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Brain Sciences
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From Behavior to Pathology: The Underlying Mechanisms in Children with...
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From Behavior to Pathology: The Underlying Mechanisms in Children with ASD

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

Deadline for manuscript submissions: closed (1 October 2019) | Viewed by 29384

Special Issue Editor

Prof. Dr. Paul Ashwood

E-Mail Website
Guest Editor
Department of Medical Microbiology and Immunology, University of California Davis, Davis, CA 95616, USA
Interests: autism; autism spectrum disorder; immune system; behavior; gut-brain axis

Special Issue Information

Dear Colleagues,

Autism spectrum disorders (ASD) are becoming increasingly common, yet their causes and pathology are poorly understood. Genetic mechanisms as well as environment factors may combine in ASD pathogenesis. A range of significant advancements has been made in ASD research in recent years. Findings emerging from these study areas have started to form a clearer picture in the pathogenesis responsible for ASD. However, to gain further knowledge in ASD it is imperative to define the underlying biology and to dissect the specific cell types, circuits, and intracellular pathways involved. Results from these studies will be essential to discover new targets or mechanisms that can pave the way for the development of novel and promising therapeutic approaches. We would like to invite manuscripts on studies investigating the possible mechanisms that contribute to the development of ASD, including studies on brain structure, functions, immunology, oxidative stress, modifiable risk factors, epidemiology, and molecular biological as well as genetic mechanisms. We also welcome manuscripts on the creation of animal models for ASD studies. We hope this Issue will bring a better understanding of the pathogenesis of ASD at all levels, and thus provide clues to develop early diagnosis and better treatment for ASD.

Prof. Dr. Paul Ashwood
Guest Editor

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.

Published Papers (5 papers)

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Research

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21 pages, 303 KiB  
Article
Behavioral and Neuropsychological Evaluation of Executive Functions in Children with Autism Spectrum Disorder in the Gulf Region
by Rehab H. Alsaedi, Suzanne Carrington and James J. Watters
Brain Sci. 2020, 10(2), 120; https://doi.org/10.3390/brainsci10020120 - 22 Feb 2020
Cited by 14 | Viewed by 5004
Abstract
This study examined the executive functioning abilities and development profiles of children with autism spectrum disorder (ASD). The participants were 119 children with ASD and 30 typically developing children (age range: 6–12 years) who were recruited from three Gulf states. The findings revealed [...] Read more.
This study examined the executive functioning abilities and development profiles of children with autism spectrum disorder (ASD). The participants were 119 children with ASD and 30 typically developing children (age range: 6–12 years) who were recruited from three Gulf states. The findings revealed executive functioning deficits in the ASD population when compared to the normative data or to those children without ASD. However, not all the forms of executive functioning were found to be impaired. Age-related differences in the patterns of performance on the utilized measures of executive functioning were also identified. The overall findings provide valuable information regarding the different components of the executive functions, which may prove useful in relation to the development of assessment protocols for ASD. Full article
(This article belongs to the Special Issue From Behavior to Pathology: The Underlying Mechanisms in Children with ASD)

Review

Jump to: Research, Other

21 pages, 279 KiB  
Review
Efficacy and Safety of Melatonin Treatment in Children with Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder—A Review of the Literature
by Beata Rzepka-Migut and Justyna Paprocka
Brain Sci. 2020, 10(4), 219; https://doi.org/10.3390/brainsci10040219 - 07 Apr 2020
Cited by 29 | Viewed by 9215
Abstract
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders with disturbed melatonin secretion profile and sleep problems. The growing incidence of ASD and ADHD inspires scientists to research the underlying causes of these conditions. The authors focused on two fundamental aspects, [...] Read more.
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders with disturbed melatonin secretion profile and sleep problems. The growing incidence of ASD and ADHD inspires scientists to research the underlying causes of these conditions. The authors focused on two fundamental aspects, the first one being the presentation of the role of melatonin in ASD and ADHD and the second of the influence of melatonin treatment on sleep disorders. The authors present the use of melatonin both in the context of causal and symptomatic treatment and discuss melatonin supplementation: Dosage patterns, effectiveness, and safety. Sleep disorders may have a different clinical picture, so the assessment of exogenous melatonin efficacy should also refer to a specific group of symptoms. The review draws attention to the wide range of doses of melatonin used in supplementation and the need to introduce unified standards especially in the group of pediatric patients. Full article
(This article belongs to the Special Issue From Behavior to Pathology: The Underlying Mechanisms in Children with ASD)
16 pages, 293 KiB  
Review
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models
by Giovanni Schepici, Eugenio Cavalli, Placido Bramanti and Emanuela Mazzon
Brain Sci. 2019, 9(10), 265; https://doi.org/10.3390/brainsci9100265 - 03 Oct 2019
Cited by 24 | Viewed by 4364
Abstract
Autism spectrum disorder (ASD) is a complex neuropsychiatric disorder characterized by deficits in social interactions, communication, language, and in a limited repertoire of activities and interests. The etiology of ASD is very complex. Genetic, epigenetic, and environmental factors contribute to the onset of [...] Read more.
Autism spectrum disorder (ASD) is a complex neuropsychiatric disorder characterized by deficits in social interactions, communication, language, and in a limited repertoire of activities and interests. The etiology of ASD is very complex. Genetic, epigenetic, and environmental factors contribute to the onset of ASD. Researchers have shown that microRNAs (miRNAs) could be one of the possible causes associated with ASD. miRNAs are small noncoding mRNAs that regulate gene expression, and they are often linked to biological processes and implicated in neurodevelopment. This review aims to provide an overview of the animal models and the role of the different miRNAs involved in ASD. Therefore, the use of animal models that reproduce the ASD and the identification of miRNAs could be a useful predictive tool to study this disorder. Full article
(This article belongs to the Special Issue From Behavior to Pathology: The Underlying Mechanisms in Children with ASD)

