Aetiological evaluation of mental retardation in Brazilian patients
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Clinical and Biomedical Research |
Texto Completo: | https://seer.ufrgs.br/index.php/hcpa/article/view/126024 |
Resumo: | INTRODUCTION: Mental retardation is present in approximately 2-3 % of the population. Clinical geneticists are frequently asked to evaluate children with development delay or mental retardation. Identifying the cause of the mental retardation will benefit individuals and families, answering questions about management, prognosis, recurrence risks and prevention.MATERIAL AND METHODS: A genetic diagnostic survey in a population of 260 mentally retarded institutionalized patients in the South of Brazil is presented.RESULTS: The patients had a male:female ratio of 1.3:1 and their ages varied from 1 month to 47 years with a mean of 5 years and one month. Using personal and family data, careful clinical examination and laboratory investigation, the authors established a definitive diagnosis in 171 patients (65.76%). A constitutional disorder was present in 147 patients (56.53%).CONCLUSION: Down syndrome patients represented 32.30% and 3,84% had other chromosomal anomalies, including microdeletion syndromes. In 32 patients (12.30%) a mendelian inheritance disorder was diagnosed. In eleven patients (4.23%) a MCA/MR syndrome was recorded. Ten patients (3.84%) presented a CNS malformation. An acquired condition was observed in 26 patients (10%), representing 7.69 % of CNS dysfunction, 2.3% of pre- or postnatal infection and 0.4% of postnatally acquired conditions other than infections. In the remaining 87 patients (34.46%) a conclusive diagnosis was not possible. |
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Aetiological evaluation of mental retardation in Brazilian patientsAvaliação etiológica da deficiência mental em pacientes brasileirosGenética da deficiência mentaletiologiasíndromes de ACM/RMsíndromesGenetics of mental retardationetiologiaMCA/MR syndromessyndromesINTRODUCTION: Mental retardation is present in approximately 2-3 % of the population. Clinical geneticists are frequently asked to evaluate children with development delay or mental retardation. Identifying the cause of the mental retardation will benefit individuals and families, answering questions about management, prognosis, recurrence risks and prevention.MATERIAL AND METHODS: A genetic diagnostic survey in a population of 260 mentally retarded institutionalized patients in the South of Brazil is presented.RESULTS: The patients had a male:female ratio of 1.3:1 and their ages varied from 1 month to 47 years with a mean of 5 years and one month. Using personal and family data, careful clinical examination and laboratory investigation, the authors established a definitive diagnosis in 171 patients (65.76%). A constitutional disorder was present in 147 patients (56.53%).CONCLUSION: Down syndrome patients represented 32.30% and 3,84% had other chromosomal anomalies, including microdeletion syndromes. In 32 patients (12.30%) a mendelian inheritance disorder was diagnosed. In eleven patients (4.23%) a MCA/MR syndrome was recorded. Ten patients (3.84%) presented a CNS malformation. An acquired condition was observed in 26 patients (10%), representing 7.69 % of CNS dysfunction, 2.3% of pre- or postnatal infection and 0.4% of postnatally acquired conditions other than infections. In the remaining 87 patients (34.46%) a conclusive diagnosis was not possible.INTRODUÇÃO: Retardo mental está presente em aproximadamente 2-3% da população. Geneticistas clínicos são chamados freqüentemente para avaliar crianças com atraso no de senvolvimento neuropsicomotor ou deficiência mental. A identificação da causa da deficiência mental irá beneficiar o indivíduo e famílias, respondendo questões sobre manejo, prognóstico, risco de recorrência e prevenção.MATERIAL E MÉTODOS: Análise genético-clínica numa população de 260 deficientes men tais de uma instituição é apresentada.RESULTADOS: Os 260 pacientes distribuíram-se numa razão de 1.3 do sexo masculino para 1 do sexo feminino. A idade variou de 1 mês a 47 anos com a mediana de 5 anos e um mês. Usando dados pessoais e familiares, exame físico detalhado e investigação laboratorial, os autores estabeleceram diagnóstico definitivo em 171 pacientes (65,76%). Alterações constitucionais estavam presentes em 147 pacientes (56,53%).CONCLUSÃO: Pacientes com Síndrome de Down representaram 32,20% e 3,84% apresentaram anomalias envolvendo outros cromossomos, incluindo síndromes de microdeleção. Em 32 pacientes (12,30%) uma doença mendeliana foi diagnosticada. Em 11 pacientes (4,23%) uma anomalia congênita múltipla/retardo mental (ACM/RM) foi diagnosticada. Dez pacientes (3,84%) apresentaram uma malformação do sistema nervoso central (SNC). Uma condição adquirida foi observada em 26 pacientes (10%), representando 7,69% de disfunção do SNC, 2,3% de infecção pre ou pós-natal e 0,4% de dano pós-natal, excluindo