Long-term Negative Psychological Impact of Presymptomatic Testing for Huntington ’s disease

Abstract

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.

Keywords: Presymptomatic Testing (PST), Preditive genetic testing, Huntington´s Disease (HD), Long-term Psychological Impact, Late-onset disease