1. Autism 101 Commentaries. Autism Res;2022 (Sep 6)

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2. Arthur T, Brosnan M, Harris D, Buckingham G, Wilson M, Williams G, Vine S. Investigating how Explicit Contextual Cues Affect Predictive Sensorimotor Control in Autistic Adults. J Autism Dev Disord;2022 (Sep 5)

Research suggests that sensorimotor difficulties in autism could be reduced by providing individuals with explicit contextual information. To test this, we examined autistic visuomotor control during a virtual racquetball task, in which participants hit normal and unexpectedly-bouncy balls using a handheld controller. The probability of facing each type of ball was varied unpredictably over time. However, during cued trials, participants received explicit information about the likelihood of facing each uncertain outcome. When compared to neurotypical controls, autistic individuals displayed poorer task performance, atypical gaze profiles, and more restricted swing kinematics. These visuomotor patterns were not significantly affected by contextual cues, indicating that autistic people exhibit underlying differences in how prior information and environmental uncertainty are dynamically modulated during movement tasks.

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3. Brosnan M, Ashwin C. Differences in Art Appreciation in Autism: A Measure of Reduced Intuitive Processing. J Autism Dev Disord;2022 (Sep 5)

Art appreciation reflects an initial emotional and intuitive response to artwork evaluation, although this intuitive evaluation can be attenuated by subsequent deliberation. The Dual Process Theory of Autism proposes that individuals with Autism Spectrum Disorder (ASD) have a greater propensity to deliberate and reduced intuition compared to matched controls. Evaluations of high- and low-quality artworks were undertaken by 107 individuals with a diagnosis of ASD and 145 controls. Controls consistently evaluated high-quality artworks to be much better quality than the low-quality artworks, reflecting intuitive processing. The ASD sample showed a reduced difference in evaluations between high- versus low-quality artwork, which reflects reduced intuitive processing and greater deliberative processing and is consistent with predictions by the Dual Process Theory of Autism.

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4. Bylemans T, Heleven E, Baetens K, Deroost N, Baeken C, Van Overwalle F. A narrative sequencing and mentalizing training for adults with autism: A pilot study. Front Behav Neurosci;2022;16:941272.

Adults diagnosed with autism experience difficulties with understanding the mental states of others, or themselves (mentalizing) and with adequately sequencing personal stories (narrative coherence). Given that the posterior cerebellum is implicated in both skills, as well as in the etiology of autism, we developed a narrative sequencing and mentalizing training for autistic adults. Participants with an official autism diagnosis were randomly assigned to a Training group (n = 17) or a waiting-list Control group (n = 15). The Training group took part in six weekly sessions in groups of three participants lasting each about 60 min. During training, participants had to (re)tell stories from the perspective of the original storyteller and answer questions that required mentalizing. We found significant improvements in mentalizing about others’ beliefs and in narrative coherence for the Training group compared to the Control group immediately after the training compared to before the training. Almost all participants from the Training group expressed beneficial effects of the training on their mood and half of the participants reported positive effects on their self-confidence in social situations. All participants recommended the current training to others. Results are discussed in light of cerebellar theories on sequencing of social actions during mentalizing. Further improvements to the program are suggested. Our results highlight the potential clinical utility of adopting a neuroscience-informed approach to developing novel therapeutic interventions for autistic populations.

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5. Carolyn Graff J, Fisher M, Hill L, Reaves RP, Nelson SR, Betz CL. Closing the nursing leadership gap: Leveraging partnerships with people with intellectual disabilities and developmental disabilities. Nurs Outlook;2022 (Sep 6)

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6. Carter SA, Lin JC, Chow T, Yu X, Rahman MM, Martinez MP, Feldman K, Eckel SP, Chen JC, Chen Z, Levitt P, Lurmann FW, McConnell R, Xiang AH. Maternal obesity, diabetes, preeclampsia, and asthma during pregnancy and likelihood of autism spectrum disorder with gastrointestinal disturbances in offspring. Autism;2022 (Sep 4):13623613221118430.

Autism spectrum disorder is heterogeneous and often accompanied by co-occurring conditions. Previous studies have shown that maternal health conditions during pregnancy including obesity, diabetes, preeclampsia, and asthma were associated with increased likelihood of autism. However, little has been done examining the likelihood associated with autism with co-occurring conditions. This study assessed these maternal health conditions in relationship to autism and gastrointestinal disturbances, a common co-occurring condition in children diagnosed with autism. Data included 308,536 mother-child pairs from one integrated health care system with comprehensive electronic medical records. Among the study cohort, 5,131 (1.7%) children had a diagnosis of autism by age 5. Gastrointestinal disturbances were present in 35.4% of children diagnosed with autism and 25.1% of children without autism diagnoses. Our results showed that each of the four maternal health conditions during pregnancy was associated with increased likelihood of gastrointestinal disturbances, autism without gastrointestinal disturbances, and autism with gastrointestinal disturbances. For all four maternal health conditions, the association was greatest for likelihood of autism with gastrointestinal disturbances. Given that children diagnosed with autism are more likely to have gastrointestinal disturbances and over 80% of gastrointestinal disturbances in this cohort were diagnosed prior to autism diagnosis, this study suggests that there may be common biological pathways between autism and gastrointestinal disturbances impacted by these maternal exposures. Future studies are warranted to assess associations between different exposures and autism with other co-occurring conditions to increase our understanding of autism heterogeneity.

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7. Cooper K, Russell AJ, Lei J, Smith LG. The impact of a positive autism identity and autistic community solidarity on social anxiety and mental health in autistic young people. Autism;2022 (Sep 4):13623613221118351.

