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Autism Spectrum Disorder and Epilepsy
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Autism Spectrum Disorder and Epilepsy

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: closed (10 October 2024) | Viewed by 11799

Special Issue Editors

Prof. Dr. Richard E. Frye

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Guest Editor
1. Department of Child Health, College of Medicine—Phoenix, University of Arizona, Phoenix, AZ 85004, USA
2. Section on Neurodevelopmental Disorders, Barrow Neurological Institute, Phoenix Children’s Hospital, Phoenix, AZ 85016, USA
Interests: neurodevelopment disorders; metabolic disorders; autism; mitochondrial disorders; folate metabolism; redox metabolism
Special Issues, Collections and Topics in MDPI journals
Dr. John N. Gaitanis

E-Mail Website
Guest Editor
Child Neurology, Hasbro Children’s Hospital, Brown University, Providence, RI 02903, USA
Interests: pediatric brain malformations; epilepsy; neurology; neurophysiology
Dr. Jeffrey David Lewine

E-Mail Website
Guest Editor
1. Center for Advanced Diagnostics, Evaluation, and Therapeutics, CADET-NM, Albuquerque, NM 87114, USA
2. Translational Neuroscience, Mind Research Network, Albuquerque, NM 87106, USA
3. Department of Neurology, University of New Mexico, Albuquerque, NM 87114, USA
4. Department of Psychology, University of New Mexico, Albuquerque, NM 87114, USA
5. Beyond Barriers Therapeutics, Glendale, IL 60612, USA
Interests: autism spectrum disorders; epilepsy; traumatic brain injury; post-traumatic stress disorder; structural and functional brain imaging and electrophysiology

Special Issue Information

Dear Colleagues,

Background: Autism spectrum disorder (ASD) now affects more than 2% of children, with its prevalence continuing to grow. Epilepsy is one of the most common comorbid conditions associated with ASD, and it results in significant disability in those that it effects. Most significantly, epilepsy is associated with lower overall function and behavioral issues in those with ASD, and it is more difficult to control. Furthermore, it has been found to be a source of significant mortality in individuals with ASD. At present, current therapies provide suboptimal control of seizures, resulting in increased disability. Many of the underlying genetic and metabolic conditions that are associated with ASD can also result in epilepsy, leading to the possibility that a greater understanding of the underlying cause and treatment for epilepsy in those with ASD is possible. Thus, we aim to publish papers in this Special Issue that provide greater insight into epilepsy in ASD in order to provide a more personalized approach to the evaluation and treatment of epilepsy in ASD.

Aim and scope: Our goal is to publish high-impact articles describing a personalized medicine approach to the diagnosis, classification, and treatment of epilepsy in those with ASD. This includes the role of metabolic disorders, environmental factors, and the contribution to genetic variants and vulnerabilities and their interaction with the environment.

History: Individuals with ASD and epilepsy are often inadequately treated as the treatment response is extremely variable and biomarkers used to predict response are limited. Thus, a personalized medicine approach could greatly benefit this population.

Cutting-edge research: We encourage any submissions that improve the understanding of epilepsy in ASD, including the roles of genetic, epigenetic, physiologic, metabolic, immunological, and microbiome factors that are involved in the management and treatment of individuals with ASD and epilepsy.

What types of papers we are soliciting: We encourage the submission of manuscripts describing a personalized medicine approach to the diagnosis, classification, and treatment of individuals with ASD and epilepsy, particularly with respect to factors that will improve treatment outcomes.

Prof. Dr. Richard E. Frye
Dr. John N. Gaitanis
Dr. Jeffrey David Lewine
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
  • epilepsy
  • children
  • genetics
  • epigenetics
  • physiology
  • metabolic disorders
  • immunology
  • microbiome environmental factors
  • biomarkers

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Published Papers (3 papers)

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Editorial

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3 pages, 171 KiB  
Editorial
Synchrony 2022: Epilepsy and Seizures in Autism Spectrum Disorder Roundtable
by Richard E. Frye, Heer Nanda, Samuel J. Pleasure, Manuel F. Casanova, Richard G. Boles, Jeffrey Lewine, John Gaitanis and James B. Adams
J. Pers. Med. 2023, 13(3), 557; https://doi.org/10.3390/jpm13030557 - 20 Mar 2023
Viewed by 2830
Abstract
The BRAIN Foundation (Pleasanton, CA, USA) hosted Synchrony 2022, a translational medicine conference focused on research into treatments for individuals with neurodevelopmental disorders (NDD), including those with autism spectrum disorders (ASD) [...] Full article
(This article belongs to the Special Issue Autism Spectrum Disorder and Epilepsy)

