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

2017-11Journal article Open access
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dc.contributor.authorLêdo, Susana
dc.contributor.authorLeite, Ângela
dc.contributor.authorSouto, Teresa
dc.contributor.authorDinis, Maria Alzira Pimenta
dc.contributor.authorSequeiros, Jorge
dc.date.accessioned2019-09-13T12:59:41Z
dc.date.available2019-09-13T12:59:41Z
dc.date.issued2017-11
dc.descriptionhttp://sherpa.ac.uk/romeo/issn/0214-9915/pt_PT
dc.description.abstractBackground. 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.pt_PT
dc.description.abstractAntecedentes: 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).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAPA: 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/psicothema2016.298pt_PT
dc.identifier.doi10.7334/psicothema2016.298pt_PT
dc.identifier.issn1886-144X
dc.identifier.urihttp://hdl.handle.net/10284/7857
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherColegio Oficial de Psicologospt_PT
dc.relation.publisherversionhttp://www.psicothema.com/psicothema.asp?ID=4419pt_PT
dc.subjectAdultpt_PT
dc.subjectAgedpt_PT
dc.subjectAmyloid Neuropathies, Familialpt_PT
dc.subjectAsymptomatic Diseasespt_PT
dc.subjectCross-Sectional Studiespt_PT
dc.subjectFemalept_PT
dc.subjectHumanspt_PT
dc.subjectHuntington Diseasept_PT
dc.subjectMachado-Joseph Diseasept_PT
dc.subjectMalept_PT
dc.subjectMiddle Agedpt_PT
dc.subjectTime Factorspt_PT
dc.subjectYoung Adultpt_PT
dc.titlePre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact: Pruebas pre-sintomáticas de enfermedades neurodegenerativas: el impacto psicopatológico a largo plazopt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage452pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage446pt_PT
oaire.citation.titlePsicothemapt_PT
oaire.citation.volume29pt_PT
person.familyNameLêdo
person.familyNameDinis
person.familyNameSequeiros
person.givenNameSusana
person.givenNameMaria Alzira Pimenta
person.givenNameJorge
person.identifier493603
person.identifier666710
person.identifier.ciencia-id4710-147D-FDAF
person.identifier.ciencia-id0E17-D288-38BC
person.identifier.orcid0000-0003-3083-3129
person.identifier.orcid0000-0002-2198-6740
person.identifier.orcid0000-0002-9846-1037
person.identifier.ridF-3309-2011
person.identifier.scopus-author-id55539804000
person.identifier.scopus-author-id55851941438
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationf114f5ce-d79b-44be-96b4-2ab1bf364d28
relation.isAuthorOfPublication1e85592a-e8e2-4aea-bd8e-1007c94388c0
relation.isAuthorOfPublication20b11e35-c7b6-4c50-933c-320b4cab674c
relation.isAuthorOfPublication.latestForDiscovery1e85592a-e8e2-4aea-bd8e-1007c94388c0

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