Psychological distress in the 5-year period after predictive testing for Huntington's disease

Abstract

The paper reports on a 5-year longitudinal study on psychological distress after predictive testing for Huntington's disease (HD) and on correlates of post-test distress. Psychometric tests and questionnaires were used. The tested persons were invited to participate in the follow-up study; the uptake rate was 75% (24 carriers, 33 non-carriers). Three time points were included: baseline, 1 year and 5 years posttest. Five years after the test, mean distress scores of both carriers and non-carriers were within the normal range. Carriers did not differ from non-carriers with regard to mean general distress. Compared to non-carriers, however, carriers had significantly less positive feelings (P50.001) and were more consciously avoiding HD-related situations and thoughts (P50.01). These findings reflect the carriers' conscious and unconscious attempt to escape from pessimism and to minimise negative consequences of the test result. Psychological distress 5 years post-test was significantly associated with ego-strength (P50.05 to P50.001). Except for intrusion and avoidance, distress was also associated with test motivation (P50.05 to P50.01). Compared with baseline level, mean depression, general and specific anxiety had significantly decreased 1 year and 5 years post-test (P50.05 to 0.01). This evolution was independent of the test result. However, based on test motivation, a subgroup of tested persons having long lasting psychological distress could be identified, also irrespective of test result. Persons who asked the test to get rid of the uncertainty, without being able to specify implications for substantial life areas, had more psychological distress before and after the test than those who wanted the test for specific reasons (P50.001 to P50.0001). Moreover, the pattern of post-test anxiety differed over time, depending on the test motivation (P50.05). The findings suggest that pre-and post-test counselling should pay special attention to persons with lower ego-strength and with an unspecified test motivation, because they are at higher risk for long-term psychological distress, independently of the test result.

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy

“…2,13 The few midand long-term studies available suggest that, in general, there is an absence of negative impact after some years, 11,16,19 specifically in relation to anxiety levels. The study by Decruyenaere et al 15 indicates a decrease in the score for anxiety in the long run. It is thus important to study the mid (4 years) and long-term (7 and 10 years) psychological impact of PST in HD with inclusion of the other two neurodegenerative diseases, MJD and FAP.…”

“…[7][8][9][10]13,14 Although most report on short-term results of PST, some literature already presents long-term psychosocial impacts of HD predictive testing. 3,11,[14][15][16][17][18][19] Two very specific Portuguese diseases, MJD and FAP, also follow a severe neurodegenerative pathway and remain until now without an effective treatment or cure. For MJD, it is important to highlight the frequency of cerebellar ataxia, progressive external ophthalmoplegia, and pyramidal signs.…”

Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer

“…14,15 There is substantial evidence that a key concern for adults undergoing predictive testing is the potential impact on their loved ones. 6,7,26 Previous studies of young females with a BrCa mutation have identified concerns about their future health on their children's well-being. 15,16 In this study, it was striking that most participants, including the youngest FCM testees, had anticipated how their family members might react to their test result and sought ways to avoid causing them distress.…”

“…4 The desire to ensure that testing programmes do not cause more harm than good, has led to a considerable body of research on the psychosocial impact of predictive testing in adults, particularly for hereditary breast and ovarian cancer (HBOC) and Huntington's disease (HD). While most studies and reviews report an overall adjustment in the first couple of years post predictive testing, [5][6][7][8] distress levels may start to rise again later, presumably as the time approaches to possible disease onset. 9 Further, individuals may experience difficulties in specific areas of their lives such as family communication 10,11 and discrimination at home and in the work place or with insurance.…”

Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease

“…Instead, the majority of studies suggest that people are satisfied with their decision to be tested and cope well when adequately prepared to receive an HD test result. [11][12][13][14] The decision to proceed with PT may be dynamic and may unfold over time or it may be more automatic or triggered by a particular event. 15 It is shaped by clinical or sociopolitical contexts (e.g., test accessibility and availability, cost, psychiatric diagnoses), as well as other personal and familial factors.…”