1. Atwan H, Assarehzadegan MA, Shekarabi M, Jazayeri SM, Barfi S, Shokouhi Shoormasti R, Chimeh N, Pouretemad HR, Tayebi B. {{Assessment of miR-181b-5p, miR-23a-3p, BCL-2, and IL-6 in Peripheral Blood Mononuclear Cells of Autistic Patients; Likelihood of Reliable Biomarkers}}. {Iranian journal of allergy, asthma, and immunology}. 2020; 19(1): 74-83.
Autism is a neurodevelopmental disorder that is recognized by stereotypic and repetitive behaviors after 2 years of old. Dysregulation of the immune system, especially inflammation which is mostly regulated by IL-6, imposes a deficit in CNS development. Along with this crucial biomarker, researchers have proposed BCL-2, micro RNA-23a-3p (miR-23a-3p), miR-181b-5p as other probable biomarkers involved in inflammation and apoptosis. The aim of the study was to evaluate the alteration in the expression of these biomarkers in a group of autism spectrum disorder (ASD) children. Peripheral blood mononuclear cells (PBMCs) were obtained from 37 autistic patients. After RNA extraction with precipitation method, the Syber green qReal-time Polymerase Chain Reaction (PCR) was performed in order to evaluate the possible alteration in the expression of IL-6, BCL-2, miR-181b-5p, and miR-23a-3p. The results were compared with healthy controls. IL-6 was significantly upregulated in ASD patients (p=0.003). On the other hand, miR-23a was upregulated and BCL-2 downregulated in ASD patients but the changes were not significant. In initial evaluations, expression changes of miR-181b-5p were not statistically significant. However, when Patients were divided into two groups of upregulated and downregulated, re-evaluation showed that both up- (p=0.005) and down-regulation (p=0.004) (i.e. changes regardless of the direction) of miR-181b were significant in autistic children. IL-6 and miR-181b-5p can have proper diagnostic values and are reliable biomarkers with high sensitivity and specificity. On the other hand, PBMC can be utilized for such studies and also evaluation of patients’ condition instead of brain tissue as it is less accessible.
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2. Gomez-Perez MM, Mata S, Serrano F, Calero MD. {{Wisconsin Card Sorting Test-Learning Potential: Usefulness for Assessing Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
This study analyzes the Wisconsin Card Sorting Test-Learning Potential (WCST-LP) in children with Autism Spectrum Disorder (ASD) versus children with typical development (TD). Its main aim was to assess: the test’s construct validity; the effect of IQ on its pretest and LP scores; and whether the WCST-LP held any relationship to cognitive/EF and social abilities. Participants were 105 children (43 with ASD/62 with TD). Results showed evidence of construct validity in an ASD population (improvements from pretest to posttest), that full IQ influenced pretest performance but did not affect LP, and that a relationship between LP and verbal and social abilities existed only in children with ASD. Conclusions indicate the appropriateness of the WCST-LP in ASD prognosis assessment.
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3. Guo D, Yang X, Shi L. {{Rho GTPase Regulators and Effectors in Autism Spectrum Disorders: Animal Models and Insights for Therapeutics}}. {Cells}. 2020; 9(4).
The Rho family GTPases are small G proteins that act as molecular switches shuttling between active and inactive forms. Rho GTPases are regulated by two classes of regulatory proteins, guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Rho GTPases transduce the upstream signals to downstream effectors, thus regulating diverse cellular processes, such as growth, migration, adhesion, and differentiation. In particular, Rho GTPases play essential roles in regulating neuronal morphology and function. Recent evidence suggests that dysfunction of Rho GTPase signaling contributes substantially to the pathogenesis of autism spectrum disorder (ASD). It has been found that 20 genes encoding Rho GTPase regulators and effectors are listed as ASD risk genes by Simons foundation autism research initiative (SFARI). This review summarizes the clinical evidence, protein structure, and protein expression pattern of these 20 genes. Moreover, ASD-related behavioral phenotypes in animal models of these genes are reviewed, and the therapeutic approaches that show successful treatment effects in these animal models are discussed.
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4. Haruvi-Lamdan N, Horesh D, Zohar S, Kraus M, Golan O. {{Autism Spectrum Disorder and Post-Traumatic Stress Disorder: An unexplored co-occurrence of conditions}}. {Autism}. 2020: 1362361320912143.
