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Brain Sciences
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Autism Spectrum Disorder
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Autism Spectrum Disorder

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

Deadline for manuscript submissions: closed (15 October 2014) | Viewed by 46596

Special Issue Editors

Prof. Dr. Susan Shur-Fen Gau

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Guest Editor
Department of Psychiatry, National Taiwan University Hospital & College of Medicine, Taipei 10002, Taiwan
Dr. Xiaoming Wang

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Guest Editor
Department of Pediatrics/Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA

Special Issue Information

Dear Colleagues,

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by severe and pervasive impairments in social communication and social interaction, and by restricted, repetitive patterns of behavior. It is commonly accepted that ASD has a strong genetic basis; the interactions between genetic, epigenetic, and environmental factors play important roles in the etiology of ASD. Thanks to rapid advances in DNA sequencing technology, many ASD risk genes have been identified in recent years. However, many questions still remain elusive: what are the underlying causal mechanisms of these risky genes that give rise to ASD?  How do these genes interact with environmental or epigenetic factors in the pathogenesis of ASD? Our understanding about the pathogenesis of ASD is still at a very early stage.

The current Special Issue will collect a selected number of reviews and empirical articles that advance our understanding of the pathogenesis of ASD and inspire future direction for treatment.  Topics of interest include, but are not limited to: genetics, epigenetics, animal models, molecular neurobiology, electrophysiology, neuropathology, brain imaging, cognitive neuroscience, biomarker discovery, psychological interventions, and translational research.

Prof. Susan Shur-Fen Gau
Dr. Xiaoming Wang
Guest Editors

Manuscript Submission Information

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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 spectrum disorder
  • social interaction
  • repetitive behavior
  • neurodevelopment
  • genetics
  • epigenetics
  • animal models
  • synaptic plasticity

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Published Papers (5 papers)

