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Hearing impairment and deafness: genetic and environmental factors - interactions - consequences : a clinical audiological approach
Örebro University, Department of Nursing and Caring Sciences.
2005 (English)Doctoral thesis, comprehensive summary (Other academic)Alternative title
Hörselnedsättning och dövhet : ett kliniskt audiologiskt angreppssätt (Swedish)
Abstract [en]

OBJECTIVES - Hearing impairment (HI) can be due to genetic or environmental factors, e.g. noise. More than 50% of HI cases are thougt to be hereditary. HI can affect social participation in different ways. How serious these problems becomes depends on several factors, for example, the type of social environment the person lives in. The objective of the present study was to point out the importance of studying HI and deafness in a broad perspective, from the molecular - biological level to the psychological - social level and to evaluate how interactions of factors at several levels form the consequences, in a long-term perspective, to witch HI and deafness can lead. MATERIAL AND METHODS - Three different study populations have been used to study the four levels in this study: Papers I - III; 1200 noise-exposed workers (molecular and biological levels), Paper IV; 50 persons with HI since early childhood, with or without a family history of HI (FHHI)(biological, psychological and social level), and in Paper V; 600 persons with early onset of deafness in two counties with differently strong Deaf communities (psychological and social level). RESULTS - The molecular genetic studies (Papers I – III) showed that the combination of smoking and having a mutation in the protective antioxidant system revealed an additional risk for noise induced hearing loss. In Paper IV, only small differences was found between subjects with and without a FHHI. The results in Paper V indicated that differences in the social environment, in terms of the strength of the Deaf community, influence family factors such as marriages, divorces and the number of children born. CONCLUSIONS - Analysing complex issues such as HI and deafness from a medical audiological perspective requires a multi- level approach at several levels. The results indicate that interactions of factors at all four levels form the consequences, in a long-term perspective, to wich HI and deafness can lead. Furthermore, this multi-level approach - here called a clinical audiological approach - is essential when using the ICF framework in audiological rehabilitation/habilitation.

Place, publisher, year, edition, pages
Örebro: Örebro universitetsbibliotek , 2005. , p. 81
Series
Örebro Studies in Medicine, ISSN 1652-4063 ; 4
Keywords [en]
Disability studies, hereditary hearing impairment, deafness, noise induced hearing loss, Deaf community, connexin mutations, oxidative stress genes, family history of hearing impairment, audiological rehabilitation, audiological medicine
Keywords [sv]
Handikappforskning
National Category
Social Work Social Sciences Social Sciences
Research subject
Medical Disability Research
Identifiers
URN: urn:nbn:se:oru:diva-94ISBN: 91-7668-426-1 (print)OAI: oai:DiVA.org:oru-94DiVA, id: diva2:137467
Public defence
2005-02-11, Aulan, B-huset, Universitetssjukhuset, Örebro, 10:00 (English)
Opponent
Supervisors
Available from: 2005-01-21 Created: 2005-01-21 Last updated: 2017-10-18Bibliographically approved
List of papers
1. Variabillity in noise susceptibility in a Swedish population: the role of 35delG mutation in the Connexin 26 (GJB2) gene
Open this publication in new window or tab >>Variabillity in noise susceptibility in a Swedish population: the role of 35delG mutation in the Connexin 26 (GJB2) gene
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2004 (English)In: Audiological Medicine, ISSN 1651-386X, E-ISSN 1651-3835, Vol. 2, no 2, p. 123-130Article in journal (Refereed) Published
Abstract [en]

Although it seems that genetic factors can influence individual susceptibility to noise, still very little is known about the genes or the mechanisms involved. The connexin 26 (Cx26) (GJB2) gene is of particular interest to study in relation to noise, since the gene encodes the gap junction protein Cx26. Noise has a metabolic and mechanical effect on the inner ear and may, therefore, interfere with gap junction channels. In order to investigate whether abnormally high susceptibility to noise induced hearing loss (NIHL) in humans is associated with the common 35delG mutation in the Cx26 gene, 1200 noise‐exposed workers were investigated in Sweden. Using a selection procedure based on audiometric analysis, noise exposure data and questionnaires, noise‐exposed workers were divided into two categories: noise susceptible and noise resistant. There was a correspondence in noise susceptibility between this noise‐exposed population and the international reference ISO Standard 1999. Blood samples were drawn from 245 highly selected male subjects (103 noise susceptible, 112 noise resistant and 30 randomized cases), and genomic DNA was analysed with respect to the Cx26 35delG mutation. The incidence of 35delG carriers among this cohort was determined by multiplex, allele‐specific PCR. Two of the 245 subjects (0.8% ‐ [95% confidence interval 0.1–2.9]) were found to be heterozygous carriers of the 35delG mutation, while the remaining 243 subjects were all non‐carriers. Both the heterozygous carriers were found in the noise susceptible group. Statistical evaluation of the results demonstrated no significant difference in carrier incidence between the noise susceptible and noise resistant individuals in our Swedish noise‐exposed population. In conclusion, there was no support for a major role of Cx26 35delG mutation in explaining the variability in noise susceptibility in this Swedish population.

