Pubmed du 16/09/22

Pubmed du jour

1. Abolghasemi A, Carullo MP, Aguilera EC, Laroui A, Plantefeve R, Rojas D, Benachenhou S, Ramírez MV, Proteau-Lemieux M, Lepage JF, Corbin F, Plourde M, Farez M, Cogram P, Çaku A. Alteration of Fatty Acid Profile in Fragile X Syndrome. Int J Mol Sci;2022 (Sep 16);23(18)

Fragile X Syndrome (FXS) is the most prevalent monogenic cause of Autism Spectrum Disorders (ASDs). Despite a common genetic etiology, the affected individuals display heterogenous metabolic abnormalities including hypocholesterolemia. Although changes in the metabolism of fatty acids (FAs) have been reported in various neuropsychiatric disorders, it has not been explored in humans with FXS. In this study, we investigated the FA profiles of two different groups: (1) an Argentinian group, including FXS individuals and age- and sex-matched controls, and (2) a French-Canadian group, including FXS individuals and their age- and sex-matched controls. Since phospholipid FAs are an indicator of medium-term diet and endogenous metabolism, we quantified the FA profile in plasma phospholipids using gas chromatography. Our results showed significantly lower levels in various plasma FAs including saturated, monosaturated, ω-6 polyunsaturated, and ω-3 polyunsaturated FAs in FXS individuals compared to the controls. A decrease in the EPA/ALA (eicosapentaenoic acid/alpha linoleic acid) ratio and an increase in the DPA/EPA (docosapentaenoic acid/eicosapentaenoic acid) ratio suggest an alteration associated with desaturase and elongase activity, respectively. We conclude that FXS individuals present an abnormal profile of FAs, specifically FAs belonging to the ω-3 family, that might open new avenues of treatment to improve core symptoms of the disorder.

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2. Arnell S, Jerlinder K, Lundqvist LO. Feasibility of Using Q-Sort to Map Conditional Participation in Physical Activity in Adolescents With Autism Spectrum Disorder. Adapt Phys Activ Q;2022 (Sep 16):1-23.

BACKGROUND: Participation in physical activity among adolescents with autism is often conditional. However, there is a lack of methods for identifying these specific conditions. Therefore, the purpose of this study was to develop and investigate the feasibility of a Q-sort tool to map individual-specific conditions for participation in physical activity among adolescents with autism and to identify different viewpoints regarding conditions for such participation. METHOD: An exploratory mixed-methods design was employed to investigate the feasibility of using Q methodology and the Q-sort procedure to identify what individual-specific conditions are important for participation in physical activity for adolescents with autism. RESULTS: The adolescents ranked the statements with varying levels of ease. Two viewpoints were identified: Autonomous participation without surprises and Enjoyment of activity in a safe social context. CONCLUSION: Q-sort is a feasible method for mapping conditions for participation, which can guide the development of tailored physical activity interventions.

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3. Bouw N, Swaab H, Tartaglia N, Wilson RL, Van der Velde K, van Rijn S. Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention. Eur Child Adolesc Psychiatry;2022 (Sep 15)

The objective of the present study is to investigate the impact of Sex Chromosome Trisomy (SCT; XXX, XXY, XYY) on the early appearance of Autism Spectrum Disorder (ASD) symptoms, and the predictive value of Joint Attention for symptoms of ASD. SCTs are specific genetic conditions that may serve as naturalistic ‘at risk’ models of neurodevelopment, as they are associated with increased risk for neurobehavioral vulnerabilities. A group of 82 children with SCT (aged 1-8 years) was included at baseline of this longitudinal study. Joint Attention was measured at baseline with structured behavior observations according to the Early Social Communication Scales. ASD symptoms were assessed with the Modified Checklist for Autism in Toddlers questionnaire and Autism Diagnostic Interview-Revised in a 1-year follow-up. Recruitment and assessment took place in the Netherlands and in the United States. The results demonstrate that ASD symptoms were substantially higher in children with SCT compared to the general population, with 22% of our cohort at clinical risk for ASD, especially in the domain of social interaction and communication. Second, a predictive value of Joint Attention was found for ASD symptoms at 1-year follow-up. In this cohort, no differences were found between karyotype-subtypes. In conclusion, from a very early age, SCT can be associated with an increased risk for vulnerabilities in adaptive social functioning. These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.

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4. Bouzroud W, Tazzite A, Berrada S, Gazzaz B, Dehbi H. R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report. Clin Pathol;2022 (Jan-Dec);15:2632010X221124269.

Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features. The Rett syndrome is associated with a broad phenotypic spectrum. It ranges from a classical Rett syndrome defined by well-established criteria to atypical cases with symptoms similar to other syndromes, such as Angelman syndrome. The first case of a Moroccan female child carrying a R306X mutation in the MECP2 (Methyl-CpG-Binding Protein 2) gene, with an unusual manifestation of Rett syndrome, is presented here. She showed autistic regression, behavioral stagnation, epilepsy, unmotivated laughter, and craniofacial dysmorphia. Whole exome sequencing revealed a nonsense mutation (R306X), resulting in a truncated, nonfunctional MECP2 protein. The overlapping phenotypic spectrums between Rett and Angelman syndromes have been described, and an interaction between the MECP2 gene and the UBE3A (Ubiquitin Protein Ligase E3A) gene pathways is possible but has not yet been proven. An extensive genetic analysis is highly recommended in atypical cases to ensure an accurate diagnosis and to improve patient management and genetic counseling.

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5. Chakraborty S, Parayil R, Mishra S, Nongthomba U, Clement JP. Epilepsy Characteristics in Neurodevelopmental Disorders: Research from Patient Cohorts and Animal Models Focusing on Autism Spectrum Disorder. Int J Mol Sci;2022 (Sep 16);23(18)

Epilepsy, a heterogeneous group of brain-related diseases, has continued to significantly burden society and families. Epilepsy comorbid with neurodevelopmental disorders (NDDs) is believed to occur due to multifaceted pathophysiological mechanisms involving disruptions in the excitation and inhibition (E/I) balance impeding widespread functional neuronal circuitry. Although the field has received much attention from the scientific community recently, the research has not yet translated into actionable therapeutics to completely cure epilepsy, particularly those comorbid with NDDs. In this review, we sought to elucidate the basic causes underlying epilepsy as well as those contributing to the association of epilepsy with NDDs. Comprehensive emphasis is put on some key neurodevelopmental genes implicated in epilepsy, such as MeCP2, SYNGAP1, FMR1, SHANK1-3 and TSC1, along with a few others, and the main electrophysiological and behavioral deficits are highlighted. For these genes, the progress made in developing appropriate and valid rodent models to accelerate basic research is also detailed. Further, we discuss the recent development in the therapeutic management of epilepsy and provide a briefing on the challenges and caveats in identifying and testing species-specific epilepsy models.

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6. F NG, Brennan A, Bolshakova N, Foley M, Gallagher L, Lopez LM. Establishing an Irish autism research network. Ir J Psychol Med;2022 (Sep 15):1-2.

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7. Ferguson J, Dounavi K, Craig EA. Correction to: The Efficacy of Using Telehealth to Coach Parents of Children with Autism Spectrum Disorder on How to Use Naturalistic Teaching to Increase Mands, Tacts and Intraverbals. J Dev Phys Disabil;2022 (Sep 9):1-4.

[This corrects the article DOI: 10.1007/s10882-022-09859-4.].

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8. Hood SA, Gopez JM, Fallon MJ, Byczynski FA, Aquino SC, Monroy S. The beginning of a friendship: Teaching individuals with autism to identify shared interests. J Appl Behav Anal;2022 (Sep 15)

Individuals with conversation skill deficits often have difficulties discriminating cues of interest and uninterest from their conversation partner(s). We used behavioral skills training (BST) to teach 3 individuals with autism spectrum disorder to converse about the conversation partner’s topics of interest, initiate strategic preferred topics to identify shared interests after indices of uninterest, and end the conversation. We assessed generality of each skill across conversation partners and ratings of social acceptability. We replicated previous research on BST producing robust increases in following the conversation, shifting the topic of conversation, and ending the conversation. In addition, all participants learned to categorize shared interests. We observed overall high levels of generality across following, shifting, and ending the conversation with all conversation partners. However, for 2 out of the 3 participants the inclusion of rules was necessary to promote the generality of the intraverbal categorization response. We discuss the implication of these findings for clinical practice and future research.

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9. Hou Y, Yan T, Deng M. A Qualitative Study on Parental Experience of Involvement in the Transition from Kindergarten to Primary School for Chinese Children with Intellectual and Developmental Disabilities. J Autism Dev Disord;2022 (Sep 15):1-16.

Parental involvement plays a vital role in the transition from kindergarten to primary school among children with intellectual and developmental disabilities (IDDs); this study aims to explore Chinese parents’ experiences of parental involvement during this period. Informed by interpretive phenomenological analysis, semi-structured, one-on-one interviews were held with 10 parents. Three major themes were identified: (1) « aggressive » involvement; (2) factors in transforming parental involvement; and (3) « rational » involvement. Participants reported their perceptions, attitudes, and parenting behaviors in different phases of involvement in the transition to primary school. These findings highlight the need to support parents of children with IDDs during this time of change.

