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The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for pre-symptomatic testing (PST) at a single genetics outpatient center in Portugal. The data were analyzed qualitatively. The main findings suggest that four themes mark the psychosocial experience of the young adults interviewed. The first refers to the development of psychological representations, namely beliefs, mental representations, and social perceptions about hATTR-PN. The second regards the experienced and anticipated psychosocial impacts, namely, suffering, anxiety, and relief related to the disease. The third is related to using strategies such as performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies to deal with these impacts over time. Finally, the fourth aspect concerns the perceived and expected support for the participants\u2019 needs provided by social contexts, that is, family and genetic counseling. In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population.<\/jats:p>","DOI":"10.1007\/s12687-024-00717-8","type":"journal-article","created":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T14:02:21Z","timestamp":1720447341000},"page":"401-411","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["\u201cLiving with a question mark\u201d: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy"],"prefix":"10.1007","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1870-1265","authenticated-orcid":false,"given":"Jos\u00e9 D.","family":"Pereira","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1692-0402","authenticated-orcid":false,"given":"Catarina","family":"Costa","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8829-444X","authenticated-orcid":false,"given":"Andreia","family":"Santos","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5259-7935","authenticated-orcid":false,"given":"Marina S.","family":"Lemos","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9846-1037","authenticated-orcid":false,"given":"Jorge","family":"Sequeiros","sequence":"additional","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":[[2024,7,8]]},"reference":[{"key":"717_CR1","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/s41582-019-0210-4","volume":"15","author":"D Adams","year":"2019","unstructured":"Adams D, Koike H, Slama M, Coelho T (2019) Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. 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Approval was granted by the Committee for Ethical and Responsible Conduct of Research of the Institute for Research and Innovation in Health (Appraisal N 24\/CECRI\/2022).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed consent was obtained from all the participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"J.D.P., C.C., A.S., M.S.L., J.S., M.P., and \u00c1.M. declare that all data support their published claims and comply with field standards.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data transparency"}}]}}