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1.
Article in English | MEDLINE | ID: mdl-39023461

ABSTRACT

INTRODUCTION: Parents who use donated gametes or embryos to form their families struggle with telling their children about their genetic origins. We developed the Tool to Empower Parental Telling and Talking (TELL Tool) to support parents in disclosure to their children and an eBook attention control. METHOD: A randomized parallel, two-group, attention-controlled clinical pilot trial was conducted online during COVID-19. Feasibility, acceptability, and preliminary effects among parents with children aged 1-16 years were examined. RESULTS: Over 10 months, our target of 75 parents were enrolled (85% of eligible [95% confidence interval (CI), 76% to 91%]), and 68% (95% CI: 57% to 78%) were retained at 12 weeks. At 4 and 12 weeks, positive trends were found for parental disclosure, telling confidence, and anxiety compared with attention controls. DISCUSSION: The study protocol is feasible, and the TELL Tool is acceptable to parents and demonstrates a positive effect on parents' ability to tell their children. The results support the implementation of a large efficacy trial.

2.
BMC Public Health ; 24(1): 1733, 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38943094

ABSTRACT

BACKGROUND: Childhood obesity is increasingly recognized as a major public health challenge worldwide, and excessive sedentary screen time is emerging as a key risk factor. This study aimed to assess the recreational screen sedentary time of Chinese primary school-aged children and investigate the relationship between screen-related family factors and the outcome variable. METHODS: Our study used data from a cross-sectional survey collected from fifth-grade students and their parents in Beijing, China, from April to May 2018 (n = 2,373). The questions included basic demographic information, family socioeconomic status, students' and parents' sedentary and exercising habits, within-family communicational factors, and health belief patterns. The recreational screen sedentary time of the children was compared across demographic groups. The study employed multivariate linear regression models to examine associations between children's screen time and various family factors, as well as the moderating effect of overall family communication. RESULTS: Our findings revealed an average daily recreational screen sedentary time of 2.4 h among participants. Screen time significantly varied across demographic categories, including children's sex, age, residence, parents' education, household income, family size, and primary family member. After adjustment, the proportion of child-owned digital devices (p < 0.01), child's personal room (p < 0.05), family screen-viewing together (p < 0.01), and parental screen time (p < 0.01) were positively related to children's recreational sedentary screen time. Parental restrictions on screen time (p < 0.001) and attitudes toward reducing sitting time (p < 0.01) were correlated with a decrease in children's screen time. The overall family communication environment significantly moderated the effects of parental practice of restricting children's screen time (p < 0.001), positive reinforcement by parents (p < 0.05), and parents' recreational sedentary screen time (p < 0.001). CONCLUSIONS: Our findings underscored the significance of family dynamics, parental practices, and communication in shaping children's screen time behaviors, providing valuable insights for tailored interventions and strategies to reduce childhood obesity.


Subject(s)
Communication , Screen Time , Sedentary Behavior , Humans , Cross-Sectional Studies , Male , Female , Child , China , Beijing , Parents/psychology , Pediatric Obesity/epidemiology , Surveys and Questionnaires , Exercise
3.
Pediatr Cardiol ; 2024 May 03.
Article in English | MEDLINE | ID: mdl-38700711

ABSTRACT

Parents of children in the pediatric cardiac intensive care unit (CICU) are often unprepared for family meetings (FM). Clinicians often do not follow best practices for communicating with families, adding to distress. An interprofessional team intervention for FM is feasible, acceptable, and positively impacts family preparation and conduct of FM in the CICU. We implemented a family- and team-support intervention for conducting FM and conducted a pretest-posttest study with parents of patients selected for a FM and clinicians. We measured feasibility, fidelity to intervention protocol, and parent acceptability via questionnaire and semi-structured interviews. Clinician behavior in meetings was assessed through semantic content analyses of meeting transcripts tracking elicitation of parental concerns, questions asked of parents, and responses to parental empathic opportunities. Logistic and ordinal logistic regression assessed intervention impact on clinician communication behaviors in meetings comparing pre- and post-intervention data. Sixty parents (95% of approached) were enrolled, with collection of 97% FM and 98% questionnaire data. We accomplished > 85% fidelity to intervention protocol. Most parents (80%) said the preparation worksheet had the right amount of information and felt positive about families receiving this worksheet. Clinicians were more likely to elicit parental concerns (adjusted odds ratio = 3.42; 95%CI [1.13, 11.0]) in post-intervention FM. There were no significant differences in remaining measures. Implementing an interprofessional team intervention to improve family preparation and conduct of FM is locally feasible, acceptable, and changes clinician behaviors. Future research should assess broader impact of training on clinicians, patients, and families.

