scholarly journals Blood RNA Sequencing Confirms Upregulated BATF2 and FCGR1A Expression in Children with Autism Spectrum Disorder

2021 ◽  
Author(s):  
Irena Voinsky ◽  
Yazeed Zoabi ◽  
Noam Shomron ◽  
Moria Harel ◽  
Hanoch Cassuto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Cancer Risk ◽  
Rna Sequencing ◽  
Whole Blood ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Rna Seq ◽  
Blood Samples ◽  
Children With Asd ◽  
Whole Blood Samples

Abstract Mutations in over 100 genes are implicated in autism spectrum disorder (ASD). DNA mutations and epigenomic modifications also contribute to ASD. Transcriptomics analysis of blood samples may offer clues for pathways dysregulated in ASD. To expand and validate published findings of RNA-sequencing (RNA-seq) studies, we performed RNA-seq of whole blood samples from a discovery cohort of eight children with ASD compared with nine age- and sex-matched neurotypical children. This revealed 10 genes with differential expression. Using real-time PCR, we compared whole blood samples from 35 children with ASD and 21 matched neurotypical children for the 10 dysregulated genes detected by RNA-seq. This revealed higher expression levels of the proinflammatory transcripts BATF2 and FCGR1A, and lower expression levels of the anti-inflammatory transcripts ISG15 and MT2A in the ASD compared to the control group. BATF2 and FCGR1A were recently reported as upregulated in blood samples of Japanese adults with ASD. Coupled with that publication, our findings support involvement of these genes in ASD phenotypes, independent of age and ethnicity. Upregulation of BATF2 and FCGR1A and downregulation of ISG15 and MT2A were reported to reduce cancer risk. Implications of the dysregulated genes for pro-inflammatory phenotypes, immunity, and cancer risk in ASD are discussed.

scholarly journals RNA Sequencing of theIn VivoHuman Herpesvirus 6B Transcriptome To Identify Targets for Clinical Assays Distinguishing between Latent and Active Infections

2018 ◽  
Vol 93 (3) ◽  
Author(s):  
Joshua A. Hill ◽  
Minako Ikoma ◽  
Danielle M. Zerr ◽  
Ryan S. Basom ◽  
Vikas Peddu ◽  
...  
Keyword(s):  
Gene Expression ◽  
Rna Sequencing ◽  
Whole Blood ◽  
Latent Infection ◽  
Human Herpesvirus ◽  
Rna Seq ◽  
Viral Dna ◽  
Blood Samples ◽  
Multiple Sample ◽  
Whole Blood Samples

ABSTRACTHuman herpesvirus 6B (HHV-6B) DNA is frequently detected in human samples. Diagnostic assays distinguishing HHV-6B reactivation from latency are limited. This has impaired strategies to diagnose and treat HHV-6B-associated diseases. We used RNA sequencing to characterize and compare the HHV-6B transcriptome in multiple sample types, including (i) whole blood from hematopoietic cell transplant (HCT) recipients with and without HHV-6B plasma viremia, (ii) tumor tissue samples from subjects with large B cell lymphoma infected with HHV-6B, (iii) lymphoblastoid cell lines (LCLs) from subjects with inherited chromosomally integrated HHV-6B or latent infection with HHV-6B, and (iv) HHV-6B Z29 infected SupT1 CD4+T cells. We demonstrated substantial overlap in the HHV-6B transcriptome observed inin vivoandin vitrosamples, although there was variability in the breadth and quantity of gene expression across samples. The HHV-6B viral polymerase gene U38 was the only HHV-6B transcript detected in all next-generation RNA sequencing (RNA-seq) data sets and was one of the most highly expressed genes. We developed a novel reverse transcription-PCR assay targeting HHV-6B U38, which identified U38 mRNA in all tested whole-blood samples from patients with concurrent HHV-6B viremia. No HHV-6B U38 transcripts were detected by RNA-seq or reverse transcription–real-time quantitative PCR (RT-qPCR) in whole-blood samples from subjects without HHV-6B plasma detection or from latently infected LCLs. A RT-qPCR assay for HHV-6B U38 may be useful to identify lytic HHV-6B infection in nonplasma samples and samples from individuals with inherited chromosomally integrated HHV-6B. This study also demonstrates the feasibility of transcriptomic analyses for HCT recipients.IMPORTANCEHuman herpesvirus 6B (HHV-6B) is a DNA virus that infects most children within the first few years of life. After primary infection, HHV-6B persists as a chronic, latent infection in many cell types. Additionally, HHV-6B can integrate into germ line chromosomes, resulting in individuals with viral DNA in every nucleated cell. Given that PCR to detect viral DNA is the mainstay for diagnosing HHV-6B infection, the characteristics of HHV-6B infection complicate efforts to distinguish between latent and active viral infection, particularly in immunocompromised patients who have frequent HHV-6B reactivation. In this study, we used RNA sequencing to characterize the HHV-6B gene expression profile in multiple sample types, and our findings identified evidence-based targets for diagnostic tests that distinguish between latent and active viral infection.

