Etiological investigation of genetic cause in autism spectrum disorder
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Scientia Medica (Porto Alegre. Online) |
Texto Completo: | https://revistaseletronicas.pucrs.br/scientiamedica/article/view/39581 |
Resumo: | AIMS: The aims of this study were to characterize the etiological investigation of genetic cause in the autism spectrum disorder and to determine the factors related to its identification.METHODS: A retrospective descriptive study, with an analytical component, included children and adolescents with autism spectrum disorder followed in consultation at a level 2 hospital, between November 2017 and October 2019. The following variables were analyzed: age, sex, age at the first consultation, family history, objective examination, cognitive assessment, etiological investigation of genetic cause and etiological diagnosis of genetic cause. Statistical analysis was performed using the SPSS®v23 program (significance level 0.05).RESULTS: We identified 153 children with autism spectrum disorder, of which 48 underwent a genetic cause investigation: 45 performed microarray analysis (15.6% pathogenic); 42 carried out a molecular study of the Fragile X syndrome (one altered); two performed sequencing of the methyl CpG binding protein 2 (MECP2) gene (one altered). The diagnosis of genetic cause was made in 18.8% of the sample. The identification of the etiology of a genetic cause was related to global development delay/ intellectual disability (p = 0.04) and the presence of relevant family history (p = 0.005).CONCLUSIONS: The diagnostic yield of the genetic study was higher in patients with a global development delay /intellectual disability and in patients with relevant family history. |
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Etiological investigation of genetic cause in autism spectrum disorderInvestigação etiológica de causa genética na perturbação do espetro do autismoAutism Spectrum DisorderNeurodevelopmental DisordersGenetic TestingTranstorno do Espetro AutistaDistúrbios do NeurodesenvolvimentoTestes genéticosAIMS: The aims of this study were to characterize the etiological investigation of genetic cause in the autism spectrum disorder and to determine the factors related to its identification.METHODS: A retrospective descriptive study, with an analytical component, included children and adolescents with autism spectrum disorder followed in consultation at a level 2 hospital, between November 2017 and October 2019. The following variables were analyzed: age, sex, age at the first consultation, family history, objective examination, cognitive assessment, etiological investigation of genetic cause and etiological diagnosis of genetic cause. Statistical analysis was performed using the SPSS®v23 program (significance level 0.05).RESULTS: We identified 153 children with autism spectrum disorder, of which 48 underwent a genetic cause investigation: 45 performed microarray analysis (15.6% pathogenic); 42 carried out a molecular study of the Fragile X syndrome (one altered); two performed sequencing of the methyl CpG binding protein 2 (MECP2) gene (one altered). The diagnosis of genetic cause was made in 18.8% of the sample. The identification of the etiology of a genetic cause was related to global development delay/ intellectual disability (p = 0.04) and the presence of relevant family history (p = 0.005).CONCLUSIONS: The diagnostic yield of the genetic study was higher in patients with a global development delay /intellectual disability and in patients with relevant family history.OBJETIVOS: Os objetivos deste estudo foram caracterizar a investigação etiológica de causa genética na perturbação do espetro do autismo e determinar os fatores que se relacionam com a sua identificação.MÉTODOS: Um estudo retrospetivo descritivo, com componente analítica, incluiu crianças e adolescentes com perturbação do espetro de autismo seguidos em consulta num hospital nível 2 entre novembro de 2017 e outubro de 2019. As seguintes variáveis foram analisadas: idade, sexo, idade na primeira consulta, antecedentes familiares, exame objetivo, avaliação cognitiva, investigação etiológica de causa genética e diagnóstico etiológico de causa genética. A análise estatística foi realizada utilizando o programa SPSS®v23 (nível de significância 0,05).RESULTADOS: Identificámos 153 crianças com perturbação do espetro de autismo, das quais 48 realizaram investigação etiológica de causa genética: 45 realizaram microarray (alterações patogénicas 15,6%); 42 realizaram estudo molecular da síndrome X-Frágil (um alterado); dois realizaram sequenciação do gene MECP2 (um alterado). O diagnóstico de causa genética foi feito em 18,8% da amostra. A identificação de etiologia de causa genética relacionou-se com défice intelectual/atraso global do desenvolvimento psicomotor (p=0,04) e com a presença de antecedentes familiares relevantes (p=0,005).CONCLUSÕES: A rentabilidade diagnóstica do estudo genético foi superior em doentes com atraso global do desenvolvimento psicomotor/défice intelectual associado e com antecedentes familiares relevantes.Editora da PUCRS - ediPUCRS2021-05-27info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/3958110.15448/1980-6108.2021.1.39581Scientia Medica; Vol. 31 No. 1 (2021): Single Volume; e39581Scientia Medica; v. 31 n. 1 (2021): Volume Único; e395811980-61081806-556210.15448/1980-6108.2021.1reponame:Scientia Medica (Porto Alegre. Online)instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)instacron:PUC_RSenghttps://revistaseletronicas.pucrs.br/scientiamedica/article/view/39581/26799Copyright (c) 2021 Scientia Medicahttp://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessFernandes, Carla Andreia EstevesCardoso, Ana Francisca HenriquesLopes, Caroline ReisHenriques, Margarida Maria VideiraPereira, Ester Preciosa Maio Nunes2022-01-25T17:01:59Zoai:ojs.revistaseletronicas.pucrs.br:article/39581Revistahttps://revistaseletronicas.pucrs.br/scientiamedica/PUBhttps://revistaseletronicas.pucrs.br/scientiamedica/oaiscientiamedica@pucrs.br || editora.periodicos@pucrs.br1980-61081806-5562opendoar:2022-01-25T17:01:59Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)false |