Autism is a diagnosis given to individuals by professionals but is also increasingly seen as an identity which an individual can choose for themselves. We wanted to explore how having autism as an identity affects autistic young people. There is evidence that autistic adults have better psychological well-being when they feel more solidarity with other autistic people and feel positively about being autistic. We know that autistic teenagers often feel anxious in social situations. Having a positive autism identity might help alleviate social anxiety associated with being autistic. We wanted to find out if autistic young people who felt more solidarity with other autistic people, and had more positive feelings about autism, had better psychological well-being and less social anxiety. We asked 121 autistic people aged 15-22 years to complete some questionnaires. These questionnaires asked about the young person’s autism traits, social anxiety, and psychological well-being. The questionnaires also asked how satisfied they felt to be autistic (satisfaction) and how much solidarity they felt with the autism community (solidarity). We found that autistic young people who had higher autism satisfaction had better psychological well-being and lower social anxiety. Young people who felt more solidarity with other autistic people had higher psychological well-being. There was no association between autism solidarity and social anxiety. We conclude that is important to support autistic young people to develop positive feelings about autism and to feel solidarity with other autistic people.

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8. Cornell M. A fine balance: Best interests in the context of invasive treatment and autism: Manchester University NHS Foundation Trust v William Verden [2022] EWCOP 9. Med Law Rev;2022 (Sep 6);30(3):534-543.

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9. Doostparast Torshizi A, Wang K. Tissue-wide cell-specific proteogenomic modeling reveals novel candidate risk genes in autism spectrum disorders. NPJ Syst Biol Appl;2022 (Sep 6);8(1):31.

Autism spectrum disorders (ASD) are a set of complex neurodevelopmental diseases characterized with repetitive behavioral patterns and communication disabilities. Using a systems biology method called MAPSD (Markov Affinity-based Proteogenomic Signal Diffusion) for joint modeling of proteome dynamics and a wide array of omics datasets, we identified a list of candidate ASD risk genes. Leveraging the collected biological signals as well as a large-scale protein-protein interaction network adjusted based on single cell resolution proteome properties in four brain regions, we observed an agreement between the known and the newly identified candidate genes that are spatially enriched in neuronal cells within cerebral cortex at the protein level. Moreover, we created a detailed subcellular localization enrichment map of the known and the identified genes across 32 micro-domains and showed that neuronal cells and neuropils share the largest fraction of signal enrichment in cerebral cortex. Notably, we showed that the identified genes are among the transcriptional biomarkers of inhibitory and excitatory neurons in human frontal cortex. Intersecting the identified genes with a single cell RNA-seq data on ASD brains further evidenced that 20 candidate genes, including GRIK1, EMX2, STXBP6, and KCNJ3 are disrupted in distinct cell-types. Moreover, we showed that ASD risk genes are predominantly distributed in certain human interactome modules, and that the identified genes may act as the regulator for some of the known ASD loci. In summary, our study demonstrated how tissue-wide cell-specific proteogenomic modeling can reveal candidate genes for brain disorders that can be supported by convergent lines of evidence.

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10. Drapalik KN, Grodberg D, Ventola P. Feasibility and Acceptability of Delivering Pivotal Response Treatment for Autism Spectrum Disorder via Telehealth: Pilot Pre-Post Study. JMIR Pediatr Parent;2022 (Sep 6);5(3):e32520.

BACKGROUND: Pivotal response treatment (PRT), an evidence-based and parent-delivered intervention, is designed to improve social communication in autistic individuals. OBJECTIVE: The aim of this study was to assess the feasibility, acceptability, and clinical effects of an online model of PRT delivered via MindNest Health, a telehealth platform that aims to provide self-directed and engaging online modules, real-time coaching and feedback, and accessible stepped-care to large populations of parents seeking resources for their autistic children. METHODS: Male and female autistic children, aged 2-7 years with single-word to phrase-level speech, and their parents were eligible to participate in the study. Families were randomized to the online parent training condition or control condition. The online component of the intervention consisted of eight 20-minute online courses of content describing parent training principles in PRT. Four 1-hour videoconferences were held after course 1, course 3, course 5, and course 8. Parents were given 1-2 weeks to complete each course. Parents completed the Client Credibility Questionnaire (CCQ) at week 2 and at the study endpoint, as well as the Behavioral Intervention Rating Scale (BIRS) at the study endpoint to assess parental expectancies, and treatment acceptability and effectiveness. RESULTS: Nine of 14 participants completed the study curriculum in the online parent training condition, and 6 of 12 participants completed the control condition. Thus, a total of 58% (15/26) participants across both groups completed the study curriculum by study closure. Within the online parent training condition, there was a significant increase in mean CCQ total scores, from 25.38 (SD 3.25) at baseline to 27.5 (SD 3.74) at study endpoint (P=.04); mean CCQ confidence scores, from 6.0 (SD 1.07) at baseline to 6.75 (SD 0.89) at study endpoint (P=.02); and mean CCQ other improvement scores, from 5.25 (SD 0.89) at baseline to 6.25 (SD 1.28) at study endpoint (P=.009). Within the control condition, a modest increase in mean CCQ scores was noted (Confidence, difference=+0.25; Recommend, difference=+0.25; Total Score, difference=+0.50), but the differences were not statistically significant (Confidence P=.38, Recommend P=.36, Total Score P=.43). Among the 11 parents who completed the BIRS at the study endpoint, 82% (n=9) endorsed that they slightly agree or agree with over 93% of the Acceptability factor items on the BIRS. CONCLUSIONS: The feasibility of this online treatment is endorsed by the high rate of online module completion and attendance to videoconferences within the online parent training group. Acceptability of treatment is supported by strong ratings on the CCQ and significant improvements in scores, as well as strong ratings on the BIRS. This study’s small sample size limits the conclusions that can be drawn; however, the PRT MindNest Health platform holds promise to support parents of autistic children who are unable to access traditional, in-person parent-mediated interventions for their child.