The Influence of Language Context on Repetitive Speech Use in Children With Autism Spectrum Disorder

2020 ◽  
Vol 29 (1) ◽  
pp. 327-334 ◽  
Author(s):  
Allison Gladfelter ◽  
Cassidy VanZuiden
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Individual Characteristics ◽  
Receptive Vocabulary ◽  
Spectrum Disorder ◽  
School Age Children ◽  
Social Responsiveness ◽  
Contributing Factors ◽  
Children With Asd ◽  
Language Context

Purpose Although repetitive speech is a hallmark characteristic of autism spectrum disorder (ASD), the contributing factors that influence repetitive speech use remain unknown. The purpose of this exploratory study was to determine if the language context impacts the amount and type of repetitive speech produced by children with ASD. Method As part of a broader word-learning study, 11 school-age children with ASD participated in two different language contexts: storytelling and play. Previously collected language samples were transcribed and coded for four types of repetitive speech: immediate echolalia, delayed echolalia, verbal stereotypy, and vocal stereotypy. The rates and proportions of repetitive speech were compared across the two language contexts using Wilcoxon signed-ranks tests. Individual characteristics were further explored using Spearman correlations. Results The children produced lower rates of repetitive speech during the storytelling context than the play-based context. Only immediate echolalia differed between the two contexts based on rate and approached significance based on proportion, with more immediate echolalia produced in the play-based context than in the storytelling context. There were no significant correlations between repetitive speech and measures of social responsiveness, expressive or receptive vocabulary, or nonverbal intelligence. Conclusions The children with ASD produced less immediate echolalia in the storytelling context than in the play-based context. Immediate echolalia use was not related to social skills, vocabulary, or nonverbal IQ scores. These findings offer valuable insights into better understanding repetitive speech use in children with ASD.

scholarly journals Parents’ Perceptions of Early Interventions and Related Services for Children with Autism Spectrum Disorder in Saudi Arabia

2016 ◽  
Vol 9 (10) ◽  
pp. 128 ◽  
Author(s):  
Faihan Alotaibi ◽  
Nabil Almalki
Keyword(s):  
Autism Spectrum Disorder ◽  
Saudi Arabia ◽  
Early Intervention ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Early Interventions ◽  
Related Services ◽  
Children With Asd ◽  
The Government

<p class="apa">The present study sought to examine parents’ perceptions of early interventions and related services for children with autism spectrum disorder (ASD) in Saudi Arabia. In this study a survey was distributed to a sample of 80 parents with children who have ASD. Parents also were asked open-ended questions to enable them to provide suggestions. The findings indicate that parents have varying perceptions of early interventions and related services. However, they seem to agree that these services are important in assisting their children. Accordingly, parents have suggested that the government needs to increase these services by providing more centers for children with ASD in Saudi Arabia, providing more specialists to deal with children with ASD, promoting inclusion in regular schools and providing more information on early intervention.</p>

scholarly journals Implication of the Sensory Environment in Children with Autism Spectrum Disorder: Perspectives from School

