1. Alusi G, Berry-Kravis E, Nelson D, Orefice LL, Booker SA. Emerging Therapeutic Strategies for Fragile X Syndrome: Q&A. ACS chemical neuroscience. 2022; 13(24): 3544-6.

Understanding how best to treat aspects of Fragile X syndrome has the potential to improve the quality of life of affected individuals. Such an effective therapy has, as yet, remained elusive. In this article, we ask those researching or affected by Fragile X syndrome their views on the current state of research and from where they feel the most likely therapy may emerge.

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2. Carter BC, Koch L. Swimming Lessons for Children With Autism: Parent and Teacher Experiences. OTJR : occupation, participation and health. 2022: 15394492221143048.

The occupation of swimming for children with autism is an unexplored field of research in the South African context. This study explores the experiences of swimming teachers and parents of children with autism in the context of swimming lessons. Semi-structured in-depth interviews were utilized with a qualitative, descriptive-phenomenological design. Data analysis utilized Colaizzis’s seven-step method. Parents first sought swimming lessons for their children as a survival skill. Although facing barriers to accessing this service, parents experienced swimming as a meaningful occupation with unexpected benefits. Swimming teachers also derived meaning from providing lessons, despite a lack of knowledge. They expressed a need for greater support and training. Swimming is a meaningful occupation for children with autism and their families, but swimming teachers in South Africa are not always equipped to provide this service. Occupational therapists could play a variety of roles in supporting participation for all stakeholders.

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3. Cissne MN, Bellesheim KR, Christ SE. Inhibitory Control in Male and Female Adolescents with Autism Spectrum Disorder (ASD). Developmental neuropsychology. 2022; 47(8): 369-83.

The present study examined potential sex- and age-related differences in inhibitory control in adolescents with and without ASD. A computerized flanker visual filtering task and a go/no-go task were used to assess the ability to resist interference from visual distractors (RIVD) and prepotent response inhibition, respectively. Overall, the ASD and non-ASD groups performed comparably on both tasks and no sex-related differences or interactions (group-by-sex) were apparent. Consistent with past research, however, we did observe a significant age-related improvement in RIVD performance among the ASD group (but not the non-ASD group).

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4. Cornell E, Blanchard A, Chihuri S, DiGuiseppi CG, Li G. Poisoning-related emergency department visits in children with autism spectrum disorder. Injury epidemiology. 2022; 9(Suppl 1): 41.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, and its prevalence has increased markedly in the past two decades. Research indicates that people with ASD are at increased risk for premature mortality from injuries. Often, children with ASD are prescribed multiple medications, increasing their risk for intentional and unintentional poisonings. We examined the epidemiologic patterns of emergency department (ED)-treated poisonings in children with ASD and the association of ED-treated poisonings with ASD according to common co-occurring conditions. METHODS: We analyzed data from the Nationwide Emergency Department Sample for 2016-2018 to estimate the frequencies of ED-treated poisonings among autistic children aged 1-20 years and adjusted odds ratios of ED-treated poisoning associated with ASD in the presence or absence of co-occurring attention-deficit hyperactivity disorder (ADHD) or intellectual disability (ID). The ICD-10-CM external cause-of-injury matrix was utilized to identify poisoning cases. RESULTS: During 2016-2018, there were an estimated 523,232 ED visits in children with ASD aged 1-20 years, including 12,152 (2.3%) visits for poisoning. Of ED-treated poisonings in children with ASD, 73.6% were related to pharmaceutical drugs, such as psychotropic medications and prescription opioids, 16.6% were intentional, 36.5% were unintentional, and 47.0% were undetermined. Among children with ASD, those aged 5-9 had the highest odds of poisoning-related ED visits compared to all other age-groups (adjusted OR = 3.41; 95% CI 3.15, 3.68). The odds of poisoning for children with ASD were 59.0% greater than for their peers (adjusted OR = 1.59; 95% CI 1.53, 1.66) and varied significantly with age and co-occurring ADHD or ID. CONCLUSIONS: Children with ASD are at a significantly increased risk of poisoning, particularly among those aged 5-9 years. Co-occurring ADHD or ID with ASD further increases the risk of poisoning. Interventions to reduce poisoning in children with ASD should prioritize the safety of prescription medications.

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5. Eapen V, Islam R, Azim SI, Masi A, Klein L, Karlov L. Factors Impacting Parental Quality of Life in Preschool Children on the Autism Spectrum. Journal of autism and developmental disorders. 2022.