Research

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15 pages, 1483 KiB  
Article
Age-Related Changes in Epilepsy Characteristics and Response to Antiepileptic Treatment in Autism Spectrum Disorders
by Beliz Su Gundogdu, John Gaitanis, James B. Adams, Daniel A. Rossignol and Richard E. Frye
J. Pers. Med. 2023, 13(7), 1167; https://doi.org/10.3390/jpm13071167 - 21 Jul 2023
Cited by 2 | Viewed by 4241
Abstract
Despite the high prevalence of epilepsy in individuals with autism spectrum disorder (ASD), there is little information regarding whether seizure characteristics and treatment effectiveness change across age. Using an online survey, seizure characteristics, effectiveness of antiepileptic treatments, comorbidities, potential etiologies, and ASD diagnosis [...] Read more.
Despite the high prevalence of epilepsy in individuals with autism spectrum disorder (ASD), there is little information regarding whether seizure characteristics and treatment effectiveness change across age. Using an online survey, seizure characteristics, effectiveness of antiepileptic treatments, comorbidities, potential etiologies, and ASD diagnosis were collected from individuals with ASD and seizures. We previously reported overall general patterns of treatment effectiveness but did not examine the effect of seizure characteristics or age on antiepileptic treatment effectiveness. Such information would improve the personalized medicine approach to the treatment of seizures in ASD. Survey data from 570 individuals with ASD and clinical seizures were analyzed. Seizure severity (seizure/week) decreased with age of onset of seizures, plateauing in adolescence, with a greater reduction in generalized tonic–clonic (GTC) seizures with age. Seizure severity was worse in those with genetic disorders, neurodevelopmental regression (NDR) and poor sleep maintenance. Carbamazepine and oxcarbazepine were reported to be more effective when seizures started in later childhood, while surgery and the Atkins/modified Atkins Diet (A/MAD) were reported to be more effective when seizures started early in life. A/MAD and the ketogenic diet were reported to be more effective in those with NDR. Interestingly, atypical Landau–Kleffner syndrome was associated with mitochondrial dysfunction and NDR, suggesting a novel syndrome. These interesting findings need to be verified in independent, prospectively collected cohorts, but nonetheless, these data provide insights into novel relationships that may assist in a better understanding of epilepsy in ASD and provide insight into personalizing epilepsy care in ASD. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder and Epilepsy)
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11 pages, 292 KiB  
Article
Developmental Regression Followed by Epilepsy and Aggression: A New Syndrome in Autism Spectrum Disorder?
by John Gaitanis, Duyu Nie, Tao Hou and Richard Frye
J. Pers. Med. 2023, 13(7), 1049; https://doi.org/10.3390/jpm13071049 - 26 Jun 2023
Cited by 4 | Viewed by 3479
Abstract
Autism spectrum disorder (ASD) with regression (ASD-R) involves the loss of previously attained developmental milestones, typically during the first or second year of life. As children age, it is not uncommon for them to develop comorbid conditions such as aggressive behaviors or epilepsy, [...] Read more.
Autism spectrum disorder (ASD) with regression (ASD-R) involves the loss of previously attained developmental milestones, typically during the first or second year of life. As children age, it is not uncommon for them to develop comorbid conditions such as aggressive behaviors or epilepsy, which can inhibit habilitation in language and social function. In this paper, we hypothesize that aggressive behaviors and epilepsy more commonly develop in patients with ASD-R than in those without a history of regression (ASD-NR). We conducted a retrospective review of non-syndromic patients with ASD over 12 years of age and compared the rates of epilepsy and aggression between ASD-R and ASD-NR patients. Patients with ASD-R, as compared to ASD-NR patients, demonstrated non-significantly higher rates of epilepsy (51.8% vs. 38.1%, p = 0.1335) and aggressive behaviors (73.2% vs. 57.1%, p = 0.0673) when evaluated separately. The rates for combined epilepsy and aggression, however, were statistically significant when comparing ASD-R versus ASD patients (44.5% vs. 23.8%, p = 0.0163). These results suggest that epilepsy with aggression is more common in ASD-R as compared to ASD-NR patients. When considering the impact of epilepsy and aggression on quality of life, these co-morbidities effectively cause a second regression in patients who experienced an earlier regression as toddlers. A larger, prospective trial is recommended to confirm these associations and further define the timeline in which these characteristics develop from early childhood to adolescence. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder and Epilepsy)
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