Autism and its genetic aspects: what does the literature reveal?

*Correspondence: [e-mail].

Abstract

Background: 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.

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

Methods: 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.

Results: 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.

Conclusion: 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.

 

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Publication History

Article published online:
12 May 2025