1. Antezana L, Coffman MC, DiCriscio AS, Richey JA. Effects of nonsocial and circumscribed interest images on neural mechanisms of emotion regulation in autistic adults. Frontiers in behavioral neuroscience. 2022; 16: 1057736.

INTRODUCTION: Emotion dysregulation is commonly reported among autistic individuals. Prior work investigating the neurofunctional mechanisms of emotion regulation (ER) in autistic adults has illustrated alterations in dorsolateral prefrontal cortex (dlPFC) activity, as well as concurrent atypical patterns of activation in subcortical regions related to affect during cognitive reappraisal of social images. Whereas most research examining ER in autism has focused on regulation of negative emotions, the effects of regulating positive emotions has been generally understudied. This is surprising given the relevance of positive motivational states to understanding circumscribed interests (CI) in autism. METHODS: Accordingly, the purpose of this study was to use fMRI with simultaneous eye-tracking and pupillometry to investigate the neural mechanisms of ER during passive viewing and cognitive reappraisal of a standardized set of nonsocial images and personalized (self-selected) CI images. RESULTS: The autistic group demonstrated comparatively reduced modulation of posterior cingulate cortex (PCC) activation during cognitive reappraisal of CI images compared to viewing of CI, although no eye-tracking/pupillometry differences emerged between-groups. Further, the autistic group demonstrated increased PCC connectivity with left lateral occipital and right supramarginal areas when engaging in cognitive reappraisal vs. viewing CI. DISCUSSION: In autistic adults, CI may be differentially modulated via PCC. Considering the documented role of the PCC as a core hub of the default mode network, we further postulate that ER of CI could potentially be related to self-referential cognition.

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2. Cao C, Li Q, Chen Y, Zou M, Sun C, Li X, Wu L. Untargeted Metabolomic Analysis Reveals the Metabolic Disturbances and Exacerbation of Oxidative Stress in the Cerebral Cortex of a BTBR Mouse Model of Autism. Journal of molecular neuroscience : MN. 2022.

The etiology and pathology of autism spectrum disorders (ASDs) are still poorly understood, which largely limit the treatment and diagnosis of ASDs. Emerging evidence supports that abnormal metabolites in the cerebral cortex of a BTBR mouse model of autism are involved in the pathogenesis of autism. However, systematic study on global metabolites in the cerebral cortex of BTBR mice has not been conducted. The current study aims to characterize metabolic changes in the cerebral cortex of BTBR mice by using an untargeted metabolomic approach based on UPLC-Q-TOF/MS. C57BL/6 J mice were used as a control group. A total of 14 differential metabolites were identified. Compared with the control group, the intensities of PI(16:0/22:5(4Z,7Z,10Z,13Z,16Z)), PC(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/18:1(9Z)), PA(16:0/18:1(11Z)), 17-beta-estradiol-3-glucuronide, and N6,N6,N6-trimethyl-L-lysine decreased significantly (p < 0.01) and the intensities of 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline, LysoPC(20:4(5Z,8Z,11Z,14Z)/0:0), adenosine monophosphate, adenosine-5'-phosphosulfate, LacCer(d18:1/12:0),3-dehydro-L-gulonate, N-(1-deoxy-1-fructosyl)tryptophan, homovanillic acid, and LPA(0:0/18:1(9Z)) increased significantly (p < 0.01) in the BTBR group. These changes in metabolites were closely related to perturbations in lipid metabolism, energy metabolism, purine metabolism, sulfur metabolism, amino acid metabolism, and carnitine biosynthesis. Notably, exacerbation of the oxidative stress response caused by differential prooxidant metabolites led to alteration of antioxidative systems in the cerebral cortex and resulted in mitochondrial dysfunction, further leading to abnormal energy metabolism as an etiological mechanism of autism. A central role of abnormal metabolites in neurological functions associated with behavioral outcomes and disturbance of sulfur metabolism and carnitine biosynthesis were found in the cerebral cortex of BTBR mice, which helped increase our understanding for exploring the pathological mechanism of autism.

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3. Erdogan MA, Bozkurt MF, Erbas O. Effects of prenatal testosterone exposure on the development of autism-like behaviours in offspring of Wistar rats. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2022.

