Etiology, Comorbidities, and Health Service Use in a Clinical Cohort of Children With Hearing Loss
Nadia Olivier1,2, Daisy A Shepherd1,3, Libby Smith2
1Department of Paediatrics, University of Melbourne, Parkville, Victoria.
Insights
Most children with permanent hearing loss have underlying causes, comorbidities, and utilize multiple health services. Diagnostic testing is crucial for understanding etiology and guiding care for pediatric hearing loss.
Area of Science:
- Pediatrics
- Genetics
- Audiology
Background:
- Permanent hearing loss in children presents complex etiological challenges.
- Understanding the cause, associated conditions, and healthcare utilization is vital for effective management and family planning.
Purpose of the Study:
- To investigate the etiology, comorbidities, and health service utilization in a cohort of children with permanent hearing loss.
- To determine the diagnostic yield of etiological testing and its correlation with clinical factors.
Main Methods:
- A retrospective audit of 518 children with hearing loss attending a tertiary pediatric clinic from 2016-2019.
- Descriptive statistics and linear regression were used to analyze the relationship between hearing loss severity, comorbidities, and service use.
Main Results:
- Etiological testing was pursued in 92.9% of children, with a confirmed or suspected diagnosis in 72.1%.
- Common etiologies included connexin mutations (31.5% of bilateral loss) and hypoplastic cochlear nerve (34.7% of unilateral loss).
- The majority (67.2%) had medical comorbidities, and high service utilization was observed across otolaryngology, early intervention, and genetics.
Conclusions:
- Children with hearing loss exhibit diverse etiologies and frequently present with comorbidities, necessitating comprehensive healthcare engagement.
- Diagnostic testing, including genetic analysis, is effective in identifying causes, and comorbidity burden influences service utilization.
Objective:
To examine etiology, comorbidities, and health service use in a cohort of children with permanent hearing loss. Receiving an etiological diagnosis can inform reproductive planning, rehabilitation outcomes, predict additional disabilities, and direct intervention or management decisions.
Design:
Retrospective audit of 518 deaf/hard-of-hearing children attending a tertiary pediatric outpatient clinic (2016-2019) using descriptive statistics. We used linear regression to investigate the relationship between degree of hearing loss, comorbidities, and health service use.
Results:
Of the 518 children who attended the clinic, 481 (92.9%) proceeded with testing for etiology. Most children (399/518, 77.0%) were diagnosed with hearing loss by 3 mo of age. Of the children tested, the cause of hearing loss was confirmed in 234/481 (48.6%), suspected in 113/481 (23.5%), and unknown in 134/481 (27.9%); 17/341 (5.0%) had congenital cytomegalovirus (CMV), 17/320 (5.3%) had enlarged vestibular aqueducts, 67/213 (31.5%) of children with bilateral hearing loss had connexin mutation, and 25/72 (34.7%) of children with unilateral loss had hypoplastic/absent cochlear nerve on imaging. The odds of having a definitive/suspected diagnosis were twice as likely for indivduals with profound hearing loss than mild hearing loss (OR 2.1; 95% CI, 1.2-3.9; P = 0.02). The majority (348/518, 67.2%) of children had medical comorbidities, and most children attended otolaryngology (453/518, 87.5%), early intervention (358/518, 69.1%), and genetic (287/518, 55.4%) services.
Conclusions:
Children with hearing loss have diverse etiologies, most have comorbidities, and attend multiple services. Most families elected to proceed with diagnostic testing for etiology. Current guidelines and expanded access to genetic testing identified a confirmed/suspected etiological diagnosis in 72.1% of children tested. The number of comorbidities correlated with service use, regardless of hearing loss severity.
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