This study examined connections between parental quality of life (QoL) and features of children (autism severity, cognitive ability, behavioral profile, and sociodemographic factors). Parents of 97 children attending an autism-specific preschool completed the Quality of Life in Autism, Vineland Adaptive Behavior Scales and Child Behavior Checklist. The Autism Diagnostic Observation Schedule and Mullen Scales of Early Learning were also administered. Reduced restrictive/repetitive behavior and higher socialization and play/leisure scores were associated with better parental QoL. Better behavioral regulation and attention also predicted better QoL, as did stronger communication and reduced internalising behaviours. Findings indicate that a child’s level of autism specific traits, adaptive functioning and behavioral profile has greater impact on parental QoL than cognitive level.

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6. Hull L, Heuvelman H, Golding J, Mandy W, Rai D. Gendered play behaviours in autistic and non-autistic children: A population-based cohort study. Autism : the international journal of research and practice. 2022: 13623613221139373.

Non-autistic children tend to show gendered patterns of play behaviours – boys are more likely to play with ‘masculine’ toys, and girls are more likely to play with ‘feminine’ toys. However, little is known about whether autistic children follow these patterns as well. We looked at the masculinity and femininity of autistic and non-autistic children’s play behaviours at multiple time points. Parents reported their children’s play behaviours at ages 30, 42 and 57 months, and children reported their own play behaviours at 8 years old. We found no difference between autistic and non-autistic girls, who both showed more feminine play behaviours as they got older. Autistic boys’ play behaviours were reported as less masculine than non-autistic boys at 42 and 57 months, and at 8 years old. We also found that non-autistic boys’ play tended to become more masculine as they got older, but this was not the case for autistic boys. Our findings suggest that differences in autistic and non-autistic boys’ play behaviours may develop at around 42 months old.

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7. Ismail E, Gad W, Hashem M. HEC-ASD: a hybrid ensemble-based classification model for predicting autism spectrum disorder disease genes. BMC bioinformatics. 2022; 23(1): 554.

PURPOSE: Autism spectrum disorder (ASD) is the most prevalent disease today. The causes of its infection may be attributed to genetic causes by 80% and environmental causes by 20%. In spite of this, the majority of the current research is concerned with environmental causes, and the least proportion with the genetic causes of the disease. Autism is a complex disease, which makes it difficult to identify the genes that cause the disease. METHODS: Hybrid ensemble-based classification (HEC-ASD) model for predicting ASD genes using gradient boosting machines is proposed. The proposed model utilizes gene ontology (GO) to construct a gene functional similarity matrix using hybrid gene similarity (HGS) method. HGS measures the semantic similarity between genes effectively. It combines the graph-based method, such as Wang method with the number of directed children’s nodes of gene term from GO. Moreover, an ensemble gradient boosting classifier is adapted to enhance the prediction of genes forming a robust classification model. RESULTS: The proposed model is evaluated using the Simons Foundation Autism Research Initiative (SFARI) gene database. The experimental results are promising as they improve the classification performance for predicting ASD genes. The results are compared with other approaches that used gene regulatory network (GRN), protein to protein interaction network (PPI), or GO. The HEC-ASD model reaches the highest prediction accuracy of 0.88% using ensemble learning classifiers. CONCLUSION: The proposed model demonstrates that ensemble learning technique using gradient boosting is effective in predicting autism spectrum disorder genes. Moreover, the HEC-ASD model utilized GO rather than using PPI network and GRN.

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8. Krieger B, Moser A, Morgenthaler T, Beurskens A, Piškur B. Parents’ Perceptions: Environments and the Contextual Strategies of Parents to Support the Participation of Children and Adolescents with Autism Spectrum Disorder-A Descriptive Population-Based Study from Switzerland. Journal of autism and developmental disorders. 2022: 1-23.

Environments have a modifying effect on the participation of children and adolescents with autism spectrum disorder (ASD) in all areas of life. This cross-sectional study investigated parental perspectives on supportive or hindering environments and the daily contextual strategies parents used to enhance their children’s participation. Qualitative and quantitative data gathered from 115 parents from German-speaking Switzerland using the participation and environment measure-child and youth (PEM-CY) were analyzed. Results revealed 45 environmental supports and barriers at home, at school, and in the community. Contextual strategies were identified in combination with people, activities, time, objects, and places. Parental perspectives on participation and their contextual strategies should be considered in environmental-based interventions to support the participation of children and adolescents with ASD.

