Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Understanding racial and ethnic disparities in diagnostic rates of genetic testing is critical for health equity. We sought to understand the extent and cause of racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing (CGT) for sensorineural hearing loss (SNHL). We performed a retrospective cohort study at two tertiary children's hospitals on a diverse cohort of 240 consecutive pediatric patients (76% publicly insured, 82% non-White) with SNHL of unknown etiology who underwent CGT. Definite and possible genetic diagnoses were assigned for each patient, representing the likelihood of a genetic cause of hearing loss. Associations between diagnostic rates were examined. 3.8 ± 2.1 variants were detected per patient; this frequency did not vary between White/Asian and Hispanic/Black cohorts. Overall, 82% of variants were variants of uncertain significance (VUS). Compared with White and Asian subjects, variants identified among Hispanic and Black children were less likely to be classified as pathogenic/likely pathogenic (15% vs. 24%, p < 0.001), and Hispanic and Black children were less likely to have a definite genetic diagnosis (10% vs. 37%, p < 0.001). The adjusted odds ratio for definite genetic diagnosis in Black and Hispanic children compared with White and Asian children was 0.19. Expanding genetic diagnostic criteria to include predicted deleterious VUSs reduced these disparities between White/Asian and Hispanic/Black children, with comparable molecular diagnostic rates (41% vs. 38%, p = 0.72). However, in silico predictions are insufficiently valid for clinical use. Increased inclusion of underrepresented groups in genetic hearing-loss studies to clinically validate these variants is necessary to reduce racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing.

Sociodemographic Disparities in Educational Services in Children who are Deaf or Hard of Hearing.

OBJECTIVE: Examine the association between sociodemographic factors and Individualized Education Program (IEP) establishment. DESIGN: Retrospective cohort study. SETTING: Tertiary referral center. METHODS: Participants included deaf or hard-of-hearing children who were eligible for an IEP with "deafness" or "hard of hearing" as a primary or secondary disability. Primary outcome measures were time intervals between initial referral for services and parental consent; parental consent to determination of eligibility; and initial referral to eligibility (the sum of the previous 2 intervals). Student's t tests and linear regression were used to examine the association between sociodemographic factors and the primary outcome variables. RESULTS: Of the 88 participants, 51 (58%) were male, 45 (51%) were from underrepresented minority (URM) groups, 35 (40%) spoke a primary language other than English, and 53 (60%) utilized public insurance. IEP establishment was significantly delayed in participants who required an English-language interpreter. Most of the delay occurred in the time between the initial referral and parental consent (mean: 115 vs 37 days, P = .02). There were also significant delays from the time of referral for services to eligibility in URM participants (mean: 159 vs 85 days, P = .04). Significant delays were also associated with Minority Status and Language within social vulnerability index percentile rankings. CONCLUSION: This study found that IEP establishment was delayed in both URM participants and those who required an English-language interpreter. These results highlight the importance of clear communication between the school system and caregivers in the IEP establishment process, particularly with families who require an English-language interpreter or identify as URM.

Risk Factors Associated with Delays in Hearing Loss Identification in Pediatric Patients.

OBJECTIVE: To identify sociodemographic factors associated with pediatric late-identified hearing loss (LIHL) and classify novel subgroups within the LIHL population. STUDY DESIGN: Retrospective cohort. SETTING: Tertiary children's hospital. METHODS: Our cohort included children with permanent hearing loss (HL) between 2012 and 2020 (n = 1087). Patients with early-identified HL were compared to patients with LIHL (>6 months of age at diagnosis), and 3 subgroups: (1) late-identified congenital HL: failed NHS but had a diagnostic audiogram >6 months old; (2) late-onset HL: passed NHS and identified with HL after 6 months old; (3) late-identified, unknown-onset: unknown NHS results, identified after 6 months old. Geospatial analysis was performed using ArcGIS Pro. RESULTS: Compared with early-identified children, children with LIHL were more likely to have more comorbidities (odds ratio [OR] = 1.12, [1.01, 1.23]), be an under-represented minority (URM) (OR = 1.92, [1.27, 2.93]) and have a higher social vulnerability index (SVI) (adjusted odds ratio [AOR] = 2.1, [1.14, 3.87]). However, subgroups in the LIHL cohort had variable associations. Children with late-identified unknown onset hearing loss were uniquely associated with a primarily non-English speaking household (AOR = 1.84, [1.04, 3.25]), whereas children with late-onset hearing loss were less likely to have public insurance (AOR = 0.47, [0.27, 0.81]. There were no significant associations for children with late-identified congenital hearing loss. Neighborhood disadvantage, as measured by SVI, had an increased association with late-identified unknown onset HL (AOR = 4.08, [2.01, 8.28]) and a decreased association with late-onset HL (AOR = 0.40, [0.22, 0.72]). CONCLUSION: Sociodemographic factors serve as proxies for health care access, and these factors vary across LIHL pathways. Understanding the risk factors associated with each LIHL subgroup may help address disparities in pediatric HL identification.

Teletherapy to address language disparities in deaf and hard-of-hearing children: study protocol for an inclusive multicentre clinical trial.