dc.title.none.fl_str_mv |
Etiological investigation of genetic cause in autism spectrum disorder Investigação etiológica de causa genética na perturbação do espetro do autismo |
title |
Etiological investigation of genetic cause in autism spectrum disorder |
spellingShingle |
Etiological investigation of genetic cause in autism spectrum disorder Fernandes, Carla Andreia Esteves Autism Spectrum Disorder Neurodevelopmental Disorders Genetic Testing Transtorno do Espetro Autista Distúrbios do Neurodesenvolvimento Testes genéticos |
title_short |
Etiological investigation of genetic cause in autism spectrum disorder |
title_full |
Etiological investigation of genetic cause in autism spectrum disorder |
title_fullStr |
Etiological investigation of genetic cause in autism spectrum disorder |
title_full_unstemmed |
Etiological investigation of genetic cause in autism spectrum disorder |
title_sort |
Etiological investigation of genetic cause in autism spectrum disorder |
author |
Fernandes, Carla Andreia Esteves |
author_facet |
Fernandes, Carla Andreia Esteves Cardoso, Ana Francisca Henriques Lopes, Caroline Reis Henriques, Margarida Maria Videira Pereira, Ester Preciosa Maio Nunes |
author_role |
author |
author2 |
Cardoso, Ana Francisca Henriques Lopes, Caroline Reis Henriques, Margarida Maria Videira Pereira, Ester Preciosa Maio Nunes |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Fernandes, Carla Andreia Esteves Cardoso, Ana Francisca Henriques Lopes, Caroline Reis Henriques, Margarida Maria Videira Pereira, Ester Preciosa Maio Nunes |
dc.subject.por.fl_str_mv |
Autism Spectrum Disorder Neurodevelopmental Disorders Genetic Testing Transtorno do Espetro Autista Distúrbios do Neurodesenvolvimento Testes genéticos |
topic |
Autism Spectrum Disorder Neurodevelopmental Disorders Genetic Testing Transtorno do Espetro Autista Distúrbios do Neurodesenvolvimento Testes genéticos |
description |
AIMS: The aims of this study were to characterize the etiological investigation of genetic cause in the autism spectrum disorder and to determine the factors related to its identification.METHODS: A retrospective descriptive study, with an analytical component, included children and adolescents with autism spectrum disorder followed in consultation at a level 2 hospital, between November 2017 and October 2019. The following variables were analyzed: age, sex, age at the first consultation, family history, objective examination, cognitive assessment, etiological investigation of genetic cause and etiological diagnosis of genetic cause. Statistical analysis was performed using the SPSS®v23 program (significance level 0.05).RESULTS: We identified 153 children with autism spectrum disorder, of which 48 underwent a genetic cause investigation: 45 performed microarray analysis (15.6% pathogenic); 42 carried out a molecular study of the Fragile X syndrome (one altered); two performed sequencing of the methyl CpG binding protein 2 (MECP2) gene (one altered). The diagnosis of genetic cause was made in 18.8% of the sample. The identification of the etiology of a genetic cause was related to global development delay/ intellectual disability (p = 0.04) and the presence of relevant family history (p = 0.005).CONCLUSIONS: The diagnostic yield of the genetic study was higher in patients with a global development delay /intellectual disability and in patients with relevant family history. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-05-27 |
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://revistaseletronicas.pucrs.br/scientiamedica/article/view/39581 10.15448/1980-6108.2021.1.39581 |
url |
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/39581 |
identifier_str_mv |
10.15448/1980-6108.2021.1.39581 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://revistaseletronicas.pucrs.br/scientiamedica/article/view/39581/26799 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2021 Scientia Medica http://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2021 Scientia Medica http://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 |
Editora da PUCRS - ediPUCRS |
publisher.none.fl_str_mv |
Editora da PUCRS - ediPUCRS |
dc.source.none.fl_str_mv |
Scientia Medica; Vol. 31 No. 1 (2021): Single Volume; e39581 Scientia Medica; v. 31 n. 1 (2021): Volume Único; e39581 1980-6108 1806-5562 10.15448/1980-6108.2021.1 reponame:Scientia Medica (Porto Alegre. Online) instname:Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) instacron:PUC_RS |
instname_str |
Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) |
instacron_str |
PUC_RS |
institution |
PUC_RS |
reponame_str |
Scientia Medica (Porto Alegre. Online) |
collection |
Scientia Medica (Porto Alegre. Online) |
repository.name.fl_str_mv |
Scientia Medica (Porto Alegre. Online) - Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) |
repository.mail.fl_str_mv |
scientiamedica@pucrs.br || editora.periodicos@pucrs.br |
_version_ |
1809101752462475264 |