1. Barki M, Xue H. GABRB2, a key player in neuropsychiatric disorders and beyond. Gene. 2022; 809: 146021.

The GABA receptors represent the main inhibitory system in the central nervous system that ensure synaptogenesis, neurogenesis, and the regulation of neuronal plasticity and learning. GABA(A) receptors are pentameric in structure and belong to the Cys-loop superfamily. The GABRB2 gene, located on chromosome 5q34, encodes the β(2) subunit that combines with the α and γ subunits to form the major subtype of GABA(A) receptors, which account for 43% of all GABA(A) receptors in the mammalian brain. Each subunit probably consists of an extracellular N-terminal domain, four membrane-spanning segments, a large intracellular loop between TM3 and TM4, and an extracellular C-terminal domain. Alternative splicing of the RNA transcript of the GABRB2 gene gives rise at least to four long and short isoforms with dissimilar electrophysiological properties. Furthermore, GABRB2 is imprinted and subjected to epigenetic regulation and positive selection. It has been associated with schizophrenia first in Han Chinese, and subsequently validated in other populations. Gabrb2 knockout mice also exhibited schizophrenia-like behavior and neuroinflammation that were ameliorated by the antipsychotic drug risperidone. GABRB2 was also associated with other neuropsychiatric disorders including bipolar disorder, epilepsy, autism spectrum disorder, Alzheimer’s disease, frontotemporal dementia, substance dependence, depression, internet gaming disorder, and premenstrual dysphoric disorder. Recently, it has been postulated that GABRB2 might be a potential marker for different cancer types. As GABRB2 has a pivotal role in the central nervous system and is increasingly recognized to contribute to human diseases, further understanding of its structure and function may expedite the generation of new therapeutic approaches.

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2. Beaudoin AJ, Pedneault F, Houle M, Bilodeau C, Gauvin MP, Groleau D, Brochu P, Couture M. Case study assessing the feasibility of using a wearable haptic device or humanoid robot to facilitate transitions in occupational therapy sessions for children with autism spectrum disorder. Journal of rehabilitation and assistive technologies engineering. 2021; 8: 20556683211049041.

INTRODUCTION: Some children with autism spectrum disorder (ASD) have difficulties with transitions that may lead to problem behaviours. Although the use of technologies with children with ASD is receiving increasing attention, no study has looked at their effect on transitions in activities of daily living. This study aimed to document the feasibility of (1) using two intervention technologies (NAO humanoid robot or wearable haptic device) separately to facilitate transitions in occupational therapy sessions for children with ASD and (2) the method used to document changes. METHODS: Using a single case reversal (ABA) design, two children with ASD were randomly assigned to one of the intervention technologies (humanoid robot or haptic bracelet). Each technology was used as an antecedent to stimulate the start of transitions in eight intervention sessions at a private occupational therapy clinic. Data concerning the time required for transitions, child’s behaviours during transitions at the clinic and mother’s perception of the child’s performance in transitions at home were analysed graphically. RESULTS: When using technology, both children’s behaviours were appropriate, quick and relatively stable. Also, both mothers reported improved perceptions of their child’s performance in transitions. CONCLUSIONS: This exploratory study suggests no detrimental effect of using these technologies.

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3. Guy MW, Black CJ, Hogan AL, Coyle RE, Richards JE, Roberts JE. A single-session behavioral protocol for successful event-related potential recording in children with neurodevelopmental disorders. Developmental psychobiology. 2021; 63(7): e22194.

Event-related potentials (ERPs) are an ideal tool for measuring neural responses in a wide range of participants, including children diagnosed with neurodevelopmental disorders (NDDs). However, due to perceived barriers regarding participant compliance, much of this work has excluded children with low IQ and/or reduced adaptive functioning, significant anxiety symptoms, and/or sensory processing difficulties, including heterogeneous samples of children with autism spectrum disorder (ASD) and children with fragile X syndrome (FXS). We have developed a behavioral support protocol designed to obtain high-quality ERP data from children in a single session. Using this approach, ERP data were successfully collected from participants with ASD, FXS, and typical development (TD). Higher success rates were observed for children with ASD and TD than children with FXS. Unique clinical-behavioral characteristics were associated with successful data collection across these groups. Higher chronological age, nonverbal mental age, and receptive language skills were associated with a greater number of valid trials completed in children with ASD. In contrast, higher language ability, lower autism severity, increased anxiety, and increased sensory hyperresponsivity were associated with a greater number of valid trials completed in children with FXS. This work indicates that a « one-size-fits-all » approach cannot be taken to ERP research on children with NDDs, but that a single-session paradigm is feasible and is intended to promote increased representation of children with NDDs in neuroscience research through development of ERP methods that support inclusion of diverse and representative samples.