BACKGROUND: A neurodevelopmental disease, autism spectrum disorder (ASD) occurs in males three times more commonly than girls. Higher prenatal testosterone exposure may result in autistic-like behaviour in boys, according to earlier research. It is unclear how fetal testosterone affects the development of autism. In this study, we tested the hypothesis that prenatal testosterone exposure in an animal model may result in autistic behaviors by modifying seratonin, dopamine, IGF-1, and oxytocin levels. MATERIALS AND METHODS: Group 1 (control, n = 6) and Group 2 (testosterone undecanoate, n = 6) of female rats were randomly assigned. For two to three days during the oestrus cycle, female rats were housed with a reproductive male (three females/one male). On the tenth day of gestation, rats in Group 1 received 1 ml/kg% 0.9 NaCl saline whereas rats in Group 2 received 250 mg/kg testosterone undecanoate. Until weaning on postnatal day 21 (P21), the mothers were permitted to care for their pups. On P21, 40 littermates-10 male and female for control, 10 male and female from mothers that exposed to testosterone-were arbitrarily split up and housed. On P50, these mature rats were tested for their behavior. The rats were then sacrificed. The brain tissue was subjected to histological examinations as well as biochemical tests for homovanillic acid (HVA), 5-Hydroxyindoleacetic acid (5-HIAA), oxytocin and Insulin-like growth factor-1 (IGF-1). RESULTS: The groups differed significantly in the behavioral examinations (three-chamber social test, passive avoidance learning analysis, open field test), with the testosterone-exposed groups exhibiting autistic symptoms to a higher extent. When compared to the control groups, testosterone exposure caused significant histological changes in the hippocampus CA1 and CA3 areas, including gliosis and cell death of neurons. In the testosterone-exposed groups, HVA, 5-HIAA and IGF-1 tissue expressions in the brain elevated whereas oxytocin levels reduced. These findings point to a potential connection between neurodevelopmental disorders like ASD and exposure to testosterone during gestation. CONCLUSION: Overall, we revealed that prenatal testosterone exposure led to autistic traits by elevating seratonin, dopamine, and IGF-1 levels while lowering oxytocin levels.

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4. Gates JA, Gerber AH, Miller CE, Lerner MD. Quantifying social skill deficits and strengths profiles in autistic youth. Child development. 2022.

While social difficulties in autism are well-established, questions remain regarding whether these represent challenges in acquiring or performing such skills, reduced social strengths, or a unique distribution across these domains (i.e., social profile). This study empirically derived social profiles of 211 autistic and non-autistic youth (M(age) = 13.50; Autistic N = 150; Male N = 151; 85.3% White). Assessments occurred between 2016 and 2020. Results showed that autistic youth exhibit significantly more social acquisition and performance deficits and fewer strengths than nonautistic youth (ds = -.44 to .65). Performance deficits were most-and acquisition deficits least-prominent within autistic profiles, potentially implicating longstanding theoretical models of social difficulties in autism, and supporting new, idiographic approaches for conceptualizing, assessing, and treating social challenges.

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5. Guo X, Zhai G, Liu J, Cao Y, Zhang X, Cui D, Gao L. Inter-individual heterogeneity of functional brain networks in children with autism spectrum disorder. Molecular autism. 2022; 13(1): 52.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical heterogeneity. This study aimed to explore the heterogeneity of ASD based on inter-individual heterogeneity of functional brain networks. METHODS: Resting-state functional magnetic resonance imaging data from the Autism Brain Imaging Data Exchange database were used in this study for 105 children with ASD and 102 demographically matched typical controls (TC) children. Functional connectivity (FC) networks were first obtained for ASD and TC groups, and inter-individual deviation of functional connectivity (IDFC) from the TC group was then calculated for each individual with ASD. A k-means clustering algorithm was used to obtain ASD subtypes based on IDFC patterns. The FC patterns were further compared between ASD subtypes and the TC group from the brain region, network, and whole-brain levels. The relationship between IDFC and the severity of clinical symptoms of ASD for ASD subtypes was also analyzed using a support vector regression model. RESULTS: Two ASD subtypes were identified based on the IDFC patterns. Compared with the TC group, the ASD subtype 1 group exhibited a hypoconnectivity pattern and the ASD subtype 2 group exhibited a hyperconnectivity pattern. IDFC for ASD subtype 1 and subtype 2 was found to predict the severity of social communication impairments and the severity of restricted and repetitive behaviors in ASD, respectively. LIMITATIONS: Only male children were selected for this study, which limits the ability to study the effects of gender and development on ASD heterogeneity. CONCLUSIONS: These results suggest the existence of subtypes with different FC patterns in ASD and provide insight into the complex pathophysiological mechanism of clinical manifestations of ASD.

