1. Allen AA, Shane HC, Schlosser RW, Haynes CW. The effect of cue type on directive-following in children with moderate to severe autism spectrum disorder. Augmentative and alternative communication (Baltimore, Md : 1985). 2021; 37(3): 168-79.

For this study, 11 children with moderate to severe autism spectrum disorder (ASD) were given directives containing prepositions in three cue conditions: (a) spoken alone, (b) a short video clip along with spoken cues, and (c) a sequence of three graphic symbols accompanied by spoken cues. Participants followed directives significantly more accurately with the video clip than with spoken cues only, and significantly more accurately with spoken cues only relative to the sequence of graphic symbols. Results suggest that the short video clip along with spoken cues may be an optimal mode for enhancing learners’ ability to follow directives containing prepositions. In addition, results reveal three statistically significant correlations between participants’ preexisting skills and directive-following accuracy: a positive correlation between spoken preposition preassessment total score and accuracy in the spoken-alone condition; a positive correlation between spoken noun preassessment total score and accuracy in the video-clip condition; and a positive correlation between ASD severity and the need for repetition in the video-clip condition. Results also suggested that, for children with more severe ASD symptoms, the video clips require repetitions so that the relationships illustrated within it can gain more semantic salience. Implications for clinical practice and future research are discussed.

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2. Bermudez-Martin P, Becker JAJ, Caramello N, Fernandez SP, Costa-Campos R, Canaguier J, Barbosa S, Martinez-Gili L, Myridakis A, Dumas ME, Bruneau A, Cherbuy C, Langella P, Callebert J, Launay JM, Chabry J, Barik J, Le Merrer J, Glaichenhaus N, Davidovic L. The microbial metabolite p-Cresol induces autistic-like behaviors in mice by remodeling the gut microbiota. Microbiome. 2021; 9(1): 157.

BACKGROUND: Autism spectrum disorders (ASD) are associated with dysregulation of the microbiota-gut-brain axis, changes in microbiota composition as well as in the fecal, serum, and urine levels of microbial metabolites. Yet a causal relationship between dysregulation of the microbiota-gut-brain axis and ASD remains to be demonstrated. Here, we hypothesized that the microbial metabolite p-Cresol, which is more abundant in ASD patients compared to neurotypical individuals, could induce ASD-like behavior in mice. RESULTS: Mice exposed to p-Cresol for 4 weeks in drinking water presented social behavior deficits, stereotypies, and perseverative behaviors, but no changes in anxiety, locomotion, or cognition. Abnormal social behavior induced by p-Cresol was associated with decreased activity of central dopamine neurons involved in the social reward circuit. Further, p-Cresol induced changes in microbiota composition and social behavior deficits could be transferred from p-Cresol-treated mice to control mice by fecal microbiota transplantation (FMT). We also showed that mice transplanted with the microbiota of p-Cresol-treated mice exhibited increased fecal p-Cresol excretion, compared to mice transplanted with the microbiota of control mice. In addition, we identified possible p-Cresol bacterial producers. Lastly, the microbiota of control mice rescued social interactions, dopamine neurons excitability, and fecal p-Cresol levels when transplanted to p-Cresol-treated mice. CONCLUSIONS: The microbial metabolite p-Cresol induces selectively ASD core behavioral symptoms in mice. Social behavior deficits induced by p-Cresol are dependant on changes in microbiota composition. Our study paves the way for therapeutic interventions targeting the microbiota and p-Cresol production to treat patients with ASD. Video abstract.

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3. Bruni O, Melegari MG, Breda M, Cedrone A, Finotti E, Malorgio E, Doria M, Ferri R. Impact of COVID-19 lockdown on sleep in children with autism spectrum disorders. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 2022; 18(1): 137-43.

