Tibben, A.

Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result (Article)

2012-01-01T00:00:00Z

Background: It has been hypothesized that the Outcomes of DNA testing (O) are better predicted and/or mediated by the counselees' Perception P) than by the actually communicated genetic Information (I). In this study, we aimed at quantifying the effect that perception has in genetic counseling for hereditary breast/ovarian cancer. Methods: Two hundred and four women, who had previously been tested for BRCA1/2, participated in a retrospective questionnaire study; 93% had cancer. Communicated Information (I) consisted of cancer risks and BRCA1/2 test result category: unclassified variant (n = 76), uninformative (n = 76), pathogenic mutation (n = 51). Four perception variables (P) were included: the counselees' recollections and interpretations of both the cancer risks and the likelihood that the cancer in their family is heritable. The Outcome variables (O) included life changes, counselees' medical decisions, BRCA-related self-concept, current psychological well-being, and quality-of-life. Bootstrap mediation analyses determined whether relationships were direct (I→O or P→O) or indirect through the mediation of perception (I→P→O). Results: The actually communicated pathogenic mutation and uninformative result directly predicted medical decisions (I→O), i.e. intended and performed surgery of breasts/ovaries. All other outcomes were only directly predicted by the counselees' perception (recollection and interpretation) of their cancer risks and heredity likelihood (P→O), or this perception mediated the outcome (I→P→O). However, this perception was significantly different from the actually communicated cancer risks (I→P). Unclassified variants were inaccurately perceived (mostly overestimated); this misperception predicted both psychological outcomes and radical medical decisions. Discussion: Genetic counselors need to explicitly address the counselee's interpretations and intended medical decisions. In case of misinterpretations, additional counseling might be offered. Communication of unclassified variants needs special attention given the pitfall of overestimation of risk. Copyright

Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer (Article)

2012-01-01T00:00:00Z

Huntington's disease (HD) is known to have a negative impact on family life. Offspring of HD patients may be exposed to adversity in childhood because of the parent's disease and its psychological consequences. BRCA1/2 hereditary breast and ovarian cancer (BRCA1/2) increases the risk for offspring of being exposed to parental disease or loss. Childhood adversity is associated with psychopathology and various other problems in later life. Adverse childhood experiences (ACEs) before age 16 were assessed in adults at 50% risk for HD (n = 74) or BRCA1/2 (n = 82) and in controls (n = 101), using the Negative Life Events Scale. Mean number and occurrence of ACEs were compared between groups. The odds of having experienced adversity in childhood were higher in HD offspring and BRCA1/2 offspring than in controls. HD offspring reported a higher mean number of ACEs than controls or BRCA1/2 offspring. In HD offspring, the prevalence of parental disease and parental dysfunction experienced before age 16 was higher than in controls. In BRCA1/2 offspring, the prevalence of parental loss before age 16 was higher than in controls. This study indicates that 53% of HD offspring and 45% of BRCA1/2 offspring are exposed to adversity in childhood or adolescence. The relevance of these findings for counseling in predictive testing programs, reproductive decision-making, and child rearing matters is discussed.

Psychological distress in women at risk for hereditary breast cancer: The role of family communication and perceived social support (Article)

2011-12-01T00:00:00Z

Background: Hereditary breast cancer has a profound impact on individual family members and on their mutual communication and interactions. The way at-risk women cope with the threat of hereditary breast cancer may depend on the quality of family communication about hereditary breast cancer and on the perceived social support from family and friends. Objective: To examine the associations of family communication and social support with long-term psychological distress in a group of women at risk for hereditary breast cancer, who opted either for regular breast surveillance or prophylactic surgery. Methods: The study cohort consisted of 222 women at risk for hereditary breast cancer, who previously participated in a study on the psychological consequences of either regular breast cancer surveillance or prophylactic surgery. General and breast cancer specific distress, hereditary cancer-related family communication, perceived social support, and demographics were assessed. Results: Using structural equation modelling, we found that open communication about hereditary cancer within the family was associated with less general and breast cancer specific distress. In addition, perceived support from family and friends was indirectly associated with less general and breast cancer-specific distress through open communication within the family. Discussion: These findings indicate that family communication and perceived social support from friends and family are of paramount importance in the long-term adaptation to being at risk for hereditary breast cancer. Attention for these issues needs to be incorporated in the care of women at risk for hereditary breast cancer. Copyright

The contribution of self-esteem and self-concept in psychological distress in women at risk of hereditary breast cancer (Article)

2011-11-01T00:00:00Z

Objective: Clarification of the role of several aspects of self-concept regarding psychological distress in women at risk of hereditary breast cancer will help to target counselling and psychosocial interventions more appropriately. In this study, we aimed (1) to examine the role of general self-esteem and specific aspects of self-concept (i.e. stigma, vulnerability, and mastery) in psychological distress in women at risk of hereditary breast cancer and (2) to compare the relative importance of these self-concept aspects in psychological distress in women with low versus high self-esteem. Methods: General and breast-cancer-specific distress, self-esteem, self-concept, and demographics were assessed in 246 women being at risk of hereditary breast cancer, who opted either for regular breast surveillance or prophylactic surgery. Results: In the total study group, self-esteem was negatively associated with general distress. Furthermore, feeling stigmatized was strongly associated with more breast-cancer-specific distress, and to a lesser degree with general distress. In women with low-self esteem, feelings of stigmatization were strongly associated with higher levels of both breast-cancer-specific and general distress, while a sense of mastery was associated with less general distress. For women with high self-esteem, feelings of both stigmatization and vulnerability were associated with more breast-cancer-specific distress, whereas there were no significant associations with general distress. Discussion: Psychosocial interventions or support groups for women at risk of hereditary breast cancer should focus on self-esteem and feelings of stigmatization and isolation, and consequently tailor the interventions on specific items for respective women.