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6. Haddad Derafshi B, Danko T, Chanda S, Batista PJ, Litzenburger U, Lee QY, Ng YH, Sebin A, Chang HY, Südhof TC, Wernig M. The autism risk factor CHD8 is a chromatin activator in human neurons and functionally dependent on the ERK-MAPK pathway effector ELK1. Scientific reports. 2022; 12(1): 22425.

The chromodomain helicase DNA-binding protein CHD8 is the most frequently mutated gene in autism spectrum disorder. Despite its prominent disease involvement, little is known about its molecular function in the human brain. CHD8 is a chromatin regulator which binds to the promoters of actively transcribed genes through genomic targeting mechanisms which have yet to be fully defined. By generating a conditional loss-of-function and an endogenously tagged allele in human pluripotent stem cells, we investigated the molecular function and the interaction of CHD8 with chromatin in human neurons. Chromatin accessibility analysis and transcriptional profiling revealed that CHD8 functions as a transcriptional activator at its target genes in human neurons. Furthermore, we found that CHD8 chromatin targeting is cell context-dependent. In human neurons, CHD8 preferentially binds at ETS motif-enriched promoters. This enrichment is particularly prominent on the promoters of genes whose expression significantly changes upon the loss of CHD8. Indeed, among the ETS transcription factors, we identified ELK1 as being most highly correlated with CHD8 expression in primary human fetal and adult cortical neurons and most highly expressed in our stem cell-derived neurons. Remarkably, ELK1 was necessary to recruit CHD8 specifically to ETS motif-containing sites. These findings imply that ELK1 and CHD8 functionally cooperate to regulate gene expression and chromatin states at MAPK/ERK target genes in human neurons. Our results suggest that the MAPK/ERK/ELK1 axis potentially contributes to the pathogenesis caused by CHD8 mutations in human neurodevelopmental disorders.

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7. Haratizadeh S, Ranjbar M, Darvishzadeh-Mahani F, Basiri M, Nozari M. The effects of postnatal erythropoietin and nano-erythropoietin on behavioral alterations by mediating K-Cl co-transporter 2 in the valproic acid-induced rat model of autism. Developmental psychobiology. 2023; 65(1): e22353.

In this study, based on the excitatory/inhibitory imbalance theory of autism, the time window of GABA switch, the role of K-Cl co-transporter 2 (KCC2) in adjustment GABA switch, and brain permeability to erythropoietin (EPO), the effects of postnatal -EPO and- nano- erythropoietin (NEPO) have been evaluated in the valproic acid (VPA) rat model of autism. The VPA was administered for animal modeling of autism at gestational day (GD) 12.5 (600 mg/kg). Male offsprings were injected with EPO and NEPO in a clinically proper postnatal dosing regimen on postnatal days (PND) 1-5, and autistic-like behaviors were tested at the end of the first month. Then animals were sacrificed, and neuron morphology and KCC2 expression were examined by Nissl staining and Western blot. According to our findings, high-dose NEPO improved autism-associated phenotypes. Neuroprotective effects of EPO and NEPO have been shown in the hippocampus. Postnatal NEPO treatment reversed KCC2 expression abnormalities induced by prenatal VPA. Our results might support the role of KCC2 in ASD and the excitatory/inhibitory imbalance hypothesis. We suggested Nano- erythropoietin and other KCC2 interventions as a new approach to the early treatment and prevention of autism.

