Special Issue "Autism Spectrum Disorder: From Etio-Pathology to Treatment"

A special issue of Brain Sciences (ISSN 2076-3425).

Deadline for manuscript submissions: closed (15 September 2017).

Special Issue Editor

Guest Editor
Dr. Pushpal Desarkar

Medical Head, Adult Neurodevelopmental Services, Centre for Addiction and Mental Health; Clinician-Scientist, Temerty Centre for Therapeutic Intervention and Assistant Professor of Psychiatry, University of Toronto, Toronto, Ontario, Canada
Website | E-Mail
Interests: Autism Spectrum Disorder; brain stimulation; neurophysiology; neuroscience; psychopharmacology

Special Issue Information

Dear Colleagues,

Autism Spectrum Disorder (ASD) is the most common neurodevelopmental disorder. Almost seven decades have passed since Leo Kanner’s original description of the condition, yet the cause of ASD is still unknown and there is no identified cure. Since the turn of the century, significant advancements have been made in ASD research, and a range of macro- and micro-structural, neurochemical, functional, anatomic, and genetic abnormalities have been proposed. Findings emerging from these research studies have started to influence intervention research more than ever over the past couple of decades.

In this exciting Special Issue on “Autism Spectrum Disorder: From Etio-Pathology to Treatment”, we would like to invite manuscripts on different translational pathways between research conducted on ‘etio-pathology’ and ‘mechanism-driven treatment’ in ASD. We are specifically requesting submission of papers on a diverse topics related to ‘etio-pathology’, e.g., neuroimaging, neuroanatomy, genetics, neurophysiology, neuropathology, etc and ‘treatment’, e.g., pharmacological, brain stimulation, non-pharmacological, such as behavioral, sensory, and psychological intervention, etc. Authors are advised that submissions with an etiological focus should have a translational emphasis and submissions with a treatment focus should be neurobiologically informed. As such, the scope is quite broad and works in both basic science and clinical science are welcome.

Dr. Pushpal Desarkar
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 papers will be 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 1400 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
  • Neurobiology
  • Translational Research
  • Novel Treatment

Published Papers (9 papers)

