| 1. |
- Van Eyken, Els, et al.
(author)
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Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment
- 2007
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In: Journal of Medical Genetics. - : B M J Group. - 0022-2593 .- 1468-6244. ; 44:9, s. 570-578
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Journal article (peer-reviewed)abstract
- BackgroundAge‐related hearing impairment (ARHI) is the most common sensory impairment in older people, affecting 50% of those aged 80 years. The proportion of older people is increasing in the general population, and as a consequence, the number of people affected with ARHI is growing. ARHI is a complex disorder, with both environmental and genetic factors contributing to the disease. The first studies to elucidate these genetic factors were recently performed, resulting in the identification of the first two susceptibility genes for ARHI, NAT2 and KCNQ4.MethodsIn the present study, the association between ARHI and polymorphisms in genes that contribute to the defence against reactive oxygen species, including GSTT1, GSTM1 and NAT2, was tested. Samples originated from seven different countries and were combined into two test population samples, the general European population and the Finnish population. Two distinct phenotypes for ARHI were studied, Zlow and Zhigh, representing hearing in the low and high frequencies, respectively. Statistical analysis was performed for single polymorphisms (GSTM1, GSTT1, NAT2*5A, NAT2*6A, and NAT2*7A), haplotypes, and gene–environment and gene–gene interactions.ResultsWe found an association between ARHI and GSTT1 and GSTM1 in the Finnish population sample, and with NAT2*6A in the general European population sample. The latter finding replicates previously published data.ConclusionAs replication is considered the ultimate proof of true associations in the study of complex disorders, this study provides further support for the involvement of NAT2*6A in ARHI.
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| 2. |
- Van Laer, Lut, et al.
(author)
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The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
- 2008
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In: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 17:2, s. 159-169
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Journal article (peer-reviewed)abstract
- Age-related hearing impairment (ARHI) is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. The contribution of various environmental factors has been relatively extensively studied. In contrast, investigations to identify the genetic risk factors have only recently been initiated. In this paper we describe the results of an association study performed on 2418 ARHI samples derived from nine centers from seven European countries. In 70 candidate genes, a total of 768 tag single nucleotide polymorphisms (SNPs) were selected based on HAPMAP data. These genes were chosen among the monogenic hearing loss genes identified in mice and men in addition to several strong functional candidates. After genotyping and data polishing, statistical analysis of all samples combined resulted in a P-value that survived correction for multiple testing for one SNP in the GRHL2 gene. Other SNPs in this gene were also associated, albeit to a lesser degree. Subsequently, an analysis of the most significant GRHL2 SNP was performed separately for each center. The direction of the association was identical in all nine centers. Two centers showed significant associations and a third center showed a trend towards significance. Subsequent fine mapping of this locus demonstrated that the majority of the associated SNPs reside in intron 1. We hypothesize that the causative variant may change the expression levels of a GRHL2 isoform.
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| 3. |
- Huyghe, Jeroen R., et al.
(author)
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Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
- 2008
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In: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 83:3, s. 401-407
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Journal article (peer-reviewed)abstract
- Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important role in the etiology of human ARHI as revealed by heritability studies, to date, its precise genetic determinants remain elusive. Here we report the results of a cross-sectional family-based genetic study employing audiometric data. By using principal component analysis, we were able to reduce the dimensionality of this multivariate phenotype while capturing most of the variation and retaining biologically important features of the audiograms. We conducted a genome-wide association as well as a linkage scan with high-density SNP microarrays. Because of the presence of genetic population substructure, association testing was stratified after which evidence was combined by meta-analysis. No association signals reaching genome-wide significance were detected. Linkage analysis identified a linkage peak on 8q24.13-q24.22 for a trait correlated to audiogram shape. The signal reached genome-wide significance, as assessed by simulations. This finding represents the first locus for an ARHI trait.
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| 4. |
- Van Eyken, Els, et al.
