Prevalence of Major Depression after HD Test (Codori)

Journal of Genetic Counseling, 2006

The present study reports a two-year follow-up of psychological effects of predictive testing for Huntington's disease. Questionnaires assessing depression, general health, well-being, self injurious behavior, life satisfaction, and lifestyle were completed by 35 carriers and 58 non-carriers before the predictive test, and 2, 6, 12, and 24 months afterwards. Both carriers and non-carriers showed high suicidal ideation before the predictive testing. Depression scores and frequency of suicidal thoughts increased for carriers, compared to non-carriers, over time. There were no differences regarding life satisfaction or life style between carriers and non-carriers. Predictive testing was beneficial in reducing overall ill-health symptoms and increasing well-being for those initially expressing concern about Huntington's disease. The importance of assessing suicidal ideation and of continuing to provide adequate support is emphasized.

Journal of Medical Genetics, 1996

A total of 135 participants in the Canadian predictive testing programme for HD were followed for at least one year in one of four study groups: increased risk (n=37), decreased risk (n=58), uninformative (n=17), or not tested (n=23). Clinical criteria for an adverse event were a suicide attempt or formulation of a suicide plan, psychiatric hospitalisation, depression lasting longer than two months, a marked increase in substance abuse, and the breakdown of important relationships. Quantitative criteria, as measured by changes on the General Severity Index of the Symptom Checklist 90-R and the Beck Depression Inventory, were also used to identify people who had adverse events. Twenty ofthe 135 participants (14.8%) had an adverse event. There were no significant differences between those with or without an adverse event with respect to age, sex, marital status, education, psychiatric history, general psychiatric distress, or social supports at baseline. However, evidence for depression was associated with an increased frequency of adverse events (p<0.04). The adverse events were similar and seen with equivalent frequency in those receiving an increased risk or decreased risk and persons at risk who did not receive a modification of risk. However, a significant difference was found in the timing of adverse events for the increased and decreased risk groups (p<0.0002). In the increased risk group all of the adverse events occurred within 10 days after results whereas, in the decreased risk group, all of the adverse events occurred six months or later after reviewing test results. These results suggest that people entering into predictive testing with some evidence of clinical depression warrant special vigilance and also suggest that counselling and support should be available for all participants in predictive testing irrespective of the direction of test results. (J Med Genet 1996;33:856-862)

2017

Presymptomatic Testing (PST) for Huntington’s disease (HD) is available since 1986 and its impact on carriers and non-carriers is not yet fully clear. It is important to understand its psychological impact so that the PST protocols are best suited to the subjects at-risk. Preventing a negative psychological impact is the ultimate purpose of the genetic counselling process. This study addresses the long-term negative psychological impact assessment of PST for HD. The sample consisted of 29 subjects that were 50% at-risk for HD, and had performed the PST for at least three years ago. Participants answered the sociodemographic questionnaire and the Brief Symptom Inventory, the Zung Self-Rating Anxiety Scale, and the Beck Depression Inventory. Although most of the sample does not present clinically significant psychopathology values, 6 subjects present a Positive Symptoms Distress Index value which is equal to or greater than 1.7; 7 subjects present a value which is equal to or greater than 40 of anxiety; and 7 subjects present mild depression. Symptomatic carriers, who underwent the PST less time ago, present worse psychopathological symptoms, depression and anxiety. Subjects with this profile should have a more intense and personalized psychological and social support, aiming to prevent the risk of suicide and to improve the quality of their lives.

Huntington disease (HD) has traditionally been considered a movement disorder, but cognitive and psychiatric symptoms also prominently factor into its clinical presentation. Depression is one of the most common psychiatric disturbances in HD, with its prevalence highest in manifest disease during stage 2, but it is also present during the illness prodrome (the period before manifestation of motor symptoms). Identification and treatment of depression in individuals with the HD mutation is an essential part of clinical management in this population, especially owing to the high risk of suicide. This article summarizes what is currently known about the presentation and treatment of depression in the early stages of HD and provides advice to clinicians treating this population. Huntington disease: beyond motor symptoms Huntington disease (HD) is a neurodegenerative disorder caused by an increased number of DNA trinucleotide repeats in the Huntingtin (HTT) gene on chromosome 4 [1,2]. When the number of cytosine–adenine–guanine (CAG) repeats on at least one copy of this locus is increased to more than 35, an individual will develop HD. It is a dominant mutation; therefore, the chances of offspring inheriting the mutation are 50%. Affected individuals develop gradual destruction of neurons in the striatum and cortex, leading to the motor symptoms of chorea, rigidity and bradykinesia, with degeneration over 20 years leading to death. The length of the CAG repeat is inversely correlated with the age of onset of motor symptoms, which on average occurs between the ages of 35–45 years. No treatments are available to prevent or reverse neurodegeneration in HD. The diagnosis of HD is traditionally based on the presence of motor symptoms; however, the cognitive and behavioral symptoms constitute a significant aspect of HD morbidity, affecting the ability to work, manage finances and perform other daily activities [3]. Early mortality may also occur due to increased risk of suicide. Cognitive deficits affect memory, visuospatial abilities and executive function, often resulting in dementia.