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11. Fox L, Asbury K, Code A, Toseeb U. Parents’ perceptions of the impact of COVID-19 and school transition on autistic children’s friendships. Autism;2022 (Sep 6):13623613221123734.

Research shows that moving schools can be a challenging time for autistic children and young people. One factor that has been found to support successful transition is friendships. However, there is little research exploring how transition between schools affects autistic children’s friendships, and even less on how children’s relationships during transition have been impacted by COVID-19. Fourteen parents of autistic children and young people were interviewed about their child’s move to a new school and the impact they felt this had on their friendships. Parents described how moving with existing friends helped some children to find the transition less challenging. Others had differing experiences, with their children’s friendships playing a much smaller role in the move. Differences were also seen with regard to the impact of COVID-19, with some parents speaking of how hard being away from friends was for their child, while others found the social restrictions a welcome break from interacting with peers. The study highlights how different the experiences of autistic individuals, and their parents, can be and the importance of a child-centred approach to transition support.

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12. Freeman M, Crawford A, Gough L, Rianto M, Yakubov R, Rampton G, FitzGerald E, Fang H, Di Rezze B. Examining the development and utilization of infection control policies to safely support adults with intellectual and developmental disabilities in congregate living settings during COVID-19. Can J Public Health;2022 (Sep 6):1-12.

OBJECTIVE: Congregate living settings supporting individuals with intellectual and developmental disabilities (IDD) have experienced unprecedented challenges during the COVID-19 pandemic. This study aimed to explore the development and utilization of infection control policies in congregate living settings supporting individuals with IDD during the COVID-19 pandemic. METHODS: This qualitative study employed an interpretive description using semi-structured interviews involving administrative personnel from agencies assisting those with IDD residing in Developmental Services congregate living settings in Ontario, Canada. RESULTS: Twenty-two semi-structured interviews were conducted with individuals from 22 agencies. Thematic analysis revealed three categories: Development of infection control policies, Implementation of infection control policies, and Impact of infection control policies. Each category yielded subsequent themes. Themes from the Development of infection control policies category included New responsibilities and interpreting the grey areas, and Feeling disconnected and forgotten. Four themes within the Implementation of infection control policies category included, « It’s their home » (i.e. difficulty balancing public health guidance and organizational values), Finding equipment and resources (e.g. supports and barriers), Information overload (i.e. challenges agencies faced when implementing policies), and Emerging vaccination (i.e. perspective of agencies as they navigate vaccination for clients and staff). The category of Impact of infection control policies had one theme-Fatigue and burnout, capturing the impact of policies on stakeholders in congregate living settings. CONCLUSION: Agencies experienced difficulties developing and implementing infection control policies, impacting the clients they serve and their families and staff. Public health guidance should be tailored to each congregate living setting rather than generally applied.

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13. Galán-Vidal J, Socuéllamos PG, Baena-Nuevo M, Contreras L, González T, Pérez-Poyato MS, Valenzuela C, González-Lamuño D, Gandarillas A. A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism. Orphanet J Rare Dis;2022 (Sep 6);17(1):345.

BACKGROUND: Novel developmental mutations associated with disease are a continuous challenge in medicine. Clinical consequences caused by these mutations include neuron and cognitive alterations that can lead to epilepsy or autism spectrum disorders. Often, it is difficult to identify the physiological defects and the appropriate treatments. RESULTS: We have isolated and cultured primary cells from the skin of a patient with combined epilepsy and autism syndrome. A mutation in the potassium channel protein Kv10.2 was identified. We have characterised the alteration of the mutant channel and found that it causes loss of function (LOF). Primary cells from the skin displayed a very striking growth defect and increased differentiation. In vitro treatment with various carbonic anhydrase inhibitors with various degrees of specificity for potassium channels, (Brinzolamide, Acetazolamide, Retigabine) restored the activation capacity of the mutated channel. Interestingly, the drugs also recovered in vitro the expansion capacity of the mutated skin cells. Furthermore, treatment with Acetazolamide clearly improved the patient regarding epilepsy and cognitive skills. When the treatment was temporarily halted the syndrome worsened again. CONCLUSIONS: By in vitro studying primary cells from the patient and the activation capacity of the mutated protein, we could first, find a readout for the cellular defects and second, test pharmaceutical treatments that proved to be beneficial. The results show the involvement of a novel LOF mutation of a Potassium channel in autism syndrome with epilepsy and the great potential of in vitro cultures of primary cells in personalised medicine of rare diseases.

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14. Gardella B, Dominoni M, Scatigno AL, Cesari S, Fiandrino G, Orcesi S, Spinillo A. What is known about neuroplacentology in fetal growth restriction and in preterm infants: A narrative review of literature. Front Endocrinol (Lausanne);2022;13:936171.