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9. Lawson LP, Richdale AL, Denney K, Morris EMJ. ACT-i, an insomnia intervention for autistic adults: a pilot study. Behavioural and cognitive psychotherapy. 2022: 1-18.

BACKGROUND: Insomnia and disturbed sleep are more common in autistic adults compared with non-autistic adults, contributing to significant social, psychological and health burdens. However, sleep intervention research for autistic adults is lacking. AIMS: The aim of the study was to implement an acceptance and commitment therapy group insomnia intervention (ACT-i) tailored for autistic adults to examine its impact on insomnia and co-occurring mental health symptoms. METHOD: Eight individuals (6 male, 2 female) aged between 18 and 70 years, with a clinical diagnosis of autism spectrum disorder, and scores ranging from 9 to 26 on the Insomnia Severity Index (ISI) participated in the trial. Participants were assigned to one of two intervention groups (4 per group) within a multiple baseline over time design for group. Participants completed questionnaires pre-intervention, post-intervention, and at 2-month follow-up, actigraphy 1 week prior to intervention and 1 week post-intervention, and a daily sleep diary from baseline to 1 week post-intervention, and 1 week at follow-up. RESULTS: At a group level there were significant improvements in ISI (λ(2)=10.17, p=.006) and HADS-A (anxiety) (λ(2)=8.40, p=.015) scores across the three time points. Clinically reliable improvement occurred for ISI scores (n=5) and HADS-A scores (n=4) following intervention. Client satisfaction indicated that ACT-i was an acceptable intervention to the participants (median 4 out of 5). CONCLUSIONS: This pilot study with eight autistic adults indicates that ACT-i is both an efficacious and acceptable intervention for reducing self-reported insomnia and anxiety symptoms in autistic adults.

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10. Levison JH, Krane D, Donelan K, Aschbrenner K, Trieu HD, Chau C, Wilson A, Oreskovic NM, Irwin K, Iezzoni LI, Xie H, Samuels R, Silverman P, Batson J, Fathi A, Gamse S, Holland S, Wolfe J, Shellenberger K, Cella E, Bird B, Skotko BG, Bartels S. Best practices to reduce COVID-19 in group homes for individuals with serious mental illness and intellectual and developmental disabilities: Protocol for a hybrid type 1 effectiveness-implementation cluster randomized trial. Contemporary clinical trials. 2022: 107053.

BACKGROUND: People with serious mental illness (SMI) and intellectual disabilities and/or developmental disabilities (ID/DD) living in group homes (GHs) and residential staff are at higher risk for COVID-19 infection, hospitalization, and death compared with the general population. METHODS: We describe a hybrid type 1 effectiveness-implementation cluster randomized trial to assess evidence-based infection prevention practices to prevent COVID-19 for residents with SMI or ID/DD and the staff in GHs. The trial will use a cluster randomized design in 400 state-funded GHs in Massachusetts for adults with SMI or ID/DD to compare effectiveness and implementation of « Tailored Best Practices » (TBP) consisting of evidence-based COVID-19 infection prevention practices adapted for residents with SMI and ID/DD and GH staff; to « General Best Practices » (GBP), consisting of required standard of care reflecting state and federal standard general guidelines for COVID-19 prevention in GHs. External (i.e., community-based research staff) and internal (i.e., GH staff leadership) personnel will facilitate implementation of TBP. The primary effectiveness outcome is incident SARS-CoV-2 infection and secondary effectiveness outcomes include COVID-19-related hospitalizations and mortality in GHs. The primary implementation outcomes are fidelity to TBP and rates of COVID-19 vaccination. Secondary implementation outcomes are adoption, adaptation, reach, and maintenance. Outcomes will be assessed at baseline, 3-, 6-, 9-, 12-, and 15-months post-randomization. CONCLUSIONS: This study will advance knowledge on comparative effectiveness and implementation of two different strategies to prevent COVID-19-related infection, morbidity, and mortality and promote fidelity and adoption of these interventions in high-risk GHs for residents with SMI or ID/DD and staff. CLINICAL TRIAL REGISTRATION NUMBER: NCT04726371.

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11. Rogers MA, Elison JT, Blain SD, DeYoung CG. A cybernetic theory of autism: Autism as a consequence of low trait Plasticity. Journal of personality. 2022.

