“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy

“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article “Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy José D. Pereira, Catarina Costa, Andreia Santos, Marina S. Lemos, and 3 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4183211/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 9 You are reading this latest preprint version Abstract 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. Young Adult Amyloidosis Hereditary Transthyretin-Related Genetic Counseling Portugal Qualitative Research. Figures Figure 1 1 Introduction Hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN) is a rare multisystem disease with the predominant involvement of the peripheral nervous system (Adams et al. 2019 ). Prevalent worldwide, it is considered endemic in several regions, such as Portugal (Schmidt et al. 2018 ). hATTR-PN is an autosomal dominant disease caused by the accumulation of amyloidogenic transthyretin in organs and tissues (Adams et al. 2019 ), which is mainly the result of the presence of the Val30Met variant (Parman et al. 2016 ) in the TTR gene (Adams et al. 2019 ). Associated with this variant, and despite traditionally being thought of as an early-onset disease (< 50 years) in Portugal (Adams et al. 2021 ), Inês et al. ( 2018 ) reported a significant increase in the average age of onset and an increase in the representation of patients with late-onset hATTR-PN (≥ 50 years) in the country. In any case, to prevent the disease from progressing to death, patients diagnosed with hATTR-PN may benefit from the early use of disease-modifying therapies (Holmgren et al. 1993 ; Bulawa et al. 2012 ; Gorevic et al. 2021 ). On the other hand, genetic counseling is recommended for family members of people affected by hATTR-PN (Obici et al. 2016 ). Within this scope, a Portuguese protocol for genetic counseling in the context of presymptomatic testing (PST) was implemented in 1995 at the Centre for Predictive and Preventive Genetics (CGPP), a clinical unit of a research institute at the University of Porto. The protocol can be offered to people at 50% risk for hATTR-PN to predict their chances of developing the disease in the future and includes: (a) a pre-test neurological examination, a psychosocial assessment and at least two genetic counseling sessions; (b) a PST results dissemination session; and (c) a psychosocial follow-up at 3 weeks, at 6 months and a year after the results (Sequeiros 1996 ). In a retrospective study collecting data from the clinical files of users who requested PST over the first 20 years of the CGPP (i.e. between 1996 and 2015), Paneque et al. ( 2019 ) reported that individuals at risk for hATTR-PN were the youngest group and those with a highest request rate of PST, which can be principally explained by the fact that the disease mainly affects young adults in Portugal (Inês et al. 2018 ). Young adulthood, defined by Arnett ( 2000 , 2007 ) as the developmental period between the ages of 18 and 29, represents a unique moment in the life course in terms of the content, quality, and mediums of communication with family, friends, and romantic partners. Specifically, young adults are in a period of life marked by: (a) identity explorations (which involve crucial decision-making processes related to their love and professional lives), (b) changes in love partners, jobs, educational directions, and living arrangements; (c) an independent decision-making; (d) an ambiguous feeling related to their developmental definition between the periods of adolescence and adulthood; and (e) optimism about the future (Willoughby et al., 2022 ). These characteristics, while not exclusive to young adulthood, reach their peak in this period, which can be impacted by additional challenges related to the psychosocial experience of hATTR-PN. Studies (e.g., González-Moreno et al. 2021; Lopes, Sousa et al. 2018 ; Magliano et al. 2021 ) have contributed to a better understanding of the psychosocial experience of hATTR-PN and its implications for the lives of members of families with the disease. Specifically, the family has been considered by these individuals as the main source of knowledge and learning about hATTR-PN (Leite et al. 2016 ; Paneque et al. 2019 ), so it is inevitable that the psychological representations (e.g., beliefs, mental representations, and social perceptions) constructed about the disease are related to their family experience (Leite, Dinis et al. 2017a ; Leite, Leite et al. 2017 ; Mendes et al. 2017 ). Additionally, although certain studies (e.g., Lêdo et al. 2013 ; Lopes, Rodrigues et al. 2018 ; Matos and Carvalho 2015 ) have reported healthy adaptations to PST results and balanced functioning in families with hATTR-PN, scientific evidence (e.g., Lopes, Rodrigues et al. 2018 ; Lopes, Sousa et al. 2018 ; Matos and Carvalho 2015 ) has mainly reported that the experience with the disease generates psychosocial impacts. Various strategies have been described by members of families with this type of disease as they deal with these impacts (e.g., Leite, Dinis et al. 2017b ; Leite, Leite et al. 2017 ; Moos 1984 ), including carrying out PST, regulating negative emotions associated with hATTR-PN, constructing meanings that make it possible to manage the situation, and seeking social support. Even so, successful versus dysfunctional coping and adaptation to hATTR-PN can be influenced both by the way the family models (behaviors), encourages, informs and supports its members (Oliveira et al. 2017a , b , 2021 ) and by the role that genetic counseling, as a psychoeducational support context, can play in the process of guiding families with the disease (Lopes, Sousa et al. 2018 ; Rolland 2012 ; Rolland and Williams 2005 ). Thus, despite the extensive literature on the psychosocial experience of members of families with hATTR-PN, few studies consider the specific developmental characteristics and tasks of young adulthood in relation to other stages of the life cycle. Consequently, given that young adults has been the most affected by the disease in Portugal and that individuals at risk for hATTR-PN were the youngest group and those with a highest request rate of PST at the CGPP between 1996 and 2015, a research that addresses the psychosocial experience of young Portuguese adults at genetic risk for the disease could contribute to a better understanding of the topic and, subsequently, optimize genetic counseling practices and health policies that respond to the psychosocial needs of this population. Therefore, this study aims to fill this research gap by exploring the psychosocial experience of young Portuguese adults at genetic risk for hATTR-PN, specifying developmental peculiarities of their experience with the familial disease and with the PST process itself, a topic not yet reported in this population, to the best of our knowledge. 2 Method 2.1 Study Design Based on a constructivist worldview, this phenomenological research followed a qualitative approach by conducting interviews and qualitative data analysis processes suggested by Creswell and Creswell ( 2018 ) and Tesch ( 1990 ). This study design was selected to explore and understand the multiple meanings of the psychosocial experience of young adults at risk for hATTR-PN, providing results with methodological integrity. 2.2 Participants Participants were recruited from individuals who had undergone PST for hATTR-PN at the CGPP. When receiving these people for consultation at the center, the clinical secretary shared informational materials about the study and its objectives. Those who showed an interest in participating were approached in person or by telephone by J.D.P. to clarify any doubts about the research and to schedule the interviews. The convenience sampling method was used to select the participants who were young Portuguese adults aged 18 to 29 at risk for hATTR-PN and expressed their consent to participate. Individuals with severe cognitive impairment were excluded. The mean age of the participants was 21.25 years ( SD = 3.02). All participants were of European ethnic origin, single, living in the northwest region of Portugal and undergoing the PST protocol due to their genetic risk for hATTR-PN. Additional sociodemographic information about the participants is described in Table 1 . Table 1 Participants' sociodemographic information. Sociodemographic characteristics n % Examples of participants Sex Female 10 62.5 1, 2, 8, 9, 10, 11, e 12 Male 6 37.5 5, 7, e 15 Age (in years) 18 3 18.75 1, 2, e 12 19 3 18.75 15 20 1 6.25 7 21 3 18.75 11 22 1 6.25 8 23 2 12.5 5 e 9 24 1 6.25 25 1 6.25 29 1 6.25 10 Education Basic education 4 25 7 e 12 Secondary education 6 37.5 1, 2, 8, 11, e 15 Higher education 6 37.5 5, 9, e 10 Occupational status Active 15 93.75 1, 2, 5, 7, 8, 9, 10, 11, 12, e 15 Inactive 1 6.25 Sex of the parent diagnosed or at risk Female 8 50 2, 5, e 9 Male 8 50 1, 7, 8, 10, 11, 12, e 15 Status of the parent diagnosed or at risk Living without symptoms 4 25 5 e 10 Living with symptoms 10 62.5 1, 7, 8, 9, 11, 12, e 15 Deceased 2 12.5 2 Number of participants' siblings 0 4 25 1, 5, 8, e 11 1 or more 12 75 2, 7, 9, 10, 12, e 15 2.3 Procedure As part of a broader research project that began in 2016 on the psychosocial experience of Portuguese families with hATTR-PN, this research involved 13 face-to-face interviews conducted in a private room at the CGPP and three telephone interviews using the CGPP's landline until saturation of the data relevant to the topic under study was reached, as postulated by Charmaz ( 2006 ). The semi-structured individual interviews, conducted by J.D.P. throughout the PST protocol and before each participant's test result disclosure session, included collecting sociodemographic and other disease-related information, followed by open and closed questions about the psychosocial experience of being at risk for hATTR-PN. More specifically, they covered topics such as motivation to take the PST (e.g., feelings, expectations, the value of genetic information, as well as personal and family involvement with taking the test), psychosocial impacts of hATTR-PN (e.g., perceptions of health and illness, as well as adaptation to family disease), the experience of talking to family members and health professionals about test results or genetic risks more broadly, and psychosocial needs (e.g., support). When other issues that emerged as salient were explored, the interviewer encouraged participants to clarify and elaborate on their arguments. The interviews lasted between 19 and 62 min, with an average time of 41 min. Informed consent was obtained from all the participants included in the study. All identifying information was removed from the transcripts by assigning identification codes to the participants. This action sought to ensure the confidentiality and anonymity of the data. The codes, which included the participant's unique number (e.g., P1), are used in the Findings section to identify the source of the quotes. This research was approved by the Committee for Ethical and Responsible Conduct of Research of the Institute for Research and Innovation in Health. 2.4 Analysis All the interviews were audio-recorded with the consent of the participants and then transcribed verbatim into Portuguese by J.D.P., C.C. and A.S. The transcripts were then analyzed by J.D.P. following the qualitative data analysis process suggested by Creswell and Creswell ( 2018 ) as well as specific coding procedures proposed by Tesch ( 1990 ). After organizing and preparing the data for analysis, J.D.P. read all the transcripts and began coding the information to generate themes, which are represented through a narrative passage to convey the analyzed results. In order to ensure the production of findings with methodological integrity, multiple validity procedures (viz., triangulation of different participants' perspectives, use of rich and dense descriptions to convey findings, presentation of discrepant information with the general perspective of the participants, spending prolonged time in the field under study, and participation of C.C. and A.S. as peer debriefers) and reliability (viz., verification of transcripts and holding regular meetings between J.D.P., M.P. and Á.M. to discuss analysis) were incorporated into this research in accordance with the recommendations of Creswell and Creswell ( 2018 ), as well as Gibbs ( 2007 ), respectively. 3 Findings The data analysis suggested that the psychosocial experience of the young adults interviewed is marked by: (a) the development of psychological representations about hATTR-PN, (b) experienced and anticipated psychosocial impacts related to the disease, (c) the use of strategies to deal with these impacts over time, and (d) the perceived and expected support for the participants' needs provided by social contexts. These four themes, represented in Fig. 1 , are not mutually exclusive and represent fluid categories. 