{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:33:47Z","timestamp":1772120027545,"version":"3.50.1"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T00:00:00Z","timestamp":1740700800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T00:00:00Z","timestamp":1740700800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["CEECIND\/02615\/2017"],"award-info":[{"award-number":["CEECIND\/02615\/2017"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005727","name":"Universidade de Coimbra","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005727","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Stigma is defined as the perception of an undesirable attribute that leads to discrimination against individuals and groups. Stigmatisation is often triggered due to visible physical or cognitive differences. Although the literature consistently highlights the (fear of) stigmatisation as a significant concern among individuals living with hereditary conditions, no studies in Portugal have specifically provided evidence on this issue. This study aims to address this gap by examining the experiences and impact of stigma on individuals and families affected by hereditary diseases in Portugal. After receiving ethics approval, a total of 216 participants, including affected individuals, asymptomatic carriers and family members from families with a range of hereditary conditions, were recruited through patient support associations. Participants completed an online questionnaire via Limesurvey. Data were analysed through Exploratory Factor Analysis (EFA), median comparison tests, and thematic analysis. Of the participants, 78.7% were women, 55.6% had a university degree, and 20.4% were aged between 42 and 47 years. Findings indicate that stigma impacts individuals across various domains, including social interactions, institutional settings, the workplace, and healthcare. EFA identified a bi-factorial model of stigma, comprising Stigma Experiences and Perceived Support subscales, and the overall scale demonstrated high internal consistency (\u03b1\u2009=\u2009.879). Women and younger participants reported higher levels of stigma. Religiosity and humor emerged as key coping strategies. This study is the first in Portugal to assess stigma among individuals living with hereditary conditions. Our findings contributed to validating a measurement instrument, identified sociodemographic variations, and examined the psychosocial dimensions of stigma among affected patients. These findings highlight the need for comprehensive strategies to address and mitigate stigma, improve support systems, and enhance the well-being and healthcare experiences of individuals and families impacted by hereditary diseases.<\/jats:p>","DOI":"10.1007\/s12687-025-00782-7","type":"journal-article","created":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T21:19:46Z","timestamp":1740691186000},"page":"861-872","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Experiences of stigmatization and its impacts among individuals living with hereditary diseases and family members in Portugal: an exploratory study"],"prefix":"10.1007","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-6993-8720","authenticated-orcid":false,"given":"Joana","family":"Valentim","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6535-4315","authenticated-orcid":false,"given":"Milena","family":"Paneque","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8766-7646","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Mendes","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2025,2,28]]},"reference":[{"issue":"14","key":"782_CR1","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1177\/1359105317714643","volume":"24","author":"R Anderson","year":"2019","unstructured":"Anderson R, Walburn J, Morgan M (2019) Experiences of