{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:34:51Z","timestamp":1772120091966,"version":"3.50.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006752","name":"Universidade do Porto","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006752","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>This study is the first to explore the psychosocial experience of members of Portuguese families with late-onset variant transthyretin amyloidosis with polyneuropathy (A-ATTRv-PN). Based on a constructivist worldview, this phenomenological investigation followed a qualitative approach by conducting eight interviews and analyzing qualitative data. The main results suggest that the psychosocial experience of the members of families interviewed is marked by: (a) a delayed awareness of the family disease (viz., in adulthood), (b) psychosocial impacts (viz., emotional and other impacts related to work, parenting, caregiving) experienced and anticipated in an adult phase of the life cycle, and (c) the use of approach strategies (e.g., seeking information about A-ATTRv-PN and seeking social support) and\/or avoidance strategies (e.g., avoiding seeking information and talking to others about the condition) with a view to accommodating A-ATTRv-PN in personal and family life. These results differ from the life trajectories of members of Portuguese families with A-ATTRv-PN described previously and extend previous scientific evidence on the psychosocial experience of members of families where the disease typically appears late, contributing to further study on this topic and to the optimization of genetic counseling practices and health policies that respond to the psychosocial needs of members of Portuguese families with late onset of the condition. Future studies should continue to deepen our understanding of the psychosocial experience of this population to improve the clinical response provided to patients, families, and caregivers.<\/jats:p>","DOI":"10.1007\/s12687-025-00776-5","type":"journal-article","created":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T05:40:22Z","timestamp":1740030022000},"page":"301-309","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The other side of variant transthyretin amyloidosis with polyneuropathy: psychosocial experience of members of Portuguese families with late onset of the disease"],"prefix":"10.1007","volume":"16","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\/0000-0002-8829-444X","authenticated-orcid":false,"given":"Andreia","family":"Santos","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4109-4635","authenticated-orcid":false,"given":"Eugenia","family":"Cisneros-Barroso","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2874-7643","authenticated-orcid":false,"given":"Intissar","family":"Anan","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\/0000-0002-6535-4315","authenticated-orcid":false,"given":"Milena","family":"Paneque","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2025,2,20]]},"reference":[{"key":"776_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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Pereira\u2019s doctoral research on the psychological experience of Portuguese families with A-ATTRv-PN, was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Committee for Ethical and Responsible Conduct of Research of Institute for Research and Innovation in Health (Appraisal N 24\/CECRI\/2022).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Jos\u00e9 D. Pereira, Andreia Santos, Eugenia Cisneros-Barroso, Intissar Anan, Marina S. Lemos and Milena Paneque declare that all data support their published claims and comply with field standards.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data transparency"}},{"value":"Jos\u00e9 D. Pereira has received a doctoral grant attributed by the Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia (reference codes: SFRH\/BD\/138012\/2018 and COVID\/BD\/153242\/2023), which was financial supported by the Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia and the European Union, as well as supported by North Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Social Fund (ESF). Andreia Santos, Eugenia Cisneros-Barroso, Intissar Anan, Marina S. Lemos e Milena Paneque have no conflicts of interest to disclose.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"The authors declare no competing interests.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}