Special Issue "A Personalized Medicine Approach to the Diagnosis and Management of Autism Spectrum Disorder: Beyond Genetic Syndromes"

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: 10 November 2023 | Viewed by 4274

Special Issue Editors

1. Rossignol Medical Center, Phoenix, AZ 85050, USA
2. Southwest Autism Research and Resource Center, Phoenix, AZ 85006, USA
3. Autism Discovery and Treatment Foundation, Phoenix, AZ 85050, USA
Interests: neurodevelopment disorders; metabolic disorders; autism; mitochondrial disorders; folate metabolism; redox metabolism
Special Issues, Collections and Topics in MDPI journals
Mitochondrial and Molecular Medicine, 630 S Raymond Ave, Unit 310, Pasadena, CA 91105, USA
Interests: mitochondrial medicine; functional disease (including cyclic vomiting syndrome, other atypical forms of migraine, and chronic fatigue syndrome); autism spectrum disorders
Special Issues, Collections and Topics in MDPI journals
Rossignol Medical Center, Irvine, CA, USA
Interests: autism spectrum disorders; cerebral palsy; neurological and developmental disorders; PANS/PANDAS; ADD/ADHD; pediatric special needs
Special Issues, Collections and Topics in MDPI journals
Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children’s Research Institute, Little Rock, AR, USA
Interests: oxidative stress; mitochondrial abnormalities; autism spectrum disorders (ASD)
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Background: Autism spectrum disorder (ASD) now affects more than 2% of children, and its prevalence continues to grow. Currently, there is no curative treatment and current therapies provide suboptimal habilitation in many individuals that are affected, leading to a new framing of ASD as a lifelong disorder for many rather than simply a disorder isolated to childhood. The significant heterogeneity of ASD has made the development of diagnosis tools and treatments challenging. A majority of research on ASD concentrates on identifying the genetic syndrome, but there is a new understanding that the etiology of ASD is very complex and probably driven by genetic variations and vulnerabilities interacting with environmental exposures and triggers. Our two previous Special Issues have provided insight into applying personalized medicine to improve the diagnosis and detection of pathophysiological processes and predict treatment response in individuals with ASD. See: (https://www.mdpi.com/journal/jpm/special_issues/Personalized_Medicine_Approach_ASD and https://www.mdpi.com/journal/jpm/special_issues/asd_personalized).

Aim and scope: Our goal is to continue to publish high-impact articles describing a personalized medicine approach for the diagnosis, classification, and treatment of ASD. This year, we wish to focus on the emerging understanding of the role of environmental factors, their contribution to genetic variants and vulnerabilities, and their interaction with the environment.

History: ASD is a difficult disorder to diagnose and treat, both because its diagnosis is traditionally not based on objective biomarkers and because there are numerous underlying pathophysiological processes which may be difficult to detect. Treatment response is extremely variable, and biomarkers used to predict response are limited. Thus, a personalized medicine approach could greatly benefit this population. There is emerging evidence that the environment and genetic variants play an important role in the development of ASD.

Cutting-edge research: We encourage any submissions describing genetic, epigenetic, physiologic, metabolic, immunological, microbiome, behavior, educational, and societal factors that are involved in the etiology, diagnosis, management, and treatment of ASD.

What kind of papers we are soliciting: We encourage the submission of manuscripts that describe a personalized medicine approach for the diagnosis, classification, and treatment of ASD, particularly those that describe the influence of environmental factors and/or genetic variants.