The short-term psychological impact of complications after breast reconstruction (Article)

2011-10-31T00:00:00Z

Objectives: Few studies have focused on the psychological impact of postoperative complications after breast reconstruction (BR). As postoperative complications after BR usually lead to a prolonged recovery time and sometimes require additional surgery, the short-term impact on distress was investigated. Methods: Pre- and postoperatively, psychological questionnaires were sent to 152 women who underwent either implant BR or deep inferior epigastric artery perforator flap BR (DIEPBR). In addition, patients and physicians' reports of postoperative complications during the first 4-6 weeks after BR were scored. The course of anxiety, depression and cancer-specific distress, and the effect of complications on distress were investigated. Results: Implant BR patients reported decreased anxiety after surgery, and both groups reported reduced cancer-specific distress after surgery. However, depressive symptoms tended to increase after DIEPBR. If complications occurred, both reconstruction groups reported increased depressive and anxiety symptoms, and DIEPBR patients even had depressive symptoms of clinical concern. A significant number of patients with complications reported alarming levels of distress. Timing and laterality were not significantly correlated with distress. Conclusions: Complications after BR have a significant impact on emotional well-being shortly after surgery. As distress affects quality of life and health outcomes, it is of great importance to offer psychological support to these patients. Distress can be evaluated by monitoring the emotional impact of BR during post-surgery consults, or with the standard use of short psychological questionnaires that patients can complete at home.

Information-seeking behaviour and coping style of women opting for either implant or DIEP-flap breast reconstruction (Article)

2011-09-01T00:00:00Z

Background: High satisfaction rates have been reported after autologous breast reconstruction. Yet, most mastectomy patients receive implant reconstructions (ImBR). Independent and active decision makers have shown mainly to choose for autologous reconstructions, such as the Deep inferior epigastric perforator (DIEP) flap (DiepBR). To further explore the decision making to opt for either ImBR or DiepBR, we investigated patient knowledge, informational resources used, effect of plastic surgeons' advice, coping style and personal independence. Methods: A total of 153 women, who were planned for DiepBR or ImBR preoperatively, completed a study-specific and standardised validated psychological questionnaire. Analyses were aimed at information-seeking behaviour, personal independence and coping styles associated with autonomous decision making regarding reconstruction. Results: DiepBR women reported different informational resources to be very important and they were more active information seekers, compared with ImBR women. ImBR women found their physician's advice to be more important in their decision making than DiepBR women. Actively seeking for information regarding BR was positively correlated with active coping, sensitivity to others and the decision for DIEP-flap BR. Conclusions: Women opting for DIEP-flap BR were more active and independent in their decision making regarding the type of BR. Women opting for implant BR seemed less well-informed and more dependent on their physician in their decision compared with women opting for DIEP-flap BR. To undergo a complex type of BR, active and independent information seeking may be required. However, clinical and logistic characteristics need to be considered, as some patients were limited in their reconstruction options.

A counselee-oriented perspective on risk communication in genetic counseling: Explaining the inaccuracy of the counselees' risk perception shortly after BRCA1/2 test result disclosure (Article)

2011-09-01T00:00:00Z

PURPOSE: Genetic counseling may help counselees understand their genetic risk of developing breast/ovarian cancer. However, many studies have shown that their perception of their risks is inaccurate. Information-oriented variables often predicted the level of accuracy, focusing on specific processes of receiving and processing risks. We examined counselee-oriented predictors about how counselees embed cancer risks in their lives. These predictors reflect the personal meaning of genetic risks and are expected to explain/mediate the impact of genetic counseling on risk-perception-accuracy. METHOD: We analyzed 248 questionnaires of a prospective study, filled in by probands with breast/ovarian cancer and pathogenic mutations, unclassified variants, or uninformative results (n = 30, 16, and 202, respectively). Mediation regression analyses were performed to examine whether counselee predictors mediated/explained the influence of information predictors on the accuracy. Information-oriented predictors regarded presentation format, communicated information, question format, education, pedigree information, cancer experience, and cognitive processes/heuristics. Counselee-oriented predictors regarded their self/personality, life/existence, and need for certainty about DNA test result, heredity, and cancer. RESULTS: Both information-oriented and counselee-oriented variables significantly predicted the accuracy of the counselees' risk perception, with moderate to large effect sizes. Counselee-oriented variables completely mediated/explained the effects of information-oriented variables on the accuracy. DISCUSSION: Counselees seemed to transform objective cancer risks into personally relevant information. Only through this personal meaning of genetic information, information-oriented processes seemed to cause inaccurate perceptions. Genetic counselors are suggested to focus communication on these personal processes.

Familial breast cancer: Is it time to move from a reactive to a proactive role? (Article)

2011-09-01T00:00:00Z

In 2004 the NICE guidelines on familial breast cancer advised Health Care Professionals that they should not actively seek to identify women with a family history of breast cancer. We have carried out a review of the evidence base and a large scale questionnaire survey of health professionals in four European countries. There is overwhelming support amongst GPs and surgeons against the premise that that health care professionals should not be proactive in identifying patients at risk of familial breast cancer. This that suggest the time is right to overturn the NICE decision.

