Clinical Challenges in Diagnosing the Genetic Etiology of Hearing Loss

Birkeland, Andrew C.; Lesperance, Marci M.

doi:10.1159/000444564

“…Ultrasound of the thyroid gland showed no signs of pathologic volume changes. To date, the patient is eight years old, and manifest goiter may appear in the second decade of life [ 46 , 47 ]. A clinical follow-up will be performed including perchlorate testing when possible.…”

Section: Discussionmentioning

confidence: 99%

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

Roesch

¹

,

Bernardinelli

²

,

Nofziger³

et al. 2018

IJMS

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Abstract:The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of SLC26A4 and GJB2, coding for connexin 26. The pathogenicity of sequence alterations detected was assessed by determining ion transport and molecular features of the corresponding SLC26A4 protein variants. In this group, four uncharacterized sequence alterations within the SLC26A4 coding region were found. Three of these lead to protein variants with abnormal functional and molecular features, while one should be considered with no pathogenic potential. Pathogenic SLC26A4 sequence alterations were only found in 12% of patients. SLC26A4 sequence alterations commonly found in other Caucasian populations were not detected. This survey represents the first study on the prevalence and spectrum of SLC26A4 sequence alterations in an Austrian cohort and further suggests that genetic testing should always be integrated with functional characterization and determination of the molecular features of protein variants in order to unequivocally identify or exclude a causal link between genotype and phenotype.

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“…Globally, genetic-related causes constitute 24%-39% of congenital hearing impairment in children (Adedayo & Olawale 2014). According to Birkeland and Lesperance (2016), genetic-related causes of hearing loss are likely to remain high as medical advances contribute toward decreasing the acquired causes of hearing problems. Acquired hearing loss can be caused by conditions such as head injuries, measles and mumps, ototoxic medications or infections Butler 2012).…”

Section: Introductionmentioning

confidence: 99%

Community-based audiology services: An effective strategy for the prevention of hearing loss in rural communities

Joubert¹

2022

Preventive Audiology: An African Perspective

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Peer review declarationThe publisher (AOSIS) endorses the South African 'National Scholarly Book Publishers Forum Best Practice for Peer Review of Scholarly Books'. The manuscript underwent an evaluation to compare the level of originality with other published works and was subjected to rigorous two-step peer review before publication, with the identities of the reviewers not revealed to the editor(s) or author(s). The reviewers were independent of the publisher, editor(s), and author(s). The publisher shared feedback on the similarity report and the reviewers' inputs with the manuscript's editor(s) or author(s) to improve the manuscript. Where the reviewers recommended revision and improvements, the editor(s) or author(s) responded adequately to such recommendations. The reviewers commented positively on the scholarly merits of the manuscript and recommended that the manuscript be published. v Research justificationPreventive health care, where preventive audiology is positioned, contains strategies adopted and implemented for disease and disorder prevention. Hearing function can be negatively impacted by numerous factors, including lifestyle choices, environmental factors, genetic predisposition, the burden of disease and other causes. Frequently, hearing impairment can be prevented and its consequences significantly minimised by preventive measures. Such prevention commands conscientiously deliberate anticipatory actions that can fall under primordial, primary, secondary or tertiary levels of prevention. South Africa, as a resource-constrained low-and middle-income country (LMIC), still has a challenge of high numbers of individuals with preventable hearing impairment from the cradle to the grave. Numerous strategies exist for the prevention of hearing impairment across all ages and in various contexts. Preventive Audiology: An African Perspective is an original scholarly book that introduces the concept of preventive audiology, with a specific focus on the African context, which is in line with the South African re-engineered primary health care strategy and the World Health Organization's approach. The book reflects on contextually relevant and responsive evidence-based perspectives, grounded in an African context on preventive audiology, in four major ear-and-hearing burdens of disease within the South African context, namely, (1) early hearing detection and intervention (EHDI), (2) middle ear pathologies, (3) ototoxicity and (4) noise-induced hearing loss (NIHL). The book represents innovative research, seen from both South African and global perspectives. It offers new discourse and argues for a paradigm shift in how audiology is theorised and performed, particularly in LMIC contexts. The goal of this book is to motivate for a paradigm shift in how ear-and-hearing health care is approached within this LMIC context, while also arguing for Afrocentric best practice evidence that leads to next practice. For Afrocentric epistemology, which is a different narrative that is deliberately removed from Western epi...

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“…Globally, genetic-related causes constitute 24%-39% of congenital hearing impairment in children (Adedayo & Olawale 2014). According to Birkeland and Lesperance (2016), genetic-related causes of hearing loss are likely to remain high as medical advances contribute toward decreasing the acquired causes of hearing problems. Acquired hearing loss can be caused by conditions such as head injuries, measles and mumps, ototoxic medications or infections Butler 2012).…”

Section: Introductionmentioning

confidence: 99%

Tele-audiology and preventive audiology: A capacity versus demand challenge imperative in South Africa

Khoza-Shangase¹,

Sebothoma²

2022

Preventive Audiology: An African Perspective

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Peer review declarationThe publisher (AOSIS) endorses the South African 'National Scholarly Book Publishers Forum Best Practice for Peer Review of Scholarly Books'. The manuscript underwent an evaluation to compare the level of originality with other published works and was subjected to rigorous two-step peer review before publication, with the identities of the reviewers not revealed to the editor(s) or author(s). The reviewers were independent of the publisher, editor(s), and author(s). The publisher shared feedback on the similarity report and the reviewers' inputs with the manuscript's editor(s) or author(s) to improve the manuscript. Where the reviewers recommended revision and improvements, the editor(s) or author(s) responded adequately to such recommendations. The reviewers commented positively on the scholarly merits of the manuscript and recommended that the manuscript be published. v Research justificationPreventive health care, where preventive audiology is positioned, contains strategies adopted and implemented for disease and disorder prevention. Hearing function can be negatively impacted by numerous factors, including lifestyle choices, environmental factors, genetic predisposition, the burden of disease and other causes. Frequently, hearing impairment can be prevented and its consequences significantly minimised by preventive measures. Such prevention commands conscientiously deliberate anticipatory actions that can fall under primordial, primary, secondary or tertiary levels of prevention. South Africa, as a resource-constrained low-and middle-income country (LMIC), still has a challenge of high numbers of individuals with preventable hearing impairment from the cradle to the grave. Numerous strategies exist for the prevention of hearing impairment across all ages and in various contexts. Preventive Audiology: An African Perspective is an original scholarly book that introduces the concept of preventive audiology, with a specific focus on the African context, which is in line with the South African re-engineered primary health care strategy and the World Health Organization's approach. The book reflects on contextually relevant and responsive evidence-based perspectives, grounded in an African context on preventive audiology, in four major ear-and-hearing burdens of disease within the South African context, namely, (1) early hearing detection and intervention (EHDI), (2) middle ear pathologies, (3) ototoxicity and (4) noise-induced hearing loss (NIHL). The book represents innovative research, seen from both South African and global perspectives. It offers new discourse and argues for a paradigm shift in how audiology is theorised and performed, particularly in LMIC contexts. The goal of this book is to motivate for a paradigm shift in how ear-and-hearing health care is approached within this LMIC context, while also arguing for Afrocentric best practice evidence that leads to next practice. For Afrocentric epistemology, which is a different narrative that is deliberately removed from Western epi...

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Clinical Challenges in Diagnosing the Genetic Etiology of Hearing Loss

Cited by 6 publications

References 69 publications

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

Community-based audiology services: An effective strategy for the prevention of hearing loss in rural communities

Tele-audiology and preventive audiology: A capacity versus demand challenge imperative in South Africa

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