The placenta plays a fundamental role during pregnancy for fetal growth and development. A suboptimal placental function may result in severe consequences during the infant’s first years of life. In recent years, a new field known as neuroplacentology has emerged and it focuses on the role of the placenta in fetal and neonatal brain development. Because of the limited data, our aim was to provide a narrative review of the most recent knowledge about the relation between placental lesions and fetal and newborn neurological development. Papers published online from 2000 until February 2022 were taken into consideration and particular attention was given to articles in which placental lesions were related to neonatal morbidity and short-term and long-term neurological outcome. Most research regarding the role of placental lesions in neurodevelopment has been conducted on fetal growth restriction and preterm infants. Principal neurological outcomes investigated were periventricular leukomalacia, intraventricular hemorrhages, neonatal encephalopathy and autism spectrum disorder. No consequences in motor development were found. All the considered studies agree about the crucial role played by placenta in fetal and neonatal neurological development and outcome. However, the causal mechanisms remain largely unknown. Knowledge on the pathophysiological mechanisms and on placenta-related risks for neurological problems may provide clues for early interventions aiming to improve neurological outcomes, especially among pediatricians and child psychiatrists.

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15. Girolamo T, Rice ML. Language Impairment in Autistic Adolescents and Young Adults. J Speech Lang Hear Res;2022 (Sep 12);65(9):3518-3530.

PURPOSE: Little is known about the specific nature of language abilities of autistic adolescents and young adults with language impairment (LI), limiting our knowledge of developmental trajectories and ability to develop efficacious speech/language supports. An important first step is establishing proof of concept of identification of LI in this population, with considerations for feasibility of assessment. This research note describes such a study in a sample of autistic adolescents and young adults with LI. METHOD: Thirteen autistic adolescents and young adults completed an assessment protocol of age-referenced language and nonverbal cognitive assessments. Assessment took place once per year for 3 years; the first two assessments were conducted in person, and the final was conducted online due to the pandemic. All assessments included measures of overall language and morphosyntax; the third added measures of expressive and receptive vocabulary, verbal working memory, and nonverbal intelligence (NVIQ). Analysis included descriptives and comparison of individual performance with epidemiological criteria for LI. RESULTS: All participants qualified for LI, with overall receptive and expressive language scores persistently in the LI range. Other outcomes were variable. Some participants had nonword repetition and vocabulary abilities within age expectations, and some consistently showed adultlike morphosyntactic performance. NVIQ was variable, with no consistent associations with language outcomes. DISCUSSION: Our findings support the use of the current protocol, as implemented in person or online, to identify LI in autistic adolescents and young adults. This exploratory work is limited by a small sample and missing data. The findings contribute to our understanding of linguistic strengths and variability in the language skills of autistic young adults with LI.

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16. Grivas G, Frye RE, Hahn J. Maternal risk factors vary between subpopulations of children with autism spectrum disorder. Autism Res;2022 (Sep 6)

Previous work identified three subgroups of children with ASD based upon co-occurring conditions (COCs) diagnosed during the first 5 years of life. This work examines prenatal risk factors, given by maternal medical claims, for each of the three subgroups: children with a High-Prevalence of COCs, children with mainly developmental delay and seizures (DD/Seizure COCs), and children with a Low-Prevalence of COCs. While some risk factors are shared by all three subgroups, the majority of the factors identified for each subgroup were unique; infections, anti-inflammatory and other complex medications were associated with the High-Prevalence COCs group; immune deregulatory conditions such as asthma and joint disorders were associated with the DD/Seizure COCs group; and overall pregnancy complications were associated with the Low-Prevalence COCs group. Thus, we have found that the previously identified subgroups of children with ASD have distinct associated prenatal risk factors. As such, this work supports subgrouping children with ASD based upon COCs, which may provide a framework for elucidating some of the heterogeneity associated with ASD. LAY SUMMARY: Children diagnosed with autism spectrum disorder (ASD) are commonly diagnosed with co-occurring conditions (COCs) as well. Medical events that occur during a woman’s pregnancy can affect the outcome of ASD but it is unclear how these events affect COCs. Medical events during pregnancy, identified using insurance claims, were found to vary for the three subgroups of children diagnosed with ASD and grouped by COCs. This supports subgrouping children with ASD based upon their COCs.

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17. Guo BQ, Li HB, Zhai DS, Yang LQ. Prevalence of autism spectrum disorder diagnosis by birth weight, gestational age, and size for gestational age: a systematic review, meta-analysis, and meta-regression. Eur Child Adolesc Psychiatry;2022 (Sep 6)

We aimed to comprehensively pool the prevalence of autism spectrum disorder (ASD) diagnosis by birth weight, gestational age, and size for gestational age. PubMed, EMBASE, Web of Science, Ovid PsycINFO, and Cochrane Library were searched up to December 22, 2021. We pooled data using the random-effects model and quantified heterogeneity using the I(2) statistic. Of 66 643 records initially identified, 75 studies were included in the meta-analysis. The pooled prevalence estimates of ASD diagnosis are as follows: very-low-birth weight, 3.1% (912 ASD/66,445 individuals); low-birth weight, 2.3% (5672 ASD/593,927 individuals); normal-birth weight, 0.5% (17,361 ASD/2,378,933 individuals); high-birth weight, 0.6% (4505 ASD/430,699 individuals); very preterm, 2.8% (2113 ASD/128,513 individuals); preterm, 2.1% (19 672 ASD/1 725 244 individuals); term, 0.6% (113,261 ASD/15,297,259 individuals); postterm, 0.6% (9419 ASD/1,138,215 individuals); small-for-gestational-age, 1.9% (6314 ASD/796,550 individuals); appropriate-for-gestational-age, 0.7% (21,026 ASD/5,936,704 individuals); and large-for-gestational-age, 0.6% (2607 ASD/635,666 individuals). Compared with the reference prevalence (those in normal-birth weight, term, and appropriate-for-gestational-age individuals), the prevalence estimates of ASD diagnosis in very-low-birth weight, low-birth weight, very preterm, preterm, and small-for-gestational-age individuals increased significantly, while those in high-birth weight, postterm, and large-for-gestational-age individuals did not change significantly. There were geographical differences in the prevalence estimates. This meta-analysis provided reliable estimates of the prevalence of ASD diagnosis by birth weight, gestational age, and size for gestational age, and suggested that low-birth weight (especially very-low-birth weight), preterm (especially very preterm), and small-for-gestational-age births, rather than high-birth weight, postterm, and large-for-gestational-age births, were associated with increased risk of ASD diagnosis. However, in view of marked between-study heterogeneity in most conditions, unknown effects of certain important confounders associated with ASD due to limited information in original articles, and included studies from a relatively small number of countries, the findings of this study should be interpreted with caution.