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10. Hu J, Zhou W, Fu Z, Zeng X, Huang C. Influence of Family Sports Games on the Development of Early Communication Skills in Autistic Children. J Environ Public Health;2022;2022:2621476.

With the development of society, the number of autistic children in China is increasing, which not only makes the family’s happiness very low, but also seriously affects the development of teenagers and society. Among the symptoms of autistic children, early childhood communication skills have received extensive attention. In traditional rehabilitation training, with a lack of parents’ participation, most of the training cannot arouse the interest of autistic children, so the treatment effect is not obvious. Based on this, this paper proposes the application of family sports games to improve the early communication ability of autistic children. This article aims to investigate the role of family sports games in promoting the development of early communication skills in autistic children. This paper uses the fuzzy comprehensive evaluation method to score the comprehensive ability of family sports games. The experimental results of this paper show that before the experiment, the comprehensive scores of children’s communication ability in the control group and the experimental group were 18.92 and 18, respectively, which were generally low, and there was no significant difference. This shows that the communication skills of the two groups of children before the experiment are relatively poor. After the test, the children’s comprehensive score of communication ability in the experimental group increased by 35.8 points, and the difference was significant, indicating that family sports games have a great impact on the development of children’s communication ability.

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11. Jarrige D, Nadalig T, Joly M, Sancelme M, Vuilleumier S, Amato P, Bringel F. Complete Genome of Sphingomonas aerolata PDD-32b-11, Isolated from Cloud Water at the Summit of Puy de Dôme, France. Microbiol Resour Announc;2022 (Sep 15):e0068422.

The complete genome of Sphingomonas aerolata PDD-32b-11, a bacterium isolated from cloud water, was sequenced. It features four circular replicons, a chromosome of 3.99 Mbp, and three plasmids. Two putative rhodopsin-encoding genes were detected which might act as proton pumps to harvest light energy.

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12. Kane CL, DeBar RM. A Descriptive Review of Telehealth for Individuals With Autism Spectrum Disorder. Behav Modif;2022 (Sep 16):1454455221121085.

Since the early 2000s, telehealth has been used to provide behavior analytic intervention to individuals with autism spectrum disorder (ASD). Evaluating evidence supporting telehealth remains valuable, especially as there has been increased accessibility since the COVID-19 pandemic. Although there is empirical support for telehealth as an effective service-delivery option, important variables (e.g., costs, implementer training) remain unknown. Despite potential roles in telehealth service-delivery models, a careful review of participant prerequisite skills, implementer characteristics (e.g., experience, education), technology variables (e.g., HIPAA compliance), and skill(s) targeted (i.e., mastered or untrained skills) have not been considered. Therefore, we aimed to extend prior telehealth literature reviews by evaluating current research across variables important for telehealth service-delivery involving individuals with ASD. We found thorough descriptions of participants and implementers, implementer training, and social validity evaluations. Limitations of telehealth literature include exclusion of teen and adult participants, limited description of prerequisite skills and evaluations of direct telehealth interventions. Future research areas were identified.

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13. László K, Vörös D, Kiss O, László BR, Ollmann T, Péczely L, Mintál K, Tóth A, Kovács A, Zagoracz O, Kertes E, Kállai V, Berta B, Karádi Z, Lénárd L. The Role of Intraamygdaloid Oxytocin and D2 Dopamine Receptors in Reinforcement in the Valproate-Induced Autism Rat Model. Biomedicines;2022 (Sep 16);10(9)

BACKGROUND: autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting around 1 out of 68 children and its incidence shows an increasing tendency. There is currently no effective treatment for ASD. In autism research, the valproate (VPA)-induced autism rodent model is widely accepted. Our previous results showed that intraamygdaloid oxytocin (OT) has anxiolytic effects on rats showing autistic signs under the VPA-induced autism model. METHODS: rats were stereotaxically implanted with guide cannulae bilaterally and received intraamygdaloid microinjections. In the present study, we investigated the possible role of intraamygdaloid OT and D2 dopamine (DA) receptors on reinforcement using VPA-treated rats in a conditioned place preference test. OT and/or an OT receptor antagonist or a D2 DA antagonist were microinjected into the central nucleus of the amygdala (CeA). RESULTS: valproate-treated rats receiving 10 ng OT spent significantly longer time in the treatment quadrant during the test session of the conditioned place preference test. Prior treatment with an OT receptor antagonist or with a D2 DA receptor antagonist blocked the positive reinforcing effects of OT. The OT receptor antagonist or D2 DA antagonist in themselves did not influence the time rats spent in the treatment quadrant. CONCLUSIONS: Our results show that OT has positive reinforcing effects under the VPA-induced autism rodent model and these effects are OT receptor-specific. Our data also suggest that the DAergic system plays a role in the positive reinforcing effects of OT because the D2 DA receptor antagonist can block these actions.