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4. Harris E, Myers H, Saxena K, Mitchell-Heggs R, Kind P, Chattarji S, Morris RGM. Experiential modulation of social dominance in a SYNGAP1 rat model of Autism Spectrum Disorders. The European journal of neuroscience. 2021; 54(10): 7733-48.

Advances in the understanding of developmental brain disorders such as autism spectrum disorders (ASDs) are being achieved through human neurogenetics such as, for example, identifying de novo mutations in SYNGAP1 as one relatively common cause of ASD. A recently developed rat line lacking the calcium/lipid binding (C2) and GTPase activation protein (GAP) domain may further help uncover the neurobiological basis of deficits in children with ASD. This study focused on social dominance in the tube test using Syngap(+/Δ-GAP) (rats heterozygous for the C2/GAP domain deletion) as alterations in social behaviour are a key facet of the human phenotype. Male animals of this line living together formed a stable intra-cage hierarchy, but they were submissive when living with wild-type (WT) cage-mates, thereby modelling the social withdrawal seen in ASD. The study includes a detailed analysis of specific behaviours expressed in social interactions by WT and mutant animals, including the observation that when the Syngap(+/Δ-GAP) mutants that had been living together had separate dominance encounters with WT animals from other cages, the two higher ranking Syngap(+/Δ-GAP) rats remained dominant whereas the two lower ranking mutants were still submissive. Although only observed in a small subset of animals, these findings support earlier observations with a rat model of Fragile X, indicating that their experience of winning or losing dominance encounters has a lasting influence on subsequent encounters with others. Our results highlight and model that even with single-gene mutations, dominance phenotypes reflect an interaction between genotypic and environmental factors.

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5. Heidari A, Rostam-Abadi Y, Rezaei N. The immune system and autism spectrum disorder: association and therapeutic challenges. Acta neurobiologiae experimentalis. 2021; 81(3): 249-63.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, affecting communication and behavior. Historically, ASD had been described as a purely psychiatric disorder with genetic factors playing the most critical role. Recently, a growing body of literature has been emphasizing the importance of environmental and immunological factors in its pathogenesis, with the autoimmune process attracting the most attention. This study provides a review of the autoimmune involvement in the pathogenesis of ASD. The\r\nmicrobiome, the representative of the innate immune system in the central nervous system (CNS), plays a critical role in triggering inflammation. Besides, a bidirectional communicational pathway between the CNS and the intestine called the gut‑brain‑axis is linked to the development of ASD. Moreover, the higher plasma level of pro‑inflammatory cytokines in ASD patients and the higher prevalence of autoimmune disorders in the first‑degree family members of affected persons are other clues of the immune system involvement in\r\nthe pathogenesis of ASD. Furthermore, some anti‑inflammatory drugs, including resveratrol and palmitoylethanolamide have shown promising effects by relieving the manifestations of ASD. Although considerable advances have been made in elucidating the role of autoimmunity in the ASD pathogenesis, further studies with stronger methodologies are needed to apply the knowledge to the definitive treatment of ASD.

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6. Kaplan-Kahn EA, Park A, Russo N. Pathways of perceptual primacy: ERP evidence for relationships between autism traits and enhanced perceptual functioning. Neuropsychologia. 2021; 163: 108065.