STUDY OBJECTIVES: The impact of the COVID-19 outbreak on sleep of participants with autism spectrum disorder (ASD) was assessed. METHODS: Parents of 111 children and adolescents with ASD filled out an anonymous online survey shared via social media, investigating the sleep patterns and disturbances before and during the lockdown. RESULTS: The lockdown changed significantly the bedtime on weekdays in 57.8% of participants with ASD (56.9% delayed; 0.9% advanced) and the rise time in 69.2% (61.7% delayed and 7.5% advanced). Sleep duration varied on weekdays in 49.1% (24.1% increased; 25% decreased). During the lockdown, participants with ASD showed a significant increase of sleep disturbances, compared to the preceding period, especially falling asleep (35.1% vs 22.5%), anxiety at bedtime (22.5% vs 10.8%), sleep terrors (5.4% vs 0%), and daytime sleepiness (14.4% vs 3.6%). CONCLUSIONS: Lockdown affected sleep of patients with ASD, showing an increase of difficulty in falling asleep, anxiety at bedtime, sleep terrors, and daytime sleepiness. The outbreak of COVID-19 significantly worsened sleep disturbances of children with ASD. CITATION: Bruni O, Melegari MG, Breda M, et al. Impact of COVID-19 lockdown on sleep in children with autism spectrum disorders. J Clin Sleep Med. 2022;18(1):137-143.

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4. Drüsedau L, Schoba A, Conzelmann A, Sokolov A, Hautzinger M, Renner TJ, Barth GM. A structured group intervention (TüTASS) with focus on self-perception and mindfulness for children with autism spectrum disorder, ASD. A pilot study. European archives of psychiatry and clinical neuroscience. 2022; 272(2): 177-85.

Autism spectrum disorders (ASD) represent a set of long-lasting severe neurodevelopmental conditions and effective therapeutic interventions are needed. Recent research points to the importance of including mindfulness-based elements to improve emotion and body perception in the psychotherapy of patients with ASD. Therefore, we developed a structured group psychotherapy program The Tübinger Training for Autism Spectrum Disorders (Tübinger Training für Autismus-Spektrum-Störungen; TüTASS) which focuses on mindfulness-based training elements. This pilot study accompanying the TüTASS reports the first results on the feasibility of the program with a pre-post comparison of 25 treated children with ASD. The psychometric assessment comprised five standardized questionnaires/ scales evaluating on the basis of parents and patients self-reports the child’s social responsiveness, behavior, strengths and difficulties, quality of life, and depressive symptoms before and after training completion. The results indicated that upon training completion, symptoms with respect to emotional and social problems, externalizing behavior, and attentional and schizoid-compulsive behavior substantially declined. In a questionnaire assessing feasibility and quality of the group training, patients and parents found the therapy highly beneficial, especially as to the focus on emotions and body, and strengths and failures. This training program was developed to bridge the gap of lacking mindfulness-based interventions with the aim to optimize the course of ASD, especially with respect to behavioral disturbances and social-emotional problems.

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5. Esposito G, Setoh P. Parental involvement in developmental disabilities across cultures. Research in developmental disabilities. 2021; 116: 104023.

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6. Friesen KA, Weiss JA, Howe SJ, Kerns CM, McMorris CA. Mental Health and Resilient Coping in Caregivers of Autistic Individuals during the COVID-19 Pandemic: Findings from the Families Facing COVID Study. Journal of autism and developmental disorders. 2021: 1-11.

Many caregivers of autistic people experience mental health issues, and the impact of disruptions due to COVID-19 may present additional challenges for these individuals. This study characterized caregiver stress, anxiety, and resilient coping during COVID-19 and investigated the impact of COVID-19 disruptions, demographic variables, and resilient coping on mental health. The majority of caregivers reported some degree of disruption associated with COVID-19, and more than half reported moderate levels of stress and high anxiety. Resilient coping did not emerge as a moderator between COVID-19 disruptions and caregiver mental health, but instead had a direct effect on outcomes. Future research is needed to understand additional factors impacting the mental health of caregivers of autistic people during the COVID-19 pandemic.

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7. Gannon S, Abdelrazek A, Keller K, Rockhill C, Kim SJ. Psychotropic Medication Prescribing for Youth at a Regional Autism Center. Journal of child and adolescent psychopharmacology. 2021; 31(10): 653-8.

