18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho




Autism Spectrum Disorder (ASD) is one of the most common neurodevelopmental disorders in children, characterized by social disorders, communication deficits and restrictive and repetitive behavior patterns. Its etiology constitutes a heterogeneous pattern of genotypes, with the influence of environmental factors. Thus, knowledge of the different genetic bases and existing subgroups allows mapping the broad behavioral phenotypes, predicting their consequences and choosing the appropriate therapeutic conduct.


To evaluate the relationship between the genetics of autism and its clinical manifestations and therapeutic approaches.


This is an integrative literature review, descriptive and qualitative. The descriptors that were used are: (Autism) and (genetic) or (genetic based), in the Scielo and Pubmed databases. Articles in English and Spanish were included, from the period 2015 to 2022. Incomplete or paid articles were excluded.

Resultados e Conclusões

Autism causes complex changes in synaptic organizations and neuronal connectivity, with different pathways affected, due to a collection of genetic risk factors, which may be associated with risky environmental exposures, being divided into Primary (idiopathic origin) and Secondary (syndromic origin). As for the diseases associated with autism of syndromic origin, they can be: Rett syndrome, fragile X, Angelman, Tourette, Down, Phelan-McDermid, Prader-Willi, Cohen, Timothy, Smith-Lemli-Opitz and Cornelia de Lange. These have symptoms that overlap with those of Autism, such as delayed social and language development and stereotyped behaviors. As for Primary Autism, research indicates that the main genes involved are: MET, SLC6A4, RELN, PTEN, TSC1, TSC2, NLGN, NRXN, MECP2, UBE3A, HANK, FMR1, CHD8, DYRK1A, ADNP, ANK, SCN2A, TBR1, DYRK1A, SYNGAP1, SERBP1, BOLA2, STXBP1, CDLK56, which are linked to synaptogenesis and manifest changes in serotonergic, GABAergic, and related catecholaminergic and cholinergic systems.
Thus, Autism is a multifactorial genetic disease, in which the phenotypes do not arise from the same mutation. The clinical spectrum of each patient depends on altered genetics and specific brain events, with loss of synapses and neuronal connections. Therefore, knowledge of the mechanisms involved is essential to establish preventive measures and the mapping of early markers, in addition to personalized treatments, enabling family counseling and consistent prognosis for the specific condition.

Palavras Chave

Autism, ASD, Genetics.

Declaração de conflito de interesses de TODOS os autores

There is no conflict of interests

Fonte de Fomento (se houver)

Referências (se houver)

Al-Dewik NI. Risk factors diagnosis prognosis and treatment of autism. Frontiers in Bioscience. 2020;25(9):1682–717.

Arberas C, Ruggieri V. ARTÍCULO ESPECIAL AUTISMO. ASPECTOS GENÉTICOS Y BIOLÓGICOS [Internet]. Available from: https://www.medicinabuenosaires.com/PMID/30776274.pdf

Sanabria-Barradas B, Gallardo-Beatriz LS, Palma-Jacinto JA, Calderón-Garcidueñas AL. The pathogenesis of autism spectrum disorder. Revista Mexicana de Neurociencia. 2021 Nov 24;22(6).

Gonçalves D, Guardiano M, Leão M. Etiological Investigation of Autism Spectrum Disorders: State of The Art. Nascer e Crescer [Internet]. 2018 Sep 1 [cited 2023 May 25];27(3):176–81. Available from: http://www.scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000300005&lang=pt

Balbuena R F. Etiología del autismo: el continuo idiopático-sindrómico como tentativa explicativa. Revista chilena de neuro-psiquiatría. 2015 Dec;53(4):269–76.

Hernández OC, Otero DL, Rodríguez NC. Autismo: un acercamiento hacia el diagnóstico y la genética. Revista de Ciencias Médicas de Pinar del Río [Internet]. 2015 Feb 28 [cited 2023 May 25];19(1):157–78. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/1938/html_52

Oviedo N, Manuel-Apolinar L, de la Chesnaye E, Guerra-Araiza C. Aspectos genéticos y neuroendocrinos en el trastorno del espectro autista. Boletín médico del Hospital Infantil de México [Internet]. 2015 Feb 1 [cited 2020 Apr 3];72(1):5–14. Available from: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1665-11462015000100004

Thapar A, Rutter M. Genetic Advances in Autism. Journal of Autism and Developmental Disorders. 2020 Sep 17;51.

Steinman G. Chapter One - The putative etiology and prevention of autism [Internet]. Ilieva M, Lau WKW, editors. Vol. 173, ScienceDirect. Academic Press; 2020 [cited 2023 May 25]. p. 1–34. Available from: https://www.sciencedirect.com/science/article/pii/S1877117320300570?via%3Dihub#s0040


Transtornos neuropsiquiátricos e distúrbios de aprendizagem


Liga Acadêmica de Neurologia e Neurocirurgia (LANNEP) - Pará - Brasil, Universidade do Estado do Pará (UEPA) - Pará - Brasil