3.1 Psychological Representations Participants (e.g., P2) expressed having developed beliefs, namely about the possibility of developing or not the disease and the factors that can influence this probability, as they experienced hATTR-PN on an individual and family level. P2: I think I'm going to get [the disease], because my brother has it too. I know that [the likelihood of developing it] is 50%, but it's more likely that I'll have it too. The participants' psychosocial experience with hATTR-PN also led to the development of mental representations influenced by the different experiences of the disease and its consequences in the family context, as exemplified by excerpts from P11 and P5. P11: [hATTR-PN] isn't something that scares me. I know it can have implications, but I think anyone who is informed and has seen all sides of the disease can think positively. If there is no cure, there are alternative responses that have been successful so far. P5: [hATTR-PN] scares me a bit. I've never had much contact with the disease. My grandfather died of it, but I never met him. My mother has [hATTR-PN], but she's 50 and has never had any symptoms. (...) I think [people with the disease] are normal. They just have a different gene. Participants (e.g., P1) also expressed having developed perceptions of social stigma related to hATTR-PN, especially in social contexts with little knowledge of the disease. P1: My family [thinks] like me, [they look at someone from a family with hATTR-PN as] a normal person. My family knows... Now, in society... sometimes even trying to distance themselves from the person because they have this disease is because they have no idea what [it] is. Because if they knew, maybe they would act in a normal way. 3.2 Psychosocial Impacts Participants (e.g. P12) said they had experienced episodes of suffering and anxiety as they experienced the disease and its consequences in a family context. Nevertheless, they reported experiencing similar emotions associated with carrying out the PST and its possible results, as the excerpt from P9 illustrates. P12: [Being at genetic risk for hATTR-PN is to experience] the anguish of having or not having the disease and the pressure caused by the family to perform the PST. Sometimes [it's] not being seen in the best light by society. [It's experiencing] the suffering of seeing a father with the disease and everything he's been through [because of it]. I think the accompaniment of all this kills us. P9: I feel anxious [about taking the PST]. (...) I'm worried about my mother's [reaction if the PST result is that I'm a carrier] and both my brother's reactions [to the PST result]. It will be more complicated for me to convey to him that I don't have the disease. But I think it will be more difficult for him to digest [knowing] that I have it. It's a feeling... it's going to be ambiguous. A possible non-carrier result in PST was anticipated by participants (e.g., P15) as an event that would generate individual and family relief, although a carrier result could produce similar emotions at an individual level due to the reduction in uncertainty associated with the genetic risk for hATTR-PN (as mentioned by P8). P15: [If the PST result is that I'm not a carrier] and allied to the fact that my brother doesn't have the disease, that breaks a cycle. A cycle that is important to me, but also brings peace to the family. P8: [Whatever the PST result] I'll be relieved. I won't think about the 50/50 [chance of having or not having hATTR-PN] anymore. However, there were participants (e.g., P5) who said they had experienced reduced psychosocial impacts while living with the disease in a family context and reported that they expected similar impacts from the PST. P5: When I found out I might have [hATTR-PN], I didn't know about it. I tried to get [the PST], but I was never worried about it. (...) My mother never had any symptoms and if the disease appears, it will be late. (...) I know there are treatments [for hATTR-PN], so I don't think there's any reason to worry about that. 3.3 Coping With the Psychosocial Impacts Participants (e.g. P9) expressed using the PST as a means of coping with experienced or anticipated psychosocial impacts associated with hATTR-PN. P9: I've had enough of living with a question mark behind me. [Taking the PST] is to be sure [whether I'm a carrier of hATTR-PN or not] and to find out about my life. (...) [If the result of the PST is that I'm a carrier] it will give me time to get my head around it and to be more aware and more alert when I have symptoms [of the disease]. The use of emotional regulation strategies (e.g., avoidance/distraction, catastrophizing, wishful thinking, rumination, and acceptance/resignation/disinvestment) was also expressed by participants (e.g., P7 and P5) as a resource to mitigate the psychosocial impacts experienced or anticipated in relation to hATTR-PN. P7: When I'm feeling low, I try to distract myself straight away. (...) I think more about the fact that I'm going to have [a carrier result] to try to manage the response [to the PST result] better. (...) If we don't both have [a carrier result] [i.e. the participant and a friend who also came to do the PST], it's going to be a party all the way home. I'm thinking about that too, of course. P5: [When I found out I might have the disease], I was almost always thinking [about it]. But then I didn't spend much time thinking [about hATTR-PN]. If things have to happen, they will. (...) [The disease] is not the end of the world. There are solutions and there will probably be new ones in a few years' time. (...) I'm not attaching too much importance to carrying out the test. In view of the impacts experienced, participants (e.g., P11) also stated that they had given new meanings to hATTR-PN during the genetic risk state. P11: [When I found out about the disease in the family, it was] a bit scary (...) [Currently, hATTR-PN and the PST] is not something that scares me. (...) Being informed [about the disease] allows me to have a positive outlook on things. (...) I kept adding information [to what I already had] and [hATTR-PN and the possibility of developing it] was something that became natural. Participants (such as P12 and P5) also stated that they used social strategies (e.g. seeking support from significant others or avoiding talking about the disease outside the context of these people) to deal with the psychosocial impacts experienced or anticipated to be associated with hATTR-PN. P12: My mother clarified my doubts whenever I asked. Sometimes I wondered whether I might have the disease or not, what the future might be like, and my mother answered these questions. [She] helped me to face [hATTR-PN] in a positive way. P5: [There are people who] always have that idea of "You've got that disease, you poor thing." That's why there's so much of that... trying to hide it, trying to let a small circle of people know about the disease, because otherwise there will be that prejudice, that stigma. (...) [With the PST, the challenge is] dealing with people, being afraid that [they] will find out or know [about the family disease]. 3.4 Need-Supportive Contexts The support perceived by the participants for their psychosocial needs was influenced by different communication dynamics in their family contexts, as exemplified by excerpts from P11 and P10. P11: In my family, there is a very open view [about hATTR-PN]. (...) I was never pressured [by them] to do [the PST], they simply thought it was better for me to do it. (...) I live [the disease] with my family, I talk about it with my family, we live it like family. So, it belongs to everyone. P10: The part of the family that might be carriers view [hATTR-PN] with contempt. They prefer to ignore the subject. (...) There's a dilemma here. (...) I already know my parents' and sister's opinion [about doing the PST]. I already knew that their opinion was that I shouldn't do it. And my boyfriend also thinks that maybe there's nothing to be gained from doing it, but he respects my decision. Participants (e.g., P11) also considered genetic counseling to be a context of psychoeducational support for families affected by hATTR-PN, not only because it raises awareness of the disease, but also because of its role in supporting autonomy in carrying out the PST. P11: This journey [made at the CGPP when the PST was carried out], both in terms of information and psychological support, is beneficial [for the decision to carry out the test]. (...) The fact that we talk about this makes us more aware of the influence that screening and being diagnosed as positive [i.e. carrier] or negative [i.e. non-carrier of hATTR-PN] have. 4 Discussion This study, the first to report specificities of the psychosocial experience stated by young Portuguese adults at genetic risk for hATTR-PN, extends previous scientific evidence on the experience of members of families with the disease (e.g., González-Moreno et al. 2021; Lopes, Sousa et al. 2018 ; Magliano et al. 2021 ). 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). For the young adults interviewed, it was mainly during their family experience with the disease that psychological representations of hATTR-PN were developed, as already reported in other studies (e.g., Leite et al. 2016 ; Leite, Leite et al. 2017 ; Mendes et al. 2017 ). Specifically, participants expressed having known the characteristics of the disease and its consequences through family experience with relatives affected by hATTR-PN, as previously described by Leite, Leite et al. ( 2017 ) and Lopes, Sousa et al. ( 2018 ). Nevertheless, there were young adults who overestimated the perceived risk in relation to the actual 50% risk of having or not having any of the genetic variants associated with the disease. Although, according to the results presented by Leite, Dinis et al. ( 2017a ), it may be mainly older adults who show an increased perception of risk compared to younger adults, it cannot be ruled out that young adults may also build beliefs about an increased individual probability of developing hATTR-PN. In fact, different experiences of family illness (e.g., the way in which the disease developed or not in the family, or the existence or not of losses related to hATTR-PN) and the reflections they gave rise to also seem to have influenced the development of beliefs and mental representations on the part of the young adults interviewed, because, despite this being a developmental period particularly focused on establishing their autonomy from their parents and exploring their identity (Willoughby et al. 2022 ), the family continues to be the main source of knowledge and learning about hATTR-PN (Leite et al. 2016 ; Paneque et al. 2019 ). It was also during their family experience with the disease that certain young adults interviewed said they had developed perceptions of social stigma associated with hATTR-PN, which can affect crucial choices characteristic of this period of life (e.g., about their love/reproductive and professional life; Willoughby et al. 2022 ), a result previously reported by Mendes et al. ( 2017 ). The experience of the family illness also had a psychosocial impact on the young adults interviewed. Specifically, monitoring the development and respective consequences (e.g., social stigma) of hATTR-PN in the family, as well as experiencing the process of carrying out the PST, gave rise to episodes of suffering and anxiety in participants in this research, which is in line with what has already been reported in other studies (e.g., Lopes, Sousa et al. 2018 ; Matos and Carvalho 2015 ; Mendes et al. 2017 ). Particularly, as well as having to live with the anguish of being uncertain whether they have the disease or not (which in it-self can affect the exploration of identity characteristic of young adults; Willoughby et al. 2022 ), some participants reported feeling that their family exercised some control over their decision-making regarding PST, a result already described by Matos and Carvalho ( 2015 ). Although older generations can play roles in promoting health and managing genetic risks in relation to younger generations (Oliveira et al. 2017a , b , 2021 ) and this can be assumed to be a protective factor in families with hATTR-PN (Lopes, Rodrigues et al. 2018 ), attempts by family members to control the individual choices of young adults can add psychosocial impacts to a developmental period generally marked by a growing autonomization of decision-making based on the interests and preferences of these younger individuals (Willoughby et al. 2022 ). Nevertheless, the emotional and relational impacts of the possible results of the PST, anticipated by young adults in this study, can influence changes in family dynamics and communication patterns (Lopes, Rodrigues et al. 2018 ; Matos and Carvalho 2015 ) and the development of perspectives on future life projects (Lopes, Sousa et al. 2018 ; Matos and Carvalho 2015 ) characteristic of this developmental stage, adding new challenges to an already unstable time of life (i.e. where there are often changes in love partners, jobs, educational directions, and living arrangements; Willoughby et al. 2022 ). Even so, and also in line with certain discourses of the young adults interviewed, a healthy adaptation to a carrier or non-carrier result of hATTR-PN (Lêdo et al. 2013 ; Matos and Carvalho 2015 ), as well as a balanced functioning of families with the disease (Lopes, Rodrigues et al. 2018 ) are possible. However, reduced impacts of the psychosocial experience with hATTR-PN, such as those already reported by Matos and Carvalho ( 2015 ) and others exemplified in the discourse of a young adult in this study who is a member of a family with late onset of the disease (viz., P5), may pose additional challenges to clinical practice with this population (Inês et al. 2018 ). Specifically, based on Rolland and Williams ( 2005 ) and taking into account the increase in the average age of onset and the representativeness of patients with a late-onset hATTR-PN in Portugal (Inês et al. 2018 ), the diminutive multigenerational experience with the disease in individuals belonging to these families (compared to the traditional life trajectories associated with hATTR-PN in the country; Lopes, Sousa et al. 2018 ) may translate into a lack of information related to genetic risk and its associated psychosocial implications, causing them to be less concerned about the disease and, therefore, a possible more accentuated future emotional transition as they become aware of this data with a predictable impact on their developmental tasks. In view of the impacts experienced and anticipated, PST was the strategy favored by the young adults in this study to deal with the emotional and relational challenges associated with their genetic risk status for hATTR-PN, which is in line with what was reported by Leite, Dinis et al. ( 2017b ) and Matos and Carvalho ( 2015 ). More specifically, while the completion of the PST can be a resource in the very exploration of the typical identity of young adults (which includes planning crucial choices about their love/reproductive and professional lives; Leite, Dinis et al. 2017b ; Matos and Carvalho 2015 ; Willoughby et al. 2022 ), a PST result can define the sense of mastery in coping with a disease with treatment possibilities (Leite, Dinis et al. 2017b ; Matos and Carvalho 2015 ; Rolland 2012 ), corroborating discourses of participants in this research. In line with what was reported by Leite et al. ( 2016 ) and Leite, Leite et al. ( 2017 ), the psychosocial experience of participants in this study is also characterized by the use of other strategies, such as those focused on emotion, meaning and seeking social support (viz., in the three vital interaction systems of young adults: parents, friends and romantic partners; Willoughby et al. 2022 ). To optimize well-being, regulating negative emotions associated with hATTR-PN, creating meanings that support the feeling of mastery and competence, and seeking emotional or instrumental support (viz., from significant vs. non-significant people), for example, can be crucial adaptive tasks in the face of the psychosocial impacts related to living with the disease (Moos 1984 ; Rolland 2012 ; Rolland and Williams 2005 ). Even so, as Rolland ( 2012 ) and Rolland and Williams ( 2005 ) have already postulated, it is the quality of the fit between the psychosocial challenges caused by hATTR-PN, on the one hand, and the functioning and resources of the support contexts, on the other, that may determine successful versus dysfunctional coping and adaptation to the disease. By the way, and according to the discourses of the young adults interviewed, the perceived support for their needs provided by social contexts influenced their own psychosocial experience with hATTR-PN. Specifically, different family communication dynamics seemed to affect the support perceived by certain participants to respond to a disease that is understood as familial and intergenerational (Rolland 2012 ; Rolland and Williams 2005 ). Bearing in mind that the family plays a vital support role in the various stages of adaptation to genetic risk and the disease, the experience with hATTR-PN can be influenced by the way in which the family context: (a) transmits the experiences of confronting and managing the disease; (b) facilitates or hinders the passage of and access to information about hATTR-PN; (c) encourages or discourages the implementation of risk management measures, early detection and treatment; and (d) provides emotional and instrumental support (Oliveira et al. 2017a , b , 2021 ). Following the results presented by Oliveira et al. ( 2017a , b , 2021 ), it is then possible that these family dynamics may, in turn, affect the way young adults become aware of the disease and cope with it (e.g. whether they carry out PST or not), influencing the very exploration of identity characteristic of this developmental period (Willoughby et al. 2022 ). Nevertheless, in a phase marked by active consideration of PST and, according to Willoughby et al. ( 2022 ), by increasing autonomy in the decision-making process, genetic counseling, as a psychoeducational support context, can help adjust the young adult population's awareness of hATTR-PN. In line with the discourses of the participants in this study, the psychoeducation provided throughout the PST process can, in fact, translate into a vital approach to mitigating possible maladaptive impacts associated with the test results. Thus, given that a central task of this phase of the process is to consider, on the one hand, the impact that the autonomous decision to carry out the PST can have on the various family members and, on the other hand, the family dynamics that can affect adjustment, it is up to genetic counseling professionals to guide families (and, particularly, young adult members) in this process by providing a psychosocial understanding of the disease in practical, emotional and longitudinal terms (Lopes, Sousa et al. 2018 ; Rolland 2012 ; Rolland and Williams 2005 ). Specifically, and following Rolland and Williams' (2005) postulate, genetic counseling professionals can not only help young adults at risk for hATTR-PN in communication processes, decision-making and the development of contingency plans associated with their developmental tasks (viz., those related to their love/reproductive and professional lives), but also help the members of these families to acquire a common understanding of the biopsychosocial aspects of the disease, facilitating family communication more focused on coping strategies and adaptation to genetic risk and hATTR-PN. 4.1 Strengths and limitations The results reported in this study, which contribute to filling gaps in scientific evidence on the psychosocial experience with hATTR-PN in a population with unique developmental characteristics (Willoughby et al. 2022 ), should be carefully read and interpreted due to the presence of limitations inherent to research practice. Although, following the recommendations of Creswell and Creswell ( 2018 ) and Gibbs ( 2007 ), various validity and reliability procedures have been implemented in order to ensure the methodological integrity of the data, subsequent studies may incorporate additional analytical processes (e.g., conducting follow-up interviews with study participants and providing them with an opportunity to comment on the results, as well as introducing intercoder agreement processes), further strengthening the validity and reliability of their findings. Since the purpose of this research is restricted to the specific description of the psychosocial experience of young Portuguese adults at genetic risk for hATTR-PN in a particular spatiotemporal context, readers should bear this in mind when considering the transferability of these results to other populations, diseases, and contexts. Nevertheless, it should be borne in mind that the sample studied included only young adults who underwent PST at the CGPP (excluding individuals with severe cognitive impairment), so further research could verify the generalizability of the data reported to the population of young Portuguese adults at genetic risk for hATTR-PN in general and in other countries. 4.2 Implications This study has implications for the development of future research, policies, and practices. Firstly, an in-depth study on the psychosocial experience of members of Portuguese families with late-onset hATTR-PN can help extend the evidence reported in this research, filling gaps, and optimizing the health services that support these people in the context of genetic counseling. Secondly, strengthening the implementation of collaborative policies between local health services and associations of people with hATTR-PN can help to enhance the important work of these groups in providing psychosocial support to patients and their families. Thirdly, this study provides clues that can contribute to optimizing the practice of genetic counseling with young adults, namely by considering the developmental tasks and specific psychosocial needs of this population in a biopsychosocial intervention process. For example, psychoeducational or support groups can be designed to meet the needs of young adults at risk for hATTR-PN in coping with the various forms and stages of the disease, empowering these individuals for the psychosocial challenges of the illness and preventing risks of maladaptation to PST results. 5 Conclusion This study reports the first in-depth description of the psychosocial experience of young Portuguese adults at genetic risk for hATTR-PN. Given that the young adult population has been reported as the one most affected by the disease in Portugal, this research can provide important data to optimize genetic counseling practices and health policies that respond to the needs of this population, which presents qualitatively different characteristics and developmental tasks from other periods of the life cycle. Nevertheless, the context of an increase in the average age of onset and the representativeness of patients with a late-onset hATTR-PN in the country may pose additional complex challenges for families with the disease (and the young adults who are part of them) as well as for health systems, reinforcing the importance of continuing to deepen our understanding of the psychosocial experience of these individuals and families with a view to improving the clinical response. Declarations Acknowledgements The authors wish to thank Dr. Milaydis Sosa Napolskij for their kind assistance in the linguistic review of the article. Author Contributions J.D.P., M.P. and Á.M. contributed to the study conception and design. Material preparation was performed by J.D.P., C.C., A.S., M.P., and Á.M. Data collection and analysis were performed by J.D.P. The first draft of the manuscript was written by J.D.P. and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. Conflict of Interest J.D.P. has received a doctoral grant attributed by the Fundação para a Ciência e a Tecnologia (reference codes: SFRH/BD/138012/2018 and COVID/BD/153242/2023), which was financial supported by the Fundação para a Ciência 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). C.C. has received a PhD scholarship by the Fundação para a Ciência e a Tecnologia (reference code: SFRH/BD/145679/2019). Á.M. acknowledges funding from the Fundação para a Ciência e a Tecnologia (CEECIND/02615/2017). J.S. is the founder director of the Centre for Predictive and Preventive Genetics. A.S., M.S.L. and M.P. declare that they have no conflict of interest. Competing Interests The authors declare no competing interests. Ethics Approval This study, which is part of J.D.P.’s doctoral research on the psychological experience of Portuguese families with hATTR-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). Consent to Participate Informed consent was obtained from all individual participants included in the study. Data Transparency J.D.P., C.C., A.S., M.S.L., J.S., M.P. and Á.M. declare that all data support their published claims and comply with field standards. Data Availability The participants in this study did not give consent for their data to be shared publicly, so supporting data is not available. References Adams D, Koike H, Slama M, Coelho T (2019) Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol 15:387-404. https://doi.org/10.1038/s41582-019-0210-4 Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G (2021) Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol 268:2109-2122. https://doi.org/10.1007/s00415-019-09688-0 Arnett JJ (2000) Emerging adulthood: a theory of development from the late teens through the twenties. 