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Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness.

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 o...

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Published in:American Journal of Audiology Vol. 33; no. 1; pp. 233 - 242
Main Authors: Bowden, Acacia, Hubbel, Alexandra, Smith, Lindsay, Hongyue Wang, Chin-To Fong
Format: research tables/charts Journal Article
Published: American Speech-Language-Hearing Association Mar2024
Online Access:View this record in EBSCOhost
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      jtl: American Journal of Audiology
      issn: 10590889
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    pubinfo:
      dt: Mar2024
      vid: 33
      iid: 1
      pid: 42
      pub: American Speech-Language-Hearing Association
      place: Rockville, Maryland
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        175835751
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        10.1044/2023_AJA-23-00153
        175835751
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      tig:
        atl: Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness.
      aug:
        au:
          Bowden, Acacia
          Hubbel, Alexandra
          Smith, Lindsay
          Hongyue Wang
          Chin-To Fong
        affil: University of Rochester School of Medicine and Dentistry, NY
      sug:
        subj:
          Hearing Disorders Familial and Genetic
          Deafness Familial and Genetic
          Hereditary Diseases
          Outcome Assessment
          Genetic Screening Methods
          Decision Making, Clinical
          Human
          Male
          Female
          Infant, Newborn
          Infant
          Child, Preschool
          Child
          Adolescence
          Adult
          Retrospective Design
          Record Review
          Chi Square Test
          Fisher's Exact Test
          Developmental Disabilities
          Hearing Aids
          Cochlear Implant
          Hearing Loss, Sensorineural
          Hearing Loss, Conductive
          Descriptive Statistics
          Genome
          Sequence Analysis
          Infant, Newborn: birth-1 month
          Infant: 1-23 months
          Child, Preschool: 2-5 years
          Child: 6-12 years
          Adolescent: 13-18 years
          Adult: 19-44 years
          Male
          Female
      ab: 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.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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