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 obsessive-compulsive 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. Keywords: Pre-symptomatic testing, psychological impact, late-onset genetic diseases. Pruebas pre-sintomaticas de enfermedades neurodegenerativas: el impacio psicopatologico a largo plazo. Antecedentes: el presente estudio transversal investigo el impacto psicopatologico a medio (4 anos) y a largo plazo (7 y 10 anos) de la prueba pre-sintomatica (PPS) para tres enfermedades autosomicas dominantes de aparicion tardia: enfermedad de Huntington EH, la enfermedad de Machado-Joseph (EMJ) y la polineuropatia amiloide familiar (PAF). Metodo: participaron 203 sujetos: 170 (84%) realizaron el PPS para PAF, 29 (14%) para EH y 4 (2 %) para EMJ. La muestra, en su mayoria, estuvo compuesta por mujeres (58%) y por personas casadas (67%). Fueron considerados como puntos de corte los 4, 7 y 10 anos despues de haber recibido el resultado de la PPS. Resultados: las mujeres y los viudos presentan las medias mas altas. Los participantes con EMJ presentaron las medias mas elevadas. No se encontraron diferencias significativas en lo concerniente a los resultados de PPS. La perturbacion psicologica fue escasamente observada en los