Profile of Huntington’s Disease patients in Brazil

Detalhes bibliográficos
Autor(a) principal: Cariman, Mariana Oliveira Ramalho
Data de Publicação: 2022
Outros Autores: Sesti, Luís Fernando Castagnino
Tipo de documento: Artigo
Idioma: por
Título da fonte: Research, Society and Development
Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/29565
Resumo: Huntington's Disease is a progressive neurodegenerative disorder of genetic and autosomal dominant origin. In Brazil, there are no official data on the prevalence of Huntington's Disease, which can lead to difficulties in its diagnosis and in the multidisciplinary follow-up of the patient, so the objective of this study is to describe the profile of Huntington's Disease carriers in Brazil presenting difficulties for diagnosis and treatment of symptoms. The research was carried out by filling out an online questionnaire, using the Google Forms tool, by people with Huntington's Disease, family members or caregivers. We obtained 80 research participants, 55 female and 24 male. Most of them, 43.80%, are not aware of the amount of repetitions of the CAG nucleotides and 40% have 40 to 55 repetitions, which are related to the intensity of symptoms and age of onset. The most frequent initial symptoms were motor, present in 41.3% of the individuals, followed by 22.5% psychiatric, 27.5% had motor and psychiatric disorders, 3.8% cognitive and motor, 2.5% only of cognitive and 1.3% psychiatric and cognitive. Most users, both from the private health network and from the Unified Health System, are dissatisfied with the services offered to treat the symptoms of this disease. There is a need for greater dissemination of Huntington's Disease in the country in order to make molecular diagnosis accessible and multidisciplinary follow-up possible, thus improving the quality of life of patients.
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spelling Profile of Huntington’s Disease patients in Brazil Perfil de los portadores de la Enfermedad de Huntington en Brasil Perfil dos portadores da Doença de Huntington no Brasil Huntington's DiseaseEpidemiologyBrazil.Doença de HuntingtonEpidemiologiaBrasil.Enfermedad de HuntingtonEpidemiologíaBrasil.Huntington's Disease is a progressive neurodegenerative disorder of genetic and autosomal dominant origin. In Brazil, there are no official data on the prevalence of Huntington's Disease, which can lead to difficulties in its diagnosis and in the multidisciplinary follow-up of the patient, so the objective of this study is to describe the profile of Huntington's Disease carriers in Brazil presenting difficulties for diagnosis and treatment of symptoms. The research was carried out by filling out an online questionnaire, using the Google Forms tool, by people with Huntington's Disease, family members or caregivers. We obtained 80 research participants, 55 female and 24 male. Most of them, 43.80%, are not aware of the amount of repetitions of the CAG nucleotides and 40% have 40 to 55 repetitions, which are related to the intensity of symptoms and age of onset. The most frequent initial symptoms were motor, present in 41.3% of the individuals, followed by 22.5% psychiatric, 27.5% had motor and psychiatric disorders, 3.8% cognitive and motor, 2.5% only of cognitive and 1.3% psychiatric and cognitive. Most users, both from the private health network and from the Unified Health System, are dissatisfied with the services offered to treat the symptoms of this disease. There is a need for greater dissemination of Huntington's Disease in the country in order to make molecular diagnosis accessible and multidisciplinary follow-up possible, thus improving the quality of life of patients.La enfermedad de Huntington es un trastorno neurodegenerativo progresivo de origen genético y autosómico dominante. En Brasil, no existen datos oficiales sobre la prevalencia de la Enfermedad de Huntington, lo que puede crear dificultades para su diagnóstico y en el seguimiento multidisciplinario del paciente, por lo que el objetivo del presente trabajo es describir el perfil de los pacientes con Enfermedad de