1. Beamish W, Taylor A, Macdonald L, Hay S, Tucker M, Paynter J. Field testing an Australian model of practice for teaching young school-age students on the autism spectrum. Research in developmental disabilities. 2021; 113: 103942.

BACKGROUND: Internationally, many mainstream teachers have identified that they lack the specialised knowledge and skills to adequately include and educate the increasing number of students on the autism spectrum in their classrooms. AIMS: We investigated the experiences and perceptions of Australian mainstream teachers who field-tested a validated Model of Practice designed to support their daily work with young school-aged students on the spectrum. This new online resource comprised 29 foundational research-informed practices, each accompanied by a 2-page practice brief. METHODS AND PROCEDURES: A convergent parallel mixed-methods design used semi-structured interviews and surveys to gather data from a sample of teachers (n = 38) prior to and following an 8-week field-testing period. Differentiated levels of professional support to facilitate engagement with the model were provided, with teachers receiving either in-person support, online support, or no additional support. OUTCOMES AND RESULTS: A majority of teachers endorsed the practice model. Those who engaged with the model reported statistically significant increases in knowledge, confidence, and efficacy. Professional support facilitated teacher use of the model. No significant changes in practice use were found. CONCLUSIONS AND IMPLICATIONS: This field-testing provides preliminary evidence of the applicability of the practice model in Australian early years classrooms. These findings have wider implications for the ways in which professional development can be targeted to promote research-informed teaching practice. What this paper adds This novel practice-based resource shows promise for building the capacity of mainstream teachers in educating young school-age students on the autism spectrum in the Australian context. Outcomes from this field testing confirm the usefulness of focusing on foundational teaching practices rather than single, stand-alone interventions. In addition, this research has highlighted the benefit of professional support in bridging the research-to-practice gap in autism education.

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2. Ben-Itzchak E, Zachor DA. Dog training intervention improves adaptive social communication skills in young children with autism spectrum disorder: A controlled crossover study. Autism : the international journal of research and practice. 2021; 25(6): 1682-93.

There is some evidence that using therapy dogs for children with autism spectrum disorder generally results in improved social communication skills and reduced behavioral problems. However, well-controlled studies that examine its effectiveness are scarce. This study examined the effectiveness of a « Dog Training Intervention. » The study included 73 participants diagnosed with autism spectrum disorder (61 males, 12 females) with age range of 2:10-7:6 years (M = 4:10 ± 1:0) who attend autism spectrum disorder-specific special education schools. The study population was divided into two groups. Each group received the dog training intervention during one part of the school year (first half or second half) in addition to the standard interventions provided by the special education school settings. The dog training intervention was given twice weekly for 4 months within the school setting. The group that received the dog training intervention first showed a significant increase in adaptive social and communication skills in comparison to the second group that did not receive the intervention in this period. This improvement was maintained after the dog training intervention. The second group, which received intervention at the second half of the year, showed improvement in communication and socialization adaptive skills only during the period in which they received the dog training intervention. The positive impact on social communication adaptive skills of the dog training intervention among young children with autism spectrum disorder suggests that dogs may serve as an effective model for establishing social interaction. Dog training intervention appears to be an effective adjunct treatment to the interventions provided in special education schools for young children with autism spectrum disorder.

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3. Doyen C, Kaye K. [COVID-19: Practice and ethics of videoconsultation assessment of children with autism spectrum disorder]. Ethique & sante. 2021; 18(2): 74-80.