infecções. Em 87 pacientes (34,46%) não foi possível determinar um diagnóstico.HCPA/FAMED/UFRGS2022-07-22info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-reviewed ArticleAvaliado por Paresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/126024Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPAClinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSporhttps://seer.ufrgs.br/index.php/hcpa/article/view/126024/85594http://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessFélix, Têmis MariaC. L. Leite, Júlio W. Maluf, Sharbel C. Coelho, Janice 2022-07-22T13:58:13Zoai:seer.ufrgs.br:article/126024Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2022-07-22T13:58:13Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.none.fl_str_mv |
Aetiological evaluation of mental retardation in Brazilian patients Avaliação etiológica da deficiência mental em pacientes brasileiros |
title |
Aetiological evaluation of mental retardation in Brazilian patients |
spellingShingle |
Aetiological evaluation of mental retardation in Brazilian patients Félix, Têmis Maria Genética da deficiência mental etiologia síndromes de ACM/RM síndromes Genetics of mental retardation etiologia MCA/MR syndromes syndromes |
title_short |
Aetiological evaluation of mental retardation in Brazilian patients |
title_full |
Aetiological evaluation of mental retardation in Brazilian patients |
title_fullStr |
Aetiological evaluation of mental retardation in Brazilian patients |
title_full_unstemmed |
Aetiological evaluation of mental retardation in Brazilian patients |
title_sort |
Aetiological evaluation of mental retardation in Brazilian patients |
author |
Félix, Têmis Maria |
author_facet |
Félix, Têmis Maria C. L. Leite, Júlio W. Maluf, Sharbel C. Coelho, Janice |
author_role |
author |
author2 |
C. L. Leite, Júlio W. Maluf, Sharbel C. Coelho, Janice |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Félix, Têmis Maria C. L. Leite, Júlio W. Maluf, Sharbel C. Coelho, Janice |
dc.subject.por.fl_str_mv |
Genética da deficiência mental etiologia síndromes de ACM/RM síndromes Genetics of mental retardation etiologia MCA/MR syndromes syndromes |
topic |
Genética da deficiência mental etiologia síndromes de ACM/RM síndromes Genetics of mental retardation etiologia MCA/MR syndromes syndromes |
description |
INTRODUCTION: Mental retardation is present in approximately 2-3 % of the population. Clinical geneticists are frequently asked to evaluate children with development delay or mental retardation. Identifying the cause of the mental retardation will benefit individuals and families, answering questions about management, prognosis, recurrence risks and prevention.MATERIAL AND METHODS: A genetic diagnostic survey in a population of 260 mentally retarded institutionalized patients in the South of Brazil is presented.RESULTS: The patients had a male:female ratio of 1.3:1 and their ages varied from 1 month to 47 years with a mean of 5 years and one month. Using personal and family data, careful clinical examination and laboratory investigation, the authors established a definitive diagnosis in 171 patients (65.76%). A constitutional disorder was present in 147 patients (56.53%).CONCLUSION: Down syndrome patients represented 32.30% and 3,84% had other chromosomal anomalies, including microdeletion syndromes. In 32 patients (12.30%) a mendelian inheritance disorder was diagnosed. In eleven patients (4.23%) a MCA/MR syndrome was recorded. Ten patients (3.84%) presented a CNS malformation. An acquired condition was observed in 26 patients (10%), representing 7.69 % of CNS dysfunction, 2.3% of pre- or postnatal infection and 0.4% of postnatally acquired conditions other than infections. In the remaining 87 patients (34.46%) a conclusive diagnosis was not possible. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-07-22 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Peer-reviewed Article Avaliado por Pares |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/126024 |
url |
https://seer.ufrgs.br/index.php/hcpa/article/view/126024 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/126024/85594 |
dc.rights.driver.fl_str_mv |
http://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
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 |
HCPA/FAMED/UFRGS |
publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
dc.source.none.fl_str_mv |
Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPA Clinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA 2357-9730 reponame:Clinical and Biomedical Research instname:Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS |
instname_str |
Universidade Federal do Rio Grande do Sul (UFRGS) |
instacron_str |
UFRGS |
institution |
UFRGS |
reponame_str |
Clinical and Biomedical Research |
collection |
Clinical and Biomedical Research |
repository.name.fl_str_mv |
Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS) |
repository.mail.fl_str_mv |
||cbr@hcpa.edu.br |
_version_ |
1750135160285691904 |