| 1. |
- Hartel, Bas P., et al.
(author)
-
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
- 2016
-
In: Hearing Research. - Amsterdam, Netherlands : Elsevier. - 0378-5955 .- 1878-5891. ; 339, s. 60-68
-
Journal article (peer-reviewed)abstract
- Objectives: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.Design: A retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.Results: Cross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.Conclusions: The results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.
|
|
| 2. |
- Hoff, Maria, 1981, et al.
(author)
-
Improved hearing in Swedish 70-year olds—a cohort comparison over more than four decades (1971–2014)
- 2018
-
In: Age and Ageing. - : Oxford University Press (OUP). - 0002-0729 .- 1468-2834. ; 47:3, s. 437-444
-
Journal article (peer-reviewed)abstract
- Objective the world population is ageing rapidly. In light of these demographic changes, it is of interest to generate current data regarding the prevalence and characteristics of age-related hearing loss. The purpose of this study was to investigate hearing acuity and the prevalence of hearing loss in a contemporary age-homogenous cohort of old adults, and to assess secular trends in hearing function during the last half-century (1971–2014). Methods we performed a prospective population-based cohort comparison study of unscreened populations. As part of a geriatric population-based study (H70), a new cohort of 70-year olds (n = 1,135) born in 1944 was tested with computerised automated pure-tone audiometry. The hearing thresholds were compared to three earlier born cohorts of 70-year olds, born in 1901–02 (n = 376), 1906–07 (n = 297) and 1922 (n = 226), respectively. Results significant improvements in median pure-tone thresholds were seen at several frequencies in both men (range: 5–20 dB, P < 0.01) and women (range: 5–10 dB, P < 0.01). When investigating the effect of birth cohort on hearing in a linear regression, significant trends were found. Men’s hearing improved more than women’s. The prevalence of hearing loss declined in the study period (1971–2014) from 53 to 28% for men and 37 to 23% for women (P < 0.01). Conclusions these results indicate that the hearing acuity in Swedish 70-year olds has improved significantly over more than four decades. The largest improvements were seen at 4–6 kHz in men, possibly reflecting a decrease in occupational noise exposure. Further studies are required to pinpoint the reasons for improved hearing-health among older people.
|
|
| 3. |
- Sadeghi, André M., et al.
(author)
-
Expressivity of hearing loss in cases with Usher syndrome type IIA
- 2013
-
In: International Journal of Audiology. - : Routledge. - 1499-2027 .- 1708-8186. ; 52:12, s. 832-837
-
Journal article (peer-reviewed)abstract
- Objective: The purpose of this study was to compare the genotype/ phenotype relationship between siblings with identical USH2A pathologic mutations and the consequent audiologic phenotypes, in particular degree of hearing loss (HL). Decade audiograms were also compared among two groups of affected subjects with different mutations of USH2A.Design: DNA samples from patients with Usher syndrome type II were analysed. The audiological features of patients and affected siblings with USH2A mutations were also examined to identify genotype-phenotype correlations.Study sample: Genetic and audiometric examinations were performed in 18 subjects from nine families with Usher syndrome type IIA.Results: Three different USH2A mutations were identified in the affected subjects. Both similarities and differences of the auditory phenotype were seen in families with several affected siblings. A variable degree of hearing loss, ranging from mild to profound, was observed among affected subjects. No significant differences in hearing thresholds were found the group of affected subjects with different pathological mutations.Conclusions: Our results indicate that mutations in the USH2A gene and the resulting phenotype are probably modulated by other variables, such as modifying genes, epigenetics or environmental factors which may be of importance for better understanding the etiology of Usher syndrome.
|
|
| 4. |
- Hoff, Maria, 1981, et al.
(author)
-
Hearing loss and cognitive function in early old age: comparing subjective and objective hearing measures.
- 2023
-
In: Gerontology. - : S. Karger AG. - 1423-0003 .- 0304-324X. ; 69:6, s. 694-705
-
Journal article (peer-reviewed)abstract
- Population-based research has consistently shown that people with hearing loss are at greater risk of cognitive impairment. We aimed to explore the cross-sectional association of both subjective and objective hearing measures with global and domain-specific cognitive function. We also examined the influence of hearing aid use on the relationship.A population-based sample (n=1105, 52% women) of 70-year-olds that were representative of the inhabitants of the city of Gothenburg, Sweden completed a detailed cognitive examination, pure-tone audiometry and a questionnaire regarding perceived hearing problems. A subsample (n=247, 52% women) also completed a test of speech-recognition-in-noise (SPRIN). Multiple linear regression analyses were conducted to explore the association of hearing with cognitive function adjusting for sex, education, cardiovascular factors, and tinnitus.Global cognitive function was independently associated with the better ear pure-tone average across 0.5-4 kHz (PTA4, β=-0.13, 95% CI, -0.18, -0.07), the better ear SPRIN score (β=0.30, 95% CI, 0.19, 0.40), but not with the self-reported hearing measure (β=-0.02, 95% CI, -0.07, 0.03). Both verbally loaded and non-verbally loaded tasks, testing a variety of cognitive domains, contributed to the association. Hearing aid users had better global cognitive function than non-users with equivalent hearing ability. The difference was only significant in the mild hearing loss category.In a population-based sample of 70-year-old persons without dementia, poorer hearing was associated with poorer global and domain-specific cognitive function, but only when hearing function was measured objectively and not when self-reported. The speech-in-noise measure showed the strongest association. This highlights the importance of including standardized hearing tests and controlling for hearing status in epidemiological geriatric research. More research is needed on the role that hearing aid use plays in relation to age-related cognitive declines.
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
- Flynn, Mark, et al.
(author)
-
Audiological concept behind Baha BP100
- 2009
-
In: 7th Asia Pacific Symposium on Cochlear Implants and Related Sciences (APSCI 2009), Singapore, 1-4 December.
-
Conference paper (other academic/artistic)
|
|
| 9. |
|
|
| 10. |
|
|