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8. Hong JS, Perrin J, Singh V, Kalb L, Cross EA, Wodka E, Richter C, Landa R. Psychometric Evaluation of the Autism Spectrum Rating Scales (6-18 Years Parent Report) in a Clinical Sample. Journal of autism and developmental disorders. 2022.

ASD is a neurodevelopmental disorder impacting 1 in 44 children and early identification of children with ASD is critical for the intervention. Several screening measures have been developed for early identification, including the Autism Spectrum Rating Scales, 6-18 years Parent Report (ASRS). The ASRS has been understudied, and the current study assessed the validity of the ASRS in a clinical sample of 490 children at a tertiary ASD-specialty clinic. Results indicated that the ASRS demonstrated favorable sensitivity, but poor specificity. True positive screening results were more likely to occur for children with a multiracial background, while they were less likely to occur for children with a high social capital. Overall, though the ASRS has clinical utility as a screening measure, it did not perform effectively to differentiate ASD from Non-ASD clinical disorders.

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9. Khundrakpam B, Bhutani N, Vainik U, Gong J, Al-Sharif N, Dagher A, White T, Evans AC. A critical role of brain network architecture in a continuum model of autism spectrum disorders spanning from healthy individuals with genetic liability to individuals with ASD. Molecular psychiatry. 2022.

Studies have shown cortical alterations in individuals with autism spectrum disorders (ASD) as well as in individuals with high polygenic risk for ASD. An important addition to the study of altered cortical anatomy is the investigation of the underlying brain network architecture that may reveal brain-wide mechanisms in ASD and in polygenic risk for ASD. Such an approach has been proven useful in other psychiatric disorders by revealing that brain network architecture shapes (to an extent) the disorder-related cortical alterations. This study uses data from a clinical dataset-560 male subjects (266 individuals with ASD and 294 healthy individuals, CTL, mean age at 17.2 years) from the Autism Brain Imaging Data Exchange database, and data of 391 healthy individuals (207 males, mean age at 12.1 years) from the Pediatric Imaging, Neurocognition and Genetics database. ASD-related cortical alterations (group difference, ASD-CTL, in cortical thickness) and cortical correlates of polygenic risk for ASD were assessed, and then statistically compared with structural connectome-based network measures (such as hubs) using spin permutation tests. Next, we investigated whether polygenic risk for ASD could be predicted by network architecture by building machine-learning based prediction models, and whether the top predictors of the model were identified as disease epicenters of ASD. We observed that ASD-related cortical alterations as well as cortical correlates of polygenic risk for ASD implicated cortical hubs more strongly than non-hub regions. We also observed that age progression of ASD-related cortical alterations and cortical correlates of polygenic risk for ASD implicated cortical hubs more strongly than non-hub regions. Further investigation revealed that structural connectomes predicted polygenic risk for ASD (r = 0.30, p < 0.0001), and two brain regions (the left inferior parietal and left suparmarginal) with top predictive connections were identified as disease epicenters of ASD. Our study highlights a critical role of network architecture in a continuum model of ASD spanning from healthy individuals with genetic risk to individuals with ASD. Our study also highlights the strength of investigating polygenic risk scores in addition to multi-modal neuroimaging measures to better understand the interplay between genetic risk and brain alterations associated with ASD.

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10. Koshiyama H, Ishidou M, Ito H, Hirose K, Sakamoto K, Ikai A. Simplified primum ASD closure technique in complete VSD repair: shallow suture crossing on the AV node. General thoracic and cardiovascular surgery. 2022.

The primum atrial septal defect suture line adjacent to the crux is performed carefully with various techniques to avoid atrioventricular block in repair of complete atrioventricular septal defect. We describe our technical modification to simplify the shallow suture line only into the endocardium above the atrioventricular node without conduction disturbance.

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11. Levy EJ, Foss-Feig J, Isenstein EL, Srihari V, Anticevic A, Naples AJ, McPartland JC. Electrophysiological Studies of Reception of Facial Communication in Autism Spectrum Disorder and Schizophrenia. Review journal of autism and developmental disorders. 2022; 9(4): 521-54.

