Acacia Bowden, Alexandra Hubbel, Lindsay Smith, Hongyue Wang, Chin-To Fong
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引用次数: 0
Abstract
Purpose: Uncorrected hearing loss can result in detrimental sequelae. Research addressing clinical presentation and genetic testing would inform clinical decision making.
Method: A retrospective chart review of 96 patients aged 1 month to 46 years (median age = 6 years) diagnosed with hearing loss or deafness and who underwent genetic testing at University of Rochester Medical Center from 2011 to 2021. Chi-square and Fisher's exact tests examined the relationship between a diagnostic positive genetic test result and various characteristics of hearing loss, including congenital (n = 52), noncongenital (n = 34), prelingual (n = 53), postlingual (n = 33), progressive (n = 13), not progressive (n = 47), bilateral (n = 67), unilateral (n = 26), sensorineural (n = 68), conductive (n = 14), mixed (n = 5), syndromic (n = 10), and nonsyndromic (n = 87) hearing loss. We also examined the number of patients with presence of developmental disabilities (n = 35), having a first-degree relative with hearing loss (n = 19), having hearing aids or cochlear implants (n = 45), and having a multisystem presentation prior to diagnosis (n = 45).
Results: Patients with sensorineural hearing loss (44.1%) had significantly more diagnostic positive results than those with mixed (0%) or conductive hearing loss (21.4%), p = .004. However, significantly fewer patients with disabilities (19.4%) had diagnostic positive tests than those without disabilities (43.3%), p < .05. More patients with a multisystem presentation were also found to have syndromic causes of hearing loss (23.3%) than patients who did not have a multisystem presentation, p < .05.
Conclusions: Our study suggests a significant association between sensorineural type of hearing loss and a diagnostic positive genetic test result, while the presence of disabilities was significantly associated with a nondiagnostic genetic test result. Knowledge of these findings is critical for understanding the cause of the hearing loss, identifying other associated symptoms, and determining risk to family members.
期刊介绍：
Mission: AJA publishes peer-reviewed research and other scholarly articles pertaining to clinical audiology methods and issues, and serves as an outlet for discussion of related professional and educational issues and ideas. The journal is an international outlet for research on clinical research pertaining to screening, diagnosis, management and outcomes of hearing and balance disorders as well as the etiologies and characteristics of these disorders. The clinical orientation of the journal allows for the publication of reports on audiology as implemented nationally and internationally, including novel clinical procedures, approaches, and cases. AJA seeks to advance evidence-based practice by disseminating the results of new studies as well as providing a forum for critical reviews and meta-analyses of previously published work.
Scope: The broad field of clinical audiology, including audiologic/aural rehabilitation; balance and balance disorders; cultural and linguistic diversity; detection, diagnosis, prevention, habilitation, rehabilitation, and monitoring of hearing loss; hearing aids, cochlear implants, and hearing-assistive technology; hearing disorders; lifespan perspectives on auditory function; speech perception; and tinnitus.
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