review of audiometric data and was correlated with imaging findings. CT images and audiometric data were available for review in 927 patients (1854 ears). Overall prevalence of JBVAD was 8.6%, with a prevalence of 6.6% in right ears and 3.6% in left ears. JBVAD was present in 8.3% and 7.1% of patients with and without sensorineural or mixed hearing loss, respectively (95% confidence interval [CI], -2.3% to 4.6%; P = .51). Similarly, JBVAD was present in 5.5% of ears with and 4.6% of ears without sensorineural or mixed hearing loss (95% CI, -1.1% to 2.9%; P = .37). The prevalence of JBVAD is 8.6% in pediatric patients undergoing temporal bone CT scans, 65% of which occur in the right ear. We were unable to identify any relationship between JBVAD and hearing loss. A major contribution to pediatric sensorineural hearing loss from JBVAD is therefore extremely unlikely.