1. Uncovering links between parental inflammatory bowel disease and autism in children. Nat Med;2022 (Jul 13):1-2.

Findings from a nationwide cohort study in Sweden, polygenic risk score analyses in a general population-based cohort in the United Kingdom, Mendelian randomization analyses and genetic correlation (linkage disequilibrium) analyses suggest a link between parental diagnosis of and genetic liability to inflammatory bowel disease and autism in children.

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2. Alder ML, Johnson CR, Zauszniewski JA, Malow BA, Burant CJ, Scahill L. Feasibility of Actigraphy for Evaluating Sleep and Daytime Physical Activity in Children with Autism Spectrum Disorder. J Autism Dev Disord;2022 (Jul 13)

This research evaluated the feasibility of actigraphy to measure sleep and physical activity in children (ages 2-8 years) with autism spectrum disorder (ASD). We also explored associations between sleep and physical activity. Validated screening measures established eligibility. Questionnaires, diaries, and 5 days and 5 nights of actigraphy monitoring were used to collect data. Of the 32 children enrolled, 27 (84.4%) completed actigraphy monitoring. Based on the median steps per day, children with high physical activity had lower total sleep time and more disruptive behaviors than children with low physical activity. Findings support the feasibility of using actigraphy to measure sleep and physical activity in children with ASD. Larger studies are needed to evaluate interactions of physical activity on sleep in this population.

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3. Ash RT, Palagina G, Fernandez-Leon JA, Park J, Seilheimer R, Lee S, Sabharwal J, Reyes F, Wang J, Lu D, Sarfraz M, Froudarakis E, Tolias AS, Wu SM, Smirnakis SM. Increased reliability of visually-evoked activity in area V1 of the MECP2-duplication mouse model of autism. J Neurosci;2022 (Jul 13)

Atypical sensory processing is now thought to be a core feature of the autism spectrum. Influential theories have proposed that both increased and decreased neural response reliability within sensory systems could underlie altered sensory processing in autism. Here, we report evidence for abnormally increased reliability of visual-evoked responses in layer 2/3 neurons of adult male and female primary visual cortex in the MECP2-duplication syndrome animal model of autism. Increased response reliability was due in part to decreased response amplitude, decreased fluctuations in endogenous activity, and an abnormal decoupling of visual-evoked activity from endogenous activity. Similar to what was observed neuronally, the optokinetic reflex occurred more reliably at low contrasts in mutant mice compared to controls. Retinal responses did not explain our observations. These data suggest that the circuit mechanisms for combining sensory-evoked and endogenous signal and noise processes may be altered in this form of syndromic autism.SIGNIFICANT STATEMENT:Atypical sensory processing is now thought to be a core feature of the autism spectrum. Influential theories have proposed that both increased and decreased neural response reliability within sensory systems could underlie altered sensory processing in autism. Here, we report evidence for abnormally increased reliability of visual-evoked responses in primary visual cortex of the animal model for MECP2-duplication syndrome, a high-penetrance single-gene cause of autism. Visual-evoked activity was abnormally decoupled from endogenous activity in mutant mice, suggesting in line with the influential « hypo-priors » theory of autism that sensory priors embedded in endogenous activity may have less influence on perception in autism.

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4. Basheer S, Uvais NA. Vaccination Behavior Among Children With Developmental Delay and Their Siblings: A Cross-Sectional Study From India. Prim Care Companion CNS Disord;2022 (Jul 12);24(4)

