scholarly journals Recent Progress on Relevant microRNAs in Autism Spectrum Disorders

2020 ◽  
Vol 21 (16) ◽  
pp. 5904 ◽  
Author(s):  
Xingwang Wu ◽  
Wanran Li ◽  
Yun Zheng
Keyword(s):  
Autism Spectrum Disorder ◽  
Recent Progress ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Transcriptional Level ◽  
Biological Processes ◽  
Non Coding Rna ◽  
Spectrum Disorders ◽  
Genetic And Environmental Factors ◽  
Almost All

Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose pathogenesis is unclear and is affected by both genetic and environmental factors. The microRNAs (miRNAs) are a kind of single-stranded non-coding RNA with 20-22 nucleotides, which normally inhibit their target mRNAs at a post-transcriptional level. miRNAs are involved in almost all biological processes and are closely related to ASD and many other diseases. In this review, we summarize relevant miRNAs in ASD, and analyze dysregulated miRNAs in brain tissues and body fluids of ASD patients, which may contribute to the pathogenesis and diagnosis of ASD.

scholarly journals In Silico Exploration of the Potential Role of Acetaminophen and Pesticides in the Etiology of Autism Spectrum Disorder

Toxics ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 97
Author(s):  
Tristan Furnary ◽  
Rolando Garcia-Milian ◽  
Zeyan Liew ◽  
Shannon Whirledge ◽  
Vasilis Vasiliou
Keyword(s):  
Autism Spectrum Disorder ◽  
Prenatal Exposure ◽  
Pesticide Exposure ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Biomedical Literature ◽  
Spectrum Disorder ◽  
Biological Processes ◽  
Genetic Associations ◽  
Increased Risk

Recent epidemiological studies suggest that prenatal exposure to acetaminophen (APAP) is associated with increased risk of Autism Spectrum Disorder (ASD), a neurodevelopmental disorder affecting 1 in 59 children in the US. Maternal and prenatal exposure to pesticides from food and environmental sources have also been implicated to affect fetal neurodevelopment. However, the underlying mechanisms for ASD are so far unknown, likely with complex and multifactorial etiology. The aim of this study was to explore the potential effects of APAP and pesticide exposure on development with regards to the etiology of ASD by highlighting common genes and biological pathways. Genes associated with APAP, pesticides, and ASD through human research were retrieved from molecular and biomedical literature databases. The interaction network of overlapping genetic associations was subjected to network topology analysis and functional annotation of the resulting clusters. These genes were over-represented in pathways and biological processes (FDR p < 0.05) related to apoptosis, metabolism of reactive oxygen species (ROS), and carbohydrate metabolism. Since these three biological processes are frequently implicated in ASD, our findings support the hypothesis that cell death processes and specific metabolic pathways, both of which appear to be targeted by APAP and pesticide exposure, may be involved in the etiology of ASD. This novel exposures-gene-disease database mining might inspire future work on understanding the biological underpinnings of various ASD risk factors.

scholarly journals MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Elif Funda Sener ◽  
Didem Behice Oztop ◽  
Yusuf Ozkul
Keyword(s):  
Autism Spectrum Disorders ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Autistic Children ◽  
Dsm V ◽  
Pcr Rflp ◽  
Spectrum Disorders ◽  
Genetic And Environmental Factors

Aim. Autism is a subgroup of autism spectrum disorders, classified as a heterogeneous neurodevelopmental disorder and symptoms occur in the first three years of life. The etiology of autism is largely unknown, but it has been accepted that genetic and environmental factors may both be responsible for the disease. Recent studies have revealed that the genes involved in the folate/homocysteine pathway may be risk factors for autistic children. In particular, C677T polymorphism in the MTHFR gene as a possible risk factor for autism is still controversial. We aimed to investigate the possible effect of C677T polymorphism in a Turkish cohort. Methods. Autism patients were diagnosed by child psychiatrists according to DSM-IV and DSM-V criteria. A total of 98 children diagnosed as autistic and 70 age and sex-matched children who are nonautistic were tested for C677T polymorphism. This polymorphism was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. Results. MTHFR 677T-allele frequency was found to be higher in autistic children compared with nonautistic children (29% versus 24%), but it was not found statistically significant. Conclusions. We conclude that other MTHFR polymorphisms such as A1298C or other folate/homocysteine pathway genes may be studied to show their possible role in autism.