stigma over the lifetime of people with xeroderma pigmentosum: A qualitative interview study in the United Kingdom. J Health Psychol 24(14):2031\u20132041. https:\/\/doi.org\/10.1177\/1359105317714643","journal-title":"J Health Psychol"},{"issue":"689","key":"782_CR2","doi-asserted-by":"publisher","first-page":"75","DOI":"10.4081\/jphr.2016.689","volume":"5","author":"D Ayode","year":"2016","unstructured":"Ayode D, Tora A, Farrell D, Tadele G, Davey G, Mcbride CM (2016) Dual perspectives on stigma: Reports of experienced and enacted stigma by those affected and unaffected by podoconiosis. J Public Health Res 5(689):75\u201380. https:\/\/doi.org\/10.4081\/jphr.2016.689","journal-title":"J Public Health Res"},{"key":"782_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fgene.2024.1335768","volume":"15","author":"G Baynam","year":"2024","unstructured":"Baynam G, Gomez R, Jain R (2024) Stigma associated with genetic testing for rare diseases \u2014 Causes and recommendations. Front Genet 15:1\u20139. https:\/\/doi.org\/10.3389\/fgene.2024.1335768","journal-title":"Front Genet"},{"issue":"2","key":"782_CR4","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1080\/10245332.2017.1359898","volume":"23","author":"A Blake","year":"2018","unstructured":"Blake A, Asnani V, Leger RR, Harris J, Odesina V, Hemmings DL, Morris DA, Knight-Madden J, Wagner L, Asnani MR (2018) Stigma and illness uncertainty: Adding to the burden of Sickle Cell Disease. Hematology 23(2):122\u2013130. https:\/\/doi.org\/10.1080\/10245332.2017.1359898","journal-title":"Hematology"},{"issue":"1","key":"782_CR5","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1186\/s13023-017-0730-1","volume":"12","author":"KR Bogart","year":"2017","unstructured":"Bogart KR, Irvin VL (2017) Health-related quality of life among adults with diverse rare disorders. Orphanet J Rare Dis 12(1):177. https:\/\/doi.org\/10.1186\/s13023-017-0730-1","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"782_CR6","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1037\/rep0000311","volume":"65","author":"NR Boileau","year":"2020","unstructured":"Boileau NR, Paulsen JS, Ready RE, Hahn EA, Lai JS, Carlozzi NE (2020) Understanding domains that influence perceived stigma in individuals with Huntington disease. Rehabil Psychol 65(2):113\u2013121. https:\/\/doi.org\/10.1037\/rep0000311","journal-title":"Rehabil Psychol"},{"issue":"3","key":"782_CR7","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1111\/j.1399-0004.2007.00770.x","volume":"71","author":"Y Bombard","year":"2007","unstructured":"Bombard Y, Penziner B, Decolongon J, Klimek MLN, Creighton S, Suchowersky O, Guttman M, Paulsen JS, Bottorff JL, Hayden MR (2007) Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation. Clin Genet 71(3):220\u2013231. https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00770.x","journal-title":"Clin Genet"},{"issue":"5","key":"782_CR8","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1007\/s10897-018-0218-8","volume":"27","author":"C Bonner","year":"2018","unstructured":"Bonner C, Spinks C, Semsarian C, Barratt A, Ingles J, McCaffery K (2018) Psychosocial impact of a positive gene result for asymptomatic relatives at risk of Hypertrophic Cardiomyopathy. J Genet Couns 27(5):1040\u20131048. https:\/\/doi.org\/10.1007\/s10897-018-0218-8","journal-title":"J Genet Couns"},{"key":"782_CR9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fpsyg.2019.01780","volume":"10","author":"P Cardinali","year":"2019","unstructured":"Cardinali P, Migliorini L, Rania N (2019) The caregiving experiences of fathers and mothers of children with rare diseases in Italy: Challenges and social support perceptions. Front Psychol 10:1\u201314. https:\/\/doi.org\/10.3389\/fpsyg.2019.01780","journal-title":"Front