According to Cybernetic Big Five Theory (CB5T), personality traits reflect variation in the parameters of evolved cybernetic mechanisms, and extreme manifestations of these traits correspond to a risk for psychopathology because they threaten the organism’s ability to pursue its goals effectively. Our theory of autism as a consequence of low Plasticity extends CB5T to provide a cybernetic account of the origin of autistic traits. The theory argues that, because all psychological competencies are initially developed through exploration, typical development requires sensitivity to the incentive reward value of the unknown (i.e., the unpredicted). According to CB5T, motivation to explore the unknown is the core function underlying the metatrait Plasticity, the shared variance of Extraversion and Openness/Intellect. This theory makes predictions regarding the downstream developmental consequences of early low Plasticity, and each prediction maps well onto autistic symptomatology. This approach may help to explain the heterogeneity of autism, as there are many ways that rigidity can reinforce itself to create a developmental trap influencing the development of competencies. We end by presenting preliminary meta-analytic and new data showing a strong negative relation between Plasticity and autistic symptomatology.

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12. Saraf TS, McGlynn RP, Bhatavdekar OM, Booth RG, Canal CE. FPT, a 2-Aminotetralin, Is a Potent Serotonin 5-HT(1A), 5-HT(1B), and 5-HT(1D) Receptor Agonist That Modulates Cortical Electroencephalogram Activity in Adult Fmr1 Knockout Mice. ACS chemical neuroscience. 2022; 13(24): 3629-40.

There are no approved medicines for fragile X syndrome (FXS), a monogenic, neurodevelopmental disorder. Electroencephalogram (EEG) studies show alterations in resting-state cortical EEG spectra, such as increased gamma-band power, in patients with FXS that are also observed in Fmr1 knockout models of FXS, offering putative biomarkers for drug discovery. Genes encoding serotonin receptors (5-HTRs), including 5-HT(1A), 5-HT(1B), and 5-HT(1D)Rs, are differentially expressed in FXS, providing a rationale for investigating them as pharmacotherapeutic targets. Previously we reported pharmacological activity and preclinical neurotherapeutic effects in Fmr1 knockout mice of an orally active 2-aminotetralin, (S)-5-(2′-fluorophenyl)-N,N-dimethyl-1,2,3,4-tetrahydronaphthalen-2-amine (FPT). FPT is a potent (low nM), high-efficacy partial agonist at 5-HT(1A)Rs and a potent, low-efficacy partial agonist at 5-HT(7)Rs. Here we report new observations that FPT also has potent and efficacious agonist activity at human 5-HT(1B) and 5-HT(1D)Rs. FPT’s K(i) values at 5-HT(1B) and 5-HT(1D)Rs were <5 nM, but it had nil activity (>10 μM K(i)) at 5-HT(1F)Rs. We tested the effects of FPT (5.6 mg/kg, subcutaneous) on EEG recorded above the somatosensory and auditory cortices in freely moving, adult Fmr1 knockout and control mice. Consistent with previous reports, we observed significantly increased relative gamma power in untreated or vehicle-treated male and female Fmr1 knockout mice from recordings above the left somatosensory cortex (LSSC). In addition, we observed sex effects on EEG power. FPT did not eliminate the genotype difference in relative gamma power from the LSSC. FPT, however, robustly decreased relative alpha power in the LSSC and auditory cortex, with more pronounced effects in Fmr1 KO mice. Similarly, FPT decreased relative alpha power in the right SSC but only in Fmr1 knockout mice. FPT also increased relative delta power, with more pronounced effects in Fmr1 KO mice and caused small but significant increases in relative beta power. Distinct impacts of FPT on cortical EEG were like effects caused by certain FDA-approved psychotropic medications (including baclofen, allopregnanolone, and clozapine). These results advance the understanding of FPT’s pharmacological and neurophysiological effects.

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13. Shen L, Zhang J, Fan S, Ping L, Yu H, Xu F, Cheng Y, Xu X, Yang C, Zhou C. Cortical thickness abnormalities in autism spectrum disorder. European child & adolescent psychiatry. 2022.