2021 ◽  
Vol 18 (14) ◽  
pp. 7670
Author(s):  
Ana Gentil-Gutiérrez ◽  
José Luis Cuesta-Gómez ◽  
Paula Rodríguez-Fernández ◽  
Jerónimo Javier González-Bernal
Keyword(s):  
Autism Spectrum Disorder ◽  
Sensory Processing ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
School Factors ◽  
Cross Sectional ◽  
Sensory Stimuli ◽  
Children With Asd

(1) Background: Children with Autism Spectrum Disorder (ASD) frequently have difficulties in processing sensory information, which is a limitation when participating in different contexts, such as school. The objective of the present study was to compare the sensory processing characteristics of children with ASD in the natural context of school through the perception of professionals in the field of education, in comparison with neurodevelopmental children (2) Methods: A cross-sectional descriptive study as conducted with study population consisting of children between three and ten years old, 36 of whom were diagnosed with ASD and attended the Autismo Burgos association; the remaining 24 had neurotypical development. The degree of response of the children to sensory stimuli at school was evaluated using the Sensory Profile-2 (SP-2) questionnaire in its school version, answered by the teachers. (3) Results: Statistically significant differences were found in sensory processing patterns (p = 0.001), in sensory systems (p = 0.001) and in school factors (p = 0.001). Children with ASD who obtained worse results. (4) Conclusions: Children with ASD are prone to present sensory alterations in different contexts, giving nonadapted behavioral and learning responses.

scholarly journals Review of Cognitive Characteristics of Autism Spectrum Disorder Using Performance on Six Subtests on Four Versions of the Wechsler Intelligence Scale for Children

2021 ◽  
Author(s):  
Mizuho Takayanagi ◽  
Yoko Kawasaki ◽  
Mieko Shinomiya ◽  
Hoshino Hiroshi ◽  
Satoshi Okada ◽  
...  
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Block Design ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Intelligence Scale ◽  
Cognitive Characteristics ◽  
Children With Asd ◽  
The Right ◽  
The Impact

AbstractThis study was a systematic review of research using the Wechsler Intelligence Scale for Children (WISC) with Autism Spectrum Disorder (ASD) to examine cognitive characteristics of children with ASD beyond the impact of revisions based on WISC and diagnostic criteria changes. The classic “islets of ability” was found in individuals with full-scale IQs < 100. The “right-descending profiles” were observed among high IQ score individuals. High levels on the Block Design and low Coding levels were consistently found regardless of the variation in intellectual functioning or diagnosis. This review identified patterns of cognitive characteristics in ASD individuals using empirical data that researchers may have previously been aware of, based on their experiences, owing to the increased prevalence of ASD.

scholarly journals A Systematic Review and Meta-Analysis of Immunoglobulin G Abnormalities and the Therapeutic Use of Intravenous Immunoglobulins (IVIG) in Autism Spectrum Disorder

2021 ◽  
Vol 11 (6) ◽  
pp. 488
Author(s):  
Daniel A Rossignol ◽  
Richard E Frye
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Immunoglobulin G ◽  
Meta Analysis ◽  
Intravenous Immunoglobulins ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Effect Sizes ◽  
Aberrant Behavior ◽  
Children With Asd