4.
Fam Cancer ; 23(2): 165-175, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38722431

ABSTRACT

Some patients with metastatic prostate cancer carry a pathogenic germline variant (PV) in a gene, that is mainly associated with an increased risk of breast cancer in women. If they test positive for such a PV, prostate cancer patients are encouraged to disclose the genetic test result to relatives who are at risk in case the carrier status changes the relatives' medical care. Our study aimed to investigate how men who learned they carry a PV in BRCA1, BRCA2, PALB2, CHEK2 or ATM disclosed their carrier status to at-risk relatives and to assess the possible psychological burden for the carrier and their perception of the burden for relatives. In total, 23 men with metastatic prostate cancer carrying a PV completed the IRI questionnaire about family communication; 14 also participated in a semi-structured interview. Patients felt highly confident in discussing the genetic test result with relatives. The diagnosis of prostate cancer was experienced as a burden, whereas being informed about genetic testing results did in most cases not add to this burden. Two patients encountered negative experiences with family communication, as they considered the genetic test result to be more urgent than their relatives. This mixed-methods study shows that metastatic prostate cancer patients with a PV in genes mainly associated with increased risk of breast cancer feel well-equipped to communicate about this predisposition in their families. Carriers felt motivated to disclose their genetic test result to relatives. Most of them indicated that the disclosure was not experienced as a psychological burden.


Subject(s)
Genetic Predisposition to Disease , Genetic Testing , Germ-Line Mutation , Prostatic Neoplasms , Humans , Male , Prostatic Neoplasms/genetics , Prostatic Neoplasms/psychology , Prostatic Neoplasms/pathology , Middle Aged , Aged , Genetic Predisposition to Disease/psychology , BRCA2 Protein/genetics , Disclosure , Fanconi Anemia Complementation Group N Protein/genetics , BRCA1 Protein/genetics , Checkpoint Kinase 2/genetics , Breast Neoplasms/genetics , Breast Neoplasms/psychology , Breast Neoplasms/pathology , Family/psychology , Female , Ataxia Telangiectasia Mutated Proteins/genetics , Adult
5.
Fam Process ; 2024 May 02.
Article in English | MEDLINE | ID: mdl-38697926

ABSTRACT

A gap in research on family interventions is the understanding of long-term effects on hypothesized mechanisms of effect regarding children's processes of responding to family stressors. This study assessed the long-term effects of an intervention designed to improve interparental and family conflict resolution on adolescents' emotional insecurity about interparental conflict. Emotional insecurity about interparental conflict has long been linked with adolescents' risk for adjustment problems. These findings have motivated the development of several family-based preventive interventions, one of which is the focus of this study. A community sample of 225 adolescents and their parents participated in an RCT-based study of an intervention designed to reduce adolescent's emotional insecurity about interparental conflict. The intervention's effect on patterns of change in adolescents', mothers', and fathers' reports of the three components of adolescents' emotional insecurity (emotional reactivity, behavioral dysregulation, and cognitive representations) from posttest through the 3-year follow-up were examined using multilevel modeling. Results suggested that the intervention predicted immediate (pre to posttest) and long-term linear decreases in emotional reactivity, as well as long-term quadratic change in behavioral dysregulation. These findings support the beneficial effects of a brief intervention on multiple components of emotional security. The results also underscore the importance of considering the potential of long-term (including nonlinear) patterns of change that may occur as a function of family-based interventions, as well as that the impact of family-based interventions may vary as a function of reporter and component of emotional insecurity.