OBJECTIVES: The COVID-19 crisis dramatically broke down the administrative, technological and clinical barriers that previously existed in the field of telemedicine. There is an important need to define standards for remote clinical observation, for instance in case of suspected autism spectrum disorder (ASD). Describing tools for the remote assessment of children with ASD and reflecting upon the ethical aspects of this practice will improve the quality of care with telemedicine. METHOD: Since 2013, we have conducted clinical evaluations by means of telemedicine at the center for diagnostic and evaluation of autism of the GHU Paris Psychiatry and Neurosciences which have afforded us opportunities to develop information tools and specific procedures. This clinical procedure is associated with ethical reflections that we included in our procedure. RESULTS: Benefits and risks are presented to families, and informed consent is obtained. The use of validated tools is privileged and their results are analyzed in light of the clinical experience of the professional. Privacy for persons and professionals is preserved, and the patient-doctor relationship is reinforced because of the ability of the patient to make decisions and feel more empowered in the context of the videoconsultation. CONCLUSION: The COVID-19 crisis was the impetus for a dramatic increase in the use of telemedicine with a potential risk because of the broad and blurry framework of its application. Clinical and ethical concerns must be studied. Moving forward, societal reflection about the accessibility of telemedicine will be necessary: telemedicine for all should be a future perspective. Publisher: Abstract available from the publisher. fre.

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4. Gossou KM, Koudema A, Kpoffon K, Adjiwanou V. Knowledge about Autism among Graduate Students in Togo. Journal of autism and developmental disorders. 2022; 52(2): 877-89.

Graduate students in healthcare or education programs should have adequate knowledge about autism as they could become professionals in that field. However, we were unable to locate any published studies that examined knowledge about autism among graduate students in francophone sub-Saharan Africa. Thus, the goal of this study was to describe knowledge about autism among 254 graduate psychology, medical, and education students in Togo. Results suggested that only 5% of graduate students had good knowledge about autism. Although graduate psychology students achieved higher scores than others, all subgroups had inadequate knowledge about specific characteristics of autism. The findings highlight the necessity of passing public policies to promote autism research and training in local universities in Togo.

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5. Hagerman PJ, Hagerman R. Fragile X syndrome. Current biology : CB. 2021; 31(6): R273-r5.

Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.

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6. Isoda M. The Role of the Medial Prefrontal Cortex in Moderating Neural Representations of Self and Other in Primates. Annual review of neuroscience. 2021; 44: 295-313.

As a frontal node in the primate social brain, the medial prefrontal cortex (MPFC) plays a critical role in coordinating one’s own behavior with respect to that of others. Current literature demonstrates that single neurons in the MPFC encode behavior-related variables such as intentions, actions, and rewards, specifically for self and other, and that the MPFC comes into play when reflecting upon oneself and others. The social moderator account of MPFC function can explain maladaptive social cognition in people with autism spectrum disorder, which tips the balance in favor of self-centered perspectives rather than taking into consideration the perspective of others. Several strands of evidence suggest a hypothesis that the MPFC represents different other mental models, depending on the context at hand, to better predict others’ emotions and behaviors. This hypothesis also accounts for aberrant MPFC activity in autistic individuals while they are mentalizing others.

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7. Kiss O, Oláh K, Fehér LJ, Topál J. Social categorization based on permanent versus transient visual traits in neurotypical children and children with autism spectrum disorder. Scientific reports. 2021; 11(1): 6549.

The present study was designed to test the relative weight of different types of category markers in children’s representations of social and biological kinds. We reasoned that in order to efficiently navigate through the mesh network of overlapping social categories, the representational system dedicated to processing information about social groups should be prepared to flexibly switch between potential ways of categorizing fellow humans. Thus, we hypothesized that children would assign more relevance to transient but symbolic features, such as shirt colour, when categorizing humans than other animal species. Across two experiments, we investigated whether typically developing children as well as children diagnosed with Autism Spectrum Disorder would categorize drawings of humans and dogs along a transient or a biologically set, permanent marker. The results show that both groups of children overwhelmingly selected the permanent feature to categorize dogs, however, they were more likely to categorize fellow humans based on transient features. We suggest that this tendency lays the ground for humans’ ability to efficiently represent the complex structure of societies.

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8. Lichtman D, Bergmann E, Kavushansky A, Cohen N, Levy NS, Levy AP, Kahn I. Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior. Translational psychiatry. 2021; 11(1): 181.