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Research

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Open AccessArticle
Early Detection and Intervention of ASD: A European Overview
Brain Sci. 2017, 7(12), 159; https://doi.org/10.3390/brainsci7120159
Received: 17 October 2017 / Revised: 20 November 2017 / Accepted: 28 November 2017 / Published: 1 December 2017
Cited by 6 | PDF Full-text (1041 KB) | HTML Full-text | XML Full-text
Abstract
Over the last several years there has been an increasing focus on early detection of Autism Spectrum Disorder (ASD), not only from the scientific field but also from professional associations and public health systems all across Europe. Not surprisingly, in order to offer [...] Read more.
Over the last several years there has been an increasing focus on early detection of Autism Spectrum Disorder (ASD), not only from the scientific field but also from professional associations and public health systems all across Europe. Not surprisingly, in order to offer better services and quality of life for both children with ASD and their families, different screening procedures and tools have been developed for early assessment and intervention. However, current evidence is needed for healthcare providers and policy makers to be able to implement specific measures and increase autism awareness in European communities. The general aim of this review is to address the latest and most relevant issues related to early detection and treatments. The specific objectives are (1) analyse the impact, describing advantages and drawbacks, of screening procedures based on standardized tests, surveillance programmes, or other observational measures; and (2) provide a European framework of early intervention programmes and practices and what has been learnt from implementing them in public or private settings. This analysis is then discussed and best practices are suggested to help professionals, health systems and policy makers to improve their local procedures or to develop new proposals for early detection and intervention programmes. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
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Open AccessArticle
Effects of Three Lipidated Oxytocin Analogs on Behavioral Deficits in CD38 Knockout Mice
Brain Sci. 2017, 7(10), 132; https://doi.org/10.3390/brainsci7100132
Received: 14 September 2017 / Revised: 3 October 2017 / Accepted: 11 October 2017 / Published: 16 October 2017
Cited by 5 | PDF Full-text (1733 KB) | HTML Full-text | XML Full-text | Supplementary Files
Abstract
Oxytocin (OT) is a nonapeptide that plays an important role in social behavior. Nasal administration of OT has been shown to improve trust in healthy humans and social interaction in autistic subjects. As is consistent with the nature of a peptide, OT has [...] Read more.
Oxytocin (OT) is a nonapeptide that plays an important role in social behavior. Nasal administration of OT has been shown to improve trust in healthy humans and social interaction in autistic subjects. As is consistent with the nature of a peptide, OT has some unfavorable characteristics: it has a short half-life in plasma and shows poor permeability across the blood-brain barrier. Analogs with long-lasting effects may overcome these drawbacks. To this end, we have synthesized three analogs: lipo-oxytocin-1 (LOT-1), in which two palmitoyl groups are conjugated to the cysteine and tyrosine residues, lipo-oxytocin-2 (LOT-2) and lipo-oxytocin-3 (LOT-3), which include one palmitoyl group conjugated at the cysteine or tyrosine residue, respectively. The following behavioral deficits were observed in CD38 knockout (CD38−/−) mice: a lack of paternal nurturing in CD38−/− sires, decreased ability for social recognition, and decreased sucrose consumption. OT demonstrated the ability to recover these disturbances to the level of wild-type mice for 30 min after injection. LOT-2 and LOT-3 partially recovered the behaviors for a short period. Conversely, LOT-1 restored the behavioral parameters, not for 30 min, but for 24 h. These data suggest that the lipidation of OT has some therapeutic benefits, and LOT-1 would be most useful because of its long-last activity. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
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Open AccessArticle
Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism
Brain Sci. 2017, 7(9), 115; https://doi.org/10.3390/brainsci7090115
Received: 15 August 2017 / Revised: 2 September 2017 / Accepted: 6 September 2017 / Published: 9 September 2017
Cited by 5 | PDF Full-text (493 KB) | HTML Full-text | XML Full-text
Abstract
Background: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D3 [...] Read more.
Background: Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D3 has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene. Methods: Genetic association of four different VDR polymorphisms (Apa-I, Bsm-I, Taq-I, Fok-I) associated with susceptibility to the development of autism in children was investigated. Results: We uniquely found an association between the presence of the T allele at position Taq-I and presence of the a allele at position Apa-I of the VDR gene with decreased ASD incidence. There was also an association between female gender and the presence of the T allele. We found no statistical significant correlation between VDR single nucleotide polymorphisms (SNPs) and vitamin D3 concentration in serum of ASD children. Conclusion: Genetic polymorphism in two SNP in VDR may be correlated with development of ASD symptoms by influencing functionality of vitamin D3 metabolism, while vitamin D3 levels were not significantly different between ASD and non-ASD children. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
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Open AccessArticle
Sensory and Physico-Psychological Metaphor Comprehension in Children with ASD: A Preliminary Study on the Outcomes of a Treatment
Brain Sci. 2017, 7(7), 85; https://doi.org/10.3390/brainsci7070085
Received: 26 May 2017 / Revised: 8 July 2017 / Accepted: 11 July 2017 / Published: 17 July 2017
Cited by 8 | PDF Full-text (849 KB) | HTML Full-text | XML Full-text
Abstract
Recent research into difficulties in figurative language in children with ASD highlighted that it is possible to devise training interventions to overcome these difficulties by teaching specific strategies. This study describes how children with ASD can improve their capability to explain metaphors with [...] Read more.
Recent research into difficulties in figurative language in children with ASD highlighted that it is possible to devise training interventions to overcome these difficulties by teaching specific strategies. This study describes how children with ASD can improve their capability to explain metaphors with a treatment. Two types of metaphors, in the “X is Y” form, were addressed: sensory and physico-psychological. To face the difficulties posed by these metaphors, the adult taught two strategies: inserting the connective “is like” between “X” and “Y”, which transforms the metaphor into a simile; comparing “X” and “Y” by means of thinking maps. Two tests of metaphor comprehension were used, one based on sensory and the other on physico-psychological metaphors. Sixteen 10 year-old children participated into the study, including an experimental group formed by 8 children with ASD (n = 4) which had received the treatment, and a control group (n = 4) which had not, and 8 typically-developing (TD) children. At the post-test, the experimental group significantly outperformed the controls in explaining both types of metaphors, but only in the sensory metaphors did their performances reach TD children’s levels. These results illuminate how clinical treatment can positively influence the developmental trajectories of metaphor comprehension. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)

