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Castiglione, A. & Möller, C. (2022). Usher Syndrome. Audiology Research, 12(1), 42-65
Open this publication in new window or tab >>Usher Syndrome
2022 (English)In: Audiology Research, ISSN 2039-4330, E-ISSN 2039-4349, Vol. 12, no 1, p. 42-65Article, review/survey (Refereed) Published
Abstract [en]

Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH.

Place, publisher, year, edition, pages
MDPI, 2022
Keywords
Usher syndrome, genetic hearing loss, ciliopathies, Ushers syndrom, genetisk hörselnedsättning, ciliopatier
National Category
Otorhinolaryngology
Research subject
Genetics; Medical Genetics; Oto-Rhino-Laryngology
Identifiers
urn:nbn:se:oru:diva-96682 (URN)10.3390/audiolres12010005 (DOI)000865865200001 ()35076463 (PubMedID)2-s2.0-85127372949 (Scopus ID)
Available from: 2022-01-25 Created: 2022-01-25 Last updated: 2022-10-21
Lindberg, E., Möller, C., Kere, J., Wedenoja, S. & Anderzen-Carlsson, A. (2020). Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes. BMC Medical Genetics, 21(1), Article ID 79.
Open this publication in new window or tab >>Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes
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2020 (English)In: BMC Medical Genetics, E-ISSN 1471-2350, Vol. 21, no 1, article id 79Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 274600), which is the most frequent form of syndromic deafness.

CASE PRESENTATION: We report an unusual co-occurrence of two rare homozygous mutations in both the SLC26A3 and SLC26A4 genes, causing a rare combination of both CLD and PDS in two siblings. Although the clinical pictures were typical, the combined loss of these anion transporters might modulate the risk of renal injury associated with CLD.

CONCLUSIONS: Familial presentation of two rare autosomal recessive disorders with loss of function of different SLC26 anion transporters is described. Independent homozygous variants in the SLC26A3 and SLC26A4 genes cause CLD and PDS in siblings, shedding light on co-occurrence of rare recessive traits in the progeny of consanguineous couples.

Place, publisher, year, edition, pages
BioMed Central, 2020
Keywords
Case report, Congenital chloride diarrhea, Deafness, Neonatal diarrhea, Pendred syndrome
National Category
Medical Genetics
Identifiers
urn:nbn:se:oru:diva-81344 (URN)10.1186/s12881-020-01023-z (DOI)000528726000005 ()32295532 (PubMedID)2-s2.0-85083477744 (Scopus ID)
Available from: 2020-05-08 Created: 2020-05-08 Last updated: 2024-01-17Bibliographically approved
Wahlqvist, M., Möller, C., Möller, K. & Danermark, B. (2020). Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective. Frontiers in Psychology, 11, Article ID 1760.
Open this publication in new window or tab >>Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective
2020 (English)In: Frontiers in Psychology, E-ISSN 1664-1078, Vol. 11, article id 1760Article in journal (Refereed) Published
Abstract [en]

Purpose: The primary aim was to describe the similarities and differences among the general health, physical health, psychological health, social trust, and financial situations of people with Usher syndrome (USH) types 1, 2, and 3. A second aim was to explore whether age, gender, clinical diagnosis, visual field, visual acuity, and degree of hearing impairment were associated with the general health, physical health, psychological health, social trust, and financial situations of people with USH.

Methods: In this study, 162 people with USH living in Sweden were included, and all three types of the disease were represented. Data concerning vision, hearing, and genetics were retrieved from the Swedish Usher database. Group comparison using frequencies, chi(2)-tests and Kruskal-Wallis tests for group comparison were used. To examine the effect of independent variables on poor health outcomes, a logistic regression analysis was conducted.

Results: Problems with poor health, social trust, and finances were found for all three types; however, more similarities than differences were found. The results of the regression model were ambiguous; it is not clear which independent measures contributed the most to poor outcomes. People with USH3 tended to report the most problems regarding the dependent outcome measures.

Conclusion: The observations of the associations between the independent variables and poor health, social trust and finances made in the present study are important to bear in mind in a rehabilitation setting; however, they do not fully explain how people with USH actually feel or rate their health. More research is needed to confirm the knowledge that exists within the clinical setting and the life stories told by the people with USH to merge existing knowledge into a rehabilitation setting based on evidence.

Place, publisher, year, edition, pages
Frontiers, 2020
Keywords
Usher syndrome, bio-psychosocial perspective, deafblindness, financial situation, health, physical health, psychological health, social trust
National Category
Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
urn:nbn:se:oru:diva-86090 (URN)10.3389/fpsyg.2020.01760 (DOI)000570545200001 ()32982818 (PubMedID)2-s2.0-85090837752 (Scopus ID)
Funder
Swedish Research Council
Note

Funding Agencies:

Stiftelsen MoGard forskningsfond (MoGard Research fund)  

Region Örebro län (Örebro Region County)  

Available from: 2020-09-30 Created: 2020-09-30 Last updated: 2022-02-10Bibliographically approved
Ehn, M., Wahlqvist, M., Möller, C. & Anderzen-Carlsson, A. (2020). The lived experiences of work and health of people living with deaf-blindness due to Usher syndrome type 2. International Journal of Qualitative Studies on Health and Well-being, 15(1), Article ID 1846671.
Open this publication in new window or tab >>The lived experiences of work and health of people living with deaf-blindness due to Usher syndrome type 2
2020 (English)In: International Journal of Qualitative Studies on Health and Well-being, ISSN 1748-2623, E-ISSN 1748-2631, Vol. 15, no 1, article id 1846671Article in journal (Refereed) Published
Abstract [en]

Purpose: This study aimed to explore lived experiences with working life from the perspective of people with deafblindness due to Usher syndrome type 2 (USH2).

Background: A limited number of studies have explored working life of people with Usher syndrome. One study of individuals with USH2 showed that work active reported significantly better psychological health compared to non-working individuals.

Methods: Seven participants aged 38-50 years with USH2 participated in interviews analysed by interpretative phenomenological analysis.

Results: The analyses yielded four themes showing that work is a source of satisfaction and a commitment that needs to be balanced. It is also associated with facing limitations and feelings of uncertainty.

Conclusion: Based on the psychology of work model we have demonstrated that work is associated with social connectedness, self-determination and a source of improved health outcomes. There are however also potential health hazards in people with USH2, indicating a need for balance between individual needs and resources, and an adapted environment, for maintaining or regaining health for actively working people with USH2.

Place, publisher, year, edition, pages
Co-Action Publishing, 2020
Keywords
Deafblindness, Usher syndrome type 2, interpretative phenomenological analysis, qualitative study, work
National Category
Occupational Therapy
Identifiers
urn:nbn:se:oru:diva-87956 (URN)10.1080/17482631.2020.1846671 (DOI)000596816700001 ()33287675 (PubMedID)2-s2.0-85097367366 (Scopus ID)
Funder
Swedish Research Council
Note

Funding Agency:

Swedish Institute for Disability Research, Örebro University  

Available from: 2020-12-09 Created: 2020-12-09 Last updated: 2022-08-26Bibliographically approved
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: 2022-08-26Bibliographically 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)2-s2.0-85046011531 (Scopus ID)
Available from: 2018-05-24 Created: 2018-05-24 Last updated: 2023-12-08Bibliographically 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: 2022-08-26Bibliographically 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
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