Psychol"},{"issue":"1","key":"782_CR10","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1093\/sw\/52.1.31","volume":"52","author":"PW Corrigan","year":"2007","unstructured":"Corrigan PW (2007) How clinical diagnosis might exacerbate the stigma of mental illness. Soc Work 52(1):31\u201339. https:\/\/doi.org\/10.1093\/sw\/52.1.31","journal-title":"Soc Work"},{"key":"782_CR11","unstructured":"Di\u00e1rio da Rep\u00fablica (2015) Di\u00e1rio da Rep\u00fablica n.o 41\/2015, 2\u00b0 Suplemento, S\u00e9rie II de 2015\u201302\u201327. Despacho n.o 2129-B\/2015"},{"issue":"5","key":"782_CR12","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1002\/ajmg.b.31079","volume":"153","author":"C Erwin","year":"2010","unstructured":"Erwin C, Williams JK, Juhl AR, Mengeling M, Mills JA, Bombard Y, Hayden MR, Quaid K, Shoulson I, Taylor S, Paulsen JS, Adams W, Elbert M, Chiu E, Goh A, Yastrubetskaya O, Agarwal A, Rosenblatt A, Welsh C, Marder K, Wasserman P, Moskowitz C, Decolongon J, Raymond LA, Lipe H, Samii A, Williams P, Aylward E, Harrison JM, Jones R, Wood-Siverio C, Wesson M, Biglan K, Chesire A, Como P, Giambattista C, Guttman M, Sheinberg A, Singer A, Griffith J, McCusker E, Richardson K, Tempkin T, Wheelock VL, Johnson A, Linderholm W, Perlman S, Geschwind MD, Gooblar J, Guzijan M, Chua P, Komiti A, Panegyres P, Vuletich E, Woodman M (2010) Perception, experience, and response to genetic discrimination in Huntington disease: The international RESPOND-HD study. Am J Med Genet B Neuropsychiatr Genet 153(5):1081\u20131093. https:\/\/doi.org\/10.1002\/ajmg.b.31079","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"1\u20132","key":"782_CR13","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1080\/14780880701473417","volume":"4","author":"H Etchegary","year":"2007","unstructured":"Etchegary H (2007) Stigma and genetic risk: Perceptions of stigma among those at risk for Huntington disease (HD). Qual Res Psychol 4(1\u20132):65\u201384. https:\/\/doi.org\/10.1080\/14780880701473417","journal-title":"Qual Res Psychol"},{"key":"782_CR14","doi-asserted-by":"publisher","first-page":"112619","DOI":"10.1016\/j.socscimed.2019.112619","volume":"243","author":"MC Faure","year":"2019","unstructured":"Faure MC, Matshabane OP, Marshall P, Appelbaum PS, Stein DJ, Engel ME, de Vries J (2019) Does genetics matter for disease-related stigma? The impact of genetic attribution on stigma associated with rheumatic heart disease in the Western Cape, South Africa. Soc Sci Med 243:112619. https:\/\/doi.org\/10.1016\/j.socscimed.2019.112619","journal-title":"Soc Sci Med"},{"key":"782_CR15","unstructured":"Field AP (2009) Discovering statistics using SPSS (and sex and drugs and rock 'n 'roll), 3rd edn. SAGE Publications"},{"issue":"3","key":"782_CR16","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1007\/s10897-016-0033-z","volume":"26","author":"L Geerts","year":"2017","unstructured":"Geerts L, Fantini-Hauwel C, Brugall\u00e9 E, Boute O, Fr\u00e9nois F, Defrance L, Manouvrier-Hanu S, Petit F, Antoine P (2017) The subjective experience of patients diagnosed with hereditary hemorrhagic telangiectasia: A qualitative study. J Genet Couns 26(3):612\u2013619. https:\/\/doi.org\/10.1007\/s10897-016-0033-z","journal-title":"J Genet Couns"},{"key":"782_CR17","volume-title":"Stigma: Notes on the management of spoiled identity","author":"E Goffman","year":"1963","unstructured":"Goffman E (1963) Stigma: Notes on the management of spoiled identity. Prentice-Hall Inc, Englewood Cliffs"},{"issue":"2","key":"782_CR18","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1177\/1054773818780102","volume":"29","author":"J Granero-Molina","year":"2020","unstructured":"Granero-Molina J, S\u00e1nchez-Hern\u00e1ndez F, Fern\u00e1ndez-Sola C, del Jim\u00e9nez-Lasserrotte M, M, Antequera-Raynal LH, Hern\u00e1ndez-Padilla JM, (2020) The diagnosis of hereditary angioedema: Family