Review

Jump to: Research

Open AccessReview
Please Wait, Processing: A Selective Literature Review of the Neurological Understanding of Emotional Processing in ASD and Its Potential Contribution to Neuroeducation
Brain Sci. 2017, 7(11), 153; https://doi.org/10.3390/brainsci7110153
Received: 28 September 2017 / Revised: 1 November 2017 / Accepted: 13 November 2017 / Published: 17 November 2017
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Abstract
Autism spectrum disorder (ASD) and its corresponding conditions have been investigated from a multitude of perspectives resulting in varying understandings of its origin, its outplay, its prognosis, and potential methods of intervention and education for individuals with the disorder. One area that has [...] Read more.
Autism spectrum disorder (ASD) and its corresponding conditions have been investigated from a multitude of perspectives resulting in varying understandings of its origin, its outplay, its prognosis, and potential methods of intervention and education for individuals with the disorder. One area that has contributed significantly to providing a different type of understanding is that of neuroscience, and specifically neuroimaging. This paper will offer a selective literature review of research that investigates the role of emotional processing in ASD, and how a deepening of this line of understanding can be used to inform more comprehensive educational practices. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
Open AccessReview
Is High Folic Acid Intake a Risk Factor for Autism?—A Review
Brain Sci. 2017, 7(11), 149; https://doi.org/10.3390/brainsci7110149
Received: 14 September 2017 / Revised: 2 November 2017 / Accepted: 6 November 2017 / Published: 10 November 2017
Cited by 9 | PDF Full-text (224 KB) | HTML Full-text | XML Full-text
Abstract
Folate is required for metabolic processes and neural development. Insuring its adequate levels for pregnant women through supplementation of grain-based foods with synthetic folic acid (FA) in order to prevent neural tube defects has been an ongoing public health initiative. However, because women [...] Read more.
Folate is required for metabolic processes and neural development. Insuring its adequate levels for pregnant women through supplementation of grain-based foods with synthetic folic acid (FA) in order to prevent neural tube defects has been an ongoing public health initiative. However, because women are advised to take multivitamins containing FA before and throughout pregnancy, the supplementation together with natural dietary folates has led to a demographic with high and rising serum levels of unmetabolized FA. This raises concerns about the detrimental effects of high serum synthetic FA, including a rise in risk for autism spectrum disorder (ASD). Some recent studies have reported a protective effect of FA fortification against ASD, but others have concluded there is an increased risk for ASD and other negative neurocognitive development outcomes. These issues are accompanied by further health questions concerning high, unmetabolized FA levels in serum. In this review, we outline the reasons excess FA supplementation is a concern and review the history and effects of supplementation. We then examine the effects of FA on neuronal development from tissue culture experiments, review recent advances in understanding of metabolic functional blocks in causing ASD and treatment for these with alternative forms such as folinic acid, and finally summarize the conflicting epidemiological findings regarding ASD. Based on the evidence evaluated, we conclude that caution regarding over supplementing is warranted. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
Open AccessReview
Self-Injury in Autism Spectrum Disorder and Intellectual Disability: Exploring the Role of Reactivity to Pain and Sensory Input
Brain Sci. 2017, 7(11), 140; https://doi.org/10.3390/brainsci7110140
Received: 18 September 2017 / Revised: 11 October 2017 / Accepted: 23 October 2017 / Published: 26 October 2017
Cited by 4 | PDF Full-text (253 KB) | HTML Full-text | XML Full-text
Abstract
This paper provides information about the prevalence and topography of self-injurious behavior in children and adults with autism spectrum disorder and intellectual disability. Dominant models regarding the etiology of self-injury in this population are reviewed, with a focus on the role of reactivity [...] Read more.
This paper provides information about the prevalence and topography of self-injurious behavior in children and adults with autism spectrum disorder and intellectual disability. Dominant models regarding the etiology of self-injury in this population are reviewed, with a focus on the role of reactivity to pain and sensory input. Neuroimaging studies are presented and suggestions are offered for future research. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