INTRODUCTION: Children who are deaf or hard-of-hearing (DHH) are at risk for speech and language delay. Language outcomes are worse in DHH children from lower socioeconomic backgrounds, due in part to disparities in access to specialised speech-language therapy. Teletherapy may help improve access to this specialised care and close this language gap. Inclusion of diverse DHH children in prospective randomised clinical trials has been challenging but is necessary to address disparities and pursue hearing health equity. Stakeholder input regarding decisions on study design elements, including comparator groups, masking, assessments and compensation, is necessary to design inclusive studies. We have designed an inclusive, equitable comparativeness effectiveness trial to address disparities in paediatric hearing health. The specific aims of the study are to determine the effect of access to and utilisation of speech-language teletherapy in addressing language disparities in low-income children who are DHH. METHODS AND ANALYSIS: After stakeholder input and pilot data collection, we designed a randomised clinical trial and concurrent longitudinal cohort trial to be conducted at four tertiary children's hospitals in the USA. Participants will include 210 DHH children aged 0-27 months. 140 of these children will be from lower income households, who will be randomised 1:1 to receive usual care versus usual care plus access to supplemental speech-language teletherapy. 70 children from higher income households will be simultaneously recruited as a comparison cohort. Primary outcome measure will be the Preschool Language Scales Auditory Comprehension subscale standard score, with additional speech, language, hearing and quality of life validated measures as secondary outcomes. ETHICS AND DISSEMINATION: This study was approved by the Institutional Review Boards of the participating sites: the University of California, San Francisco (19-28356), Rady Children's Hospital (804651) and Seattle Children's Hospital (STUDY00003750). Parents of enrolled children will provide written informed consent for their child's participation. Professional and parent stakeholder groups that have been involved throughout the study design will facilitate dissemination and implementation of study findings via publication and through national and regional organisations. TRIAL REGISTRATION NUMBER: NCT04928209.

Geographic, Sociodemographic, and Clinical Factors Associated With Parental Self-Efficacy in Pediatric Patients With Hearing Loss.

OBJECTIVE: To identify geographic, sociodemographic, and clinical factors associated with parental self-efficacy in a diverse cohort of deaf or hard-of-hearing (DHH) children. STUDY DESIGN: Cross-sectional study. SETTING: Tertiary children's hospital. METHODS: Four hundred forty parents of DHH children aged 0 to 17 completed the 25-item Scale of Parental Involvement and Self-Efficacy (SPISE) survey from 2014 to 2022. Residential addresses were geocoded and assigned Area Deprivation Index and Social Vulnerability Index rankings, and univariable and multivariable analyses were conducted using sociodemographic and clinical variables, including sex, race/ethnicity, insurance type, survey language, age at the survey, comorbidities, newborn hearing screening results, and hearing loss laterality and severity. RESULTS: Compared to English and Spanish-speaking parents, Chinese-speaking parents were associated with overall lower parental self-efficacy and involvement (regression coefficient = -0.518, [-0.929, -0.106]), Cohen's d = 0.606) and lower scores on items related to their ability to affect multiple aspects of their child's development and expression of thoughts as well as competency in checking and putting on their child's sensory device. Across univariable and multivariable analyses, besides Chinese language, all other sociodemographic, clinical, and geographic variables were not associated with SPISE score. CONCLUSION: To achieve the best patient outcomes, care teams can use the SPISE to evaluate parental self-efficacy and provide targeted support to parents at risk for having lower knowledge and confidence scores about critical skills necessary to facilitate their child's auditory access and language development. Notably, this study found similar reports of parental efficacy across various sociodemographic, clinical, and geographic variables but significantly lower SPISE scores in Chinese-speaking families.

Factors associated with congenital cytomegalovirus infection detected by dried blood spot testing in children with hearing loss.

