Mindfulness-Based Stress Reduction in Pre-symptomatic Genetic Frontotemporal Dementia: A Pilot Study.

Pre-symptomatic frontotemporal dementia (FTD) mutation carriers and first-degree family members that are 50% at-risk for FTD may experience symptoms of anxiety and depression as a result of the ambiguity of when or if symptoms of the disease will manifest. We conducted a pilot study to investigate the use of an online mindfulness-based stress reduction (MBSR) course to reduce symptoms of anxiety and depression in presymptomatic frontotemporal dementia (FTD) mutation carriers and individuals 50% at-risk. Seven known mutation carriers and six individuals 50% at-risk completed a standardized 8-week MBSR course, and filled out pre- and post and two-month follow-up questionnaires. The primary outcome measure was the Hospital Anxiety and Depression Scale (HADS). Measures of psychological distress (SCL-90-R), coping style (UCL), quality of life (SF-36) and mindfulness skills (FFMQ) were administered as secondary outcome. Group effects were analyzed with repeated measures ANOVA or Friedman's test, and the individual reliability change index (RCI) was calculated per participant for each outcome measure. Semi-quantitative data included an evaluation and process measure post-intervention. Significant decline was found on the HADS-A post-intervention and after 2 months (p = 0.01), with 54% and 62% of participants demonstrating a clinically significant RCI, respectively. On the HADS-D, significant decline was found 2 months post-intervention (p = 0.04), which was driven by 23% of participants whom had a clinically significant RCI. Additional changes were found between baseline and post-intervention on the seeking distraction and reassuring thoughts subscales of the UCL, the depression and interpersonal sensitivity subscales of the SCL, the observe subscale of the FFMQ, and on physical role limitations of the SF-36 (all p < 0.05). The process evaluation form indicated that the course was found beneficial by participants, and that they applied it in a wide range of everyday situations. This exploratory pilot study indicates the feasibility of MBSR in reducing anxiety and depression in presymptomatic FTD mutation carriers and 50% at-risk individuals. A randomized controlled trial is necessary to replicate these results.

Contributors to and consequences of burnout among clinical genetic counselors in the United States.

Prior research has found that many genetic counselors (GCs) experience burnout. Studies of other clinicians have demonstrated that burnout can have significant detrimental consequences for clinicians, patients, and the healthcare system. We sought to explore the prevalence of, contributors to, and consequences of burnout among GCs. We performed a secondary data analysis of baseline data from Me-GC, a randomized controlled trial of meditation for GCs. We applied a systems model of burnout proposed by the National Academy of Medicine (NAM), which depicts burnout arising from a combination of contributors that include both work system and individual mediating factors, and then leading to consequences. Validated self-report scales were used to measure burnout and most contributors and consequences. Female and white GCs were over-represented in our sample. Over half (57.2%) of the 397 participants had Professional Fulfillment Index scores indicative of burnout. Multiple potential contributors were associated with burnout, consistent with its known multifactorial nature. Among work system factors, higher levels of burnout were associated with insufficient administrative support, lack of autonomy, and not feeling valued by non-GC colleagues. Individual mediating factors associated with greater burnout included higher levels of anxiety, depression, and stress. Participants with lower levels of burnout reported greater mindfulness, resilience, and use of professional self-care behaviors. Among variables categorized as consequences, higher levels of burnout were associated with lower levels of empathy, counseling alliance, and positive unconditional regard, as well as higher reactive distress, and a greater desire to reduce the amount of time spent on clinical care. Given the prevalence and potential consequences of burnout observed here, it is imperative that the field take steps to mitigate burnout risk.

Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

In this review, the national guidelines and recommendations for genetic testing for familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were evaluated as to the inclusion criteria for genetic testing. In all four countries, access to genetic testing relies basically on the family history of breast and ovarian cancer. Similarities are obvious for most selection criteria. All four guidelines recommend embedding genetic testing within a framework of genetic counselling, and all agree to perform genetic testing first in an affected person. However, there are differences regarding the thresholds based on certain familial constellations, detailed description of selection criteria, the degree of relatedness between affected individuals and the counsellee, the age of diagnosis, the individual history of early onset breast cancer, bilateral breast cancer, the tumour morphology or the access to intensified surveillance. These differences and open questions not covered by the guidelines, e.g. on how to deal with phenocopies, unclassified variants, genetic variants in newly identified breast cancer susceptibility genes or with family constellations not fitting the criteria, are discussed. New evidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelines will ensure high quality health care across Europe.

Coordinated multidisciplinary care for Huntington's disease. An outpatient department.

Huntington's disease is characterised by a complex set of motor, neuropsychologic and psychiatric symptoms which start slowly and progress over many years to a state of complete dependency. The symptomatic treatment during the ambulatory years is divers. In the northern part of the Netherlands coordinated multidisciplinary care is offered to patients diagnosed with Huntington's disease. A team of a neurologist, psychologist, occupational therapist, speech and language therapist, social worker and nursing home doctor monitors the patient and companion on a half-year basis and provide them with a plan of care. A case manager coordinates the plan of care in the dwelling place of the patient. In this article this type of care is outlined and illustrated with case histories.

Attachment in families with Huntington's disease. A paradigm in clinical genetics.

OBJECTIVE: Based on the premise that attachment experiences lead to a working model for social relationships throughout life, this study investigates if there is a difference between adult attachment representations in individuals who were brought up by a parent with Huntington's disease (HD), compared to a non-clinical population. Specific events in the parents' disease process, especially those leading to trauma and loss will receive attention. METHODS: Using the Adult Attachment Interview, adult attachment representations were investigated in 32 unaffected adults at 50% risk for HD who were raised by an affected parent. RESULTS: We found a lower percentage of secure attachment representations, a higher percentage of preoccupied representations, and a higher percentage of unresolved/disorganized representations in our sample, compared to a non-clinical population. A relatively late start of the parent's HD career was associated with a secure adult attachment representation. Death of the HD parent before the child's 18th birthday was associated with an unresolved/disorganized adult attachment representation. CONCLUSION: Growing up in a family where one of the parents has Huntington's disease appears to affect the offspring's adult attachment representation. PRACTICE IMPLICATIONS: This study can be of relevance for genetic counselling, as well as for counselling and intervention in childrearing matters.

A hereditary disorder in the family and the family life cycle: Huntington disease as a paradigm.

The implications of predictive DNA-testing for Huntington's Disease (HD) for the transitions in the family life cycle are described. HD is a hereditary disorder leading to personality changes, uncontrollable movements, cognitive impairment, and ultimately death in mostly adults. People at risk have the possibility to detect whether or not they carry the disease provoking-gene, but no treatment is available. In this article, we will highlight the complex implications of pre-symptomatic testing by describing six different cases, interpreted by following the theoretical framework of Carter and McGoldrick (see pp. 684). HD interferes strongly with the "normal" transitions in the life cycle. It is not so much the test result itself that may be disrupting, but the changed expectations and possibilities for the future. As a family disease, HD forces its members to cope, one way or another, with disturbing events and untimely deaths. Some families are able to make some transitions, while becoming blocked at other transition points; this may differ between families. Being able to cope with HD in the family for a certain time does not necessarily imply that problems will never occur. Because any family member may eventually need help, it is important to then help the family discover what hinders them from making the transition to the next life stage, and to resolve these issues so that they can move on.