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| 2. |
- Wahlqvist, Moa, 1979-
(författare)
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Health and People with Usher syndrome
- 2015
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The present thesis concerns people with Usher syndrome (USH) and their health. People with USH have a congenital hearing loss of various degrees and an eye disease with a progressive course; for some, the balance is also affected. Three clinical groups have been identified 1, 2 and 3, and 13 genes have currently been identified. USH is the most common cause of deafblindness. Clinical knowledge and the limited research that exists have shown that people with deafblindness can experience difficulties in everyday life. Depression, anxiety and social withdrawal have been described.The general aim of the present thesis was to describe the health of people with USH. The empirical material employed was based on an extensive survey in which people with USH answered two questionnaires concerning health, anxiety, depression, social trust, work, health-care, financial situation, and alcohol and drug use. The focus of the present thesis is on general health, physical health and psychological health, social trust and finance. Three studies in the present theses focus on USH1, 2 and 3, respectively; finally, the fourth study provides an in-group comparison of people with USH. The results of studies I and III are compared with a crosssection of the Swedish population. The results revealed poor physical and psychological health, a lack of social trust and a strained financial situation regardless of clinical diagnosis. The discussion stresses the importance of taking a biopsychosocial approach when describing the health of people with USH, in which previous research is lacking. Additional research should focus on the mechanisms at different levels that affect people with USH and their health from a life- course perspective. Furthermore, research should include a salutogenic perspective to explore the resources and strengths of people with USH.
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| 3. |
- Wittich, Walter, et al.
(författare)
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Device abandonment in deafblindness : a scoping review of the intersection of functionality and usability through the International Classification of Functioning, Disability and Health lens
- 2021
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Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 11:1
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Forskningsöversikt (refereegranskat)abstract
- OBJECTIVES: Abandonment of vision, hearing or mobility aids suggests common barriers and facilitators to ongoing device use. However, the possible interactive effects of combined hearing and vision disabilities on device use by those living with deafblindness are unclear. Here we summarise existing knowledge on variables influencing assistive technology use from the perspective of persons living with deafblindness. We used the WHO's International Classification of Functioning, Disability and Health (ICF) framework to contextualise the findings, asking 'What is currently known about variables influencing the (non-)use of assistive devices recommended for persons with deafblindness?'DESIGN: A scoping review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews Checklist.DATA SOURCES: PubMed; ProQuest: ERIC; ProQuest Dissertation; ProQuest: Sociological Thesaurus; Web of Science; Scientific Electronic Library Online; Bielefeld Academic Search Engine; Pascal & Francis; APA PsycINFO and Ebsco for CINAHL were searched through 9 November 2020.ELIGIBILITY CRITERIA: We included peer-reviewed studies that reported on assistive technology, device abandonment/utilisation and provided data from persons living with deafblindness.DATA EXTRACTION AND SYNTHESIS: Four team members independently scored 83 studies for eligibility.RESULTS: Ten articles were chosen for data extraction. The emerging variables replicated established categories of barriers and facilitators: personal, device-related, environmental and intervention variables. The use of the ICF highlighted how an intermediate variable (eg, device acceptability) was necessary in order for a variable to become a barrier or a facilitator to device use.CONCLUSIONS: The variables influencing device use by persons with deafblindness followed the same categories described for single impairments. Usability was challenged in devices that rely on the 'other' sense. Haptic and tactile aids are rarely studied. The limited available information and the dire need for assistive technologies for people with deafblindness emphasises the urgency of research and technology development for this marginalised population.
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| 4. |
- Van Eyken, Els, et al.
(författare)
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Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment
- 2007
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Ingår i: Journal of Medical Genetics. - : B M J Group. - 0022-2593 .- 1468-6244. ; 44:9, s. 570-578
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Tidskriftsartikel (refereegranskat)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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| 5. |
- Uusimaa, Johanna, et al.
(författare)
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Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
- 2007
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Ingår i: Annals of Neurology. - : John Wiley & Sons. - 0364-5134 .- 1531-8249. ; 62:3, s. 278-287
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland.METHODS: Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blood DNA from 522 selected children was analyzed for 3243A>G. Children with the mutation were clinically examined. Information on health history before the age of 18 years was collected from previously identified adult patients with 3243A>G. Mutation segregation analysis in buccal epithelial cells was performed in mothers with 3243A>G and their children whose samples were analyzed anonymously.RESULTS: Eighteen children were found to harbor 3243A>G in a population of 97,609. A minimum estimate for the prevalence of 3243A>G was 18.4 in 100,000 (95% confidence interval, 10.9-29.1/100,000). Information on health in childhood was obtained from 37 adult patients with 3243A>G. The first clinical manifestations appearing in childhood were sensorineural hearing impairment, short stature or delayed maturation, migraine, learning difficulties, and exercise intolerance. Mutation analysis from 13 mothers with 3243A>G and their 41 children gave a segregation rate of 0.80. The mothers with heteroplasmy greater than 50% tended to have offspring with lower or equal heteroplasmy, whereas the opposite was true for mothers with heteroplasmy less than or equal to 50% (p = 0.0016).INTERPRETATION: The prevalence of 3243A>G is relatively high in the pediatric population, but the morbidity in children is relatively low. The random genetic drift model may be inappropriate for the transmission of the 3243A>G mutation.
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| 6. |
- Hansson, Kristina, et al.
(författare)
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Can a 'single hit' cause limitations in language development? A comparative study of Swedish children with hearing impairment and children with specific language impairment.
