1. Algothmi K, Alqurashi A, Alrofaidi A, Alharbi M, Farsi R, Alburae N, Ganash M, Azhari S, Basingab F, Almuhammadi A, Alqosaibi A, Alkhatabi H, Elaimi A, Jan M, Aldhalaan H, Alrafiah A, Alhazmi S. DNA Methylation Level of Transcription Factor Binding Site in the Promoter Region of Acyl-CoA Synthetase Family Member 3 (ACSF3) in Saudi Autistic Children. Pharmacogenomics and personalized medicine. 2022; 15: 131-42.

BACKGROUND: DNA methylation (DNAm) is one of the main epigenetic mechanisms that affects gene expression without changing the underlying DNA sequence. Aberrant DNAm has an implication in different human diseases such as cancer, schizophrenia, and autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder that affects behavior, learning, and communication skills. Acyl-CoA synthetase family member 3 (ACSF3) encodes malonyl-CoA synthetase that is involved in the synthesis and oxidation of fatty acids. The dysregulation in such gene has been reported in combined malonic and methylmalonic aciduria associated with neurological symptoms such as memory problems, psychiatric diseases, and/or cognitive decline. This research aims to study DNAm in the transcription factor (TF) binding site of ACSF3 in Saudi autistic children. To determine whether the DNAm of the TF-binding site is a cause or a consequence of transcription regulation of ACSF3. METHODS: RT-qPCR and DNA methylight qPCR were used to determine the expression and DNAm level in the promoter region of ACSF3, respectively. DNA and RNA were extracted from 19 cases of ASD children and 18 control samples from their healthy siblings. RESULTS: The results showed a significant correlation between the gene expression of ACSF3 and specificity protein 1 (SP1) in 17 samples of ASD patients, where both genes were upregulated in 9 samples and downregulated in 8 samples. CONCLUSION: Although this study found no DNAm in the binding site of SP1 within the ACSF3 promoter, the indicated correlation highlights a possible role of ACSF3 and SP1 in ASD patients.

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2. Al-Oran H, Khuan L, Ying LP, Hassouneh O. Coping Mechanism among Parents of Children with Autism Spectrum Disorder: A Review. Iranian journal of child neurology. 2022; 16(1): 9-17.

This review presented the current literature on coping mechanisms among parents of children with autism spectrum disorder (ASD), focusing on types of coping mechanisms among parents and different coping mechanisms between mothers and fathers of children with ASD. A search of published literature in English was conducted using Google Scholar, PsycINFO, Medline, Scopus, CINAHL, EBSCO, Springer, Ovid, PubMed, and Cochrane Library up to February 2020. Overall, 18 articles were relevant to the review. The review included thirteen studies for types of coping mechanisms among parents of children with ASD and five studies for different coping mechanisms between mothers and fathers. Coping mechanisms demonstrated by parents when caring for their child include problem-focused and emotion-focused coping. A comparison between fathers and mothers in our review showed that mothers used emotion-focused coping more than fathers, while fathers used problem-focused coping more frequently than mothers. The review provides an exciting opportunity to advance our knowledge on types of coping mechanisms and gender difference in using coping mechanisms among parents of children with ASD. The review also sheds new light on developing supportive interventions by healthcare providers to improve coping mechanisms among parents of children with ASD.

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3. Chapple M, Davis P, Billington J, Williams S, Corcoran R. Challenging Empathic Deficit Models of Autism Through Responses to Serious Literature. Frontiers in psychology. 2022; 13: 828603.

Dominant theoretical models of autism and resultant research enquiries have long centered upon an assumed autism-specific empathy deficit. Associated empirical research has largely relied upon cognitive tests that lack ecological validity and associate empathic skill with heuristic-based judgments from limited snapshots of social information. This artificial separation of thought and feeling fails to replicate the complexity of real-world empathy, and places socially tentative individuals at a relative disadvantage. The present study aimed to qualitatively explore how serious literary fiction, through its ability to simulate real-world empathic response, could therefore enable more ecologically valid insights into the comparative empathic experiences of autistic and non-autistic individuals. Eight autistic and seven non-autistic participants read Of Mice and Men for six days while completing a semi-structured reflective diary. On finishing the book, participants were asked to engage in three creative writing tasks that encouraged reflective thinking across the novel. Thematic and literary analysis of the diary reflections and writing tasks revealed three main themes (1) Distance from the Novel; (2) Mobility of Response; (3) Re-Creating Literature. Findings demonstrated the usefulness of serious literature as a research tool for comparing the empathic experiences of autistic and non-autistic individuals. Specifically, autistic individuals often showed enhanced socio-empathic understandings of the literature with no empathy deficits when compared to non-autistic participants.