6.
Psychol Res Behav Manag ; 17: 1903-1916, 2024.
Article in English | MEDLINE | ID: mdl-38737671

ABSTRACT

Purpose: To explore the relationship between adolescents' problematic Internet use and loneliness and the mediating roles of social support and family communication. Methods: A questionnaire survey of 2483 adolescents aged 12-17 years in 148 cities in China was conducted using the Problematic Internet Use Scale, the Collaborative Social Support Scale, the Family Communication Scale, and the Loneliness Scale. The data were statistically analyzed by SPSS 26.0 and validated by AMOS 28.0. Structural equation modelling (SEM) was conducted to test the effects of problematic Internet use on adolescents' loneliness and the mediating effects of perceptions of social support and family communication. Results: There was a significant positive effect of adolescents' problematic Internet use on loneliness (B-0.471, P<0.001), and the mediating effects of perceptual social support (0.003, 0.012) and family communication (0.008, 0.019) were found to play a chain effect between adolescents' problematic Internet use and loneliness, respectively. Use and feelings of loneliness played a chain mediating role (0.002, 0.006). Conclusion: This study identified the effects of adolescent problematic Internet use on loneliness and its mechanism of action, emphasized the importance of social support and family communication, and provided practical insights for improving family parenting styles and preventing and intervening in adolescent loneliness problems.

7.
BMC Med Inform Decis Mak ; 24(1): 139, 2024 May 27.
Article in English | MEDLINE | ID: mdl-38802921

ABSTRACT

BACKGROUND: Few studies have been conducted on the usage of telehealth focusing on consultations between patients' families and physicians. This study aimed to identify the usage and limitations of online medical consultations with patients' families compared to the traditional in-person consultations. METHODS: We conducted a prospective cohort study from April 1, 2020, to September 30, 2021, at an educational acute-care hospital in Japan. The study included hospitalized patients aged 20 years or older and their family members for whom an online or in-person medical consultation between the family member and physician was conducted during the hospitalization period. The primary endpoints assessed were three topics pertaining to medical consultation: medical conditions and treatment plans, policies for life-threatening events, and post-discharge support. The secondary endpoint was the number of consultations required. RESULTS: Online consultations and traditional in-person consultations were provided to 58 and 53 patients' families, respectively. Of the patients in the online consultation group who underwent multiple consultations, 46 (79%) also underwent in-person consultations. Regarding the topics, all the patients' families in both consultation groups had consultations on medical conditions and treatment plans; regarding the policy for life-threatening events, 47% of patient families in the online consultation group were consulted compared to 53% of those in the in-person group. Regarding post-discharge support, 59% of patient families in the online group were consulted compared to 40% in the in-person group. In the online consultation group of 58 patients' families, 188 consultations were conducted, including 95 online and 93 in-person consultations. Consultations on policy for life-threatening events were significantly more frequent in in-person consultations than in online consultations (p < 0.05). Regarding post-discharge support, online consultations were significantly more frequent than in-person consultations (p < 0.05). The number of family members who attended online consultations was significantly higher than those who attended in-person consultations (p < 0.05). CONCLUSIONS: Online consultation between the physician and patient's family may be an alternative to in-person consultation for explaining medical conditions and treatment plans. However, in-person consultation still plays an important role in sensitive topics, such as policy consultation for life-threatening events.


Subject(s)
Family , Humans , Female , Male , Prospective Studies , Middle Aged , Adult , Aged , Japan , Telemedicine , Remote Consultation , Videoconferencing , Referral and Consultation , Aged, 80 and over
8.
J Community Genet ; 2024 May 30.
Article in English | MEDLINE | ID: mdl-38814439

ABSTRACT

Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patients with high-risk pathogenic variants (PV). There are limited data on patient communication of moderate-risk PVs, variants of uncertain significance (VUS), and negative results. This qualitative study examined communication of positive, negative, and VUS hereditary cancer multi-gene panel (MGP) results in an ethnically and socioeconomically diverse population. As part of a multicenter, prospective cohort study of 2000 patients who underwent MGP testing at three hospitals in California, USA, free-text written survey responses to the question: "Feel free to share any thoughts or experiences with discussing genetic test results with others" were collected from participant questionnaires administered at 3 and 12-months post results disclosure. Content and thematic analyses were performed using a theory-driven analysis, Theory of Planned Behavior (TPB), on 256 responses from 214 respondents. Respondents with high perceived utility of sharing genetic test results often reported positive attitudes towards sharing test results and direct encouragement for genetic testing of others. Respondents with high self-efficacy in the sharing process were likely to report high perceived utility of sharing, whereas patients with low self-efficacy more often had VUS results and were more likely to report uncertainty about sharing. Consistent with TPB, our findings suggest that clinician reinforcement of the utility of genetic testing may increase intent for patients to communicate genetic information. Our findings suggest that clinicians should focus on strategies to improve patient understanding of VUS results.