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Lancet 341:1113-1116. https://doi.org/10.1016/0140-6736(93)93127-m Inês M, Coelho T, Conceição I, Duarte-Ramos F, de Carvalho M, Costa J (2018) Epidemiology of transthyretin familial amyloid polyneuropathy in Portugal: a nationwide study. Neuroepidemiology 51:177-182. https://doi.org/10.1159/000490553 Lêdo S, Paneque M, Rocha J, Leite Â, Sequeiros J (2013) Predictive testing for two neurodegenerative disorders (FAP and HD): a psychological point of view. Open Journal of Genetics 3:270-279. https://doi.org/10.4236/ojgen.2013.34030 Leite Â, Dinis MAP, Sequeiros J, Paúl C (2016) Subjects at-risk for genetic diseases in Portugal: illness representations. J Genet Counsel, 25:79-89. https://doi.org/10.1007/s10897-015-9846-4 Leite Â, Dinis MAP, Sequeiros J, Paúl C (2017a) Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases. Psychology, Health & Medicine 22:244-249. https://doi.org/10.1080/13548506.2016.1159704 Leite Â, Dinis MAP, Sequeiros J, Paúl C (2017b) Motivation to perform presymptomatic testing in Portuguese subjects at-risk for late-onset genetic diseases. Interdisciplinaria Revista de Psicología y Ciencias Afines 34:125-140. http://dx.doi.org/10.16888/interd.2017.34.1.8 Leite Â, Leite F, Dinis MAP (2017) Subjects at risk for genetic late-onset neurological diseases: objective knowledge. Public Health Genomics 20:158-165. https://doi.org/10.1159/000479292 Lopes A, Rodrigues C, Fonseca I, Sousa A, Branco M, Coelho T, Sequeiros J, Freitas P (2018) Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: does genetic risk affect family functioning? Clin Genet 94:401-408. https://doi.org/10.1111/cge.13416 Lopes A, Sousa A, Fonseca I, Branco M, Rodrigues C, Coelho T, Sequeiros J, Freitas P (2018) Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study. J Community Genet 9:93-99. https://doi.org/10.1007/s12687-017-0338-0 Magliano L, Obici L, Sforzini C, Mazzeo A, Russo M, Cappelli F, Fenu S, Luigetti M, Tagliapietra M, Gemelli C, Leonardi L, Tozza S, Pradotto LG, Citarelli G, Mauro A, Manganelli F, Antonini G, Grandis M, Fabrizi GM, Sabatelli M, Pareyson D, Perfetto F, Merlini G, Vita G, ATTRv Collaborators (2021) Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy. Orphanet J Rare Dis 16:163. https://doi.org/10.1186/s13023-021-01812-6 Matos C, Carvalho IP (2015) O impacto do gene - Como vivenciam os portadores assintomáticos da paramiloidose a notícia do resultado do teste genético. Sinapse 15:5-12 Mendes Á, Sousa L, Sequeiros J, Clarke A (2017) Discredited legacy: stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science & Medicine 182:73-80. https://doi.org/10.1016/j.socscimed.2017.04.026 Moos RH (ed) (1984) Coping with physical illness 2: new perspectives. Plenum, New York Obici L, Kuks JB, Buades J, Adams D, Suhr OB, Coelho T, Kyriakides T, European Network for TTR-FAP (ATTReuNET) (2016) Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Current Opinion in Neurology 29:S27–S35. https://doi.org/10.1097/WCO.0000000000000290 Oliveira CR, Mendes Á, Sousa L (2017a) From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy. Eur J Hum Genet 25:687-693. https://doi.org/10.1038/ejhg.2017.40 Oliveira CR, Mendes Á, Sousa L (2017b) Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos. Cadernos de Saúde Pública 33:e00185515. https://doi.org/10.1590/0102-311X00185515 Oliveira CR, Mendes Á, Sousa L (2021) Impacto dos papéis dos mais velhos na promoção da saúde em famílias com paramiloidose. PSICOLOGIA 35:17-26. https://doi.org/10.17575/psicologia.v35i2.1732 Paneque M, Félix J, Mendes Á, Lemos C, Lêdo S, Silva J, Sequeiros J (2019) Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal. Acta Med Port 32:295-304. https://doi.org/10.20344/amp.10526 Parman Y, Adams D, Obici L, Galán L, Guergueltcheva V, Suhr OB, Coelho T, European Network for TTR-FAP (ATTReuNET) (2016) Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Current Opinion in Neurology 29:S3-S13. https://doi.org/10.1097/WCO.0000000000000288 Rolland JS (2012) Mastering family challenges in serious illness and disability. In: Walsh F (ed) Normal family processes: growing diversity and complexity, 4th edn. The Guilford Press, New York, pp 452-482 Rolland JS, Williams JK (2005) Toward a biopsychosocial model for 21st-century genetics. Family Process 44:3-24. https://doi.org/10.1111/j.1545-5300.2005.00039.x Schmidt HH, Waddington-Cruz M, Botteman MF, Carter JA, Chopra AS, Hopps M, Stewart M, Fallet S, Amass L (2018) Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle & Nerve 57:829-837. https://doi.org/10.1002/mus.26034 Sequeiros J (1996) Protocolo geral do programa nacional de teste preditivo e aconselhamento genético na doença de Machado-Joseph. In: Sequeiros J (ed) O teste preditivo da doença de Machado-Joseph. UnIGENe, IBMC, Porto, pp 97-112 Tesch R (1990) Qualitative research: analysis types and software tools. Falmer, New York Willoughby BJ, Augustus RA, Arnett JJ (2022) Communication during emerging adulthood. In: Vangelisti AL (ed) The Routledge handbook of family communication, 3rd edn. Routledge, London & New York, pp 262-276. http://dx.doi.org/10.4324/9781003043423-23 Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Editorial decision: Revision requested 07 Jun, 2024 Reviews received at journal 30 May, 2024 Reviewers agreed at journal 08 May, 2024 Reviews received at journal 14 Apr, 2024 Reviewers agreed at journal 03 Apr, 2024 Reviewers invited by journal 03 Apr, 2024 Submission checks completed at journal 02 Apr, 2024 Editor assigned by journal 02 Apr, 2024 First submitted to journal 28 Mar, 2024 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-4183211","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":287862520,"identity":"a6b00fbc-66f7-44f6-8489-c3655bf4532e","order_by":0,"name":"José D. Pereira","email":"data:image/png;base64,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","orcid":"","institution":"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","correspondingAuthor":true,"prefix":"","firstName":"José","middleName":"D.","lastName":"Pereira","suffix":""},{"id":287862521,"identity":"ac95ce5f-72d6-4682-86c0-e4b21f1bd237","order_by":1,"name":"Catarina Costa","email":"","orcid":"","institution":"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","correspondingAuthor":false,"prefix":"","firstName":"Catarina","middleName":"","lastName":"Costa","suffix":""},{"id":287862522,"identity":"08e151c4-ade9-426b-abc3-c287885b5b0a","order_by":2,"name":"Andreia Santos","email":"","orcid":"","institution":"Associação de Solidariedade Social “O Tecto”, Vila do Conde, Porto","correspondingAuthor":false,"prefix":"","firstName":"Andreia","middleName":"","lastName":"Santos","suffix":""},{"id":287862523,"identity":"26d6ee2f-0ae3-4c47-8e91-6dd4ef1c883b","order_by":3,"name":"Marina S. 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Prevalent worldwide, it is considered endemic in several regions, such as Portugal (Schmidt et al. \u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). hATTR-PN is an autosomal dominant disease caused by the accumulation of amyloidogenic transthyretin in organs and tissues (Adams et al. \u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e2019\u003c/span\u003e), which is mainly the result of the presence of the Val30Met variant (Parman et al. \u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e2016\u003c/span\u003e) in the \u003cem\u003eTTR\u003c/em\u003e gene (Adams et al. \u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e2019\u003c/span\u003e). Associated with this variant, and despite traditionally being thought of as an early-onset disease (\u0026lt;\u0026thinsp;50 years) in Portugal (Adams et al. \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2021\u003c/span\u003e), In\u0026ecirc;s et al. (\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e2018\u003c/span\u003e) reported a significant increase in the average age of onset and an increase in the representation of patients with late-onset hATTR-PN (\u0026ge;\u0026thinsp;50 years) in the country. In any case, to prevent the disease from progressing to death, patients diagnosed with hATTR-PN may benefit from the early use of disease-modifying therapies (Holmgren et al. \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e1993\u003c/span\u003e; Bulawa et al. \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e2012\u003c/span\u003e; Gorevic et al. \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e2021\u003c/span\u003e). On the other hand, genetic counseling is recommended for family members of people affected by hATTR-PN (Obici et al. \u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e2016\u003c/span\u003e). Within this scope, a Portuguese protocol for genetic counseling in the context of presymptomatic testing (PST) was implemented in 1995 at the Centre for Predictive and Preventive Genetics (CGPP), a clinical unit of a research institute at the University of Porto. The protocol can be offered to people at 50% risk for hATTR-PN to predict their chances of developing the disease in the future and includes: (a) a pre-test neurological examination, a psychosocial assessment and at least two genetic counseling sessions; (b) a PST results dissemination session; and (c) a psychosocial follow-up at 3 weeks, at 6 months and a year after the results (Sequeiros \u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e1996\u003c/span\u003e). In a retrospective study collecting data from the clinical files of users who requested PST over the first 20 years of the CGPP (i.e. between 1996 and 2015), Paneque et al. (\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e2019\u003c/span\u003e) reported that individuals at risk for hATTR-PN were the youngest group and those with a highest request rate of PST, which can be principally explained by the fact that the disease mainly affects young adults in Portugal (In\u0026ecirc;s et al. \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e2018\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eYoung adulthood, defined by Arnett (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e2000\u003c/span\u003e, \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e2007\u003c/span\u003e) as the developmental period between the ages of 18 and 29, represents a unique moment in the life course in terms of the content, quality, and mediums of communication with family, friends, and romantic partners. Specifically, young adults are in a period of life marked by: (a) identity explorations (which involve crucial decision-making processes related to their love and professional lives), (b) changes in love partners, jobs, educational directions, and living arrangements; (c) an independent decision-making; (d) an ambiguous feeling related to their developmental definition between the periods of adolescence and adulthood; and (e) optimism about the future (Willoughby et al., \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). These characteristics, while not exclusive to young adulthood, reach their peak in this period, which can be impacted by additional challenges related to the psychosocial experience of hATTR-PN.