| Author | Marinho, Alice Salgueiro do Nascimento | |
| Author | Lima, Maria Angelica de Faria Domingues de | |
| Author | Vargas, Fernando Regla | |
| Access date | 2016-02-22T17:07:20Z | |
| Available date | 2016-02-22T17:07:20Z | |
| Document date | 2015 | |
| Citation | MARINHO, Alice Salgueiro do Nascimento; LIMA, Maria Angélica de Faria Domingues de: VARGAS, Fernando Regla. Analysis of pre-test interviews in a cohort of Brazilian patients with movement disorders. J Community Genet, v.6, p.259–264, 2015. | pt_BR |
| ISSN | 1868-310X | |
| URI | https://www.arca.fiocruz.br/handle/icict/12783 | |
| Language | eng | pt_BR |
| Publisher | Springer Verlag | pt_BR |
| Rights | restricted access | pt_BR |
| Subject in Portuguese | Doença de Huntington | pt_BR |
| Subject in Portuguese | Aconselhamento genético | pt_BR |
| Subject in Portuguese | Ataxia espinocerebelar | pt_BR |
| Subject in Portuguese | Doenças neurodegenerativas | pt_BR |
| Subject in Portuguese | Brasil | pt_BR |
| Title | Analysis of pre-test interviews in a cohort of Brazilian patients with movement disorders | pt_BR |
| Type | Article | pt_BR |
| DOI | 10.1007/s12687-015-0235-3 | |
| Abstract | Spinocerebellar ataxias and Huntington disease are
heritable, adult onset, neurodegenerative disorders of movement.
Both are autosomal dominant and caused by expansions
in trinucleotide sequences in several genes. Because these
expansions are associated with an almost complete penetrance,
genetic tests are available at the diagnostic and predictive
level. In this study, we describe the expectations and issues
raised during pre-test interviews for genetic counselling
for these diseases. Data from pre-test interviews with 97 patients
and at-risk relatives for spinocerebellar ataxia (SCA) or
Huntington disease was comprised of close-ended questions
(demographics, personal and current disease history) and
open-ended questions, where individuals were asked to describe
their hopes and expectations on the genetic counselling
evaluation and also their degree of knowledge about genetics
and medical genetics. Amongst the main expectations identified
in patients and at-risk relatives, issues related to the
aetiological diagnosis and/or disclosure of the at-risk status
were those most frequently mentioned (57 %). Improvement
in quality of life was another identified issue (17 %).
Interestingly, the issue of inheritance/transmission was identified
as the main expectation by a minority of individuals
(3 %). Pre-test interviews are valuable tools to identify issues
raised by consultands and promote a better communication
between the patient, family and the genetic counselling team. | pt_BR |
| Affilliation | Universidade Federal do Estado do Rio de Janeiro. Hospital Universitário Gaffrée e Guinle. Serviço de Medicina Genética. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Universidade do Grande Rio. Rio de Janeiro, RJ, Brasil / Fundação oswaldo Cruz. Instituto Fernandes Figueira. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Universidade Federal do Estado do Rio de Janeiro. Hospital Universitário Gaffrée e Guinle. Serviço de Medicina Genética. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz, Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Subject | Genetic counselling | pt_BR |
| Subject | Pre-test interview | pt_BR |
| Subject | Predictive test | pt_BR |
| Subject | Spinocerebellar ataxia | pt_BR |
| Subject | Huntington disease | pt_BR |
| Subject | Neurodegenerative disorders | pt_BR |
| Subject | Brazil | pt_BR |
| e-ISSN | 1868-6001 | |
| xmlui.metadata.dc.subject.ods | 03 Saúde e Bem-Estar | |