Objectives: The Seattle Children’s Autism Center (SCAC) serves youth throughout Washington state (WA). The authors examined (1) whether the ethnicity and race of patients seen at the SCAC aligned with the demographics reported in the WA census, and (2) whether psychotropic medication prescriptions were associated with patient factors, including age, sex, ethnicity, race, insurance, visit number, and diagnoses. Methods: The authors extracted demographic and prescription data from electronic medical records for all patients (3-21 years) seen at the SCAC in 2018 for psychiatric medication evaluation in the context of autism spectrum disorder (ASD) and/or other related neurodevelopmental disorder (n = 1112), and used binary logistic regression to ascertain the effects of patient factors on psychotropic prescriptions. Results: The SCAC study sample appeared to align well with the WA census. Older age and higher visit number were among the most significant factors associated with psychotropic prescriptions. Psychotropic prescriptions increased with age, across all categories, except attention-deficit/hyperactivity disorder medications. There were no sex differences in prescribing rates. There were differences in prescribing rates by ethnicity and race. There were also increased prescription rates among those with Medicaid insurance. Conclusion: These demographic differences in prescribing for youth with ASD provide more specificity than prior studies about sex, ethnic, racial, and insurance-related differences, and can serve as an impetus to examine the reasons for variance.

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8. Heyes C, Catmur C. What Happened to Mirror Neurons?. Perspectives on psychological science : a journal of the Association for Psychological Science. 2022; 17(1): 153-68.

Ten years ago, Perspectives in Psychological Science published the Mirror Neuron Forum, in which authors debated the role of mirror neurons in action understanding, speech, imitation, and autism and asked whether mirror neurons are acquired through visual-motor learning. Subsequent research on these themes has made significant advances, which should encourage further, more systematic research. For action understanding, multivoxel pattern analysis, patient studies, and brain stimulation suggest that mirror-neuron brain areas contribute to low-level processing of observed actions (e.g., distinguishing types of grip) but not to high-level action interpretation (e.g., inferring actors’ intentions). In the area of speech perception, although it remains unclear whether mirror neurons play a specific, causal role in speech perception, there is compelling evidence for the involvement of the motor system in the discrimination of speech in perceptually noisy conditions. For imitation, there is strong evidence from patient, brain-stimulation, and brain-imaging studies that mirror-neuron brain areas play a causal role in copying of body movement topography. In the area of autism, studies using behavioral and neurological measures have tried and failed to find evidence supporting the « broken-mirror theory » of autism. Furthermore, research on the origin of mirror neurons has confirmed the importance of domain-general visual-motor associative learning rather than canalized visual-motor learning, or motor learning alone.

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9. Huang Y, Arnold SRC, Foley KR, Trollor JN. Choose your Own Adventure: Pathways to Adulthood Autism Diagnosis in Australia. Journal of autism and developmental disorders. 2021.

Pathways to diagnosis in adulthood are poorly understood. Even less is known about undiagnosed adults who believe they may be autistic. This mixed-methods online survey examined adults’ journeys from initial concern to receiving the diagnosis. Quantitative findings showed the diagnostic process to be highly heterogeneous. Qualitative analysis identified desires for explanation and support as motives for seeking diagnosis. Cost and fear of not being taken seriously were major barriers, echoed by qualitative responses that described the process as confusing, expensive and time-consuming. While most participants were satisfied with the diagnosis, their emotional reactions were complex. Findings support the need for thoroughly implementing national guidelines, and for improved knowledge and communication in mainstream clinicians encountering clients with possible autism characteristics.

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10. Kamp-Becker I, Stroth S, Poustka L. [Not Available]. Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie. 2021; 49(4): 241-7.

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11. Kenworthy L, Verbalis A, Bascom J, daVanport S, Strang JF, Pugliese C, Freeman A, Jeppsen C, Armour AC, Jost G, Hardy K, Wallace GL. Adding the missing voice: How self-report of autistic youth self-report on an executive functioning rating scale compares to parent report and that of youth with attention deficit hyperactivity disorder or neurotypical development. Autism : the international journal of research and practice. 2022; 26(2): 422-33.

