Adaptation to bipolar disorder and perceived risk to children: a survey of parents with bipolar disorder

Abstract Background Bipolar disorder (BPD) is a common condition associated with significant morbidity and reduced quality of life. In addition to challenges caused by their mood symptoms, parents affected with BPD harbor concerns about the mental health of their children. Among adult parents who perceive themselves to have BPD, this study aims to examine participants’ coping methods; identify predictors of adaptation; assess parental perceptions of risks for mood disorders among their children; and describe the relationships among illness appraisals, coping, adaptation to one’s own illness, and perceived risk to one’s children. Methods Parents who self-identified as having BPD completed a web-based survey that assessed dispositional optimism, coping, perceived illness severity, perceived etiology of BPD, perceived risk to offspring, and adaptation to BPD. Participants had at least one unaffected child who was 30 years of age or below. Results 266 parents were included in the analysis. 87% of parents endorsed a “somewhat greater” or “much greater” risk for mood disorders in one’s child(ren) than someone without a family history. Endorsing a genetic/familial etiology to BPD was positively correlated with perceived risk for mood disorders in children (r s = .3, p < 0.01) and active coping with BDP (r = .2, p < 0.01). Increased active coping (β = 0.4, p < 0.001) and dispositional optimism (β = 0.3, p < 0.001) were positively associated with better adaptation, while using denial coping was negatively associated with adaptation (β = −0.3, p < 0.001). The variables explained 55.2% of the variance in adaptation (F = 73.2, p < 0.001). Coping mediated the effect of perceived illness severity on adaptation. Conclusions These data inform studies of interventions that extend beyond symptom management and aim to improve the psychological wellbeing of parents with BPD. Interventions targeted at illness perceptions and those aimed at enhancing coping should be studied for positive effects on adaptation. Parents with BPD may benefit from genetic counseling to promote active coping with their condition, and manage worry about perceived risk to their children

Genetics and Common Disorders: Implications for Primary Care and Public Health Providers

We developed this program for primary care providers (PCPs) and public health professionals (PHPs) who are interested in increasing their understanding of the genetics of common chronic diseases and of the implications of genetics and genomics for their fields. The program differs from virtually all previous educational efforts in genetics for health professionals in that it focuses on the genetics of common chronic disease and on the broad principles that emerge when one views disease from the perspectives of variation and individuality, which are at the heart of thinking genetically. The CD-ROM introduces users to content that will improve their understanding of topics such as: • A framework for genetics and common disease; • Basic information on genetics, genomics, genetic medicine, and public health genetics, all in the context of common chronic disease; • The status of research on genetic contributions to specific common diseases, including a review of research methods; • Genetic/environmental interaction as the new “central dogma” of public health genetics; • The importance of taking and analyzing a family history; • The likely impact of potential gene discovery and genetic testing on genetic counseling and risk assessment and on the practices of PCPs and PHPs; • Stratification of populations into low-, moderate-, and high-risk categories; • The potential role of PCPs and PHPs in identifying high-risk individuals and families, in providing limited genetics services, and in referring to clinical genetics specialists; the potential for standard referral algorithms; • Implications of genetic insights for diagnosis and treatment; • Ethical, legal, and social issues that arise from genetic testing for common chronic diseases; and • Specific prevention strategies based on understanding of genetics and genetic/ environmental interactions. The interactive content – developed by experts in genetics, primary care, and public health – is organized around two case studies designed to appeal to primary care providers (thrombophilia) and public health professionals (development of a screening grogram for colorectal cancer). NCHPEG has distributed more than 0000 copies of the CD-ROM to NCHPEG member organizations and to other organizations and individuals in response to requests. The program also is available at www.nchpeg.org

Parenting with bipolar disorder: Coping with risk of mood disorders to children

Children of individuals with bipolar disorder (BPD) have increased risk for mood disorders and other adverse psychosocial outcomes due to genetic and environmental risk. Though parents with BPD are aware of increased risk to children, little is known about efforts undertaken in response or their perceived utility. Among parents who self-report with BPD, this study identifies key variables associated with parental coping with children’s risk of mood disorders; and explores the relationship between monitoring children’s moods and perceived coping efficacy. In this U.S. study, active parental coping with, and cognitive distancing from, child’s risk were measured using novel scales. Parents (n=266) who self-identified as having BPD completed a web-based survey. They had at least one unaffected child. Most participants endorsed monitoring their children’s moods. Monitoring was associated with increased perceived control over the child’s well-being (p<0.005), but not feeling less worried. Active parental coping with risk to children was positively associated with active coping with own illness (β=0.25, p=0.001), family history (β=0.24, p=0.001), and self-report of current depression (β=0.16, p=0.037), explaining 13.8% of the variance (F=8.81, p<0.001). Cognitive distancing from the child’s risk was positively associated with confidence in diagnosis (β=0.25, p=0.001), and negatively associated with self-report of current mania (β=−0.19, p=0.007), perceiving BPD as genetic (β=−0.26, p<0.001) and having more children (β=−0.20, p=0.004); explaining 16.2% of the variance (F=8.63, p<0.001). Parents’ adaptation to their own BPD was modestly correlated with active coping with child’s risk (r=0.15, p<.05) but not with cognitive distancing. The findings support the importance of understanding causal attributions and the value of genetic education and counseling for parents with BPD. Further research is necessary to elucidate the psychological benefits of active coping versus cognitive distancing from child’s risk, and explore additional variables that predict parental coping with children’s risk of mood disorders