\u003c/p\u003e \u003cp\u003eStudies (e.g., Gonz\u0026aacute;lez-Moreno et al. 2021; Lopes, Sousa et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Magliano et al. \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2021\u003c/span\u003e) have contributed to a better understanding of the psychosocial experience of hATTR-PN and its implications for the lives of members of families with the disease. Specifically, the family has been considered by these individuals as the main source of knowledge and learning about hATTR-PN (Leite et al. \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2016\u003c/span\u003e; Paneque et al. \u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e2019\u003c/span\u003e), so it is inevitable that the psychological representations (e.g., beliefs, mental representations, and social perceptions) constructed about the disease are related to their family experience (Leite, Dinis et al. \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e2017a\u003c/span\u003e; Leite, Leite et al. \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2017\u003c/span\u003e; Mendes et al. \u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e2017\u003c/span\u003e). Additionally, although certain studies (e.g., L\u0026ecirc;do et al. \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e2013\u003c/span\u003e; Lopes, Rodrigues et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Matos and Carvalho \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e) have reported healthy adaptations to PST results and balanced functioning in families with hATTR-PN, scientific evidence (e.g., Lopes, Rodrigues et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Lopes, Sousa et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Matos and Carvalho \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e) has mainly reported that the experience with the disease generates psychosocial impacts. Various strategies have been described by members of families with this type of disease as they deal with these impacts (e.g., Leite, Dinis et al. \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e2017b\u003c/span\u003e; Leite, Leite et al. \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2017\u003c/span\u003e; Moos \u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e1984\u003c/span\u003e), including carrying out PST, regulating negative emotions associated with hATTR-PN, constructing meanings that make it possible to manage the situation, and seeking social support. Even so, successful versus dysfunctional coping and adaptation to hATTR-PN can be influenced both by the way the family models (behaviors), encourages, informs and supports its members (Oliveira et al. \u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e2017a\u003c/span\u003e, \u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003eb\u003c/span\u003e, \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2021\u003c/span\u003e) and by the role that genetic counseling, as a psychoeducational support context, can play in the process of guiding families with the disease (Lopes, Sousa et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Rolland \u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2012\u003c/span\u003e; Rolland and Williams \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2005\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThus, despite the extensive literature on the psychosocial experience of members of families with hATTR-PN, few studies consider the specific developmental characteristics and tasks of young adulthood in relation to other stages of the life cycle. Consequently, given that young adults has been the most affected by the disease in Portugal and that individuals at risk for hATTR-PN were the youngest group and those with a highest request rate of PST at the CGPP between 1996 and 2015, a research that addresses the psychosocial experience of young Portuguese adults at genetic risk for the disease could contribute to a better understanding of the topic and, subsequently, optimize genetic counseling practices and health policies that respond to the psychosocial needs of this population. Therefore, this study aims to fill this research gap by exploring the psychosocial experience of young Portuguese adults at genetic risk for hATTR-PN, specifying developmental peculiarities of their experience with the familial disease and with the PST process itself, a topic not yet reported in this population, to the best of our knowledge.\u003c/p\u003e"},{"header":"2 Method","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003e2.1 Study Design\u003c/h2\u003e \u003cp\u003eBased on a constructivist worldview, this phenomenological research followed a qualitative approach by conducting interviews and qualitative data analysis processes suggested by Creswell and Creswell (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e2018\u003c/span\u003e) and Tesch (\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e1990\u003c/span\u003e). This study design was selected to explore and understand the multiple meanings of the psychosocial experience of young adults at risk for hATTR-PN, providing results with methodological integrity.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec4\" class=\"Section2\"\u003e \u003ch2\u003e2.2 Participants\u003c/h2\u003e \u003cp\u003eParticipants were recruited from individuals who had undergone PST for hATTR-PN at the CGPP. When receiving these people for consultation at the center, the clinical secretary shared informational materials about the study and its objectives. Those who showed an interest in participating were approached in person or by telephone by J.D.P. to clarify any doubts about the research and to schedule the interviews. The convenience sampling method was used to select the participants who were young Portuguese adults aged 18 to 29 at risk for hATTR-PN and expressed their consent to participate. Individuals with severe cognitive impairment were excluded.\u003c/p\u003e \u003cp\u003eThe mean age of the participants was 21.25 years (\u003cem\u003eSD\u003c/em\u003e\u0026thinsp;=\u0026thinsp;3.02). All participants were of European ethnic origin, single, living in the northwest region of Portugal and undergoing the PST protocol due to their genetic risk for hATTR-PN. Additional sociodemographic information about the participants is described in Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eParticipants' sociodemographic information.\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"4\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSociodemographic characteristics\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u003cem\u003en\u003c/em\u003e\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003e%\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eExamples of participants\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSex\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colspan=\"2\" nameend=\"c3\" namest=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e10\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e62.5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1, 2, 8, 9, 10, 11, e 12\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e37.5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e5, 7, e 15\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAge (in years)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colspan=\"2\" nameend=\"c3\" namest=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e18\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e18.75\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1, 2, e 12\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e19\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e18.75\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e15\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e20\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6.25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e7\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e21\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e18.75\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e11\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e22\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6.25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e23\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e12.5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e5 e 9\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e24\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6.25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6.25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e29\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6.25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e10\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eEducation\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colspan=\"2\" nameend=\"c3\" namest=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBasic education\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e7 e 12\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSecondary education\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e37.5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1, 2, 8, 11, e 15\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eHigher education\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e37.5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e5, 9, e 10\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eOccupational status\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colspan=\"2\" nameend=\"c3\" namest=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eActive\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e15\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e93.75\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1, 2, 5, 7, 8, 9, 10, 11, 12, e 15\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eInactive\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6.25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSex of the parent diagnosed or at risk\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colspan=\"2\" nameend=\"c3\" namest=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e50\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e2, 5, e 9\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e50\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1, 7, 8, 10, 11, 12, e 15\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eStatus of the parent diagnosed or at risk\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colspan=\"2\" nameend=\"c3\" namest=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eLiving without symptoms\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e5 e 10\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eLiving with symptoms\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e10\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e62.5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1, 7, 8, 9, 11, 12, e 15\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eDeceased\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e12.5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNumber of participants' siblings\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colspan=\"2\" nameend=\"c3\" namest=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e25\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1, 5, 8, e 11\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e1 or more\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e12\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e75\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e2, 7, 9, 10, 12, e 15\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec5\" class=\"Section2\"\u003e \u003ch2\u003e2.3 Procedure\u003c/h2\u003e \u003cp\u003eAs part of a broader research project that began in 2016 on the psychosocial experience of Portuguese families with hATTR-PN, this research involved 13 face-to-face interviews conducted in a private room at the CGPP and three telephone interviews using the CGPP's landline until saturation of the data relevant to the topic under study was reached, as postulated by Charmaz (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e2006\u003c/span\u003e). The semi-structured individual interviews, conducted by J.D.P. throughout the PST protocol and before each participant's test result disclosure session, included collecting sociodemographic and other disease-related information, followed by open and closed questions about the psychosocial experience of being at risk for hATTR-PN. More specifically, they covered topics such as motivation to take the PST (e.g., feelings, expectations, the value of genetic information, as well as personal and family involvement with taking the test), psychosocial impacts of hATTR-PN (e.g., perceptions of health and illness, as well as adaptation to family disease), the experience of talking to family members and health professionals about test results or genetic risks more broadly, and psychosocial needs (e.g., support). When other issues that emerged as salient were explored, the interviewer encouraged participants to clarify and elaborate on their arguments. The interviews lasted between 19 and 62 min, with an average time of 41 min.\u003c/p\u003e \u003cp\u003e \u003cstrong\u003eInformed consent\u003c/strong\u003e \u003cp\u003ewas obtained from all the participants included in the study. All identifying information was removed from the transcripts by assigning identification codes to the participants. This action sought to ensure the confidentiality and anonymity of the data. The codes, which included the participant's unique number (e.g., P1), are used in the \u003cspan refid=\"Sec7\" class=\"InternalRef\"\u003eFindings\u003c/span\u003e section to identify the source of the quotes. This research was approved by the Committee for Ethical and Responsible Conduct of Research of the Institute for Research and Innovation in Health.