scholarly journals An Overview of Genetic and Environmental Risk of Autism Spectrum Disorder

2019 ◽  
pp. 37-44 ◽  
Author(s):  
Jianjun Ou ◽  
Ruiting Liu ◽  
Yidong Shen ◽  
Kun Xia ◽  
Jingping Zhao
Keyword(s):  
Autism Spectrum Disorder ◽  
Environmental Factors ◽  
Rare Variants ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorder ◽  
Nucleotide Polymorphisms ◽  
Genetic And Environmental Factors

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder typically diagnosed in children in the first few years of life. Genetic studies have demonstrated a moderate to high heritability of ASD, but only a limited number of single nucleotide polymorphisms (SNPs) have been identified. Meanwhile, numerous single de novo rare variants and copy number variations have been detected in patients with ASD, which are likely caused by environmental factors. Here we provide an overview of genetic and environmental factors that may contribute to the risk of ASD and we recommend that further study should be focused on both genes and environmental factors, as well as their interactions with the expectation that epigenetic studies will lead to understanding the link between the environment and risk of ASD.

scholarly journals Brain-enriched coding and long non-coding RNA genes are overrepresented in recurrent autism spectrum disorder CNVs

2019 ◽  
Author(s):  
Hamid Alinejad-Rokny ◽  
Julian I.T. Heng ◽  
Alistair R.R. Forrest
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorder ◽  
Expression Patterns ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorder ◽  
Non Coding Rna ◽  
Causal Genes ◽  
Long Non Coding Rna ◽  
Rna Genes

AbstractAutism spectrum disorder (ASD) is a neurodevelopmental disorder with substantial phenotypic and etiological heterogeneity. It is estimated that 10-20% of cases are due to copy number variations (CNVs). Here we apply a newly developed CNV association tool (SNATCNV) to reanalyse CNV data from 19,663 autistic and 6,479 control subjects from the AutDB database. We demonstrate that SNATCNV outperforms existing CNV association methods by finding smaller genomic regions that better discriminate cases and controls. By integrating data from the FANTOM5 expression atlas we show that both known ASD causal genes identified by the SFARI and MSSNG consortia and genes within the CNVs identified by SNATCNV have brain enriched expression patterns; both brain-enriched coding and long-non-coding RNA genes are over-represented. We provide full lists of these brain enriched coding and lncRNA genes as a resource to the research community. We also go on to show that each CNV region is associated with a distinct set of phenotypes, that some are sex biased and highlight one deleted region where a brain-enriched lncRNA is the only gene present. Our analyses identify 47 high confidence ASD associated CNV regions and identifies brain-enriched genes which underlie this neurodevelopmental disorder.

scholarly journals Longitudinal study of stool-associated microbial taxa in sibling pairs with and without autism spectrum disorder

2021 ◽  
Vol 1 (1) ◽  
Author(s):  
Christine Tataru ◽  
Austin Martin ◽  
Kaitlyn Dunlap ◽  
Marie Peras ◽  
Brianna S. Chrisman ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorder ◽  
Amplicon Sequencing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Microbiome Composition ◽  
Sibling Pairs ◽  
Matched Sibling ◽  
Stool Samples ◽  
Genetic And Environmental Factors

