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Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease

2025-09-26Journal article Restricted access
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datacite.subject.fosCiências Médicas::Ciências da Saúde
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorMota, Joana Paz
dc.contributor.authorRodrigues, Inês Tello
dc.contributor.authorRodrigues, Inês Tello
dc.contributor.authorFerreira, Ana Filipa
dc.contributor.authorMelo, Ana Rosa Vieira
dc.contributor.authorPires, Paula
dc.contributor.authorLopes, Pedro
dc.contributor.authorVasconcelos, João
dc.contributor.authorRaposo, Mafalda
dc.contributor.authorLima, Manuela
dc.date.accessioned2025-10-17T09:29:29Z
dc.date.available2025-10-17T09:29:29Z
dc.date.issued2025-09-26
dc.descriptionArticle number - 158
dc.descriptionThe authors thank the SCA3/MJD carriers who participated in the study.
dc.description.abstractDysphagia is a frequent symptom of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD), being associated with alterations in nutritional intake and hydration, as well as an increased risk of aspiration pneumonia. This study aims to evaluate the impact of self-perceived dysphagia and its relationship with quality of life in SCA3/MJD mutation carriers. 41 SCA3/MJD mutation carriers from the Azorean cohort were recruited. The Swallowing Quality-of-Life Questionnaire (SWAL-QOL), the Eating Assessment Tool (EAT-10), the Functional Oral Intake Scale (FOIS), the Volume-Viscosity Swallow Test (V-VST), the Scale for the Assessment and Rating of Ataxia (SARA), the Inventory of Non-Ataxia Signs (INAS), and the Activities of Daily Living (ADL) were applied. Dysphagia was confirmed in 40% SCA3/MJD patients, whose SWAL-QOL was significantly decreased when compared to participants without dysphagia (p = 0.001). As expected, SCA3/MJD carriers with worse SWAL-QOL showed a high risk of dysphagia (p < 0.01), a worse functional oral intake of food and liquids (p < 0.01) and more severe ataxia (p < 0.01). Additionally, high severity of dysphagia reported on the INAS scale, (p < 0.01) and high frequency of swallowing disorders, perceived by SCA3/MJD carriers (p < 0.01) were observed in SCA3/MJD carriers with worse SWAL-QOL. Our findings confirm that dysphagia negatively impacts the quality of life of SCA3/MJD carriers, highlighting the need for permanent support by specialized healthcare professionals during disease progression. Additionally, we recommend that SCA3/MJD carriers with a score of 1 or higher on both the INAS dysphagia item and the ADL swallowing item be referred for specialized healthcare support in swallowing disorders.eng
dc.description.sponsorshipDisclosures This work is an outcome of ESMI, an EU Joint Programme - Neurodegenerative Disease Research (JPND) project. The ESMI project was supported through the following funding organisations under the aegis of JPND: Germany, Federal Ministry of Education and Research (BMBF; funding codes 01ED1602A/B); Netherlands, The Netherlands Organisation for Health Research and Development; Portugal, Fundação para a Ciência e a Tecnologia (FCT; funding codes JPCOFUND/0002/2015); United Kingdom, Medical Research Council. The Fundo Regional para a Ciência e Tecnologia (FRCT, Governo Regional dos Açores) has supported ESMI in Azores, under the PRO-SCIENTIA program. MR is supported by Fundação para a Ciência e a Tecnologia (https://doi.org/10.54499/CEECIND/03018/2018/CP1556/CT0009). Approval was obtained from the ethicscommittee of University of the Azores, Hospital do Divino Espírito Santo and Hospital do Santo Espírito da Ilha Terceira. The procedures used in this study adhere to the tenets of the Declaration of Helsinki. All participants signed the informed consent form on paper which was treated in is codified form.
dc.identifier.citationMota, J.P., Rodrigues, I.T., Ferreira, A.F. et al. Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease. Cerebellum 24, 158 (2025). https://doi.org/10.1007/s12311-025-01911-1
dc.identifier.doi10.1007/s12311-025-01911-1
dc.identifier.eissn1473-4230
dc.identifier.urihttp://hdl.handle.net/10400.8/14295
dc.language.isoeng
dc.peerreviewedyes
dc.publisherSpringer Nature
dc.relationEuropean Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
dc.relationHOME-, CLINIC- AND LAB-BASED QUANTITATIVE MEASURES TO CAPTURE AND TRACK THE PRECLINICAL STAGE OF MACHADO-JOSEPH DISEASE/SPINOCEREBELLAR ATAXIA TYPE 3
dc.relation.hasversionhttps://link.springer.com/article/10.1007/s12311-025-01911-1
dc.relation.ispartofThe Cerebellum
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectAtaxin-3
dc.subjectDeglutition disorders
dc.subjectMachado-Joseph disease
dc.subjectQuality of life
dc.subjectSpinocerebellar ataxia type 3
dc.titleArticle Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Diseaseeng
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleEuropean Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
oaire.awardTitleHOME-, CLINIC- AND LAB-BASED QUANTITATIVE MEASURES TO CAPTURE AND TRACK THE PRECLINICAL STAGE OF MACHADO-JOSEPH DISEASE/SPINOCEREBELLAR ATAXIA TYPE 3
oaire.awardURIhttp://hdl.handle.net/10400.8/14293
oaire.awardURIhttp://hdl.handle.net/10400.8/14294
oaire.citation.issue6
oaire.citation.titleThe Cerebellum
oaire.citation.volume24
oaire.fundingStreamEuropean research projects on neurodegenerative diseases: risk and protective factors, longitudinal cohort approaches and advanced experimental models
oaire.fundingStreamCEEC IND 2018
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameR. M. Rodrigues
person.givenNameInês
person.identifier.ciencia-id3B17-00D5-0D54
person.identifier.orcid0000-0001-9953-8529
person.identifier.scopus-author-id56173937900
relation.isAuthorOfPublication93909cc0-c13e-4d22-b3a5-9be3feb7af24
relation.isAuthorOfPublication.latestForDiscovery93909cc0-c13e-4d22-b3a5-9be3feb7af24
relation.isProjectOfPublication70460084-b81e-48ea-be9f-70b416f65c98
relation.isProjectOfPublicationa260fa24-5edb-4e26-987a-2e54a7d7ae0a
relation.isProjectOfPublication.latestForDiscovery70460084-b81e-48ea-be9f-70b416f65c98

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