Prof. Dr. Richard E. Frye
Dr. Richard G. Boles
Dr. Daniel Rossignol
Dr. Shannon Rose
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. Journal of Personalized Medicine 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 2600 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 spectrum disorder
  • genetic syndromes
  • autonomic dysfunction
  • autoimmunity
  • epigenetic
  • folate/B12 metabolism
  • gene expression
  • genetics
  • immunology
  • metabolomics
  • methylation
  • microRNA
  • mitochondrial dysfunction
  • neurophysiology
  • quantitative behavior
  • redox metabolism/oxidative stress
  • inflammation
  • seizures

Published Papers (4 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Editorial

Jump to: Research

Editorial
Synchrony 2022: The Role of Neuroinflammation in Behavioral Exacerbations in Autism Spectrum Disorder
J. Pers. Med. 2023, 13(7), 1133; https://doi.org/10.3390/jpm13071133 - 13 Jul 2023
Viewed by 985
Abstract
The BRAIN Foundation (Pleasanton, CA) hosted Synchrony 2022, a medical conference focusing on research for treatments to benefit individuals with neurodevelopmental disorders (NDD), including those with autism spectrum disorders (ASD) [...] Full article
Editorial
Synchrony 2022: Roundtable Discussion on the Pathways and the Challenges of Getting Medications FDA Approved
J. Pers. Med. 2023, 13(5), 779; https://doi.org/10.3390/jpm13050779 - 30 Apr 2023
Viewed by 595
Abstract
The BRAIN Foundation (Pleasanton, CA, USA) hosted a medicine conference, Synchrony 2022, for research into treatments to benefit individuals with neurodevelopmental disorders (NDDs), including autism spectrum disorders (ASD) [...] Full article
Editorial
Synchrony 2022: Catalyzing Research and Treatments to Benefit Individuals with Neurodevelopmental Disorders including Autism Spectrum Disorders
J. Pers. Med. 2023, 13(3), 490; https://doi.org/10.3390/jpm13030490 - 09 Mar 2023
Viewed by 1767
Abstract
A unique translational medicine conference for research into treatments that can benefit individuals with neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD), has been developed and hosted by The BRAIN Foundation (Pleasanton, CA, USA) since 2019 [...] Full article

Research

Jump to: Editorial

Article
microRNA as a Maternal Marker for Prenatal Stress-Associated ASD, Evidence from a Murine Model
J. Pers. Med. 2023, 13(9), 1412; https://doi.org/10.3390/jpm13091412 - 20 Sep 2023
Viewed by 281
Abstract
Autism Spectrum Disorder (ASD) has been associated with a complex interplay between genetic and environmental factors. Prenatal stress exposure has been identified as a possible risk factor, although most stress-exposed pregnancies do not result in ASD. The serotonin transporter (SERT) gene has been [...] Read more.
Autism Spectrum Disorder (ASD) has been associated with a complex interplay between genetic and environmental factors. Prenatal stress exposure has been identified as a possible risk factor, although most stress-exposed pregnancies do not result in ASD. The serotonin transporter (SERT) gene has been linked to stress reactivity, and the presence of the SERT short (S)-allele has been shown to mediate the association between maternal stress exposure and ASD. In a mouse model, we investigated the effects of prenatal stress exposure and maternal SERT genotype on offspring behavior and explored its association with maternal microRNA (miRNA) expression during pregnancy. Pregnant female mice were divided into four groups based on genotype (wildtype or SERT heterozygous knockout (Sert-het)) and the presence or absence of chronic variable stress (CVS) during pregnancy. Offspring behavior was assessed at 60 days old (PD60) using the three-chamber test, open field test, elevated plus-maze test, and marble-burying test. We found that the social preference index (SPI) of SERT-het/stress offspring was significantly lower than that of wildtype control offspring, indicating a reduced preference for social interaction on social approach, specifically for males. SERT-het/stress offspring also showed significantly more frequent grooming behavior compared to wildtype controls, specifically for males, suggesting elevated repetitive behavior. We profiled miRNA expression in maternal blood samples collected at embryonic day 21 (E21) and identified three miRNAs (mmu-miR-7684-3p, mmu-miR-5622-3p, mmu-miR-6900-3p) that were differentially expressed in the SERT-het/stress group compared to all other groups. These findings suggest that maternal SERT genotype and prenatal stress exposure interact to influence offspring behavior, and that maternal miRNA expression late in pregnancy may serve as a potential marker of a particular subtype of ASD pathogenesis. Full article
Show Figures

Figure 1

Back to TopTop