Abstract
This cross-sectional study investigated depression as the middle- (4 years) and long-term (7 and 10 years) psychological impact of pre-symptomatic testing (PST) for 3 autosomal dominant late-onset diseases: Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloidotic polyneuropathy (FAP) TTR V30M. It included 203 subjects: 170 (83.7%) underwent the PST for FAP, 29 (14.3%) for HD and 4 (2%) for MJD. Of these 203, 73 were still asymptomatic carriers, 29 (14.5%) were symptomatic, 9 (4.5%) were FAP liver transplanted patients and 89 (44.5%) were non-carriers. Subjects were mainly women (58.1%) and married (66.5%). The Beck Depression Inventory (BDI) was used to evaluate depression. Scores were higher for symptomatic carriers and for those who have made one or more psychological support consultations over the years. For the formers, the mean scores pointed to mild depression. Asymptomatic carriers and non-carriers had similar scores but it was impossible to differentiate the psychological impact between the medium and long-term. For symptomatic carriers, there
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