OBJECTIVE: Congenital cytomegalovirus (cCMV) infection in infants leads to an increased risk of developing sensorineural hearing loss (SNHL), even if they are asymptomatic at birth. There are currently no national guidelines for universal screening for CMV, placing children with cCMV at a high risk for unidentified and untreated HL, which in turn places them at greater risk for lasting impacts on quality of life and cognitive and behavioral abilities. We sought to describe the sociodemographic and hearing loss characteristics of children with HL due to cCMV. DESIGN: We performed a retrospective cohort study of patients 0-18 years of age who completed CMV dried blood spot (DBS) testing in our HL clinic before April 1, 2022. Home ZIP codes were entered into the Healthy Places Index (HPI) database to quantify the health of the community in which the patient lived. Severity of HL was determined by pure tone averages (PTA) of hearing thresholds for frequencies of 500Hz, 1000Hz, 2000Hz, and 4000Hz. Progression was defined as those who referred on newborn hearing screen and then had a >15 dB increase in PTA, and those who passed newborn hearing screen and were found to have HL later in life. Logistic regression was used to compare variables. RESULTS: Of 365 children who received a CMV DBS test, 15 (4%) had a positive test, indicating the presence of cCMV infection, and 350 (96%) had a negative test. 192 (53%) were male, 212 (58%) were URM, 202 (55%) had public insurance, the median number of ICD-10 codes was 2 (range 0-53), and the median HPI percentile score was 71.2 (range: 3.4-99.9). Although CMV DBS testing was ordered for those with suspicion of SNHL, ultimately diagnostic testing found 333 (91%) with SNHL, 4 (1%) with CHL, 13 (4%) with mixed HL, 9 (3%) with auditory neuropathy spectrum disorder, and 5 (4%) with unspecified HL, and 11 (3%) without HL. Of the 353 patients with HL, 126 (36%) had unilateral, 156 (44%) had symmetric bilateral, and 71 (20%) had asymmetric bilateral HL; 183 (52%) had progressive and 138 (39%) had stable HL. In children with SNHL (n = 333), we tested the association of socio-demographic and audiologic factors with cCMV. Those with asymmetric bilateral SNHL (OR 5.19, 95% CI 1.81-14.90) or profound SNHL (>90 dB) in either ear (OR 13.91, 95% CI 3.82-50.67) had higher odds of having cCMV. Those with symmetric bilateral SNHL had lower odds of a positive CMV DBS test result (OR 0.17, 95% CI 0.02-0.76). All sociodemographic variables, medical comorbidities, and other audiologic variables were not associated with CMV DBS test results. CONCLUSION: Congenital CMV infection is associated with asymmetric bilateral and profound SNHL. More research is warranted to determine best practices for universal screening for cCMV to identify these children.

Tracking Home Language Production and Environment in Children Who Are Deaf or Hard of Hearing.

OBJECTIVE: To use an automated speech-processing technology to identify patterns in sound environments and language output for deaf or hard-of-hearing infants and toddlers. STUDY DESIGN: Observational study based on a convenience sample. SETTING: Home observation conducted by tertiary children's hospital. METHODS: The system analyzed 115 naturalistic recordings of 28 children <3.5 years old. Hearing ability was stratified into groups by access to sound. Outcomes were compared across hearing groups, and multivariable linear regression was used to test associations. RESULTS: There was a significant difference in age-adjusted child vocalizations (P = .042), conversational turns (P = .022), and language development scores (P = .05) between hearing groups but no significant difference in adult words (P = .11). Conversational turns were positively associated with each language development measure, while adult words were not. For each hour of electronic media, there were significant reductions in child vocalizations (ß = -0.47; 95% CI, -0.71 to -0.19), conversational turns (ß = -0.45; 95% CI, -0.65 to -0.22), and language development (ß = -0.37; 95% CI, -0.61 to -0.15). CONCLUSIONS: Conversational turn scores differ among hearing groups and are positively associated with language development outcomes. Electronic media is associated with reduced discernible adult speech, child vocalizations, conversational turns, and language development scores. This effect was larger in children who are deaf or hard of hearing as compared with other reports in typically hearing populations. These findings underscore the need to optimize early language environments and limit electronic noise exposure in children who are deaf or hard of hearing.

Validation of a Hearing-Related Quality-of-Life Questionnaire for Parents and Deaf or Hard-of-Hearing Infants and Toddlers.

OBJECTIVE: To design and validate a hearing-related quality-of-life questionnaire targeted toward parents and deaf or hard-of-hearing infants and toddlers: the Hearing-Related Infant/Toddler and Parent Quality of Life (HIP-QL) questionnaire. STUDY DESIGN: Cross-sectional questionnaire and prospective instrument validation. SETTING: Academic pediatric otolaryngology clinic. METHODS: A 67-question questionnaire developed from constructs of a grounded theory analysis was administered to parents of 31 deaf or hard-of-hearing children and 14 typically hearing children. Questionnaire construct validity, reliability, and discriminant validity were tested. RESULTS: Based on exploratory factor analysis, a 32-item construct composed of developmentally appropriate questions was reduced to a 17-item construct with 4 domains addressing quality of life for both child (auditory/communication behavior, temperament) and parent (management, parent-directed factors). Internal consistency measures were appropriate (Cronbach's alpha = 0.65), and test-retest reliability was high (intraclass correlation coefficient = 0.73). Total HIP-QL scores correlated significantly with related total PedsQL scores (r = 0.57, P < .001). As predicted, parents of children who are deaf or hard of hearing reported significantly lower mean HIP-QL scores but not mean PedsQL scores. HIP-QL was more sensitive than PedsQL for predicting case versus control membership (86.7% vs 76.9%). Multivariable regression confirmed a negative relationship between severity of hearing loss and HIP-QL score after controlling for age, sex, income, and maternal education. CONCLUSIONS: This context-specific questionnaire is the first validated quality-of-life instrument for parents and deaf or hard-of-hearing infants and toddlers. Previously, parental stress and functional disability questionnaires were used as proxies; therefore, this questionnaire has the potential to serve as an important tool for patient- and caregiver-centered outcomes research.

Sociodemographic Disparities and Hearing-Related Quality of Life in Children With Hearing Loss.

This cohort study assesses the association of sociodemographic differences with quality of life in deaf and hard-of-hearing children and adolescents in the US.