Executive functions are often impaired in autistic people and relate to important outcomes such as mental health, success in school and work, and quality of life. Evaluating executive functions helps autistic people, clinicians, and families identify targets for external supports and skill building. Youth self-report of executive function has not been studied, yet we know that self-report from autistic youth is key to understanding other cognitive/behavioral phenomena in autism such as anxiety, obsessions/compulsions, sensory sensitivities, and repetitive behaviors. We investigated self- and parent-report of executive function problems in 197 autistic youth without intellectual disability (ages 11-18 years), including the magnitude and profiles of executive function problems autistic youth report across subdomains of executive function. We compared autistic self-report with that of 114 youth with attention deficit hyperactivity disorder without intellectual disability and 197 neurotypical youth. We found that autistic youth report significant executive function problems compared to neurotypical youth and a distinctive profile of challenges in comparison to attention deficit hyperactivity disorder youth. Parents and their autistic children diverged regarding the magnitude of the youth’s executive function difficulties, but both identify inflexibility as the most impaired executive function subdomain. Autistic youth and their parents were somewhat more concordant in their report of executive function problems than youth with attention deficit hyperactivity disorder and their parents, but only showed moderate concordance at best. These findings elevate the importance of asking autistic youth directly about their executive functioning when engaging them in assessment and intervention, or researching executive functions in autism.

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12. Koelkebeck K, Bauer J, Suslow T, Ohrmann P. Case of Asperger’s Syndrome and Lesion of the Right Amygdala: Deficits in Implicit and Explicit Fearful Face Recognition. Frontiers in psychology. 2021; 12: 677549.

Introduction: Studies of brain-damaged patients revealed that amygdala lesions cause deficits in the processing and recognition of emotional faces. Patients with autism spectrum disorders (ASD) have similar deficits also related to dysfunctions of the limbic system including the amygdala. Methods: We investigated a male patient who had been diagnosed with Asperger’s syndrome. He also presented with a lesion of the right mesial temporal cortex, including the amygdala. We used functional magnetic resonance imaging (fMRI) to investigate neuronal processing during a passive viewing task of implicit and explicit emotional faces. Clinical assessment included a facial emotion recognition task. Results: There was no amygdala activation on both sides during the presentation of masked emotional faces compared to the no-face control condition. Presentation of unmasked happy and angry faces activated the left amygdala compared to the no-face control condition. There was no amygdala activation in response to unmasked fearful faces on both sides. In the facial emotion recognition task, the patient biased positive and neutral expressions as negative. Conclusions: This case report describes a male patient with right amygdala damage and an ASD. He displayed a non-response of the amygdala to fearful faces and tended to misinterpret fearful expressions. Moreover, a non-reactivity of both amygdalae to emotional facial expressions at an implicit processing level was revealed. It is discussed whether the deficient implicit processing of facial emotional information and abnormalities in fear processing could contribute and aggravate the patient’s impairments in social behavior and interaction.

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13. Krieger I, Erez G, Weinstein O, Cohen AD, Tzur Bitan D. COVID-19 Morbidity Among Individuals with Autistic Spectrum Disorder: A Matched Controlled Population-Based Study. Journal of autism and developmental disorders. 2021: 1-6.

In this study we aimed to assess whether individuals with ASD are prone to higher infection rates, or to severe COVID-19 illness. Individuals with ASD and age- and gender-matched controlled counterparts (total n = 32,812) were assessed for COVID-19 infection rates and hospitalizations. Results indicated higher infection rates among individuals with ASD, with the largest effect among individuals aged 40-60 (OR = 2.05, 95%CI 1.33-3.15, p < .001), as well as higher odds for hospitalizations, evident primarily in men (OR = 2.40, 95%CI 1.14-5.02, p = 0.02) but not women. Medical and environmental risk factors may associate ASD with higher infection and morbidity rates. Healthcare policy providers should consider proactive steps to protect this population from the associated risks.

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14. Meng C, Huo C, Ge H, Li Z, Hu Y, Meng J. Processing of expressions by individuals with autistic traits: Empathy deficit or sensory hyper-reactivity?. PloS one. 2021; 16(7): e0254207.