AbstractAutism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder influenced by both genetic and environmental factors. Recently, gut dysbiosis has emerged as a powerful contributor to ASD symptoms. In this study, we recruited over 100 age-matched sibling pairs (between 2 and 8 years old) where one had an Autism ASD diagnosis and the other was developing typically (TD) (432 samples total). We collected stool samples over four weeks, tracked over 100 lifestyle and dietary variables, and surveyed behavior measures related to ASD symptoms. We identified 117 amplicon sequencing variants (ASVs) that were significantly different in abundance between sibling pairs across all three timepoints, 11 of which were supported by at least two contrast methods. We additionally identified dietary and lifestyle variables that differ significantly between cohorts, and further linked those variables to the ASVs they statistically relate to. Overall, dietary and lifestyle features were explanatory of ASD phenotype using logistic regression, however, global compositional microbiome features were not. Leveraging our longitudinal behavior questionnaires, we additionally identified 11 ASVs associated with changes in reported anxiety over time within and across all individuals. Lastly, we find that overall microbiome composition (beta-diversity) is associated with specific ASD-related behavioral characteristics.

Problem behavior in autism spectrum disorders: A paradigmatic self-organized perspective of network structures

2019 ◽  
Vol 42 ◽  
Author(s):  
Lucio Tonello ◽  
Luca Giacobbi ◽  
Alberto Pettenon ◽  
Alessandro Scuotto ◽  
Massimo Cocchi ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Problem Behaviors ◽  
Autism Spectrum ◽  
The Self ◽  
Network Structures ◽  
Self Organized ◽  
Critical Equilibrium ◽  
Self Organized Criticality ◽  
Acute Agitation ◽  
Spectrum Disorders

AbstractAutism spectrum disorder (ASD) subjects can present temporary behaviors of acute agitation and aggressiveness, named problem behaviors. They have been shown to be consistent with the self-organized criticality (SOC), a model wherein occasionally occurring “catastrophic events” are necessary in order to maintain a self-organized “critical equilibrium.” The SOC can represent the psychopathology network structures and additionally suggests that they can be considered as self-organized systems.

Specialized Diet Therapies: Exploration for Improving Behavior in Autism Spectrum Disorder (ASD)

2020 ◽  
Vol 27 (40) ◽  
pp. 6771-6786
Author(s):  
Geir Bjørklund ◽  
Nagwa Abdel Meguid ◽  
Maryam Dadar ◽  
Lyudmila Pivina ◽  
Joanna Kałużna-Czaplińska ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorder ◽  
Caloric Intake ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Nutritional Deficiencies ◽  
Childhood And Adolescence ◽  
Restricted Interests ◽  
Balanced Diet ◽  
The Individual

As a major neurodevelopmental disorder, Autism Spectrum Disorder (ASD) encompasses deficits in communication and repetitive and restricted interests or behaviors in childhood and adolescence. Its etiology may come from either a genetic, epigenetic, neurological, hormonal, or an environmental cause, generating pathways that often altogether play a synergistic role in the development of ASD pathogenesis. Furthermore, the metabolic origin of ASD should be important as well. A balanced diet consisting of the essential and special nutrients, alongside the recommended caloric intake, is highly recommended to promote growth and development that withstand the physiologic and behavioral challenges experienced by ASD children. In this review paper, we evaluated many studies that show a relationship between ASD and diet to develop a better understanding of the specific effects of the overall diet and the individual nutrients required for this population. This review will add a comprehensive update of knowledge in the field and shed light on the possible nutritional deficiencies, metabolic impairments (particularly in the gut microbiome), and malnutrition in individuals with ASD, which should be recognized in order to maintain the improved socio-behavioral habit and physical health.

scholarly journals Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kohei Kitagawa ◽  
Kensuke Matsumura ◽  
Masayuki Baba ◽  
Momoka Kondo ◽  
Tomoya Takemoto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Behavior ◽  
Mouse Model ◽  
Mouse Models ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
De Novo Mutation ◽  
Behavioral Deficits

