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Volume 25
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Review

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

by
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 and
Astrid Moura Vicente
1,2,*
1
Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal
2
BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal
3
Unidade de Neurodesenvolvimento e Autismo, Serviço do Centro de Desenvolvimento da Criança, Centro de Investigação e Formação Clínica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-602 Coimbra, Portugal
4
Coimbra Institute for Biomedical Imaging and Translational Research, University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-602 Coimbra, Portugal
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2024, 25(9), 4938; https://doi.org/10.3390/ijms25094938
Submission received: 29 February 2024 / Revised: 22 April 2024 / Accepted: 25 April 2024 / Published: 30 April 2024
(This article belongs to the Special Issue Investigating Molecular Footprint in Autism Spectrum Disorders: The Role of Genetics, Epigenetics and Neuroimaging in the Field)
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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; neuroimaging; neurogenetics; brain imaging; electroencephalography; magnetic resonance imaging; functional magnetic resonance imaging; systematic review autism spectrum disorder; neuroimaging; neurogenetics; brain imaging; electroencephalography; magnetic resonance imaging; functional magnetic resonance imaging; systematic review

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MDPI and ACS Style

Vilela, J.; Rasga, C.; Santos, J.X.; Martiniano, H.; Marques, A.R.; Oliveira, G.; Vicente, A.M. Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder—A Systematic Review. Int. J. Mol. Sci. 2024, 25, 4938. https://doi.org/10.3390/ijms25094938

AMA Style

Vilela J, Rasga C, Santos JX, Martiniano H, Marques AR, Oliveira G, Vicente AM. Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder—A Systematic Review. International Journal of Molecular Sciences. 2024; 25(9):4938. https://doi.org/10.3390/ijms25094938

Chicago/Turabian Style

Vilela, Joana, Célia Rasga, João Xavier Santos, Hugo Martiniano, Ana Rita Marques, Guiomar Oliveira, and Astrid Moura Vicente. 2024. "Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder—A Systematic Review" International Journal of Molecular Sciences 25, no. 9: 4938. https://doi.org/10.3390/ijms25094938

APA Style

Vilela, J., Rasga, C., Santos, J. X., Martiniano, H., Marques, A. R., Oliveira, G., & Vicente, A. M. (2024). Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder—A Systematic Review. International Journal of Molecular Sciences, 25(9), 4938. https://doi.org/10.3390/ijms25094938

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