"Living with a question mark": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy.
Amyloidosis, hereditary, transthyretin-related
Genetic counseling
Portugal
Qualitative research
Young adult
Journal
Journal of community genetics
ISSN: 1868-310X
Titre abrégé: J Community Genet
Pays: Germany
ID NLM: 101551501
Informations de publication
Date de publication:
08 Jul 2024
08 Jul 2024
Historique:
received:
28
03
2024
accepted:
26
06
2024
medline:
8
7
2024
pubmed:
8
7
2024
entrez:
8
7
2024
Statut:
aheadofprint
Résumé
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). 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' 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.
Identifiants
pubmed: 38976223
doi: 10.1007/s12687-024-00717-8
pii: 10.1007/s12687-024-00717-8
doi:
Types de publication
Journal Article
Langues
eng
Informations de copyright
© 2024. The Author(s).
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