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Research

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268 KiB  
Article
Association Study between the CD157/BST1 Gene and Autism Spectrum Disorders in a Japanese Population
by Shigeru Yokoyama, Naila Al Mahmuda, Toshio Munesue, Kenshi Hayashi, Kunimasa Yagi, Masakazu Yamagishi and Haruhiro Higashida
Brain Sci. 2015, 5(2), 188-200; https://doi.org/10.3390/brainsci5020188 - 20 May 2015
Cited by 25 | Viewed by 7266
Abstract
CD157, also referred to as bone marrow stromal cell antigen-1 (BST-1), is a glycosylphosphatidylinositol-anchored molecule that promotes pre-B-cell growth. Previous studies have reported associations between single-nucleotide polymorphisms (SNPs) of the CD157/BST1 gene with Parkinson’s disease. In an attempt to determine whether SNPs or [...] Read more.
CD157, also referred to as bone marrow stromal cell antigen-1 (BST-1), is a glycosylphosphatidylinositol-anchored molecule that promotes pre-B-cell growth. Previous studies have reported associations between single-nucleotide polymorphisms (SNPs) of the CD157/BST1 gene with Parkinson’s disease. In an attempt to determine whether SNPs or haplotypes in the CD157/BST1 are associated with other brain disorders, we performed a case-control study including 147 autism spectrum disorder (ASD) patients at Kanazawa University Hospital in Japan and 150 unselected Japanese volunteers by the sequence-specific primer-polymerase chain reaction method combined with fluorescence correlation spectroscopy. Of 93 SNPs examined, two SNPs showed significantly higher allele frequencies in cases with ASDs than in unaffected controls (rs4301112, OR = 6.4, 95% CI = 1.9 to 22, p = 0.0007; and rs28532698, OR = 6.2, 95% CI = 1.8 to 21, p = 0.0012; Fisher’s exact test; p < 0.002 was considered significant after multiple testing correction). In addition, CT genotype in rs10001565 was more frequently observed in the ASD group than in the control group (OR = 15, 95% CI = 2.0 to 117, p = 0.0007; Fisher’s exact test). The present data indicate that genetic variation of the CD157/BST1 gene might confer susceptibility to ASDs. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder)
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151 KiB  
Article
Lead Excretion in Spanish Children with Autism Spectrum Disorder
by Milagros Fuentes-Albero, Carmen Puig-Alcaraz and Omar Cauli
Brain Sci. 2015, 5(1), 58-68; https://doi.org/10.3390/brainsci5010058 - 16 Feb 2015
Cited by 18 | Viewed by 7666
Abstract
Among epigenetic factors leading to increased prevalence of juvenile neuropsychiatric disorders, including autism spectrum disorder, exposure to metals, such as lead (Pb) have led to conflicting results. The aim of the present study was to determine the levels of Pb in the urine [...] Read more.
Among epigenetic factors leading to increased prevalence of juvenile neuropsychiatric disorders, including autism spectrum disorder, exposure to metals, such as lead (Pb) have led to conflicting results. The aim of the present study was to determine the levels of Pb in the urine of children with autism spectrum disorder (ASD) compared with typically developing children (TD) age- and sex-matched, and to analyze any association between core symptoms of ASD, special diets, supplements intake or prescription drugs and the concentration of Pb. The study was performed in a group of children with ASD (n = 35, average age 7.4 ± 0.5 years) and TD (n = 34, average age 7.7 ± 0.9 years). Measurement of lead in urine was performed by atomic absorption spectrometry; symptoms of ASD were analyzed by diagnostic and statistical manual of mental disorders (DMS-IV) using the questionnary ADI-R. Careful clinical evaluation was also undertaken and statistical analysis was done taking into account any possible confounding factor. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder)
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266 KiB  
Article
Microarray Analysis Reveals Higher Gestational Folic Acid Alters Expression of Genes in the Cerebellum of Mice Offspring—A Pilot Study
by Subit Barua, Salomon Kuizon, Kathryn K. Chadman, W. Ted Brown and Mohammed A. Junaid
Brain Sci. 2015, 5(1), 14-31; https://doi.org/10.3390/brainsci5010014 - 26 Jan 2015
Cited by 23 | Viewed by 8246
Abstract
Folate is a water-soluble vitamin that is critical for nucleotide synthesis and can modulate methylation of DNA by altering one-carbon metabolism. Previous studies have shown that folate status during pregnancy is associated with various congenital defects including the risk of aberrant neural tube [...] Read more.
Folate is a water-soluble vitamin that is critical for nucleotide synthesis and can modulate methylation of DNA by altering one-carbon metabolism. Previous studies have shown that folate status during pregnancy is associated with various congenital defects including the risk of aberrant neural tube closure. Maternal exposure to a methyl supplemented diet also can alter DNA methylation and gene expression, which may influence the phenotype of offspring. We investigated if higher gestational folic acid (FA) in the diet dysregulates the expression of genes in the cerebellum of offspring in C57BL/6 J mice. One week before gestation and throughout the pregnancy, groups of dams were supplemented with FA either at 2 mg/kg or 20 mg/kg of diet. Microarray analysis was used to investigate the genome wide gene expression profile in the cerebellum from day old pups. Our results revealed that exposure to the higher dose FA diet during gestation dysregulated expression of several genes in the cerebellum of both male and female pups. Several transcription factors, imprinted genes, neuro-developmental genes and genes associated with autism spectrum disorder exhibited altered expression levels. These findings suggest that higher gestational FA potentially dysregulates gene expression in the offspring brain and such changes may adversely alter fetal programming and overall brain development. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder)
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461 KiB  
Article
Lipo-oxytocin-1, a Novel Oxytocin Analog Conjugated with Two Palmitoyl Groups, Has Long-Lasting Effects on Anxiety-Related Behavior and Social Avoidance in CD157 Knockout Mice
by Akira Mizuno, Stanislav M. Cherepanov, Yusuke Kikuchi, Azam AKM Fakhrul, Shirin Akther, Kisaburo Deguchi, Toru Yoshihara, Katsuhiko Ishihara, Satoshi Shuto and Haruhiro Higashida
Brain Sci. 2015, 5(1), 3-13; https://doi.org/10.3390/brainsci5010003 - 20 Jan 2015
Cited by 36 | Viewed by 11531
Abstract
Oxytocin (OT) is a nonapeptide hormone that is secreted into the brain and blood circulation. OT has not only classical neurohormonal roles in uterine contraction and milk ejection during the reproductive phase in females, but has also been shown to have new pivotal [...] Read more.
Oxytocin (OT) is a nonapeptide hormone that is secreted into the brain and blood circulation. OT has not only classical neurohormonal roles in uterine contraction and milk ejection during the reproductive phase in females, but has also been shown to have new pivotal neuromodulatory roles in social recognition and interaction in both genders. A single administration of OT through nasal spray increases mutual recognition and trust in healthy subjects and psychiatric patients, suggesting that OT is a potential therapeutic drug for autism spectrum disorders, schizophrenia, and some other psychiatric disorders. Although the mechanism is not well understood, it is likely that OT can be transported into the brain where it activates OT receptors to exert its function in the brain. However, the amount transported into the brain may be low. To ensure equivalent effects, an OT analog with long-lasting and effective blood-brain barrier penetration properties would be beneficial for use as a therapeutic drug. Here, we designed and synthesized a new oxytocin analog, lipo-oxytocin-1 (LOT-1), in which two palmitoyl groups are conjugated at the amino group of the cysteine9 residue and the phenolic hydroxyl group of the tyrosine8 residue of the OT molecule. To determine whether LOT-1 actually has an effect on the central nervous system, we examined its effects in a CD157 knockout model mouse of the non-motor psychiatric symptoms of Parkinson’s disease. Similar to OT, this analog rescued anxiety-like behavior and social avoidance in the open field test with the social target in a central arena 30 min after intraperitoneal injection in CD157 knockout mice. When examined 24 h after injection, the mice treated with LOT-1 displayed more recovery than those given OT. The results suggest that LOT-1 has a functional advantage in recovery of social behavioral impairment, such as those caused by neurodegenerative diseases, autism spectrum disorders, and schizophrenia. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder)
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Review

