1. Barbaro J, Wang C, Wang J, Liu G, Liang Y, Wang J, Abdullahi I, Dissanayake C. {{A Pilot Investigation of the Social Attention and Communication Surveillance (SACS) Tool for the Early Identification of Autism in Tianjin, China (SACS-C)}}. {Frontiers in neurology}. 2020; 11: 597790.
Introduction: Autism spectrum disorder (ASD) comprises difficulties in social communication and restrictive and repetitive behaviors. Despite an increased global prevalence, little remains known about early detection and diagnosis of autism in Mainland China. Our aim was to conduct a pilot investigation of the implementation of an Australian tool, Social Attention and Communication Surveillance (SACS), in Tianjin, China (SACS-C) by trained professionals to identify autism early compared to the Checklist for Autism in Toddlers-23 (CHAT-23) completed by parents and professionals. Materials and Methods: A total of 10,514 children were monitored across 61 Community Health Service Centres in six Tianjin districts on the SACS-C at 12, 18, and 24 months of age following a half-day training of 225 child health practitioners. Children deemed at « high likelihood » for autism on either the SACS, CHAT-23, or both, were referred for developmental assessments at the Tianjin Women and Children’s Health Centre (TWCHC). Results: A total of 87 children (0.8%) were identified at « high likelihood » on the SACS-C, of whom 57 (66%) were assessed for autism; 24 children were subsequently diagnosed with autism (42.1%), and the remaining 33 (57.9%) were diagnosed with developmental and/or language delays. The SACS-C had a positive predictive value (PPV) of 42.1%, a negative predictive value (NPV) of 99.8%, and sensitivity and specificity of 53.3 and 99.7%, respectively. Only 21 children were identified at « high risk » for autism on the CHAT-23 (0.2%), over four times fewer children than the SACS-C, with 14 children assessed for autism (66%); nine were diagnosed with autism (64.3%) and the remaining five children were diagnosed with developmental and/or language delays. The CHAT-23 had an overall PPV of 64.3%, NPV of 99.6%, sensitivity of 27.3%, and specificity of 99.9%. Conclusion: This was the first large-scale study identifying autism in 12-24-month-old children in China. We ascertained the feasibility of training community health practitioners to monitor infants and toddlers for the early signs of autism, and determined the effectiveness of their use of SACS-C which had a better balance between accuracy and sensitivity in detecting autism in contrast to the CHAT-23 which missed the majority of children with autism (72.7%) vs. the SACS-C (46.7%). Given the emphasis on identifying as many children with autism as possible in Mainland China, SACS-C was identified as the tool of choice by the TWCHC. However, more work is needed to improve the psychometric properties in using the SACS-C in Mainland China so that it is comparable to its use in Australia.
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2. Forrest MP, Penzes P. {{Autism Genetics: Over 100 Risk Genes and Counting}}. {Pediatric neurology briefs}. 2020; 34: 13.
Researchers from the Autism Sequencing Consortium (ASC) led by Joseph Buxbaum at the Icahn School of Medicine at Mount Sinai report the largest exome sequencing study in autism spectrum disorder (ASD) to date.
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3. Frolli A, Ricci MC, Bosco A, Lombardi A, Cavallaro A, Operto FF, Rega A. {{Video Modeling and Social Skills Learning in ASD-HF}}. {Children (Basel, Switzerland)}. 2020; 7(12).
Autism spectrum disorders represent a heterogeneous group of clinical situations, and are mainly represented by a deficit of social communication. In this study, we compare two strategies to enhance communicative/social skills, namely self-video modeling and peer video modeling. The subjects were divided into two groups treated via the method of self-video modeling (group 1) or peer video modeling (group 2). For both groups of subjects affected by ASD-HF (Autism Spectrum Disorder-high-functioning), three different activities were proposed: (a) interacting with a salesperson while making a purchase, (b) initiating and maintaining a conversation with peers, and (c) starting and maintaining an enjoyable activity with a peer. The ability to rapidly accomplish the task was used as the main criteria to appraise the groups’ responses to the proposed activities. In group 1, the use of self-video modeling procedures demonstrated a faster and correct execution of the three proposed tasks (especially task 3) when compared to group 2. In group 2, the use of peer video modeling has instead led to a slower acquisition of abilities to process and perform the tasks. The use of self-video modeling speeds up the acquisition of skills to perform communicative/social tasks, compared to peer video modeling’s slower performance in subjects with ASD-HF. Results could be related to either the amount of time the subject is exposed to the task or to the capacity of ASD-HF subjects to self-value one’s own actions more than others. In our work, we have tried to reset the differences in exposure time. Therefore, self-video modeling is demonstrated to be more effective, as it produces a response to the signification/mirroring characteristic of ASD-HF.
