The effects of Ménière's disorder on the patient's significant others.

OBJECTIVE: To determine the effects of their partners' MD on the significant others of the patients. DESIGN: Open-ended questionnaire. STUDY SAMPLE: Significant others of members of the Finnish Ménière's Federation. RESULTS: The predominant responses concerned effects on their lives and lifestyle--participation restrictions (effects on personal and community life)--and on personal contextual factors (uncertainty of life). In contrast they fail to list such effects of the patients, focussing rather on the patients' symptoms. Five percent of the responses given entailed positive experiences. CONCLUSIONS: Significant others of patients with MD listed a wide range of effects of their partner's condition on them. We encourage doctors and therapists to include the significant others in the rehabilitation process to enable them to understand the patient's condition, to help the significant other, and so better support the patients concerned.

GRM7 variants confer susceptibility to age-related hearing impairment.

Age-related hearing impairment (ARHI), or presbycusis, is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. Here we describe the results of the first whole genome association study for ARHI. The study was performed using 846 cases and 846 controls selected from 3434 individuals collected by eight centers in six European countries. DNA pools for cases and controls were allelotyped on the Affymetrix 500K GeneChip for each center separately. The 252 top-ranked single nucleotide polymorphisms (SNPs) identified in a non-Finnish European sample group (1332 samples) and the 177 top-ranked SNPs from a Finnish sample group (360 samples) were confirmed using individual genotyping. Subsequently, the 23 most interesting SNPs were individually genotyped in an independent European replication group (138 samples). This resulted in the identification of a highly significant and replicated SNP located in GRM7, the gene encoding metabotropic glutamate receptor type 7. Also in the Finnish sample group, two GRM7 SNPs were significant, albeit in a different region of the gene. As the Finnish are genetically distinct from the rest of the European population, this may be due to allelic heterogeneity. We performed histochemical studies in human and mouse and showed that mGluR7 is expressed in hair cells and in spiral ganglion cells of the inner ear. Together these data indicate that common alleles of GRM7 contribute to an individual's risk of developing ARHI, possibly through a mechanism of altered susceptibility to glutamate excitotoxicity.

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.

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.

Interventions following hearing screening in adults: a systematic descriptive review.

OBJECTIVE: Adult hearing screening may be a solution to the under-diagnosis and under-treatment of hearing loss in adults. Limited use and satisfaction with hearing aids indicate that consideration of alternative interventions following hearing screening may be needed. The primary aim of this study is to provide an overview of all intervention types that have been offered to adult (≥ 18 years) screen-failures. DESIGN: Systematic literature review. Articles were identified through systematic searches in PubMed, EMBASE, Cinahl, the Cochrane Library, private libraries, and through reference checking. RESULTS: Of the initial 3027 papers obtained from the searches, a total of 37 were found to be eligible. The great majority of the screening programmes (i.e. 26) referred screen-failures to a hearing specialist without further rehabilitation being specified. Most of the others (i.e. seven) led to the provision of hearing aids. Four studies offered alternative interventions comprising communication programme elements (e.g. speechreading, hearing tactics) or advice on environmental aids. CONCLUSIONS: Interventions following hearing screening generally comprised referral to a hearing specialist or hearing aid rehabilitation. Some programmes offered alternative rehabilitation options. These may be valuable as an addition to or replacement of hearing aid rehabilitation. It is recommended that this be addressed in future research.

Definitions of types of hearing impairment: a discussion paper.

OBJECTIVE: To develop a clear and meaningful set of definitions of types of hearing impairment. METHOD: A critical analysis was made of previous definitions together with a consideration of current knowledge of functions and dysfunctions of the auditory system. RESULTS AND CONCLUSIONS: A coherent set of definitions compatible with the contemporary understanding of auditory disorders and their perceptual effects is proposed.

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.

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.

Use of ICF in assessing the effects of Meniere's disorder on life.