Exploring the short-term impact of DNA-testing in breast cancer patients: The counselees' perception matters, but the actual BRCA1/2 result does not (Article)

2011-06-20T00:00:00Z

Objective: Previous studies suggest that learning a DNA-test-result has no direct impact on the medical-decisions and psychological well-being of counselees. Their perception, especially their recollections and interpretations of their cancer-risks and heredity, predict and/or mediate this impact. These studies were criticized for their small range of predictors, mediators, outcomes and contextual factors. We studied the short-term impact of DNA-testing with an extended model. Methods: Three months after disclosure of BRCA1/2-test-results, we sent counselees a questionnaire about their perception, medical and psychological outcomes, and medical, familial and psychological contexts. 248 affected women participated; 30 had received pathogenic-mutations, 16 unclassified-variants and 202 uninformative-results. Results: The actually communicated genetic-information and the contextual variables predicted the counselees' perception, but did not directly predict any outcomes. The counselees' perception predicted and/or completely mediated the counselees' medical intentions and behavior, physical and psychological life-changes, stigma, mastery, negativity and cancer-worries. Short-term distress was related to the perception not only of their own risks, but also of their relatives' risks and heredity-likelihood. Effect sizes were medium to large. Conclusions and implications: The outcomes of DNA-testing were better predicted by the counselees' perception than by the actually given genetic-information. We recommend genetic-counselors to have tailored, interactive dialogues about the counselees' perception.

Genetic testing for familial/hereditary breast cancer - Comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany (Article)

2011-06-01T00:00:00Z

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.

Women's motives to opt for either implant or DIEP-flap breast reconstruction (Article)

2011-04-21T00:00:00Z

Objective: Understanding women's motives concerning breast reconstructive surgery will contribute to a better counselling and care for the increasing number of women choosing post-mastectomy breast reconstruction (BR). Methods: We interviewed 31 women who opted for implant or deep inferior epigastric perforator (DIEP)-flap BR after therapeutic or prophylactic mastectomy. Motives for BR in general and for the selected type of BR were investigated following a phenomenological qualitative research approach. Results: Women opting for implant BR were concerned with surgery-related issues, such as recovery time, number of scars and impact of surgery. They wanted to return to their daily life and restore their body image as soon as possible. Patients choosing DIEP-flap BR were more focussed on regaining a natural breast and wanted to benefit from the advantages of autologous tissue. Women scheduled for prophylactic mastectomy saw BR as an integral part of their treatment. Patients opting for BR after therapeutic mastectomy wanted to regain a complete body image with BR. Conclusions: Patients' motives for implant BR were primarily related to surgical issues, whereas women who chose DIEP-flap BR especially focussed on regaining a breast that resembles their own lost breast as well as possible. Clinical variables (such as therapeutic or prophylactic mastectomy, breast irradiation, and waiting lists) need to be taken into account when considering a certain type of BR, as these can be of great importance in the decision-making process.

A whisper-game perspective on the family communication of DNA-test results: A retrospective study on the communication process of BRCA1/2-test results between proband and relatives (Article)

2011-03-01T00:00:00Z

Objective of this paper is to study how DNA-test result information was communicated and perceived within families. A retrospective descriptive study in 13 probands with a BRCA1/2 unclassified variant, 7 with a pathogenic mutation, 5 with an uninformative result, and in 44, 14, and 12 of their 1st and 2nd degree relatives respectively. We examined differences and correlations between: (a) information actually communicated (b) probands' perception, (c) relatives' perception. The perception consisted of recollections and interpretations of both their own and their relatives' cancer-risks, and heredity-likelihood (i.e. likelihood that cancer is heritable in the family). Differences and low correlations suggested few similarities between the actually communicated information, the probands' and the relatives' perception. More specifically, probands recalled the communicated information differently compared with the actually communicated information (R = .40), and reinterpreted this information differently (R = .30). The relatives' perception was best correlated with the proband's interpretation (R = .08), but this perception differed significantly from their proband's perception. Finally, relatives reinterpreted the information they received from their proband differently (R = .25), and this interpretation was only slightly related with the original message communicated by the genetic-counsellor (R = .15). Unclassified-variants were most frequently misinterpreted by probands and relatives, and had the largest differences between probands' and relatives' perceptions. Like in a children's whisper-game, many errors occur in the transmission of DNA-test result information in families. More attention is required for how probands disseminate information to relatives. Genetic-counsellors may help by supporting the probands in communicating to relatives, e.g. by providing clear summary letters for relatives.

Perceiving cancer-risks and heredity-likelihood in genetic-counseling: How counselees recall and interpret BRCA 1/2-test results (Article)

2011-03-01T00:00:00Z

Previous studies on the counsellees' perception of DNA test results did not clarify whether counsellees were asked about their recollections or interpretations, and focused only on patients' own risks and not on the likelihood that cancer is heritable in the family. We tested differences and correlations of four perception aspects: recollections and interpretations of both cancer risks and heredity likelihood. In a retrospective study, women tested for BRCA1/2 on average, 5 years ago, completed questionnaires about their perception. Participants had received an unclassified variant (n = 76), uninformative (n = 76) or pathogenic mutation (n = 51) result in BRCA1/2. Analyses included t-tests, correlations and structural equation modelling. The counsellees' perception showed to consist of four distinctive phenomena: recollections and interpretations of cancer risks and of heredity likelihood. This distinctiveness was suggested by significant differences between these perception variables. Moderate to strong correlations were found between these variables, suggesting that these differences between variables were consistent. The relationships between these variables were not influenced by actually communicated DNA test results, sociodemographics, medical and pedigree information, or framing of cancer risk questions. The largest differences between recollections and interpretations were found in the unclassified variant group and the smallest in uninformatives. Cancer risks and heredity likelihood correlated least in the pathogenic mutation group. Communication of ambiguous genetic information enlarged the differences. To understand the counsellees' perception of genetic counselling, researchers should study recollections and interpretations of cancer risks and heredity likelihood. Genetic counsellors should explicitly address the counsellees' recollections and interpretations, and be aware of possible inaccuracies.

