| 1. |
- Bruder, CEG, et al.
(author)
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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
- 2001
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In: Human Molecular Genetics. - Oxford, United Kingdom : Oxford University Press. - 0964-6906 .- 1460-2083. ; 1, s. 271-
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Journal article (peer-reviewed)abstract
- Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.
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| 2. |
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| 3. |
- Båsjö, Sara, 1983-, et al.
(author)
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Hearing thresholds, tinnitus, and headphone listening habits in nine-year-old children
- 2016
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In: International Journal of Audiology. - : Informa UK Limited. - 1499-2027 .- 1708-8186. ; 55:10, s. 587-596
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Journal article (peer-reviewed)abstract
- Objective: Investigate hearing function and headphone listening habits in nine-year-old Swedish children. Design: A cross-sectional study was conducted and included otoscopy, tympanometry, pure-tone audiometry, and spontaneous otoacoustic emissions (SOAE). A questionnaire was used to evaluate headphone listening habits, tinnitus, and hyperacusis. Study sample: A total of 415 children aged nine years. Results: The prevalence of a hearing threshold20dB HL at one or several frequencies was 53%, and the hearing thresholds at 6 and 8kHz were higher than those at the low and mid frequencies. SOAEs were observed in 35% of the children, and the prevalence of tinnitus was 5.3%. No significant relationship between SOAE and tinnitus was found. Pure-tone audiometry showed poorer hearing thresholds in children with tinnitus and in children who regularly listened with headphones. Conclusion: The present study of hearing, listening habits, and tinnitus in nine-year old children is, to our knowledge, the largest study so far. The main findings were that hearing thresholds in the right ear were poorer in children who used headphones than in children not using them, which could be interpreted as headphone listening may have negative consequences to children's hearing. Children with tinnitus showed poorer hearing thresholds compared to children without tinnitus.
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| 4. |
- Dahlström, Örjan, et al.
(author)
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Cognitive training and effects on speech-in noise performance in normal hearing and hearing impaired individuals
- 2015
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In: CHSCOM2015. - : Linköping University Electronic Press. ; , s. 127-127
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Conference paper (other academic/artistic)abstract
- Cognitive training might have potential to improve speech understanding under adverse listening conditions. Here, we have examined the effects of a 5-week computer-based cognitive training program on speech-in-noise-performance, in normal hearing (NH) participants and in participants with mild-to-moderate sensorineural hearing loss (HI).Two groups, matched on gender and age (45-65 years), of 20 participants each (HI and NH respectively) are recruited. Participants perform four test-sessions; inclusion (t0), five weeks (t1), ten weeks (t2) and six months (t3). Training is performed either between t0 and t1, or between t1 and t2 (using a cross-over design), using the computer-based Cogmed training program, approximately 30-40 minutes per day, five days per week, during five weeks. At each session participants are tested in three different ways: (a) cognitive testing (KIPS, SICSPAN, TRT); (b) auditory performance (pure tone-audiometry (air- and bone-conduction) and speech audiometry (HINT, Swedish SPIN-test (SNR +4dB))); (c) cortical activation (MR sessions where participants performed a speech-in-noise task using Hagerman-sentences with steady-state speech-spectrum noise (SSN) and with two competing talkers). MR imaging is performed on a Philips Achieva 1.5 Tesla scanner using a sparse imaging technique in which stimuli are presented during the silent period between successive scans. Participants listen to auditory stimuli under eight different conditions: clear speech, SSN or two competing talkers (each at 90%, 50% and 0% intelligibility), and silent rest. Pre- and post-training, hearing disability is assessed by the Speech-Spatial-Qualities-Questionnaire.The study is on-going and behavioral results as well as results from fMRI will be presented.
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| 5. |
- Henricson, Cecilia, 1980-, et al.