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4. Deng W, Ke H, Wang S, Li Z, Li S, Lv P, Li F, Chen Y. Metformin Alleviates Autistic-Like Behaviors Elicited by High-Fat Diet Consumption and Modulates the Crosstalk Between Serotonin and Gut Microbiota in Mice. Behavioural neurology. 2022; 2022: 6711160.

The biological mechanisms linking diet-related obesity and autistic behaviors remain unclear. Metformin has proven to be beneficial in the treatment of many syndromes, including autism spectrum disorder. Therefore, the aim of this study was to assess whether metformin treatment could ameliorate metabolic and behavioral alterations in C57BL/6 mice kept on a high-fat diet (HFD), and whether these changes were related to modifications in the gut microbiota and 5-HT levels. As expected, ten weeks of HFD ingestion increased body weight, adiposity, and glucose levels. HFD-fed mice showed a marked aggravation of repetitive behaviors (marble burying and self-grooming), and this was prevented by metformin administration. In addition, HFD-fed mice increased the total distance travelled in the open field test. This hyperactivity was counteracted by metformin cotreatment. In the elevated plus maze test, HFD-fed mice showed a reduced number of entries into the open arms. Interestingly, both HFD and metformin cotreatment increased social interactions in the three-chamber test. HFD increased the levels of intestinal tryptophan and 5-hydroxyindoleacetic acid. Metformin stimulated gut tryptophan and promoted the synthesis of 5-HT in the HFD group. Lactococcus, Trichococcus, Romboutsia, and Faecalibaculum were enriched in HFD-fed mice, whereas the HFD group cotreated with metformin was enriched in Intestinimonas and L. reuteri. Faecalibacterium was positively correlated with sociability and 5-HT pathway components in mice that received metformin. In summary, HFD consumption elicited a complex phenotype comprising higher levels of anxiety-like and repetitive behaviors but also increased sociability. Metformin could potentially improve HFD-induced disorders in the autistic spectrum through a mechanism involving positive modulation of 5-HT levels in the gut and its microbiota composition.

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5. Fazeli Z, Ghaderian SMH, Najmabadi H, Omrani MD. Understanding the Molecular Basis of Fragile X Syndrome Using Differentiated Mesenchymal Stem Cells. Iranian journal of child neurology. 2022; 16(1): 85-95.

OBJECTIVES: Fragile X syndrome (FXS) has been known as the most common cause of inherited intellectual disability and autism. This disease results from the loss of fragile X mental retardation protein expression due to the expansion of CGG repeats located on the 5′ untranslated region of the fragile X mental retardation 1 (FMR1) gene. MATERIALS & METHODS: In the present study, the peripheral blood-mesenchymal stem cells (PB-MSCs) of two female full mutation carriers were differentiated into neuronal cells by the suppression of bone morphogenesis pathway signaling. Then, the expression of genes adjacent to CGG repeats expansion, including SLIT and NTRK-like protein 2 (SLITRK2), SLIT and NTRK-like protein 4 (SLITRK4), methyl CpG binding protein 2 (MECP2), and gamma-aminobutyric acid receptor subunit alpha-3 (GABRA3), were evaluated in these cells using SYBR Green real-time polymerase chain reaction. RESULTS: The obtained results indicated that the expression of SLITRK2 and SLITRK4 were upregulated and downregulated in the neuron-like cells differentiated from the PB-MSCs of females with FMR1 full mutation, compared to that of the normal females, respectively. Furthermore, the expression of MECP2 and GABRA3 genes were observed to be related to the phenotypic differences observed in the female FMR1 full mutation carriers. CONCLUSION: The observed association of expression of genes located upstream of the FMR1 gene with phenotypic differences in the female carriers could increase the understanding of novel therapeutic targets for patients with mild symptoms of FXS and the patients affected by other FMR1-related disorders.

