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

2024-04-30Clinical study Open access
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datacite.subject.fosCiências Médicas
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.editorMDPI
dc.date.accessioned2025-04-02T12:23:15Z
dc.date.available2025-04-02T12:23:15Z
dc.date.issued2024-04-30
dc.description(This article belongs to the Special Issue Investigating Molecular Footprint in Autism Spectrum Disorders: The Role of Genetics, Epigenetics and Neuroimaging in the Field)
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.por
dc.description.sponsorshipThis research was supported by Fundação para a Ciência e a Tecnologia through the fundings: UIDB/04046/2020 (DOI:10.54499/UIDB/04046/2020) and UIDP/04046/2020 (DOI:10.54499/UIDP/04046/2020) Center grants from FCT, Portugal (to BioISI), PAC-POCI-01-0145-FEDER-016428 MEDPERSYST, Gene-environment interactions in Autism Spectrum Disorder (Grant PTDC/MED-OUT/28937/2017), and the National Institute of Health Doutor Ricardo Jorge. J.V., A.R.M. and J.X.S. are recipients of a fellowship from the BioSys PhD program PD65-2012 (J.V. Ref: PD/BD/131390/2017; A.R.M. Ref: PD/BD/113773/2015; and J.X.S. Ref: PD/BD/114386/2016) from Fundação para a Ciência e a Tecnologia (Portugal).
dc.identifier.citationInt J Mol Sci . 2024 Apr 30;25(9):4938. doi: 10.3390/ijms25094938. Review
dc.identifier.doi10.3390/ijms25094938
dc.identifier.issn1661-6596
dc.identifier.pmid38732157
dc.identifier.urihttp://hdl.handle.net/10400.18/10464
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relationBiosystems and Integrative Sciences Institute
dc.relation.hasversionhttps://www.mdpi.com/1422-0067/25/9/4938
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.subjectPerturbações do Desenvolvimento Infantil e Saúde Mental
dc.titleBridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder - A Systematic Reviewpor
dc.typeclinical study
dspace.entity.typePublication
oaire.awardTitleBiosystems and Integrative Sciences Institute
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04046%2F2020/PT
oaire.citation.issue9
oaire.citation.startPage4938
oaire.citation.titleInternational Journal of Molecular Sciences
oaire.citation.volume25
oaire.fundingStream6817 - DCRRNI ID
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
relation.isProjectOfPublicationdc433369-36fd-4935-bd52-c56aa49c72e1
relation.isProjectOfPublication.latestForDiscoverydc433369-36fd-4935-bd52-c56aa49c72e1

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