Autism spectrum disorder (ASD) and schizophrenia spectrum disorders (SZ) are characterized by difficulty with social cognition and atypical reception of facial communication – a key area in the Research Domain Criteria framework. To identify areas of overlap and dissociation between ASD and SZ, we review studies of event-related potentials (ERP) to faces across ASD and SZ populations, focusing on ERPs implicated in social perception: P100, N170, N250, and P300. There were many inconsistent findings across studies; however, replication was strongest for delayed N170 latency in ASD and attenuated N170 amplitude in SZ. These results highlight the challenges of replicating research findings in heterogeneous clinical populations and the need for transdiagnostic research that continuously quantifies behavior and neural activity across neurodevelopmental disorders.

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12. Liu Y, Di Y, Zheng Q, Qian Z, Fan J, Ren W, Wei Z, Tian Y. Altered expression of glycan patterns and glycan-related genes in the medial prefrontal cortex of the valproic acid rat model of autism. Frontiers in cellular neuroscience. 2022; 16: 1057857.

Autism spectrum disorders (ASD) represent a group of neurodevelopmental defects characterized by social deficits and repetitive behaviors. Alteration in Glycosylation patterns could influence the nervous system development and contribute to the molecular mechanism of ASD. Interaction of environmental factors with susceptible genes may affect expressions of glycosylation-related genes and thus result in abnormal glycosylation patterns. Here, we used an environmental factor-induced model of autism by a single intraperitoneal injection of 400 mg/kg valproic acid (VPA) to female rats at day 12.5 post-conception. Following confirmation of reduced sociability and increased self-grooming behaviors in VPA-treated offspring, we analyzed the alterations in the expression profile of glycan patterns and glycan-related genes by lectin microarrays and RNA-seq, respectively. Lectin microarrays detected 14 significantly regulated lectins in VPA rats, with an up-regulation of high-mannose with antennary and down-regulation of Siaα2-3 Gal/GalNAc. Based on the KEGG and CAZy resources, we assembled a comprehensive list of 961 glycan-related genes to focus our analysis on specific genes. Of those, transcription results revealed that there were 107 differentially expressed glycan-related genes (DEGGs) after VPA treatment. Functional analysis of DEGGs encoding anabolic enzymes revealed that the process trimming to form core structure and glycan extension from core structure primarily changed, which is consistent with the changes in glycan patterns. In addition, the DEGGs encoding glycoconjugates were mainly related to extracellular matrix and axon guidance. This study provides insights into the underlying molecular mechanism of aberrant glycosylation after prenatal VPA exposure, which may serve as potential biomarkers for the autism diagnosis.

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13. Looden T, Floris DL, Llera A, Chauvin RJ, Charman T, Banaschewski T, Murphy D, Marquand AF, Buitelaar JK, Beckmann CF. Patterns of connectome variability in autism across five functional activation tasks: findings from the LEAP project. Molecular autism. 2022; 13(1): 53.

BACKGROUND: Autism spectrum disorder (autism) is a complex neurodevelopmental condition with pronounced behavioral, cognitive, and neural heterogeneities across individuals. Here, our goal was to characterize heterogeneity in autism by identifying patterns of neural diversity as reflected in BOLD fMRI in the way individuals with autism engage with a varied array of cognitive tasks. METHODS: All analyses were based on the EU-AIMS/AIMS-2-TRIALS multisite Longitudinal European Autism Project (LEAP) with participants with autism (n = 282) and typically developing (TD) controls (n = 221) between 6 and 30 years of age. We employed a novel task potency approach which combines the unique aspects of both resting state fMRI and task-fMRI to quantify task-induced variations in the functional connectome. Normative modelling was used to map atypicality of features on an individual basis with respect to their distribution in neurotypical control participants. We applied robust out-of-sample canonical correlation analysis (CCA) to relate connectome data to behavioral data. RESULTS: Deviation from the normative ranges of global functional connectivity was greater for individuals with autism compared to TD in each fMRI task paradigm (all tasks p < 0.001). The similarity across individuals of the deviation pattern was significantly increased in autistic relative to TD individuals (p < 0.002). The CCA identified significant and robust brain-behavior covariation between functional connectivity atypicality and autism-related behavioral features. CONCLUSIONS: Individuals with autism engage with tasks in a globally atypical way, but the particular spatial pattern of this atypicality is nevertheless similar across tasks. Atypicalities in the tasks originate mostly from prefrontal cortex and default mode network regions, but also speech and auditory networks. We show how sophisticated modeling methods such as task potency and normative modeling can be used toward unravelling complex heterogeneous conditions like autism.