Autistic individuals show enhanced perceptual functioning on many behavioral tasks. Neurophysiological evidence also supports the conclusion that autistic individuals utilize perceptual processes to a greater extent than neurotypical comparisons to support problem solving and reasoning; however, how atypicalities in early perceptual processing influence subsequent cognitive processes remains to be elucidated. The goals of the present study were to test the relationship between early perceptual and subsequent cognitive event related potentials (ERPs) and their relationship to levels of autism traits. 62 neurotypical adults completed the Autism Spectrum Quotient (AQ) and participated in an ERP task. Path models were compared to test predictive relationships among an early perceptual ERP (the P1 component), a subsequent cognitive ERP (the N400 effect), and the Attention to Detail subscale of the AQ. The size of participants’ P1 components was positively correlated with the size of their N400 effect and their Attention to Detail score. Model comparisons supported the model specifying that variation in Attention to Detail scores predicted meaningful differences in participants’ ERP waveforms. The relationship between Attention to Detail scores and the size of the N400 effect was significantly mediated by the size of the P1 effect. This study revealed that neurotypical adults with higher levels of Attention to Detail show larger P1 differences, which, in turn, correspond to larger N400 effects. Findings support the Enhanced Perceptual Functioning model of autism, suggesting that early perceptual processing differences may cascade forward and result in modifications to later cognitive mechanisms.

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7. Kostiukow A, Poniewierski P, Janowska D, Samborski W. Levels of happiness and depression in parents of children with autism spectrum disorder in Poland. Acta neurobiologiae experimentalis. 2021; 81(3): 279-85.

There are numerous factors that determine the sense of happiness and level of depression in caregivers of children with autism spectrum disorder (ASD). The aim of this paper is to evaluate happiness and depression in/among families with an ASD child and compare with families with neurotypical children. The study included 182 participants. The participants answered questions for two questionnaires: Beck Depression Inventory and Oxford Happiness Questionnaire. The outcome of the study identified significant differences for sense of happiness and level of depression among the parents of children with ASD compared with the parents of neurotypical children. It was shown that parents of children with ASD reported a lower sense of happiness and a higher level of depression compared to the parents of neurotypical children. They also showed a significantly higher level of depression relative to the decreased level of happiness. Moreover, parents who have a university education degree and a child with ASD showed a higher sense of happiness and a lower level of depression than parents who had a secondary education degree, in the studied groups.

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8. Matsui K, Yoshiike T, Tsuru A, Otsuki R, Nagao K, Ayabe N, Hazumi M, Utsumi T, Yamamoto K, Fukumizu M, Kuriyama K. Psychological burden of attention-deficit/hyperactivity disorder traits on medical workers under the COVID-19 outbreak: a cross-sectional web-based questionnaire survey. BMJ open. 2021; 11(10): e053737.

OBJECTIVES: There are numerous reports on the psychological burden of medical workers after the COVID-19 outbreak; however, no study has examined the influence of developmental characteristics on the mental health of medical workers. The objective of this study was to examine whether the developmental characteristics of medical workers are associated with anxiety and depression after the COVID-19 outbreak. DESIGN: We conducted an online cross-sectional questionnaire survey in October 2020. PARTICIPANTS AND SETTING: The data of 640 medical workers were analysed. The questionnaire included items on sociodemographic data, changes in their life after the COVID-19 outbreak and symptoms of depression, anxiety, attention-deficit/hyperactivity disorder (ADHD) traits and autism spectrum disorder traits. MAIN OUTCOMES: Depression symptoms were assessed by the Patient Health Questionnaire-9 and anxiety symptoms were assessed by the Generalised Anxiety Disorder-7. A series of hierarchical multiple regression analyses were performed to test the effects of developmental characteristics on depression and anxiety symptoms after controlling for sociodemographic factors and changes in participants’ lives after the COVID-19 outbreak. RESULTS: Increases in physical and psychological burden were observed in 49.1% and 78.3% of the subjects, respectively. The results of a multiple regression analysis showed that ADHD traits were significantly associated with both depression (β=0.390, p<0.001) and anxiety (β=0.426, p<0.001). Autistic traits were significantly associated with depression (β=0.069, p<0.05) but not anxiety. Increased physical and psychological burden, being female, medical workers other than physicians and nurses, fear of COVID-19 and experience of discrimination were also significantly associated with both depression and anxiety. CONCLUSION: Globally, the burden on medical workers increased. This study suggested that medical workers with higher ADHD traits may need special attention during the COVID-19 pandemic.