Distress in partners of high-risk women undergoing breast cancer surveillance (Article)

2010-12-01T00:00:00Z

Background: Partners are an importance source of support for women at risk for hereditary breast cancer. The impact of regular breast cancer surveillance in at-risk women on psychological distress in the partners of these women is unknown. This study aimed to (1) examine the levels and courses of psychological distress of partners and high-risk women around breast cancer surveillance appointments at the clinic, (2) to explore the relationship between partners' and women's distress, and (3) to identify factors that were associated with distress in partners. Methods: Partners of 77 high-risk women adhering to breast cancer surveillance, and participating in a psychological follow-up study, completed questionnaires measuring psychological distress 2 months before (T0), on the day of (T1) and 1 to 4 weeks after (T2) two consecutive biannual appointments for the women at the clinic. Results: Partners' breast cancer-specific distress was positively related to the women's cancer-specific distress prior to breast cancer surveillance. Fatherhood and affective risk perception were positively associated with distress in partners. Conclusions: Our findings indicate that the psychological distress associated with stressful waiting for the breast cancer surveillance appointment, and - after the appointment - for the results, is an interpersonal experience, which is shared within the couple. These findings underscore the importance of involving partners in the clinical interventions for high-risk women. Clinicians should address the affective risk perception of partners, i.e. how they experience the increased breast cancer risk of the woman.

Turkish female immigrants' intentions to participate in preconception carrier screening for hemoglobinopathies in the Netherlands: An empirical study (Article)

2010-12-01T00:00:00Z

Background: Preconception carrier screening for hemoglobinopathies (HbPs) is debated in the Netherlands. Objectives: Intentions to participate in preconception carrier screening for HbPs as well as informed reproductive options were assessed in 109 Turkish female immigrants. Method: Participants completed a structured questionnaire. Results: 83.5% of 109 Turkish female immigrants intended to participate in preconception carrier screening. Intention to participate was related to the desire to reduce uncertainty about having offspring affected by HbPs, but not with socio-demographic variables, risk-estimation and worrying. If the tests concerning carrier status for HbPs were confirmative for both partners, 36.3% (n = 33) of the women with the intention of preconception carrier screening would refrain from getting children of their own, including 14.3% (n = 13) opting for adoption, 37.4% (n = 34) would decide to become pregnant and to opt for prenatal testing on HbPs. Finally, among 37.4% of the women opting for prenatal testing, 30.3% (n = 10) would terminate an affected pregnancy, 18.2% (n = 6) not and 51.5% (n = 17) could not decide (1 missing value). Conclusion: A large majority of Turkish female immigrants would participate in preconception carrier screening for HbPs. Copyright

Myotonic dystrophy: The burden for patients and their partners (Article)

2010-10-01T00:00:00Z

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.

Italian appeal court: A genetic predisposition to commit murder (Article)

2010-05-01T00:00:00Z

A few months ago, the controversial debate on connection between genetic variants and antisocial behaviour gained renewed prominence after the sentence of an Italian judge who decided to further reduce the prison sentence of a person convicted of murder by 1 year-from 9 to 8 years-because he was found to be a carrier of a few genetic variants thought to be associated with a predisposition to aggressiveness. We discuss the social implication of this view, the lack of evidence of the clinical utility of this test, and in particular the risks of offering susceptibility testing in the context of legal proceedings.

Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic (Article)

2009-10-01T00:00:00Z

PURPOSE: Effective communication of DNA-test results requires a sound terminology. However, the variety of terms in literature for DNA-test results other than pathogenic, may create inconsistencies between professionals, and misunderstanding in patients. Therefore, we conducted a theoretical and empirical analysis of the terms most frequently used in articles between 2002 and 2007 for BRCA 1/2-test results other than pathogenic. DESIGN: We analyzed the content validity of the no-pathogenic DNA-test result-terms by comparing the literal and intended meaning of the terms and by examining their clarity and the inclusion of all relevant information. We analyzed the reliability of the terms by measuring the strength of association between terms and their meanings and the consistency among different authors over time. RESULTS: Two hundred twenty-seven articles with 361 no-pathogenic DNA-test result-terms were found. Only two terms seemed to have acceptable validity: variant of uncertain clinical significance and no-pathogenic-DNA-test-result. Only variant of uncertain clinical significance and true negative were found to be used reliably in the literature. CONCLUSIONS: Current DNA nomenclature lacks validity and reliability. Transparent DNA-test result terminology should be developed covering both laboratory findings and clinical meaning.

A decade of genetic counseling in frontotemporal dementia affected families: Few counseling requests and much familial opposition to testing (Article)

2009-08-01T00:00:00Z

A decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical Center in the Netherlands. Second, FTD at-risk counselees reported substantial familial opposition to genetic testing, which is distinct from the attitude in Huntington Disease affected families. We hypothesize that the low acceptance for FTD genetic counseling is consequential to the familial opposition and explain this within the theoretical framework of separation-individuation. Furthermore, we hypothesize that separation- individuation problems do not similarly influence the acceptance of HD genetic counseling, due to the educative role of the well-organised patient organization for HD in the Netherlands. We offer counseling recommendations that serve to facilitate the individuation of the counselee with respect to the FTD genetic test.

Sense of competence in a Dutch sample of informal caregivers of frontotemporal dementia patients (Article)

2009-04-01T00:00:00Z

Objective: The sense of competence (SC) of informal caregivers of frontotemporal dementia (FTD) patients is important for their task but has rarely been assessed. Here, the relationship between caregiver burden and SC and the differential value of SC in understanding caregiver suffering were studied. Methods: At 24 months of follow-up patient behavioural problems, dementia severity, caregiver SC, burden, psychological complaints and quality of life were inspected cross-sectionally in 46 caregiver/care recipient dyads. Results: SC was unrelated to dementia severity and patient behavioural problems. Principal component analysis of SC revealed 3 dimensions: 'emotions', 'attributions' and 'sacrifice'. Sacrificing one's personal life to caregiving was associated with more psychological complaints and a worse physical and mental quality of life, as found in structural equation modelling. Conclusions: Caregiver suffering comprised an unbalance between self-care and caring for the FTD patient. FTD caregivers may benefit from psycho-education on self-care and methods to create time for their personal needs.