caregivers\u2019 experiences. Clin Nurs Res 29(2):117\u2013126. https:\/\/doi.org\/10.1177\/1054773818780102","journal-title":"Clin Nurs Res"},{"issue":"1","key":"782_CR19","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1111\/1467-6427.12424","volume":"45","author":"S Guerra","year":"2023","unstructured":"Guerra S, Oliveira C, Seidi C, Sousa L, Mendes \u00c1 (2023) Multifamily interventions in the context of inherited genetic conditions: A scoping review. J Fam Ther 45(1):118\u2013134. https:\/\/doi.org\/10.1111\/1467-6427.12424","journal-title":"J Fam Ther"},{"issue":"1","key":"782_CR20","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s12687-015-0254-0","volume":"7","author":"LA Higa","year":"2016","unstructured":"Higa LA, McDonald J, Himes DO, Rothwell E (2016) Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: A qualitative analysis. J Community Genet 7(1):81\u201389. https:\/\/doi.org\/10.1007\/s12687-015-0254-0","journal-title":"J Community Genet"},{"key":"782_CR21","doi-asserted-by":"publisher","first-page":"708960","DOI":"10.3389\/fpsyt.2021.708960","volume":"12","author":"M Hou","year":"2021","unstructured":"Hou M, Mao X, Hou X, Li K (2021) Stigma and associated correlates of elderly patients with Parkinson\u2019s disease. Front Psychiatry 12:708960. https:\/\/doi.org\/10.3389\/fpsyt.2021.708960","journal-title":"Front Psychiatry"},{"issue":"6","key":"782_CR22","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1046\/j.1365-2648.2003.02663.x","volume":"42","author":"G Joachim","year":"2003","unstructured":"Joachim G, Acorn S (2003) Life with a rare chronic disease: The scleroderma experience. J Adv Nurs 42(6):598\u2013606. https:\/\/doi.org\/10.1046\/j.1365-2648.2003.02663.x","journal-title":"J Adv Nurs"},{"key":"782_CR23","doi-asserted-by":"publisher","first-page":"108572","DOI":"10.1016\/j.yebeh.2022.108572","volume":"128","author":"N Karaka\u015f","year":"2022","unstructured":"Karaka\u015f N, Sar\u0131ta\u015f S\u00c7, Aktura S\u00c7, Karabulutlu EY, Oru\u00e7 FG (2022) Investigation of factors associated with stigma and social support in patients with epilepsy in Turkey: A cross-sectional study. Epilepsy Behav 128:108572. https:\/\/doi.org\/10.1016\/j.yebeh.2022.108572","journal-title":"Epilepsy Behav"},{"issue":"3","key":"782_CR24","doi-asserted-by":"publisher","first-page":"789","DOI":"10.3906\/sag-1811-50","volume":"49","author":"S Kar\u015fida\u011f","year":"2019","unstructured":"Kar\u015fida\u011f S, \u00c7inar N, \u015eahin \u015e, Kotevo\u011flu N, Ate\u015f MF (2019) Validation and reliability study of the Turkish version of the Neuroquality of Life (Neuro-QoL)-Stigma scale for neurological disorders. Turk J Med Sci 49(3):789\u2013794. https:\/\/doi.org\/10.3906\/sag-1811-50","journal-title":"Turk J Med Sci"},{"issue":"4","key":"782_CR25","doi-asserted-by":"publisher","first-page":"1481","DOI":"10.1177\/0033294120939844","volume":"124","author":"M Kneavel","year":"2021","unstructured":"Kneavel M (2021) Relationship between gender, stress, and quality of social support. Psychol Rep 124(4):1481\u20131501. https:\/\/doi.org\/10.1177\/0033294120939844","journal-title":"Psychol Rep"},{"issue":"1\u20132","key":"782_CR26","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1111\/jocn.v31.1-210.1111\/jocn.15922","volume":"31","author":"L Llubes-Arri\u00e0","year":"2022","unstructured":"Llubes-Arri\u00e0 L, Sanrom\u00e0-Ort\u00edz M, Torn\u00e9-Ruiz A, Carillo-\u00c1lvarez E, Judith J, Roca J (2022) Emotional experience of the diagnostic process of a rare disease and the perception of support systems: a scoping review. Abstract Journal of Clinical Nursing 31(1\u20132):20\u201331. https:\/\/doi.org\/10.1111\/jocn.v31.1-210.1111\/jocn.15922","journal-title":"Abstract Journal of Clinical