Objective: Despite scientific evidence to the contrary, parental concerns with respect to the association between vaccination and development of autism spectrum disorder persist. The objective of this study was to assess the vaccination uptake and its associated factors in siblings of children with developmental delay. Methods: This cross-sectional study was conducted from December 2017 to February 2018. The families of children with developmental delay, according to evaluation by a psychiatrist per ICD-10 criteria, were recruited from 3 child development centers. The data were collected using a semistructured questionnaire. Results: 189 families with children with developmental delay were recruited into the study. In total, these children had 114 typically developing elder siblings and 50 typically developing younger siblings. The proportions of overall complete vaccination among the children with developmental delay group and the younger sibling group were significantly lower than the older sibling group (P < .01). The proportions of MMR (mumps, measles, and rubella) vaccination among the children with developmental delay group and the younger sibling group were significantly lower than the older sibling group (P < .001). Conclusions: Findings from this study suggest that reduced vaccination uptake is a general trend in families of children with developmental delay. Such a significant decline in the vaccination rate in this group of children will make them vulnerable if outbreaks occur. Therefore, public health strategies targeted to improve vaccination rates in families of children with developmental delay are needed.

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5. Borra D, Magosso E, Castelo-Branco M, Simões M. A Bayesian-optimized design for an interpretable convolutional neural network to decode and analyze the P300 response in autism. J Neural Eng;2022 (Jul 14);19(4)

Objective.P300 can be analyzed in autism spectrum disorder (ASD) to derive biomarkers and can be decoded in brain-computer interfaces to reinforce ASD impaired skills. Convolutional neural networks (CNNs) have been proposed for P300 decoding, outperforming traditional algorithms but they (a) do not investigate optimal designs in different training conditions; (b) lack in interpretability. To overcome these limitations, an interpretable CNN (ICNN), that we recently proposed for motor decoding, has been modified and adopted here, with its optimal design searched via Bayesian optimization.Approach.The ICNN provides a straightforward interpretation of spectral and spatial features learned to decode P300. The Bayesian-optimized (BO) ICNN design was investigated separately for different training strategies (within-subject, within-session, and cross-subject) and BO models were used for the subsequent analyses. Specifically, transfer learning (TL) potentialities were investigated by assessing how pretrained cross-subject BO models performed on a new subject vs. random-initialized models. Furthermore, within-subject BO-derived models were combined with an explanation technique (ICNN + ET) to analyze P300 spectral and spatial features.Main results.The ICNN resulted comparable or even outperformed existing CNNs, at the same time being lighter. BO ICNN designs differed depending on the training strategy, needing more capacity as the training set variability increased. Furthermore, TL provided higher performance than networks trained from scratch. The ICNN + ET analysis suggested the frequency range [2, 5.8] Hz as the most relevant, and spatial features showed a right-hemispheric parietal asymmetry. The ICNN + ET-derived features, but not ERP-derived features, resulted significantly and highly correlated to autism diagnostic observation schedule clinical scores.Significance.This study substantiates the idea that a CNN can be designed both accurate and interpretable for P300 decoding, with an optimized design depending on the training condition. The novel ICNN-based analysis tool was able to better capture ASD neural signatures than traditional event-related potential analysis, possibly paving the way for identifying novel biomarkers.

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6. Butera CD, Harrison L, Kilroy E, Jayashankar A, Shipkova M, Pruyser A, Aziz-Zadeh L. Relationships between alexithymia, interoception, and emotional empathy in autism spectrum disorder. Autism;2022 (Jul 14):13623613221111310.

Empathy, the ability to understand and share the emotions of others, is a necessary skill for social functioning and can be categorized into cognitive and emotional empathy. There is evidence to suggest that individuals with autism spectrum disorder have difficulties with cognitive empathy, the ability to imagine how another person is thinking or feeling. However, it is unclear if individuals with autism spectrum disorder struggle with emotional empathy, the ability to share and feel emotions others are experiencing. Self-report and interview data were collected to explore the relationships between interoception (individuals’ self-reported awareness of sensation from their body such as thirst, heartbeat, etc.), alexithymia (an individual’s ability to describe and distinguish between their own emotions), and emotional empathy in 35 youth with autism spectrum disorder and 40 typically developing youth. Greater personal distress to others’ emotions and greater difficulty describing and recognizing self-emotions were associated with reporting fewer physical sensations in the body when experiencing emotion in the autism spectrum disorder group. The results of this study suggest that while autism spectrum disorder youth with concomitant alexithymia may experience emotional empathy differently, it should not be characterized as an absence of a capacity for emotional empathy.

