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. 2024 Apr 30;25(9):4938.
doi: 10.3390/ijms25094938.

Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review

Joana Vilela  1   2 , Célia Rasga  1   2 , João Xavier Santos  1   2 , Hugo Martiniano  1   2 , Ana Rita Marques  1   2 , Guiomar Oliveira  3   4 , Astrid Moura Vicente  1   2
Affiliations

Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review

Joana Vilela et al. Int J Mol Sci. .

Abstract

Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques that study alterations in brain structure and function. Combined with genetic analysis, these techniques have the potential to help in the clarification of the neurobiological mechanisms contributing to ASD and help in defining novel therapeutic targets. To further understand what is known today regarding the impact of genetic variants in the brain alterations observed in individuals with ASD, a systematic review was carried out using Pubmed and EBSCO databases and following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. This review shows that specific genetic variants and altered patterns of gene expression in individuals with ASD may have an effect on brain circuits associated with face processing and social cognition, and contribute to excitation-inhibition imbalances and to anomalies in brain volumes.

Keywords: autism spectrum disorder; brain imaging; electroencephalography; functional magnetic resonance imaging; magnetic resonance imaging; neurogenetics; neuroimaging; systematic review.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) flowchart describing the papers selection process.
Figure 2
Figure 2
Overview of the systematic review. EEG: electroencephalography; MRI: magnetic resonance imaging; fMRI: functional magnetic resonance imaging; GABA: gamma-aminobutyric acid.
See this image and copyright information in PMC

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