Nursing"},{"issue":"4","key":"782_CR27","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1080\/10510974.2022.2102668","volume":"73","author":"BN Lash","year":"2022","unstructured":"Lash BN (2022) Managing stigma through laughter: Disability stigma & humor as a stigma management communication strategy. Commun Stud 73(4):412\u2013424. https:\/\/doi.org\/10.1080\/10510974.2022.2102668","journal-title":"Commun Stud"},{"issue":"11","key":"782_CR28","doi-asserted-by":"publisher","first-page":"6761","DOI":"10.1007\/s00520-021-06278-7","volume":"29","author":"H Lei","year":"2021","unstructured":"Lei H, Tian X, Jin YF, Tang L, Chen WQ, Jim\u00e9nez-Herrera MF (2021) The chain mediating role of social support and stigma in the relationship between mindfulness and psychological distress among Chinese lung cancer patients. Support Care Cancer 29(11):6761\u20136770. https:\/\/doi.org\/10.1007\/s00520-021-06278-7","journal-title":"Support Care Cancer"},{"key":"782_CR29","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1146\/annurev.soc.27.1.363","volume":"27","author":"BG Link","year":"2001","unstructured":"Link BG, Phelan JC (2001) Conceptualizing stigma. Annu Rev Sociol 27:363\u2013385. https:\/\/doi.org\/10.1146\/annurev.soc.27.1.363","journal-title":"Annu Rev Sociol"},{"issue":"1","key":"782_CR30","doi-asserted-by":"publisher","first-page":"27","DOI":"10.2337\/cd16-0020","volume":"35","author":"NF Liu","year":"2017","unstructured":"Liu NF, Brown AS, Younge MF, Guzman SJ, Close KL, Wood R (2017) Stigma in people with type 1 or type 2 diabetes. Clinical Diabetes 35(1):27\u201334. https:\/\/doi.org\/10.2337\/cd16-0020","journal-title":"Clinical Diabetes"},{"issue":"2","key":"782_CR31","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1093\/europace\/eur086","volume":"13","author":"TCA Lobban","year":"2011","unstructured":"Lobban TCA, Camm AJ (2011) Patient associations as stakeholders: A valuable partner for facilitating access to therapy. Europace 13(2):21\u201324. https:\/\/doi.org\/10.1093\/europace\/eur086","journal-title":"Europace"},{"issue":"2","key":"782_CR32","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1007\/s10461-022-03781-8","volume":"27","author":"S Lodi","year":"2023","unstructured":"Lodi S, Rossi SL, Bendiks S, Gnatienko N, Lloyd-Travaglini C, Vetrova M, Toussova O, Bushara N, Blokhina E, Krupitsky E, Ekstrand ML, Lioznov D, Samet JH, Lunze K (2023) Correlates of intersectional HIV and substance use stigma affecting people with HIV and substance use in St. Petersburg, Russia. AIDS Behav 27(2):462\u2013472. https:\/\/doi.org\/10.1007\/s10461-022-03781-8","journal-title":"AIDS Behav"},{"key":"782_CR33","unstructured":"Magliano L, D'angelo MG, Vita G, Pane M, D'amico A, Balottin U, Angelini C, Battini R, Politano L, Patalano M, Sagliocchi A, Civati F, Brighina E, Vita GL, Messina S, Sframeli M, Lombardo ME, Scalise R, Colia G, Catteruccia M, Berardinelli A, Motta MC, Gaiani A, Semplicini C, Bello L, Astrea G, Zaccaro A, Scutifero M (2014) Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study. Acta Myologica 33(3):136\u2013143 https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4369844\/. Accessed 05 Jan 2024"},{"issue":"4","key":"782_CR34","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1177\/1742395316648747","volume":"12","author":"U Manz","year":"2016","unstructured":"Manz U (2016) Genetic explanations, discrimination and chronic illness: A qualitative study on hereditary haemochromatosis in Germany. Chronic Illn 12(4):308\u2013319. https:\/\/doi.org\/10.1177\/1742395316648747","journal-title":"Chronic Illn"},{"issue":"4\u20135","key":"782_CR35","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1080\/13557858.2010.541903","volume":"16","author":"VM Marsh","year":"2011","unstructured":"Marsh VM, Kamuya DM, Molyneux SS (2011) \u201cAll her children are born that way\u201d: Gendered experiences of stigma in families