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4. Galvez-Contreras AY, Zarate-Lopez D, Torres-Chavez AL, Gonzalez-Perez O. {{Role of Oligodendrocytes and Myelin in the Pathophysiology of Autism Spectrum Disorder}}. {Brain Sci}. 2020; 10(12).
Autism Spectrum Disorder (ASD) is an early neurodevelopmental disorder that involves deficits in interpersonal communication, social interaction, and repetitive behaviors. Although ASD pathophysiology is still uncertain, alterations in the abnormal development of the frontal lobe, limbic areas, and putamen generate an imbalance between inhibition and excitation of neuronal activity. Interestingly, recent findings suggest that a disruption in neuronal connectivity is associated with neural alterations in white matter production and myelination in diverse brain regions of patients with ASD. This review is aimed to summarize the most recent evidence that supports the notion that abnormalities in the oligodendrocyte generation and axonal myelination in specific brain regions are involved in the pathophysiology of ASD. Fundamental molecular mediators of these pathological processes are also examined. Determining the role of alterations in oligodendrogenesis and myelination is a fundamental step to understand the pathophysiology of ASD and identify possible therapeutic targets.
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5. Harris JF, Coffield CN, Janvier YM, Mandell D, Cidav Z. {{Validation of The Developmental Check-In Tool for Low-Literacy Autism Screening}}. {Pediatrics}. 2020.
BACKGROUND: Persistent disparities exist in early identification of autism spectrum disorder (ASD) among children from low-income families who are racial and/or ethnic minorities and where English is not the primary language. Parental literacy and level of maternal education may contribute to disparities. The Developmental Check-In (DCI) is a visually based ASD screening tool created to reduce literacy demands and to be easily administered and scored across settings. In a previous study, the DCI showed acceptable discriminative ability between ASD versus non-ASD in a young, underserved sample at high-risk for ASD. In this study, we tested the DCI among an unselected, general sample of young underserved children. METHODS: Six hundred twenty-four children ages 24 to 60 months were recruited through Head Start and Early Head Start. Parents completed the DCI, Modified Checklist for Autism in Toddlers, Revised with Follow-Up, and Social Communication Questionnaire. Children scoring positive on any measure received evaluation for ASD. Those screening negative on both Modified Checklist for Autism in Toddlers, Revised with Follow-Up and Social Communication Questionnaire were considered non-ASD. RESULTS: Parents were primarily Hispanic, reported high school education or less, and had public or no insurance. The DCI demonstrated good discriminative power (area under the curve = 0.80), performing well across all age groups, genders, levels of maternal education, primary language, and included ethnic and racial groups. Item-level analyses indicated that 24 of 26 DCI items discriminated ASD from non-ASD. CONCLUSIONS: The DCI is a promising ASD screening tool for young, underserved children and may be of particular value in screening for ASD for those with low literacy levels or with limited English proficiency.
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6. Kotila A, Hyvärinen A, Mäkinen L, Leinonen E, Hurtig T, Ebeling H, Korhonen V, Kiviniemi VJ, Loukusa S. {{Processing of pragmatic communication in ASD: a video-based brain imaging study}}. {Sci Rep}. 2020; 10(1): 21739.
Social and pragmatic difficulties in autism spectrum disorder (ASD) are widely recognized, although their underlying neural level processing is not well understood. The aim of this study was to examine the activity of the brain network components linked to social and pragmatic understanding in order to reveal whether complex socio-pragmatic events evoke differences in brain activity between the ASD and control groups. Nineteen young adults (mean age 23.6 years) with ASD and 19 controls (mean age 22.7 years) were recruited for the study. The stimulus data consisted of video clips showing complex social events that demanded processing of pragmatic communication. In the analysis, the functional magnetic resonance imaging signal responses of the selected brain network components linked to social and pragmatic information processing were compared. Although the processing of the young adults with ASD was similar to that of the control group during the majority of the social scenes, differences between the groups were found in the activity of the social brain network components when the participants were observing situations with concurrent verbal and non-verbal communication events. The results suggest that the ASD group had challenges in processing concurrent multimodal cues in complex pragmatic communication situations.
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7. Manor-Binyamini I, Schreiber-Divon M. {{Bedouin mothers of young children with developmental disability – Stigma, quality of life and collaboration with professionals}}. {Res Dev Disabil}. 2020; 108: 103819.