IQSEC2 is an X-linked gene that is associated with autism spectrum disorder (ASD), intellectual disability, and epilepsy. IQSEC2 is a postsynaptic density protein, localized on excitatory synapses as part of the NMDA receptor complex and is suggested to play a role in AMPA receptor trafficking and mediation of long-term depression. Here, we present brain-wide structural volumetric and functional connectivity characterization in a novel mouse model with a missense mutation in the IQ domain of IQSEC2 (A350V). Using high-resolution structural and functional MRI, we show that animals with the A350V mutation display increased whole-brain volume which was further found to be specific to the cerebral cortex and hippocampus. Moreover, using a data-driven approach we identify putative alterations in structure-function relations of the frontal, auditory, and visual networks in A350V mice. Examination of these alterations revealed an increase in functional connectivity between the anterior cingulate cortex and the dorsomedial striatum. We also show that corticostriatal functional connectivity is correlated with individual variability in social behavior only in A350V mice, as assessed using the three-chamber social preference test. Our results at the systems-level bridge the impact of previously reported changes in AMPA receptor trafficking to network-level disruption and impaired social behavior. Further, the A350V mouse model recapitulates similarly reported brain-wide changes in other ASD mouse models, with substantially different cellular-level pathologies that nonetheless result in similar brain-wide alterations, suggesting that novel therapeutic approaches in ASD that result in systems-level rescue will be relevant to IQSEC2 mutations.

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9. Maximo JO, Nelson CM, Kana RK. « Unrest while Resting »? Brain entropy in autism spectrum disorder. Brain research. 2021; 1762: 147435.

Biological systems typically exhibit complex behavior with nonlinear dynamic properties. Nonlinear signal processing techniques such as sample entropy is a novel approach to characterize the temporal dynamics of brain connectivity. Estimating entropy is especially important in clinical populations such as autism spectrum disorder (ASD) as differences in entropy may signal functional alterations in the brain. Considering the models of disrupted brain network connectivity in ASD, sample entropy would provide a novel direction to understand brain organization. Resting state fMRI data from 45 high-functioning children with ASD and 45 age-and-IQ-matched typically developing (TD) children were obtained from the Autism Brain Imaging Data Exchange (ABIDE-II) database. Data were preprocessed using the CONN toolbox. Sample entropy was then calculated using the complexity toolbox, in a whole-brain voxelwise manner as well as in regions of interests (ROIs) based methods. ASD participants demonstrated significantly increased entropy in left angular gyrus, superior parietal lobule, and right inferior temporal gyrus; and reduced sample entropy in superior frontal gyrus compared to TD participants. Positive correlations of average entropy in clusters of significant group differences scores across all subjects were found. Finally, ROI analysis revealed a main effect of lobes. Differences in entropy between the ASD and TD groups suggests that entropy may provide another important index of brain dysfunction in clinical populations like ASD. Further, the relationship between increased entropy and ASD symptoms in our study underscores the role of optimal brain synchronization in cognitive and behavioral functions.

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10. Reynolds KE, Wong CR, Scott AL. Astrocyte-mediated purinergic signaling is upregulated in a mouse model of Fragile X syndrome. Glia. 2021; 69(7): 1816-32.