People with Autism Spectrum Disorder show an increased risk of experiencing potentially traumatic events, particularly social victimization. However, Autism Spectrum Disorder and Post-Traumatic Stress Disorder co-occurrence was hardly studied. We examined exposure to potentially traumatic life events and PTSD symptoms in adults with Autism Spectrum Disorder vs typical adults. Twenty-five adults with Autism Spectrum Disorder and 25 typical adults were comparable on age and gender. Participants self-reported on potentially traumatic life events of social and non-social nature, and on PTSD symptoms related to their most distressing event. Results showed higher rates of probable-Post-Traumatic Stress Disorder in the Autism Spectrum Disorder group (32%) compared with the typical adults group (4%). Individuals with Autism Spectrum Disorder reported more PTSD symptoms, particularly re-experiencing and hyper-arousal, compared with typical adults, although the latter was elevated only in females with Autism Spectrum Disorder. Participants with Autism Spectrum Disorder, especially females, reported more negative life events, particularly social events, than typical adults. Sixty percent of Autism Spectrum Disorder participants, but only 20% of typical adults, chose a social event as their most distressing event. Individuals with Autism Spectrum Disorder and probable-Post-Traumatic Stress Disorder co-occurrence presented poorer social skills compared with those with Autism Spectrum Disorder alone. Results indicate increased vulnerability of individuals with Autism Spectrum Disorder to trauma and Post-Traumatic Stress Disorder, especially due to social stressors. Females with Autism Spectrum Disorder may be particularly vulnerable to Post-Traumatic Stress Disorder.
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5. Lallukka T, Mittendorfer-Rutz E, Ervasti J, Alexanderson K, Virtanen M. {{Unemployment Trajectories and the Early Risk of Disability Pension among Young People with and without Autism Spectrum Disorder: A Nationwide Study in Sweden}}. {Int J Environ Res Public Health}. 2020; 17(7).
Depression and anxiety are associated with unemployment and disability pension, while autism spectrum disorder (ASD) is less studied. We aimed to first identify unemployment trajectories among young adults with and without ASD, and then to examine their social determinants. Finally, we used the trajectories as determinants for subsequent disability pension. We used a population-based cohort, including 814 people who were 19-35 years old, not on disability pension, and who had their ASD diagnosis between 2001 and 2009. A matched reference population included 22,013 people with no record of mental disorders. Unemployment follow-up was the inclusion year and four years after. Disability pension follow-up started after the unemployment follow-up and continued through 2013. We identified three distinctive trajectories of unemployment during the follow-up: (1) low, then sharply increasing (9%,) (2) low (reference, 67%), and (3) high then slowly decreasing (24%). People with ASD had higher odds of belonging belong to the trajectory groups 1 (OR 2.53, 95% CI 2.02-3.18) and 3 (OR 3.60, 95% CI 3.08-4.19). However, the mean number of unemployment days was relatively low in all groups. A disability pension was a rare event in the cohort, although memberships to groups 1 and 3 were associated with the risk of a future disability pension. More knowledge is needed about factors facilitating participation in paid employment among people with ASD.
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6. Narzisi A. {{Handle the Autism Spectrum Condition During Coronavirus (COVID-19) Stay At Home period: Ten Tips for Helping Parents and Caregivers of Young Children}}. {Brain Sci}. 2020; 10(4).
COVID-19 has become pandemic […].
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7. Pecorelli A, Ferrara F, Messano N, Cordone V, Schiavone ML, Cervellati F, Woodby B, Cervellati C, Hayek J, Valacchi G. {{Alterations of mitochondrial bioenergetics, dynamics, and morphology support the theory of oxidative damage involvement in autism spectrum disorder}}. {FASEB journal : official publication of the Federation of American Societies for Experimental Biology}. 2020.
Autism spectrum disorder (ASD) has been hypothesized to be a result of the interplay between genetic predisposition and increased vulnerability to early environmental insults. Mitochondrial dysfunctions appear also involved in ASD pathophysiology, but the mechanisms by which such alterations develop are not completely understood. Here, we analyzed ASD primary fibroblasts by measuring mitochondrial bioenergetics, ultrastructural and dynamic parameters to investigate the hypothesis that defects in these pathways could be interconnected phenomena responsible or consequence for the redox imbalance observed in ASD. High levels of 4-hydroxynonenal protein adducts together with increased NADPH (nicotinamide adenine dinucleotide phosphateoxidase) activity and mitochondrial superoxide production coupled with a compromised antioxidant response guided by a defective Nuclear Factor Erythroid 2-Related Factor 2 pathway confirmed an unbalanced redox homeostasis in ASD. Moreover, ASD fibroblasts showed overactive mitochondrial bioenergetics associated with atypical morphology and altered expression of mitochondrial electron transport chain complexes and dynamics-regulating factors. We suggest that many of the changes observed in mitochondria could represent compensatory mechanisms by which ASD cells try to adapt to altered energy demand, possibly resulting from a chronic oxinflammatory status.