(author)
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The Contribution of GJB2 (Connexin 26) 35delG to Age-Related Hearing Impairment and Noise-Induced Hearing Loss
- 2007
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In: Otology and Neurotology. - : Lippincott Williams & Wilkins. - 1531-7129 .- 1537-4505. ; 28:7, s. 970-975
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Journal article (peer-reviewed)abstract
- Hypothesis: The common GJB2 (Connexin 26) 35delG mutation might contribute to the development of age-related hearing impairment (ARHI) and noise-induced hearing loss (NIHL).Background: GJB2, a gene encoding a gap junction protein expressed in the inner ear, has been suggested to be involved in the potassium recycling pathway in the cochlea. GJB2 mutations account for a large number of individuals with nonsyndromic recessive hearing loss, with 35delG being the most frequent mutation in populations of European origin. Other genes involved in potassium homeostasis have been suggested to be associated with ARHI and NIHL, and distortion product otoacoustic emission distortions indicative of hearing loss alterations have been found in 35delG carriers.Method: We genotyped 35delG in two distinct sample sets: an ARHI sample set, composed of 2,311 Caucasian samples from nine different centers originating from seven different countries with an age range between 53 and 67 years, and an NIHL sample set consisting of 702 samples from the two extremes of a noise-exposed Polish sample.Results: After statistical analysis, we were unable to detect an association between 35delG and ARHI, nor between 35delG and NIHL.Conclusion: Our findings indicate that there is no increased susceptibility in 35delG carriers for the development of ARHI or NIHL.
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| 5. |
- Manchaiah, Vinaya K. C., 1983-, et al.
(author)
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Use of the ‘patient journey’ model in the internet-based pre-fitting counseling of a person with hearing disability : study protocol for a randomized controlled trial
- 2013
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In: Trials. - : BioMed Central. - 1745-6215. ; 14:25
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Journal article (peer-reviewed)abstract
- BackgroundHearing impairment is one of the most frequent chronic conditions. Persons with a hearing impairment (PHI) have various experiences during their ‘journey’ through hearing loss. In our previous studies we have developed a ‘patient journey’ model of PHI and their communication partners (CPs). We suggest this model could be useful in internet-based pre-fitting counseling of a person with hearing disability (PHD).Methods/DesignA randomized controlled trial (RCT) with waiting list control (WLC) design will be used in this study. One hundred and fifty eight participants with self-reported hearing disability (that is, score >20 in the Hearing Handicap Questionnaire (HHQ)) will be recruited to participate in this study. They will be assigned to one of two groups (79 participants in each group): (1) Information and counseling provision using the ‘patient journey’ model; and (2) WLC. They will participate in a 30 day (4 weeks) internet-based counseling program based on the ‘patient journey’ model. Various outcome measures which focuses on hearing disability, depression and anxiety, readiness to change and acceptance of hearing disability will be administered pre (one week before) and post (one week and six months after) intervention to evaluate the effectiveness of counseling.DiscussionInternet-based counseling is being introduced as a viable option for audiological rehabilitation. We predict that the ‘patient journey’ model will have several advantages during counseling of a PHD. Such a program, if proven effective, could yield cost and time-efficient ways of managing hearing disability.
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| 6. |
- Chundu, Srikanth, et al.
(author)
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Parental reported benefits and shortcomings of cochlear implantation : Pilot study findings from Southeast Asia
- 2013
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In: Cochlear Implants International. - : Maney Publishing. - 1467-0100 .- 1754-7628. ; 14:1, s. 22-27
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Journal article (peer-reviewed)abstract
- Objective The aim of the study was to understand the reported benefits and shortcomings by parents of children with cochlear implants and who contribute towards the cost of the implant. Method Thirty parents of children with cochlear implants from a hearing impaired school in Southeast Asia completed open-ended questionnaires and the data were analysed using content analysis. Results A wide range of benefits and shortcomings were reported. However, it is notable that the single most reported shortcoming was related to cost. Discussion The results suggest that, even though, in general, the reports about benefits and shortcomings were similar to previous results from western countries, the emphasis given to various aspects of shortcomings was different. In particular, it appears that parentally reported outcomes could be related to many factors including the hearing healthcare system with the costs involved for the implanted individuals and their families. These findings help us understand the parental perspectives of the success of cochlear implantation and will be useful during parental counselling sessions.