The pathological mechanism of autism spectrum disorder (ASD) remains unclear. Nowadays, surface-based morphometry (SBM) based on structural magnetic resonance imaging (sMRI) techniques have reported cortical thickness (CT) variations in ASD. However, the findings were inconsistent and heterogeneous. This current meta-analysis conducted a whole-brain vertex-wise coordinate-based meta-analysis (CBMA) on CT studies to explore the most noticeable and robust CT changes in ASD individuals by applying the seed-based d mapping (SDM) program. A total of 26 investigations comprised 27 datasets were included, containing 1,635 subjects with ASD and 1470 HC, along with 94 coordinates. Individuals with ASD exhibited significantly altered CT in several regions compared to HC, including four clusters with thicker CT in the right superior temporal gyrus (STG.R), the left middle temporal gyrus (MTG.L), the left anterior cingulate/paracingulate gyri, the right superior frontal gyrus (SFG.R, medial orbital parts), as well as three clusters with cortical thinning including the left parahippocampal gyrus (PHG.L), the right precentral gyrus (PCG.R) and the left middle frontal gyrus (MFG.L). Adults with ASD only demonstrated CT thinning in the right parahippocampal gyrus (PHG.R), revealed by subgroup meta-analyses. Meta-regression analyses found that CT in STG.R was positively correlated with age. Meanwhile, CT in MFG.L and PHG.L had negative correlations with the age of ASD individuals. These results suggested a complicated and atypical cortical development trajectory in ASD, and would provide a deeper understanding of the neural mechanism underlying the cortical morphology in ASD.

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14. Slavny-Cross R, Allison C, Griffiths S, Baron-Cohen S. Are autistic people disadvantaged by the criminal justice system? A case comparison. Autism : the international journal of research and practice. 2022: 13623613221140284.

Most autistic people will never experience being arrested or charged with a crime, however for those who do tend to be less satisfied with the way they were treated. The purpose of this study was to find out if autistic people are being disadvantaged by the criminal justice system if they are arrested. Previous research has shown that autistic people may have difficulties communicating with the police. This study builds on this knowledge by uncovering why autistic people may not feel able to communicate with the police and whether the police made any adjustments to help them. This study also measures the impact of being involved with the criminal justice system on autistic people’s mental health, such as stress, meltdowns and shutdowns. The results show that autistic people were not always given the support they felt they needed. For example, not all autistic people had an appropriate adult with them at the police station who could help to make sure they understood what was happening around them. Autistic people were also more likely to feel less able to cope with the stress and more likely to suffer meltdowns and shutdowns because of their involvement with the criminal justice system. We hope this study will help police officers and lawyers to better support autistic people if they become involved with the criminal justice system.

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15. Unnisa A, Greig NH, Kamal MA. Modeling the Interplay Between Neuron-Glia Cell Dysfunction and Glial Therapy in Autism Spectrum Disorder. Current neuropharmacology. 2022.

Autism spectrum disorder (ASD) is a complicated, interpersonally defined, static condition of the underdeveloped brain. Although the aetiology of autism remains unclear, disturbance of neuron-glia interactions has lately been proposed as a significant event in the pathophysiology of ASD. In recent years, the contribution of glial cells to autism has been overlooked. In addition to neurons, glial cells play an essential role in mental activities, and a new strategy that emphasises neuron-glia interactions should be applied. Disturbance of neuron-glia connections has lately been proposed as a significant event in the pathophysiology of ASD because aberrant neuronal network formation and dysfunctional neurotransmission are fundamental to the pathology of the condition. In ASD, neuron and glial cell number changes cause brain circuits to malfunction and impact behaviour. A study revealed that reactive glial cells result in the loss of synaptic functioning and induce autism under inflammatory conditions. Recent discoveries also suggest that dysfunction or changes in the ability of microglia to carry out physiological and defensive functions (such as failure in synaptic elimination or aberrant microglial activation) may be crucial for developing brain diseases, especially autism. The cerebellum, white matter, and cortical regions of autistic patients showed significant microglial activation. Reactive glial cells result in the loss of synaptic functioning and induce autism under inflammatory conditions. Replacement of defective glial cells (Cell-replacement treatment), glial progenitor cell-based therapy, and medication therapy (inhibition of microglia activation) are all utilised to treat glial dysfunction. This review discusses the role of glial cells in ASD and the various potential approaches to treating glial cell dysfunction.

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16. Xiong H, Liu X, Yang F, Yang T, Chen J, Chen J, Li T. Developmental Language Differences in Children with Autism Spectrum Disorders and Possible Sex Difference. Journal of autism and developmental disorders. 2022.

Developmental difference is a common characteristic of autism spectrum disorder (ASD) with unclear sex differences. The current study included 610 children with ASD, aged between 2 and 7 years, with completed language profiles. We used a nonparametric item response theory model called Mokken scale analysis to examine the order of acquisition of developmental language milestones in children with ASD. Our results demonstrated the developmental language differences in the expressive and receptive language dimensions in children with ASD compared with typical developmental sequences. Furthermore, The acquisition of gestures and pragmatics was more impaired in the female subgroup than in the male subgroup. The identified developmental language sequence could help provide a more comprehensive ASD developmental profile.

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