Huntington. en Brasil, presentando dificultades para el diagnóstico y tratamiento de los síntomas. La investigación se llevó a cabo mediante la cumplimentación de un cuestionario online, en la herramienta Formularios de Google, por parte de personas con Enfermedad de Huntington, familiares o cuidadores. Obtuvimos 80 participantes de investigación, 55 mujeres y 24 hombres. La mayoría, el 43,80%, desconoce el número de repeticiones de los nucleótidos CAG y el 40% tiene de 40 a 55 repeticiones, las cuales están relacionadas con la intensidad de los síntomas y la edad de aparición. Los síntomas iniciales más frecuentes fueron los motores, presentes en el 41,3% de los individuos, seguidos de los psiquiátricos el 22,5%, el 27,5% presentó alteraciones motoras y psiquiátricas, el 3,8% cognitivo y motor, el 2,5% solo cognitivo y el 1,3% psiquiátrico y cognitivo. La mayoría de los usuarios, tanto de la red privada de salud como del Sistema Único de Salud, se encuentran insatisfechos con los servicios que se ofrecen para el tratamiento de los síntomas de esta enfermedad. Es necesaria una mayor difusión de la Enfermedad de Huntington en el país para hacer accesible el diagnóstico molecular y posibilitar el seguimiento multidisciplinario, mejorando así la calidad de vida de los pacientes.A Doença de Huntington é uma afecção neurodegenerativa progressiva de origem genética e autossômica dominante. No Brasil não há dados oficiais sobre a prevalência da Doença de Huntington o que pode gerar dificuldades para seu diagnóstico e no acompanhamento multidisciplinar do paciente, portanto o objetivo do presente trabalho é descrever o perfil dos portadores da Doença de Huntington no Brasil apresentando dificuldades encontradas para diagnóstico e tratamento dos sintomas. A pesquisa foi realizada por meio do preenchimento de um questionário online, na ferramenta Google Formulários, por portadores da Doença de Huntington, familiares ou cuidadores. Obtivemos 80 participantes da pesquisa, 55 do sexo feminino e 24 do sexo masculino. A maior parte, 43,80%, não tem conhecimento da quantidade de repetições dos nucleotídeos CAG e 40% possui de 40 a 55 repetições, tendo estas, relação com a intensidade dos sintomas e idade do aparecimento dos mesmos. Os sintomas iniciais mais frequentes foram os motores, presentes em 41,3% dos indivíduos, seguidos de 22,5% psiquiátricos, 27,5% apresentaram alterações motoras e psiquiátricas, 3,8 % cognitivas e motoras, 2,5% somente de cognitivos e 1,3% psiquiátricas e cognitivas. A maioria dos usuários, tanto da rede particular de saúde quanto do Sistema Único de Saúde estão insatisfeitos com os serviços oferecidos para o tratamento dos sintomas desta enfermidade. É necessária maior divulgação sobre a Doença de Huntington no país afim de possibilitar a acessibilidade do diagnóstico molecular e o acompanhamento multiprofissional, melhorando assim a qualidade de vida dos pacientes.Research, Society and Development2022-05-15info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/2956510.33448/rsd-v11i7.29565Research, Society and Development; Vol. 11 No. 7; e6511729565Research, Society and Development; Vol. 11 Núm. 7; e6511729565Research, Society and Development; v. 11 n. 7; e65117295652525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIporhttps://rsdjournal.org/index.php/rsd/article/view/29565/25628Copyright (c) 2022 Mariana Oliveira Ramalho Cariman; Luís Fernando Castagnino Sestihttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessCariman, Mariana Oliveira Ramalho Sesti, Luís Fernando Castagnino 2022-06-06T15:12:05Zoai:ojs.pkp.sfu.ca:article/29565Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:46:36.014776Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false
dc.title.none.fl_str_mv Profile of Huntington’s Disease patients in Brazil
Perfil de los portadores de la Enfermedad de Huntington en Brasil
Perfil dos portadores da Doença de Huntington no Brasil
title Profile of Huntington’s Disease patients in Brazil
spellingShingle Profile of Huntington’s Disease patients in Brazil
Cariman, Mariana Oliveira Ramalho
Huntington's Disease
Epidemiology
Brazil.