\u003c/p\u003e \u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec6\" class=\"Section2\"\u003e \u003ch2\u003e2.4 Analysis\u003c/h2\u003e \u003cp\u003e All the interviews were audio-recorded with the consent of the participants and then transcribed verbatim into Portuguese by J.D.P., C.C. and A.S. The transcripts were then analyzed by J.D.P. following the qualitative data analysis process suggested by Creswell and Creswell (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e2018\u003c/span\u003e) as well as specific coding procedures proposed by Tesch (\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e1990\u003c/span\u003e). After organizing and preparing the data for analysis, J.D.P. read all the transcripts and began coding the information to generate themes, which are represented through a narrative passage to convey the analyzed results.\u003c/p\u003e \u003cp\u003eIn order to ensure the production of findings with methodological integrity, multiple validity procedures (viz., triangulation of different participants' perspectives, use of rich and dense descriptions to convey findings, presentation of discrepant information with the general perspective of the participants, spending prolonged time in the field under study, and participation of C.C. and A.S. as peer debriefers) and reliability (viz., verification of transcripts and holding regular meetings between J.D.P., M.P. and \u0026Aacute;.M. to discuss analysis) were incorporated into this research in accordance with the recommendations of Creswell and Creswell (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e2018\u003c/span\u003e), as well as Gibbs (\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e2007\u003c/span\u003e), respectively.\u003c/p\u003e \u003c/div\u003e"},{"header":"3 Findings","content":"\u003cp\u003eThe data analysis suggested that the psychosocial experience of the young adults interviewed is marked by: (a) the development of psychological representations about hATTR-PN, (b) experienced and anticipated psychosocial impacts related to the disease, (c) the use of strategies to deal with these impacts over time, and (d) the perceived and expected support for the participants' needs provided by social contexts. These four themes, represented in Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e, are not mutually exclusive and represent fluid categories.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e \u003ch2\u003e3.1 Psychological Representations\u003c/h2\u003e \u003cp\u003eParticipants (e.g., P2) expressed having developed beliefs, namely about the possibility of developing or not the disease and the factors that can influence this probability, as they experienced hATTR-PN on an individual and family level.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP2: I think I'm going to get [the disease], because my brother has it too. I know that [the likelihood of developing it] is 50%, but it's more likely that I'll have it too.\u003c/em\u003e \u003c/p\u003e \u003cp\u003eThe participants' psychosocial experience with hATTR-PN also led to the development of mental representations influenced by the different experiences of the disease and its consequences in the family context, as exemplified by excerpts from P11 and P5.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP11: [hATTR-PN] isn't something that scares me. I know it can have implications, but I think anyone who is informed and has seen all sides of the disease can think positively. If there is no cure, there are alternative responses that have been successful so far.\u003c/em\u003e \u003c/p\u003e \u003cp\u003e \u003cem\u003eP5: [hATTR-PN] scares me a bit. I've never had much contact with the disease. My grandfather died of it, but I never met him. My mother has [hATTR-PN], but she's 50 and has never had any symptoms. (...) I think [people with the disease] are normal. They just have a different gene.\u003c/em\u003e \u003c/p\u003e \u003cp\u003eParticipants (e.g., P1) also expressed having developed perceptions of social stigma related to hATTR-PN, especially in social contexts with little knowledge of the disease.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP1: My family [thinks] like me, [they look at someone from a family with hATTR-PN as] a normal person. My family knows... Now, in society... sometimes even trying to distance themselves from the person because they have this disease is because they have no idea what [it] is. Because if they knew, maybe they would act in a normal way.\u003c/em\u003e \u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec9\" class=\"Section2\"\u003e \u003ch2\u003e3.2 Psychosocial Impacts\u003c/h2\u003e \u003cp\u003eParticipants (e.g. P12) said they had experienced episodes of suffering and anxiety as they experienced the disease and its consequences in a family context. Nevertheless, they reported experiencing similar emotions associated with carrying out the PST and its possible results, as the excerpt from P9 illustrates.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP12: [Being at genetic risk for hATTR-PN is to experience] the anguish of having or not having the disease and the pressure caused by the family to perform the PST. Sometimes [it's] not being seen in the best light by society. [It's experiencing] the suffering of seeing a father with the disease and everything he's been through [because of it]. I think the accompaniment of all this kills us.\u003c/em\u003e \u003c/p\u003e \u003cp\u003e \u003cem\u003eP9: I feel anxious [about taking the PST]. (...) I'm worried about my mother's [reaction if the PST result is that I'm a carrier] and both my brother's reactions [to the PST result]. It will be more complicated for me to convey to him that I don't have the disease. But I think it will be more difficult for him to digest [knowing] that I have it. It's a feeling... it's going to be ambiguous.\u003c/em\u003e \u003c/p\u003e \u003cp\u003eA possible non-carrier result in PST was anticipated by participants (e.g., P15) as an event that would generate individual and family relief, although a carrier result could produce similar emotions at an individual level due to the reduction in uncertainty associated with the genetic risk for hATTR-PN (as mentioned by P8).\u003c/p\u003e \u003cp\u003e \u003cem\u003eP15: [If the PST result is that I'm not a carrier] and allied to the fact that my brother doesn't have the disease, that breaks a cycle. A cycle that is important to me, but also brings peace to the family.\u003c/em\u003e \u003c/p\u003e \u003cp\u003e \u003cem\u003eP8: [Whatever the PST result] I'll be relieved. I won't think about the 50/50 [chance of having or not having hATTR-PN] anymore.\u003c/em\u003e \u003c/p\u003e \u003cp\u003eHowever, there were participants (e.g., P5) who said they had experienced reduced psychosocial impacts while living with the disease in a family context and reported that they expected similar impacts from the PST.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP5: When I found out I might have [hATTR-PN], I didn't know about it. I tried to get [the PST], but I was never worried about it. (...) My mother never had any symptoms and if the disease appears, it will be late. (...) I know there are treatments [for hATTR-PN], so I don't think there's any reason to worry about that.\u003c/em\u003e \u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec10\" class=\"Section2\"\u003e \u003ch2\u003e3.3 Coping With the Psychosocial Impacts\u003c/h2\u003e \u003cp\u003eParticipants (e.g. P9) expressed using the PST as a means of coping with experienced or anticipated psychosocial impacts associated with hATTR-PN.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP9: I've had enough of living with a question mark behind me. [Taking the PST] is to be sure [whether I'm a carrier of hATTR-PN or not] and to find out about my life. (...) [If the result of the PST is that I'm a carrier] it will give me time to get my head around it and to be more aware and more alert when I have symptoms [of the disease].\u003c/em\u003e \u003c/p\u003e \u003cp\u003eThe use of emotional regulation strategies (e.g., avoidance/distraction, catastrophizing, wishful thinking, rumination, and acceptance/resignation/disinvestment) was also expressed by participants (e.g., P7 and P5) as a resource to mitigate the psychosocial impacts experienced or anticipated in relation to hATTR-PN.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP7: When I'm feeling low, I try to distract myself straight away. (...) I think more about the fact that I'm going to have [a carrier result] to try to manage the response [to the PST result] better. (...) If we don't both have [a carrier result] [i.e. the participant and a friend who also came to do the PST], it's going to be a party all the way home. I'm thinking about that too, of course.\u003c/em\u003e \u003c/p\u003e \u003cp\u003e \u003cem\u003eP5: [When I found out I might have the disease], I was almost always thinking [about it]. But then I didn't spend much time thinking [about hATTR-PN]. If things have to happen, they will. (...) [The disease] is not the end of the world. There are solutions and there will probably be new ones in a few years' time. (...) I'm not attaching too much importance to carrying out the test.\u003c/em\u003e \u003c/p\u003e \u003cp\u003eIn view of the impacts experienced, participants (e.g., P11) also stated that they had given new meanings to hATTR-PN during the genetic risk state.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP11: [When I found out about the disease in the family, it was] a bit scary (...) [Currently, hATTR-PN and the PST] is not something that scares me. (...) Being informed [about the disease] allows me to have a positive outlook on things. (...) I kept adding information [to what I already had] and [hATTR-PN and the possibility of developing it] was something that became natural.\u003c/em\u003e \u003c/p\u003e \u003cp\u003e Participants (such as P12 and P5) also stated that they used social strategies (e.g. seeking support from significant others or avoiding talking about the disease outside the context of these people) to deal with the psychosocial impacts experienced or anticipated to be associated with hATTR-PN.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP12: My mother clarified my doubts whenever I asked. Sometimes I wondered whether I might have the disease or not, what the future might be like, and my mother answered these questions. [She] helped me to face [hATTR-PN] in a positive way.\u003c/em\u003e \u003c/p\u003e \u003cp\u003e \u003cem\u003eP5: [There are people who] always have that idea of \"You've got that disease, you poor thing.\" That's why there's so much of that... trying to hide it, trying to let a small circle of people know about the disease, because otherwise there will be that prejudice, that stigma. (...) [With the PST, the challenge is] dealing with people, being afraid that [they] will find out or know [about the family disease].\u003c/em\u003e \u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec11\" class=\"Section2\"\u003e \u003ch2\u003e3.4 Need-Supportive Contexts\u003c/h2\u003e \u003cp\u003e The support perceived by the participants for their psychosocial needs was influenced by different communication dynamics in their family contexts, as exemplified by excerpts from P11 and P10.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP11: In my family, there is a very open view [about hATTR-PN]. (...) I was never pressured [by them] to do [the PST], they simply thought it was better for me to do it. (...) I live [the disease] with my family, I talk about it with my family, we live it like family. So, it belongs to everyone.\u003c/em\u003e \u003c/p\u003e \u003cp\u003e \u003cem\u003eP10: The part of the family that might be carriers view [hATTR-PN] with contempt. They prefer to ignore the subject. (...) There's a dilemma here. (...) I already know my parents' and sister's opinion [about doing the PST]. I already knew that their opinion was that I shouldn't do it. And my boyfriend also thinks that maybe there's nothing to be gained from doing it, but he respects my decision.\u003c/em\u003e \u003c/p\u003e \u003cp\u003eParticipants (e.g., P11) also considered genetic counseling to be a context of psychoeducational support for families affected by hATTR-PN, not only because it raises awareness of the disease, but also because of its role in supporting autonomy in carrying out the PST.\u003c/p\u003e \u003cp\u003e \u003cem\u003eP11: This journey [made at the CGPP when the PST was carried out], both in terms of information and psychological support, is beneficial [for the decision to carry out the test]. (...) The fact that we talk about this makes us more aware of the influence that screening and being diagnosed as positive [i.e. carrier] or negative [i.e. non-carrier of hATTR-PN] have.