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Autism Spectrum Disorder01:19

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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review.

Joana Vilela1,2, Célia Rasga1,2, João Xavier Santos1,2

  • 1Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.

International Journal of Molecular Sciences
|May 11, 2024
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Genetic variants in Autism Spectrum Disorder (ASD) impact brain circuits involved in social cognition and may lead to altered brain volumes. Understanding these genetic links is key to clarifying ASD neurobiology.

Keywords:
autism spectrum disorderbrain imagingelectroencephalographyfunctional magnetic resonance imagingmagnetic resonance imagingneurogeneticsneuroimagingsystematic review

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Disorders

Background:

  • Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with significant heritability.
  • The precise etiology of ASD remains unclear despite numerous implicated genes.
  • Brain imaging and EEG are crucial for studying ASD-related brain alterations.

Purpose of the Study:

  • To systematically review the impact of genetic variants on brain alterations in individuals with ASD.
  • To clarify the neurobiological mechanisms underlying ASD.
  • To identify potential novel therapeutic targets for ASD.

Main Methods:

  • Systematic literature review using Pubmed and EBSCO databases.
  • Adherence to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.
  • Integration of genetic analysis with brain imaging and EEG data.

Main Results:

  • Specific genetic variants and altered gene expression patterns are linked to ASD.
  • These genetic factors affect brain circuits crucial for face processing and social cognition.
  • Genetic influences contribute to excitation-inhibition imbalances and abnormal brain volumes in ASD.

Conclusions:

  • Genetic variants play a significant role in the neurobiological underpinnings of ASD.
  • Understanding genetic impacts on brain function and structure is vital for ASD research.
  • This knowledge can inform the development of targeted therapies for Autism Spectrum Disorder.