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14. Lee JK, Cho ACB, Andrews DS, Ozonoff S, Rogers SJ, Amaral DG, Solomon M, Nordahl CW. Default mode and fronto-parietal network associations with IQ development across childhood in autism. J Neurodev Disord;2022 (Sep 15);14(1):51.

BACKGROUND: Intellectual disability affects approximately one third of individuals with autism spectrum disorder (autism). Yet, a major unresolved neurobiological question is what differentiates autistic individuals with and without intellectual disability. Intelligence quotients (IQs) are highly variable during childhood. We previously identified three subgroups of autistic children with different trajectories of intellectual development from early (2-3½ years) to middle childhood (9-12 years): (a) persistently high: individuals whose IQs remained in the normal range; (b) persistently low: individuals whose IQs remained in the range of intellectual disability (IQ < 70); and (c) changers: individuals whose IQs began in the range of intellectual disability but increased to the normal IQ range. The frontoparietal (FPN) and default mode (DMN) networks have established links to intellectual functioning. Here, we tested whether brain regions within the FPN and DMN differed volumetrically between these IQ trajectory groups in early childhood. METHODS: We conducted multivariate distance matrix regression to examine the brain regions within the FPN (11 regions x 2 hemispheres) and the DMN (12 regions x 2 hemispheres) in 48 persistently high (18 female), 108 persistently low (32 female), and 109 changers (39 female) using structural MRI acquired at baseline. FPN and DMN regions were defined using networks identified in Smith et al. (Proc Natl Acad Sci U S A 106:13040-5, 2009). IQ trajectory groups were defined by IQ measurements from up to three time points spanning early to middle childhood (mean age time 1: 3.2 years; time 2: 5.4 years; time 3: 11.3 years). RESULTS: The changers group exhibited volumetric differences in the DMN compared to both the persistently low and persistently high groups at time 1. However, the persistently high group did not differ from the persistently low group, suggesting that DMN structure may be an early predictor for change in IQ trajectory. In contrast, the persistently high group exhibited differences in the FPN compared to both the persistently low and changers groups, suggesting differences related more to concurrent IQ and the absence of intellectual disability. CONCLUSIONS: Within autism, volumetric differences of brain regions within the DMN in early childhood may differentiate individuals with persistently low IQ from those with low IQ that improves through childhood. Structural differences in brain networks between these three IQ-based subgroups highlight distinct neural underpinnings of these autism sub-phenotypes.

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15. Lozano R, Thompson T, Dixon-Weber J, Erickson CA, Berry-Kravis E, Williams S, Smith E, Frazier JA, Rosselot H, Farmer C, Hessl D. Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel);2022 (Sep 16);13(9)

Caregiver reports, clinical observations, and diagnostic assessments indicate that most individuals with fragile X syndrome experience high levels of chronic anxiety. However, anxiety is a challenging endpoint for outcome measurement in FXS because most individuals cannot reliably report internal emotional or body states. A comprehensive survey of the presence, frequency, and duration of anxiety-related symptoms and questions to elicit open-ended responses was completed by caregivers of 456 individuals with FXS, ages 2-81 years (87 female, 369 male) and 24 female and 2 male FXS self-advocates ages 15-66 years. Caregivers reported classic behavioral indicators of anxiety, such as avoidance, irritability, motor agitation, and physiological symptoms, as well as behavioral features in FXS such as repetitive behavior, aggression, and self-injury. Self-advocate accounts largely paralleled caregiver data. Factor analyses yielded four factors: (1) increased irritability, aggression, and self-injury; (2) increased physical movement, nervous activity, and restlessness; (3) physical and physiological features of anxiety; and (4) internalizing and gastrointestinal symptoms. Caregivers are capable of observing and reporting behaviors that are valid indicators of anxious states that are usually reported in self-report standardized assessments. These results support the development of an anxiety measure for FXS that minimizes problems with rater inference.

