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

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Resumo: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.
Autores principais:Vilela, Joana
Outros Autores:Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana Rita; Oliveira, Guiomar; Vicente, Astrid Moura; Maria Rasga, Célia
Assunto:autism spectrum disorder neuroimaging neurogenetics brain imaging electroencephalography magnetic resonance imaging functional magnetic resonance imaging systematic review
Ano:2024
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:Ispa-Instituto Universitário
Idioma:inglês
Origem:Repositório do Ispa - Instituto Universitário

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