- 2007
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Ingår i: International Journal of Language & Communication Disorders. - : Wiley. - 1368-2822 .- 1460-6984. ; 42:3, s. 307-323
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Tidskriftsartikel (refereegranskat)abstract
- Studies of language in children with mild-to-moderate hearing impairment ( HI) indicate that they often have problems in phonological shortterm memory (PSTM) and that they have linguistic weaknesses both in vocabulary and morphosyntax similar to children with specific language impairment (SLI). However, children with HI may be more likely than children with SLI to acquire typical language skills as they get older. It has been suggested that the more persisting problems in children with SLI are due to a combination of factors: perceptual, cognitive and/or linguistic. Aims: The main aim of this study was to explore language skills in children with HI in comparison with children with SLI, and how children with both HI and language impairment differ from those with non-impaired spoken language skills. Methods & Procedures: PSTM, output phonology, lexical ability, receptive grammar and verb morphology were assessed in a group of children with mild-to-moderate HI ( n=11) and a group of children with SLI (n=12) aged 5 years 6 months to 9 years 0 months. Outcomes & Results: The HI group tended to score higher than the SLI group on the language measures, although few of the differences were significant. The children with HI had their most obvious weaknesses in PSTM, vocabulary, receptive grammar and inflection of novel verbs. The subgroup of children with HI ( five out of 10) who also showed evidence of grammatical output problems was significantly younger than the remaining children with HI. Correlation analysis showed that the language variables were not associated with age, whereas hearing level was associated with PSTM. Conclusions: Children with HI are at risk for at least a delay in lexical ability, receptive grammar and grammatical production. The problems seen in the HI group might be explained by their low-level perceptual deficit and weak PSTM. For the SLI group the impairment is more severe. From a clinical perspective an important conclusion is that the language development in children with even mild-to-moderate HI deserves attention and support.
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| 7. |
- Lyxell, Björn, et al.
(författare)
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Cognitive development, reading and prosodic skills in children with cochlear implants
- 2009
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Ingår i: Scandinavian Journal of Psychology. - : Wiley. - 1467-9450 .- 0036-5564. ; 50:5, s. 463-474
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Tidskriftsartikel (refereegranskat)abstract
- This report summarizes some of the results of studies in our laboratory exploring the development of cognitive, reading and prosodic skills in children with cochlear implantation (CI). The children with CI performed at significantly lower levels than the hearing comparison group on the majority of cognitive tests, despite showing levels of nonverbal ability. The differences between children with CI and hearing children were most pronounced on tasks with relatively high phonological processing demands, but they were not limited to phonological processing. Impairment of receptive and productive prosody was also evident in children with CI. Despite these difficulties, 75% of the children with CI reached a level of reading skill comparable to that of hearing children. The results are discussed with respect to compensation strategies in reading.
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| 8. |
- Van Laer, Lut, et al.
(författare)
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A genome-wide association study for age-related hearing impairment in the Saami
- 2010
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Ingår i: European Journal of Human Genetics. - : BMJ Publishing Group Ltd. - 1018-4813 .- 1476-5438. ; 18:6, s. 685-693
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Tidskriftsartikel (refereegranskat)abstract
- This study aimed at contributing to the elucidation of the genetic basis of age-related hearing impairment (ARHI), a common multifactorial disease with an important genetic contribution as demonstrated by heritability studies. We conducted a genome-wide association study (GWAS) in the Finnish Saami, a small, ancient, genetically isolated population without evidence of demographic expansion. The choice of this study population was motivated by its anticipated higher extent of LD, potentially offering a substantial power advantage for association mapping. DNA samples and audiometric measurements were collected from 352 Finnish Saami individuals, aged between 50 and 75 years. To reduce the burden of multiple testing, we applied principal component (PC) analysis to the multivariate audiometric phenotype. The first three PCs captured 80% of the variation in hearing thresholds, while maintaining biologically important audiometric features. All subjects were genotyped with the Affymetrix 100 K chip. To account for multiple levels of relatedness among subjects, as well as for population stratification, association testing was performed using a mixed model. We summarised the top-ranking association signals for the three traits under study. The top-ranked SNP, rs457717 (P-value 3.55 x 10(-7)), was associated with PC3 and was localised in an intron of the IQ motif-containing GTPase-activating-like protein (IQGAP2). Intriguingly, the SNP rs161927 (P-value 0.000149), seventh-ranked for PC1, was positioned immediately downstream from the metabotropic glutamate receptor-7 gene (GRM7). As a previous GWAS of a European and Finnish sample set already suggested a role for GRM7 in ARHI, this study provides further evidence for the involvement of this gene.
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| 9. |
- Van Laer, Lut, et al.
(författare)
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The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
- 2008
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Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 17:2, s. 159-169
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Tidskriftsartikel (refereegranskat)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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| 10. |
- Lyxell, Björn, et al.
(författare)
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Cognitive development in children with cochlear implants: Relations to reading and communication
- 2008
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Ingår i: International Journal of Audiology. - : Informa UK Limited. - 1708-8186 .- 1499-2027. ; 47:S2, s. 47-52
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Konferensbidrag (refereegranskat)abstract
- The purpose of the present article is to present an overview of a set of studies conducted in our own laboratory on cognitive and communicative development in children with cochlear implants (CI). The results demonstrate that children with CIs perform at significantly lower levels on the majority of the cognitive tasks. The exceptions to this trend are tasks with relatively lower demands on phonological processing. A fairly high proportion of the children can reach a level of reading comprehension that matches hearing children, despite the fact that they have relatively poor phonological skills. General working memory capacity is further correlated with the type of questions asked in a referential communication task. The results are discussed with respect to issues related to education and rehabilitation.
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