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16. Muniandy M, Richdale AL, Lawson LP. Coping-resilience profiles and experiences of stress in autistic adults. Autism Res;2022 (Sep 16)

Emerging studies allude to high stress in autistic adults. Considering the detrimental impact of stress on health outcomes, examining individual resources which may influence the extent to which stress is experienced (e.g., coping and resilience) is vital. Using a person-focused approach, this study aimed to identify coping-resilience profiles, and examine their relations to general perceived stress and daily hassles in a sample of autistic adults (N = 86; aged 19-74 years). Cluster analysis identified four coping-resilience profiles (i.e., high cope/ low resilience, low cope/ high resilience, engage cope/ high resilience, and disengage cope/ low resilience). The high cope/ low resilience and disengage cope/ low resilience groups had significantly higher general perceived stress than the remaining groups. No significant group differences were noted in relation to daily hassles. Jointly addressing coping and resilience may be beneficial on the perceived stress experienced in autistic adults. The use of coping-resilience profiles may also allow for the personalization of stress management and support options in the autistic adult population. LAY SUMMARY: High stress is increasingly reported in autistic adults. As stress can impact individual health, examining how autistic individuals cope with stress, and their resilience when faced with stressful events, is important. In this study, we grouped 86 autistic individuals aged 19-74 years based on their coping and resilience patterns. We then compared these groups across their general sense of stress and stress over daily hassles. Four coping-resilience groups were identified, where those demonstrating a combination of high disengagement coping strategy use and low resilience reported the highest general sense of stress. These results suggest that a joint focus on coping strategies and resilience may be beneficial in understanding the stress experienced in autistic adults. Characterizing individuals based on their coping-resilience patterns can inform support services, personalize stress management options and identify individuals who may be at risk for experiencing high stress in the autistic adult population.

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17. Nelson BB, Ratushnyak D, Richards A, Sabo RT, Wolf ER, Krist AH. Using claims data to map unmet service needs for early childhood developmental disabilities in VA. Acad Pediatr;2022 (Sep 12)

BACKGROUND: Developmental disabilities (DD) affect over 10% of children 0-5 years of age, and early interventions are known to improve outcomes, yet barriers remain in connecting children to these services. OBJECTIVE: To identify gaps in services for young children with DD and established risk conditions in Virginia. METHODS: Data from the 2018 Virginia All Payers Claim Database and the American Community Survey were used to estimate the proportion of children with DD, and among those children, the proportion that received at least one intervention service. Logistic and binomial regression models were used to examine the socio-demographic associations with having developmental needs met, at the individual and zip code tabulation (ZCTA) level. RESULTS: Approximately 12% of children 0-5 years were found to have DD or established risk condition diagnosis, and only 54% of these received intervention services during that year. Individual-level analyses suggest that odds of having developmental needs met are higher among older children, boys, and children with public insurance. ZCTA-level analyses suggested higher odds of developmental needs being met in areas with higher levels of unemployment, while areas with high proportions of people with limited English proficiency and a high school education or less had lower odds of having needs met. CONCLUSIONS: Receiving early childhood developmental services in VA is associated with having public insurance and living in an area with higher levels of unemployment, higher education, and English-proficiency. Efforts are needed to improve delivery of services overall, specifically targeted to those areas with high levels of unmet need.

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18. Phichaya P, Wararat C, Somchai C, Oraporn D, Palisara T, Witchaya B, Jariya C. Folate Receptor Alpha Autoantibodies in Children with Autism Spectrum Disorder. Biomarkers;2022 (Sep 16):1-10.

Background: Recent research indicates that a number of children with autism generate folate receptor alpha autoantibodies (FRAA), which block transportation of folate across the blood-brain barrier, resulting in cerebral folate deficiency syndrome. Plasma FRAA detection permits precision diagnosis and potentially beneficial folinic acid treatment in FRAA-positive children with autism.Objectives: To investigate FRAA prevalence in Thai children with autism and evaluate the associations between FRAA-positive status, clinical symptom severity, and adaptive functioning.Methods: FRAA level was determined in serum samples from 89 children with autism between 2 and 15 years (69 males, 20 females, mean age 7.9 years, SD 3.8). The Childhood Autism Rating Scale-Second Edition (CARS-2) and the Vineland Adaptive Behavior Scales (VABS) were used to evaluate clinical symptom severity and adaptive functioning, respectively.Results: Of 89 children, 30 (33.7%) were FRAA-positive. FRAA-positive children with autism had significantly poorer mean VABS Adaptive Behavior Composite scores (p = 0.02) and Communication scores (p = 0.02) than FRAA-negative children with autism. There was no association between FRAA level and clinical symptom severity (CARS-2 score) (p = 0.09).Conclusions: The findings demonstrate the presence of FRAA in children with autism and that FRAA status is associated with poorer adaptive functioning.