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18. Inoue M, Okamoto K. Japanese Parents’ Experiences with Home-Based Interventions of Applied Behavior Analysis for Young Children with Autism Spectrum Disorders. Yonago Acta Med;2022 (Aug);65(3):266-269.

This study involved qualitative analyses of the benefits and difficulties of providing home-based Applied Behavior Analysis (ABA) for Japanese parents of young children with autism spectrum disorder (ASD). An open-ended questionnaire survey was administered to 35 parents of children with autism who were implementing home-based ABA. The mean age of the parents was 38.7 years old (SD = 3.80), and the time since initiation of home-based ABA was 25.5 months (SD = 19.58). The mean age of the children with ASD was 64.5 months old (SD = 37.7). Data were analyzed using the KJ method of qualitative analysis. The benefits of implementing home-based ABA were related to growth of the parents themselves and child development. Identified difficulties included balancing work and household responsibilities and psychological problems. These findings were then compared with similar previous studies to discuss support for families implementing in-home ABA programs.

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19. Ionescu S, Jourdan-Ionescu C. [Autism Spectrum Disorders: What the COVID-19 Pandemic Has Taught Us]. Ann Med Psychol (Paris);2022 (Sep 6)

The article is devoted to the consequences of the pandemic caused by SARS-CoV-2 and more particularly, of the preventive measures adopted during this period on people with autism spectrum disorders (ASD). These people are more at risk (especially in cases of comorbidity with intellectual disability) of being infected and hospitalized longer. This increased risk is explained by the presence of biological risk factors (increased cytokines, decreased melatonin) and by psychological factors related to the clinical picture of ASD. Hesitancy concerning COVID vaccinations is discussed in relation to the erroneously purported link between vaccination and the onset of autism. As expected, the pandemic has had negative effects on the clinical picture of children, adolescents, and adults with ASD: sleep disorders, increased behavioural disorders, more stereotypies, parental distress. Unexpectedly, researchers and clinicians have also highlighted the positive effects of the pandemic, described as the « paradoxical‿ effects (improved communication and relationships, decreased anxiety, being happier because of being more in control over their schedule). The explanation for these effects was related to non-attendance at school and, thus, no bullying, decreased sensory and social overload, increased time spent at home, and solidarity with the autistic community and with the entire community. Finally, the question of the transfer of certain conditions that contributed to the above-mentioned improvements to the post-pandemic period is addressed.

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20. Konrad J, Marrus N, Lang CE. A Feasibility Study of Bilateral Wrist Sensors for Measuring Motor Traits in Children With Autism. Percept Mot Skills;2022 (Sep 6):315125221125275.

Direct, quantitative measures of hyperactivity and motor coordination, two motor characteristics associated with impairment in autism, are limited. Wearable sensors can objectively index real-world movement variables that may relate to these behaviors. Here, we explored the feasibility of bilateral wrist accelerometers for measuring upper limb activity in 3-10-year-olds with autism (n = 22; 19 boys, 3 girls; M age = 5.64, SD = 2.73 years) and without autism (n = 26; 15 boys, 11 girls; M age = 6.26, SD = 2.47 years). We investigated the relationships between movement characteristics related to duration, intensity, complexity, and symmetry on the one hand and parent-reported hyperactivity and motor coordination on the other. Participants with and without autism wore the sensors for 12-hour periods. Sensor variables varied by age but not sex, with movement intensity and complexity moderately related to motor coordination. These findings lend preliminary support to wearable sensors as a means of providing ecologically-valid metrics of motor characteristics that impact adaptive function in children with autism.

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21. Korisky A, Gordon I, Goldstein A. Oxytocin impacts top-down and bottom-up social perception in adolescents with ASD: a MEG study of neural connectivity. Mol Autism;2022 (Sep 5);13(1):36.