AbstractAutism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by core symptoms of impaired social behavior and communication. Recent studies have suggested that the oxytocin system, which regulates social behavior in mammals, is potentially involved in ASD. Mouse models of ASD provide a useful system for understanding the associations between an impaired oxytocin system and social behavior deficits. However, limited studies have shown the involvement of the oxytocin system in the behavioral phenotypes in mouse models of ASD. We have previously demonstrated that a mouse model that carries the ASD patient-derived de novo mutation in the pogo transposable element derived with zinc finger domain (POGZWT/Q1038R mice), showed ASD-like social behavioral deficits. Here, we have explored whether oxytocin (OXT) administration improves impaired social behavior in POGZWT/Q1038R mice and found that intranasal oxytocin administration effectively restored the impaired social behavior in POGZWT/Q1038R mice. We also found that the expression level of the oxytocin receptor gene (OXTR) was low in POGZWT/Q1038R mice. However, we did not detect significant changes in the number of OXT-expressing neurons between the paraventricular nucleus of POGZWT/Q1038R mice and that of WT mice. A chromatin immunoprecipitation assay revealed that POGZ binds to the promoter region of OXTR and is involved in the transcriptional regulation of OXTR. In summary, our study demonstrate that the pathogenic mutation in the POGZ, a high-confidence ASD gene, impairs the oxytocin system and social behavior in mice, providing insights into the development of oxytocin-based therapeutics for ASD.

scholarly journals A novel automated autism spectrum disorder detection system

2021 ◽  
Author(s):  
Shu Lih Oh ◽  
V. Jahmunah ◽  
N. Arunkumar ◽  
Enas W. Abdulhay ◽  
Raj Gururajan ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Disorder ◽  
Detection System ◽  
Brain Activity ◽  
Limited Range ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Nonlinear Features ◽  
Genetic And Environmental Factors ◽  
Future Work

AbstractAutism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person’s life. Autism is influenced by both genetic and environmental factors. Lack of social interaction, communication problems, and a limited range of behaviors and interests are possible characteristics of autism in children, alongside other symptoms. Electroencephalograms provide useful information about changes in brain activity and hence are efficaciously used for diagnosis of neurological disease. Eighteen nonlinear features were extracted from EEG signals of 40 children with a diagnosis of autism spectrum disorder and 37 children with no diagnosis of neuro developmental disorder children. Feature selection was performed using Student’s t test, and Marginal Fisher Analysis was employed for data reduction. The features were ranked according to Student’s t test. The three most significant features were used to develop the autism index, while the ranked feature set was input to SVM polynomials 1, 2, and 3 for classification. The SVM polynomial 2 yielded the highest classification accuracy of 98.70% with 20 features. The developed classification system is likely to aid healthcare professionals as a diagnostic tool to detect autism. With more data, in our future work, we intend to employ deep learning models and to explore a cloud-based detection system for the detection of autism. Our study is novel, as we have analyzed all nonlinear features, and we are one of the first groups to have uniquely developed an autism (ASD) index using the extracted features.

scholarly journals Mealtime Behaviors and Food Preferences of Students with Autism Spectrum Disorder

Foods ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 49
Author(s):  
Hae Jin Park ◽  
Su Jin Choi ◽  
Yuri Kim ◽  
Mi Sook Cho ◽  
Yu-Ri Kim ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Nutrition Education ◽  
Neurodevelopmental Disorder ◽  
Food Preferences ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Online Questionnaire ◽  
Mealtime Behavior ◽  
High Level

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of social communication and restrictive, repetitive behaviors or interests. This study aimed to examine the mealtime behaviors and food preferences of students with ASD. An online questionnaire on mealtime behavior and food preferences of ASD students was conducted by caregivers including parents, and the average age of ASD students was 14.1 ± 6.1. The analysis of mealtime behavior resulted in classification into three clusters: cluster 1, the “low-level problematic mealtime behavior group”; cluster 2, the “mid-level problematic mealtime behavior group”; and cluster 3, the “high-level problematic mealtime behavior group”. Cluster 1 included older students than other clusters and their own specific dietary rituals. Meanwhile, cluster 3 included younger students than other clusters, high-level problematic mealtime behavior, and a low preference for food. In particular, there were significant differences in age and food preference for each subdivided ASD group according to their eating behaviors. Therefore, the content and method of nutrition education for ASD students’ needs a detailed approach according to the characteristics of each group.

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