LQTS Parents’ Reflections About Genetic Risk Knowledge and their Need to Know or Not to Know their Children's Carrier Status

Mangset, Margrete; Hofmann, Bjørn

doi:10.1007/s10897-014-9727-2

Cited by 8 publications

(23 citation statements)

References 22 publications

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“…Although these results may in part be due to the fact that 86 % of respondents were female, these findings are consistent with those found by D'AgincourtCanning, who concluded that women are more likely to be responsible for communicating health-related information to other family members [6]. In agreement with recommendations made by multiple studies, children's diagnoses were most commonly explained to them gradually over a period of time [2,8,11]. Further investigation revealed that the initial explanation was more likely to occur over a shorter period of time as the age of diagnosis increased.…”

Section: Communication Surrounding the Cardiomyopathysupporting

confidence: 89%

“…However, minimal research has been published on how parents communicate risk information about cardiac diseases associated with SADS [8]. The primary objectives of this study included investigating how parents communicate with children about the children's diagnoses of cardiac diseases associated with SADS, exploring how the risk of sudden cardiac arrest is discussed, and determining which aspects of these conversations parents find most difficult to communicate to their child.…”

Section: Introductionmentioning

confidence: 99%

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Exploring the Discussion of Risk of Sudden Cardiac Death

et al. 2015

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Sudden arrhythmic death syndrome (SADS), where death is secondary to cardiac arrhythmia, is associated with several cardiac ion channelopathies, including long QT syndrome and Brugada syndrome, as well as cardiomyopathies such as hypertrophic cardiomyopathy and dilated cardiomyopathy. Many of these conditions often present in childhood or adolescence. This study investigates how diagnoses of cardiac diseases associated with SADS are communicated within families. A questionnaire was distributed through cardiac disease-focused support groups and organizations. Data from 114 parents who have a child with a SADS condition were used for analysis. Based on the responses, parents explained the risk of SADS in a straightforward manner and related the risk to the importance of compliance with the prescribed treatment. Participants also found it difficult to determine and enforce lifestyle modifications, manage individuals' emotional reactions, convey the seriousness of the information without scaring their children, and discuss the risk of SADS during these conversations. Concerns regarding disease progression, length and quality of life, and treatment failures were also expressed. Healthcare providers, the Internet, other affected people, visual aids, and personal experience were all reported to be helpful for facilitating these discussions. Services and resources requested by participants included children's support groups, a counselor or psychologist, and child-oriented materials. Increased understanding of how families discuss children's diagnosis of SADS conditions will equip healthcare providers with the information to address parental concerns and help facilitate meaningful and informative discussions within families.

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Section: Communication Surrounding the Cardiomyopathysupporting

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Exploring the Discussion of Risk of Sudden Cardiac Death

et al. 2015

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“…The clinician charged with disclosing the diagnosis should be familiar with all aspects of TS. He or she should set aside sufficient time to inform the parents and/or the patient about the various aspects of the diagnosis and treatment options (24). Experienced pediatric endocrinologists specialized in growth disorders should be involved in order to inform about the option of growth hormone (GH) therapy.…”

Section: Diagnostic Disclosurementioning

confidence: 99%

Care of girls and women with Turner syndrome: beyond growth and hormones

Culen

Ertl

Schubert

et al. 2017

Endocrine Connections

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Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. Guidelines on the optimal screening procedures and medical treatment are easy to find. However, recommendations for the treatment of the incriminating psychosocial aspects in TS are scarce. In this work, we first reviewed the literature on the cognitive and psychosocial development of girls with TS compared with normal development, from disclosure to young adulthood, and then introduce a psychosocial approach to counseling and treating patients with TS, including recommendations for age-appropriate psychological diagnostics. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS.

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“…Others welcome genetic testing because a positive finding may enable them to take specific preventative measures for themselves and/or family members based on the precise genetic variant identified. Nevertheless, even those who elect to have genetic testing struggle with the implication of a positive result, worrying that disclosing a positive test result could have a negative impact on a family member [5]. …”

Section: Psychological Stress Associated With Cardiogeneticsmentioning

confidence: 99%

Psychological Stress Associated with Cardiogenetic Conditions

et al. 2014

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Aim Genetic testing now makes it possible to identify specific mutations that may lead to life-threatening cardiac arrhythmias. This article presents data from a qualitative research study that explored the subjective experiences of individuals and families with cardiogenetic conditions. We focus on describing patients’ experiences of psychological stresses associated with having a cardiogenetic condition, illustrating the importance of integrating psychological and medical care. This integration of care is particularly important as personalized genomic medicine continues to evolve and the implications of genetic testing have a profound effect on individuals and families. Methods The researchers interviewed 50 participants from 32 families. The research team used a systematic, grounded theory procedure to code and analyze interview and focus group transcripts, incorporating multiple coders at several stages of the data analysis process. Results Three major themes emerged: a bereavement trajectory associated with sudden death in the absence of prior symptoms; high anxiety about transmitting a genetic mutation; and resilience reflected in positive lifestyle changes and participation in support groups. Conclusion This article identifies patient perspectives on personalized genomic medicine in cardiogenetics that can improve clinical care, including: specialized bereavement counseling; improving education about cardiogenetic conditions for medical professionals; parent guidelines for discussing cardiogenetic conditions with their children; information about support groups; and the routine inclusion of clinical psychologists in interdisciplinary treatment teams. Given recent advances in technology and decreasing costs, whole-genome sequencing is likely to become common practice in the near future. Therefore, these recommendations are likely to be relevant for other genetic conditions, as well as the entire field of personalized genomic medicine.

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LQTS Parents’ Reflections About Genetic Risk Knowledge and their Need to Know or Not to Know their Children's Carrier Status

Cited by 8 publications

References 22 publications

Exploring the Discussion of Risk of Sudden Cardiac Death

Exploring the Discussion of Risk of Sudden Cardiac Death

Care of girls and women with Turner syndrome: beyond growth and hormones

Psychological Stress Associated with Cardiogenetic Conditions

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