BACKGROUND: In the last decade, accumulative evidence has shown that oxytocin can modulate social perception in typically developed individuals and individuals diagnosed with autism. While several studies show that oxytocin (OT) modulates neural activation in social-related neural regions, the mechanism that underlies OT effects in ASD is not fully known yet. Despite evidence from animal studies on connections between the oxytocinergic system and excitation/inhibition neural balance, the influence of OT on oscillatory responses among individuals with ASD has been rarely examined. To bridge these gaps in knowledge, we investigated the effects of OT on both social and non-social stimuli while focusing on its specific influence on the neural connectivity between three socially related neural regions-the left and right fusiform and the medial frontal cortex. METHODS: Twenty-five adolescents with ASD participated in a wall-established social task during a randomized, double-blind placebo-controlled MEG and OT administration study. Our main task was a social-related task that required the identification of social and non-social-related pictures. We hypothesized that OT would modulate the oscillatory connectivity between three pre-selected regions of interest to be more adaptive to social processing. Specifically, we focused on alpha and gamma bands which are known to play an important role in face processing and top-down/bottom-up balance. RESULTS: Compared to placebo, OT reduced the connectivity between the medial frontal cortex and the fusiform in the low gamma more for social stimuli than for non-social ones, a reduction that was correlated with individuals’ performance in the task. Additionally, for both social and non-social stimuli, OT increased the connectivity in the alpha and beta bands. LIMITATIONS: Sample size was determined based on sample sizes previously reported in MEG in clinical populations, especially OT administration studies in combination with neuroimaging in ASD. We were limited in our capability to recruit for such a study, and as such, the sample size was not based on a priori power analysis. Additionally, we limited our analyses to specific neural bands and regions. To validate the current results, future studies may be needed to explore other parameters using whole-brain approaches in larger samples. CONCLUSION: These results suggest that OT influenced social perception by modifying the communication between frontal and posterior regions, an attenuation that potentially impacts both social and non-social early perception. We also show that OT influences differ between top-down and bottom-up processes, depending on the social context. Overall, by showing that OT influences both social-related perception and overall attention during early processing stages, we add new information to the existing understanding of the impact of OT on neural processing in ASD. Furthermore, by highlighting the influence of OT on early perception, we provide new directions for treatments for difficulties in early attentional phases in this population. Trial registration Registered on October 27, 2021-Retrospectively registered, https://clinicaltrials.gov/ct2/show/record/NCT05096676 (details on clinical registration can be found in www. CLINICALTRIAL: gov , unique identifier: NCT05096676 ).

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22. Montazeri F, Buitelaar JK, Oosterling IJ, de Bildt A, Anderson GM. Network Structure of Autism Spectrum Disorder Behaviors and Its Evolution in Preschool Children: Insights from a New Longitudinal Network Analysis Method. J Autism Dev Disord;2022 (Sep 6)

Network modeling of the social, communication and restrictive/repetitive behaviors (RRBs) included in the definition of Autism Spectrum Disorder was performed. The Autism Diagnostic Interview-Revised (ADI-R) assessed behaviors in 139 pre-school cases at two cross-sections that averaged 34.8 months apart. Cross-sectional networks were based on the correlation matrix of the ADI-R behavioral items and the « bootCross » method was developed and enabled the estimation of a longitudinal network. At both stages, RRB items/nodes formed a consistent peripheral cluster, while social and communication nodes formed a core cluster that diverged with time. These differences in the nature and evolution of the RRB and socio-communicative dimensions indicate that their inter-behavior dynamics are very different. The most central behaviors across stages are proposed as prime targets for efficient therapeutic intervention.

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23. Purushotham SS, Reddy NMN, D’Souza MN, Choudhury NR, Ganguly A, Gopalakrishna N, Muddashetty R, Clement JP. A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder. Exp Brain Res;2022 (Sep 5)

Intellectual disability (ID) and autism spectrum disorder (ASD) are neurodevelopmental disorders that have become a primary clinical and social concern, with a prevalence of 2-3% in the population. Neuronal function and behaviour undergo significant malleability during the critical period of development that is found to be impaired in ID/ASD. Human genome sequencing studies have revealed many genetic variations associated with ASD/ID that are further verified by many approaches, including many mouse and other models. These models have facilitated the identification of fundamental mechanisms underlying the pathogenesis of ASD/ID, and several studies have proposed converging molecular pathways in ASD/ID. However, linking the mechanisms of the pathogenic genes and their molecular characteristics that lead to ID/ASD has progressed slowly, hampering the development of potential therapeutic strategies. This review discusses the possibility of recognising the common molecular causes for most ASD/ID based on studies from the available models that may enable a better therapeutic strategy to treat ID/ASD. We also reviewed the potential biomarkers to detect ASD/ID at early stages that may aid in diagnosis and initiating medical treatment, the concerns with drug failure in clinical trials, and developing therapeutic strategies that can be applied beyond a particular mutation associated with ASD/ID.

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24. Qi X, Yang T, Chen J, Dai Y, Chen L, Wu L, Hao Y, Li L, Zhang J, Ke X, Yi M, Hong Q, Fang S, Wang Y, Wang Q, Jin C, Jia F, Li T. Vitamin D status is primarily associated with core symptoms in children with autism spectrum disorder: A multicenter study in China. Psychiatry Res;2022 (Aug 22);317:114807.

OBJECTIVE: We aimed to investigate the relationship between vitamin D status and core symptoms and neurodevelopmental levels in children with ASD with a multicenter survey. METHODS: We enrolled 1321 ASD children and 1279 typically developing (TD) children aged 2-7 years from 13 cities in China. ASD symptoms were assessed with the Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS) and Childhood Autism Rating Scale (CARS), and neurodevelopmental levels were evaluated with the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). RESULTS: Children with ASD had lower serum 25(OH)D levels than TD children. Serum 25(OH)D levels were negatively associated with CARS and communication warning behavior of CNBS-R2016 scores, and were not associated with the development quotients of ASD children. ASD Children were grouped based on the quartiles for 25(OH)D levels in the controls, and children in the first to third quartiles had higher SRS social communication and/or CARS and communication warning behavior of CNBS-R2016 scores than those in the fourth quartile. CONCLUSIONS: Serum 25(OH)D levels were primarily associated with core symptoms in children with ASD, and individuals with relatively lower 25(OH)D levels displayed worse autistic symptomatology. More research is needed to determine whether vitamin D supplements would be a useful treatment for ASD.