Frontotemporal dementia (FTD) patients living at home and their spousal caregivers compared with institutionalized FTD patients and their spousal caregivers: Which characteristics are associated with in-home care? (Article)

2009-02-12T00:00:00Z

Patients with frontotemporal dementia (FTD) need complete care in the final stages of the disease. Some informal caregivers continue the in-home care whereas others institutionalize. This study identifies differences between in-home FTD patients and their caregivers (FTDH) and institutionalized FTD patients (FTDN) and their caregivers. Twelve in-home and 24 institutionalized FTD patients in the final stages of the disease, and their spousal caregivers, were observed. Neuropsychiatric function disorders, dementia duration and severity, burden, mental and physical health, quality of the current and premorbid relationship and caregiver motivation were analysed. The majority of FTDH patients had dementia of shorter duration and showed residual independence. In FTDH patients, neuropsychiatric symptoms were more often present whereas apathy and disinhibition were more intense in FTDN patients. FTDH caregivers felt more emotionally burdened but had better mental health. Caregiver motivations were similarly present in FTDH and FTDN caregivers, while the love-motivated caregivers had worse physical and mental health. Our data suggest that all FTD caregivers could benefit from psychological support. Motivation for caregiving has intervention potential.

Predictive genetic testing for cardiovascular diseases: Impact on carrier children (Article)

2008-12-15T00:00:00Z

We studied the experiences of children identified by family screening who were found to be a mutation carrier for a genetic cardiovascular disease (Long QT Syndrome (LQTS), Hypertrophic Cardiomyopathy (HCM), Familial Hypercholesterolemia (FH)). We addressed the (a) manner in which they perceive their carrier status, (b) impact on their daily lives, and (c) strategy used to cope with these consequences. Children (aged 8-18) who tested positive for LQTS (n = 11), HCM (n = 6) or FH (n = 16), and their parents participated in semi-structured audiotaped interviews. Interview topics included illness perception, use of medication, lifestyle modifications, worries, and coping. Each interview was coded by two researchers. The qualitative analysis was guided by Leventhal's model of self-regulation. The children were overall quite articulate about the disease they were tested for, including its mode of inheritance. They expressed positive future health perceptions, but feelings of controllability varied. Adherence and side-effects were significant themes with regard to medication-use. Refraining from activities and maintaining a non-fat diet were themes concerning lifestyle modifications. Some children spontaneously reported worries about the possibility of dying and frustration about being different from peers. Children coped with these worries by expressing faith in the effectiveness of medication, trying to be similar to peers or, in contrast, emphasizing their "being different." Children generally appeared effective in the way they coped with their carrier status and its implications. Nevertheless, dealing with the daily implications of their condition remains difficult in some situations, warranting continued availability of psychosocial support.

Frontotemporal dementia: Change of familial caregiver burden and partner relation in a Dutch cohort of 63 patients (Article)

2008-11-01T00:00:00Z

Background/Aims: The current study examined the change of caregiver burden and the development of the quality of the partner relation in frontotemporal dementia (FTD). Methods: During a 2-year period, deterioration, behavioural problems, caregiver burden, general psychopathology, quality of life, social support, coping strategies and relationship quality were inspected in 63 FTD caregiver-care recipient dyads. Results: After 2 years patients reached maximum dementia severity with stable Neuropsychiatric Inventory levels. Contrary to expectations, caregiver burden decreased and psychological well-being remained stable. Coping style and social support changed unfavourably. Relationship closeness and getting along were preserved, whereas communication and sharing viewpoint on life were dramatically reduced. Conclusions: FTD caregivers need support in coping with the increasingly hopeless situation of their patients. Future research methods into caregiver burden should address response shift as a means for psychological adjustment. Copyright

Genetic testing in familial melanoma: Uptake and implications (Article)

2008-08-01T00:00:00Z

Objective: We report on the uptake and psychological impact of p16-Leiden genetic testing to contribute to a greater understanding of counseling melanoma families. Methods: Within a defined research setting, genetic counseling and testing were offered to members of p16-Leiden-positive melanoma pedigrees, at risk of carrying a gene defect associated with an increased risk of melanoma and pancreatic cancer. Results: One hundred and eighty-four individuals sought counseling, of which 141 (77%) opted for genetic testing. Uptake of genetic counseling and testing, and psychological motivation was evaluated in 94 (57%) individuals. Higher pre-test risk of carrying the mutation and older age proved significantly predictive for counseling uptake. Age was predictive for test acceptance, whereas fearful test expectancies predicted test decline. Counselees had lower distress levels than those reported in other oncogenetic testing settings. Conclusion: We are the first to report on genetic testing for familial melanoma. Following the first counseling session, we found a relatively high uptake rate for p16-Leiden testing and no clinically worrisome levels of distress. Copyright

Estimating decreased risks for Huntington disease without a test (Article)

2008-04-01T00:00:00Z

The majority of individuals at risk for Huntington disease (HD) is afraid to learn more precisely about their genetic status, as is suggested by the low uptake of the predictive test for HD. Subsequently, the future expectancies of individuals at risk are often based on rough risk estimates such as 50% (child of an affected individual) or 25% (grandchild). Individuals at risk can be offered a better risk estimate based on their current age, length of the disease causing CAG-repeat in the HD gene in close relatives, information on the age at onset, or test results of children. Regression modelling and Cox regression determined relations between ages at onset and CAG repeat length in a sample of 755 tested individuals. A model for calculating the adjusted residual risk status was constructed and implemented in a spreadsheet that can be used in genetic counselling. This model and accompanying spreadsheet broadens the information repertoire for genetic counsellors by providing an optimal estimation of the residual risk status.