Individuals with autistic traits display impaired social interaction and communication in everyday life, but the underlying cognitive neural mechanisms remain very unclear and still remain controversial. The mind-blindness hypothesis suggests that social difficulties in individuals with autistic traits are caused by empathy impairment in individuals; however, the intense world theory suggests that these social difficulties are caused by sensory hyper-reactivity and sensory overload, rather than empathy impairment. To further test these two theories, this study investigated event-related potentials (ERPs) to explore the cognitive neural processing of repetitive expressions in individuals with autistic traits. This study employed the Mandarin version of the autism-spectrum quotient (AQ) to assess autistic traits in 2,502 healthy adults. Two subset groups were used, e.g., the participants of a high-AQ group were randomly selected among the 10% of individuals with the highest AQ scores; similarly, the participants in the low-AQ group were randomly selected from the 10% of participants with the lowest AQ scores. In an experiment, three different facial expressions (positive, neutral, or negative) of the same person were presented successively and pseudo-randomly in each trial. Participants needed to define the expression of the face that was presented last. The results showed that compared with the low-AQ group, the high-AQ group exhibited higher P1 amplitudes induced by the second and third presented expressions, as well as higher P3 amplitudes induced by the third presented negative expressions. This indicates that individuals with autistic traits may experience overly strong perception, attention, and cognitive evaluation to repetitive expressions, particularly negative expressions. This result supports the intense world theory more strongly than the mind-blindness hypothesis.

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15. Oztan O, Talbot CF, Argilli E, Maness AC, Simmons SM, Mohsin N, Del Rosso LA, Garner JP, Sherr EH, Capitanio JP, Parker KJ. Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys. Molecular autism. 2021; 12(1): 50.

BACKGROUND: Rhesus monkeys (Macaca mulatta) exhibit pronounced individual differences in social traits as measured by the macaque Social Responsiveness Scale-Revised. The macaque Social Responsiveness Scale was previously adapted from the Social Responsiveness Scale, an instrument designed to assess social and autistic trait variation in humans. To better understand potential biological underpinnings of this behavioral variation, we evaluated the trait-like consistency of several biological measures previously implicated in autism (e.g., arginine vasopressin, oxytocin, and their receptors, as well as ERK1/2, PTEN, and AKT(1-3) from the RAS-MAPK and PI3K-AKT pathways). We also tested which biological measures predicted macaque Social Responsiveness Scale-Revised scores. METHODS: Cerebrospinal fluid and blood samples were collected from N = 76 male monkeys, which, as a sample, showed a continuous distribution on the macaque Social Responsiveness Scale-Revised. In a subset of these subjects (n = 43), samples were collected thrice over a 10-month period. The following statistical tests were used: « Case 2A » intra-class correlation coefficients of consistency, principal component analysis, and general linear modeling. RESULTS: All biological measures (except AKT) showed significant test-retest reliability within individuals across time points. We next performed principal component analysis on data from monkeys with complete biological measurement sets at the first time point (n = 57), to explore potential correlations between the reliable biological measures and their relationship to macaque Social Responsiveness Scale-Revised score; a three-component solution was found. Follow-up analyses revealed that cerebrospinal fluid arginine vasopressin concentration, but no other biological measure, robustly predicted individual differences in macaque Social Responsiveness Scale-Revised scores, such that monkeys with the lowest cerebrospinal fluid arginine vasopressin concentration exhibited the greatest social impairment. Finally, we confirmed that this result held in the larger study sample (in which cerebrospinal fluid arginine vasopressin values were available from n = 75 of the subjects). CONCLUSIONS: These findings indicate that cerebrospinal fluid arginine vasopressin concentration is a stable trait-like measure and that it is linked to quantitative social trait variation in male rhesus monkeys.

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16. Peng S, Xu R, Yi X, Hu X, Liu L, Liu L. Early Screening of Children With Autism Spectrum Disorder Based on Electroencephalogram Signal Feature Selection With L1-Norm Regularization. Frontiers in human neuroscience. 2021; 15: 656578.

Early screening is vital and helpful for implementing intensive intervention and rehabilitation therapy for children with autism spectrum disorder (ASD). Research has shown that electroencephalogram (EEG) signals can reflect abnormal brain function of children with ASD, and screening with EEG signals has the characteristics of good real-time performance and high sensitivity. However, the existing EEG screening algorithms mostly focus on the data analysis in the resting state, and the extracted EEG features have some disadvantages such as weak representation capacity and information redundancy. In this study, we utilized the event-related potential (ERP) technique to acquire the EEG data of the subjects under positive and negative emotional stimulation and proposed an EEG Feature Selection Algorithm based on L1-norm regularization to perform screening of autism. The proposed EEG Feature Selection Algorithm includes the following steps: (1) extracting 20 EEG features from the raw data, (2) classification with support vector machine, (3) selecting appropriate EEG feature with L1-norm regularization according to the classification performance. The experimental results show that the accuracy for screening of children with ASD can reach 93.8% and 87.5% under positive and negative emotional stimulation and the proposed algorithm can effectively eliminate redundant features and improve screening accuracy.