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| 7. |
- C. Manchaiah, Vinaya K., 1983-, et al.
(author)
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Information about the prognosis given to sudden-sensorineural hearing loss patients: Implications to 'patient journey' process
- 2012
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In: Audiological Medicine. - London, UK : Informa Healthcare. - 1651-386X .- 1651-3835. ; 10:3, s. 109-113
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Journal article (peer-reviewed)abstract
- Objective: The aim of this short paper is to highlight the implications of information provision about prognosis given to sudden sensorineural hearing loss (SSNHL) patients. Method: Semi-structured interviews were conducted with four SSNHL patients to develop the patient journey model that is published in our previous paper (12). In this study the implications from general, ethical and legal perspectives about the information provision were considered (i.e. discussion with experts and the use of relevant literature). Results: Three out of four patients interviewed reported that their doctors (both general practitioners and ENT specialists) gave false hopes about prognosis. From the preliminary data it appears that there is considerable variability in the views expressed by patients about preference in information provision. However, this issue needs consideration as the information provided by professionals may have a serious impact on service provision and outcome. Conclusions: It is our view that even though, in some instances, it may appear that false hope provides short-term psychological benefit to patients, providing full and honest information is necessary for general (i.e. to facilitate patient journey process), ethical and legal reasons.
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| 8. |
- C. Manchaiah, Vinaya K., 1983-, et al.
(author)
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Life consequences and positive experiences reported by communication partners of person with hearing impairment: A pilot study
- 2013
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In: Speech, Language and Hearing. ; 16:1, s. 1-7
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Journal article (peer-reviewed)abstract
- The aim of this study was to obtain insights into the life consequences and positive experiences reported by the communication partners (CPs) of person with hearing impairment (PHI). Open-ended questionnaires and semi-structured interviews were conducted with nine CPs who were recruited through the Swansea hearing impaired support group. Data were analyzed using thematic analysis. The results identified a number of life consequences and positive experiences of CPs and PHIs as reported by the CPs. The main life consequences experienced by both CPs and PHIs were related to communication and psychological aspects. The main positive experiences for the CPs were related to personal development and improved relationships and for PHIs were related to the use of hearing loss for self-advantage. Surprisingly, most of the participants were able to identify at least one positive experience. The study also suggested that open-ended questionnaires were a good way to understand life consequences and positive experiences by CPs and such responses can be further elicited by providing some prompts through a semi-structured interview. The study method and results could be useful in involving CPs in audiological enablement/rehabilitation sessions. These findings add to the growing literature that reported positive experiences canbe used during counseling sessions, to motivate the PHIs and their CPs and to boost their positive morale.
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| 9. |
- C. Manchaiah, Vinaya K., 1983-, et al.
(author)
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Perspectives in defining ‘hearing loss’ and its consequences
- 2013
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In: Hearing, Balance and Communication.
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Journal article (peer-reviewed)abstract
- Objective: This discussion paper aims to highlight factors that may be important in defining hearing loss and its consequences and to present different perspectives based on various models of disability. Method: Relevant literature was reviewed to develop the discussion. Results: Hearing is a complex function that has both cognitive and emotional aspects. A person with hearing loss may have consequences in the physical, mental and social domains. Hearing loss in the context of clinical audiology is currently defined based on type of pathology and severity. However, evidence from both clinical findings and research suggest that this may not cover all the aspects of ‘hearing loss’ as a disability. Conclusion: Defining and describing hearing loss and its consequences with a holistic approach has some clinical value particularly in the context of audiological enablement/rehabilitation.
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| 10. |
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