Myotonic dystrophy: The burden for patients and their partners

Objective: Dystrophia myotonica is characterized by progressive muscular weakness, myotonia, mental slowness and lack of initiative, which causes problems in daily life both for patients and for their spouses. Some couples seem to deal with these problems satisfactorily, while for others they are quite burdensome. The aim of this study was to describe the relationship of severity of dystrophia myotonica and psychological wellbeing in patients and partners. Methods: Sixty-nine couples, in whom one partner had dystrophia myotonica, completed questionnaires on severity of dystrophia myotonica, marital satisfaction, anxiety and depression (Hospital Anxiety and Depression Scale), hopelessness (Beck Hopelessness Scale) and general psychological health (General Health Questionnaire-12). Results: For patients, a worse view of the future, worse general wellbeing, more anxiety and more depression was associated with a greater need for help. For partners, worse general wellbeing and more anxiety was associated with a lack of initiative of the patient and less marital satisfaction. It is noteworthy that 40% of patients and particularly female partners had Beck Hopelessness Scale scores suggestive of clinically relevant depression. Conclusion: Dystrophia myotonica places a heavy burden on patients, and especially on female partners. The need for help and dependency has more influence on the wellbeing of patients than the symptoms of dystrophia myotonica themselves. Marital satisfaction is a strong predictor of better wellbeing, both for patients and, even more so, for partners

Do Attachment Style and Emotion Regulation Strategies Indicate Distress in Predictive Testing?

Predictive genetic testing for a neurogenetic disorder evokes strong emotions, and may lead to distress. The aim of this study is to investigate whether attachment style and emotion regulation strategies are associated with distress in persons who present for predictive testing for a neurogenetic disorder, and whether these psychological traits predict distress after receiving test results. Self-report scales were used to assess attachment insecurity (anxiety and avoidance) and maladaptive emotion regulation strategies (self-blame, rumination, catastrophizing) in adults at 50 % risk for Huntington’s Disease (HD), Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), and Hereditary Cerebral Hemorrhage With Amyloidosis - Dutch type (HCHWA-D), when they presented for predictive testing. Distress was measured before testing and twice (within 2 months and between 6 and 8 months) after receiving test results. Pearson correlations and linear regression were used to analyz

Avoidance as a strategy of (not) coping: qualitative interviews with carers of Huntington's Disease patients

Peer reviewedPublisher PD

Genetic risk estimation by healthcare professionals

OBJECTIVES: To assess whether healthcare professionals correctly incorporate the relevance of a favourable test outcome in a close relative when determining the level of risk for individuals at risk for Huntington's disease. DESIGN AND SETTING: Survey of clinical geneticists and genetic counsellors from 12 centres of clinical genetics (United Kingdom, 6; The Netherlands, 4; Italy, 1; Australia, 1) in May-June 2002. Participants were asked to assess risk of specific individuals in 10 pedigrees, three of which required use of Bayes' theorem. PARTICIPANTS: 71 clinical geneticists and 41 other healthcare professionals involved in genetic counselling. MAIN OUTCOME MEASURES: Proportion of respondents correctly assessing risk in the three target pedigrees; proportion of respondents who were confident of their estimate. RESULTS: 50%-64% of respondents (for the three targets separately) did not include the favourable test information and inc

Dilemmas in counselling females with the fragile X syndrome

The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less severely, females. Affected females have an increased risk of having affected offspring. The counselling of this couple was complicated by their impaired comprehension which subsequently impaired their thinking on the different options. The woman became pregnant and underwent CVS, which showed an affected male fetus. The pregnancy was terminated. Whether nondirective counselling for this couple was the appropriate method is discussed and the importance of a system oriented approach, through involving relatives, is stressed

Psychosocial aspects of preconception consultation in primary care: Lessons from our experience in clinical genetics

To date, little is known about the psychosocial aspects of preconception consultation (PCC) in primary care. PCC in primary care is appropriate for couples and individuals with a reproductive wish. In PCC, non-genetic and genetic risk factors may be identified. Focusing on nongenetic and genetic risk factors in PCC requires the use of different counselling strategies and tools in optimizing the outcome of pregnancy. Addressing lifestyle alterations requires directive counselling, whereas addressing increased genetic risk and its subsequent reproductive options requires non-directiveness. When an increased genetic risk is detected, couples should be informed about their possibilities for not passing on a disease allele. Depending upon the various modes of inheritance and reproductive options, couples may face a variety of psychosocial challenges. This paper aims to provide insights into the psychosocial impact of the genetic aspects of PCC by drawing upon literature and clinical experienc

Individual differences in the temporal relationship between sleep and agitation:a single-subject study in nursing home residents with dementia experiencing sleep disturbance and agitation

OBJECTIVES: Previous studies on the interrelationship between sleep and agitation relied on group-aggregates and so results may not be applicable to individuals. This proof-of-concept study presents the single-subject study design with time series analysis as a method to evaluate the association between sleep and agitation in individual nursing home residents using actigraphy. METHOD: To record activity, three women and two men (aged 78-89 years) wore the MotionWatch 8© (MW8) for 9 consecutive weeks. Total sleep time and agitation were derived from the MW8 data. We performed time series analysis for each individual separately. To gain insight into the experiences with the actigraphy measurements, care staff filled out an investigator-developed questionnaire on their and participants' MW8 experiences. RESULTS: A statistically significant temporal association between sleep and agitation was present in three out of five participants. More agitation was followed by more sleep for participant 1, and by less sleep for participant 4. As for participants 3 and 4, more sleep was followed by more agitation. Two-thirds of the care staff members (16/24) were positive about the use of the MW8. Acceptability of the MW8 was mixed: two residents refused to wear the MW8 thus did not participate, one participant initially experienced the MW8 as somewhat unpleasant, while four participants seemed to experience no substantial problems. CONCLUSION: A single-subject approach with time series analysis can be a valuable tool to gain insight into the temporal relationship between sleep and agitation in individual nursing home residents with dementia experiencing sleep disturbance and agitation