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17. Tsompanidis A, Aydin E, Padaigaitė E, Richards G, Allison C, Hackett G, Austin T, Holt R, Baron-Cohen S. Maternal steroid levels and the autistic traits of the mother and infant. Molecular autism. 2021; 12(1): 51.

BACKGROUND: Prenatal sex steroids have been associated with autism in several clinical and epidemiological studies. It is unclear how this relates to the autistic traits of the mother and how early this can be detected during pregnancy and postnatal development. METHODS: Maternal serum was collected from pregnant women (n = 122) before or during their first ultrasound appointment [mean = 12.7 (SD = 0.7) weeks]. Concentrations of the following were measured via immunoassays: testosterone, estradiol, dehydroepiandrosterone sulphate, progesterone; and sex hormone-binding globulin which was used to compute the free fractions of estradiol (FEI) and testosterone (FTI). Standardised human choriogonadotropin (hCG) and pregnancy-associated plasma protein A (PAPP-A) values were obtained from clinical records corresponding to the same serum samples. Mothers completed the Autism Spectrum Quotient (AQ) and for their infants, the Quantitative Checklist for Autism in Toddlers (Q-CHAT) when the infants were between 18 and 20 months old. RESULTS: FEI was positively associated with maternal autistic traits in univariate (n = 108, Pearson’s r = 0.22, p = 0.019) and multiple regression models (semipartial r = 0.19, p = 0.048) controlling for maternal age and a diagnosis of PCOS. Maternal estradiol levels significantly interacted with fetal sex in predicting infant Q-CHAT scores, with a positive relationship in males but not females (n = 100, interaction term: semipartial r = 0.23, p = 0.036) after controlling for maternal AQ and other covariates. The opposite was found for standardised hCG values and Q-CHAT scores, with a positive association in females but not in males (n = 151, interaction term: r = -0.25, p = 0.005). LIMITATIONS: Sample size of this cohort was small, with potential ascertainment bias given elective recruitment. Clinical covariates were controlled in multiple regression models, but additional research is needed to confirm the statistically significant findings in larger cohorts. CONCLUSION: Maternal steroid factors during pregnancy are associated with autistic traits in mothers and their infants.

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18. van der Linden K, Simons C, Viechtbauer W, Ottenheijm E, van Amelsvoort T, Marcelis M. A momentary assessment study on emotional and biological stress in adult males and females with autism spectrum disorder. Scientific reports. 2021; 11(1): 14160.

Prospective momentary psychological and biological measures of real-time daily life stress experiences have been examined in several psychiatric disorders, but not in adults with an autism spectrum disorder (ASD). The current electronic self-monitoring study examined associations between momentary daily life stressors and (i) negative affect (NA; emotional stress reactivity) and (ii) cortisol levels (biological stress reactivity) in males and females with ASD (N = 50) and without ASD (N = 51). The Experience Sampling Method, including saliva sampling, was used to measure three types of daily life stress (activity-related, event-related, and social stress), NA, and cortisol. Multilevel regression analyses demonstrated significant interactions between group and stress (i.e., activity-related and event-related stress) in the model of NA, indicating stronger emotional stress reactivity in the ASD than in the control group. In the model of cortisol, none of the group × stress interactions were significant. Male/female sex had no moderating effect on either emotional or biological stress reactivity. In conclusion, adults with ASD showed a stronger emotional stress (but not cortisol) reactivity in response to unpleasant daily life events and activities. The findings highlight the feasibility of electronic self-monitoring in individuals with ASD, which may contribute to the development of more personalized stress-management approaches.

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19. Walsh JJ, Llorach P, Cardozo Pinto DF, Wenderski W, Christoffel DJ, Salgado JS, Heifets BD, Crabtree GR, Malenka RC. Systemic enhancement of serotonin signaling reverses social deficits in multiple mouse models for ASD. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2021; 46(11): 2000-10.

