{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"Research Square"}],"indexed":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T05:46:44Z","timestamp":1741067204900,"version":"3.38.0"},"posted":{"date-parts":[[2024,12,3]]},"group-title":"In Review","reference-count":56,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:00:00Z","timestamp":1733184000000},"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":[[2024,10,28]]},"abstract":"<title>Abstract<\/title>\n        <p><bold>Introduction:<\/bold> 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.\n<bold>Methodology:<\/bold> 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.\n<bold>Results:<\/bold> 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 = .879). Women and younger participants reported higher levels of stigma. Religiosity and humor emerged as key coping strategies.\n<bold>Discussion: <\/bold>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.<\/p>","DOI":"10.21203\/rs.3.rs-5346980\/v1","type":"posted-content","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T23:59:22Z","timestamp":1733270362000},"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 Mixed-Method Study"],"prefix":"10.21203","author":[{"given":"Joana","family":"Valentim","sequence":"first","affiliation":[{"name":"Faculty of Psychology and Social Sciences of University of Coimbra"}]},{"given":"Milena","family":"Paneque","sequence":"additional","affiliation":[{"name":"CGPP \u2013 Centre for Predictive and Preventive Genetics, University of Porto"}]},{"given":"\u00c1lvaro","family":"Mendes","sequence":"additional","affiliation":[{"name":"CGPP \u2013 Centre for Predictive and Preventive Genetics, University of Porto"}]}],"member":"297","reference":[{"issue":"14","key":"ref1","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1177\/1359105317714643","article-title":"Experiences of stigma over the lifetime of people with xeroderma pigmentosum: A qualitative interview study in the United Kingdom","volume":"24","author":"Anderson R","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. 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