Discovering the Family History of Huntington Disease (HD)

A considerable body of research has explored both predictive genetic test decisions for Huntington disease (HD) and the impact of receiving a test result. Extant research reveals little, however, about how and when at risk persons first discover their family history of HD. Drawing upon 24 semi-structured interviews with at risk persons and their family members, this study explored initial discovery of HD in the family. Qualitative data analysis revealed four different, though sometimes related, trajectories of discovery: (1) something is wrong, (2) out of the blue, (3) knowing, but dismissing, and 4) growing up with HD. These pathways highlighted the importance of the temporal and historical contexts in which genetic risk for HD was discovered. Notably, ignorance about HD was the most salient feature shaping participants' narratives of discovery. Implications for research and clinical practice are discussed.     

Living with Long QT Syndrome: A Qualitative Study of Coping with Increased Risk of Sudden Cardiac Death

Long QT syndrome (LQTS) is a congenital disorder associated with increased risk of sudden cardiac death; LQTS patients and their families are offered diagnostic or predictive genetic testing. The purpose of this qualitative study was to investigate the psychosocial aspects of living with LQTS, to identify LQTS patients’ daily life challenges and coping strategies, and to describe their experiences with healthcare services. In-depth interviews were conducted with seven individuals who had been tested for long QT genetic mutation. Four of these participants had an implantable cardiac defibrillator (ICD). The participants reported that early and gradually acquired knowledge of the syndrome was an advantage. They also reported experiencing worries and limitations in daily life, but their main concern was for their children or grandchildren. Healthcare providers’ minimal knowledge of LQTS resulted in uncertainty, misinformation, and even wrong advice regarding treatment. The results suggest that regional centers, with the appropriate expertise, should investigate and counsel LQTS patients and their families.     

Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges

Amyotrophic lateral sclerosis (ALS) and Huntington disease (HD) are generally considered to be distinct and easily differentiated neurologic conditions. However, there are case reports of the co-occurrence of ALS with HD. We present a 57-year-old male with a clinical diagnosis of sporadic ALS in the context of a family history of HD. This case adds to the limited literature regarding individuals with a family history of HD who present with features of ALS. There were several genetic counseling challenges in counseling this patient including the diagnostic consideration of two fatal conditions, complex risk information, the personal and familial implications, and the patient’s inability to communicate verbally or through writing due to disease progression. DNA banking effectively preserved the right of our patient and his wife not to learn his HD genetic status during a stressful time of disease progression while providing the option for family members to learn this information in the future if desired. We present lessons learned and considerations for other clinical genetics professionals who are presented with similar challenging issues.     

The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease

Huntington disease (HD) is a progressive neurodegenerative disorder. Presymptomatic genetic testing allows at-risk individuals to clarify their risk status. Understanding the characteristics and motivations of individuals seeking HD presymptomatic genetic testing better equips genetic counselors and other healthcare professionals to provide comprehensive and personalized care. The aims of this study were to (1) determine whether the average age when individuals seek presymptomatic HD genetic testing has decreased over time, (2) assess motivations for seeking testing, (3) explore whether there is a relationship between age and motivations, and (4) explore genetic counselors’ perceptions of the shift in age. Data from the US HD testing centers (N?=?4) were analyzed. A small but statistically significant decrease in age of individuals seeking presymptomatic testing was observed (p?=?0.045). HD community members (N?=?77) were surveyed regarding presymptomatic testing motivations. Younger individuals were more likely than older individuals to cite “To learn whether or not you would develop HD” and “To make choices about further education or a career” compared to older individuals (p?<?0.05). Conversely, older individuals more frequently cited “To give children a better idea of their risk” (p?<?0.002). Sixteen percent of genetic counselors surveyed (6/37) perceived a change in age of testing. All of these respondents had provided HD testing for ten or more years and anecdotally believed the age at testing has decreased over time. Study results help providers personalize counseling based on patient’s age and serve as a starting point for more research into the relationship between age at testing and motivations for testing.     

Wellness and Religious Coping Among Thai Individuals Living with Chronic Kidney Disease in Southern California

This qualitative research is based on eight Thai participants living with chronic kidney disease living in Southern California. Four emerging themes are (a) wellness, (b) self-care, (c) impact of illness on life, and (d) religious coping. Family relations, social support, and religious coping affected self-care and how they managed their everyday activities. Knowledge about the disease and its mechanism were crucial to the decision-making process in relation to self-care. Good self-care and appropriate self-management led to wellness and improved quality of life. Religion provided a belief system focusing on the place of acceptance that was essential for coping with emotional stressors.     

Coping with Stresses in Daily Living: A pilot study

This pilot study examines how people cope with the stresses in daily living within the framework of Richard Lazarus's concept of the adaptational significance of Hassles and Uplifts. The study aimed to: (a) explore the type, frequency and intensity of Hassles and Uplifts in daily living in a Malaysian cultural setting; (b) to investigate the utility of Hassles and Uplifts of psychosomatic patients for therapy. Eight men and 128 women completed the Hassles and Uplifts Scales and further data were obtained from self-reports. Similarities and differences between men and women are compared and contrasted. A case study is used to illustrate the application of Hassles and Uplifts in stress management.     