Autism spectrum disorder (ASD) is a common set of heterogeneous neurodevelopmental disorders resulting from a variety of genetic and environmental risk factors. A core feature of ASD is impairment in prosocial interactions. Current treatment options for individuals diagnosed with ASD are limited, with no current FDA-approved medications that effectively treat its core symptoms. We recently demonstrated that enhanced serotonin (5-HT) activity in the nucleus accumbens (NAc), via optogenetic activation of 5-HTergic inputs or direct infusion of a specific 5-HT1b receptor agonist, reverses social deficits in a genetic mouse model for ASD based on 16p11.2 copy number variation. Furthermore, the recreational drug MDMA, which is currently being evaluated in clinical trials, promotes sociability in mice due to its 5-HT releasing properties in the NAc. Here, we systematically evaluated the ability of MDMA and a selective 5-HT1b receptor agonist to rescue sociability deficits in multiple different mouse models for ASD. We find that MDMA administration enhances sociability in control mice and reverses sociability deficits in all four ASD mouse models examined, whereas administration of a 5-HT1b receptor agonist selectively rescued the sociability deficits in all six mouse models for ASD. These preclinical findings suggest that pharmacological enhancement of 5-HT release or direct 5-HT1b receptor activation may be therapeutically efficacious in ameliorating some of the core sociability deficits present across etiologically distinct presentations of ASD.

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20. Zhang W, Xiong BR, Zhang LQ, Huang X, Yuan X, Tian YK, Tian XB. The Role of the GABAergic System in Diseases of the Central Nervous System. Neuroscience. 2021; 470: 88-99.

It is well known that the central nervous system (CNS) is a complex neuronal network and its function depends on the balance between excitatory and inhibitory neurons. Disruption of the excitatory/inhibitory (E/I) balance is the main cause for the majority of the CNS diseases. In this review, we will discuss roles of the inhibitory system in the CNS diseases. The GABAergic system as the main inhibitory system, is essential for the appropriate functioning of the CNS, especially as it is engaged in the formation of learning and memory. Many researchers have reported that the GABAergic system is involved in regulating synaptic plasticity, cognition and long-term potentiation. Some clinical manifestations (such as cognitive dysfunctions, attention deficits, etc.) have also been shown to emerge after abnormalities in the GABAergic system accompanied with concomitant diseases, that include Alzheimer’s disease (AD), Parkinson’s disease (PD), Autism spectrum disorder (ASD), Schizophrenia, etc. The GABAergic system consists of GABA, GABA transporters, GABAergic receptors and GABAergic neurons. Changes in any of these components may contribute to the dysfunctions of the CNS. In this review, we will synthesize studies which demonstrate how the GABAergic system participates in the pathogenesis of the CNS disorders, which may provide a new idea that might be used to treat the CNS diseases.

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21. Zhang Y, Liu X, Guo R, Xu W, Guo Q, Hao C, Ni X, Li W. Biological implications of genetic variations in autism spectrum disorders from genomics studies. Bioscience reports. 2021; 41(7).

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental condition characterized by atypical social interaction and communication together with repetitive behaviors and restricted interests. The prevalence of ASD has been increased these years. Compelling evidence has shown that genetic factors contribute largely to the development of ASD. However, knowledge about its genetic etiology and pathogenesis is limited. Broad applications of genomics studies have revealed the importance of gene mutations at protein-coding regions as well as the interrupted non-coding regions in the development of ASD. In this review, we summarize the current evidence for the known molecular genetic basis and possible pathological mechanisms as well as the risk genes and loci of ASD. Functional studies for the underlying mechanisms are also implicated. The understanding of the genetics and genomics of ASD is important for the genetic diagnosis and intervention for this condition.

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22. Zhukova MA, Talantseva OI, An I, Grigorenko EL. Brief Report: Unexpected Bilingualism: A Case of a Russian Child With ASD. Journal of autism and developmental disorders. 2021.

Some children with autism spectrum disorders (ASD) demonstrate unusual islets of abilities or « splinter skills » that represent relative strengths in their development. In this paper we present a clinical case of an 11-year-old Russian boy with ASD who spontaneously acquired the English language. While the child demonstrated language deficits in both English and Russian, the discrepancy between the languages was paradoxical given the lack of exposure to English language. This case study brings into question the importance of a language environment for children with ASD. Alternative pathway to language acquisition is discussed. We hypothesize that that incidental second language acquisition in children with ASD resulting from media exposure could become more frequent with the availability of the Internet.

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