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Ehn, M., Anderzen-Carlsson, A., Möller, C. & Wahlqvist, M. (2019). Life strategies of people with deafblindness due to Usher syndrome type 2a-a qualitative study. International Journal of Qualitative Studies on Health and Well-being, 14(1), Article ID 1656790.
Open this publication in new window or tab >>Life strategies of people with deafblindness due to Usher syndrome type 2a-a qualitative study
2019 (English)In: International Journal of Qualitative Studies on Health and Well-being, ISSN 1748-2623, E-ISSN 1748-2631, Vol. 14, no 1, article id 1656790Article in journal (Refereed) Published
Abstract [en]

Purpose: To explore life strategies in people with Usher syndrome type 2a.

Background: There are no studies on life strategies in people with Usher syndrome. People with deafblindness are often described in terms of poor health and low quality of life, or as being vulnerable. From a clinical point of view, it is of importance to balance this picture, with an increased knowledge of life strategies.

Methods: The study had a qualitative explorative design. Fourteen people aged 20-64 years (4 women, 10 men) with USH2a in Sweden participated in focus group interviews, which were transcribed and analysed by qualitative content analysis.

Results: The content analysis resulted in seven categories; remaining active, using devices, using support, sharing knowledge, appreciating the present, maintaining a positive image and alleviating emotional pain. Two sub-themes: resolve or prevent challenges and comforting oneself was abstracted forming a theme "being at the helm".

Conclusion: The findings show that people with USH2a have a variety of life strategies that can be interpreted as highlighting different aspects of psychological flexibility in a life adjustment process. The study demonstrates that people with USH2a manage in many ways, and metaphorically, by "taking the helm", they strive to actively navigate towards their own chosen values.

Place, publisher, year, edition, pages
Taylor & Francis, 2019
Keywords
Deafblindness, focus groups, life strategies, psychological flexibility, qualitative content analysis, Usher syndrome type 2
National Category
Public Health, Global Health, Social Medicine and Epidemiology Nursing
Identifiers
urn:nbn:se:oru:diva-76565 (URN)10.1080/17482631.2019.1656790 (DOI)000483845400001 ()31470768 (PubMedID)2-s2.0-85071653423 (Scopus ID)
Funder
Swedish Research Council
Note

Funding Agency:

Swedish Institute for Disability Research, Örebro University

Available from: 2019-09-20 Created: 2019-09-20 Last updated: 2019-09-20Bibliographically approved
Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjaerg, L., Cremers, F. P. M., Ygland, E., . . . Puschmann, A. (2019). Oral therapy for riboflavin transporter deficiency: What is the regimen of choice? [Letter to the editor]. Parkinsonism & Related Disorders, 61, 245-247
Open this publication in new window or tab >>Oral therapy for riboflavin transporter deficiency: What is the regimen of choice?
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2019 (English)In: Parkinsonism & Related Disorders, ISSN 1353-8020, E-ISSN 1873-5126, Vol. 61, p. 245-247Article in journal, Letter (Refereed) Published
Place, publisher, year, edition, pages
Elsevier, 2019
Keywords
Ataxia, Recessive, Riboflavin transporter deficiency, Treatment, Brown-Vialetto-Van Laere syndrome-2, BVVLS2, Pharmacokinetics, SLC52A2, Adult
National Category
Neurology
Identifiers
urn:nbn:se:oru:diva-74642 (URN)10.1016/j.parkreldis.2018.10.017 (DOI)000468719900047 ()30343981 (PubMedID)2-s2.0-85065409488 (Scopus ID)
Note

Funding Agencies:

Sickle University Hospital Research Foundation  

Swedish Parkinson Foundation (Parkinsonfonden) in Sweden  

Swedish National Health Services (ALF-YF) in Sweden  

MultiPark a strategic research environment at Lund University in Sweden  

Swedish Parkinson Academy in Sweden  

Hans-Gabriel and Alice Trolle-Wachtmeister Foundation for Medical Research in Sweden  

National Human Genome Research Institute  

National Heart, Lung and Blood Institute  1U54HG006493 

Available from: 2019-06-10 Created: 2019-06-10 Last updated: 2019-06-10Bibliographically approved
Widén, S., Möller, C. & Kähäri, K. (2018). Headphone listening habits, hearing thresholds and listening levels in Swedish adolescents with severe to profound HL and adolescents with normal hearing. International Journal of Audiology, 57(10), 730-736
Open this publication in new window or tab >>Headphone listening habits, hearing thresholds and listening levels in Swedish adolescents with severe to profound HL and adolescents with normal hearing
2018 (English)In: International Journal of Audiology, ISSN 1499-2027, E-ISSN 1708-8186, Vol. 57, no 10, p. 730-736Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: Research has minimally focussed on the music listening habits and preferred sound volumes among adolescents with severe to profound congenital HL. Listening to music played at loud sound volumes and for a long duration of time could imply risks of worsening the HL. Therefore, it is important to investigate the listening habits in adolescents with HL. The aim of the present study was to describe the use of personal music devices, subjective estimated sound levels, measured sound levels, listening habits, and hearing symptoms in adolescents with severe to profound hearing loss compared with adolescents with normal hearing.

