Open AccessEtiological investigation of genetic cause in autism spectrum disorder
Author(s) -
Carla Andreia Esteves Fernandes,
Ana Francisca Henriques Cardoso,
Caroline Reis Lopes,
Margarida Maria Videira Henriques,
Ester Miranda da Silva Pereira
Publication year - 2021
Publication title -
scientia medica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.158
H-Index - 7
eISSN - 1980-6108
pISSN - 1806-5562
DOI - 10.15448/1980-6108.2021.1.39581
Subject(s) - etiology , autism , family history , autism spectrum disorder , intellectual disability , medicine , rett syndrome , genetic diagnosis , clinical psychology , psychiatry , pediatrics , psychology , genetics , biology , gene
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.