Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo

Detalhes bibliográficos
Autor(a) principal: Lêdo, Susana
Data de Publicação: 2017
Outros Autores: Leite, Ângela, Souto, Teresa, Dinis, Maria Alzira Pimenta, Sequeiros, Jorge
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10284/7857
Resumo: http://sherpa.ac.uk/romeo/issn/0214-9915/
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spelling Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazoAdultAgedAmyloid Neuropathies, FamilialAsymptomatic DiseasesCross-Sectional StudiesFemaleHumansHuntington DiseaseMachado-Joseph DiseaseMaleMiddle AgedTime FactorsYoung Adulthttp://sherpa.ac.uk/romeo/issn/0214-9915/Background. Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for autosomal dominant 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 in individuals who agreed to perform the pre-symptomatic testing for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (MJD) 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. Subjects were mostly women (58%) and married (67%). Three cutoffs points were considered: 4 years (middle-term) and 7 and 10 years (long-term) indicating the time after receiving the PST results. Results: results showed that women and widows (oldest) participants presented the highest mean values for almost all BSI dimensions and the highest mean values correspond to the obsessive-compulsive BSI dimensions. Concerning the nature of the disease, 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 the presence of psychological disturbance in the subjects, regardless the time that has elapsed since the PST result communication or the individual carrier/non-carrier condition.Antecedentes: el presente estudio transversal investigó el impacto psicopatológico a medio (4 años) y a largo plazo (7 y 10 años) de la prueba pre-sintomática (PPS) para tres enfermedades autosómicas dominantes de aparición tardía: enfermedad de Huntington EH, la enfermedad de Machado-Joseph (EMJ) y la polineuropatía amiloide familiar (PAF). Método: participaron 203 sujetos: 170 (84 %) realizaron el PPS para PAF, 29 (14 %) para EH y 4 (2 %) para EMJ. La muestra, en su mayoría, estuvo compuesta por mujeres (58 %) y por personas casadas (67 %). Fueron considerados como puntos de corte los 4, 7 y 10 años después de haber recibido el resultado de la PPS. Resultados: las mujeres y los viudos presentan las medias más altas. Los participantes con EMJ presentaron las medias más elevadas. No se encontraron diferencias significativas en lo concerniente a los resultados de PPS. La perturbación psicológica fue escasamente observada en los sujetos portadores que ya evidenciaban síntomas. Conclusiones: la aparición de los primeros síntomas parece constituir el detonante para la existencia de perturbaciones psicológicas, independientemente del intervalo de tiempo sucedido desde la comunicación de los resultados de la PPS o de la condición genética (portador/no portador).Colegio Oficial de PsicologosRepositório Institucional da Universidade Fernando PessoaLêdo, SusanaLeite, ÂngelaSouto, TeresaDinis, Maria Alzira PimentaSequeiros, Jorge2019-09-13T12:59:41Z2017-11-01T00:00:00Z2017-11-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10284/7857engAPA: Lêdo, S., Leite, Â., Souto, T., Dinis, M. A. P., & Sequeiros, J. (2017). Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact. Psicothema, 29(4), 446-452. doi:10.7334/psicothema2016.2981886-144X10.7334/psicothema2016.298info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-06T02:07:15Zoai:bdigital.ufp.pt:10284/7857Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:44:47.370878Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
title Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
spellingShingle Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
Lêdo, Susana
Adult
Aged
Amyloid Neuropathies, Familial
Asymptomatic Diseases
Cross-Sectional Studies
Female
Humans
Huntington Disease
Machado-Joseph Disease
Male
Middle Aged
Time Factors
Young Adult
title_short Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
title_full Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
title_fullStr Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
title_full_unstemmed Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
title_sort Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazo
author Lêdo, Susana
author_facet Lêdo, Susana
Leite, Ângela
Souto, Teresa
Dinis, Maria Alzira Pimenta
Sequeiros, Jorge
author_role author
author2 Leite, Ângela
Souto, Teresa
Dinis, Maria Alzira Pimenta
Sequeiros, Jorge
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Repositório Institucional da Universidade Fernando Pessoa
dc.contributor.author.fl_str_mv Lêdo, Susana
Leite, Ângela
Souto, Teresa
Dinis, Maria Alzira Pimenta
Sequeiros, Jorge
dc.subject.por.fl_str_mv Adult
Aged
Amyloid Neuropathies, Familial
Asymptomatic Diseases
Cross-Sectional Studies
Female
Humans
Huntington Disease
Machado-Joseph Disease
Male
Middle Aged
Time Factors
Young Adult
topic Adult
Aged
Amyloid Neuropathies, Familial
Asymptomatic Diseases
Cross-Sectional Studies
Female
Humans
Huntington Disease
Machado-Joseph Disease
Male
Middle Aged
Time Factors
Young Adult
description http://sherpa.ac.uk/romeo/issn/0214-9915/
publishDate 2017
dc.date.none.fl_str_mv 2017-11-01T00:00:00Z
2017-11-01T00:00:00Z
2019-09-13T12:59:41Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10284/7857
url http://hdl.handle.net/10284/7857
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv APA: Lêdo, S., Leite, Â., Souto, T., Dinis, M. A. P., & Sequeiros, J. (2017). Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact. Psicothema, 29(4), 446-452. doi:10.7334/psicothema2016.298
1886-144X
10.7334/psicothema2016.298
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Colegio Oficial de Psicologos
publisher.none.fl_str_mv Colegio Oficial de Psicologos
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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