(author)
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Cognitive skills in children with Usher syndrome typ 1 and cochlear implants
- 2012
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In: International Journal of Pediatric Otorhinolaryngology. - Clare, Ireland : Elsevier. - 0165-5876 .- 1872-8464. ; 76:10, s. 1449-1457
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Journal article (peer-reviewed)abstract
- Introduction: Usher syndrome is a genetic condition causing deaf-blindness and is one of the most common causes of syndromic deafness. Individuals with USH1 in Sweden born during the last 15 years have typically received cochlear implants (CI) as treatment for their congenital, profound hearing loss. Recent research in genetics indicates that the cause of deafness in individuals with Usher type 1 (USH1) could be beneficial for the outcome with cochlear implants (CI). This population has not previously been the focus of cognitive research.Objective: The present study aims to examine the phonological and lexical skills and working memory capacity (WMC) in children with USH1 and CI and to compare their performance with children with NH, children with hearing-impairment using hearing-aids and to children with non-USH1 deafness using CI. The participants were 7 children aged 7-16 years with USH1 and CI.Methods: The participants performed 10 sets of tasks measuring phonological and lexical skills and working memory capacity.Conclusions: The results indicate that children with USH1 and CI as a group in general have a similar level of performance on the cognitive tasks as children with hearing impairment and hearing aids. The group with USH1 and CI has a different performance profile on the tests of working memory, phonological skill and lexical skill than children with non-USH1 deafness using CI, on tasks of phonological working memory and phonological skill.
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| 6. |
- Granberg, Sarah, 1973-, et al.
(author)
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The ICF Core Sets for hearing loss - researcher perspective. Part I : Systematic review of outcome measures identified in audiological research
- 2014
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In: International Journal of Audiology. - London, UK : Informa Healthcare. - 1499-2027 .- 1708-8186. ; 53:2, s. 65-76
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Research review (peer-reviewed)abstract
- Objective: To review the literature in order to identify outcome measures used in research on adults with hearing loss (HL) as part of the ICF Core Sets development project, and to describe study and population characteristics of the reviewed studies.Design: A systematic review methodology was applied using multiple databases. A comprehensive search was conducted and two search pools were created, pool I and pool II.Study sample: The study population included adults (>= 18 years of age) with HL and oral language as the primary mode of communication.Results: 122 studies were included. Outcome measures were distinguished by 'instrument type', and 10 types were identified. In total, 246 (pool I) and 122 (pool II) different measures were identified, and only approximately 20% were extracted twice or more. Most measures were related to speech recognition. Fifty-one different questionnaires were identified. Many studies used small sample sizes, and the sex of participants was not revealed in several studies.Conclusion: The low prevalence of identified measures reflects a lack of consensus regarding the optimal outcome measures to use in audiology. Reflections and discussions are made in relation to small sample sizes and the lack of sex differentiation/descriptions within the included articles.
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| 7. |
- Hua, Håkan, et al.
(author)
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The impact of different background noises : effects on cognitive performance and perceived disturbance in employees with aided hearing impairment and normal hearing
- 2014
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In: Journal of the American Academy of Audiology. - : American Academy of Audiology. - 1050-0545 .- 2157-3107. ; 25:9, s. 859-868
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Journal article (peer-reviewed)abstract
- Background: Health care professionals frequently meet employees with hearing impairment (HI) who experience difficulties at work. There are indications that the majority of these difficulties might be related to the presence of background noise. Moreover, research has also shown that high-level noise has a more detrimental effect on cognitive performance and self-rated disturbance in individuals with HI than low-level noise.Purpose: The purpose of this study was to examine the impact of different types of background noise on cognitive performance and perceived disturbance (PD) in employees with aided HI and normal hearing.Research Design: A mixed factorial design was conducted to examine the effect of noise in four experimental conditions.Study Sample: A total of 40 participants (21 men and 19 women) were recruited to take part in the study. The study sample consisted of employees with HI (n = 20) and normal hearing (n = 20). The group with HI had a mild-moderate sensorineural HI, and they were all frequent hearing-aid users.Intervention: The current study was conducted by using four general work-related tasks (mental arithmetic, orthographic decoding, phonological decoding, and serial recall) in four different background conditions: (1) quiet, (2) office noise at 56 dBA, (3) daycare noise at 73.5 dBA, and (4) traffic noise at 72.5 dBA. Reaction time and the proportion of correct answers in the working tasks were used as outcome measures of cognitive performance. The Borg CR-10 scale was used to assess PD.Data Collection and Analysis: Data collection occurred on two separate sessions, completed within 4 wk of each other. All tasks and experimental conditions were used in a counterbalanced order. Two-way analysis of variance with repeated measures was performed to analyze the results. To examine interaction effects, pairwise t-tests were used. Pearson correlation coefficients between reaction time and proportion of correct answers, and cognitive performance and PD were also calculated to examine the possible correlation between the different variables.Results: No significant between-group or within-group differences in cognitive performance were observed across the four background conditions. Ratings of PD showed that both groups rated PD according to noise level, where higher noise level generated a higher PD. The present findings also demonstrated that the group with HI was more disturbed by higher than lower levels of noise (i.e., traffic and daycare setting compared with office setting). This pattern was observed consistently throughout four working tasks where the group with HI reported a significantly greater PD in the daycare and traffic settings compared with office noise.Conclusions: The present results demonstrate that background noise does not impair cognitive performance in nonauditory tasks in employees with HI and normal hearing, but that PD is affected to a greater extent in employees with HI during higher levels of background noise exposure. In addition, this study also supports previous studies regarding the detrimental effects that high-level noise has on employees with HI. Therefore, we emphasize the need of both self-rated and cognitive measurements in hearing care and occupational health services for both employees with normal hearing and HI.
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| 8. |
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| 9. |
- Danermark, Berth, 1951-, et al.
(author)
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The Creation of a Comprehensive and a Brief Core Set for Hearing Loss Using the International Classification of Functioning, Disability and Health
- 2013
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In: American Journal of Audiology. - : American Speech Language Hearing Association. - 1059-0889 .- 1558-9137. ; 22:2, s. 323-328
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Journal article (peer-reviewed)abstract
- Purpose: In May 2001, to integrate biological, psychological, and social aspects of human functioning, the World Health Assembly endorsed the International Classification of Functioning, Disability and Health (ICF). The aim of this article is to describe the creation of Comprehensive and Brief ICF Core Sets for Hearing Loss. The core sets consist of the most relevant ICF categories for hearing loss. Method and Results: Four preparatory studies were carried out and presented at a consensus conference, resulting in a Comprehensive ICF Core Set for Hearing Loss, consisting of 117 ICF categories, and a Brief ICF Core Set for Hearing Loss, consisting of 27 categories (of the 117). Conclusion: The Comprehensive ICF Core Set for Hearing Loss can be a user-friendly tool for conducting comprehensive, multidisciplinary assessments. The Brief ICF Core Set can be used for many purposes, such as research and population studies. However, its most common use is by individuals seeking to provide a brief description and assessment of functioning of a person with hearing loss.
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| 10. |
- Ehn, Mattias, 1972-, et al.
(author)
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Health, work, social trust, and financial situation in persons with Usher syndrome type 1
- 2018
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In: Work. - : IOS Press. - 1051-9815 .- 1875-9270. ; 60:2, s. 209-220
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Journal article (peer-reviewed)abstract
- BACKGROUND: Research has demonstrated that persons with Usher syndrome type 1 (USH1) have significantly poorer physical and psychological health compared to a reference group.PURPOSE: To explore the relation between work, health, social trust, and financial situation in USH1 compared to a reference group.MATERIAL: Sixty-six persons (18-65 y) from the Swedish Usher database received a questionnaire and 47 were included, 23 working and 24 non-working. The reference group comprised 3,049 working and 198 non-working persons.METHODS: The Swedish Health on Equal Terms questionnaire was used and statistical analysis with multiple logistic regression was conducted.RESULTS: The USH1 non-work group had a higher Odds ratio (95% CI) in poor psychological and physical health, social trust, and financial situation compared to the USH1 work group and reference groups. Age, gender, hearing, and vision impairment did not explain the differences. The relation between the USH1 work and non-work groups showed the same pattern as the reference groups, but the magnitude of problems was significantly higher.CONCLUSIONS: Both disability and unemployment increased the risk of poor health, social trust and financial situation in persons with USH1, but having an employment seemed to counteract the risks related to disability.
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