Adolescents and Young Adults Living with Congenital Heart Disease: Coping,Stress Reactivity,and Emotional Functioning

Living with congenital heart disease (CHD) presents survivors with numerous stressors, which may contribute to emotional problems. This study examined (a) whether coping with CHD-related stress predicts symptoms of depression and anxiety, and (b) whether associations between coping and emotional distress are moderated by involuntary stress reactivity. Adolescents and young adults diagnosed with CHD (M_age?=?26.4) were recruited from pediatric and adult outpatient cardiology clinics. Participants (N?=?168) completed online self-report measures. Hierarchical multiple regression analyses revealed that secondary control coping (e.g., cognitive restructuring, positive thinking) predicted lower depression and anxiety. Primary control coping (e.g., problem-solving) and stress reactivity (e.g., rumination, emotional numbing) interacted to predict depression and anxiety: the higher individuals were in involuntary stress reactivity, the stronger was the association between primary control coping and lower depression and anxiety. These results can inform clinical efforts to prevent or reduce emotional distress among CHD survivors.     

Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease

This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington’s disease (HD) 20–30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct-to-consumer (DTC) genetic testing for HD is acceptable, and whether incidental/secondary findings should be returned in the context of whole exome/genome sequencing. Most—but not all—participants were in favor of an individual’s right to decide whether and when to pursue HD testing, use of a formal HD testing protocol, and returning medically actionable secondary findings. However, the majority of participants were opposed not only to physician ordering and DTC HD testing in the absence of a formal protocol but also to returning a secondary finding of an expanded HD allele. This study presents the opinions of a unique and extremely well-informed cohort on issues that need to be taken into careful consideration by genetic counselors and other medical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, and making decisions about whether and how to return incidental findings.     

Coping with Disasters While Living in Poverty: A Systematic Review

ABSTRACT

This review synthesizes the literature on how Asia-Pacific children and families living in poverty cope with disasters. A systematic search yielded 26 studies from six low- and middle-income countries (LMIC) in the region. Findings emphasized the role of socioeconomic factors, sociocultural factors, and indigenous knowledge. Coping strategies related to finances were most prominently described in the studies, in contrast to health and psychosocial strategies. Substantial gender issues were identified. The review highlights gaps regarding child involvement in research and coping strategies used by children living in poverty.     

Negotiating Responsibility: Case Studies of Reproductive Decision-Making and Prenatal Genetic Testing in Families Facing Huntington Disease

Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.     

Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors

Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to asymptomatic at-risk individuals. Approximately half of the population undergoing predictive testing for HD consists of young adults (≤35 years old). Finishing one’s education, starting a career, engaging in romantic relationships and becoming a parent are key milestones of young adulthood. We conducted a qualitative study to explore how testing gene-positive for HD influences young adults’ attainment of these milestones, and to identify major challenges that pre-symptomatic young adults face to aid the development of targeted genetic counseling. Results of our study demonstrate that 1) knowing one’s gene-positive status results in an urgency to reach milestones and positively changes young adults’ approach to life; 2) testing positive influences young adults’ education and career choices, romantic relationships, and family planning; 3) young adults desire flexible and tailored genetic counseling to address needs and concerns unique to this population. Findings of this study contribute to the understanding of the impact of predictive testing for HD on young adults, and highlight issues unique to this population that call for further research, intervention and advocacy.     

Family Perceptions of Living with Alzheimer's Disease

The purpose of this study was to identify the major themes that 38 multigenerational families emphasized in their conversations about living with Alzheimer's disease. Interviews were conducted with families that were providing home care in the early stages of the disease. Family perceptions were analyzed with the aid of a computer content analysis program. Families emphasized four themes: (a) the awareness that something was “wrong”; (b) the uncertain nature of the diagnosis; (c) excluding a family member; and (d) the ambiguous nature of family life with Alzheimer's disease.     

Couples' Disease: The Experience of Living with a Partner with Chronic Depression

This study is concerned with the impact of chronic depression on partners. Thirteen male and female participants who lived with a partner with chronic depression were interviewed. Data were analyzed using thematic analysis. Findings highlighted a need for caregivers to be more centrally involved in their partner's care, given that they face stigma, shifts in role identity, and uncertainty, which all potentially threaten the level of support they can give their partner. In this sense, depression might be described as a “couples disease,” suggesting that couples therapy and group support for partners should be more widely available to help reduce the burden on partners and potentially prevent relationship breakdown.     

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease

This paper reflects on experience gained from presymptomatic testing for Huntington disease. An approach is presented which considers the role of the clinician and aims of the interview. Irrespective of the disease being tested for, it is suggested that the psychological aim of presymptomatic testing is to foster emotional insight and understanding that will help clients in their decision-making process about testing and their subsequent adjustment to the result. Based on these aims the process of presymptomatic testing, counseling is considered in terms of clarification, consideration, education, and reflection, followed by decision making. Practical approaches are discussed and illustrated with clinical examples.     

Measuring Outcome Expectancies for Specific Coping Behaviors: the Coping Expectancies Scale (CES)

Outcome expectancies for specific coping strategies may help explain why people vary in their choices of coping strategies (e.g., whether to smoke a cigarette or talk to a friend). These choices have relevance to both physical and mental health. The current study evaluated the psychometric properties of a new measure of mood regulation expectancies for specific explicit coping strategies, the Coping Expectancies Scale (CES). 552 adults completed the CES and other measures online. Factor analysis of the CES using Maximum Likelihood Extraction with promax rotation revealed three factors: Expectancies for Passive/Avoidant Coping, Expectancies for Active Behavioral Coping, and Expectancies for Active Cognitive Coping. Concurrent, discriminant, and predictive validity for these factors were strong, as was retest reliability. The CES enables researchers to measure expectancies for specific coping strategies, which may in turn help to explain people’s choices of strategies. In addition, the ability to measure these expectancies may allow for the development of treatment interventions that directly target them, ultimately enabling clients to adjust their expectancies and their choices of coping behavior, with implications for health and well-being.