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting approximately 2% of children in the United States. Growing evidence suggests that immune dysregulation is associated with ASD. One immunomodulatory treatment that has been studied in ASD is intravenous immunoglobulins (IVIG). This systematic review and meta-analysis examined the studies which assessed immunoglobulin G (IgG) concentrations and the therapeutic use of IVIG for individuals with ASD. Twelve studies that examined IgG levels suggested abnormalities in total IgG and IgG 4 subclass concentrations, with concentrations in these IgGs related to aberrant behavior and social impairments, respectively. Meta-analysis supported possible subsets of children with ASD with low total IgG and elevated IgG 4 subclass but also found significant variability among studies. A total of 27 publications reported treating individuals with ASD using IVIG, including four prospective, controlled studies (one was a double-blind, placebo-controlled study); six prospective, uncontrolled studies; 2 retrospective, controlled studies; and 15 retrospective, uncontrolled studies. In some studies, clinical improvements were observed in communication, irritability, hyperactivity, cognition, attention, social interaction, eye contact, echolalia, speech, response to commands, drowsiness, decreased activity and in some cases, the complete resolution of ASD symptoms. Several studies reported some loss of these improvements when IVIG was stopped. Meta-analysis combining the aberrant behavior checklist outcome from two studies demonstrated that IVIG treatment was significantly associated with improvements in total aberrant behavior and irritability (with large effect sizes), and hyperactivity and social withdrawal (with medium effect sizes). Several studies reported improvements in pro-inflammatory cytokines (including TNF-alpha). Six studies reported improvements in seizures with IVIG (including patients with refractory seizures), with one study reporting a worsening of seizures when IVIG was stopped. Other studies demonstrated improvements in recurrent infections, appetite, weight gain, neuropathy, dysautonomia, and gastrointestinal symptoms. Adverse events were generally limited but included headaches, vomiting, worsening behaviors, anxiety, fever, nausea, fatigue, and rash. Many studies were limited by the lack of standardized objective outcome measures. IVIG is a promising and potentially effective treatment for symptoms in individuals with ASD; further research is needed to provide solid evidence of efficacy and determine the subset of children with ASD who may best respond to this treatment as well as to investigate biomarkers which might help identify responsive candidates.

Exploring Growth in Expressive Communication of Infants and Toddlers With Autism Spectrum Disorder

2021 ◽  
pp. 105381512199557
Author(s):  
Jay Buzhardt ◽  
Anna Wallisch ◽  
Dwight Irvin ◽  
Brian Boyd ◽  
Brenda Salley ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Progress Monitoring ◽  
Autism Spectrum ◽  
Growth Patterns ◽  
Spectrum Disorder ◽  
Future Research ◽  
Infants And Toddlers ◽  
Early Communication ◽  
Children With Asd ◽  
Language Growth

One of the earliest indicators of autism spectrum disorder (ASD) is delay in language and social communication. Despite consensus on the benefits of earlier diagnosis and intervention, our understanding of the language growth of children with ASD during the first years of life remains limited. Therefore, this study compared communication growth patterns of infants and toddlers with ASD to growth benchmarks of a standardized language assessment. We conducted a retrospective analysis of growth on the Early Communication Indicator (ECI) of 23 infants and toddlers who received an ASD diagnosis in the future. At 42 months of age, children with ASD had significantly lower rates of gestures, single words, and multiple words, but significantly higher rates of nonword vocalizations. Children with ASD had significantly slower growth of single and multiple words, but their rate of vocalization growth was significantly greater than benchmark. Although more research is needed with larger samples, because the ECI was designed for practitioners to monitor children’s response to intervention over time, these findings show promise for the ECI’s use as a progress monitoring measure for young children with ASD. Limitations and the need for future research are discussed.

Wechsler Intelligence Scale for Children, Fifth Edition Profiles of Children With Autism Spectrum Disorder Using a Classification and Regression Trees Analysis

2021 ◽  
pp. 073428292110259
Author(s):  
Brittany A. Dale ◽  
W. Holmes Finch ◽  
Kassie A. R. Shellabarger ◽  
Andrew Davis
Keyword(s):  
Autism Spectrum Disorder ◽  
Language Impairment ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Intelligence Scale ◽  
Cart Analysis ◽  
Children With Asd ◽  
Classification And Regression ◽  
Pattern Of Performance

