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Bridging genetic insights with neuroimaging in Autism Spectrum Disorder — A systematic review

2024-04-30Journal article Open access
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datacite.subject.fosCiências Sociais::Psicologia
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorVilela, Joana
dc.contributor.authorRasga, Célia
dc.contributor.authorSantos, João Xavier
dc.contributor.authorMartiniano, Hugo
dc.contributor.authorMarques, Ana Rita
dc.contributor.authorOliveira, Guiomar
dc.contributor.authorVicente, Astrid Moura
dc.contributor.authorMaria Rasga, Célia
dc.date.accessioned2025-11-20T14:40:31Z
dc.date.available2025-11-20T14:40:31Z
dc.date.issued2024-04-30
dc.description.abstractAutism 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.eng
dc.description.sponsorshipFundação para a Ciência e Tecnologia - FCT
dc.identifier.citationVilela, J., Rasga, C., Santos, J. X., Martiniano, H., Marques, A. R., Vicente, A. M., & Oliveira, G. (2024). Bridging genetic Insights with neuroimaging in Autism Spectrum Disorder—A systematic review. International Journal of Molecular Sciences, 25(9). https://doi.org/10.3390/ijms25094938
dc.identifier.doi10.3390/ijms25094938
dc.identifier.issn1422-0067
dc.identifier.urihttp://hdl.handle.net/10400.12/13664
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI AG
dc.relationUIDB/04046/2020
dc.relationUIDP/04046/2020
dc.relation.ispartofInternational Journal of Molecular Sciences
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectautism spectrum disorder
dc.subjectneuroimaging
dc.subjectneurogenetics
dc.subjectbrain imaging
dc.subjectelectroencephalography
dc.subjectmagnetic resonance imaging
dc.subjectfunctional magnetic resonance imaging
dc.subjectsystematic review
dc.titleBridging genetic insights with neuroimaging in Autism Spectrum Disorder — A systematic revieweng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue9
oaire.citation.titleInternational Journal of Molecular Sciences
oaire.citation.volume25
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameMaria Rasga
person.givenNameCélia
person.identifier.ciencia-idA212-A40C-4A5D
person.identifier.orcid0000-0002-9969-6241
relation.isAuthorOfPublication6e25ea69-ae28-4926-b81f-54f34151d71b
relation.isAuthorOfPublication.latestForDiscovery6e25ea69-ae28-4926-b81f-54f34151d71b

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