

Objective: To study anxiety as a variable of the mid- and long-term psychological impact of presymptomatic 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. © 2016, Associacao Brasileira de Psiquiatria. All rights reserved.
| EMTREE medical terms: | adultagedanxietyArticlecross-sectional studydemographyfamilial amyloid polyneuropathyfemalehumanHuntington choreaLikert scaleMachado Joseph diseasemajor clinical studymalemiddle agedpsychologic assessmentpsychosocial carequestionnaireSelf-rating Anxiety ScaleAmyloid Neuropathies, Familialanxietyasymptomatic diseaseclassificationHuntington DiseaseMachado-Joseph DiseasePortugalpredictive valuepsychologytime factor |
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| MeSH: | AdultAgedAmyloid Neuropathies, FamilialAnxietyAsymptomatic DiseasesCross-Sectional StudiesFemaleHumansHuntington DiseaseMachado-Joseph DiseaseMaleMiddle AgedPortugalPredictive Value of TestsSurveys and QuestionnairesTime Factors |
| Funding sponsor | Funding number | Acronym |
|---|---|---|
| Fundação para a Ciência e a Tecnologia See opportunities | ||
| Programa Operacional Temático Factores de Competitividade |
This work was funded by Funda??o da Ci?ncia e da Tecnologia (FCT) under the Programa Operacional Potencial Humano (POPH)/Fundo Social Europeu (FSE) program.
Lêdo, S.; Rua do Campo Alegre, 823, Porto, Portugal;
© Copyright 2016 Elsevier B.V., All rights reserved.