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19. Polzer L, Freitag CM, Bast N. Pupillometric measures of altered stimulus-evoked locus coeruleus-norepinephrine activity explain attenuated social attention in preschoolers with autism spectrum disorder. Autism Res;2022 (Sep 16)

Attenuated social attention has been described as a reduced preference for social compared to geometric motion in preschoolers with autism spectrum disorder (ASD). The locus coeruleus-norpinephrine (LC-NE) system modulates sensory reactivity and is a promising underlying mechanism. LC-NE activity is indexed by a stimulus-evoked pupillary response (SEPR) and partially by a luminance-adaptation pupillary response (LAPR), which were both shown to be aberrant in ASD. We examined whether SEPR and LAPR explain an attenuated social motion preference. We applied pupillometry via video-based eye tracking in young children (18-65 months) with ASD (n = 57) and typically developing (TD) children (n = 39) during a preferential looking paradigm of competing social and geometric motion and a changing light condition paradigm. We found an attenuated social motion preference in the ASD compared to the TD group. This was accompanied by atypical pupillometry showing a smaller SEPR to social motion, a larger SEPR to geometric motion and a reduced LAPR to a dark screen. SEPR but not LAPR explained the group difference in social motion preference. An ASD diagnosis was statistically predicted by the social motion preference, while this effect was mediated by the inclusion of SEPR to geometric and social motion. Our findings suggest a decreased sensory reactivity to social and increased reactivity to non-social motion in ASD, which may concurrently contribute to an attenuated social attention. The LC-NE system is supported as a promising underlying mechanism of altered social attention in young children with ASD, while the specificity of findings remains to be addressed.

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20. Romer S, Dickerson A, Wu Q. Driving Performance of Experienced Young Adult Drivers with and without Autism Spectrum Disorder While Listening to Music on Two Scenarios: Hazards versus Wayfinding. Occup Ther Health Care;2022 (Sep 16):1-18.

This study explored the effect of music on the driving performance of experienced young adult drivers with and without autism spectrum disorder (ASD) using an interactive driving simulator with two types of scenarios. A 2 (Group: autism/neurotypical) × 2 (Music: music/no music) × 2 (Scenario: hazards/wayfinding) factorial design was used with the order of scenarios and music conditions counterbalanced. Participants were 34 neurotypical drivers and 5 drivers with ASD, all with at least 3 years of driving experience. Paired sample t-tests demonstrated no effect of music for any condition. Overall, the drivers with ASD had higher performance means than the neurotypical group with significant differences in the wayfinding scenario and the category for following regulations. Neurotypical drivers had better performance on the wayfinding scenario than the hazard scenario in maneuvers and being attentive to the environment. Although this study had a low number of drivers with ASD, it suggests drivers with ASD can perform better than neurotypical drivers, possibly because they follow road rule guidelines more consistently than neurotypical peers. In addition, this is the first study to examine wayfinding skills in teens/young adults with and without ASD.

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21. Schiavi S, Manduca A, Carbone E, Buzzelli V, Rava A, Feo A, Ascone F, Morena M, Campolongo P, Hill MN, Trezza V. Anandamide and 2-arachidonoylglycerol differentially modulate autistic-like traits in a genetic model of autism based on FMR1 deletion in rats. Neuropsychopharmacology;2022 (Sep 16)

Autism spectrum disorder (ASD) has a multifactorial etiology. Major efforts are underway to understand the neurobiological bases of ASD and to develop efficacious treatment strategies. Recently, the use of cannabinoid compounds in children with neurodevelopmental disorders including ASD has received increasing attention. Beyond anecdotal reports of efficacy, however, there is limited current evidence supporting such an intervention and the clinical studies currently available have intrinsic limitations that make the interpretation of the findings challenging. Furthermore, as the mechanisms underlying the beneficial effects of cannabinoid compounds in neurodevelopmental disorders are still largely unknown, the use of drugs targeting the endocannabinoid system remains controversial. Here, we studied the role of endocannabinoid neurotransmission in the autistic-like traits displayed by the recently validated Fmr1-(Δ)exon 8 rat model of autism. Fmr1-(Δ)exon 8 rats showed reduced anandamide levels in the hippocampus and increased 2-arachidonoylglycerol (2-AG) content in the amygdala. Systemic and intra-hippocampal potentiation of anandamide tone through administration of the anandamide hydrolysis inhibitor URB597 ameliorated the cognitive deficits displayed by Fmr1-(Δ)exon 8 rats along development, as assessed through the novel object and social discrimination tasks. Moreover, blockade of amygdalar 2-AG signaling through intra-amygdala administration of the CB1 receptor antagonist SR141716A prevented the altered sociability displayed by Fmr1-(Δ)exon 8 rats. These findings demonstrate that anandamide and 2-AG differentially modulate specific autistic-like traits in Fmr1-(Δ)exon 8 rats in a brain region-specific manner, suggesting that fine changes in endocannabinoid mechanisms contribute to ASD-related behavioral phenotypes.