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6. Freitas Ramos S, França G. Adults with Autism Spectrum Disorders, from Child Psychiatry Departments to Forensic Psychiatry Units: An Embarrassing Trajectory?. Acta medica portuguesa. 2022; 35(2): 158.

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7. Guo J, Li D. Effects of Image-Sandplay Therapy on the Mental Health and Subjective Well-Being of Children with Autism. Iranian journal of public health. 2021; 50(10): 2046-54.

BACKGROUND: Autism significantly affects mental health and lowers subjective well-being (SWB). The rehabilitation therapy of autism is attracting widespread attention. We aimed to explore the effects of image-sandplay therapy on the mental health and SWB of children with autism. METHODS: A total of 90 children with autism treated in Changchun Women and Children Health Hospital from Jan 2019 to Jun 2020 were enrolled by convenient sampling method. They were randomly divided into control (n=45) and observation (n=45) groups. The observation group had a 12-week image-sandplay therapy based on conventional rehabilitation therapy. In the image-sandplay therapy, the one-to-one intervention was provided once a week, 60 min in each. Autism treatment evaluation checklist (ATEC), autism behavior checklist (ABC), Conners parent symptom questionnaire (PSQ), satisfaction with life scale (SWLS), and positive and negative affect scale for children (PANAS-C) of the two groups were assessed. RESULTS: After intervention, the observation group showed lower scores in ATEC scale and ABC scale than the control group, and the difference show statistical significance (P<0.05). Meanwhile, the observation group showed significantly lower scores in PSQ scale than the control group, showing a significant difference (P<0.05). The observation group shows higher scores in SWLS scale and positive affect scores than the control group, as well as significantly lower negative affected scores than the control groups, showing a significant difference (P<0.05). CONCLUSION: Image-sandplay therapy can improve the symptoms of children with autism and is conducive to promoting mental health and increasing SWB. It is a feasible and effective rehabilitation method.

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8. Ito H, Inoue M. Parent-Mediated Toilet Training for a Child with Autism Spectrum Disorder through Teleconsultation: A Case Report. Yonago acta medica. 2022; 65(1): 90-5.

In defecation training, parent-mediated intervention via teleconsultation is helpful because the number of instructions for establishing defecation habits is limited. In the case report of the present study, defecation training was conducted based on gradual target setting and differential reinforcement through teleconsultation via email for a Caucasian 5-year-old boy with autism spectrum disorder (ASD) who lived in Greece. As a result of the intervention, namely the gradual target setting and differential reinforcement, in-bowl defecations increased at home.

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9. Martelle SN, Namazi M. Feeling Thrown for a Loop? The Effects of Inferencing on Spoken Language Idiom Comprehension in Autism. Language, speech, and hearing services in schools. 2022; 53(2): 584-97.

PURPOSE: The aim of this review is to illuminate the connection between inferential skills and spoken language idiom comprehension (SLIC) with a focus on autism. Idioms are frequently occurring figurative expressions, such as feeling blue, on cloud nine, and all tied up, that have literal and nonliteral meanings. METHOD: In this review article, an overview of SLIC is provided, highlighting the importance of inferential skills and other pertinent factors and theories contributing to idiom acquisition in autistic children. The search criteria used included peer-reviewed journal articles from 1982 to 2021 to synthesize both seminal and current research on this topic. Though some articles selected for this review did not focus on idioms in spoken language, they were deemed necessary for analyzing various aspects impacting idiom development and comprehension. RESULTS: Research shows that figurative language differences are a hallmark feature of autism, causing idioms to be interpreted literally. Occurring in everyday spoken and written language, idiom comprehension is essential for adequate communication in daily interactions. Poor inferential abilities directly impact SLIC and have negative implications on social and academic outcomes. Several factors contributing to SLIC have been highlighted in the literature, including transparency (semantic analyzability), familiarity, and context. CONCLUSIONS: The comparable skills underpinning inferential comprehension and SLIC raise the argument that SLIC is incumbent upon intact inferential abilities. As such, autistic children will benefit from utilizing inference from context to deduce idiomatic meanings. Future directions for research and recommendations for improving SLIC in clinical practice are offered.