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14. Loucaides EM, Zuurmond M, Nemerimana M, Kirk CM, Lassman R, Ndayisaba A, Smythe T, Baganizi E, Tann CJ. Livelihood support for caregivers of children with developmental disabilities: findings from a scoping review and stakeholder survey. Disability and rehabilitation. 2022: 1-16.

PURPOSE: Poverty amongst families with a child with disability adversely impacts child and family quality of life. We aimed to identify existing approaches to livelihood support for caregivers of children with developmental disabilities in low- and middle-income countries. METHODS: This mixed-method study incorporated a scoping literature review and online stakeholder survey. We utilised the World Health Organization community-based rehabilitation (CBR) matrix as a guiding framework for knowledge synthesis and descriptively analysed the included articles and survey responses. RESULTS: We included 11 peer-reviewed publications, 6 grey literature articles, and 49 survey responses from stakeholders working in 22 countries. Identified programmes reported direct and indirect strategies for livelihood support targeting multiple elements of the CBR matrix; particularly skills development, access to social protection measures, and self-employment; frequently in collaboration with specialist partners, and as one component of a wider intervention. Self-help groups were also common. No publications examined effectiveness of livelihood support approaches in mitigating poverty, with most describing observational studies at small scale. CONCLUSION: Whilst stakeholders describe a variety of direct and indirect approaches to livelihood support for caregivers of children with disabilities, there is a lack of published literature on content, process, and impact to inform future programme development and delivery. Disability and poverty are interlinked, but little is known on approaches to livelihood support for caregivers of children with developmental disabilities in low- and middle-income countries.Stakeholders report direct and indirect strategies for livelihood support targeting multiple livelihood elements; particularly skills development, access to social protection measures and self-employment; frequently in collaboration with specialist partners, and as one component of a wider intervention.Improved reporting of livelihood targeted activities inclusive of evaluation of feasibility, acceptability and impact would support wider implementation of effective livelihood programmes for caregivers of children with disability. eng.

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15. Mehta S, Uribe F. Orthodontic management of patients with autism spectrum disorder. Journal of clinical orthodontics : JCO. 2022; 56(10): 592-4.

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16. Sacrey LR, Zwaigenbaum L, Brian JA, Smith IM, Armstrong V, Vaillancourt T, Schmidt LA. Behavioral and physiological differences during an emotion-evoking task in children at increased likelihood for autism spectrum disorder. Development and psychopathology. 2022: 1-11.

Literature examining emotional regulation in infants with autism spectrum disorder (ASD) has focused on parent report. We examined behavioral and physiological responses during an emotion-evoking task designed to elicit emotional states in infants. Infants at an increased likelihood for ASD (IL; have an older sibling with ASD; 96 not classified; 29 classified with ASD at age two) and low likelihood (LL; no family history of ASD; n = 61) completed the task at 6, 12, and 18 months. The main findings were (1) the IL-ASD group displayed higher levels of negative affect during toy removal and negative tasks compared to the IL non-ASD and LL groups, respectively, (2) the IL-ASD group spent more time looking at the baseline task compared to the other two groups, and (3) the IL-ASD group showed a greater increase in heart rate from baseline during the toy removal and negative tasks compared to the LL group. These results suggest that IL children who are classified as ASD at 24 months show differences in affect, gaze, and heart rate during an emotion-evoking task, with potential implications for understanding mechanisms related to emerging ASD.

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17. Taketomi T, Tsuruta F. Mutations in Hevin/Sparcl1 and risk of autism spectrum disorder. Neural regeneration research. 2023; 18(7): 1499-500.