The Wechsler Intelligence Scales for Children (WISC) are the most widely used instrument in assessing cognitive ability, especially with children with autism spectrum disorder (ASD). Previous literature on the WISC has demonstrated a divergent pattern of performance on the WISC for children ASD compared to their typically developing peers; however, there is a lack of research concerning the most recent iteration, the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V). Due to the distinctive changes made to the WISC-V, we sought to identify the pattern of performance of children with ASD on the WISC-V using a classification and regression (CART) analysis. The current study used the standardization sample data of the WISC-V obtained from NCS Pearson, Inc. Sixty-two children diagnosed with ASD, along with their demographically matched controls, comprised the sample. Results revealed the Comprehension and Letter-Number Sequencing subtests were the most important factors in predicting group membership for children with ASD with an accompanying language impairment. Children with ASD without an accompanying language impairment, however, were difficult to distinguish from matched controls through the CART analysis. Results suggest school psychologists and other clinicians should administer all primary and supplemental subtests of the WISC-V as part of a comprehensive assessment of ASD.

scholarly journals Developing a Culturally Sensitive ICF-Based Tool to Describe Functioning of Children with Autism Spectrum Disorder: TEA-CIFunciona Version 1.0 Pilot Study

2021 ◽  
Vol 18 (7) ◽  
pp. 3720
Author(s):  
Silvana B. Napoli ◽  
María Paula Vitale ◽  
Pablo J. Cafiero ◽  
María Belén Micheletti ◽  
Paula Pedernera Bradichansky ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Latin American ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
International Classification Of Functioning ◽  
Children With Asd ◽  
Practice Methods ◽  
Icf Core Sets ◽  
Family Centered

Background: Autism spectrum disorder (ASD) affects the daily functioning of children and their families; however, in Argentina, there are no standardized tools to guide the description, evaluation, and follow-up of functioning and disability of children with ASD. To fill this gap, the overarching purpose of this study was to create a novel tool guided by the International Classification of Functioning, Disability, and Health (ICF) Core Sets for ASD for clinical practice. Methods: A multistep methodology was used to identify the most relevant ICF categories for an Argentinian clinical setting. The content of this ICF-based shortlist was piloted and revised according to the results. Subsequently, a toolbox of measures was proposed to operationalize each ICF category. Finally, profiles of the functioning of 100 children with ASD were created. Results: An ICF-based tool called TEA-CIFunciona was created, consisting of 32 ICF categories (10 body functions, 15 activities and participation, 7 environmental factors categories). The application of TEA-CIFunciona incorporated a family-centered approach in ASD evaluations and helped identify functional needs. Conclusions: TEA-CIFunciona is the first ICF-based instrument that guides the description of functioning of children with ASD in Argentina. TEA-CIFunciona standardizes collaborative assessments in pediatric ASD populations in Latin American contexts.

scholarly journals Perceptions of Autism Spectrum Disorder (ASD) Etiology among Parents of Children with ASD

2021 ◽  
Vol 18 (13) ◽  
pp. 6774
Author(s):  
Wei-Ju Chen ◽  
Zihan Zhang ◽  
Haocen Wang ◽  
Tung-Sung Tseng ◽  
Ping Ma ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Content Analysis ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Parental Perceptions ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Structured Interviews ◽  
Children With Asd ◽  
Religious Factors

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and restricted or repetitive behaviors. Parental perceptions of the etiology of their child’s ASD can affect provider–client relationships, bonding between parents and their children, and the prognosis, treatment, and management of children with ASD. Thus, this study sought to examine the perceptions of ASD etiology of parents of children with ASD. Methods: Forty-two parents of children diagnosed with ASD were recruited across Texas. Semi-structured interviews were conducted individually. All interviews were recorded and later transcribed verbatim for content analysis utilizing NVivo 12.0 (QSR International, Doncaster, Australia). Results: The content analysis identified the following themes regarding parental perceptions of ASD etiology: Genetic factors (40.5%), environmental factors (31.0%), problems that occurred during pregnancy or delivery (23.8%), vaccinations (16.7%), other health problems (7.1%), parental age at the time of pregnancy (4.8%), and spiritual or religious factors (2.4%). Conclusions: The parental perceptions of ASD etiology were diverse, but several views, such as vaccinations and spiritual or religious factors, were not based on scientific evidence. Health professionals and researchers can use these findings to develop and provide targeted education to parents who have children with ASD. Our findings also support policymakers in developing campaigns designed to increase parental ASD awareness and knowledge.

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