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22. Schiltz HK, Fenning RM, Erath SA, Baker JK. Parasympathetic functioning and sleep problems in children with autism spectrum disorder. Autism Res;2022 (Sep 16)

Respiratory sinus arrhythmia (RSA), an index of parasympathetic nervous system activity, has been linked with sleep quality among children with neurotypical development. The current study extended examination of these processes to children with autism spectrum disorder (ASD), a group at considerable risk for sleep problems. Participants included 54 children with ASD (aged 6-10 years, 43% Hispanic). RSA data were collected via a wired MindWare system during a 3-min baseline and a 3-min challenge task. Parents reported on their children’s sleep problems and sleep duration using the Children’s Sleep Habits Questionnaire, Abbreviated. Although no significant correlations emerged between RSA indices and parent-reported child sleep, baseline RSA and RSA reactivity interacted in the prediction of sleep problems. For children with higher RSA reactivity, higher baseline RSA was associated with fewer sleep problems, but for children with lower RSA reactivity, baseline RSA was not predictive. No main effects or interactions of RSA predicted sleep duration. Findings suggest resilience against sleep problems for children with ASD presenting with higher baseline RSA and higher RSA reactivity. Implications of these results center upon directly targeting psychophysiology (i.e., parasympathetic nervous system regulation) as a possible mechanism to improve sleep in children with ASD, and developing personalized interventions based on physiological markers of risk and resilience. LAY SUMMARY: Children with autism spectrum disorder (ASD) often have difficulty sleeping, but contributing factors are not well understood. Findings suggest that certain psychophysiological tendencies thought to represent better overall arousal regulation and greater physiological reactivity to challenge may protect against sleep difficulties in children with ASD. Implications highlight the potential for targeting psychophysiological regulation as an avenue for reducing sleep problems.

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23. Zapparrata NM, Brooks PJ, Ober TM. Slower Processing Speed in Autism Spectrum Disorder: A Meta-analytic Investigation of Time-Based Tasks. J Autism Dev Disord;2022 (Sep 16)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting information processing across domains. The current meta-analysis investigated whether slower processing speed is associated with the ASD neurocognitive profile and whether findings hold across different time-based tasks and stimuli (social vs. nonsocial; linguistic vs. nonlinguistic). Mean RTs of ASD and age-matched neurotypical comparison groups (N = 893 ASD, 1063 neurotypical; mean age ASD group = 17 years) were compared across simple RT, choice RT, and interference control tasks (44 studies, 106 effects) using robust variance estimation meta-analysis. Simple RT tasks required participants to respond to individual stimuli, whereas choice RT tasks required forced-choice responses to two or more stimuli. Interference control tasks required a decision in the context of a distractor or priming stimulus; in an effort to minimize inhibitory demands, we extracted RTs only from baseline and congruent conditions of such tasks. All tasks required nonverbal (motor) responses. The overall effect-size estimate indicated significantly longer mean RTs in ASD groups (g = .35, 95% CI = .16; .54) than comparison groups. Task type moderated effects, with larger estimates drawn from simple RT tasks than interference control tasks. However, across all three task types, ASD groups exhibited significantly longer mean RTs than comparison groups. Stimulus type and age did not moderate effects. Generalized slowing may be a domain-general characteristic of ASD with potential consequences for social, language, and motor development. Assessing processing speed may inform development of interventions to support autistic individuals and their diverse cognitive profiles.

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24. Zhang S, Wang S, Liu R, Dong H, Zhang X, Tai X. A bibliometric analysis of research trends of artificial intelligence in the treatment of autistic spectrum disorders. Front Psychiatry;2022;13:967074.

