{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"Research Square"}],"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T05:42:12Z","timestamp":1761716532345,"version":"3.37.3"},"posted":{"date-parts":[[2024,4,8]]},"group-title":"In Review","reference-count":35,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T00:00:00Z","timestamp":1712534400000},"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":[[2024,3,28]]},"abstract":"<title>Abstract<\/title>\n        <p>This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN), specifying developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for presymptomatic testing (PST) at a single genetics outpatient center in Portugal, and the data were analyzed thematically. The main findings suggest that the psychosocial experience of the young adults interviewed is marked by: (a) the development of psychological representations (viz., beliefs, mental representations, and social perceptions) about hATTR-PN, (b) experienced and anticipated psychosocial impacts (viz., suffering, anxiety, and relief) related to the disease, (c) the use of strategies (viz., performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies) to deal with these impacts over time, and (d) the perceived and expected support for the participants' needs provided by social contexts (viz., 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 added 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 the young adults belonging to families with the disease. In addition, 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.<\/p>","DOI":"10.21203\/rs.3.rs-4183211\/v1","type":"posted-content","created":{"date-parts":[[2024,4,8]],"date-time":"2024-04-08T19:40:57Z","timestamp":1712605257000},"source":"Crossref","is-referenced-by-count":2,"title":["\u201cLiving With a Question Mark\u201d: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy"],"prefix":"10.21203","author":[{"given":"Jos\u00e9 D.","family":"Pereira","sequence":"first","affiliation":[{"name":"CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Cell and Molecular Biology, i3S - Institute for Research and Innovation in Health, University of Porto, Porto"}]},{"given":"Catarina","family":"Costa","sequence":"additional","affiliation":[{"name":"CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Cell and Molecular Biology, i3S - Institute for Research and Innovation in Health, University of Porto, Porto"}]},{"given":"Andreia","family":"Santos","sequence":"additional","affiliation":[{"name":"Associa\u00e7\u00e3o de Solidariedade Social \u201cO Tecto\u201d, Vila do Conde, Porto"}]},{"given":"Marina S.","family":"Lemos","sequence":"additional","affiliation":[{"name":"FPCEUP - Faculty of Psychology and Educational Sciences, University of Porto, Porto"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Cell and Molecular Biology, i3S - Institute for Research and Innovation in Health, University of Porto, Porto"}]},{"given":"Milena","family":"Paneque","sequence":"additional","affiliation":[{"name":"CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Cell and Molecular Biology, i3S - Institute for Research and Innovation in Health, University of Porto, Porto"}]},{"given":"\u00c1lvaro","family":"Mendes","sequence":"additional","affiliation":[{"name":"CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Cell and Molecular Biology, i3S - Institute for Research and Innovation in Health, University of Porto, Porto"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/s41582-019-0210-4","article-title":"Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease","volume":"15","author":"Adams D","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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