Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact

Background: Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for late-onset diseases, such as Huntington’s disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact of PST for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (DMJ) and familial amyloid polyneuropathy (FAP). Method: The study included 203 subjects: 170 (84%) agreed to make the PST for FAP, 29 (14%) for HD and 4 (2%) for MJD. They were mostly women (58%) and married (67%). It was considered the cutoffs points: 4 years (middle-term) and 7 and 10 years (long-term) indicating the time after receiving the TPS results. Results: women and widows (oldest) presented the highest mean values for almost all BSI dimensions and the highest values correspond to the obsessivecompulsive dimension. MJD participants presented the highest mean values. No differences were found concerning the PST test results while participants are still asymptomatic. Psychopathology was only present in symptomatic carriers. Conclusions: The onset of the disease seems to assume the trigger for psychological disturbance, regardless the time that has elapsed since the PST result communication or the individual carrier/non-carrier condition.