{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T15:00:24Z","timestamp":1766847624243,"version":"build-2065373602"},"reference-count":66,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T00:00:00Z","timestamp":1714435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","award":["UIDB\/04046\/2020","UIDP\/04046\/2020","PTDC\/MED-OUT\/28937\/2017","PD65-2012"],"award-info":[{"award-number":["UIDB\/04046\/2020","UIDP\/04046\/2020","PTDC\/MED-OUT\/28937\/2017","PD65-2012"]}]},{"name":"FCT, Portugal (to BioISI), PAC-POCI-01-0145-FEDER-016428 MEDPERSYST, Gene-environment interactions in Autism Spectrum Disorder","award":["UIDB\/04046\/2020","UIDP\/04046\/2020","PTDC\/MED-OUT\/28937\/2017","PD65-2012"],"award-info":[{"award-number":["UIDB\/04046\/2020","UIDP\/04046\/2020","PTDC\/MED-OUT\/28937\/2017","PD65-2012"]}]},{"name":"National Institute of Health Doutor Ricardo Jorge","award":["UIDB\/04046\/2020","UIDP\/04046\/2020","PTDC\/MED-OUT\/28937\/2017","PD65-2012"],"award-info":[{"award-number":["UIDB\/04046\/2020","UIDP\/04046\/2020","PTDC\/MED-OUT\/28937\/2017","PD65-2012"]}]},{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia (Portugal)","award":["UIDB\/04046\/2020","UIDP\/04046\/2020","PTDC\/MED-OUT\/28937\/2017","PD65-2012"],"award-info":[{"award-number":["UIDB\/04046\/2020","UIDP\/04046\/2020","PTDC\/MED-OUT\/28937\/2017","PD65-2012"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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\u2013inhibition imbalances and to anomalies in brain volumes.<\/jats:p>","DOI":"10.3390\/ijms25094938","type":"journal-article","created":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T03:30:49Z","timestamp":1714534249000},"page":"4938","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder\u2014A Systematic Review"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2465-5795","authenticated-orcid":false,"given":"Joana","family":"Vilela","sequence":"first","affiliation":[{"name":"Departamento de Promo\u00e7\u00e3o da Sa\u00fade e Doen\u00e7as N\u00e3o Transmiss\u00edveis, Instituto Nacional de Sa\u00fade Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal"},{"name":"BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal"}]},{"given":"C\u00e9lia","family":"Rasga","sequence":"additional","affiliation":[{"name":"Departamento de Promo\u00e7\u00e3o da Sa\u00fade e Doen\u00e7as N\u00e3o Transmiss\u00edveis, Instituto Nacional de Sa\u00fade Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal"},{"name":"BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2797-5513","authenticated-orcid":false,"given":"Jo\u00e3o Xavier","family":"Santos","sequence":"additional","affiliation":[{"name":"Departamento de Promo\u00e7\u00e3o da Sa\u00fade e Doen\u00e7as N\u00e3o Transmiss\u00edveis, Instituto Nacional de Sa\u00fade Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal"},{"name":"BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2490-8913","authenticated-orcid":false,"given":"Hugo","family":"Martiniano","sequence":"additional","affiliation":[{"name":"Departamento de Promo\u00e7\u00e3o da Sa\u00fade e Doen\u00e7as N\u00e3o Transmiss\u00edveis, Instituto Nacional de Sa\u00fade Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal"},{"name":"BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4144-7020","authenticated-orcid":false,"given":"Ana Rita","family":"Marques","sequence":"additional","affiliation":[{"name":"Departamento de Promo\u00e7\u00e3o da Sa\u00fade e Doen\u00e7as N\u00e3o Transmiss\u00edveis, Instituto Nacional de Sa\u00fade Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal"},{"name":"BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal"}]},{"given":"Guiomar","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Unidade de Neurodesenvolvimento e Autismo, Servi\u00e7o do Centro de Desenvolvimento da Crian\u00e7a, Centro de Investiga\u00e7\u00e3o e Forma\u00e7\u00e3o Cl\u00ednica, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra (CHUC), 3000-602 Coimbra, Portugal"},{"name":"Coimbra Institute for Biomedical Imaging and Translational Research, University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-602 Coimbra, Portugal"}]},{"given":"Astrid Moura","family":"Vicente","sequence":"additional","affiliation":[{"name":"Departamento de Promo\u00e7\u00e3o da Sa\u00fade e Doen\u00e7as N\u00e3o Transmiss\u00edveis, Instituto Nacional de Sa\u00fade Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal"},{"name":"BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association (2013). 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