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Investigating Molecular Footprint in Autism Spectrum Disorders: The Role of Genetics, Epigenetics and Neuroimaging in the Field

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 31 May 2024 | Viewed by 1111

Special Issue Editors


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Guest Editor
Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128 Pisa, Italy
Interests: autism spectrum disorders; neurodevelopmental disorders; molecular underpinning; epigenetic, genetic, and advanced neuroimaging; brain function; brain structure
Department of Human and Social Sciences, Salento University, Via di Valesio 24, 73100 Lecce, Italy
Interests: ASD; ADHD; ADOS 2; autistic-like symptoms

Special Issue Information

Dear Colleagues,

Autism spectrum disorders are a group of conditions among neurodevelopmental disorders characterized by sociocommunicative impairment together with repetitive behaviors. Recent estimates report a prevalence of 1/36, suggesting the disorder is a major public health issue. The development of an autistic brain is a highly complex process, which reflects high heterogeneity, as evident from the involvement of various genetic and non-genetic factors which are reflected either in phenotypic expression or neural underpinnings. Indeed, a hallmark of heterogeneity in autism is its multilevel presentation, applicable from genotype through phenotype, throughout development, and manifesting as important clinical differentiation, such as outcome or response to treatment. Evidence from genetic and epigenetic studies is providing the molecular link to neural organization, which is being investigated thanks to the increasing availability of advanced neuroimaging studies, either structural or functional.

We welcome authors to submit original research and review articles contributing to a better understand the following, or related, topics: i) the application of advanced neuroimaging (either structural or functional) techniques in autism spectrum disorders, focused either on neural underpinnings or brain plasticity related to treatment outcome/monitoring; ii) genetic studies in the field of autism; and iii) epigenetics studies in the field of autism.

Dr. Eugenia Conti
Dr. Marco Turi
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • autism spectrum disorders
  • neurodevelopmental disorders
  • molecular underpinnings
  • epigenetic, genetic, and advanced neuroimaging
  • brain function
  • brain structure

Published Papers (1 paper)

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Review

13 pages, 1052 KiB  
Review
Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder—A Systematic Review
by Joana Vilela, Célia Rasga, João Xavier Santos, Hugo Martiniano, Ana Rita Marques, Guiomar Oliveira and Astrid Moura Vicente
Int. J. Mol. Sci. 2024, 25(9), 4938; https://doi.org/10.3390/ijms25094938 - 30 Apr 2024
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Abstract
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 [...] Read more.
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. Full article
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