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10. Mpoulimari I, Zintzaras E. Identification of Chromosomal Regions Linked to Autism-Spectrum Disorders: A Meta-Analysis of Genome-Wide Linkage Scans. Genetic testing and molecular biomarkers. 2022; 26(2): 59-69.

Background: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of pervasive neurodevelopmental disorders with a strong hereditary component. Although, genome-wide linkage scans (GWLS) and association studies (GWAS) have previously identified hundreds of ASD risk gene loci, the results remain inconclusive. Method: We performed a heterogeneity-based genome search meta-analysis (HEGESMA) of 15 genome scans of autism and ASD. Results: For strictly defined autism, data were analyzed across six separate genome scans. Region 7q22-q34 reached statistical significance in both weighted and unweighted analyses, with evidence of significantly low between-scan heterogeneity. For ASDs (data from 12 separate scans), chromosomal regions 5p15.33-5p15.1 and 15q22.32-15q26.1 reached significance in both weighted and unweighted analyses but did not reach significance for either low or high heterogeneity. Region 1q23.2-1q31.1 was significant in unweighted analyses with low between-scan heterogeneity. Finally, region 8p21.1-8q13.2 reached significant linkage peak in all our meta-analyses. When we combined all available genome scans (15), the same results were produced. Conclusions: This meta-analysis suggests that these regions should be further investigated for autism susceptibility genes, with the caveat that autism spectrum disorders have different linkage signals across genome scans, possibly because of the high genetic heterogeneity of the disease.

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11. Sato A, Kotajima-Murakami H, Tanaka M, Katoh Y, Ikeda K. Influence of Prenatal Drug Exposure, Maternal Inflammation, and Parental Aging on the Development of Autism Spectrum Disorder. Frontiers in psychiatry. 2022; 13: 821455.

Autism spectrum disorder (ASD) affects reciprocal social interaction and produces abnormal repetitive, restrictive behaviors and interests. The diverse causes of ASD are divided into genetic alterations and environmental risks. The prevalence of ASD has been rising for several decades, which might be related to environmental risks as it is difficult to consider that the prevalence of genetic disorders related to ASD would increase suddenly. The latter includes (1) exposure to medications, such as valproic acid (VPA) and selective serotonin reuptake inhibitors (SSRIs) (2), maternal complications during pregnancy, including infection and hypertensive disorders of pregnancy, and (3) high parental age. Epidemiological studies have indicated a pathogenetic role of prenatal exposure to VPA and maternal inflammation in the development of ASD. VPA is considered to exert its deleterious effects on the fetal brain through several distinct mechanisms, such as alterations of γ-aminobutyric acid signaling, the inhibition of histone deacetylase, the disruption of folic acid metabolism, and the activation of mammalian target of rapamycin. Maternal inflammation that is caused by different stimuli converges on a higher load of proinflammatory cytokines in the fetal brain. Rodent models of maternal exposure to SSRIs generate ASD-like behavior in offspring, but clinical correlations with these preclinical findings are inconclusive. Hypertensive disorders of pregnancy and advanced parental age increase the risk of ASD in humans, but the mechanisms have been poorly investigated in animal models. Evidence of the mechanisms by which environmental factors are related to ASD is discussed, which may contribute to the development of preventive and therapeutic interventions for ASD.

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12. Sun C, Zhao Z, Cheng L, Tian R, Zhao W, Du J, Zhang Y, Wang C. Effect of Transcranial Direct Current Stimulation on the Mismatch Negativity Features of Deviated Stimuli in Children With Autism Spectrum Disorder. Frontiers in neuroscience. 2022; 16: 721987.