Fragile X syndrome (FXS) is the leading monogenic cause of intellectual disability and autism spectrum disorders. With increasing investigation into the molecular mechanisms underlying FXS, there is growing evidence that perturbations in glial signaling are widely associated with neurological pathology. Purinergic signaling, which utilizes nucleoside triphosphates as signaling molecules, provides one of the most ubiquitous signaling systems for glial-neuronal and glial-glial crosstalk. Here, we sought to identify whether purinergic signaling is dysregulated within the FXS mouse cortex, and whether this dysregulation contributes to aberrant intercellular communication. In primary astrocyte cultures derived from the Fmr1 knockout (KO) mouse model of FXS, we found that application of exogenous ATP and UTP evoked elevated intracellular calcium responses compared to wildtype levels. Accordingly, purinergic P2Y(2) and P2Y(6) receptor expression was increased in Fmr1 KO astrocytes both in vitro and in acutely dissociated tissue, while P2Y antagonism via suramin prevented intracellular calcium elevations, suggesting a role for these receptors in aberrant FXS astrocyte activation. To investigate the impact of elevated purinergic signaling on astrocyte-mediated synaptogenesis, we quantified synaptogenic protein TSP-1, known to be regulated by P2Y activation. TSP-1 secretion and expression were both heightened in Fmr1 KO vs wildtype astrocytes following UTP application, while naïve TSP-1 cortical expression was also transiently elevated in vivo, indicating increased potential for excitatory TSP-1-mediated synaptogenesis in the FXS cortex. Together, our results demonstrate novel and significant purinergic signaling elevations in Fmr1 KO astrocytes, which may serve as a potential therapeutic target to mitigate the signaling aberrations observed in FXS.

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11. Rodin RE, Dou Y, Kwon M, Sherman MA, D’Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC, Park PJ, Walsh CA. Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nature neuroscience. 2021; 24(4): 611.

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12. Rosenberg K. Sperm Alterations Affect Autism Susceptibility in Offspring. The American journal of nursing. 2021; 121(4): 47.

According to this study: Epigenetic biomarkers for paternal offspring autism susceptibility potentially exist.

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13. Terlouw G, Kuipers D, van ‘t Veer J, Prins JT, Pierie J. The Development of an Escape Room-Based Serious Game to Trigger Social Interaction and Communication Between High-Functioning Children With Autism and Their Peers: Iterative Design Approach. JMIR serious games. 2021; 9(1): e19765.

BACKGROUND: Children with autism spectrum disorder (ASD) have social deficits that affect social interactions, communication, and relationships with peers. Many existing interventions focus mainly on improving social skills in clinical settings. In addition to the direct instruction-based programs, activity-based programs could be of added value, especially to bridge the relational gap between children with ASD and their peers. OBJECTIVE: The aim of this study is to describe an iterative design process for the development of an escape room-based serious game as a boundary object. The purpose of the serious game is to facilitate direct communication between high-functioning children with ASD and their peers, for the development of social skills on the one hand and strengthening relationships with peers through a fun and engaging activity on the other hand. METHODS: This study is structured around the Design Research Framework to develop an escape room through an iterative-incremental process. With a pool of 37 children, including 23 children diagnosed with ASD (5 girls) and 14 children (7 girls) attending special primary education for other additional needs, 4 testing sessions around different prototypes were conducted. The beta prototype was subsequently reviewed by experts (n=12). During the design research process, we examined in small steps whether the developed prototypes are feasible and whether they have the potential to achieve the formulated goals of different stakeholders. RESULTS: By testing various prototypes, several insights were found and used to improve the design. Insights were gained in finding a fitting and appealing theme for the children, composing the content, and addressing different constraints in applying the goals from the children’s and therapeutic perspectives. Eventually, a multiplayer virtual escape room, AScapeD, was developed. Three children can play the serious game in the same room on tablets. The first test shows that the game enacts equal cooperation and communication among the children. CONCLUSIONS: This paper presents an iterative design process for AScapeD. AScapeD enacts equal cooperation and communication in a playful way between children with ASD and their peers. The conceptual structure of an escape room contributes to the natural emergence of communication and cooperation. The iterative design process has been beneficial for finding a constructive game structure to address all formulated goals, and it contributed to the design of a serious game as a boundary object that mediates the various objectives of different stakeholders. We present 5 lessons learned from the design process. The developed prototype is feasible and has the potential to achieve the goals of the serious game.

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14. Wilson KE, Fish AM, Mankiw C, Xenophontos A, Warling A, Whitman E, Clasen L, Torres E, Blumenthal J, Raznahan A. Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome. Journal of neurodevelopmental disorders. 2021; 13(1): 12.