affected by Sickle Cell disorder in rural Kenya. Ethn Health 16(4\u20135):343\u2013359. https:\/\/doi.org\/10.1080\/13557858.2010.541903","journal-title":"Ethn Health"},{"issue":"5","key":"782_CR36","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1007\/s11136-020-02415-7","volume":"29","author":"G Martinent","year":"2020","unstructured":"Martinent G, Carrot M, Chirac A, Dupuis-Girod S, Fargeton AE, Blois Da Concei\u00e7\u00e3o S, Fourdrinoy S (2020) Hereditary hemorrhagic telangiectasia and health-related quality of life: A qualitative investigation. Qual Life Res 29(5):1291\u20131299. https:\/\/doi.org\/10.1007\/s11136-020-02415-7","journal-title":"Qual Life Res"},{"issue":"12","key":"782_CR37","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1080\/09540121.2013.793268","volume":"25","author":"Y Molina","year":"2013","unstructured":"Molina Y, Ramirez-Valles J (2013) HIV\/AIDS stigma: Measurement and relationships to psycho-behavioral factors in Latino gay\/bisexual men and transgender women. AIDS Care - Psychol Socio-Med Asp AIDS\/HIV 25(12):1559\u20131568. https:\/\/doi.org\/10.1080\/09540121.2013.793268","journal-title":"AIDS Care - Psychol Socio-Med Asp AIDS\/HIV"},{"issue":"8","key":"782_CR38","doi-asserted-by":"publisher","first-page":"948","DOI":"10.1080\/08870446.2021.1912344","volume":"37","author":"M Munro","year":"2022","unstructured":"Munro M, Cook AM, Bogart KR (2022) An inductive qualitative content analysis of stigma experienced by people with rare diseases. Psychol Health 37(8):948\u2013963. https:\/\/doi.org\/10.1080\/08870446.2021.1912344","journal-title":"Psychol Health"},{"issue":"1","key":"782_CR39","doi-asserted-by":"publisher","first-page":"1360","DOI":"10.1186\/s12889-024-18852-9","volume":"24","author":"L Nilsson Sch\u00f6nnesson","year":"2024","unstructured":"Nilsson Sch\u00f6nnesson L, Dahlberg M, Reinius M, Zeluf-Andersson G, Ekstr\u00f6m AM, Eriksson LE (2024) Prevalence of HIV-related stigma manifestations and their contributing factors among people living with HIV in Sweden \u2013 A nationwide study. BMC Public Health 24(1):1360. https:\/\/doi.org\/10.1186\/s12889-024-18852-9","journal-title":"BMC Public Health"},{"issue":"25","key":"782_CR40","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1471-2288-4-25","volume":"4","author":"A O\u2019Cathain","year":"2004","unstructured":"O\u2019Cathain A, Thomas KJ (2004) \u201cAny other comments?\u201d Open questions on questionnaires - A bane or a bonus to research? BMC Med Res Methodol 4(25):1\u20137. https:\/\/doi.org\/10.1186\/1471-2288-4-25","journal-title":"BMC Med Res Methodol"},{"issue":"5","key":"782_CR41","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1007\/s10897-009-9240-1","volume":"18","author":"M Paneque","year":"2009","unstructured":"Paneque M, Lemos C, Sousa A, Vel\u00e1zquez L, Fleming M, Sequeiros J (2009) Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent. J Genet Couns 18(5):483\u2013493. https:\/\/doi.org\/10.1007\/s10897-009-9240-1","journal-title":"J Genet Couns"},{"key":"782_CR42","doi-asserted-by":"publisher","first-page":"263300402311644","DOI":"10.1177\/26330040231164425","volume":"4","author":"AM Patterson","year":"2023","unstructured":"Patterson AM, O\u2019Boyle M, VanNoy GE, Dies KA (2023) Emerging roles and opportunities for rare disease patient advocacy groups. Ther Adv Rare Dis 4:26330040231164424. https:\/\/doi.org\/10.1177\/26330040231164425","journal-title":"Ther Adv Rare Dis"},{"key":"782_CR43","doi-asserted-by":"publisher","first-page":"387","DOI":"10.21203\/rs.3.rs-4183211\/v1","volume":"15","author":"JD Pereira","year":"2024","unstructured":"Pereira JD, Costa C, Santos A, Lemos MS, Sequeiros J, Paneque M (2024) \u201cLiving with a question mark\u201d: Psychosocial experience of Portuguese young adults at risk for hereditary Amyloid Transthyretin