DESIGN: The study was conducted in two steps. First, a questionnaire was given to students with or without hearing loss. In step two, hearing and sound level measurements were made in a subsample from both groups.

STUDY SAMPLE: The study sample were based on 112 seventeen-year-old students with severe to profound hearing loss and 279 adolescents with normal hearing. Hearing thresholds and listening levels was measured on two subsamples based on 29 adolescents with severe to profound hearing loss and 50 adolescents from the group with normal hearing.

RESULTS: The results showed that adolescents with severe to profound hearing loss listened to significantly louder sound levels for longer periods. For both groups, those listening at louder sound levels had poorer hearing thresholds. This finding is especially alarming for subjects with hearing loss. Among those listening above 85 dB per occasion, the sound level ranged between 85.8 dB up to 109 dB for those with hearing loss, whereas the sound level ranged between 85.5 dB and 100 dB for those with normal hearing.

CONCLUSIONS: Adolescents with congenital hearing loss used portable music devices in the same manner as adolescents with normal hearing. However, adolescents with hearing loss listened to louder sound volumes most likely to compensate for their hearing loss, which significantly increases the risk of further damage to their hearing. From a hearing rehabilitation perspective it could be concluded that aspect of music listening habits should be focussed in order to prevent noise induced hearing loss among individuals with congenital hearing loss.

Place, publisher, year, edition, pages
Taylor & Francis, 2018
Keywords
Adolescents, headphone listening habits, hearing loss, hearing symptoms, measured sound volumes, personal music devices
National Category
Otorhinolaryngology
Identifiers
urn:nbn:se:oru:diva-66874 (URN)10.1080/14992027.2018.1461938 (DOI)000449788300002 ()29703094 (PubMedID)
Available from: 2018-05-24 Created: 2018-05-24 Last updated: 2018-11-29Bibliographically approved
Ehn, M., Wahlqvist, M., Danermark, B., Dahlström, Ö. & Möller, C. (2018). Health, work, social trust, and financial situation in persons with Usher syndrome type 1. Work: A journal of Prevention, Assessment and rehabilitation, 60(2), 209-220
Open this publication in new window or tab >>Health, work, social trust, and financial situation in persons with Usher syndrome type 1
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2018 (English)In: Work: A journal of Prevention, Assessment and rehabilitation, ISSN 1051-9815, E-ISSN 1875-9270, Vol. 60, no 2, p. 209-220Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
IOS Press, 2018
Keywords
Employment, working life, health, psychological health, dual sensory loss, deafblindness
National Category
Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
urn:nbn:se:oru:diva-68163 (URN)10.3233/WOR-182731 (DOI)000436889900006 ()29865098 (PubMedID)2-s2.0-85049496022 (Scopus ID)
Funder
Swedish Research Council
Note

Funding Agency:

Örebro University

Available from: 2018-07-25 Created: 2018-07-25 Last updated: 2019-03-26Bibliographically approved
Tranebjærg, L., Strenzke, N., Lindholm, S., Rendtorff, N. D., Poulsen, H., Khandelia, H., . . . Bitner-Glindzicz, M. (2018). The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Human Genetics, 137(2), 111-127
Open this publication in new window or tab >>The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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2018 (English)In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 137, no 2, p. 111-127Article in journal (Refereed) Published
Abstract [en]

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN). All patients were clinically suspected of CAPOS and had hearing problems. In this retrospective analysis of audiological data, we show for the first time that cochlear outer hair cell activity was preserved as shown by the presence of otoacoustic emissions and cochlear microphonic potentials, but the auditory brainstem responses were grossly abnormal, likely reflecting neural dyssynchrony. Poor speech perception was observed, especially in noise, which was beyond the hearing level obtained in the pure tone audiograms in several of the patients presented here. Molecular modelling and in vitro electrophysiological studies of the specific CAPOS mutation were performed. Heterologous expression studies of α3 with the p.Glu818Lys mutation affects sodium binding to, and release from, the sodium-specific site in the pump, the third ion-binding site. Molecular dynamics simulations confirm that the structure of the C-terminal region is affected. In conclusion, we demonstrate for the first time evidence for auditory neuropathy in CAPOS syndrome, which may reflect impaired propagation of electrical impulses along the spiral ganglion neurons. This has implications for diagnosis and patient management. Auditory neuropathy is difficult to treat with conventional hearing aids, but preliminary improvement in speech perception in some patients suggests that cochlear implantation may be effective in CAPOS patients.