BACKGROUND: Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology. METHODS: We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits. RESULTS: Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R(2) ~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. CONCLUSIONS: We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , « 89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls. » Date of registry: 01 October 1989.

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15. Yin X, Jones N, Yang J, Asraoui N, Mathieu ME, Cai L, Chen SX. Delayed motor learning in a 16p11.2 deletion mouse model of autism is rescued by locus coeruleus activation. Nature neuroscience. 2021; 24(5): 646-57.

Children with autism spectrum disorder often exhibit delays in achieving motor developmental milestones such as crawling, walking and speech articulation. However, little is known about the neural mechanisms underlying motor-related deficits. Here, we reveal that mice with a syntenic deletion of the chromosome 16p11.2, a common copy number variation associated with autism spectrum disorder, also exhibit delayed motor learning without showing gross motor deficits. Using in vivo two-photon imaging in awake mice, we find that layer 2/3 excitatory neurons in the motor cortex of adult male 16p11.2-deletion mice show abnormally high activity during the initial phase of learning, and the process of learning-induced spine reorganization is prolonged. Pharmacogenetic activation of locus coeruleus noradrenergic neurons was sufficient to rescue the circuit deficits and the delayed motor learning in these mice. Our results unveil an unanticipated role of noradrenergic neuromodulation in improving the delayed motor learning in 16p11.2-deletion male mice.

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16. Zhou Q, Huang D, Xu C, Wang J, Jin Y. Hair levels of heavy metals and essential elements in Chinese children with autism spectrum disorder. Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 2021; 66: 126748.

BACKGROUND: Disproportional heavy metals and essential elements were reported in children with autism spectrum disorder (ASD) that is obscure in etiology. Inevitably, the association is biased by diet and environmental factors. METHODS: Fifty pairs, one with ASD and the other living together from the same special school with cerebral palsy (CP), were recruited in Hangzhou (China), aged from 2 to 11 years old (74.0 % male). All samples were divided into two subgroups: preschool-aged (2-5 years old) and school-aged (6-10 years old). Heavy metals (As, Hg, Pb) and essential elements (Al, Ca, Cu, Mg, Mn, Zn) in hair were quantified by inductively coupled plasma mass spectrometry analysis and flame atomic absorption spectroscopy. RESULTS: The children with ASD generally had lower hair levels of Mn (ASD 0.124 μg/g, CP 0.332 μg/g, P = 0.001) compared to the children with CP. After stratification for age, there were no significant differences detected in preschool-aged group. In school-aged group, the results exhibited the children with ASD had higher hair Pb (1.485 μg/g, 0.690 μg/g, P = 0.007) and Cu/Zn ratio (0.092, 0.060, P = 0.003), while hair Hg (0.254 μg/g, 0.353 μg/g, P = 0.016)、Mn (0.089 μg/g, 0.385 μg/g, P = 0.002)、Mg (17.81 μg/g, 24.53 μg/g, P = 0.014) and Zn (100.15 μg/g, 135.83 μg/g, P = 0.007) showed an opposite pattern. CONCLUSIONS: These results suggest an imbalance of Mn in Chinese children with ASD.

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17. Zoder-Martell KA, Floress MT, Schiuchetti MB, Markelz AM, Sayyeh L. Teachers’ Willingness to Use a Telepresence Robot for Consultation with Students with Autism Spectrum Disorder. Contemporary school psychology. 2021: 1-15.

A telepresence robot (TR) is one type of technology used to support teleconsultation in schools and may be preferred over other technologies due to its ability to provide immediate videoconferencing with mobility from a remote location. The aim of the current study was to examine teachers’ willingness of using a TR as a training mechanism for working with students with autism spectrum disorder (ASD). Through constant comparative analysis of focus group transcripts, this exploratory qualitative study assessed six teachers’ willingness of using TR. In total, 145 text fragments were coded and categorized. This process yielded three macro-categories, six micro-categories, nine primary codes, and 18 secondary codes. Advantages of using TRs, potential barriers, and future research directions are discussed.

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