Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
4.8
2.7
Journals
Brain Sciences
Special Issues
Unraveling Autism: Neurobiological Mechanisms and Emerging Therapeutic Advances
share announcement

Unraveling Autism: Neurobiological Mechanisms and Emerging Therapeutic Advances

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Developmental Neuroscience".

Deadline for manuscript submissions: 25 March 2025 | Viewed by 126

Special Issue Editors

Dr. Antonio Nicotera

E-Mail Website
Guest Editor
Department of Human Pathology of the Adult and Developmental Age, University of Messina, 98122 Messina, Italy
Interests: autism; neurology; pediatric neurology; epilepsy
Dr. Gabriella Di Rosa

E-Mail Website
Guest Editor
Department of Human and Pediatric Pathology “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, 98122 Messina, Italy
Interests: prematurity and neurodevelopmental trajectories; epileptic encephalopathies; paroxysmal nonepileptic disorders in childhood; migraine; neurometabolic diseases; Rett and Rett-like syndrome
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Autism spectrum disorder (ASD) is a complex condition characterized by a diverse range of symptoms, rooted in neurodevelopmental anomalies that affect brain function and behavior. Recent research has shed light on the genetic, molecular, and cellular processes contributing to ASD, providing deeper insights into its etiology. Concurrently, novel therapeutic strategies, including targeted pharmacological treatments, behavioral interventions, and neurostimulation techniques, are being developed to address the specific needs of individuals with ASD. These interventions aim not only to reduce symptoms but also to optimize daily functioning and overall well-being for individuals affected by the condition. This Special Issue delves into the complex neurobiological mechanisms underlying ASD while critically examining the latest therapeutic and pharmacological advancements. Emphasizing the importance of ongoing interdisciplinary research, it aims to bridge the gap between neurobiological insights and clinical applications, ultimately driving the development of more effective and personalized treatment strategies for ASD.

Dr. Antonio Nicotera
Dr. Gabriella Di Rosa
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • autism
  • neurobiology
  • autistic spectrum disorder
  • neurodevelopment
  • genetic

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (1 paper)

Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Other

23 pages, 757 KiB  
Systematic Review
Tetrahydrobiopterin and Autism Spectrum Disorder: A Systematic Review of a Promising Therapeutic Pathway
by Clóvis Colpani Filho, Lucas Melfior, Sthephanie Luiz Ramos, Mateus Santos Oliveira Pizi, Lilian Freitas Taruhn, Margrit Ellis Muller, Thiago Kucera Nunes, Luísa de Oliveira Schmitt, Joana Margarida Gaspar, Miguel de Abreu de Oliveira, Giovanna Tassinari, Luisa Cruz and Alexandra Latini
Brain Sci. 2025, 15(2), 151; https://doi.org/10.3390/brainsci15020151 - 3 Feb 2025
Viewed by 114
Abstract
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent deficits in social communication and interaction, along with restricted and repetitive patterns of behavior, interests, or activities. ASD encompasses a wide spectrum of clinical presentations and functional impairments, ranging from mild to [...] Read more.
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent deficits in social communication and interaction, along with restricted and repetitive patterns of behavior, interests, or activities. ASD encompasses a wide spectrum of clinical presentations and functional impairments, ranging from mild to severe. Despite its prevalence, the underlying physiopathological mechanisms of ASD remain largely unknown, resulting in a lack of effective targeted therapeutic interventions, contributing to significant financial and emotional burdens on affected families and the healthcare system. Emerging evidence suggests that dysfunction in the tetrahydrobiopterin (BH4) pathway may impair the activity of monoaminergic and nitric oxide (NO)-dependent neurons in individuals with ASD. To explore this potential mechanism, we conducted a systematic review to analyze such impairments to gather information on whether the off-label use of BH4 could represent a novel pharmacological approach for managing ASD. Following the PRISMA 2020 guidelines, we systematically reviewed the literature from four databases: PubMed, Virtual Health Library, Cochrane Library, and SciELO, from January 1967 to December 2021. The quality of the included studies was assessed using the Newcastle–Ottawa scale. The inclusion criteria for this systematic review focused on identifying articles published in English that contained the following keywords, used in various combinations: autism, ASD, autism spectrum disorder, BH4, tetrahydrobiopterin, neopterin, NO, nitric oxide. The analysis was performed between December 2020 and December 2021. The collected data demonstrated that BH4 metabolism was altered in individuals with ASD. Lower levels of BH4 were reported in biological samples from ASD-affected individuals compared to age- and sex-matched controls. Additionally, neopterin levels were elevated in plasma and urine, but decreased in cerebrospinal fluid, while nitric oxide levels were consistently reported to be higher across studies. Treatment with BH4 has shown potential in improving ASD-related symptoms. The reported increase in neopterin in biological fluids indicates inflammation, while the reduction in BH4 levels suggests a potential shift in its metabolic role. Specifically, BH4 may be diverted from its primary role in neurotransmitter synthesis to function as an antioxidant or to perpetuate inflammation through NO production. Given that BH4 is a critical cofactor in monoaminergic neurotransmission, its dysfunction highlights the molecule's therapeutic potential. BH4, already FDA-approved for other conditions, emerges as a promising off-label candidate to alleviate ASD symptomatology. Full article
(This article belongs to the Special Issue Unraveling Autism: Neurobiological Mechanisms and Emerging Therapeutic Advances)
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-1
Back to TopTop