Other

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8 pages, 596 KiB  
Brief Report
Rapid Communication: Plasma Interleukin-35 in Children with Autism
by Destanie Rose and Paul Ashwood
Brain Sci. 2019, 9(7), 152; https://doi.org/10.3390/brainsci9070152 - 27 Jun 2019
Cited by 7 | Viewed by 3962
Abstract
In autism spectrum disorders (ASD) many individuals have co-morbid immune dysregulation that can lead to inflammation in the brain and periphery. The novel cytokine interleukin (IL)-35 has described anti-inflammatory properties; however, the plasma levels of IL-35 in children with ASD have never been [...] Read more.
In autism spectrum disorders (ASD) many individuals have co-morbid immune dysregulation that can lead to inflammation in the brain and periphery. The novel cytokine interleukin (IL)-35 has described anti-inflammatory properties; however, the plasma levels of IL-35 in children with ASD have never been investigated. The plasma levels of IL-35 were measured by an enzyme-linked immunosorbent assay in 30 children with ASD and 39 typically developing (TD) controls. In the current study, we found that plasma IL-35 levels were significantly decreased in children with ASD compared with TD children. Furthermore, lower IL-35 levels were associated with worse behaviors as assessed using the aberrant behavior checklist. These findings are in line with other observations of decreased regulatory cytokines such as transforming growth factor beta and IL-10 in ASD, and associations with severity of behaviors. In conclusion, regulating the expression of IL-35 may provide a new possible target for the treatment of immune issues in ASD to address an imbalance between pro- and anti-inflammatory signals that alter the behavioral phenotype. Full article
(This article belongs to the Special Issue From Behavior to Pathology: The Underlying Mechanisms in Children with ASD)
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8 pages, 1527 KiB  
Case Report
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder
by José Guevara-Campos, Lucía González-Guevara, José Guevara-González and Omar Cauli
Brain Sci. 2019, 9(6), 137; https://doi.org/10.3390/brainsci9060137 - 13 Jun 2019
Cited by 16 | Viewed by 6324
Abstract
Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as [...] Read more.
Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a seven-year-old girl diagnosed with PCD who presented atypical features of the disease, including a developmental delay involving language skills, concentration, and attention span, as well as autistic features and brain alterations apparent in magnetic resonance imaging. We aim to highlight the difficulties related to the diagnostic and therapeutic approaches used to diagnose such patients. The case reported here presented typical signs of PCD, including frequent episodes of hypoglycemia, generalized muscle weakness, decreased muscle mass, and physical growth deficits. A molecular genetic study confirmed the definitive diagnosis of the disease (c.1345T>G (p.Y449D)) in gene SLC22A5, located in exon 8. PCD can be accompanied by less common clinical signs, which may delay its diagnosis because the resulting global clinical picture can closely resemble other metabolic disorders. In this case, the patient was prescribed a carnitine-enriched diet, as well as oral carnitine at a dose of 100 mg/kg/day. PCD has a better prognosis if it is diagnosed and treated early; however, a high level of clinical suspicion is required for its timely and accurate diagnosis. Full article
(This article belongs to the Special Issue From Behavior to Pathology: The Underlying Mechanisms in Children with ASD)
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