General and oral characteristics of Rett syndrome: case report
Autor(a) principal: | |
---|---|
Data de Publicação: | 2017 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng por |
Título da fonte: | Brazilian Dental Science |
Texto Completo: | https://ojs.ict.unesp.br/index.php/cob/article/view/1410 |
Resumo: | Introduction: Rett syndrome is a neurodegenerative disease that affects females of all races worldwide. It is the second most frequent cause of mental disability in girls. Objective: To describe the general and oral characteristics at stage three. Case report: A girl aged seven years and seven months, leukoderma, coming from Vallo della Lucania, Salerno, Italy was at the stage three of Rett syndrome. At the first stage, from six to eighteen months of life, the girl ate by herself, but she did not walk. At the second stage, from eighteen months of life, she started the ataxic gait and stopped talking. At the third stage, she had the reduction of the autist behavior, improved the eye contact, smile and communicative abilities. The genetic examination revealed de novo mutation, that is, without inheritance. Conclusion: Rett syndrome lacks specific treatment. Adjuvant therapies include physiotherapy, hydrotherapy, occupational therapy, music therapy, equine therapy, as well as therapies to treat some symptoms. A multidisciplinary treatment is required. The prognosis consists of following-up the individual throughout life, treating the symptoms.Keywords: Autistic Disorder, Chronic disease, Epilepsy, Intellectual Disability, Rett Syndrome. |
id |
UNESP-20_684c1def7422a1aee406b861cb50caff |
---|---|
oai_identifier_str |
oai:ojs.pkp.sfu.ca:article/1410 |
network_acronym_str |
UNESP-20 |
network_name_str |
Brazilian Dental Science |
repository_id_str |
|
spelling |
General and oral characteristics of Rett syndrome: case reportIntroduction: Rett syndrome is a neurodegenerative disease that affects females of all races worldwide. It is the second most frequent cause of mental disability in girls. Objective: To describe the general and oral characteristics at stage three. Case report: A girl aged seven years and seven months, leukoderma, coming from Vallo della Lucania, Salerno, Italy was at the stage three of Rett syndrome. At the first stage, from six to eighteen months of life, the girl ate by herself, but she did not walk. At the second stage, from eighteen months of life, she started the ataxic gait and stopped talking. At the third stage, she had the reduction of the autist behavior, improved the eye contact, smile and communicative abilities. The genetic examination revealed de novo mutation, that is, without inheritance. Conclusion: Rett syndrome lacks specific treatment. Adjuvant therapies include physiotherapy, hydrotherapy, occupational therapy, music therapy, equine therapy, as well as therapies to treat some symptoms. A multidisciplinary treatment is required. The prognosis consists of following-up the individual throughout life, treating the symptoms.Keywords: Autistic Disorder, Chronic disease, Epilepsy, Intellectual Disability, Rett Syndrome. Institute of Science and Technology of São José dos Campos2017-09-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfapplication/mswordapplication/mswordapplication/pdfimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegapplication/mswordapplication/pdfhttps://ojs.ict.unesp.br/index.php/cob/article/view/141010.14295/bds.2017.v20i3.1410Brazilian Dental Science; Vol. 20 No. 3 (2017): Jul. - Sep. / 2017 - Published September 2017; 142-150Brazilian Dental Science; v. 20 n. 3 (2017): Jul. - Sep. / 2017 - Published September 2017; 142-1502178-6011reponame:Brazilian Dental Scienceinstname:Universidade Estadual Paulista Júlio de Mesquita Filho (UNESP)instacron:UNESPengporhttps://ojs.ict.unesp.br/index.php/cob/article/view/1410/1177https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2945https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2946https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2947https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2948https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2949https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2950https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2951https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2952https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2953https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2954https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2955https://ojs.ict.unesp.br/index.php/cob/article/view/1410/3002https://ojs.ict.unesp.br/index.php/cob/article/view/1410/3003Copyright (c) 2017 Brazilian Dental Scienceinfo:eu-repo/semantics/openAccessPereira, Karina GesueleAlves, Gisele RafaelJóias, Renato MoralesJosgrilberg, Erika BotelhoJóias, Renata Pilli2020-01-28T12:13:41Zoai:ojs.pkp.sfu.ca:article/1410Revistahttp://bds.ict.unesp.br/PUBhttp://ojs.fosjc.unesp.br/index.php/index/oaisergio@fosjc.unesp.br||sergio@fosjc.unesp.br2178-60112178-6011opendoar:2022-11-08T16:30:11.920684Brazilian Dental Science - Universidade Estadual Paulista Júlio de Mesquita Filho (UNESP)true |