High satisfaction rates in women after DIEP flap breast reconstruction (Article)

2008-01-01T00:00:00Z

Background: Breast reconstruction (BR) is aimed at improving quality of life (QoL) after mastectomy. Patient satisfaction is an important indicator to evaluate the success of BR. This study explored patient satisfaction and its determinants in women undergoing deep inferior epigastric artery perforator (DIEP) flap BR as well as the impact of the procedure on body image, sexuality and QoL. Methods: Patient satisfaction and QoL were studied in 72 women who underwent DIEP flap BR using a study-specific questionnaire as well as the Short Form-36 (SF-36). Results: Patient satisfaction was very high. Approximately 90% of the patients reported that they had been sufficiently informed about the procedure and its consequences, that their preoperative expectations had been met, that the reconstructed breast felt like their own and that they would choose the same procedure again and would recommend this procedure to a friend. Patient satisfaction was positively and significantly related to the reconstructed breast(s) feeling like their own. Women with secondary reconstructions were more positive about changes in sexuality and femininity than women with primary BRs. There were no clinically relevant differences in QoL between our study population and a random sample of Dutch females. Conclusions: Women with DIEP flap BRs reported high satisfaction rates. However, to compare these satisfaction rates with other forms of BR, prospective studies in comparable groups are necessary.

The common sense model of self-regulation and psychological adjustment to predictive genetic testing: A prospective study (Article)

2007-12-01T00:00:00Z

This prospective study explored the contribution of illness representations and coping to cancer-related distress in unaffected individuals undergoing predictive genetic testing for an identified mutation in BRCA1/2 (BReast CAncer) or an HNPCC (Hereditary Nonpolyposis Colorectal Cancer)-related gene, based on the common sense model of self-regulation. Coping with hereditary cancer (UCL), illness representations (IPQ-R) and risk perception were assessed in 235 unaffected applicants for genetic testing before test result disclosure. Hereditary cancer distress (IES) and cancer worry (CWS) were assessed before, 2 weeks after and 6 months after result disclosure. Timeline (r = 0.30), consequences (r = 0.25), illness coherence (r = 0.21) and risk perception (r = 0.20) were significantly correlated to passive coping. Passive coping predicted hereditary cancer distress and cancer worry from pre-test (β= 0.46 and 0.42, respectively) up to 6 months after result disclosure (β= 0.32 and 0.19, respectively), Illness coherence predicted hereditary cancer distress up to 6 months after result disclosure (β= 0.24), too. The self-regulatory model may be useful to predict the cognitive and emotional reactions to genetic cancer susceptibility testing. Identifying unhelpful representations and cognitive restructuring may be appropriate interventions to help distressed individuals undergoing genetic susceptibility testing for a BRCA1/2 or a HNPCC-related mutation. Copyright

Passive coping and psychological distress in women adhering to regular breast cancer surveillance (Article)

2007-09-01T00:00:00Z

Since 2000 the MRISC study evaluates the psychological consequences of regular breast cancer surveillance for women at increased risk for hereditary breast cancer. Coping style way influence these psychological consequences. In a cohort of 357 women at increased risk for hereditary breast cancer, the impact of coping styles on the course, divided into level and trend of psychological distress (general and breast cancer specific) was examined, around two consecutive surveillance appointments. With structural equation modelling we found passive coping to be associated with higher levels of both general and breast cancer specific distress. Seeking social support, expression of emotions and thinking comforting thoughts were associated with lower levels of psychological distress. Coping style was not associated with the trend of psychological distress around the two surveillance appointments. it is recommendable to take coping styles into account when counselling these high-risk women. Copyright

A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships (Article)

2007-04-01T00:00:00Z

This study assessed the impact of genetic testing for cancer susceptibility on family relationships and determinants of adverse consequences for family relationships. Applicants for genetic testing of a known familial pathogenic mutation in BRCA1/2 or a HNPCC related gene (N=271) rated the prevalence and nature of changes in family relationships, familial difficulties and conflicts due to genetic testing 6 months after receiving the test result. The level of family functioning, differentiation from parents, support and familial communication style regarding hereditary cancer were assessed before receiving the test result. Genetic testing affected some family relationships in a positive way (37%), i.e. by feeling closer, improved communication and support, more appreciation of the relative and relief of negative test result. A minority reported unwanted changes in relationships (19%), problematic situations (13%) or conflicts (4%). Adverse effects comprised feelings of guilt towards children and carrier siblings, imposed secrecy and communication problems. Predictors of adverse consequences on family relationships were reluctance to communicate about hereditary cancer with relatives and disengaged-rigid or enmeshed-chaotic family functioning. Open communication between relatives should be stimulated because a lack of open communication may be an important determinant of familial adverse effects. Copyright

Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: A prospective study (Article)

2007-01-01T00:00:00Z

This study examined prospectively the contribution of family functioning, differentiation to parents, family communication and support from relatives to psychological distress in individuals undergoing genetic susceptibility testing for a known familial pathogenic BRCA1/2 or Hereditary nonpolyposis colorectal cancer-related mutation. Family functioning, differentiation to parents, hereditary cancer-related family communication and perceived support from relatives were assessed in 271 participants for genetic testing before test result disclosure. Hereditary cancer distress (assessed by the Impact of Event Scale) and cancer worry (assessed by the Cancer Worry Scale) were assessed before, 1 week after, and 6 months after test result disclosure. Participants reporting more cancer-related distress over the study period more frequently perceived the communication about hereditary cancer with relatives as inhibited, the nuclear family functioning as disengaged-rigid or enmeshed-chaotic, the support from partner as less than adequate and the relationship to mother as less differentiated. Especially, open communication regarding hereditary cancer and partner support may be important buffers against hereditary cancer distress. Identifying individuals with insufficient sources of support and addressing the family communication concerning hereditary cancer in genetic counseling may help the counselee to adjust better to genetic testing.

Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress (Article)

2007-01-01T00:00:00Z

Objective: To study differences between individuals opting for genetic cancer susceptibility testing of a known familial BRCA1/2 and HNPCC related germline mutation. Methods: Coping, illness perceptions, experiences with cancer in relatives and family system characteristics were assessed in 271 applicants for genetic testing before test result disclosure. Hereditary cancer distress, worry and cancer risk perception were assessed before, 1 week after, and 6 months after disclosure. Results: Individuals from BRCA1/2 and HNPCC mutation families did not differ with regard to the number of experiences with cancer in relatives, grief symptoms, the course of cancer distress, worry and risk perception through time and most illness perceptions, coping responses and family characteristics. Individuals from BRCA1/2 families perceived hereditary cancer as more serious. They reported more frequently a passive coping style, cancer worry and a less open communication with their partner and children. Conclusion: Besides subtle differences, psychological mechanisms may be mainly identical in individuals opting for BRCA1/2 and HNPCC susceptibility testing. Practice implications: Based on our findings, using a similar counseling approach for individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing is justified. In this approach, attention should be directed more to individual aspects than to the type of disorder.

Prognostic factors for hereditary cancer distress six months after BRCA1/2 or HNPCC genetic susceptibility testing (Article)

2007-01-01T00:00:00Z

This study explored predictors for hereditary cancer distress six months after genetic susceptibility testing for a known familial BRCA1/2 or HNPCC related mutation, in order to gain insight into aspects relevant for the identification of individuals needing additional psychosocial support. Coping, illness representations, experiences with cancer in relatives and family system characteristics were assessed in 271 applicants for genetic testing before result disclosure. Hereditary cancer distress was assessed prospectively up to six months after disclosure. Regression analysis revealed that the pretest level of distress, complicated grief, the number of affected first-degree relatives and strong emotional illness representations were factors that best explained hereditary cancer distress. Other significant predictors were illness coherence, passive coping, distraction seeking, being aged <13 years when a parent was affected by cancer and family communication. Individuals who may benefit from additional support may be identified before result disclosure using a short instrument assessing the relevant aspects.

The course of distress in women at increased risk of breast and ovarian cancer due to an (identified) genetic susceptibility who opt for prophylactic mastectomy and/or salpingo-oophorectomy (Article)

2007-01-01T00:00:00Z

The levels and course of psychological distress before and after prophylactic mastectomy (PM) and/or prophylactic salpingo-oophorectomy (PSO) were studied in a group of 78 women. General distress was measured through the hospital anxiety and depression scale (HADS), cancer-related distress using the impact of events scale (IES). Measurement moments were baseline (2-4 weeks prior to prophylactic surgery), and 6 and 12 months post-surgery. After PM, anxiety and cancer-related distress were significantly reduced, whereas no significant changes in distress scores were observed after PSO. At one year after prophylactic surgery, a substantial amount of women remained at clinically relevant increased levels of cancer-related distress and anxiety. We conclude that most women can undergo PM and/or PSO without developing major emotional distress. More research is needed to further define the characteristics of the women who continue to have clinically relevant increased scores after surgery, in order to offer them additional counselling.

Genetic risk estimation by healthcare professionals (Article)

2005-01-01T00:00:00Z

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 incorrectly estimated the risks as being about equal to the prior risks; 77%-91% of these respondents were "sure" or "completely sure" that their estimations were correct. Twenty of the 112 respondents correctly estimated the risks for all three target pedigrees. CONCLUSIONS: Clinical geneticists and genetic counsellors frequently use prior risks in situations where Bayes' theorem should be applied, leading to overestimations of the risk for an individual.

Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692) (Article)

2000-01-01T00:00:00Z

Several mutations in the amyloid precursor protein (APP) gene may lead to either Alzheimer's disease or cerebral haemorrhage due to congophilic amyloid angiopathy (CAA). A single family is known in which both types of pathology are expressed because of a missense mutation at codon 692 of the APP gene (APP692). Here we describe the clinical and pathological expression of APP692 in eight patients with the mutation. Furthermore, 21 first-degree relatives with an a priori risk of 50% of being a carrier were tested for the APP692 mutation and studied for presymptomatic signs by neurological examination, neuropsychological testing and brain MRI. Patients with APP692 presented with haemorrhage, dementia or both. The dementia in patients with the APP692 mutation was compatible with Alzheimer's disease both clinically and neuropathologically. Of the 21 healthy relatives at 50% risk, five carried the APP692 mutation. The presymptomatic carriers showed a subtle, non-significant impairment of cognitive function compared with relatives without APP692. A significant increase in the number of periventricular and subcortical white matter lesions at young age was seen in presymptomatic carriers (mean age 26.4 years). The findings of this study suggest that a single (genetic) mechanism may underlie the pathology of Alzheimer's disease and CAA. These diseases are manifested subclinically by white matter pathology. Further insight into the relationship between CAA and Alzheimer's disease may provide clues about the aetiology of Alzheimer's disease.