9.
Mov Disord Clin Pract ; 11(7): 786-794, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38586948

ABSTRACT

BACKGROUND: Persons with Parkinson's disease (PD) who have received genetic test results are faced with the decision of whether, and how, to share that information with family. Studies in other specialties have shown high rates of disclosure motivated by a sense of responsibility. Rates of, and attitudes surrounding, disclosure have yet to be reported in this population. OBJECTIVES: To explore the disclosure practices and motivations of patients with PD regarding genetic test results, allowing insight to guide genetic counseling and navigation of test result discussions. METHODS: A cross-sectional online survey was distributed to adults with PD and previous genetic test results. Survey questions assessed demographics, genetic testing results and delivery, sharing behaviors, perceptions of PD, and motivations and barriers to family disclosure. RESULTS: Among respondents, 88.9% shared results with at least one family member, most often a child (73.5%) or sibling (65.4%). Seventy-four percent reported sharing results with someone outside of their family, most frequently a friend (88.4%). The most common motivation for disclosure was the perception that family members would want to know. Barriers to disclosure were lack of close relationships, understanding results, and perceived utility. CONCLUSIONS: Disclosure rates in this PD population were consistent with those in previously reported populations. Motivations were anchored in perceptions of utility and family desire for information, suggesting a need to adjust patient education to improve retention and to explore family dynamics and perceptions of results.


Subject(s)
Disclosure , Family , Genetic Testing , Parkinson Disease , Humans , Parkinson Disease/genetics , Parkinson Disease/psychology , Parkinson Disease/diagnosis , Male , Female , Middle Aged , Cross-Sectional Studies , Aged , Family/psychology , Adult , Surveys and Questionnaires , Motivation , Genetic Counseling/psychology
10.
Healthcare (Basel) ; 12(7)2024 Mar 22.
Article in English | MEDLINE | ID: mdl-38610128

ABSTRACT

According to official sources, the amounts of children-to-parent violence (CPV) in most advanced countries have been on an increasing trend for more than a decade, which generates great social concern. This phenomenon has also aroused enormous interest among researchers, who have identified risk and protective factors related to adolescent CPV in numerous studies. The aim of the present study was to analyse the relationship between offensive family communication and CPV in adolescence, and the moderating role that two psychosocial adjustment factors may be playing: a positive attitude towards the transgression of rules and psychological distress. A total of 7787 adolescents between 11 and 16 years of age (M = 13.37, SD = 1.34) from secondary schools in the state of Nuevo León (Mexico) participated in the study (51.5% boys, 48.5% girls). Structural equation modelling was performed using structural equation modelling software (EQS). The results showed that offensive family communication has a direct and significant relationship with CPV. It was also observed that there is an indirect relationship between both variables, through the relationships of psychological distress and a positive attitude towards the transgression of rules. The multigroup analysis performed showed gender differences in some of these relationships. Finally, the results and their implications in the field of family intervention are discussed.

11.
Cancers (Basel) ; 16(8)2024 Apr 20.
Article in English | MEDLINE | ID: mdl-38672659

ABSTRACT

Cascade genetic testing and surveillance reduce morbidity and mortality in Lynch syndrome. However, barriers to conveying information about genetic disorders within families result in low uptake of genetic testing. Provider-mediated interventions may increase uptake but raise legal and ethical concerns. We describe 30 years of national experience with cascade genetic testing combining family- and provider-mediated contact in Lynch syndrome families in the Danish Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Register. We aimed to estimate the added value of information letters to family members in Lynch syndrome families (provider-mediated contact) compared to family members not receiving such letters and thus relying on family-mediated contact. National clinical practice for cascade genetic testing, encompassing infrastructure, legislation, acceptance, and management of the information letters, is also discussed. Cascade genetic testing resulted in 7.3 additional tests per family. Uptake of genetic testing was 54.4% after family-mediated and 64.9% after provider-mediated contact, corresponding to an odds ratio of 1.8 (p < 0.001). The uptake of genetic testing was highest in the first year after diagnosis of Lynch syndrome in the family, with 72.5% tested after provider-mediated contact. In conclusion, the Danish model combining family- and provider-mediated contact can increase the effect of cascade genetic testing.

