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      Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review

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      Author(s): 1 , 1 , 2 , * ,
      Publication date (Electronic):
      Journal: Balkan Medical Journal
      Publisher: Galenos Publishing

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          Abstract

          The Caribbean region has a diverse population of about 40 million people, spread over 13 sovereign states. This review aims to describe the existing studies on hereditary hearing loss (HL) in the Caribbean population. We systematically reviewed scientific articles on HL prevalence, genetic causes, technology use, and environmental effects in Caribbean nations and the Caribbean diaspora in the United States. Key findings show that HL rates, with diverse genetic variables, vary across Puerto Rico, Cuba, and the Dominican Republic. Local resources and technology have been used to diagnose HL, particularly in rural areas. Environmental factors tend to affect HL prevalence in various regions. This literature review of Caribbean-focused studies helps guide future research and healthcare strategies, particularly concerning genetic drift caused by migration to the United States. Understanding these factors can help diagnose and treat HL in America’s diverse population.

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          Hearing loss prevalence and years lived with disability, 1990–2019: findings from the Global Burden of Disease Study 2019

          Fakher Rahim, Maheswar Satpathy (2021)
          Summary Background Hearing loss affects access to spoken language, which can affect cognition and development, and can negatively affect social wellbeing. We present updated estimates from the Global Burden of Disease (GBD) study on the prevalence of hearing loss in 2019, as well as the condition's associated disability. Methods We did systematic reviews of population-representative surveys on hearing loss prevalence from 1990 to 2019. We fitted nested meta-regression models for severity-specific prevalence, accounting for hearing aid coverage, cause, and the presence of tinnitus. We also forecasted the prevalence of hearing loss until 2050. Findings An estimated 1·57 billion (95% uncertainty interval 1·51–1·64) people globally had hearing loss in 2019, accounting for one in five people (20·3% [19·5–21·1]). Of these, 403·3 million (357·3–449·5) people had hearing loss that was moderate or higher in severity after adjusting for hearing aid use, and 430·4 million (381·7–479·6) without adjustment. The largest number of people with moderate-to-complete hearing loss resided in the Western Pacific region (127·1 million people [112·3–142·6]). Of all people with a hearing impairment, 62·1% (60·2–63·9) were older than 50 years. The Healthcare Access and Quality (HAQ) Index explained 65·8% of the variation in national age-standardised rates of years lived with disability, because countries with a low HAQ Index had higher rates of years lived with disability. By 2050, a projected 2·45 billion (2·35–2·56) people will have hearing loss, a 56·1% (47·3–65·2) increase from 2019, despite stable age-standardised prevalence. Interpretation As populations age, the number of people with hearing loss will increase. Interventions such as childhood screening, hearing aids, effective management of otitis media and meningitis, and cochlear implants have the potential to ameliorate this burden. Because the burden of moderate-to-complete hearing loss is concentrated in countries with low health-care quality and access, stronger health-care provision mechanisms are needed to reduce the burden of unaddressed hearing loss in these settings. Funding Bill & Melinda Gates Foundation and WHO.
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            Newborn hearing screening--a silent revolution.

            Mary C. Morton, Walter E Nance (2006)
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              Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

              Christina Sloan-Heggen, Amanda Bierer, A. Eliot Shearer … (2016)
              Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic hearing loss, we performed comprehensive clinical genetic testing with targeted genomic enrichment and massively parallel sequencing on 1119 sequentially accrued patients. No patient was excluded based on phenotype, inheritance or previous testing. Testing resulted in identification of the underlying genetic cause for hearing loss in 440 patients (39 %). Pathogenic variants were found in 49 genes and included missense variants (49 %), large copy number changes (18 %), small insertions and deletions (18 %), nonsense variants (8 %), splice-site alterations (6 %), and promoter variants (<1 %). The diagnostic rate varied considerably based on phenotype and was highest for patients with a positive family history of hearing loss or when the loss was congenital and symmetric. The spectrum of implicated genes showed wide ethnic variability. These findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss. Electronic supplementary material The online version of this article (doi:10.1007/s00439-016-1648-8) contains supplementary material, which is available to authorized users.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Balkan Med J
                Journal ID (iso-abbrev): Balkan Med J
                Journal ID (publisher-id): BMJ
                Title: Balkan Medical Journal
                Publisher: Galenos Publishing
                ISSN (Print): 2146-3123
                ISSN (Electronic): 2146-3131
                Publication date Collection: May 2024
                Publication date (Electronic): 2 May 2024
                Volume: 41
                Issue: 3
                Pages: 161-166
                Affiliations
                [1 ]Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA
                [2 ]John P. Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA
                Author notes
                * Address for Correspondence: John P. Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA E-mail: mtekin@ 123456med.miami.edu
                Author information
                https://orcid.org/0000-0003-1068-1906
                https://orcid.org/0000-0002-3525-7960
                Article
                Publisher ID: 65106
                DOI: 10.4274/balkanmedj.galenos.2024.2024-2-110
                PMC ID: 11077928
                PubMed ID: 38700265
                SO-VID: 7854436b-6e4c-4b31-a1e0-2d8579bfab40
                Copyright © ©Copyright 2024 by Trakya University Faculty of Medicine
                License:

                The Balkan Medical Journal published by Galenos Publishing House.

                History
                Date received : 6 March 2024
                Date accepted : 15 April 2024
                Categories
                Subject: Invited Review

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