{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"Research Square"}],"indexed":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T17:40:33Z","timestamp":1725298833237},"posted":{"date-parts":[[2024,5,23]]},"group-title":"In Review","reference-count":26,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,4,23]]},"abstract":"<title>Abstract<\/title>\n        <p>This study describes the experiences with stigma attached to Machado-Joseph disease (MJD) in S\u00e3o Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals and direct care providers, recruited through the local patient\u2019s association (n\u2009=\u200928). Qualitative thematic analysis revealed three main themes: i) intense stigma in the past; ii) current tendency towards increased openness; and ii) increased availability of information about MJD and support. The findings suggest that stigmatization was more frequent and intense in the past, but there is currently a decrease in the intensity of perceived stigma accompanied by an increasing awareness about MJD within the community. The local patient\u2019s association is described as playing a key role in raising awareness about MJD in the community, as well as fostering increased confidence among people with MJD and their families to engage socially, which may help decrease or mitigate feelings of stigma. This raises questions into whether the diminished stigma towards MJD in S\u00e3o Miguel stems from heightened awareness about the condition, a decrease in the socially acceptability of stigma, or a gradual internalization and normalization of stigma among individuals with MJD as a coping mechanism.<\/p>","DOI":"10.21203\/rs.3.rs-4313708\/v1","type":"posted-content","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T03:29:45Z","timestamp":1716434985000},"source":"Crossref","is-referenced-by-count":0,"title":["From stigma to increased social acceptance? Living with Machado-Joseph disease in S\u00e3o Miguel, Azores, Portugal"],"prefix":"10.21203","author":[{"given":"Daniela","family":"Couto","sequence":"first","affiliation":[{"name":"CINTESIS@RISE, University of Aveiro"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"CGPP \u2013 Centre for Predictive and Preventive Genetics, University of Porto"}]},{"given":"Manuela","family":"Lima","sequence":"additional","affiliation":[{"name":"UMIB \u2013 Unit for Multidisciplinary Research in Biomedicine, University of Porto"}]},{"given":"Liliana","family":"Sousa","sequence":"additional","affiliation":[{"name":"CINTESIS@RISE, University of Aveiro"}]},{"given":"\u00c1lvaro","family":"Mendes","sequence":"additional","affiliation":[{"name":"CGPP \u2013 Centre for Predictive and Preventive Genetics, University of Porto"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/1750-1172-6-35","article-title":"Machado-Joseph Disease: from first descriptions to new perspectives","volume":"6","author":"Bettencourt C","year":"2011","unstructured":"Bettencourt C, Lima M (2011) Machado-Joseph Disease: from first descriptions to new perspectives. Orphanet J Rare Dis 6:35. https:\/\/doi.org\/10.1186\/1750-1172-6-35","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"ref2","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0277-9536(87)90048-7","article-title":"The stumbling disease: A case study of stigma among azorean-Portuguese","volume":"24","author":"Boutt\u00e9 M","year":"1987","unstructured":"Boutt\u00e9 M (1987) The stumbling disease: A case study of stigma among azorean-Portuguese. Soc Sci Med 24(3):209\u2013217","journal-title":"Soc Sci Med"},{"issue":"8","key":"ref3","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/0277-9536(90)90211-A","article-title":"Waiting for the family legacy: The experience of being at risk for Machado-Joseph disease","volume":"30","author":"Boutt\u00e9 M","year":"1990","unstructured":"Boutt\u00e9 M (1990) Waiting for the family legacy: The experience of being at risk for Machado-Joseph disease. Soc Sci Med 30(8):839\u2013847","journal-title":"Soc Sci Med"},{"issue":"2","key":"ref4","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1191\/1478088706qp063oa","article-title":"Using thematic analysis in psychology","volume":"3","author":"Braun V","year":"2006","unstructured":"Braun V, Clarke V (2006) Using thematic analysis in psychology. Qual Res Psychol 3(2):77\u2013101. https:\/\/doi.org\/10.1191\/1478088706qp063oa","journal-title":"Qual Res Psychol"},{"issue":"7","key":"ref5","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1212\/WNL.28.7.703","article-title":"Autosomal dominant system degeneration in Portuguese families of the Azores Islands: A new genetic disorder involving cerebellar, pyramidal, extrapyramidal, and spinal cord motor functions","volume":"28","author":"Coutinho P","year":"1978","unstructured":"Coutinho P, Andrade C (1978) Autosomal dominant system degeneration in Portuguese families of the Azores Islands: A new genetic disorder involving cerebellar, pyramidal, extrapyramidal, and spinal cord motor functions. Neurology 28(7):703\u2013709. https:\/\/doi.org\/10.1212\/WNL.28.7.703","journal-title":"Neurology"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1001\/jamaneurol.2013.1707","article-title":"Hereditary ataxia and spastic paraplegia in Portugal: A population-based prevalence study","volume":"70","author":"Coutinho P","year":"2013","unstructured":"Coutinho P, Ruano L, Loureiro J et al (2013) Hereditary ataxia and spastic paraplegia in Portugal: A population-based prevalence study. 