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179 KiB  
Review
Autism Spectrum Disorder (ASD) and Fragile X Syndrome (FXS): Two Overlapping Disorders Reviewed through Electroencephalography—What Can be Interpreted from the Available Information?
by Niamh Mc Devitt, Louise Gallagher and Richard B. Reilly
Brain Sci. 2015, 5(2), 92-117; https://doi.org/10.3390/brainsci5020092 - 27 Mar 2015
Cited by 26 | Viewed by 11112
Abstract
Autism Spectrum Disorder (ASD) and Fragile X syndrome (FXS) are neurodevelopmental disorders with different but potentially related neurobiological underpinnings, which exhibit significant overlap in their behavioural symptoms. FXS is a neurogenetic disorder of known cause whereas ASD is a complex genetic disorder, with [...] Read more.
Autism Spectrum Disorder (ASD) and Fragile X syndrome (FXS) are neurodevelopmental disorders with different but potentially related neurobiological underpinnings, which exhibit significant overlap in their behavioural symptoms. FXS is a neurogenetic disorder of known cause whereas ASD is a complex genetic disorder, with both rare and common genetic risk factors and likely genetic and environmental interaction effects. A comparison of the phenotypic presentation of the two disorders may highlight those symptoms that are more likely to be under direct genetic control, for example in FXS as opposed to shared symptoms that are likely to be under the control of multiple mechanisms. This review is focused on the application and analysis of electroencephalography data (EEG) in ASD and FXS. Specifically, Event Related Potentials (ERP) and resting state studies (rEEG) studies investigating ASD and FXS cohorts are compared. This review explores the electrophysiological similarities and differences between the two disorders in addition to the potentially associated neurobiological mechanisms at play. A series of pertinent research questions which are suggested in the literature are also posed within the review. Full article
(This article belongs to the Special Issue Autism Spectrum Disorder)
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