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Revista Brasileira de PsiquiatriaVolume 38, Issue 2, April-June 2016, Pages 113-120

Mid-and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy(Article)(Open Access)

  • aCentro de Genética Preditiva e Preventiva (CGPP), Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal
  • bInstituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal
  • cUniversidade Lusófona do Porto (ULP), Porto, Portugal
  • dUnidade de Investigação em Energia, Ambiente e Saúde (FP-ENAS), Laboratório de Investigação em Energia, Ambiente e Saúde Ambiental e Pública (3ERL), Universidade Fernando Pessoa (UFP), Porto, Portugal

Abstract

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.

Author keywords

AnxietyMiddle-and long-term impactNeurodegenerative diseasesPre-symptomatic testingPsychology

Indexed keywords

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
MeSH:AdultAgedAmyloid Neuropathies, FamilialAnxietyAsymptomatic DiseasesCross-Sectional StudiesFemaleHumansHuntington DiseaseMachado-Joseph DiseaseMaleMiddle AgedPortugalPredictive Value of TestsSurveys and QuestionnairesTime Factors

Funding details

Funding sponsor Funding number Acronym
Fundação para a Ciência e a Tecnologia
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Programa Operacional Temático Factores de Competitividade
  • 1

    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.

  • ISSN: 15164446
  • CODEN: RBPSB
  • Source Type: Journal
  • Original language: English
  • DOI: 10.1590/1516-4446-2014-1617
  • PubMed ID: 26870910
  • Document Type: Article
  • Publisher: Associacao Brasileira de Psiquiatria

  Lêdo, S.; Rua do Campo Alegre, 823, Porto, Portugal;
© Copyright 2016 Elsevier B.V., All rights reserved.

Cited by 6 documents

Paneque, M. , Félix, J. , Mendes, Á.
Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal | Vinte anos de um protocolo de teste pré-sintomático para doenças neurológicas de início tardio em Portugal
(2019) Acta Medica Portuguesa
Teixeira Leite, Â.M. , Dinis, M.A.P. , Lêdo da Silva Pinto, S.M.
Long-term Negative Psychological Impact of Presymptomatic Testing on Familial Amyloid Polyneuropathy
(2019) Clinica y Salud
Lêdo, S. , Ramires, A. , Leite, Â.
Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases
(2018) European Journal of Medical Genetics
View details of all 6 citations
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