Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1

Objectives: Stickler syndrome (SS) is a heterogeneous inherited connective tissue disorder, often due to a mutation in COL2A1 or COL11A1. Mutations in these genes cause collagen abnormalities affecting ocular, auditory, orofacial, and skeletal systems, including hearing loss, micrognathia, and cleft palate. Understanding the variability of hearing phenotypes based on genetic mutation has a significant impact on treatment and long-term care. Design: A retrospective chart review of pediatric patients with a confirmed diagnosis of SS between January 2003 and December 2018 at a tertiary pediatric hospital was performed. Patients were excluded if they did not have genetic evaluation, craniofacial/ear, nose, and throat evaluation, and/or audiologic testing. Charts were reviewed for the following information: age, race, sex, SS diagnosis, genetic variant of SS, and audiological testing data. Results: There were 29 confirmed patients with SS who met criteria, 16 with type I ( COL2A1) and 13 with type II ( COL11A1). Of the 13 patients with type II, 12 (92%) demonstrated hearing loss, ranging in severity from mild to severe. In type I, 25% of patients had mild or resolved hearing loss. Conclusion: Results suggest that patients with type II SS are more likely to have congenital hearing loss than type I. Data also suggest that the COL11A1 mutation shows consistently more severe hearing loss than the COL2A1 mutation.

Behavioral Audiology Procedures in Children With Down Syndrome

Purpose Normative data regarding behavioral audiologic testing procedures are based upon the general population and often do not apply to children with Down syndrome (DS). Testing children with DS can be challenging, and outcomes may be unreliable due to their different cognitive demands and delays. The aim of this study was to assess optimal audiologic testing procedures for specific age groups of children with DS. Method This study used a retrospective investigation of 273 children with DS (145 boys, 128 girls; average age at evaluation = 5.92 ± 4.74 years) who received an audiologic evaluation during 2013 as part of their medical care at a large pediatric hospital (satellite facilities included). Results Age ranges for the completion of audiometry procedures in children with DS are provided. Average age to reliably complete behavioral testing in children with DS was delayed by up to 30 months compared to typically developing children. The majority of children with DS achieved at least good-to-fair reliability for audiologic results starting at 16 months (85.7%) and two ear results at 6–10 years (76.1%). Though not statistically significant, the use of a two-tester assistant compared to a single tester appeared to be helpful in obtaining reliable results. Conclusion The results provide a guide to optimal audiologic test procedures for children with DS, as the standard audiologic guidelines for typically developing infants and children do not apply.

Understanding Hearing and Hearing Loss in Children With Down Syndrome

Purpose This study evaluated the prevalence of permanent and transient hearing loss, the use of hearing aids as a recommendation, and middle ear dysfunction in children with Down syndrome (DS) through a large multiage and ethnically diverse sample, using current audiologic testing practices. Method Retrospective analysis of data collected on 308 children with DS (168 boys, 140 girls; average age = 5.99 ± 4.88 years) who received an audiological evaluation during 2013 as part of their medical care at a large pediatric hospital. Results Permanent hearing loss was identified in 24.9% of the children, among whom bilateral (75.4%) and conductive (33.3%) hearing losses occurred most often. Of children with DS, 22%–30% experienced a transient hearing loss, with a high incidence of middle ear pathologies from infancy until early adulthood. There were no statistical differences between ethnicity and permanent/transient hearing loss diagnosis. Twenty-three percent were current hearing aid users or had them recommended in a treatment plan. Conclusions The prevalence of hearing loss and abnormal middle ear status is high in the pediatric population with DS. Audiologic evaluations should follow the American Academy of Pediatrics practice guidelines to monitor this high-risk population, and amplification should be considered as an appropriate intervention option if repeated audiologic examinations reveal hearing loss.

Tinnitus Screener: Results From the First 100 Participants in an Epidemiology Study

Purpose In the Noise Outcomes in Servicemembers Epidemiology Study, Veterans recently separated from the military undergo comprehensive assessments to initiate long-term monitoring of their auditory function. We developed the Tinnitus Screener, a four-item algorithmic instrument that determines whether tinnitus is present and, if so, whether it is constant or intermittent, or whether only temporary tinnitus has been experienced. Predictive validity data are presented for the first 100 Noise Outcomes in Servicemembers Epidemiology Study participants. Method The Tinnitus Screener was administered to participants by telephone. In lieu of a gold standard for determining tinnitus presence, the predictive validity of the tinnitus category assigned to participants on the basis of the Screener results was assessed when the participants attended audiologic testing. Results Of the 100 participants, 67 screened positive for intermittent or constant tinnitus. Three were categorized as “temporary” tinnitus only, and 30 were categorized as “no tinnitus.” Tinnitus categorization was predictively valid with 96 of the 100 participants. Conclusions These results provide preliminary evidence that the Screener may be suitable for quickly determining essential parameters of reported tinnitus. We have since revised the instrument to differentiate acute from chronic tinnitus and to identify occasional tinnitus. We are also obtaining measures that will enable assessment of its test-retest reliability.