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7. Chiu HM, Chen CT, Tsai CH, Li HJ, Wu CC, Huang CY, Chen KL. Theory of Mind Predicts Social Interaction in Children with Autism Spectrum Disorder: A Two-Year Follow-Up Study. J Autism Dev Disord;2022 (Jul 13)

This two-year follow-up study examined the predictive relationships of theory of mind (ToM) to social interaction by reciprocal social behaviors (RSBs) and social functioning (SF) in 106 children with ASD. The results of the path analysis showed that the earlier ToM predicted children’s current component RSBs (B = 3.53, SE = 1.86, p = 0.039) and the current SF (B = 1.79-1.87, SE = 0.03-0.34, p < 0.001). The aloof and passive social interaction styles predicted fewer turn-taking of RSBs (B =  - 48.77 to - 111.17, p < 0.001) and fewer components of RSBs (B =  - 36.30 to - 81.41, p < 0.001). This finding provides empirical evidence that ToM predicts social interaction in children with ASD.

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8. Connacher R, Williams M, Prem S, Yeung PL, Matteson P, Mehta M, Markov A, Peng C, Zhou X, McDermott CR, Pang ZP, Flax J, Brzustowicz L, Lu CW, Millonig JH, DiCicco-Bloom E. Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses. Stem Cell Reports;2022 (Jul 12);17(7):1786.

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9. da Cruz FM. Multimodal interaction analysis of non-lexical vocalisations in low-verbal autistic children. Clin Linguist Phon;2022 (Jul 13):1-22.

This article analyses non-lexical vocalisations produced by low-verbal autistic children. Seven dyads of naturalistic interactions between non-autistic adults and low-verbal autistic children over five years old were analysed from a multimodal conversation analysis perspective. Data were extracted from an audio-visual corpus of interactions in institutional (school) and non-institutional settings (home). The data are in Brazilian Portuguese. The videos are visualised using the ELAN tool and transcribed. The analyses showed that in some cases participants did not reach a mutual understanding of the semantic meaning of non-lexical vocalisations, while in other cases, the meanings of vocalisations emerged between the participants in the multimodal process of sense-making in their embodied context. A microanalysis of where these vocalisations occurred and their multimodal aspects (linguistics, bodily, material, and spatial) suggests that: a) such occurrences are both initiated by the autistic child and responsive to the non-autistic interlocutor’s turn; b) some vocalisations play an important role in the sequential organisation of the interaction, promoting the maintenance of intersubjective of low verbal children; and c) non-autistic adult interlocutors perform a varied set of actions, recycling, incorporating, retaking, assigning meaning, and repairing the non-lexical vocalisations produced by autistic children. The indexical analysis shows how communicative ecologies create meaning. This study thus contributes to our understanding of the interactional behaviour of these children and their interlocutors.

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10. Davis K, Iosif AM, Nordahl CW, Solomon M, Krug MK. Video Game Use, Aggression, and Social Impairment in Adolescents with Autism Spectrum Disorder. J Autism Dev Disord;2022 (Jul 12)

We used parent report data to investigate video game playing, aggression, and social impairment in adolescents with autism spectrum disorder. Parents of autistic adolescents were more likely to report that their child plays video games as a hobby compared to parents of adolescents with typical development and also reported that their children spent more time playing video games. For autistic participants, we found no differences in aggression levels or social impairment when comparing players versus non-players. However, playing video games « more than average, » as compared to « average » was associated with greater aggression and greater social impairment on « awareness » and « mannerisms » subscales. Future studies should focus on how type of video game(s) played is associated with these clinically important variables.

