Emotional responses to APO E genotype disclosure for Alzheimer disease.
ABSTRACT The purpose of our study is to assess the emotional responses to disclosing APO E genotype to asymptomatic older adults at increased risk for Alzheimer disease (AD). This is a longitudinal cohort study of volunteer subjects who were aged 50 years or over, asymptomatic for (AD), had a family history of AD, passed a psychological assessment, and participated in pre- and post-test genetic counseling and three follow-up visits over 10 months. We analyzed responses by three emotional constructs: depressed, worried, and relieved. Three hundred and twenty-eight subjects were screened, 76 received their APO E genotype. When emotional responses occurred it was immediate, between baseline and the 1 month follow-up. Emotional reactions did not change significantly past 1 month. Our results suggest that for emotionally stable persons, disclosing results of their APO E genotype, high risk subjects did not report more depression or worry and low risk subjects felt relieved by knowing the results. Future studies should evaluate the risks of disclosure to family members involved in the diagnostic work-up of a relative and include subjects from a broader range of emotional stability and socioeconomic background.
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ABSTRACT: Alzheimer disease (AD) is a genetically heterogenous disorder; in rare cases autosomal dominantly inherited mutations typically cause early-onset familial AD (EOAD), whereas the risk for late-onset AD (LOAD) is generally modulated by genetic variants with relatively low penetrance but high prevalence, with variants in apolipoprotein E (APOE) being a firmly established risk factor. This article presents an overview of the current literature on the psychological and behavioral impact of genetic testing for AD. The few studies available for presymptomatic testing for EOAD showed that only a very small proportion of individuals had poor psychological outcomes as a result. Initial interest in testing for EOAD decreases significantly after identification of a specific mutation in a kindred, suggesting that interest and potential for knowledge may not translate into actual testing uptake. The majority of individuals from both the general population and those with a family history of AD had positive attitudes towards, and were interested in, susceptibility testing for APOE. Motivations for genetic testing included to provide information for future planning and to learn about one's own and one's children's risks of developing AD. Although susceptibility testing for APOE genotype is not currently recommended due to the lack of clinical utility, this review demonstrates that there is interest in testing and no obvious adverse psychological effects to those who have been tested.Genetic Testing and Molecular Biomarkers 06/2012; 16(8):935-42. DOI:10.1089/gtmb.2011.0300 · 1.15 Impact Factor
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ABSTRACT: Many years before receiving a clinical diagnosis of Alzheimer's disease (AD), patients experience evidence of cognitive decline. Recent studies using a variety of brain imaging technologies have detected subtle changes in brain structure and function in normal adults with a genetic risk for AD; these brain changes have similar pathological features as AD, and some appear to be predictive of future cognitive decline. This review examines the most recent data on brain changes in genetic risk for AD and discusses the benefits and potential risks of detecting individuals at risk.Annual Review of Clinical Psychology 02/2009; 5:343-62. DOI:10.1146/annurev.clinpsy.032408.153625 · 12.92 Impact Factor
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ABSTRACT: It was the aim of this study to determine the depression scores of Machado-Joseph disease (MJD) patients, their spouses, and individuals at 50% risk for MJD, and second, to verify the existence of a correlation between depressive symptoms and the degree of motor incapacitation. Two hundred and forty-six individuals aged > or =18 years were studied: 79 MJD patients (group 1), 43 spouses of MJD patients (group 2), 80 individuals at risk for MJD (group 3), and a control group (group 4) composed of 44 patients with multiple sclerosis (MS). The following two tools were applied: the Beck Depression Inventory and the Barthel index of physical incapacitation, both in an adapted Brazilian Portuguese version. Moderate to severe depressive scores were found in 33.5% of patients in the MJD families, in 16.3% of the spouses, and in 6.3% of the individuals at risk. This linear reduction between MJD family members was statistically significant (p < 0.0001, ANOVA). Depressive scores were also associated with age and the female sex. A direct correlation between Beck Depression Inventory scores and motor incapacitation was found in MJD patients (r = 0.507, Pearson correlation, p < 0.0001). Although the depressive symptoms in the control group with MS were higher than those found in MJD patients (59% of MS patients showed moderate to severe scores), depression did not correlate with physical incapacitation, age, or education attainment in the MS group. Depressive symptoms are rather common in MJD patients and in their spouses (caregivers). In this condition, depression seemed to be more reactive than primarily related to the disease process itself.Community Genetics 02/2007; 10(1):19-26. DOI:10.1159/000096276 · 1.54 Impact Factor