Doença de Huntington
Epidemiologia
Brasil.
Enfermedad de Huntington
Epidemiología
Brasil.
title_short Profile of Huntington’s Disease patients in Brazil
title_full Profile of Huntington’s Disease patients in Brazil
title_fullStr Profile of Huntington’s Disease patients in Brazil
title_full_unstemmed Profile of Huntington’s Disease patients in Brazil
title_sort Profile of Huntington’s Disease patients in Brazil
author Cariman, Mariana Oliveira Ramalho
author_facet Cariman, Mariana Oliveira Ramalho
Sesti, Luís Fernando Castagnino
author_role author
author2 Sesti, Luís Fernando Castagnino
author2_role author
dc.contributor.author.fl_str_mv Cariman, Mariana Oliveira Ramalho
Sesti, Luís Fernando Castagnino
dc.subject.por.fl_str_mv Huntington's Disease
Epidemiology
Brazil.
Doença de Huntington
Epidemiologia
Brasil.
Enfermedad de Huntington
Epidemiología
Brasil.
topic Huntington's Disease
Epidemiology
Brazil.
Doença de Huntington
Epidemiologia
Brasil.
Enfermedad de Huntington
Epidemiología
Brasil.
description Huntington's Disease is a progressive neurodegenerative disorder of genetic and autosomal dominant origin. In Brazil, there are no official data on the prevalence of Huntington's Disease, which can lead to difficulties in its diagnosis and in the multidisciplinary follow-up of the patient, so the objective of this study is to describe the profile of Huntington's Disease carriers in Brazil presenting difficulties for diagnosis and treatment of symptoms. The research was carried out by filling out an online questionnaire, using the Google Forms tool, by people with Huntington's Disease, family members or caregivers. We obtained 80 research participants, 55 female and 24 male. Most of them, 43.80%, are not aware of the amount of repetitions of the CAG nucleotides and 40% have 40 to 55 repetitions, which are related to the intensity of symptoms and age of onset. The most frequent initial symptoms were motor, present in 41.3% of the individuals, followed by 22.5% psychiatric, 27.5% had motor and psychiatric disorders, 3.8% cognitive and motor, 2.5% only of cognitive and 1.3% psychiatric and cognitive. Most users, both from the private health network and from the Unified Health System, are dissatisfied with the services offered to treat the symptoms of this disease. There is a need for greater dissemination of Huntington's Disease in the country in order to make molecular diagnosis accessible and multidisciplinary follow-up possible, thus improving the quality of life of patients.
publishDate 2022
dc.date.none.fl_str_mv 2022-05-15
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/29565
10.33448/rsd-v11i7.29565
url https://rsdjournal.org/index.php/rsd/article/view/29565
identifier_str_mv 10.33448/rsd-v11i7.29565
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/29565/25628
dc.rights.driver.fl_str_mv Copyright (c) 2022 Mariana Oliveira Ramalho Cariman; Luís Fernando Castagnino Sesti
https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Copyright (c) 2022 Mariana Oliveira Ramalho Cariman; Luís Fernando Castagnino Sesti
https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Research, Society and Development
publisher.none.fl_str_mv Research, Society and Development
dc.source.none.fl_str_mv Research, Society and Development; Vol. 11 No. 7; e6511729565
Research, Society and Development; Vol. 11 Núm. 7; e6511729565
Research, Society and Development; v. 11 n. 7; e6511729565
2525-3409
reponame:Research, Society and Development
instname:Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI
instname_str Universidade Federal de Itajubá (UNIFEI)
instacron_str UNIFEI
institution UNIFEI
reponame_str Research, Society and Development
collection Research, Society and Development
repository.name.fl_str_mv Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)
repository.mail.fl_str_mv rsd.articles@gmail.com
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