OBJECTIVE: Autism Spectrum Disorder (ASD) is a serious neurodevelopmental disorder that has become the leading cause of disability in children. Artificial intelligence (AI) is a potential solution to this issue. This study objectively analyzes the global research situation of AI in the treatment of ASD from 1995 to 2022, aiming to explore the global research status and frontier trends in this field. METHODS: Web of Science (WoS) and PubMed databese were searched for Literature related to AI on ASD from 1995 to April 2022. CiteSpace, VOSviewer, Pajek and Scimago Graphica were used to analyze the collaboration between countries/institutions/authors, clusters and bursts of keywords, as well as analyses on references. RESULTS: A total of 448 literature were included, the total number of literature has shown an increasing trend. The most productive country and institution were the USA, and Vanderbilt University. The authors with the greatest contributions were Warren, Zachary, Sakar, Nilanjan and Swanson, Amy. the most prolific and cited journal is Journal of Autism and Developmental Disorders, the highest cited and co-cited articles were Dautenhahn (Socially intelligent robots: dimensions of human-robot interaction 2007) and Scassellati B (Robots for Use in Autism Research 2012). « Artificial Intelligence », « Brain Computer Interface » and « Humanoid Robot » were the hotspots and frontier trends of AI on ASD. CONCLUSION: The application of AI in the treatment of ASD has attracted the attention of researchers all over the world. The education, social function and joint attention of children with ASD are the most concerned issues for global researchers. Robots shows gratifying advantages in these issues and have become the most commonly used technology. Wearable devices and brain-computer interface (BCI) were emerging AI technologies in recent years, which is the direction of further exploration. Restoring social function in individuals with ASD is the ultimate aim and driving force of research in the future.

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25. Zhang Y, Yao S, Schmitt H, Becker B, Kendrick KM, Montag C. Molecular genetic associations between a prominent serotonin transporter gene polymorphism (5-HTTLPR/rs25531) and individual differences in tendencies toward autistic traits and generalized internet use disorder in China and Germany. Brain Behav;2022 (Sep 15):e2747.

BACKGROUND: The serotonin transporter polymorphism 5-HTTLPR is an extensively investigated genetic marker of autistic traits or autism spectrum disorder, and recently has also been studied in the realm of internet use disorder (IUD), yet the findings remain controversial. Therefore, the present study aimed to explore associations between 5-HTTLPR (also including SNP rs25531) and autistic traits/IUD tendencies and to assess whether the relationship between autistic traits and IUD tendencies varies by this genetic marker in participants from China and Germany. METHODS: A total of 540 Chinese and 563 German subjects were genotyped for 5-HTTLPR/rs25531 and completed the Adult Autism Spectrum Quotient questionnaire and the short version of the Internet Addiction Test. RESULTS: Carriers of the low expressing S’S’ genotype (S, L(G) ) showed significantly higher levels of autistic traits than the high expressing allele (e.g. L(A) ) carriers in both samples. There was no significant effect of 5-HTTLPR/rs25531 on IUD either in the Chinese or Germany samples, whereas positive correlations between autistic traits and IUD varied by 5-HTTLPR/rs25531 genotypes and also differed between Chinese and German samples. In the Chinese sample, positive correlations were mainly driven by S’S’ and S’L’ carriers, while they were mainly determined by S’L’ and L’L’ carriers in the German sample. Further analyses revealed that the associations between autistic traits and IUD tended in parts to be more strongly pronounced in the complete German sample compared to the complete Chinese sample, and also varied depending on 5-HTTLPR/rs25531 genotypes (in S’S’ carriers: China > Germany; in S’L’ and L’L’ carriers: China < Germany; both in terms of more positive associations). CONCLUSIONS: Our findings suggest carriers of low expressing alleles (S, L(G) ) are more likely to show higher autistic traits in both Chinese and German samples. Furthermore, the present work shows that both 5-HTTLPR/rs25531 and cultural differences might be of relevance to understand associations between autistic traits and IUD tendencies, but this needs to be further backed up.

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26. Zlatic SA, Duong D, Gadalla KKE, Murage B, Ping L, Shah R, Fink JJ, Khwaja O, Swanson LC, Sahin M, Rayaprolu S, Kumar P, Rangaraju S, Bird A, Tarquinio D, Carpenter R, Cobb S, Faundez V. Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome. iScience;2022 (Sep 16);25(9):104966.

MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome of Rett cerebrospinal fluid (CSF) to identify consensus Rett proteome and ontologies shared across three species. Rett CSF proteomes enriched proteins annotated to HDL lipoproteins, complement, mitochondria, citrate/pyruvate metabolism, synapse compartments, and the neurosecretory protein VGF. We used shared Rett ontologies to select analytes for orthogonal quantification and functional validation. VGF and ontologically selected CSF proteins had genotypic discriminatory capacity as determined by receiver operating characteristic analysis in Mecp2 (-/y) and Mecp2 (-/+) . Differentially expressed CSF proteins distinguished Rett from a related neurodevelopmental disorder, CDKL5 deficiency disorder. We propose that Mecp2 mutant CSF proteomes and ontologies inform putative mechanisms and biomarkers of disease. We suggest that Rett syndrome results from synapse and metabolism dysfunction.

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