Individuals with manifest Huntington's disease (HD) were interviewed with regard to the presence , frequency, and severity of depression symptoms to better characterize depressed mood across the disease course in HD. Rates of depression were more than twice that found in the general population. One-half reported that they had sought treatment for depression, and more than 10% reported having at least one suicide attempt. The proportion of HD patients endorsing significant depression diminished with disease progression. Despite the public health impact of depression , available treatments are underutilized in HD, and research is needed to document the efficacy and effectiveness of standard depression treatments in this population.

Neurologia i neurochirurgia polska

Huntington disease (HD) is an au-tosomal dominant hereditary neurodegenerative disease with multiplication of CAG triplet in the short arm of chromoso-me 4, manifested by motor symptoms, cognitive dysfunction progressing to dementia, and various types of neuropsychiat-ric disorders. The diagnosis of HD is confirmed by a gene-tic test, which may also be carried out presymptomatically. We studied differences in psychiatric examination and psychometric measures among the 52 people at risk of HD, who were recommended to postpone or to continue in the predictive protocol. In addition to the psychiatric examination, we administered the Eysenck Personality Questionnaire (EPQ-A), the Symptom Checklist 90 (SCL-90), and quality of life questionnaire (MANSA). People at risk of HD with the recommended test postponement showed lower rate of neuroticism and EPQ-A lie score, higher values on the phobia and the so-called &#39;positive symptom distress index&#39; in SCL-90 and lower quality of life ...

Health Psychology, 2004

Journal of Psychiatric Research, 2013

Depression causes significant morbidity and mortality, and this also occurs in Huntington Disease (HD), an inherited neurodegenerative illness with motor, cognitive, and psychiatric symptoms. The presentation of depression in this population remains poorly understood, particularly in the prodromal period before development of significant motor symptoms. In this study, we assessed depressive symptoms in a sample of 803 individuals with the HD mutation in the prodromal stage and 223 mutation-negative participants at the time of entry in the Neurobiological Predictors of HD (PREDICT-HD) study. Clinical and biological HD variables potentially related to severity of depression were analyzed. A factor analysis was conducted to characterize the symptom domains of depression in a subset (n ¼ 168) with clinically significant depressive symptoms. Depressive symptoms were found to be more prevalent in HD mutation carriers but did not increase with proximity to HD diagnosis and were not associated with length of the HD mutation. Increased depressive symptoms were significantly associated with female gender, selfreport of past history of depression, and a slight decrease in functioning, but not with time since genetic testing. The factor analysis identified symptom domains similar to prior studies in other populations. These results show that individuals with the HD mutation are at increased risk to develop depressive symptoms at any time during the HD prodrome. The clinical presentation appears to be similar to other populations. Severity and progression are not related to the HD mutation.

American Journal of Medical Genetics, 1994

The impact of predictive genetic testing for Huntington's disease (HD) was assessed in 68 persons at high (n = 17) or low risk (n = 51) for the disease at one to six years following disclosure of test results. There was consensus in both groups that knowledge of HD genetic status was beneficial. A majority of persons felt relief from wondering and uncertainty. High-risk persons identified greater family closeness and financial security. For low-risk persons, the knowledge that their children were spared offered great consolation. Negative effects in high-risk persons were psychological burden (worry, guilt). Even for low-risk subjects, there was a period of adjustment and, in some, disappointment that low risk had not alleviated problems unrelated to HD. Although the majority of marriages were unaffected by testing, some persons in both groups reported that their marriages sustained positive or negative impact. Despite mixed consequences, most did not regret being tested. The benefits of testing appear to outweigh its drawbacks, at least among this self-selected group of research participants. We also must conclude, however, that predictive genetic testing will result in negative as well as positive consequences, regardless of test outcome. © 1994 Wiley-Liss, Inc.

Neurodegenerative Disease Management, 2011

SUMMARY Huntington disease (HD) has traditionally been considered a movement disorder, but cognitive and psychiatric symptoms also prominently factor into its clinical presentation. Depression is one of the most common psychiatric disturbances in HD, with its prevalence highest in manifest disease during stage 2, but it is also present during the illness prodrome (the period before manifestation of motor symptoms). Identification and treatment of depression in individuals with the HD mutation is an essential part of clinical management in this population, especially owing to the high risk of suicide. This article summarizes what is currently known about the presentation and treatment of depression in the early stages of HD and provides advice to clinicians treating this population.