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J Community Genet 13:459\u2013461. https:\/\/doi.org\/10.1007\/s12687-022-00602-2","journal-title":"J Community Genet"},{"issue":"1","key":"ref8","first-page":"1001","article-title":"Trends in the epidemiology of spinocerebellar ataxia type 3\/Machado-Joseph disease in the Azores Islands, Portugal","volume":"1","author":"Ara\u00fajo M","year":"2016","unstructured":"de Ara\u00fajo M, Raposo M, Kazachkova N, Vasconcelos J, Kay T, Lima M (2016) Trends in the epidemiology of spinocerebellar ataxia type 3\/Machado-Joseph disease in the Azores Islands, Portugal. JSM Brain Sci 1(1):1001. https:\/\/www.jscimedcentral.com\/BrainScience\/brainscience-1-1001.pdf","journal-title":"JSM Brain Sci"},{"issue":"5","key":"ref9","doi-asserted-by":"publisher","first-page":"e162246","DOI":"10.1172\/JCI162246","article-title":"Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3","volume":"134","author":"Duarte-Silva S","year":"2024","unstructured":"Duarte-Silva S, Da Silva JD, Monteiro-Fernandes D, Costa MD, Neves-Carvalho A et al (2024) Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3. J Clin Invest 134(5):e162246. https:\/\/doi.org\/10.1172\/JCI162246","journal-title":"J Clin Invest"},{"issue":"4","key":"ref10","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1159\/000082262","article-title":"Short-term psychological impact of predictive testing for Machado-Joseph disease: Depression and anxiety levels in individuals at risk from the Azores (Portugal)","volume":"7","author":"Gonzalez C","year":"2004","unstructured":"Gonzalez C, Lima M, Kay T, Silva C, Santos C, Santos J (2004) Short-term psychological impact of predictive testing for Machado-Joseph disease: Depression and anxiety levels in individuals at risk from the Azores (Portugal). 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Neurol 30(3):319\u2013322. https:\/\/doi.org\/10.1212\/wnl.30.3.319","journal-title":"Neurol"},{"issue":"2","key":"ref13","doi-asserted-by":"publisher","first-page":"247","DOI":"10.3390\/biomedicines11020247","article-title":"The homogeneous Azorean Machado-Joseph disease cohort: Characterization and contributions to advances in research","volume":"11","author":"Lima M","year":"2023","unstructured":"Lima M, Raposo M, Ferreira A, Melo ARV, Pav\u00e3o S, Medeiros F et al (2023) The homogeneous Azorean Machado-Joseph disease cohort: Characterization and contributions to advances in research. 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Arch Neurol 58(11):1821\u20131827. https:\/\/doi.org\/10.1001\/archneur.58.11.1821","journal-title":"Arch Neurol"},{"issue":"1","key":"ref15","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1111\/jnc.14541","article-title":"Machado-Joseph disease\/spinocerebellar ataxia type 3: Lessons from disease pathogenesis and clues into therapy","volume":"148","author":"Matos CA","year":"2019","unstructured":"Matos CA, de Almeida LP, N\u00f3brega C (2019) Machado-Joseph disease\/spinocerebellar ataxia type 3: Lessons from disease pathogenesis and clues into therapy. 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Cad Sa\u00fade Pub 33(5):e00185515. https:\/\/doi.org\/10.1590\/0102-311x00185515","journal-title":"Cad Sa\u00fade Pub"},{"key":"ref19","first-page":"190","article-title":"Living with Machado-Joseph disease in a small rural community of the Tagus Valley","volume":"2","author":"Pa\u00fal C","year":"1999","unstructured":"Pa\u00fal C, Mart\u00edn I, do Ros\u00e1rio Silva M, Silva M, Coutinho P, Sequeiros J (1999) Living with Machado-Joseph disease in a small rural community of the Tagus Valley. Community Genet 2:190\u2013195. https:\/\/pubmed.ncbi.nlm.nih.gov\/14960841\/","journal-title":"Community Genet"},{"key":"ref20","first-page":"123","volume-title":"O teste preditivo da doen\u00e7a de Machado-Joseph","author":"Sequeiros J","year":"1996","unstructured":"Sequeiros J (1996) Protocolo geral do programa nacional de teste preditivo e aconselhamento gen\u00e9tico na doen\u00e7a de Machado-Joseph. In: Sequeiros J (ed) O teste preditivo da doen\u00e7a de Machado-Joseph. UnIGENe-IBMC, Porto, pp 123\u2013149"},{"key":"ref21","first-page":"227","volume-title":"Ataxic Disorders. Handbook of clinical neurology 103","author":"Sequeiros J","year":"2012","unstructured":"Sequeiros J, Martins S, Silveira I (2012) Epidemiology and population genetics of degenerative ataxias. In: Subramony SH, Durr A (eds) Ataxic Disorders. Handbook of clinical neurology 103. Elsevier, Edinburgh, pp 227\u2013251"},{"year":"2016","author":"Soares D","key":"ref22","unstructured":"Soares D (2016) Dilemmas and tensions between actors linked to the worlds of Machado-Joseph disease: Contrasts and affinities in the public (in)visibility of the patient condition. PhD thesis, Universidade Nova de Lisboa"},{"issue":"4","key":"ref23","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1080\/02650533.2012.668878","article-title":"The collaborative professional: Towards empowering vulnerable families","volume":"26","author":"Sousa L","year":"2012","unstructured":"Sousa L, Rodrigues S (2012) The collaborative professional: Towards empowering vulnerable families. J Soc Work Pract 26(4):411\u2013425. https:\/\/doi.org\/10.1080\/02650533.2012.668878","journal-title":"J Soc Work Pract"},{"issue":"1","key":"ref24","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1002\/casp.875","article-title":"Are practitioners incorporating the strengths-focused approach when working with multi-problem poor families?","volume":"17","author":"Sousa L","year":"2007","unstructured":"Sousa L, Ribeiro C, Rodrigues S (2007) Are practitioners incorporating the strengths-focused approach when working with multi-problem poor families? 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