\u003c/em\u003e \u003c/p\u003e \u003c/div\u003e"},{"header":"4 Discussion","content":"\u003cp\u003eThis study, the first to report specificities of the psychosocial experience stated by young Portuguese adults at genetic risk for hATTR-PN, extends previous scientific evidence on the experience of members of families with the disease (e.g., Gonz\u0026aacute;lez-Moreno et al. 2021; Lopes, Sousa et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Magliano et al. \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2021\u003c/span\u003e). 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).\u003c/p\u003e \u003cp\u003eFor the young adults interviewed, it was mainly during their family experience with the disease that psychological representations of hATTR-PN were developed, as already reported in other studies (e.g., Leite et al. \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2016\u003c/span\u003e; Leite, Leite et al. \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2017\u003c/span\u003e; Mendes et al. \u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e2017\u003c/span\u003e). Specifically, participants expressed having known the characteristics of the disease and its consequences through family experience with relatives affected by hATTR-PN, as previously described by Leite, Leite et al. (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2017\u003c/span\u003e) and Lopes, Sousa et al. (\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). Nevertheless, there were young adults who overestimated the perceived risk in relation to the actual 50% risk of having or not having any of the genetic variants associated with the disease. Although, according to the results presented by Leite, Dinis et al. (\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e2017a\u003c/span\u003e), it may be mainly older adults who show an increased perception of risk compared to younger adults, it cannot be ruled out that young adults may also build beliefs about an increased individual probability of developing hATTR-PN. In fact, different experiences of family illness (e.g., the way in which the disease developed or not in the family, or the existence or not of losses related to hATTR-PN) and the reflections they gave rise to also seem to have influenced the development of beliefs and mental representations on the part of the young adults interviewed, because, despite this being a developmental period particularly focused on establishing their autonomy from their parents and exploring their identity (Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e), the family continues to be the main source of knowledge and learning about hATTR-PN (Leite et al. \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2016\u003c/span\u003e; Paneque et al. \u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e2019\u003c/span\u003e). It was also during their family experience with the disease that certain young adults interviewed said they had developed perceptions of social stigma associated with hATTR-PN, which can affect crucial choices characteristic of this period of life (e.g., about their love/reproductive and professional life; Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e), a result previously reported by Mendes et al. (\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e2017\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe experience of the family illness also had a psychosocial impact on the young adults interviewed. Specifically, monitoring the development and respective consequences (e.g., social stigma) of hATTR-PN in the family, as well as experiencing the process of carrying out the PST, gave rise to episodes of suffering and anxiety in participants in this research, which is in line with what has already been reported in other studies (e.g., Lopes, Sousa et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Matos and Carvalho \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e; Mendes et al. \u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e2017\u003c/span\u003e). Particularly, as well as having to live with the anguish of being uncertain whether they have the disease or not (which in it-self can affect the exploration of identity characteristic of young adults; Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e), some participants reported feeling that their family exercised some control over their decision-making regarding PST, a result already described by Matos and Carvalho (\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e). Although older generations can play roles in promoting health and managing genetic risks in relation to younger generations (Oliveira et al. \u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e2017a\u003c/span\u003e, \u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003eb\u003c/span\u003e, \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2021\u003c/span\u003e) and this can be assumed to be a protective factor in families with hATTR-PN (Lopes, Rodrigues et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e), attempts by family members to control the individual choices of young adults can add psychosocial impacts to a developmental period generally marked by a growing autonomization of decision-making based on the interests and preferences of these younger individuals (Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). Nevertheless, the emotional and relational impacts of the possible results of the PST, anticipated by young adults in this study, can influence changes in family dynamics and communication patterns (Lopes, Rodrigues et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Matos and Carvalho \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e) and the development of perspectives on future life projects (Lopes, Sousa et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Matos and Carvalho \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e) characteristic of this developmental stage, adding new challenges to an already unstable time of life (i.e. where there are often changes in love partners, jobs, educational directions, and living arrangements; Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). Even so, and also in line with certain discourses of the young adults interviewed, a healthy adaptation to a carrier or non-carrier result of hATTR-PN (L\u0026ecirc;do et al. \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e2013\u003c/span\u003e; Matos and Carvalho \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e), as well as a balanced functioning of families with the disease (Lopes, Rodrigues et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e) are possible. However, reduced impacts of the psychosocial experience with hATTR-PN, such as those already reported by Matos and Carvalho (\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e) and others exemplified in the discourse of a young adult in this study who is a member of a family with late onset of the disease (viz., P5), may pose additional challenges to clinical practice with this population (In\u0026ecirc;s et al. \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). Specifically, based on Rolland and Williams (\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2005\u003c/span\u003e) and taking into account the increase in the average age of onset and the representativeness of patients with a late-onset hATTR-PN in Portugal (In\u0026ecirc;s et al. \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e2018\u003c/span\u003e), the diminutive multigenerational experience with the disease in individuals belonging to these families (compared to the traditional life trajectories associated with hATTR-PN in the country; Lopes, Sousa et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e) may translate into a lack of information related to genetic risk and its associated psychosocial implications, causing them to be less concerned about the disease and, therefore, a possible more accentuated future emotional transition as they become aware of this data with a predictable impact on their developmental tasks.\u003c/p\u003e \u003cp\u003eIn view of the impacts experienced and anticipated, PST was the strategy favored by the young adults in this study to deal with the emotional and relational challenges associated with their genetic risk status for hATTR-PN, which is in line with what was reported by Leite, Dinis et al. (\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e2017b\u003c/span\u003e) and Matos and Carvalho (\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e). More specifically, while the completion of the PST can be a resource in the very exploration of the typical identity of young adults (which includes planning crucial choices about their love/reproductive and professional lives; Leite, Dinis et al. \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e2017b\u003c/span\u003e; Matos and Carvalho \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e; Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e), a PST result can define the sense of mastery in coping with a disease with treatment possibilities (Leite, Dinis et al. \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e2017b\u003c/span\u003e; Matos and Carvalho \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e; Rolland \u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2012\u003c/span\u003e), corroborating discourses of participants in this research. In line with what was reported by Leite et al. (\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2016\u003c/span\u003e) and Leite, Leite et al. (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2017\u003c/span\u003e), the psychosocial experience of participants in this study is also characterized by the use of other strategies, such as those focused on emotion, meaning and seeking social support (viz., in the three vital interaction systems of young adults: parents, friends and romantic partners; Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). To optimize well-being, regulating negative emotions associated with hATTR-PN, creating meanings that support the feeling of mastery and competence, and seeking emotional or instrumental support (viz., from significant vs. non-significant people), for example, can be crucial adaptive tasks in the face of the psychosocial impacts related to living with the disease (Moos \u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e1984\u003c/span\u003e; Rolland \u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2012\u003c/span\u003e; Rolland and Williams \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2005\u003c/span\u003e). Even so, as Rolland (\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2012\u003c/span\u003e) and Rolland and Williams (\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2005\u003c/span\u003e) have already postulated, it is the quality of the fit between the psychosocial challenges caused by hATTR-PN, on the one hand, and the functioning and resources of the support contexts, on the other, that may determine successful versus dysfunctional coping and adaptation to the disease.