Etiological investigation of genetic cause in autism spectrum disorder

Keywords: Autism Spectrum Disorder, Neurodevelopmental Disorders, Genetic Testing


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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Author Biographies

Carla Andreia Esteves Fernandes, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal

Resident of Pediatrics, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.

Ana Francisca Henriques Cardoso, Centro Hospitalar de Leiria (CHL), Leiria, Portugal.

Resident of Pediatrics, Centro Hospitalar de Leiria (CHL), Leiria, Portugal.

Caroline Reis Lopes, Centro Hospitalar de Leiria (CHL), Leiria, Portugal.

Resident of Pediatrics, Centro Hospitalar de Leiria (CHL), Leiria, Portugal.

Margarida Maria Videira Henriques, Centro Hospitalar de Leiria (CHL), Leiria, Portugal.

Graduated Hospitalar Assistant of Pediatrics, Centro Hospitalar de Leiria (CHL), Leiria, Portugal

Ester Preciosa Maio Nunes Pereira, Centro Hospitalar de Leiria (CHL), Leiria, Portugal.

Hospitalar Assistant of Pediatrics, Centro Hospitalar de Leiria (CHL), Leiria, Portugal.


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How to Cite
Fernandes, C. A. E., Cardoso, A. F. H., Lopes, C. R., Henriques, M. M. V., & Pereira, E. P. M. N. (2021). Etiological investigation of genetic cause in autism spectrum disorder. Scientia Medica, 31(1), e39581.
Original Articles