Autism spectrum disorder (ASD) is a devastating mental disorder in children. Currently, there is no effective treatment for ASD. Transcranial direct current stimulation (tDCS), which is a non-invasive brain stimulation neuromodulation technology, is a promising method for the treatment of ASD. However, the manner in which tDCS changes the electrophysiological process in the brain is still unclear. In this study, we used tDCS to stimulate the dorsolateral prefrontal cortex area of children with ASD (one group received anode tDCS, and the other received sham tDCS) and investigated the changes in evoked EEG signals and behavioral abilities before and after anode and sham stimulations. In addition to tDCS, all patients received conventional rehabilitation treatment. Results show that although conventional treatment can effectively improve the behavioral ability of children with ASD, the use of anode tDCS with conventional rehabilitation can boost this improvement, thus leading to increased treatment efficacy. By analyzing the electroencephalography pre- and post-treatment, we noticed a decrease in the mismatch negativity (MMN) latency and an increase in the MMN amplitude in both groups, these features are considered similar to MMN features from healthy children. However, no statistical difference between the two groups was observed after 4 weeks of treatment. In addition, the MMN features correlate well with the aberrant behavior checklist (ABC) scale, particularly the amplitude of MMN, thus suggesting the feasibility of using MMN features to assess the behavioral ability of children with ASD.

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13. Zhang Y, Zhang C, Cheng L, Qi M. The Use of Deep Learning-Based Gesture Interactive Robot in the Treatment of Autistic Children Under Music Perception Education. Frontiers in psychology. 2022; 13: 762701.

The purpose of this study was to apply deep learning to music perception education. Music perception therapy for autistic children using gesture interactive robots based on the concept of educational psychology and deep learning technology is proposed. First, the experimental problems are defined and explained based on the relevant theories of pedagogy. Next, gesture interactive robots and music perception education classrooms are studied based on recurrent neural networks (RNNs). Then, autistic children are treated by music perception, and an electroencephalogram (EEG) is used to collect the music perception effect and disease diagnosis results of children. Due to significant advantages of signal feature extraction and classification, RNN is used to analyze the EEG of autistic children receiving different music perception treatments to improve classification accuracy. The experimental results are as follows. The analysis of EEG signals proves that different people have different perceptions of music, but this difference fluctuates in a certain range. The classification accuracy of the designed model is about 72-94%, and the average classification accuracy is about 85%. The average accuracy of the model for EEG classification of autistic children is 85%, and that of healthy children is 84%. The test results with similar models also prove the excellent performance of the design model. This exploration provides a reference for applying the artificial intelligence (AI) technology in music perception education to diagnose and treat autistic children.

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14. Zhao F, Han Z, Cheng D, Mao N, Chen X, Li Y, Fan D, Liu P. Hierarchical Synchronization Estimation of Low- and High-Order Functional Connectivity Based on Sub-Network Division for the Diagnosis of Autism Spectrum Disorder. Frontiers in neuroscience. 2021; 15: 810431.

Functional connectivity network (FCN) calculated by resting-state functional magnetic resonance imaging (rs-fMRI) plays an increasingly important role in the exploration of neurologic and mental diseases. Among the presented researches, the method of constructing FCN based on Matrix Variate Normal Distribution (MVND) theory provides a novel perspective, which can capture both low- and high-order correlations simultaneously with a clear mathematical interpretability. However, when fitting MVND model, the dimension of the parameters (i.e., population mean and population covariance) to be estimated is too high, but the number of samples is relatively quite small, which is insufficient to achieve accurate fitting. To address the issue, we divide the brain network into several sub-networks, and then the MVND based FCN construction algorithm is implemented in each sub-network, thus the spatial dimension of MVND is reduced and more accurate estimates of low- and high-order FCNs is obtained. Furthermore, for making up the functional connectivity which is lost because of the sub-network division, the rs-fMRI mean series of all sub-networks are calculated, and the low- and high-order FCN across sub-networks are estimated with the MVND based FCN construction method. In order to prove the superiority and effectiveness of this method, we design and conduct classification experiments on ASD patients and normal controls. The experimental results show that the classification accuracy of « hierarchical sub-network method » is greatly improved, and the sub-network found most related to ASD in our experiment is consistent with other related medical researches.

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