Place, publisher, year, edition, pages
Springer, 2018
National Category
Medical Genetics
Identifiers
urn:nbn:se:oru:diva-64038 (URN)10.1007/s00439-017-1862-z (DOI)000425104600001 ()29305691 (PubMedID)2-s2.0-85040046811 (Scopus ID)
Note

Funding Agency:

German Research Foundation through the Leibniz Program

Available from: 2018-01-12 Created: 2018-01-12 Last updated: 2018-02-28Bibliographically approved
Tranebjaerg, L., Strenzke, N., Lindholm, S., Rendtorff, N. D., Poulsen, H., Khandelia, H., . . . Bitner-Glindzicz, M. (2018). The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018). Human Genetics, 137(3), 279-280
Open this publication in new window or tab >>The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018)
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2018 (English)In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 137, no 3, p. 279-280Article in journal (Refereed) Published
Place, publisher, year, edition, pages
Springer, 2018
National Category
Medical Genetics
Identifiers
urn:nbn:se:oru:diva-66579 (URN)10.1007/s00439-018-1870-7 (DOI)000428560200008 ()29435658 (PubMedID)2-s2.0-85041914120 (Scopus ID)
Note

Funding Agency:

German Research Foundation through the Collaborative Research Center 889 

Available from: 2018-04-13 Created: 2018-04-13 Last updated: 2018-09-04Bibliographically approved
Tracewska-Siemiątkowska, A., Haer-Wigman, L., Bosch, D. G. M., Nickerson, D., Bamshad, M. J., van de Vorst, M., . . . Tranebjærg, L. (2017). An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes, 8(12), Article ID E381.
Open this publication in new window or tab >>An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
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2017 (English)In: Genes, ISSN 2073-4425, E-ISSN 2073-4425, Vol. 8, no 12, article id E381Article in journal (Refereed) Published
Abstract [en]

Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations in YARS underlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum of YARS-associated disorders.

Place, publisher, year, edition, pages
Basel, Switzerland: MDPI AG, 2017
Keywords
YARS, syndromic retinitis pigmentosa, whole exome sequencing
National Category
Medical Genetics
Identifiers
urn:nbn:se:oru:diva-63407 (URN)10.3390/genes8120381 (DOI)000419212400042 ()29232904 (PubMedID)2-s2.0-85038106245 (Scopus ID)
Note

Funding Agencies:

Stichting ODAS  2014-9 

Vereniging Bartimeus-Sonneheerdt  5781251 

Netherlands Organization for Scientific Research (TOP-grant)  91209047 

National Human Genome Research Institute  

National Heart, Lung and Blood Institute  HG006493 

Available from: 2017-12-19 Created: 2017-12-19 Last updated: 2018-08-13Bibliographically approved
Rönnåsen, B., Möller, K., Möller, C., Lyxell, B. & Anderzen-Carlsson, A. (2017). Aspects of learning in deafblindness: opportunities and limitations for persons with Alström syndrome. In: : . Paper presented at The 9th Dbl European Conference on Deafblindness, Aalborg, Denmark, September 5-8, 2017.
Open this publication in new window or tab >>Aspects of learning in deafblindness: opportunities and limitations for persons with Alström syndrome
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2017 (English)Conference paper, Poster (with or without abstract) (Refereed)
National Category
Learning
Identifiers
urn:nbn:se:oru:diva-67388 (URN)
Conference
The 9th Dbl European Conference on Deafblindness, Aalborg, Denmark, September 5-8, 2017
Available from: 2018-06-21 Created: 2018-06-21 Last updated: 2018-06-21Bibliographically approved
Tingaud-Sequeira, A., Raldúa, D., Lavie, J., Mathieu, G., Bordier, M., Knoll-Gellida, A., . . . Babin, P. (2017). Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. Neurobiology of Disease, 98, 36-51
Open this publication in new window or tab >>Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
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2017 (English)In: Neurobiology of Disease, ISSN 0969-9961, E-ISSN 1095-953X, Vol. 98, p. 36-51Article in journal (Refereed) Published
Abstract [en]

ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. Cell and zebrafish models were designed to demonstrate the causal link between an identified new missense mutation p.T253R, characterized in ABHD12 from a young patient, the previously characterized p.T202I and p.R352* mutations, and the associated PHARC. Measuring ABHD12 monoacylglycerol lipase activity in transfected HEK293 cells demonstrated inhibition with mutated isoforms. Both the expression pattern of zebrafish abhd12 and the phenotype of specific antisense morpholino oligonucleotide gene knockdown morphants were consistent with human PHARC hallmarks. High abhd12 transcript levels were found in the optic tectum and tract, colocalized with myelin basic protein, and in the spinal cord. Morphants have myelination defects and concomitant functional deficits, characterized by progressive ataxia and motor skill impairment. A disruption of retina architecture and retinotectal projections was observed, together with an inhibition of lens clarification and a low number of mechanosensory hair cells in the inner ear and lateral line system. The severe phenotypes in abhd12 knockdown morphants were rescued by introducing wild-type human ABHD12 mRNA, but not by mutation-harboring mRNAs. Zebrafish may provide a suitable vertebrate model for ABHD12 insufficiency and the study of functional impairment and potential therapeutic rescue of this rare, neurodegenerative disease.

Place, publisher, year, edition, pages
Elsevier, 2017
Keywords
Neurodegenerative disease, PHARC, ABHD1, Mutations, Cell and zebra fish models, Demyelinating polyneuropathy, Hearing loss, ataxia, retinitis pigmentosa
National Category
Medical Genetics Cell and Molecular Biology Neurology
Identifiers
urn:nbn:se:oru:diva-54703 (URN)10.1016/j.nbd.2016.11.008 (DOI)000394727300004 ()27890673 (PubMedID)2-s2.0-85001114593 (Scopus ID)
Note

Funding Agencies:

Agence Nationale de la Recherche (ANR)  2010BLAN112601/LIGENAX

Association Francaise contre les Myopathies (AFM)  14879/MNM2 2012

Conseil Regional d'Aquitaine (CRA)  2011-0151/LIGENAX

Pole de competitivite Prod'Innov

Association Strumpell-Lorrain (ASL)  2011-0135

Association Connaitre les syndromes cerebelleux (CSC)

French State in the frame of the "Investments for the future" Programme IdEx Bordeaux  ANR-10-IDEX-03-02

Lundbeck Foundation  32011

Widex AS

Linnaeus Centre for Research on Hearing and Deafness (HEAD): Excellence in the field of Cognitive Hearing Science  349-2007-8654

Available from: 2017-01-13 Created: 2017-01-13 Last updated: 2018-09-12Bibliographically approved
Widén, S., Båsjö, S., Möller, C. & Kähäri, K. (2017). Headphone listening habits and hearing thresholds in swedish adolescents. Noise & Health, 19(88), 125-132
Open this publication in new window or tab >>Headphone listening habits and hearing thresholds in swedish adolescents
2017 (English)In: Noise & Health, ISSN 1463-1741, E-ISSN 1998-4030, Vol. 19, no 88, p. 125-132Article in journal (Refereed) Published
Abstract [en]

Introduction: The aim of this study was to investigate self-reported hearing and portable music listening habits, measured hearing function and music exposure levels in Swedish adolescents. The study was divided into two parts.

Materials and Methods: The first part included 280 adolescents, who were 17 years of age and focused on self-reported data on subjective hearing problems and listening habits regarding portable music players. From this group, 50 adolescents volunteered to participate in Part II of the study, which focused on audiological measurements and measured listening volume.

Results: The results indicated that longer lifetime exposure in years and increased listening frequency were associated with poorer hearing thresholds and more self-reported hearing problems. A tendency was found for listening to louder volumes and poorer hearing thresholds. Women reported more subjective hearing problems compared with men but exhibited better hearing thresholds. In contrast, men reported more use of personal music devices, and they listen at higher volumes.

Discussion: Additionally, the study shows that adolescents listening for ≥3 h at every occasion more likely had tinnitus. Those listening at ≥85 dB LAeq, FF and listening every day exhibited poorer mean hearing thresholds, reported more subjective hearing problems and listened more frequently in school and while sleeping.

Conclusion: Although the vast majority listened at moderate sound levels and for shorter periods of time, the study also indicates that there is a subgroup (10%) that listens between 90 and 100 dB for longer periods of time, even during sleep. This group might be at risk for developing future noise-induced hearing impairments.

Place, publisher, year, edition, pages
Medknow Publications, 2017
Keywords
Adolescents, headphones, hearing symptoms, hearing thresholds, listening habits, portable music listening devices
National Category
Otorhinolaryngology
Research subject
Disability Science
Identifiers
urn:nbn:se:oru:diva-58061 (URN)10.4103/nah.NAH_65_16 (DOI)000404120500002 ()28615542 (PubMedID)2-s2.0-85021194011 (Scopus ID)
Available from: 2017-06-15 Created: 2017-06-15 Last updated: 2017-10-10Bibliographically approved
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ORCID iD: ORCID iD iconorcid.org/0000-0001-6557-6359

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