Etiological investigation of genetic cause in autism spectrum disorder
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...
| Autores: | , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2021 |
| País: | Brasil |
| Institución: | Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS) |
| Repositorio: | Scientia Medica (Porto Alegre. Online) |
| Idioma: | inglés |
| OAI Identifier: | oai:ojs.revistaseletronicas.pucrs.br:article/39581 |
| Acceso en línea: | https://revistaseletronicas.pucrs.br/scientiamedica/article/view/39581 |
| Access Level: | acceso abierto |
| Palabra clave: | Autism Spectrum Disorder Neurodevelopmental Disorders Genetic Testing Transtorno do Espetro Autista Distúrbios do Neurodesenvolvimento Testes genéticos |
| Sumario: | 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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