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8. Pejhan S, Mok Siu V, Ang LC, Del Bigio MR, Rastegar M. {{Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: A distinct grey-white matter variation}}. {Neuropathology and applied neurobiology}. 2020.
INTRODUCTION AND OBJECTIVES: Rett Syndrome (RTT) is a neurodevelopmental disorder caused by Methyl CpG Binding Protein 2 (MECP2) gene mutations. Previous studies of MeCP2 in the human brain showed variable and inconsistent mosaic-pattern immunolabelling, which has been interpreted as a reflection of activation-state variability. We aimed to study post-mortem MeCP2 and BDNF (MeCP2 target) degradation and brain region-specific detection in relation to RTT pathophysiology. METHODS: We investigated MeCP2 and BDNF stabilities in non-RTT human brains by immunohistochemical labelling and compared them in three brain regions of RTT and controls. RESULTS: In surgically excised samples of human hippocampus and cerebellum, MeCP2 was universally detected. There was no significantly obvious difference between males and females. However, post-mortem delay in autopsy samples had substantial influence on MeCP2 detection. Immunohistochemistry studies in RTT patients showed lower MeCP2 detection in glial cells of the white matter. Glial fibrillary acidic protein (GFAP) expression was also reduced in RTT brain samples without obvious change in myelin basic protein (MBP). Neurons did not show any noticeable decrease in MeCP2 detection. BDNF immunohistochemical detection showed an astroglial/endothelial pattern without noticeable difference between RTT and controls. CONCLUSIONS: Our findings indicate that MeCP2 protein is widely expressed in mature human brain cells at all ages. However, our data points towards a possible white matter abnormality in RTT and highlights the importance of studying human RTT brain tissues in parallel with research on animal and cell models of RTT.
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9. Yakubova G, Hughes EM, Chen BB. {{Teaching students with ASD to solve fraction computations using a video modeling instructional package}}. {Res Dev Disabil}. 2020; 101: 103637.
BACKGROUND: With the surge of intervention research examining ways of supporting students with autism spectrum disorder (ASD) in inclusive settings, there remains a need to examine how technology supports could enhance students’ learning by offering one size fits one instruction. Furthermore, intervention studies focused on teaching students with ASD how to solve fractions are scarce. AIMS: The purpose of this research study was to examine the effects of providing instruction via video modeling (VM), concrete manipulatives, a self-monitoring checklist, and practice for comprehension check on the accuracy of fraction problem solving of three middle school students with ASD. METHODS AND PROCEDURES: Through the use of single-case multiple probe across students experimental design, we examined whether a functional relation existed between the intervention and students’ improved accuracy of solving simple proper fraction problems. OUTCOMES AND RESULTS: All three students improved the accuracy of solving simple proper fraction problems from baseline to intervention sessions and two students generalized the skill to solving whole proper fraction problems. CONCLUSIONS AND IMPLICATIONS: The intervention consisting of VM and concrete manipulatives along with additional behavioral strategies offers an option for teachers to accommodate diverse learning needs of students with ASD in a variety of settings.
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10. Yoon SH, Choi J, Lee WJ, Do JT. {{Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder}}. {J Clin Med}. 2020; 9(4).
Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by difficulties in social interaction, language development delays, repeated body movements, and markedly deteriorated activities and interests. Environmental factors, such as viral infection, parental age, and zinc deficiency, can be plausible contributors to ASD susceptibility. As ASD is highly heritable, genetic risk factors involved in neurodevelopment, neural communication, and social interaction provide important clues in explaining the etiology of ASD. Accumulated evidence also shows an important role of epigenetic factors, such as DNA methylation, histone modification, and noncoding RNA, in ASD etiology. In this review, we compiled the research published to date and described the genetic and epigenetic epidemiology together with environmental risk factors underlying the etiology of the different phenotypes of ASD.