12.
Semin Pediatr Neurol ; 49: 101116, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38677795

ABSTRACT

The post-intensive care syndrome (PICS) concept whereby the ICU experience of the patient as well as their family can have long-term deleterious health outcomes in both the patient and the family provides a rationale and impetus for modifying the ICU experience for the parents of patients receiving pediatric neurocritical care. This article uses the PICS framework to provide insight to that parental experience. Included are the words of parents who tell what they felt and what they most needed from their children's doctors while their children were receiving neurocritical care. Based on their and many other ICU parents' advice and the PICS research, we identify a short list of specific steps the medical team can take immediately to support these parents.


Subject(s)
Critical Care , Critical Illness , Parents , Child , Humans , Critical Care/methods , Nervous System Diseases/therapy , Parents/psychology , Professional-Family Relations
13.
J Clin Nurs ; 33(7): 2525-2543, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38476035

ABSTRACT

AIM: To determine and describe what interventions exist to improve nurse-family communication during the waiting period of an emergency department visit. BACKGROUND: Communication between nurses and families is an area needing improvement. Good communication can improve patient outcomes, satisfaction with care and decrease patient and family anxiety. DESIGN: Scoping Review. METHODS: A scoping review was conducted following the Joanna Briggs Institution methodology: (1) identify the research question, (2) define the inclusion criteria, (3) use a search strategy to identify relevant studies using a three-step approach, (4) select studies using a team approach, (5) data extraction, (6) data analysis, and (7) presentation of results. DATA SOURCES: Medline, CINAHL, EMBASE, PsychInfo and grey literature were searched on 3 August 2022. RESULTS: The search yielded 1771 articles from the databases, of which 20 were included. An additional seven articles were included from the grey literature. Paediatric and adult interventions were found targeting staff and family of which the general recommendations were summarised into communication models. CONCLUSION: Future research should focus on evaluating the effectiveness of interventions using a standardised scale, understanding the specific needs of families, and exploring the communication models developed in this review. IMPLICATIONS FOR CLINICAL PRACTICE: Communication models for triage nurses and all emergency department nurses were developed. These may guide nurses to improve their communication which will contribute to improving family satisfaction. REPORTING METHOD: PRISMA-ScR. TRIAL AND PROTOCOL REGISTRATION: Protocol has been registered with the Open Science Framework, registration number 10.17605/OSF.IO/ETSYB. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.


Subject(s)
Communication , Emergency Service, Hospital , Professional-Family Relations , Humans , Adult , Family/psychology , Nursing Staff, Hospital/psychology , Female , Male
14.
Eur J Med Genet ; 68: 104931, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38431090

ABSTRACT

This paper presents the perspectives of healthcare professionals regarding their roles and responsibilities in supporting patients with the disclosure of genetic risk to their families. The study involved eight focus groups and two individual interviews with 34 healthcare professionals working in medical genetics services across Portugal. The data were analyzed thematically, resulting in three primary themes: i) informing patients about the risk to relatives; ii) ensuring patient confidentiality; and iii) encouraging family communication. Participants believed it is their responsibility to inform patients about the genetic risk to their relatives, with patients bearing a moral responsibility to convey this information. They explained that the principles of medical confidentiality of the patient take precedence over any direct responsibility to patients' relatives. Treating personal and familial genetic information separately was perceived as challenging to implement and potentially problematic. While most participants reported encouraging patients to inform their relatives, the extent to which they facilitate this communication varies and is also constrained by lack of resources and concerns about complying with legal requirements. Some participants called for clearer national guidelines. These results contribute for ongoing discussions regarding the scope of practice and the roles and responsibilities of healthcare professionals in appropriately cascading pertinent information to at-risk relatives.