Amyloidosis with Polyneuropathy. Res Sq 15:387. https:\/\/doi.org\/10.21203\/rs.3.rs-4183211\/v1","journal-title":"Res Sq"},{"issue":"2","key":"782_CR44","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1007\/s10826-013-9864-5","volume":"24","author":"RL Picci","year":"2015","unstructured":"Picci RL, Oliva F, Trivelli F, Carezana C, Zuffranieri M, Ostacoli L, Furlan PM, Lala R (2015) Emotional burden and coping strategies of parents of children with rare diseases. J Child Fam Stud 24(2):514\u2013522. https:\/\/doi.org\/10.1007\/s10826-013-9864-5","journal-title":"J Child Fam Stud"},{"issue":"1","key":"782_CR45","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1097\/01.gim.0000195894.67756.8b","volume":"8","author":"P Sankar","year":"2006","unstructured":"Sankar P, Cho MK, Wolpe PR, Schairer C (2006) What is in a cause? Exploring the relationship between genetic cause and felt stigma. Genet Med 8(1):33\u201342. https:\/\/doi.org\/10.1097\/01.gim.0000195894.67756.8b","journal-title":"Genet Med"},{"issue":"9133","key":"782_CR46","doi-asserted-by":"publisher","first-page":"1054","DOI":"10.1016\/S0140-6736(98)08068-4","volume":"352","author":"G Scambler","year":"1998","unstructured":"Scambler G (1998) Stigma and disease: Changing paradigms. Lancet 352(9133):1054\u20131055. https:\/\/doi.org\/10.1016\/S0140-6736(98)08068-4","journal-title":"Lancet"},{"issue":"10","key":"782_CR47","doi-asserted-by":"publisher","first-page":"1141","DOI":"10.1080\/08870446.2019.1583341","volume":"34","author":"A Sexton","year":"2019","unstructured":"Sexton A, Gargan B, Taylor J, Bogwitz M, Winship I (2019) Living with Hereditary Haemorrhagic Telangiectasia: Stigma, coping with unpredictable symptoms, and self-advocacy. Psychol Health 34(10):1141\u20131160. https:\/\/doi.org\/10.1080\/08870446.2019.1583341","journal-title":"Psychol Health"},{"key":"782_CR48","doi-asserted-by":"crossref","unstructured":"Silva DH, do Nascimento Paix\u00e3o GP, dos Santos Silva C, Santos Bittencourt I, Jambeiro Evangelista T, Souza da Silva R (2013) Anemia Falciforme e seus aspectos psicossociais: o olhar do doente e do cuidador familiar. Revista CUIDARTE 4(1):475\u2013483 http:\/\/www.redalyc.org\/articulo.oa?id=359533224007 . Accessed 12 June 2024","DOI":"10.15649\/cuidarte.v4i1.7"},{"issue":"1","key":"782_CR49","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13033-021-00502-x","volume":"15","author":"MA Subu","year":"2021","unstructured":"Subu MA, Wati DF, Netrida N, Priscilla V, Dias JM, Abraham MS, Slewa-Younan S, Al-Yateem N (2021) Types of stigma experienced by patients with mental illness and mental health nurses in Indonesia: A qualitative content analysis. Int J Ment Health Syst 15(1):1\u201312. https:\/\/doi.org\/10.1186\/s13033-021-00502-x","journal-title":"Int J Ment Health Syst"},{"issue":"4","key":"782_CR50","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1089\/cyber.2019.0516","volume":"23","author":"S Tifferet","year":"2020","unstructured":"Tifferet S (2020) Gender differences in social support on social network sites: A meta-analysis. Cyberpsychol Behav Soc Netw 23(4):199\u2013209. https:\/\/doi.org\/10.1089\/cyber.2019.0516","journal-title":"Cyberpsychol Behav Soc Netw"},{"issue":"10","key":"782_CR51","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1016\/S0277-9536(99)00389-5","volume":"50","author":"C Vlassoff","year":"2000","unstructured":"Vlassoff C, Weiss M, Ovuga EBL, Eneanya C, Nwel PT, Babalola SS, Awedoba AK, Theophilus B, Cofie P, Shetabi P (2000) Gender and the stigma of onchocercal skin disease in Africa. Soc Sci Med 50(10):1353\u20131368. https:\/\/doi.org\/10.1016\/S0277-9536(99)00389-5","journal-title":"Soc Sci Med"},{"issue":"3","key":"782_CR52","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1007\/s10689-010-9325-x","volume":"9","author":"A Vodermaier","year":"2010","unstructured":"Vodermaier