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9. Raslan IR, França MC, Jr., Oliveira JB, Schuurs-Hoeijmakers JHM, Pfundt R, Kok F, Barsottini OGP, Pedroso JL. Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation. Parkinsonism & related disorders. 2021; 92: 33-5.

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10. Schmeer A, Harris VW, Forthun L, Valcante G, Visconti B. Through the eyes of a child: Sibling perspectives on having a sibling diagnosed with autism. Research in developmental disabilities. 2021; 119: 104066.

BACKGROUND: Sibling perspectives on the experiences of families caring for an autistic child are often overlooked in autism research. While qualitative research on these lived experiences has grown, it continues to primarily focus on parent reports. AIMS: This study explored how having a sibling with autism impacts the non-autistic siblings within a family systems framework. The goal of the current study was to expand the literature by exploring the impacts of autism on the sibling subsystem as reported by the parents and the non-autistic siblings themselves. METHODS AND PROCEDURES: The researchers interviewed 15 non-autistic siblings (aged 7-17) and 15 parents of children with autism to understand the experience of growing up with a sibling with autism. Content analysis was used to develop the interview protocol and analyze responses. Parent and non-autistic sibling reports of both siblings’ effects on each other’s development are triangulated with existing research. RESULTS: Findings indicate novel emotional skill-building occurs in non-autistic siblings, as well as some unique risk factors for internalizing and externalizing problems if non-autistic siblings’ needs become deprioritized. Family stress, external relationships, intrapersonal and social skill development, and other implications of this unique relationship are discussed.

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11. Shenouda J, Barrett E, Davidow AL, Halperin W, Silenzio VMB, Zahorodny W. Prevalence of autism spectrum disorder in a large, diverse metropolitan area: Variation by sociodemographic factors. Autism research : official journal of the International Society for Autism Research. 2022; 15(1): 146-55.

Autism spectrum disorder (ASD) prevalence estimates have varied by region. In this study, ASD prevalence, based on active case finding from multiple sources, was determined at the county and school district levels in the New Jersey metropolitan area. Among children born in 2008, residing in a four-county area and enrolled in public school in 2016, ASD prevalence was estimated to be 36 per 1000, but was significantly higher in one region-54 per 1000 and greater than 70 per 1000, in multiple school districts. Significant variation in ASD prevalence by race/ethnicity, socioeconomic status (SES), and school district size was identified. Highest prevalence was in mid-SES communities, contrary to expectation. Prevalence among Hispanic children was lower than expected, indicating a disparity in identification. Comprehensive surveillance should provide estimates at the county and town levels to appreciate ASD trends, identify disparities in detection or treatment, and explore factors influencing change in prevalence. LAY SUMMARY: We found autism prevalence to be 3.6% in New Jersey overall, but higher in one region (5.4%) and in multiple areas approaching 7.0%. We identified significant variation in autism spectrum disorder (ASD) prevalence by race/ethnicity, socioeconomic status (SES) and school district size. Mapping prevalence in smaller, well-specified, regions may be useful to better understand the true scope of ASD, disparities in ASD detection and the factors impacting ASD prevalence estimation.

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12. Trembath D, Waddington H, Sulek R, Varcin K, Bent C, Ashburner J, Eapen V, Goodall E, Hudry K, Silove N, Whitehouse A. An evidence-based framework for determining the optimal amount of intervention for autistic children. The Lancet Child & adolescent health. 2021; 5(12): 896-904.

The provision of timely, effective, and socially valid non-pharmacological intervention is at the core of efforts to support the development of young autistic children. These efforts are intended to support children to develop skills, empower their caregivers, and lay the foundation for optimal choice, independence, and quality of life into adulthood. But what is the optimal amount of intervention? In this Viewpoint, we review current guidelines and consider evidence from an umbrella review of non-pharmacological interventions for autistic children aged up to 12 years. We show the lack of consensus on the issue, identify factors that might be relevant to consider, and present an evidence-based framework for determining the optimal amount of intervention for each child, along with recommendations for future research.

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