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25. Qian C, Tei S, Itahashi T, Aoki YY, Ohta H, Hashimoto RI, Nakamura M, Takahashi H, Kato N, Fujino J. Intergroup bias in punishing behaviors of adults with autism spectrum disorder. Front Psychiatry;2022;13:884529.

Groups are essential elements of society, and humans, by nature, commonly manifest intergroup bias (i.e., behave more positively toward an ingroup member than toward an outgroup member). Despite the growing evidence of various types of altered decision-making in individuals with autism spectrum disorder (ASD), their behavior under the situation involving group membership remains largely unexplored. By modifying a third-party punishment paradigm, we investigated intergroup bias in individuals with ASD and typical development (TD). In our experiment, participants who were considered as the third party observed a dictator game wherein proposers could decide how to distribute a provided amount of money while receivers could only accept unconditionally. Participants were confronted with two different group situations: the proposer was an ingroup member and the recipient was an outgroup member (IN/OUT condition) or the proposer was an outgroup member and the recipient was an ingroup member (OUT/IN condition). Participants with TD punished proposers more severely when violating social norms in the OUT/IN condition than in IN/OUT condition, indicating that their decisions were influenced by the intergroup context. This intergroup bias was attenuated in individuals with ASD. Our findings deepen the understanding of altered decision-making and socioeconomic behaviors in individuals with ASD.

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26. Qin C, Zhu X, Ye L, Peng L, Li L, Wang J, Ma J, Liu T. Autism detection based on multiple time scale model. J Neural Eng;2022 (Sep 6);19(5)

Objective.Current autism clinical detection relies on doctor observation and filling of clinical scales, which is subjective and prone to misdetection. Existing autism research of functional magnetic resonance imaging (fMRI) over-compresses the time-scale information and has poor generalization ability. This study extracts multiple time scale brain features of fMRI, providing objective detection.Approach. We first use least absolute shrinkage and selection operator to build a sparse network and extract features with a time scale of 1. Then, we use hidden markov model to extract features that describe the dynamic changes of the brain, with a time scale of 2. Additionally, to analyze the features of the potential network activity of autism from a higher time scale, we use long short-term memory to construct an auto-encoder to re-encode the original data and extract the features at a higher time scale, with a time scale ofT, andTis the time length of fMRI. We use recursive feature elimination for feature selection for three different time scale features, merge them into multiple time scale features, and finally use one-dimensional convolution neural network for classification.Main results. Compared with well-established models, our method has achieved better results. The accuracy of our method is 76.0%, and the area under the roc curve is 0.83, tested on completely independent data, so our method has better generalization ability.Significance. This research analyzes fMRI sequences from multiple time scale to detect autism, and it also provides a new framework and research ideas for subsequent fMRI analysis.

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27. Raghavan K, Dedeepiya VD, Yamamoto N, Ikewaki N, Sonoda T, Iwasaki M, Kandaswamy RS, Senthilkumar R, Preethy S, Abraham SJK. Benefits of Gut Microbiota Reconstitution by Beta 1,3-1,6 Glucans in Subjects with Autism Spectrum Disorder and Other Neurodegenerative Diseases. J Alzheimers Dis;2022 (Sep 6)

BACKGROUND: Aureobasidium pullulans (black yeast) AFO-202 strain-produced beta glucan, Nichi Glucan, has been shown to improve the behavior and sleep pattern along with an increase in α-synuclein and melatonin in children with autism spectrum disorder (ASD). OBJECTIVE: In this randomized pilot clinical study, we have evaluated the gut microbiota of subjects with ASD after consumption of Nichi Glucan. METHODS: Eighteen subjects with ASD were randomly allocated: six subjects in the control group (Group 1): conventional treatment comprising remedial behavioral therapies and L-carnosine 500 mg per day, and 12 subjects (Group 2) underwent supplementation with Nichi Glucan 0.5 g twice daily along with the conventional treatment for 90 days. RESULTS: Whole genome metagenome (WGM) sequencing of the stool samples at baseline and after intervention showed that among genera of relevance, the abundance of Enterobacteriaceae was decreased almost to zero in Group 2 after intervention, whereas it increased from 0.36% to 0.85% in Group 1. The abundance of Bacteroides increased in Group 1, whereas it decreased in Group 2. The abundance of Prevotella increased while the abundance of Lactobacillus decreased in both Group 1 and Group 2. Among species, a decrease was seen in Escherichia coli, Akkermansia muciniphila CAG:154, Blautia spp., Coprobacillus sp., and Clostridium bolteae CAG:59, with an increase of Faecalibacterium prausnitzii and Prevotella copri, which are both beneficial. CONCLUSION: AFO-202 beta 1,3-1,6 glucan, in addition to balancing the gut microbiome in children with ASD and its role in effective control of curli-producing Enterobacteriaceae that leads to α-synuclein misfolding and accumulation, may have a prophylactic role in Parkinson’s and Alzheimer’s diseases as well.

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28. Susco SG, Ghosh S, Mazzucato P, Angelini G, Beccard A, Barrera V, Berryer MH, Messana A, Lam D, Hazelbaker DZ, Barrett LE. Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models. Cell Rep;2022 (Sep 6);40(10):111312.

Down syndrome (DS), driven by an extra copy of chromosome 21 (HSA21), and fragile X syndrome (FXS), driven by loss of the RNA-binding protein FMRP, are two common genetic causes of intellectual disability and autism. Based upon the number of DS-implicated transcripts bound by FMRP, we hypothesize that DS and FXS may share underlying mechanisms. Comparing DS and FXS human pluripotent stem cell (hPSC) and glutamatergic neuron models, we identify increased protein expression of select targets and overlapping transcriptional perturbations. Moreover, acute upregulation of endogenous FMRP in DS patient cells using CRISPRa is sufficient to significantly reduce expression levels of candidate proteins and reverse 40% of global transcriptional perturbations. These results pinpoint specific molecular perturbations shared between DS and FXS that can be leveraged as a strategy for target prioritization; they also provide evidence for the functional relevance of previous associations between FMRP targets and disease-implicated genes.