BACKGROUND: Although children across the world experience Developmental Disabilities, most research on DD has been conducted using Western cultural perspectives. Similarly, though much has been written on the subject of collaboration between parents and professionals around the world, this subject has hardly been studied among Bedouin mothers in the Middle East, leaving significant gaps in the literature. This study intends to fill some of these gaps by exploring and gaining an understanding of the experiences of Bedouin mothers raising young children with DD. AIMS: The aims of the study were to examine: A) Do stigma and the QoL of mothers of young children with DD affect the collaboration between them and professionals? B) Do relationships exist between stigma, QoL, and collaboration among the mothers? METHODS: Ninety Bedouin mothers of children with DD completed: a socio-demographic questionnaire, a questionnaire of collaboration between parents and professionals, and a QoL questionnaire. RESULTS: A significant negative relationship was found between stigma and the collaboration of the mothers with the professional, and a significant positive relationship between QoL and collaboration. The model for predicting collaboration using stigma and QoL was significant. CONCLUSIONS AND IMPLICATIONS: This study emphasizes the need for collaboration between this mothers and professionals, and to develop community programs.
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8. Mutluer T, Doenyas C, Aslan Genc H. {{Behavioral Implications of the Covid-19 Process for Autism Spectrum Disorder, and Individuals’ Comprehension of and Reactions to the Pandemic Conditions}}. {Frontiers in psychiatry}. 2020; 11: 561882.
During disasters and pandemics, vulnerable populations such as patients with mental conditions are known to be overly influenced. Yet, not much is known about how the individuals with autism spectrum disorder (ASD), one of the most common neurodevelopmental conditions globally with a prevalence of 1%, are affected from health-related disasters, especially the current Covid-19 pandemic. Therefore, we conducted an investigation of how individuals with ASD responded to Covid-19 in terms of comprehension and adherence to implemented measures; changes in their behavioral problems; and how their caregivers’ anxiety levels relate with these behavioral changes. Our sample consisted of 87 individuals with ASD (15 girls; ages ranged from 3-29, with an average of 13.96 ± 6.1). The majority of our sample had problems understanding what Covid-19 is and the measures it requires. They also had challenges in implementing social distance and hygiene-related regulations of the pandemic. The majority stopped receiving special education during this period. We observed a Covid-19-related clinical presentation that resembled PTSD in individuals with ASD in terms of increased stereotypies, aggression, hypersensitivity, behavioral problems, and sleep and appetite alterations. All subscales of Aberrant Behavior Checklist (ABC) differed significantly between before and after the pandemic conditions. The number of hours the children slept significantly decreased from before to during Covid-19. The anxiety levels of caregivers were high and correlated with the current behavioral problem levels of their children, but not with the level of their behavioral problems before the pandemic. The difference in ABC total score and specifically the lethargy/social withdrawal subscale score predicted parents’ anxiety score. Our results suggest that the Covid-19 period inflicts specific challenges to individuals with ASD and their caregivers, underlining the need for targeted, distance special education interventions and other support services for this population.
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9. Todd TA, Ahrold K, Jarvis DN, Mache MA. {{Evaluation of Overhand Throwing Among College Students With and Without Autism Spectrum Disorder}}. {Adapted physical activity quarterly : APAQ}. 2020: 1-19.
Children with autism spectrum disorder (ASD) typically demonstrate deficits in gross motor skills such as the overhand throw. It has not been determined whether such deficits persist into adulthood. Therefore, the purpose of this study was to examine the kinematics and developmental level of overhand throws among young adults with and without ASD. Three-dimensional motion-capture data were collected during overhand throwing trials performed by 20 college students (10 students with ASD). Individuals with ASD demonstrated similar throw duration, stride length, and step width but a longer acceleration phase and slower ball velocity than individuals without ASD. Young adults with ASD also performed the overhand throw with less developmental proficiency than those without ASD. Specifically, individuals with ASD exhibited developmental deficits in the backswing and composite throwing score. Motor skill interventions for individuals with ASD should address throwing skills, with a particular focus on the preparatory phase of the overhand throw.
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10. Zhang D, Liu C, Li H, Jiao J. {{Deficiency of STING Signaling in Embryonic Cerebral Cortex Leads to Neurogenic Abnormalities and Autistic-Like Behaviors}}. {Advanced science (Weinheim, Baden-Wurttemberg, Germany)}. 2020; 7(23): 2002117.
STING is known as a central adaptor for sensing cytosolic DNA sensing. Recent studies have provided evidence that STING response is divergent among different cell types. Here, this work demonstrates that STING controls neural progenitor cells (NPCs) by sensing DNA damage in NPCs. The deletion of STING reduces neuronal differentiation and increases proliferation of mouse and human NPCs. Furthermore, STING(cKO) mice display autistic-like behaviors. In NPCs, STING specifically recruits IKKβ and activates nuclear factor κB (NF-κB) through phosphorylation. NF-κB binds to ALX4 promoter and triggers ALX4 transcription. In addition, tumor necrosis factor α, an activator of NF-κB, can rescue some phenotypes caused by STING deletion in mice. Together, the findings show that STING signaling is essential for neuronal gene expression program and has profound consequences on brain function.
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11. Zwaigenbaum L. {{Autism Screening: An Important Step Forward but « Miles to Go Before We Sleep »}}. {Pediatrics}. 2020.