dc.title.none.fl_str_mv |
General and oral characteristics of Rett syndrome: case report |
title |
General and oral characteristics of Rett syndrome: case report |
spellingShingle |
General and oral characteristics of Rett syndrome: case report Pereira, Karina Gesuele |
title_short |
General and oral characteristics of Rett syndrome: case report |
title_full |
General and oral characteristics of Rett syndrome: case report |
title_fullStr |
General and oral characteristics of Rett syndrome: case report |
title_full_unstemmed |
General and oral characteristics of Rett syndrome: case report |
title_sort |
General and oral characteristics of Rett syndrome: case report |
author |
Pereira, Karina Gesuele |
author_facet |
Pereira, Karina Gesuele Alves, Gisele Rafael Jóias, Renato Morales Josgrilberg, Erika Botelho Jóias, Renata Pilli |
author_role |
author |
author2 |
Alves, Gisele Rafael Jóias, Renato Morales Josgrilberg, Erika Botelho Jóias, Renata Pilli |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Pereira, Karina Gesuele Alves, Gisele Rafael Jóias, Renato Morales Josgrilberg, Erika Botelho Jóias, Renata Pilli |
description |
Introduction: Rett syndrome is a neurodegenerative disease that affects females of all races worldwide. It is the second most frequent cause of mental disability in girls. Objective: To describe the general and oral characteristics at stage three. Case report: A girl aged seven years and seven months, leukoderma, coming from Vallo della Lucania, Salerno, Italy was at the stage three of Rett syndrome. At the first stage, from six to eighteen months of life, the girl ate by herself, but she did not walk. At the second stage, from eighteen months of life, she started the ataxic gait and stopped talking. At the third stage, she had the reduction of the autist behavior, improved the eye contact, smile and communicative abilities. The genetic examination revealed de novo mutation, that is, without inheritance. Conclusion: Rett syndrome lacks specific treatment. Adjuvant therapies include physiotherapy, hydrotherapy, occupational therapy, music therapy, equine therapy, as well as therapies to treat some symptoms. A multidisciplinary treatment is required. The prognosis consists of following-up the individual throughout life, treating the symptoms.Keywords: Autistic Disorder, Chronic disease, Epilepsy, Intellectual Disability, Rett Syndrome. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-09-12 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://ojs.ict.unesp.br/index.php/cob/article/view/1410 10.14295/bds.2017.v20i3.1410 |
url |
https://ojs.ict.unesp.br/index.php/cob/article/view/1410 |
identifier_str_mv |
10.14295/bds.2017.v20i3.1410 |
dc.language.iso.fl_str_mv |
eng por |
language |
eng por |
dc.relation.none.fl_str_mv |
https://ojs.ict.unesp.br/index.php/cob/article/view/1410/1177 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2945 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2946 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2947 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2948 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2949 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2950 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2951 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2952 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2953 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2954 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/2955 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/3002 https://ojs.ict.unesp.br/index.php/cob/article/view/1410/3003 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2017 Brazilian Dental Science info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2017 Brazilian Dental Science |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/msword application/msword application/pdf image/jpeg image/jpeg image/jpeg image/jpeg image/jpeg image/jpeg image/jpeg application/msword application/pdf |
dc.publisher.none.fl_str_mv |
Institute of Science and Technology of São José dos Campos |
publisher.none.fl_str_mv |
Institute of Science and Technology of São José dos Campos |
dc.source.none.fl_str_mv |
Brazilian Dental Science; Vol. 20 No. 3 (2017): Jul. - Sep. / 2017 - Published September 2017; 142-150 Brazilian Dental Science; v. 20 n. 3 (2017): Jul. - Sep. / 2017 - Published September 2017; 142-150 2178-6011 reponame:Brazilian Dental Science instname:Universidade Estadual Paulista Júlio de Mesquita Filho (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista Júlio de Mesquita Filho (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Brazilian Dental Science |
collection |
Brazilian Dental Science |
repository.name.fl_str_mv |
Brazilian Dental Science - Universidade Estadual Paulista Júlio de Mesquita Filho (UNESP) |
repository.mail.fl_str_mv |
sergio@fosjc.unesp.br||sergio@fosjc.unesp.br |
_version_ |
1788346899851378688 |