A Comparison of Two Methods for Measuring Listening Effort As Part of an Audiologic Test Battery

Purpose We evaluated 2 measures of listening effort (a self-report measure and a word recall measure) regarding their suitability for inclusion in a comprehensive audiologic testing protocol. The relationship between the 2 measures was explored, and both measures were examined with regard to validity, sensitivity, and effect on speech intelligibility performance. Method Thirty adults with normal hearing participated. Speech intelligibility performance was evaluated at 4 signal-to-noise ratios by using keywords embedded in both high- and low-context sentences. Listening effort was evaluated at set intervals throughout the speech intelligibility task. Results Results obtained with the 2 measures were consistent with expected changes in listening effort. However, data obtained with the self-report method demonstrated greater sensitivity to these changes. The 2 measures were uncorrelated. Under certain conditions, speech intelligibility performance was more negatively affected when the word recall measure was used. Exploration of additional theoretical and practical considerations supported a conclusion that the self-report measure was preferable for measuring listening effort simultaneously with speech intelligibility. Conclusion The results of this study provide a rationale for preferring the self-report measure of listening effort over the word recall measure when testing audiologic outcomes.

Ototoxicity in Children With High-Risk Neuroblastoma: Prevalence, Risk Factors, and Concordance of Grading Scales—A Report From the Children's Oncology Group

Purpose Platinum-based therapy is the mainstay for management of high-risk neuroblastoma. Prevalence of platinum-related ototoxicity has ranged from 13% to 95% in previous reports; variability is attributable to small samples and disparate grading scales. There is no consensus regarding optimal ototoxicity grading. Furthermore, prevalence and predictors of hearing loss in a large uniformly treated high-risk neuroblastoma population are unknown. We address these gaps in our study. Patients and Methods Audiologic testing was completed after administration of cisplatin alone (< 400 mg/m2; exposure one) or after cisplatin (400 mg/m2) plus carboplatin (1,700 mg/m2; exposure two). Hearing loss was graded using four scales (American Speech-Language-Hearing Association; Brock; Chang; and Common Terminology Criteria for Adverse Events, version 3 [CTCAEv3]). Results Of 489 eligible patients, 333 had evaluable audiologic data. Median age at diagnosis was 3.3 years. Prevalence of severe hearing loss differed by scale. For those in the exposure-one group, prevalence ranged from 8% per Brock to 47% per CTCAEv3 (Brock v CTCAEv3 and Chang, P < .01; CTCAEv3 v Chang, P = .16); for those in the exposure-two group, prevalence ranged from 30% per Brock to 71% per CTCAEv3 (all pair-wise comparisons, P < .01). In patients requiring hearing aids, hearing loss was graded as severe in 49% (Brock), 91% (Chang), and 100% (CTCAEv3). Risk factors for severe hearing loss included exposure to cisplatin and carboplatin compared with cisplatin alone and hospitalization for infection. Conclusion Severe hearing loss is prevalent among children with high-risk neuroblastoma. Exposure to cisplatin combined with myeloablative carboplatin significantly increases risk. The Brock scale underestimates severe hearing loss and should be used with caution in this setting.

Risk Factors for Hearing Loss in Children following Bacterial Meningitis in a Tertiary Referral Hospital

Objective. This study aimed to examine hearing function in children admitted with bacterial meningitis to determine the risk factors for sensorineural hearing loss.Setting. The study was conducted in the audiology unit and paediatric wards of Kenyatta National Hospital.Subjects and Methods. The study involved 83 children between the ages of six months and twelve years admitted with bacterial meningitis. The median age for the children examined was 14. On discharge they underwent hearing testing to evaluate for presence and degree of hearing loss.Results. Thirty six of the 83 children (44.4%) were found to have at least a unilateral mild sensorineural hearing loss during initial audiologic testing. Of the children with hearing loss, 22 (26.5%) had mild or moderate sensorineural hearing loss and 14 (16.9%) had severe or profound sensorineural hearing loss. Significant determinants identified for hearing loss included coma score below eight, seizures, cranial nerve neuropathy, positive CSF culture, and fever above 38.7 degrees Celsius.Conclusions. Sensorineural hearing loss was found to be highly prevalent in children treated for bacterial meningitis. There is need to educate healthcare providers on aggressive management of coma, fever, and seizures due to their poor prognostic value on hearing.