OBJECTIVES: We sought to determine the value of the World Health Organization's International Classification of Functioning, Disability and Health (ICF) in subjects with Meniere's disorder in relation to their quality of life. METHODS: We asked 228 members of the Finnish Meniere Federation to report the effects that Meniere's disorder had on their lives. The replies were classified on the basis of the ICF classification and related to the EuroQol 5D score and disease-specific impact. Logistic regression and decision tree analyses were used to determine the relationships. RESULTS: Seventy percent of the patients listed impairments, 39% activity limitations, 47% participation restrictions, 16% effects on environmental contextual factors, and 28% effects on personal contextual factors. The EuroQol 5D score was explained by reported vertigo, anxiety, fatigue, restriction of life, and communication problems. The disease-specific impact was explained by episodes of vertigo, fatigue, communication problems, inability to work, restriction of life, and uncertainty of life. Both analysis models provided the same outcome variables, although the decision tree separated the results better (80%) into correct classes than did logistic regression analysis (60%). CONCLUSIONS: Self-reported participation restriction, activity limitation, and personal contextual factors describe the limitations of general life in subjects with Meniere's disorder. The use of the ICF classification provides an instrument that can be used in enablement of subjects with Meniere's disorder.

Positive experiences and quality of life in Ménière's disorder.

The objective of this study was to determine the influence of positive experiences on the quality of life of patients with Ménière's disorder. Its deign comprised a cross-sectional investigation of members of a self-help group, using a questionnaire of positive experiences, an oto-neurological questionnaire, EuroQol, and Ménière's impact rating. The study sample was 542 members of the Finnish Ménière Federation. Results showed that the positive questions explained 21% of the variance of the EuroQol TTO, 31% of the EuroQol VAS measure, and 35% of the Ménière's impact. This compared with 40% of the variance explained by symptomatic complaints. When both the symptoms and positive measures were taken together, there was an increase in the proportion of the variance explained for the VAS (42%) and Ménière's rating (50%), but not for the TTO (42%). A perspective on the disorder was the main positive experience associated with the increased variance explained. Positive experiences have a significant impact on self-rated quality of life. The results suggest that encouraging a positive perspective on the condition, in addition to treating the underlying symptoms, could be useful in rehabilitative management.

Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study.

A multicenter study was set up to elucidate the environmental and medical risk factors contributing to age-related hearing impairment (ARHI). Nine subsamples, collected by nine audiological centers across Europe, added up to a total of 4,083 subjects between 53 and 67 years. Audiometric data (pure-tone average [PTA]) were collected and the participants filled out a questionnaire on environmental risk factors and medical history. People with a history of disease that could affect hearing were excluded. PTAs were adjusted for age and sex and tested for association with exposure to risk factors. Noise exposure was associated with a significant loss of hearing at high sound frequencies (>1 kHz). Smoking significantly increased high-frequency hearing loss, and the effect was dose-dependent. The effect of smoking remained significant when accounting for cardiovascular disease events. Taller people had better hearing on average with a more pronounced effect at low sound frequencies (<2 kHz). A high body mass index (BMI) correlated with hearing loss across the frequency range tested. Moderate alcohol consumption was inversely correlated with hearing loss. Significant associations were found in the high as well as in the low frequencies. The results suggest that a healthy lifestyle can protect against age-related hearing impairment.

Positive experiences associated with Ménière's disorder.

