Etiological Investigation of Autism Spectrum Disorders – State of The Art
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.25753/BirthGrowthMJ.v27.i3.12106 |
Resumo: | Autism Spectrum Disorder is a Neurodevelopmental Disorder characterized by deficits in social interaction and by the presence of restricted, repetitive and stereotyped patterns of behaviours, interests, and activities. The aetiology of Autism Spectrum Disorder is often genetic, with several monogenic diseases clearly associated with this disorder. Significant advances in molecular genetics have increased the rate of etiological diagnosis of Autism Spectrum Disorder to about 30-40% in the last decade. The establishment of a definitive etiological diagnosis facilitates referral to community support services, contributes to knowledge of possible associated medical conditions and prevention of morbidity and mortality, while also eliminating inadequate diagnostic tests and allowing individualized genetic counselling. The authors present a proposal for an etiological investigation of this pathology, including criteria for performing complementary metabolic evaluation, neuroimaging and electroencephalography, and various genetic studies (conventional cytogenetics, Array-Comparative Genomic Hybridization, targeted molecular studies, multi-gene panels and Whole Exome Sequencing). |
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Etiological Investigation of Autism Spectrum Disorders – State of The ArtInvestigação Etiológica da Perturbação do Espetro do Autismo – o Estado da ArteReview ArticlesAutism Spectrum Disorder is a Neurodevelopmental Disorder characterized by deficits in social interaction and by the presence of restricted, repetitive and stereotyped patterns of behaviours, interests, and activities. The aetiology of Autism Spectrum Disorder is often genetic, with several monogenic diseases clearly associated with this disorder. Significant advances in molecular genetics have increased the rate of etiological diagnosis of Autism Spectrum Disorder to about 30-40% in the last decade. The establishment of a definitive etiological diagnosis facilitates referral to community support services, contributes to knowledge of possible associated medical conditions and prevention of morbidity and mortality, while also eliminating inadequate diagnostic tests and allowing individualized genetic counselling. The authors present a proposal for an etiological investigation of this pathology, including criteria for performing complementary metabolic evaluation, neuroimaging and electroencephalography, and various genetic studies (conventional cytogenetics, Array-Comparative Genomic Hybridization, targeted molecular studies, multi-gene panels and Whole Exome Sequencing).A Perturbação do Espetro do Autismo é uma Perturbação do Neurodesenvolvimento, que se carateriza por défice na interação social e pela presença de padrões restritos, repetitivos e estereotipados de comportamentos, interesses e atividades. A etiologia das Perturbações do Espetro do Autismo é frequentemente genética, existindo várias doenças monogénicas claramente associadas a esta perturbação. Avanços significativos na genética molecular aumentaram a taxa de diagnóstico etiológico para cerca de 30 a 40% na última década. O estabelecimento de um diagnóstico etiológico definitivo facilita a referenciação para os serviços de apoio na comunidade, contribui para o conhecimento de eventuais condições médicas associadas e para a prevenção da morbimortalidade, elimina a realização de exames auxiliares de diagnóstico inadequados e facilita o aconselhamento genético individualizado. Os autores apresentam uma proposta de investigação etiológica desta patologia, incluindo critérios para realização de avaliação metabólica complementar, realização de neuroimagem e eletroencefalograma e variados estudos genéticos (citogenética convencional, arrays de hibridização genómica comparativa, estudos moleculares dirigidos, painéis multigénicos e sequenciação exómica completa).Centro Hospitalar Universitário do Porto2018-10-17T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v27.i3.12106eng2183-9417Gonçalves, DanielGuardiano, MicaelaLeão, Miguelinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T14:55:25Zoai:ojs.revistas.rcaap.pt:article/12106Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:56:24.096389Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Etiological Investigation of Autism Spectrum Disorders – State of The Art Investigação Etiológica da Perturbação do Espetro do Autismo – o Estado da Arte |
title |
Etiological Investigation of Autism Spectrum Disorders – State of The Art |
spellingShingle |
Etiological Investigation of Autism Spectrum Disorders – State of The Art Gonçalves, Daniel Review Articles |
title_short |
Etiological Investigation of Autism Spectrum Disorders – State of The Art |
title_full |
Etiological Investigation of Autism Spectrum Disorders – State of The Art |
title_fullStr |
Etiological Investigation of Autism Spectrum Disorders – State of The Art |
title_full_unstemmed |
Etiological Investigation of Autism Spectrum Disorders – State of The Art |
title_sort |
Etiological Investigation of Autism Spectrum Disorders – State of The Art |
author |
Gonçalves, Daniel |
author_facet |
Gonçalves, Daniel Guardiano, Micaela Leão, Miguel |
author_role |
author |
author2 |
Guardiano, Micaela Leão, Miguel |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Gonçalves, Daniel Guardiano, Micaela Leão, Miguel |
dc.subject.por.fl_str_mv |
Review Articles |
topic |
Review Articles |
description |
Autism Spectrum Disorder is a Neurodevelopmental Disorder characterized by deficits in social interaction and by the presence of restricted, repetitive and stereotyped patterns of behaviours, interests, and activities. The aetiology of Autism Spectrum Disorder is often genetic, with several monogenic diseases clearly associated with this disorder. Significant advances in molecular genetics have increased the rate of etiological diagnosis of Autism Spectrum Disorder to about 30-40% in the last decade. The establishment of a definitive etiological diagnosis facilitates referral to community support services, contributes to knowledge of possible associated medical conditions and prevention of morbidity and mortality, while also eliminating inadequate diagnostic tests and allowing individualized genetic counselling. The authors present a proposal for an etiological investigation of this pathology, including criteria for performing complementary metabolic evaluation, neuroimaging and electroencephalography, and various genetic studies (conventional cytogenetics, Array-Comparative Genomic Hybridization, targeted molecular studies, multi-gene panels and Whole Exome Sequencing). |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-10-17T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.25753/BirthGrowthMJ.v27.i3.12106 |
url |
https://doi.org/10.25753/BirthGrowthMJ.v27.i3.12106 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2183-9417 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Centro Hospitalar Universitário do Porto |
publisher.none.fl_str_mv |
Centro Hospitalar Universitário do Porto |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799130432542867456 |