Investigação etiológica de causa genética na perturbação do espetro do autismo

Autores

DOI:

https://doi.org/10.15448/1980-6108.2021.1.39581

Palavras-chave:

Transtorno do Espetro Autista, Distúrbios do Neurodesenvolvimento, Testes genéticos

Resumo

OBJETIVOS: Os objetivos deste estudo foram caracterizar a investigação etiológica de causa genética na perturbação do espetro do autismo e determinar os fatores que se relacionam com a sua identificação.
MÉTODOS: Um estudo retrospetivo descritivo, com componente analítica, incluiu crianças e adolescentes com perturbação do espetro de autismo seguidos em consulta num hospital nível 2 entre novembro de 2017 e outubro de 2019. As seguintes variáveis foram analisadas: idade, sexo, idade na primeira consulta, antecedentes familiares, exame objetivo, avaliação cognitiva, investigação etiológica de causa genética e diagnóstico etiológico de causa genética. A análise estatística foi realizada utilizando o programa SPSS®v23 (nível de significância 0,05).
RESULTADOS: Identificámos 153 crianças com perturbação do espetro de autismo, das quais 48 realizaram investigação etiológica de causa genética: 45 realizaram microarray (alterações patogénicas 15,6%); 42 realizaram estudo molecular da síndrome X-Frágil (um alterado); dois realizaram sequenciação do gene MECP2 (um alterado). O diagnóstico de causa genética foi feito em 18,8% da amostra. A identificação de etiologia de causa genética relacionou-se com défice intelectual/atraso global do desenvolvimento psicomotor (p=0,04) e com a presença de antecedentes familiares relevantes (p=0,005).
CONCLUSÕES: A rentabilidade diagnóstica do estudo genético foi superior em doentes com atraso global do desenvolvimento psicomotor/défice intelectual associado e com antecedentes familiares relevantes.

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Biografia do Autor

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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Publicado

2021-05-27

Como Citar

Fernandes, C. A. E., Cardoso, A. F. H., Lopes, C. R., Henriques, M. M. V., & Pereira, E. P. M. N. (2021). Investigação etiológica de causa genética na perturbação do espetro do autismo. Scientia Medica, 31(1), e39581. https://doi.org/10.15448/1980-6108.2021.1.39581

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