OBJECTIVE: To investigate whether individuals with Ménière's disorder are able to recognize positive experiences associated with their condition. STUDY DESIGN AND SETTING: Open-ended questionnaire sent to a sample of members of the Finnish Ménière Federation. PATIENTS: Two hundred seventy-two members of the Finnish Ménière Federation reporting a diagnosis compatible with the condition. INTERVENTION: Postal questionnaire. MAIN OUTCOME MEASURE: Number of respondents listing positive experiences related to their condition. Categories of responses listed and number of responses within the different categories. RESULTS: One hundred eighty-one responded; 75% of respondents listed positive experiences associated with their Ménière's disorder. These were categorized into 6 themes: (1) Personal Development; (2) Leisure, Lifestyle, and General Health; (3) Managing the Disorder; (4) Ménière's Disease-specific Responses; (5) Ménière's Society-related Responses; and (6) Interrelationships with Others. The largest number of responses (85) was in the Ménière's Disease-specific Responses category and most related to a better understanding of the condition. The most common response in Interrelationships with Others was Empathy with Other Sufferers. The most beneficial with regard to the disease was the answer for Lifestyle because "they have learned to fulfill their own needs." Giving a positive answer was significantly correlated with Quality of Life. CONCLUSION: Most individuals with Ménière's disorder are able to identify a number of positive experiences associated with the condition. Understanding and having knowledge of these positive experiences help the patients cope with chronic conditions such as Ménière's disorder. Promotion of positive experiences may form a key element to better adjustment to the different symptoms and provide a key element for successful peer support program.

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss.

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.

Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy.

Hearing impairment has long been associated with the rarer forms of severe childhood and infantile facioscapulohumeral muscular dystrophy. Recent studies have suggested a high prevalence in classic, adult or adolescent, onset cases as well. We undertook detailed pure tone audiometric examination of 21 adult onset facioscapulohumeral muscular dystrophy cases. Patient results were compared with normative data obtained from the (United Kingdom) National Study of Hearing (The prevalence and distribution of hearing impairment and reported hearing disability in the MRC Institute of Hearing Research's National Study of Hearing, Whurr, 1995). There was no significant difference in the prevalence of hearing impairment in facioscapulohumeral muscular dystrophy patients at any single or averaged frequency tested. In this group of patients, pure tone audiometric thresholds were consistently better in the facioscapulohumeral muscular dystrophy patients, although these reached statistical significance only at 4 and 6 kHz. Age of onset, disease duration, clinical severity, degree of facial weakness and double-digest fragment size made no significant difference to mean hearing thresholds. We conclude that hearing impairment is not more common in adult onset facioscapulohumeral muscular dystrophy, and according to this data, may even, be less prevalent than in the normal population.

The epidemiology of hearing problems: how should we investigate it?

Within published reports, the prevalence of reported hearing difficulties is quite variable. In the present study, we have considered factors that could influence the apparent prevalence of hearing difficulties in the Welsh population, surveyed in a number of different studies. The first important factor to emerge was whether the questions were asked in the context of a general health approach (together with questions about other aspects of health), in which case the prevalence was usually less than 15%. When the same questions were posed in conjunction with a number of other questions on auditory function the prevalence was 20% or greater. Secondly, when a household survey approach is used, with one person being asked to respond on behalf of all members of the household, the prevalence among those reporting is markedly higher than among the other members of the household whose problems they are reporting.

Parental reported benefits and shortcomings of cochlear implantation: Pilot study findings from Southeast Asia.

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.

Communication Partners' Journey through Their Partner's Hearing Impairment.

The objective of this study was to further develop the Ida Institute model on communication partners' (CPs) journey through experiences of person with hearing impairment (PHI), based on the perspectives of CPs. Nine CPs of hearing aid users participated in this study, recruited through the Swansea hearing impaired support group. Semi-structured interviews were conducted, the data were analysed using qualitative thematic analysis and presented with the use of process mapping approach. Seven main phases were identified in the CP journey which includes: (1) contemplation, (2) awareness, (3) persuasion, (4) validation, (5) rehabilitation, (6) adaptation, and (7) resolution. The Ida Institute model (based on professionals' perspective) was compared with the new template developed (based on CPs' perspectives). The results suggest some commonalities and differences between the views of professionals and CPs. A new phase, adaptation, was identified from CPs reported experiences, which was not identified by professionals in the Ida Institute model. The CP's journey model could be a useful tool during audiological enablement/rehabilitation sessions to promote discussion between the PHI and the CP. In addition, it can be used in the training of hearing healthcare professionals.

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.