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29. Vilela J, Martiniano H, Marques AR, Santos JX, Rasga C, Oliveira G, Vicente AM. Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders. Front Mol Neurosci;2022;15:932305.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we established a genetic similarity disease network approach to explore the shared genetics between ASD and frequent comorbid brain diseases (and subtypes), namely Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy, as well as other rarely co-occurring neuropsychiatric conditions in the Schizophrenia and Bipolar Disease spectrum. Using sets of disease-associated genes curated by the DisGeNET database, disease genetic similarity was estimated from the Jaccard coefficient between disease pairs, and the Leiden detection algorithm was used to identify network disease communities and define shared biological pathways. We identified a heterogeneous brain disease community that is genetically more similar to ASD, and that includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. To identify loss-of-function rare de novo variants within shared genes underlying the disease communities, we analyzed a large ASD whole-genome sequencing dataset, showing that ASD shares genes with multiple brain disorders from other, less genetically similar, communities. Some genes (e.g., SHANK3, ASH1L, SCN2A, CHD2, and MECP2) were previously implicated in ASD and these disorders. This approach enabled further clarification of genetic sharing between ASD and brain disorders, with a finer granularity in disease classification and multi-level evidence from DisGeNET. Understanding genetic sharing across disorders has important implications for disease nosology, pathophysiology, and personalized treatment.

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30. Vivanti G. What does it mean for an autism intervention to be evidence-based?. Autism Res;2022 (Sep 6)

Although there is consensus in the field that individuals on the autism spectrum should receive interventions that are evidence-based, the concept of « evidence-based » is multifaceted and subject to ongoing development and debate. In this commentary, we review historical developments, methodological approaches, as well as areas of controversies and research directions in the establishment of an evidence base for autism intervention. LAY SUMMARY: What does it mean for an autism intervention to be evidence-based? In this commentary, we address this complex issue by examining historical developments, methodological approaches, as well as areas of ongoing debate in the establishment of evidence-based interventions for autism.

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31. Yon-Hernández JA, Wojcik DZ, García-García L, Magán-Maganto M, Franco-Martín M, Canal-Bedia R. Neuropsychological profile of executive functions in autism spectrum disorder and schizophrenia spectrum disorders: a comparative group study in adults. Eur Arch Psychiatry Clin Neurosci;2022 (Sep 5)

As assessed by numerous neuropsychological tasks, individuals with autism spectrum disorder (ASD) and schizophrenia spectrum disorders (SSDs) have similar impairments related to executive functions (EFs). The neuropsychological profile of these two conditions was examined using the three-component EFs’ framework of Miyake and Friedman (Cogn Psychol 41(1):49-100, 2000). This approach assesses Inhibition (suppression of unwanted and irrelevant information/responses), Updating (use and control of contents of working memory), and Shifting (disengagement between activities or mental tasks) using nine different tasks. In line with previous research, we expected greater performance deficits in ASD in all three components compared to SSD, as well as faster responses for the SSD group. A self-paced task format allowed us to examine whether unlimited time given for a task would lead to better performance. The sample was constituted by the control group (N = 25), ASD group (N = 24), and SSD group (N = 12). Groups did not differ on Inhibition performance. In Updating, individuals with SSD performed poorer than the other groups. As for Shifting, both groups demonstrated poorer performance compared to controls, with the SSD group presenting the greatest difficulties. In terms of reaction time (RT), SSD participants’ RT were the slowest on Inhibition and Shifting tasks. There was a positive correlation between performance and time spent on Inhibition and Shifting only for the SSD group, which demonstrates that their performance improves when there are no time constraints. Our work provides a better understanding of spared and impaired EFs, which could be useful for designing strategies aimed at improving specific EFs in each group.

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32. Yue Y, Ash RT, Boyle N, Kinter A, Li Y, Zeng C, Lu H. MeCP2 deficiency impairs motor cortical circuit flexibility associated with motor learning. Mol Brain;2022 (Sep 5);15(1):76.

Loss of function mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MECP2) cause Rett syndrome (RTT), a postnatal neurological disorder. The loss of motor function is an important clinical feature of RTT that manifests early during the course of the disease. RTT mouse models with mutations in the murine orthologous Mecp2 gene replicate many human phenotypes, including progressive motor impairments. However, relatively little is known about the changes in circuit function during the progression of motor deficit in this model. As the motor cortex is the key node in the motor system for the control of voluntary movement, we measured firing activity in populations of motor cortical neurons during locomotion on a motorized wheel-treadmill. Different populations of neurons intermingled in the motor cortex signal different aspects of the locomotor state of the animal. The proportion of running selective neurons whose activity positively correlates with locomotion speed gradually decreases with weekly training in wild-type mice, but not in Mecp2-null mice. The fraction of rest-selective neurons whose activity negatively correlates with locomotion speed does not change with training in wild-type mice, but is higher and increases with the progression of locomotion deficit in mutant mice. The synchronization of population activity that occurs in WT mice with training did not occur in Mecp2-null mice, a phenotype most clear during locomotion and observable across all functional cell types. Our results could represent circuit-level biomarkers for motor regression in Rett syndrome.

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33. 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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