General and oral characteristics of Rett syndrome: case report

Detalhes bibliográficos
Autor(a) principal: Pereira, Karina Gesuele
Data de Publicação: 2017
Outros Autores: Alves, Gisele Rafael, Jóias, Renato Morales, Josgrilberg, Erika Botelho, Jóias, Renata Pilli
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. 
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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. 
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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
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