A, Esplen MJ, Maheu C (2010) Can self-esteem, mastery and perceived stigma predict long-term adjustment in women carrying a BRCA1\/2-mutation? Evidence from a multi-center study. Fam Cancer 9(3):305\u2013311. https:\/\/doi.org\/10.1007\/s10689-010-9325-x","journal-title":"Fam Cancer"},{"issue":"3","key":"782_CR53","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1080\/13548500600595053","volume":"11","author":"MG Weiss","year":"2006","unstructured":"Weiss MG, Ramakrishna J, Somma D (2006) Health-related stigma: Rethinking concepts and interventions. Psychol Health Med 11(3):277\u2013287. https:\/\/doi.org\/10.1080\/13548500600595053","journal-title":"Psychol Health Med"},{"issue":"1","key":"782_CR54","first-page":"40","volume":"18","author":"PC West","year":"1984","unstructured":"West PC (1984) Social stigma and community recreation participation by the mentally and physically handicapped. Ther Recreation J 18(1):40\u201349","journal-title":"Ther Recreation J"},{"key":"782_CR55","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.socscimed.2014.02.010","volume":"107","author":"R Whitley","year":"2014","unstructured":"Whitley R, Campbell RD (2014) Stigma, agency and recovery amongst people with severe mental illness. Soc Sci Med 107:1\u20138. https:\/\/doi.org\/10.1016\/j.socscimed.2014.02.010","journal-title":"Soc Sci Med"},{"issue":"1","key":"782_CR56","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1186\/s12872-023-03556-6","volume":"23","author":"M Wolfgang","year":"2023","unstructured":"Wolfgang M, Beskow L, Hooker G, Roberson M, Anderson K (2023) Stigma manifestations in cardiomyopathy care impact outcomes for black patients: A qualitative study. BMC Cardiovasc Disord 23(1):553. https:\/\/doi.org\/10.1186\/s12872-023-03556-6","journal-title":"BMC Cardiovasc Disord"},{"issue":"2","key":"782_CR57","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1080\/00909882.2017.1288292","volume":"45","author":"X Zhu","year":"2017","unstructured":"Zhu X, Smith RA, Parrott RL (2017) Living with a rare health condition: The influence of a support community and public stigma on communication, stress, and available support. J Appl Commun Res 45(2):179\u2013198. https:\/\/doi.org\/10.1080\/00909882.2017.1288292","journal-title":"J Appl Commun Res"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-025-00782-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-025-00782-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-025-00782-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:12:52Z","timestamp":1761707572000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-025-00782-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,28]]},"references-count":57,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["782"],"URL":"https:\/\/doi.org\/10.1007\/s12687-025-00782-7","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-5346980\/v1","asserted-by":"object"}]},"ISSN":["1868-6001"],"issn-type":[{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,28]]},"assertion":[{"value":"28 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 February 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All procedures followed were in accordance with Portuguese legislation and the Helsinki Declaration of 2000. The study received ethics approval from i3S\u2019s Committee for Ethical and Responsible Conduct of Research (N22 \/CECRI\/2023). Informed consent was obtained from all participants included in the study. No non-human animal studies were carried out by the authors for this study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This article does not contain any studies with human or animal subjects performed by any of the authors.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and animal rights"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}