Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.4/1497 |
Resumo: | Developmental Delay (DD) and Intellectual Disability (ID), depending on the affected individual being under or above five years-old, result from environmental or genetic causes during the developmental period, that manifest as a subnormal functioning of intellectual abilities. In western countries there is a prevalence of about 3%, with a great impact in the individuals, their families, as well as in the society. Etiologic diagnosis remains unknown in about 65-80% of the cases. It is a clinically heterogeneous condition as it can be sporadic or familiar, encompassing an autosomal dominant, recessive or X-linked transmission. Etiologic investigation emphasizes the importance of the clinical and family history as well as the physical examination, with special care for dysmorphologic evaluation. The authors reviewed DD/ ID focusing not only on clinical diagnosis but mostly on genetic causes and etiologic investigation. The protocol presented is followed by the Medical Genetics Department of Coimbra’s Paediatrics Hospital, in accordance to the international consensus. |
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Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice IntelectualEtiologic Evaluation and Investigation of Global Development Delay and Intellectual DisabilityDesenvolvimento da CriançaPerturbações do DesenvolvimentoDeficiência IntelectualDevelopmental Delay (DD) and Intellectual Disability (ID), depending on the affected individual being under or above five years-old, result from environmental or genetic causes during the developmental period, that manifest as a subnormal functioning of intellectual abilities. In western countries there is a prevalence of about 3%, with a great impact in the individuals, their families, as well as in the society. Etiologic diagnosis remains unknown in about 65-80% of the cases. It is a clinically heterogeneous condition as it can be sporadic or familiar, encompassing an autosomal dominant, recessive or X-linked transmission. Etiologic investigation emphasizes the importance of the clinical and family history as well as the physical examination, with special care for dysmorphologic evaluation. The authors reviewed DD/ ID focusing not only on clinical diagnosis but mostly on genetic causes and etiologic investigation. The protocol presented is followed by the Medical Genetics Department of Coimbra’s Paediatrics Hospital, in accordance to the international consensus.RIHUCOliveira, RRodrigues, FVenâncio, MSaraiva, JMFernandes, B2013-02-04T15:12:45Z20122012-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/1497porSaúde Infantil. 2012; 34(3): 5-10info: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:RCAAP2023-07-11T14:22:46ZPortal AgregadorONG |
dc.title.none.fl_str_mv |
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual Etiologic Evaluation and Investigation of Global Development Delay and Intellectual Disability |
title |
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual |
spellingShingle |
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual Oliveira, R Desenvolvimento da Criança Perturbações do Desenvolvimento Deficiência Intelectual |
title_short |
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual |
title_full |
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual |
title_fullStr |
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual |
title_full_unstemmed |
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual |
title_sort |
Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual |
author |
Oliveira, R |
author_facet |
Oliveira, R Rodrigues, F Venâncio, M Saraiva, JM Fernandes, B |
author_role |
author |
author2 |
Rodrigues, F Venâncio, M Saraiva, JM Fernandes, B |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
RIHUC |
dc.contributor.author.fl_str_mv |
Oliveira, R Rodrigues, F Venâncio, M Saraiva, JM Fernandes, B |
dc.subject.por.fl_str_mv |
Desenvolvimento da Criança Perturbações do Desenvolvimento Deficiência Intelectual |
topic |
Desenvolvimento da Criança Perturbações do Desenvolvimento Deficiência Intelectual |
description |
Developmental Delay (DD) and Intellectual Disability (ID), depending on the affected individual being under or above five years-old, result from environmental or genetic causes during the developmental period, that manifest as a subnormal functioning of intellectual abilities. In western countries there is a prevalence of about 3%, with a great impact in the individuals, their families, as well as in the society. Etiologic diagnosis remains unknown in about 65-80% of the cases. It is a clinically heterogeneous condition as it can be sporadic or familiar, encompassing an autosomal dominant, recessive or X-linked transmission. Etiologic investigation emphasizes the importance of the clinical and family history as well as the physical examination, with special care for dysmorphologic evaluation. The authors reviewed DD/ ID focusing not only on clinical diagnosis but mostly on genetic causes and etiologic investigation. The protocol presented is followed by the Medical Genetics Department of Coimbra’s Paediatrics Hospital, in accordance to the international consensus. |
publishDate |
2012 |
dc.date.none.fl_str_mv |
2012 2012-01-01T00:00:00Z 2013-02-04T15:12:45Z |
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 |
http://hdl.handle.net/10400.4/1497 |
url |
http://hdl.handle.net/10400.4/1497 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
Saúde Infantil. 2012; 34(3): 5-10 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
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 |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
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) |
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1777303112207302656 |