Management in Autism Spectrum Disorder: From Biomarkers to Precision Medicine

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Mental Health".

Deadline for manuscript submissions: 25 October 2025 | Viewed by 560

Special Issue Editors


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Guest Editor

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Guest Editor Assistant
Unit of Child Neuropsychiatry Department of Medicine, Surgery and Pharmacy, University of Sassari, Sassari, Italy
Interests: neurodevelopmental disorders; immunogenetics; epigenetics of Autism; PANS/PANDAS; child and adolescent psychiatry; child development; adolescent development; developmental psychopathology; autism spectrum disorders; ADHD

Special Issue Information

Dear Colleagues,

This open access Special Issue of the Journal of Clinical Medicine will cover a wide range of topics related to the study of autism spectrum disorders. The high concordance of autism among monozygotic twins has suggested a decisive role for genetic inheritance. The hypothesis of a Mendelian inheritance has, however, proved inadequate in the face of the very rapid and ubiquitous epidemiological increase. Furthermore, the only partial concordance between monozygotic twins and the recurrence between dizygotic twins higher than that between siblings born from distinct pregnancies has shifted attention to the role of the intrauterine environment and the epigenetic factors and mechanisms that influence and modulate the mechanisms of neurodevelopment (neurogenesis, proliferation, migration, and cellular differentiation, synaptogenesis) in the embryo-fetal period. These considerations are in line with the pathogenetic model, according to which the continuous increase in chronic endocrine-metabolic, immuno-inflammatory, degenerative, and tumoral pathologies would be attributable to the reactive-adaptive epigenetic modifications that the embryo and the fetus implement in the face of an environment of continuous and too rapid transformation (fetal programming). From now on, contributions to this Special Issue are welcome, as they will be published on an ongoing basis, and can be submitted directly online by registering at www.mdpi.com.

Prof. Dr. Michele Roccella
Guest Editor

Dr. Alessandra Carta
Guest Editor Assistant

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Keywords

  • autism
  • autism spectrum disorder
  • neurodevelopmental disorders
  • epigenetics of autism
  • genetic inheritance
  • immunogenetics

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Published Papers (1 paper)

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Research

16 pages, 2591 KiB  
Article
Cognitive Brain Networks and Enlarged Perivascular Spaces: Implications for Symptom Severity and Support Needs in Children with Autism
by Stefano Sotgiu, Giuseppe Barisano, Vanna Cavassa, Mariangela Valentina Puci, Maria Alessandra Sotgiu, Angela Nuvoli, Salvatore Masala and Alessandra Carta
J. Clin. Med. 2025, 14(9), 3029; https://doi.org/10.3390/jcm14093029 - 27 Apr 2025
Viewed by 173
Abstract
Background/Objectives: The severity of autism spectrum disorder (ASD) is clinically assessed through a comprehensive evaluation of social communication deficits, restricted interests, repetitive behaviors, and the level of support required (ranging from level 1 to level 3) according to DSM-5 criteria. Along with its [...] Read more.
Background/Objectives: The severity of autism spectrum disorder (ASD) is clinically assessed through a comprehensive evaluation of social communication deficits, restricted interests, repetitive behaviors, and the level of support required (ranging from level 1 to level 3) according to DSM-5 criteria. Along with its varied clinical manifestations, the neuroanatomy of ASD is characterized by heterogeneous abnormalities. Notably, brain MRI of children with ASD often reveals an increased number of perivascular spaces (PVSs) compared to typically developing children. Our recent findings indicate that enlarged PVSs (ePVSs) are more common in younger male patients with severe ASD and that specific ePVS locations are significantly associated with ASD symptoms. Methods: In this study, we mapped ePVSs across key regions of three major cognitive networks—the Default Mode Network (DMN), the combined Central Executive/Frontoparietal Network (CEN/FPN), and the Salience Network (SN)—in 36 individuals with different symptom severities and rehabilitation needs due to ASD. We explored how the number, size, and location of PVSs in these networks are related to specific ASD symptoms and the overall need for rehabilitation and support. Results: Our results suggest that ePVSs in the DMN, CEN/FPN, and SN are strongly correlated with the severity of certain ASD symptoms, including verbal deficits, stereotypies, and sensory disturbances. We found a mild association between ePVSs and the level of support needed for daily living and quality of life. Conclusions: Dysfunction in cognitive networks associated with the presence of ePVSs has a significant impact on the severity of ASD symptoms. However, the need for assistance may also be influenced by other comorbid conditions and dysfunctions in smaller, overlapping brain networks. Full article
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