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands (Article)

1999-01-01T00:00:00Z

Mutations in microtubule-associated protein tau recently have been identified in familial cases of frontotemporal dementia (FTD). We report the frequency of tau mutations in a large population-based study of FTD carried out in the Netherlands from January 1994 to June 1998. Thirty-seven patients had >/=1 first-degree relative with dementia. A mutation in the tau gene was found in 17.8% of the group of patients with FTD and in 43% of patients with FTD who also had a positive family history of FTD. Three distinct missense mutations (G272V, P301L, R406W) accounted for 15.6% of the mutations. These three missense mutations, and a single amino acid deletion (DeltaK280) that was detected in one patient, strongly reduce the ability of tau to promote microtubule assembly. We also found an intronic mutation at position +33 after exon 9, which is likely to affect the alternative splicing of tau. Tau mutations are responsible for a large proportion of familial FTD cases; however, there are also families with FTD in which no mutations in tau have been found, which indicates locus and/or allelic heterogeneity. The different tau mutations may result in disturbances in the interactions of the protein tau with microtubules, resulting in hyperphosphorylation of tau protein, assembly into filaments, and subsequent cell death.

Dilemmas in counselling females with the fragile X syndrome (Article)

1999-01-01T00:00:00Z

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.

Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? Rotterdam/Leiden Genetics Working Group (Article)

1999-01-01T00:00:00Z

Presymptomatic DNA testing for autosomal dominant hereditary breast/ovarian cancer (HBOC) became an option after the identification of the BRCA1 and BRCA2 genes in 1994-1995. Healthy female mutation carriers have a high lifetime risk for breast cancer (56-87%) or ovarian cancer (10-60%) and may opt for intensive breast and ovary surveillance or prophylactic surgery (mastectomy/oophorectomy).We studied general and cancer related distress in 85 healthy women with a 25% or 50% risk of being carrier of a BRCA1/BRCA2 gene mutation and 66 partners in the six to eight week period between genetic counselling/blood sampling and disclosure of the test result. Questionnaire and interview data are analysed. Associations are explored between levels of distress and (1) expected consequences of being identified as a mutation carrier, (2) personality traits, (3) sociodemographic variables, and (4) experiences related to HBOC.Mean pre-test anxiety and depression levels in women at risk of being a carrier and partners were similar to those of a normal Dutch population. In about 25% of those at risk of being a carrier and 10% of the partners, increased to high levels of general and cancer related distress were found. Increased levels of distress were reported by women who (1) anticipated an increase in problems after an unfavourable test outcome, (2) considered prophylactic mastectomy if found to be mutation carrier, (3) had an unoptimistic personality, (4) tended to suppress their emotions, (5) were younger than 40 years, and (6) were more familiar with the serious consequences of HBOC. Recently obtained awareness of the genetic nature of cancer in the family was not predictive of distress.The majority of the women and their partners experienced a relatively calm period before the disclosure of the test result and seemed to postpone distressing thoughts until the week of disclosure of the result. The low distress levels may partly be explained by the use of strategies to minimise the emotional impact of a possibly unfavourable test outcome. However, a minority reported feeling very distressed. Several factors were found to be predictive for increased distress levels.

Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. (Article)

1997-01-01T00:00:00Z

Hereditary frontotemporal dementia (HFTD) is a rare autosomal dominant form of presenile dementia characterized by behavioral changes and reduced speech. Three multigeneration kindreds with this condition, in the Netherlands, were investigated for clinicopathological comparison and linkage analysis. Frontotemporal atrophy on computed tomographic scanning and/or magnetic resonance imaging was usually present. Single-photon emission computed tomography (SPECT) showed frontal hypoperfusion in the early phase of the disease. Brain tissue showed moderate to severe atrophy of frontal and temporal cortex with neuronal loss, gliosis, and spongiosis. Pick bodies were lacking in all cases of the 3 families. The mean age of onset varied significantly between families. We report here evidence for linkage to chromosome 17q21-q22 with a maximum lod score of 4.70 at theta = 0.05 with the marker D17S932. Recombination analysis positions the gene for HFTD in a region of approximately 5 cM between markers D17S946 and D17S791. Three other neurodegenerative disorders with a strong clinical and pathological resemblance have recently been mapped to the same chromosomal region, suggesting that a group of clinically related neurodegenerative disorders may originate from mutations in the same gene.

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group (Article)

1997-01-01T00:00:00Z

The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for diagnosis of this disorder on a large scale in all affected individuals. A screening for the fragile X syndrome has been conducted in a representative sample of 3,352 individuals in schools and institutes for the mentally retarded in the southwestern Netherlands, by use of a brief physical examination and the DNA test. The attitudes and reactions of (non)consenting parents/guardians were studied by (pre- and posttest) questionnaires. A total of 2,189 individuals (65%) were eligible for testing, since they had no valid diagnosis, cerebral palsy, or a previous test for the FMR1 gene mutation. Seventy percent (1,531/2,189) of the parents/guardians consented to testing. Besides 32 previously diagnosed fragile X patients, 11 new patients (9 males and 2 females) were diagnosed. Scoring of physical features was effective in preselection, especially for males (sensitivity .91 and specificity .92). Major motives to participate in the screening were the wish to obtain a diagnosis (82%), the hereditary implications (80%), and the support of research into mental retardation (81%). Thirty-four percent of the parents/guardians will seek additional diagnostic workup after exclusion of the fragile X syndrome. The prevalence of the fragile X syndrome was estimated at 1/ 6,045 for males (95% confidence interval 1/9,981-1/ 3,851). On the basis of the actual number of diagnosed cases in the Netherlands, it is estimated that >50% of the fragile X cases are undiagnosed at present.

Familiaire vormen van frontotemporale dementie. (Article)

1995-01-01T00:00:00Z

What is Knowledge But Grieving? On psychological presymptomatic DNA-testing for Huntington's Disease (Doctoral Thesis)

1993-03-31T00:00:00Z