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18. Wang L, Xie Z, Zhao D. Spring is not yet here: raising a child with ASD in rural southwest China. Disability and rehabilitation. 2022: 1-12.

PURPOSE: This study aims to reveal the parenting experiences of parents of children with autism spectrum disorder (ASD) in rural southwest China under the framework of ecological systems theory. MATERIALS AND METHODS: Semi-structured interviews were conducted with 21 parents of children with ASD from rural southwest China and the interview data were analyzed using the three coding steps of the grounded theory method, namely open, axial, and selective coding. RESULTS: The results showed four themes: challenges from within the family; relationships between parents, the school, and the community; scarcity and low accessibility of available resources and services; the culture of discriminating against people with disabilities and the loss of eligibility for welfare. The mismatch between the needs of families of children with ASD and the resources available in social-environmental systems is the major issue faced by parents. CONCLUSIONS: Raising a child with ASD in rural southwest China is affected by the interactions between the families and the internal structures in different environmental systems. The culture of discriminating against people with disabilities formed in the macrosystem could be the essential factor that affects the smoothness of the parenting process of children with ASD. The diagnosis of a child with autism spectrum disorder (ASD) is a difficult and stressful experience for the parents of the child and the whole family.This study highlights the mismatch between parent/family needs, and the resources in different environmental systems of rural southwest China, which may have a limiting effect on the rehabilitation of children with ASD.Emphasis on effective collaboration between social systems to help families with ASD children develop more supportive social conditions should be included in the discussion of rehabilitation projects.The educational and psychological interventions for parents of ASD children should be included in the rehabilitation, which enhance their scientific understanding of self-identity, family and social environment and parenting style. eng.

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19. Wilson AC, Bishop DVM. Does the autism phenotype differ when selecting groups by neurodevelopmental versus genetic diagnosis? An observational study comparing autism and sex chromosome trisomy. F1000Research. 2022; 11: 571.

Background: Autism is diagnosed on the basis of social and non-social behavioural features that are assumed to cluster together, and assumed to be distinct from other aspects of development, such as language ability. It is unclear, however, if these assumptions are valid. This study presents a novel approach to answering this question by investigating whether correlations between autism features are similar for groups selected on behavioural versus genetic diagnosis. Methods: The autism phenotype was assessed by diagnostic interview in young people aged 7 to 14 diagnosed with autism ( N=61) or sex chromosome trisomy (SCT; N=49). Data were analysed by confirmatory factor analysis and MANOVA. Results: Autism features showed a similar factor structure and were distinct from language ability in both groups. However, the SCT group was more likely to show clinically-significant difficulties in just some aspects of autism and a lower level of non-social autism features for their social-communication disabilities. Conclusions: We suggest the group differences emerged because autism diagnostic criteria do not map exactly on the autism phenotype as it manifests « naturally ». Conventional diagnostic criteria for autism miss those with uneven profiles of difficulty and those with relatively low levels of restricted and repetitive behaviours and interests.

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20. Xu D, Zhi Y, Liu X, Guan L, Yu J, Zhang D, Zhang W, Wang Y, Tao W, Xu Z. WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice. Neuroscience bulletin. 2022.

Brain size abnormality is correlated with an increased frequency of autism spectrum disorder (ASD) in offspring. Genetic analysis indicates that heterozygous mutations of the WD repeat domain 62 (WDR62) are associated with ASD. However, biological evidence is still lacking. Our study showed that Wdr62 knockout (KO) led to reduced brain size with impaired learning and memory, as well as ASD-like behaviors in mice. Interestingly, Wdr62 Nex-cKO mice (depletion of WDR62 in differentiated neurons) had a largely normal brain size but with aberrant social interactions and repetitive behaviors. WDR62 regulated dendritic spinogenesis and excitatory synaptic transmission in cortical pyramidal neurons. Finally, we revealed that retinoic acid gavages significantly alleviated ASD-like behaviors in mice with WDR62 haploinsufficiency, probably by complementing the expression of ASD and synapse-related genes. Our findings provide a new perspective on the relationship between the microcephaly gene WDR62 and ASD etiology that will benefit clinical diagnosis and intervention of ASD.

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