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 were significant differences between the middle- and long-term. The study indicates that depression occurs only when subjects had previously manifested the first symptoms of their neurologic disease.
Este estudo transversal investigou a depressão como indicador do impacto psicológico do teste pré-sintomático (TPS) a médio (quatro anos) e longo prazo (de 7 a 10 anos) de doenças neurológicas de início tardio: a doença de Huntington (DH), doença de Machado-Joseph (DMJ) e polineuropatia amiloidótica familiar PAF (TTR V30M). 203 sujeitos participaram no estudo: 170 (83,7%) submetidos ao TPS para PAF, 29 (14,3%) para o DH e 4 (2%) para DMJ. Destes 203, 73 eram portadores assintomáticos, 29 (14,5%) já eram sintomáticos, 9 (4,5%) pacientes com PAF, já tinham realizado o transplante hepático e 89 (44,5%) eram não-portadores. A amostra era constituída maioritariamente por mulheres (58,1%) e por sujeitos casados (66,5%). Utilizou-se o Inventário da Depressão de Beck (BDI). Os scores mais elevados foram observados nos portadores sintomáticos e nos sujeitos que tinham realizado consultas de psicologia com scores indicadores de depressão leve. Os portadores assintomáticos e os não-portadores apresentaram médias semelhantes. Para os portadores sintomáticos, encontrámos diferenças significativas entre o médio e o longo prazo. Este estudo conclui que a depressão pode ocorrer nos indivíduos que já manifestam os primeiros sintomas da respectiva doença neurológica.
Este estudio transversal investigó la depresión a la media (4 años) y largo plazo (7 y 10 años) del impacto psicológico de la prueba pre-sintomática (PPS) para 3 enfermedades autosómicos, dominantes, de aparición tardía: la enfermedad de Huntington (EH), la enfermedad de Machado-Joseph (EMJ) y la polineuropatia amiloide familiare (PAF) o polineuropatia amiloide da transtiretina FAP (TTR V30M). Participaron 203 sujetos: 170 (83,7%) para PPS para PAF, 29 (14,3%) para EH y 4 (2%) para EMJ. De estos 203, 73 estaban todavía portador asintomático, 29 (14,5%) eran sintomáticos, 9 (4,5%) fueron PAF pacientes con trasplante hepático y 89 (44,5%) eran no-portadores. Eran en su mayoría mujeres (58,1%) y casados (66,5%). Se utilizó el Inventario de Depresión de Beck (IDB). Los puntajes fueron mayores para las portadoras sintomáticas y para aquellos que han hecho consultas de apoyo psicológico con puntuaciones medias de depresión leve. Los portadores asintomáticos y no portadores tuvieron puntajes similares. Para portadores sintomáticos, hubo diferencias significativas entre el medio y largo plazo. Este estudio concluye que la depresión puede ocurrir en personas que ya muestran los primeros síntomas de la enfermedad neurológica.
ABSTRACT
Objective: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders – Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M – in a Portuguese sample. Methods: This cross-sectional study included 203 participants: 170 (83.7%) underwent pre-symptomatic testing for FAP, 29 (14.3%) for HD, and 4 (2%) for MJD. Of the 203 participants, 73 (36.0%) were asymptomatic carriers, 29 (14.5%) were symptomatic carriers, 9 (4.5%) were diagnosed with FAP and had a liver transplant, and 89 (44.5%) were non-carriers. Most were women (58.1%) and married (66.5%). The anxiety variable was assessed using the Zung Self-Rating Anxiety Scale (SAS). Results: The anxiety scores were higher for symptomatic carriers and for those who underwent psychological support consultations over the years. For symptomatic carriers, the mean scores were superior to 40 points, which reflects clinical anxiety. Conclusion: Although it was not possible to differentiate between the mid- and long-term psychological impacts, this study supports the conclusion that the proximity to the age of symptoms onset might be a trigger for anxiety.