BACKGROUND: Hearing 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/DESIGN: A 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. DISCUSSION: Internet-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. TRIAL REGISTRATION: ClinicalTrials.gov Protocol Registration System NCT01611129.

Familial aggregation of pure tone hearing thresholds in an aging European population.

OBJECTIVE: To investigate the familial correlations and intraclass correlation of age-related hearing impairment (ARHI) in specific frequencies. In addition, heritability estimates were calculated. STUDY DESIGN: Multicenter survey in 8 European centers. SUBJECTS: One hundred ninety-eight families consisting of 952 family members, screened by otologic examination and structured interviews. Subjects with general conditions, known to affect hearing thresholds or known otologic cause were excluded from the study. RESULTS: We detected familial correlation coefficients of 0.36, 0.37, 0.36, and 0.30 for 0.25, 0.5, 1, and 2 kHz, respectively, and correlation coefficients of 0.20 and 0.18 for 4 and 8 kHz, respectively. Variance components analyses showed that the proportion of the total variance attributable to family differences was between 0.32 and 0.40 for 0.25, 0.5, 1, and 2 kHz and below 0.20 for 4 and 8 kHz. When testing for homogeneity between sib pair types, we observed a larger familial correlation between female than male subjects. Heritability estimates ranged between 0.79 and 0.36 across the frequencies. DISCUSSION: Our results indicate that there is a substantial shared familial effect in ARHI. We found that familial aggregation of ARHI is markedly higher in the low frequencies and that there is a trend toward higher familial aggregation in female compared with male subjects.

The consequences of tinnitus in long-standing Ménière's disease.

OBJECTIVE: To explore the perceived consequences of tinnitus in patients with long-standing Ménière's disease (MD). METHOD: A questionnaire-based cross-sectional investigation of 183 randomly selected members of the Finnish Ménière's Federation. It assessed general health related quality of life (EQ-5D), a participation restriction scale, self-listed consequences and a rating of effects of MD on life. RESULTS: When the effects of the other cardinal symptoms of Ménière's disease were partialled out, the main reported impacts of tinnitus related to anxiety, sleep and depression. It also contributed to some difficult listening situations and to interactions with significant others. Tinnitus explained a significant component of disease-specific quality of life (QoL), but did not relate significantly to the generic measures used. However, the measure 'mood' in the QoL scale was significantly associated with severe tinnitus. CONCLUSION: The most important specific impacts of tinnitus in chronic Ménière's disease relate to broadly psychological factors and mood.

EuroQol 5D quality of life in Menière's disorder can be explained with symptoms and disabilities.

The purpose of this study was to determine the factors explaining changes in the generic quality of life among patients with Menière's disorder (MD) and to evaluate the EuroQol 5D (EQ-5D) quality-of-life measures. A questionnaire focusing on symptoms and disabilities caused by MD was collected from 726 individuals. General health-related quality of life (EQ-5D) was evaluated using the time trade-off (TTO) and visual-analogue scale (VAS). Personal traits were measured with the sense of coherence. The TTO-VAS score difference was modeled with activity limitations, participation restrictions, attitudes, and symptoms. For TTO as the outcome measure, one symptom-based, three attitude-based, one activity limitation, and one participation restriction item explained 43% of the variability. For VAS, six attitude-based, one symptom-based, three activity limitations, and one participation restriction item explained 43% of the variability of the data. The correlation between TTO and VAS (r=0.515, P<0.001) explained only 27% of the variance. The difference between TTO and VAS was reflected in attitudes towards the illness. The model explained 10% of the variability in the VAS and TTO difference. There was a disease duration effect in the TTO-VAS difference. In conclusion, a symptom-based model combined with disabilities provided a good description of general quality of life in MD. The TTO-based and VAS-based evaluation explained somewhat different aspects of MD. The difference between TTO and VAS could be described as an attitude toward the ailment. Evaluation of disabilities and the difference in TTO and VAS can be used to guide the rehabilitation to promote attitude change.