Open AccessReview
Neural Hyperexcitability in Autism Spectrum Disorders
Brain Sci. 2017, 7(10), 129; https://doi.org/10.3390/brainsci7100129
Received: 5 September 2017 / Revised: 29 September 2017 / Accepted: 5 October 2017 / Published: 13 October 2017
Cited by 7 | PDF Full-text (901 KB) | HTML Full-text | XML Full-text
Abstract
Despite the progress that has been made in research on autism spectrum disorders (ASD), the understanding of the biological basis of ASD to identify targets for novel, effective treatment remains limited. One of the leading biological theories of autism is a model of [...] Read more.
Despite the progress that has been made in research on autism spectrum disorders (ASD), the understanding of the biological basis of ASD to identify targets for novel, effective treatment remains limited. One of the leading biological theories of autism is a model of cortical hyperexcitability. While numerous genetic and epigenetic studies support this model, how this particular biological alteration relates to known phenotypes in ASD is not well established. Using examples of sensory processing alterations, this review illustrates how cortical excitability may affect neural processes to result eventually in some core clinical phenotypes in ASD. Applications of the cortical excitability model for translational research and drug development are also discussed. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
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Open AccessReview
Assessing Sensory Processing Dysfunction in Adults and Adolescents with Autism Spectrum Disorder: A Scoping Review
Brain Sci. 2017, 7(8), 108; https://doi.org/10.3390/brainsci7080108
Received: 5 July 2017 / Revised: 4 August 2017 / Accepted: 14 August 2017 / Published: 19 August 2017
Cited by 6 | PDF Full-text (1176 KB) | HTML Full-text | XML Full-text | Supplementary Files
Abstract
Sensory reactivity is a diagnostic criterion for Autism Spectrum Disorder (ASD), and has been associated with poorer functional outcomes, behavioral difficulties, and autism severity across the lifespan. Yet, there is little consensus on best practice approaches to assessing sensory processing dysfunction in adolescents [...] Read more.
Sensory reactivity is a diagnostic criterion for Autism Spectrum Disorder (ASD), and has been associated with poorer functional outcomes, behavioral difficulties, and autism severity across the lifespan. Yet, there is little consensus on best practice approaches to assessing sensory processing dysfunction in adolescents and adults with ASD. Despite growing evidence that sensory symptoms persist into adolescence and adulthood, there is a lack of norms for older age groups, and pediatric assessments may not target appropriate functional outcomes or environments. This review identified approaches used to measure sensory processing in the scientific literature, and to describe and compare these approaches to current best practice guidelines that can be incorporated into evidence-based practice. Method and Analysis: A search of scientific databases and grey literature (professional association and ASD society websites), from January 1987–May 2017, uncovered 4769 articles and 12 clinical guidelines. Study and sample characteristics were extracted, charted, and categorized according to assessment approach. Results: There were 66 articles included after article screening. Five categories of assessment approaches were identified: Self- and Proxy-Report Questionnaires, Psychophysical Assessment, Direct Behavioral Observation, Qualitative Interview Techniques, and Neuroimaging/EEG. Sensory research to date has focused on individuals with high-functioning ASD, most commonly through the use of self-report questionnaires. The Adolescent and Adult Sensory Profile (AASP) is the most widely used assessment measure (n = 22), however, a number of other assessment approaches may demonstrate strengths specific to the ASD population. Multi-method approaches to assessment (e.g., combining psychophysical or observation with questionnaires) may have clinical applicability to interdisciplinary clinical teams serving adolescents and adults with ASD. Contribution: A comprehensive knowledge of approaches is critical in the clinical assessment of a population characterized by symptomatic heterogeneity and wide-ranging cognitive profiles. This review should inform future development of international interdisciplinary clinical guidelines on sensory processing assessment in ASD across the lifespan. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder: From Etio-Pathology to Treatment)
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