| 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. |
- Kollén, Lena, 1960-, et al.
(author)
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Physical functioning in older persons with dizziness : a population-based study
- 2017
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In: Aging Clinical and Experimental Research. - : Springer. - 1594-0667 .- 1720-8319. ; 29:2, s. 197-205
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Journal article (peer-reviewed)abstract
- Background: Dizziness is one of the most prevalent symptoms in old age and tends to increase with age.Aims: To report physical functioning, health-related aspects and gender differences in elderly persons with and without dizziness in a population-based sample of 75-year-olds.Methods: A cross-sectional sample of 75-year-olds from Gothenburg, Sweden (n = 675, 398 women and 277 men) was examined by means of questionnaires and functional tests. The questions concerned dizziness/imbalance, physical activity level, walking habits, falls efficacy, number of falls, subjective health or general fatigue and medication. The tests included were self-selected and maximum gait speed, stair climbing capacity, one leg stance and grip strength.Results: More women than men reported dizziness/imbalance (40 vs 30 %, p < 0.001). Persons with dizziness, compared to those without dizziness, less often regularly exercised at a moderate intensity level (summer: 62 vs 74 %, p < 0.001; winter: 41 vs 51 %, p < 0.001), less often took a daily walk (p < 0.05), had lower scores on the FES(S) (p < 0.001), more often reported general fatigue (p < 0.001), more often had fallen in the previous year (40 vs 23 %, p < 0.001) and had a higher intake of medical drugs (4.6 vs 3.3, p < 0.001). They also performed worse regarding gait speed, stair climbing and one leg stance (p < 0.001), but there was no difference in grip strength.Conclusion: Older persons with dizziness are less physically active, have worse lower extremity function, are more often fallers and report lower self-rated health than persons without dizziness.
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| 5. |
- Flynn, Traci, 1973, et al.
(author)
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A longitudinal study of hearing and middle ear status in adolescents with cleft lip and palate
- 2013
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In: The Laryngoscope. - : Wiley. - 0023-852X .- 1531-4995. ; 123:6, s. 1374-1380
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Journal article (peer-reviewed)abstract
- OBJECTIVES/HYPOTHESIS: To study longitudinal prevalence of otitis media with effusion (OME) in children between 7 and 16 years of age by cleft group, and hearing sensitivity across time and across frequencies. STUDY DESIGN: Retrospective and longitudinal. METHODS: All children with cleft palate born from 1991 to 1993 were included in the study (n = 58). Audiological and otological data were reviewed at 7, 10, 13, and 16 years of age. The group was divided by cleft type (24 unilateral cleft lip and palate, 23 cleft palate only, and 11 bilateral cleft lip and palate). RESULTS: The prevalence of abnormal middle ear status decreased significantly with age. When comparing cleft types, the isolated cleft palate group presented with a significantly lower prevalence of abnormal middle ear status than the other groups at 7 and 16 years of age (21% as compared to 32% in the unilateral group and 38% in the bilateral group). The pure-tone average improved with age, while the high-frequency pure-tone average did not. When cleft types were compared, the bilateral group demonstrated significantly poorer hearing in the high frequencies than the other groups. CONCLUSION: Children with cleft palate need regular audiological and otological follow-up to ensure management is appropriate and timely. The increased hearing thresholds in the high frequencies may be due to the increased episodes of OME.
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| 6. |
- Flynn, Traci, 1973, et al.
(author)
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A longitudinal study of hearing and middle ear status of individuals with cleft palate with and without additional malformations/syndromes.
- 2014
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In: The Cleft Palate-Craniofacial Journal. - : SAGE Publications. - 1055-6656 .- 1545-1569. ; 51:5
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Journal article (peer-reviewed)abstract
- Objective: To describe and compare the middle ear status and hearing sensitivity in adolescence with isolated cleft palate plus additional malformations and/or syndromes with those with only an isolated cleft palate. Design: Retrospective and longitudinal. Two groups of individuals with isolated cleft palate were compared. Participants: A cohort of individuals born over 4 years in the western region of Sweden. The cohort was divided into one group with isolated cleft palate (n = 31; ICP) and one group with isolated cleft palate plus additional malformations and/or syndromes (n = 37; ICP+). Methods: Middle ear status and hearing thresholds were collected from the medical records at 7, 10, 13, and 16 years of age, examined, and compared within and between groups over time. Results: The ICP+ group demonstrated a significantly higher prevalence of abnormal middle ear status and elevated hearing thresholds as compared with the ICP group. As the individuals aged, the prevalence of abnormal middle ear status decreased. The hearing levels in both groups decreased in the low to middle frequencies as individuals aged; however, the hearing in the high frequencies did not. Conclusions: Individuals with cleft palate need to be followed routinely for middle ear status and hearing thresholds to ensure optimal audiological rehabilitation, with particular attention to those with additional malformations and/or syndromes.
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| 7. |
- Flynn, Traci, 1973, et al.
(author)
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Hearing and otitis media with effusion in young adults with cleft lip and palate
- 2012
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In: Acta Oto-Laryngologica. - Oxfordshire, United Kingdom : Informa UK Limited. - 0001-6489 .- 1651-2251. ; 132:9, s. 959-966
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Journal article (peer-reviewed)abstract
- Conclusion: Speech recognition in noise is affected when otitis media with effusion (OME) is present in young adults with unilateral cleft lip and palate. Objective: The objective of this study was to describe the hearing and performance on auditory tasks of young adults with unilateral cleft lip and palate as compared to young adults without cleft lip and palate. Methods: Twenty-six young adults with unilateral cleft lip and palate and 23 young adults without cleft lip and palate participated in the study. Pure tone audiometry, tympanometry, speech recognition in noise at the word and sentence level, and masking level difference were examined. Results: Results revealed elevated hearing thresholds in the young adults with cleft lip and palate as compared with young adults without cleft lip and palate. No differences concerning speech recognition in noise and binaural processing were observed between the young adults with cleft lip and palate and those without. However, there was poorer speech recognition performance in those adults with unilateral cleft lip and palate and OME on the day of testing as compared with young adults with unilateral cleft lip and palate without OME on the day of testing.
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| 8. |
- 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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| 9. |
- 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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| 10. |
- 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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