Subject(s)
Confidentiality , Disclosure , Humans , Family , Communication , Delivery of Health Care
15.
J Genet Couns ; 2024 Mar 19.
Article in English | MEDLINE | ID: mdl-38504135

ABSTRACT

The limited literature on Asian family communication of hereditary cancer risk and cascade genetic testing for pathogenic variants (PVs) in BRCA1 and BRCA2 has reported that Asian patients have selective communication of test results and lower cascade testing rates. To better understand the factors that impact communication and cascade testing in Asian families, we conducted an in-depth qualitative study guided by the Health Belief Model. Participants with heterozygous PVs in ATM, BRCA1, BRCA2, CHEK2, or PALB2, who identified their family's origins to an Asian country, were recruited from the Stanford Cancer Genetics Research Database in October-November 2021. Utilizing a constructivist approach, we conducted sixteen semi-structured interviews around family communication and cascade genetic testing. The research team analyzed the transcript data using a reflexive thematic approach. Extensive discussions between the research team resulted in three primary themes presented in this paper: (1) the role of family health beliefs in cascade genetic testing, (2) changes in communication as a result of genetic testing, and (3) genetics providers' role in supporting family discussions on cascade genetic testing. Certain health beliefs, such as perceived susceptibility to cancer and self-efficacy to take action, were co-created by family members and these shared beliefs influenced decisions about genetic testing, family communication, and family support during the cascade genetic testing process. Participants shared strategies for how genetics providers can prepare Asian patients for more effective conversations with relatives and better address potential testing barriers by tailoring information and providing anticipatory guidance. This study represents an important contribution to the literature about cascade testing among an underrepresented group. Shared family health beliefs about genetic testing may be particularly relevant for this community and these findings can inform strategies to increase cascade genetic testing in Asian families.

16.
MethodsX ; 12: 102656, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38524308

ABSTRACT

The Robert Hollman Foundation (RHF) designed "Hollman Facilitations" (HF), a user-friendly way of supporting children with visual impairment (VI) and their families on a daily basis. This tool consists of specifically designed pictures on simple A4 sheets, which highlight with images and captions the key aspects of these children's everyday lives. Professionals can easily modify Hollman Facilitations to customize them to the unique developmental needs of every single child with VI and to their individualized strengths and weaknesses. This type of support acts as a reminder, to help families keep in mind what is essential for their children with VI in everyday life. HF are also useful for professionals because they give a clear, at-a-glance overview of the needs of visually impaired children, helping their communication with their families. In order to understand the perceived effectiveness of this tool, a questionnaire was designed and sent to 49 families, asking their opinions and satisfaction levels regarding its clarity, adequacy, usability and usefulness. 36 parents answered reporting overall very high satisfaction levels. A second questionnaire was sent to 29 RHF professionals to collect their opinions regarding HF usability and usefulness and the majority of them was very satisfied of its use in their daily work. This data supports overall this tool, which can be also easily replicated and also potentially used in other settings, beyond the field of visual impairment. •HF support children with VI and their families substantially and works as a reminder of what the professionals found in their consultations, to be fundamental for the children to promote the use of their functional vision and their strengths and to consequently improve the quality of their daily lives•HF favour a better communication between health professionals and families of children with VI, sharing therapeutic indications through the adoption of a customized, user-friendly, everyday tool by integrating pictures and text with oral communication•HF help professionals to identify strategies that best promote the overall development of children with visual impairment and to express them in an understandable way.

17.
Patient Educ Couns ; 123: 108202, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38395023

ABSTRACT

OBJECTIVE: We examined how responsibility (the "duty to inform relatives about genetic testing results") is understood and enacted among Swiss and Korean women carrying BRCA1 or BRCA2 pathogenic variants. METHODS: In-depth interviews and/or focus groups with 46 Swiss and 22 Korean carriers were conducted, using an identical interview guide. Data were analyzed inductively and translated into English for cross-country comparisons. RESULTS: We identified five modes of responsibility in both samples: Persuader, Enabler, Relayer, Delayer, and Decliner. The Enabler and Relayer modes were the most common in both countries. They followed the rational imperative of health and norms of competence and self-determination, respectively. The Relayer mode transmitted information without trying to influence relatives' decisions. The Delayer and Decliner modes withheld information, deeming it the best way to safeguard the family during that specific moment of its trajectory. Responsibility to disclose testing results was influenced by culturally diverging conceptions of the family unit and socio-contextual norms. CONCLUSION: Responsibility primarily reflects the imperative of health prevention; findings demonstrate various interpretations, including the sense of family caring achieved through controlled disclosure of genetic information. PRACTICE IMPLICATIONS: Findings offer healthcare providers socio-anthropological insights to assist probands navigate the disclosure of genetic information within their families. TRIAL REGISTRATION NUMBER: NCT04214210 (registered Nov 2, 2020), KCT 0005643 (registered Nov 23, 2020).


