What Were You Thinking?: Individuals at Risk for Huntington Disease Talk About Having Children
ABSTRACT Most of the research on reproduction in those at risk for Huntington Disease (HD) has focused on the impact of genetic testing on reproductive decision-making. The main goal has been to determine whether discovering one is a carrier of the HD mutation changes an individual's or couple's decision to start a family or to have more children. The purpose of this qualitative study was to examine reproductive decision-making in a sample of individuals at risk for HD who have chosen not to pursue genetic testing. PHAROS (Prospective Huntington At Risk Observational Study) is a multi-site study that aims to establish whether experienced clinicians can reliably determine the earliest clinical symptoms of HD in a sample of individuals at 50% risk who have chosen not to pursue genetic testing. Data for this article were obtained from unstructured open ended qualitative interviews of a subsample of individuals participating in the PHAROS project. Interviews were conducted at six PHAROS research sites across the United States. In this paper, the research team used qualitative descriptive methods to construct and explore reproduction decision-making in three groups of people: 1) those who knew of their risk and decided to have children; 2) those who had children before they knew of their risk, and 3) those who chose not to have children based on their risk. We discuss the delicate balance health care professionals and genetic counselors must maintain between the benefits of providing hope and the dangers of offering unrealistic expectations about the time in which scientific advances actually may occur.
Article: Milestones in Huntington disease[Show abstract] [Hide abstract]
ABSTRACT: There have been extraordinary advances in our knowledge of the underlying gene, the protein it encodes, various models of disease, and potential targets for effective therapies for Huntington disease. Huntington disease research has increased exponentially in the past 25 years, and we now understand many of the molecular mechanisms underlying the disease. Still, more work needs to be done before we have a full understanding of the pathophysiology of the disease. Clinical research on biomarkers and clinical trials on potential neuroprotective agents are underway. Here we review our progress in these areas over the last 25 years and speculate on what the next 25 years may hold.Movement Disorders 05/2011; 26(6):1127-33. DOI:10.1002/mds.23685 · 5.63 Impact Factor
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ABSTRACT: Objective : To examine the psychosocial functioning of adults with congenital craniofacial conditions relative to normative data. Design : Single sample cross-sectional design. Setting : The Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, which is one of the main craniofacial treatment centers in Australia. Participants : Adults (N = 93) with congenital craniofacial conditions (excluding cleft lip/palate) who were treated in the Australian Craniofacial Unit. Main Outcome Measures : All participants completed self-report scales assessing health-related quality of life (SF-36); life satisfaction, anxiety, and depression (HADS); self-esteem (Rosenberg); appearance-related concerns; perceived social support; and social anxiety. Results : Overall, participants were very similar in psychosocial function to the general population. However, adults with craniofacial conditions were less likely to be married and have children (females), were more likely to be receiving a disability pension, and reported more appearance-related concerns and less social support from friends. They also reported more limitations in both their social activities, due to physical or emotional problems, and usual role activities, because of emotional problems, as well as poorer mental health. Conclusions : These results give cause to be very positive about the long-term outcomes of children who are undergoing treatment for craniofacial conditions, while also identifying specific areas that interventions could target.The Cleft Palate-Craniofacial Journal 05/2011; 49(3):276-85. DOI:10.1597/10-143 · 1.11 Impact Factor
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ABSTRACT: BACKGROUND: Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. METHOD: Qualitative retrospective interview study on couples who underwent ePND or ePGD for Huntington's disease in the period 1996-2010. RESULTS: Seventeen couples were included: 13 had experienced ePND and six ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. CONCLUSION: ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD.Clinical Genetics 11/2012; 83(2). DOI:10.1111/cge.12058 · 3.65 Impact Factor