Perceptions of HIV cure and willingness to participate in HIV cure-related trials among people enrolled in the Netherlands cohort study on acute HIV infection

BACKGROUND: People who initiate antiretroviral therapy (ART) during acute HIV infection are potential candidates for HIV cure-related clinical trials, as early ART reduces the size of the HIV reservoir. These trials, which may include ART interruption (ATI), might involve potential risks. We explored knowledge and perception of HIV cure and willingness to participate in cure-related trials among participants of the Netherlands Cohort Study on Acute HIV infection (NOVA study), who started antiretroviral therapy immediately after diagnosis of acute HIV infection. METHODS: We conducted 20 in-depth qualitative interviews with NOVA study participants between October–December 2018. Data were analyzed thematically, using inductive and iterative coding techniques. FINDINGS: Most participants had limited knowledge of HIV cure and understood HIV cure as complete eradication of HIV from their bodies. HIV cure was considered important to most participants, mostly due to the stigma surrounding HIV. More than half would consider undergoing brief ATI during trial participation, but only one person considered extended ATI. Viral rebound and increased infectiousness during ATI were perceived as large concerns. Participants remained hopeful of being cured during trial participation, even though they were informed that no personal medical benefit was to be expected. INTERPRETATION: Our results highlight the need for thorough informed consent procedures with assessment of comprehension and exploration of personal motives prior to enrollment in cure-related trials. Researchers might need to moderate their expectations about how many participants will enroll in a trial with extended ATI

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations)

DuchenneConnect Registry Report

Research activity in Duchenne/Becker muscular dystrophy has surged in recent years, requiring robust information networks to support ongoing development. Established by Parent Project Muscular Dystrophy in late 2007, DuchenneConnect was created to bridge the information gap between care providers, researchers and the patient community, thereby addressing medical care needs and accelerating the pace of therapeutic advancements. This report represents the first in a new series that will be regularly shared by DuchenneConnect and PPMD. Data in this report was collected through June 2011

HIV remission trial investigators’ attitudes towards risk and risk mitigation in trials that include treatment interruption

Early-phase HIV remission (“cure”) trials aim to test interventions developed to eradicate HIV or to sustainably control HIV without antiretroviral treatment (ART). Many remission trials include analytic treatment interruption (ATI) to evaluate interventions, which increases the risk to participants and their sexual partners. We conducted an online questionnaire of international HIV remission trial investigators and other study team members to assess their expectations regarding the time to achieve long-term control of HIV replication without treatment (functional cure) or complete eradication of replication-competent HIV virus (sterilizing cure); attitudes toward HIV remission research and the feasibility, acceptability, and efficacy of six HIV transmission risk mitigation strategies during trials with ATI of fixed duration.Nearly half of respondents (47%) reported expecting a functional cure for HIV to be achieved in 5–10 years, and one-third (35%) reported 10–20 years for a sterilizing cure to be achieved. On a scale of −3 to 3, mean scores indicated greater respondent concern about the risk of HIV transmission to partners during ATI (Time to rebound Mean: 0.4 and Fixed duration Mean: 11), compared to participant health risks from ATI (Time to Rebound Mean: -.9 and Fixed duration Mean: 0.0). With regard to feasibility, acceptability, and efficacy respectively, mitigation efforts rated positively included: requiring counseling for potential participants (Means: 2.3; 2.1; and 1.1), providing partner referrals for PrEP (Means: 1.3; 1.3; 1.5), providing pre-exposure proxylaxis directly to partners (Means: 1.0; 1.5; 1.6), and monitoring participants for new sexually transmitted disease acquisition (Means: 1.9; 1.4; 1.0). Respondents were less positive about requiring that participants’ sexual partner(s) participate in risk counseling or limiting participation to those who commit to abstaining from sex during the entire ATI period.Our study demonstrates that HIV remission trial investigators and study team members are concerned about the risk of transmission to sexual partners during ATI. Separating the assessment of risk mitigation strategies for transmission risk into feasibility, acceptability, and efficacy allows the discovery of strategies that may best achieve all three outcomes. Additional research is needed to compare these more fine-grained assessments with views held by other investigators, people living with HIV, and trial participants