\u003c/p\u003e \u003cp\u003eBy the way, and according to the discourses of the young adults interviewed, the perceived support for their needs provided by social contexts influenced their own psychosocial experience with hATTR-PN. Specifically, different family communication dynamics seemed to affect the support perceived by certain participants to respond to a disease that is understood as familial and intergenerational (Rolland \u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2012\u003c/span\u003e; Rolland and Williams \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2005\u003c/span\u003e). Bearing in mind that the family plays a vital support role in the various stages of adaptation to genetic risk and the disease, the experience with hATTR-PN can be influenced by the way in which the family context: (a) transmits the experiences of confronting and managing the disease; (b) facilitates or hinders the passage of and access to information about hATTR-PN; (c) encourages or discourages the implementation of risk management measures, early detection and treatment; and (d) provides emotional and instrumental support (Oliveira et al. \u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e2017a\u003c/span\u003e, \u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003eb\u003c/span\u003e, \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2021\u003c/span\u003e). Following the results presented by Oliveira et al. (\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e2017a\u003c/span\u003e, \u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003eb\u003c/span\u003e, \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2021\u003c/span\u003e), it is then possible that these family dynamics may, in turn, affect the way young adults become aware of the disease and cope with it (e.g. whether they carry out PST or not), influencing the very exploration of identity characteristic of this developmental period (Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). Nevertheless, in a phase marked by active consideration of PST and, according to Willoughby et al. (\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e), by increasing autonomy in the decision-making process, genetic counseling, as a psychoeducational support context, can help adjust the young adult population's awareness of hATTR-PN. In line with the discourses of the participants in this study, the psychoeducation provided throughout the PST process can, in fact, translate into a vital approach to mitigating possible maladaptive impacts associated with the test results. Thus, given that a central task of this phase of the process is to consider, on the one hand, the impact that the autonomous decision to carry out the PST can have on the various family members and, on the other hand, the family dynamics that can affect adjustment, it is up to genetic counseling professionals to guide families (and, particularly, young adult members) in this process by providing a psychosocial understanding of the disease in practical, emotional and longitudinal terms (Lopes, Sousa et al. \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Rolland \u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2012\u003c/span\u003e; Rolland and Williams \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2005\u003c/span\u003e). Specifically, and following Rolland and Williams' (2005) postulate, genetic counseling professionals can not only help young adults at risk for hATTR-PN in communication processes, decision-making and the development of contingency plans associated with their developmental tasks (viz., those related to their love/reproductive and professional lives), but also help the members of these families to acquire a common understanding of the biopsychosocial aspects of the disease, facilitating family communication more focused on coping strategies and adaptation to genetic risk and hATTR-PN.\u003c/p\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003e4.1 Strengths and limitations\u003c/h2\u003e \u003cp\u003eThe results reported in this study, which contribute to filling gaps in scientific evidence on the psychosocial experience with hATTR-PN in a population with unique developmental characteristics (Willoughby et al. \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2022\u003c/span\u003e), should be carefully read and interpreted due to the presence of limitations inherent to research practice. Although, following the recommendations of Creswell and Creswell (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e2018\u003c/span\u003e) and Gibbs (\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e2007\u003c/span\u003e), various validity and reliability procedures have been implemented in order to ensure the methodological integrity of the data, subsequent studies may incorporate additional analytical processes (e.g., conducting follow-up interviews with study participants and providing them with an opportunity to comment on the results, as well as introducing intercoder agreement processes), further strengthening the validity and reliability of their findings. Since the purpose of this research is restricted to the specific description of the psychosocial experience of young Portuguese adults at genetic risk for hATTR-PN in a particular spatiotemporal context, readers should bear this in mind when considering the transferability of these results to other populations, diseases, and contexts. Nevertheless, it should be borne in mind that the sample studied included only young adults who underwent PST at the CGPP (excluding individuals with severe cognitive impairment), so further research could verify the generalizability of the data reported to the population of young Portuguese adults at genetic risk for hATTR-PN in general and in other countries.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec14\" class=\"Section2\"\u003e \u003ch2\u003e4.2 Implications\u003c/h2\u003e \u003cp\u003eThis study has implications for the development of future research, policies, and practices. Firstly, an in-depth study on the psychosocial experience of members of Portuguese families with late-onset hATTR-PN can help extend the evidence reported in this research, filling gaps, and optimizing the health services that support these people in the context of genetic counseling. Secondly, strengthening the implementation of collaborative policies between local health services and associations of people with hATTR-PN can help to enhance the important work of these groups in providing psychosocial support to patients and their families. Thirdly, this study provides clues that can contribute to optimizing the practice of genetic counseling with young adults, namely by considering the developmental tasks and specific psychosocial needs of this population in a biopsychosocial intervention process. For example, psychoeducational or support groups can be designed to meet the needs of young adults at risk for hATTR-PN in coping with the various forms and stages of the disease, empowering these individuals for the psychosocial challenges of the illness and preventing risks of maladaptation to PST results.\u003c/p\u003e \u003c/div\u003e"},{"header":"5 Conclusion","content":"\u003cp\u003eThis study reports the first in-depth description of the psychosocial experience of young Portuguese adults at genetic risk for hATTR-PN. Given that the young adult population has been reported as the one most affected by the disease in Portugal, this research can provide important data to optimize genetic counseling practices and health policies that respond to the needs of this population, which presents qualitatively different characteristics and developmental tasks from other periods of the life cycle. Nevertheless, the context of an increase in the average age of onset and the representativeness of patients with a late-onset hATTR-PN in the country may pose additional complex challenges for families with the disease (and the young adults who are part of them) as well as for health systems, reinforcing the importance of continuing to deepen our understanding of the psychosocial experience of these individuals and families with a view to improving the clinical response.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors wish to thank Dr. Milaydis Sosa Napolskij for their kind assistance in the linguistic review of the article.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor Contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eJ.D.P., M.P. and \u0026Aacute;.M. contributed to the study conception and design. Material preparation was performed by J.D.P., C.C., A.S., M.P., and \u0026Aacute;.M. Data collection and analysis were performed by J.D.P. The first draft of the manuscript was written by J.D.P. and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConflict of Interest\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eJ.D.P. has received a doctoral grant attributed by the Funda\u0026ccedil;\u0026atilde;o para a Ci\u0026ecirc;ncia e a Tecnologia (reference codes: SFRH/BD/138012/2018 and COVID/BD/153242/2023), which was financial supported by the Funda\u0026ccedil;\u0026atilde;o para a Ci\u0026ecirc;ncia 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).\u003c/p\u003e\n\u003cp\u003eC.C. has received a PhD scholarship by the Funda\u0026ccedil;\u0026atilde;o para a Ci\u0026ecirc;ncia e a Tecnologia (reference code: SFRH/BD/145679/2019).\u003c/p\u003e\n\u003cp\u003e\u0026Aacute;.M. acknowledges funding from the Funda\u0026ccedil;\u0026atilde;o para a Ci\u0026ecirc;ncia e a Tecnologia (CEECIND/02615/2017).\u003c/p\u003e\n\u003cp\u003eJ.S. is the founder director of the Centre for Predictive and Preventive Genetics.\u003c/p\u003e\n\u003cp\u003eA.S., M.S.L. and M.P. declare that they have no conflict of interest.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting Interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics Approval\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study, which is part of J.D.P.\u0026rsquo;s doctoral research on the psychological experience of Portuguese families with hATTR-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).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent to Participate\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eInformed consent was obtained from all individual participants included in the study.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eData Transparency\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eJ.D.P., C.C., A.S., M.S.L., J.S., M.P. and \u0026Aacute;.M. declare that all data support their published claims and comply with field standards.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eData Availability\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe participants in this study did not give consent for their data to be shared publicly, so supporting data is not available.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eAdams D, Koike H, Slama M, Coelho T (2019) Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. 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In: Walsh F (ed) Normal family processes: growing diversity and complexity, 4th edn. The Guilford Press, New York, pp 452-482\u003c/li\u003e\n\u003cli\u003eRolland JS, Williams JK (2005) Toward a biopsychosocial model for 21st-century genetics. Family Process 44:3-24. https://doi.org/10.1111/j.1545-5300.2005.00039.x\u003c/li\u003e\n\u003cli\u003eSchmidt HH, Waddington-Cruz M, Botteman MF, Carter JA, Chopra AS, Hopps M, Stewart M, Fallet S, Amass L (2018) Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle \u0026amp; Nerve 57:829-837. https://doi.org/10.1002/mus.26034\u003c/li\u003e\n\u003cli\u003eSequeiros J (1996) Protocolo geral do programa nacional de teste preditivo e aconselhamento gen\u0026eacute;tico na doen\u0026ccedil;a de Machado-Joseph. In: Sequeiros J (ed) O teste preditivo da doen\u0026ccedil;a de Machado-Joseph. UnIGENe, IBMC, Porto, pp 97-112\u003c/li\u003e\n\u003cli\u003eTesch R (1990) Qualitative research: analysis types and software tools. Falmer, New York\u003c/li\u003e\n\u003cli\u003eWilloughby BJ, Augustus RA, Arnett JJ (2022) Communication during emerging adulthood. In: Vangelisti AL (ed) The Routledge handbook of family communication, 3rd edn. Routledge, London \u0026amp; New York, pp 262-276. http://dx.doi.org/10.4324/9781003043423-23\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Young Adult, Amyloidosis, Hereditary, Transthyretin-Related, Genetic Counseling, Portugal, Qualitative Research.","lastPublishedDoi":"10.21203/rs.3.rs-4183211/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4183211/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eThis 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.\u003c/p\u003e","manuscriptTitle":"“Living With a Question Mark”: Psychosocial Experience of Portuguese Young Adults at Risk for Hereditary Amyloid Transthyretin Amyloidosis With Polyneuropathy","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-04-08 19:40:46","doi":"10.21203/rs.3.rs-4183211/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2024-06-07T10:51:43+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2024-05-30T15:30:31+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"203983064935335785385888144471417679223","date":"2024-05-08T07:15:14+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2024-04-14T19:40:30+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"ff4d5bfa-6882-4e5c-925d-477e01181a65","date":"2024-04-03T15:02:37+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2024-04-03T09:49:05+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2024-04-02T10:20:46+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2024-04-02T10:20:46+00:00","index":"","fulltext":""},{"type":"submitted","content":"Journal of Community Genetics","date":"2024-03-28T15:13:36+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"c9df9548-6371-4eb1-a097-332391c707f4","owner":[],"postedDate":"April 8th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2024-06-26T12:29:25+00:00","versionOfRecord":[],"versionCreatedAt":"2024-04-08 19:40:46","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-4183211","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4183211","identity":"rs-4183211","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}