Subject(s)
Genetic Predisposition to Disease , Neoplasms , Humans , Female , Switzerland , Genetic Testing , Neoplasms/diagnosis , Neoplasms/genetics , Republic of Korea , Family
18.
Fam Cancer ; 23(2): 155-164, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38184510

ABSTRACT

Inherited cardiovascular diseases cover the inherited cardiovascular disease familial hypercholesterolemia and inherited cardiac diseases, like inherited cardiomyopathies and inherited arrhythmia syndromes. Cascade genetic counseling and testing in inherited cardiovascular diseases have had three decades of academic attention. Inherited cardiovascular diseases affect around 1-2% of the population worldwide and cascade genetic counseling and testing are considered valuable since preventive measures and/or treatments are available. Cascade genetic counseling via a family-mediated approach leads to an uptake of genetic counseling and testing among at-risk relatives of around 40% one year after identification of the causal variant in the proband, with uptake remaining far from complete on the long-term. These findings align with uptake rates among relatives at-risk for other late onset medically actionable hereditary diseases, like hereditary cancer syndromes. Previous interventions to increase uptake have focused on optimizing the process of informing relatives through the proband and on contacting relatives directly. However, despite successful information dissemination to at-risk relatives, these approaches had little or no effect on uptake. The limited research into the barriers that impede at-risk relatives from seeking counseling has revealed knowledge, attitudinal, social and practical barriers but it remains unknown how these factors contribute to the decision-making process for seeking counseling in at-risk relatives. A significant effect on uptake of genetic testing has only been reached in the setting of familial hypercholesterolemia, where active information provision was accompanied by a reduction of health-system-related barriers. We propose that more research is needed on barriers -including health-system-related barriers- and how they hinder counseling and testing in at-risk relatives, so that uptake can be optimized by (adjusted) interventions.


Subject(s)
Cardiovascular Diseases , Genetic Counseling , Genetic Testing , Humans , Genetic Testing/methods , Cardiovascular Diseases/genetics , Genetic Predisposition to Disease
19.
Cereb Cortex ; 34(1)2024 01 14.
Article in English | MEDLINE | ID: mdl-38163444

ABSTRACT

Parental feedback affects children in multiple ways. However, little is known about how children, family, and feedback types affect parental feedback neural mechanisms. The current study used functional near-infrared spectroscopy-based hyperscanning to observe 47 mother-daughter pairs's (mean age of mothers: 35.95 ± 3.99 yr old; mean age of daughters: 6.97 ± 0.75 yr old) brain synchronization in a jigsaw game under various conditions. Between parental negative feedback and praise conditions, mother-daughter brain in supramarginal gyrus, left dorsolateral prefrontal cortex, right inferior frontal gyrus, and right primary somatic (S1) differed. When criticized, conformity family-communication-patterned families had much worse brain synchronization in S1, left dorsolateral prefrontal cortex, and right Wernicke's region than conversational families. Resilient children had better mother-child supramarginal gyrus synchronicity under negative feedback. This study supports the importance of studying children's neurological development in nurturing environments to assess their psychological development.


Subject(s)
Brain , Prefrontal Cortex , Female , Humans , Feedback , Prefrontal Cortex/diagnostic imaging , Parents , Mothers , Brain Mapping
20.
Heliyon ; 10(1): e23260, 2024 Jan 15.
Article in English | MEDLINE | ID: mdl-38192778

ABSTRACT

The study aims to determine the life experiences that affect the formation of permanent identity features that form the self during adolescence and to determine the importance of these identity features for adolescents. For this purpose, in-depth interviews were conducted with 8 participants, 4 of whom were women and 4 of whom were men, between the ages of 22-24, to understand the life experiences that affect their self-development during childhood and adolescence. Four of the participants are university students, and 4 of them are high school graduates. Interviews and analyses were carried out within the Interpretive phenomenological analysis principles framework. According to the results of the analysis obtained from the interviews, it was found that the most influential factor on self-development was family communication orientation in childhood, and the participants who grew up in families with a conversation orientation had more positive emotions during childhood, saw themselves as part of the family more, and established more successful friendships. On the other hand, participants from families with a conformity orientation had more negative feelings in childhood, had a lower sense of belonging to the family, and were found to be less successful in friendships.

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