National Category
Medical and Health Sciences Surgery Otorhinolaryngology Social Work
Research subject
Oto-Rhino-Laryngology; Disability Research
Identifiers
urn:nbn:se:oru:diva-3226 (URN)10.1080/16513860410035854 (DOI)
Available from: 2005-01-21 Created: 2005-01-21 Last updated: 2017-12-14Bibliographically approved
2. The influence of genetic variation in oxidative stress genes on human noise susceptibility
Open this publication in new window or tab >>The influence of genetic variation in oxidative stress genes on human noise susceptibility
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2005 (English)In: Hearing Research, ISSN 0378-5955, E-ISSN 1878-5891, Vol. 202, no 1-2, p. 87-96Article in journal (Refereed) Published
Place, publisher, year, edition, pages
Amsterdam: Elsevier, 2005
National Category
Social Sciences Social Sciences Social Work
Research subject
Disability Research
Identifiers
urn:nbn:se:oru:diva-3227 (URN)10.1016/j.heares.2004.09.005 (DOI)
Available from: 2005-01-21 Created: 2005-01-21 Last updated: 2017-12-14Bibliographically approved
3. The influence of genetic factors, smoking and cardiovascular diseases on human noise susceptibility
Open this publication in new window or tab >>The influence of genetic factors, smoking and cardiovascular diseases on human noise susceptibility
(English)Manuscript (Other academic)
National Category
Social Sciences Social Sciences Social Work
Research subject
Disability Research
Identifiers
urn:nbn:se:oru:diva-3228 (URN)
Available from: 2005-01-21 Created: 2005-01-21 Last updated: 2017-10-18Bibliographically approved
4. Early childhood hearing impairment and family history: a long-term perspective
Open this publication in new window or tab >>Early childhood hearing impairment and family history: a long-term perspective
2006 (English)In: The effects of genetic hearing impairment in the family / [ed] Dafydd Stephens, Lesley Jones, Chichester: Wiley , 2006, p. 43-54Chapter in book (Other academic)
Place, publisher, year, edition, pages
Chichester: Wiley, 2006
National Category
Social Sciences Social Sciences Social Work
Research subject
Disability Research
Identifiers
urn:nbn:se:oru:diva-3229 (URN)0-470-02964-1 (ISBN)
Available from: 2005-01-21 Created: 2005-01-21 Last updated: 2017-10-18Bibliographically approved
5. Marital status and birthrate of deaf people in two Swedish counties: the impact of social environment in terms of deaf community
Open this publication in new window or tab >>Marital status and birthrate of deaf people in two Swedish counties: the impact of social environment in terms of deaf community
2004 (English)In: American Annals of the Deaf, ISSN 0002-726X, E-ISSN 1543-0375, Vol. 149, no 5, p. 415-420Article in journal (Refereed) Published
Abstract [en]

Deafness affects many social interactions. The impact of deafness depends on several factors, e.g., the type of social environment in terms of the particular Deaf community a person lives in. The authors recorded the birthrate and the proportions of married and divorced people among deaf people in two Swedish counties: Narke, which had a strong Deaf community, and Varmland, whose Deaf community was weak. In both counties, the authors found that deafness was associated with low marriage rates and low birthrates. Further, in Narke, 99% of the people in the sample were married to another deaf person; only 10% were in Varmland. In Narke, the divorce rate among deaf people was about the same as that of the reference population (i.e., the county's marriage-age population). In Varmland, deaf people had a relatively low divorce rate. The findings are discussed from medical and social perspectives.

National Category
Social Sciences Social Sciences Social Work
Research subject
Disability Research
Identifiers
urn:nbn:se:oru:diva-3230 (URN)10.1353/aad.2005.0010 (DOI)
Available from: 2005-01-21 Created: 2005-01-21 Last updated: 2017-12-14Bibliographically approved

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