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11. Fenning RM, Butter EM, Norris M, Chan J, Macklin EA, McKinnon-Bermingham K, Albright C, Stephenson KG, Scherr J, Moffitt J, Hess A, Steinberg-Epstein R, Kuhlthau KA. Optimizing Parent Training to Improve Oral Health Behavior and Outcomes in Underserved Children with Autism Spectrum Disorder. J Autism Dev Disord;2022 (Jul 14)

A randomized controlled trial established initial efficacy of a novel parent training (PT) intervention for improving oral hygiene and oral health in underserved children with ASD (Fenning et al., 2022), a population at risk for unmet dental needs. The present study describes our emic approach to PT development alongside treatment outcome data examining feasibility, acceptability, and engagement. Families with Medicaid-eligible children with ASD ages 3 to 13 years (85% male, 62% with intellectual disability) were assigned to receive PT (n = 60) or a psychoeducational toolkit (n = 59). Results indicate strong retention, fidelity, and adherence, with quantitative and qualitative metrics revealing high treatment satisfaction and utilization. Discussion focuses on implications for individualizing treatment to optimize engagement of underrepresented families.

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12. Gibbs V, Hudson J, Pellicano E. The Extent and Nature of Autistic People’s Violence Experiences During Adulthood: A Cross-sectional Study of Victimisation. J Autism Dev Disord;2022 (Jul 11)

This study investigated the extent and nature of violence experiences reported by autistic adults. Autistic (n = 118) and non-autistic (n = 110) adults completed a questionnaire about their experiences of sexual harassment, stalking and harassment, sexual violence and physical violence since the age of 15. Autistic adults reported higher rates of all violence types, multiple forms of violence and repeated instances of the same type of violence. Typical gender differences in the patterns of violence (more physical violence reported by men and more sexual violence reported by women) were apparent in the non-autistic but not the autistic group. Findings add to the limited research in this area and highlight the need to identify risk and protective factors. Policy and practice implications are also discussed.

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13. Irish JEN. An Exploratory Study Testing Environmental Wayfinding Aids as an Intervention for Children With Autism. HERD;2022 (Jul 12):19375867221111467.

PURPOSE: This exploratory mixed methods experiment aimed to determine whether the application of wayfinding aids (colored doors, shapes on the floor, and signage) as an intervention could help children with autism spectrum disorder (ASD) find their way to a destination to promote independence. BACKGROUND: Several individuals with ASD have described the difficulties they experienced finding their way in the environment. This is especially relevant to complex environments like healthcare. METHODS: Participants with ASD aged 8-11 (n = 9) were randomly assigned to control or treatment groups. The test location was an empty school corridor unfamiliar to participants. Each participant was shown the way to a destination using a script pointing out existing cues (control group) or applied wayfinding aids (treatment group). Participants were taken back to the start and then asked to lead the way to the destination. Afterward, they were interviewed about their experience. Data collection included observation, behavioral mapping, and video recording. RESULTS: The variable of wayfinding scripts helped all participants find their way to the destination, but those in the treatment group found their way directly compared to 75% of the control group. Wayfinding aids made the environment more memorable to those in the treatment group. Some children were distracted by environmental stimuli, and some noticed surprising elements that helped them wayfind. CONCLUSIONS: Study results suggest that wayfinding instruction could be used as an intervention in environments with and without the application of wayfinding aids. This needs further testing in other environments. Issues included recruitment and random assignment.

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14. Jackson SLJ, Abel EA, Reimer S, McPartland JC. Brief Report: A Specialized Fitness Program for Individuals with Autism Spectrum Disorder Benefits Physical, Behavioral, and Emotional Outcomes. J Autism Dev Disord;2022 (Jul 11)

Individuals with autism spectrum disorder (ASD) engage in less physical activity than typically-developing peers. This can result in serious negative consequences for individual well-being and may contribute to the physical, behavioral, and emotional challenges associated with ASD. This study explored the potential benefits of trainer-led, individualized, physical fitness sessions specialized for ASD. Eleven individuals (ages 7-24 years) with ASD were assessed at baseline and following 15 fitness sessions. Participants demonstrated improvements in core and lower-body strength and reductions in restricted and repetitive patterns of behavior, along with non-significant but marked reductions in issues with daytime sleepiness. Results suggest the merit of specialized fitness programs and emphasize the need for larger and more rigorous research studies on this topic.

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15. Kim SA. Transition to Kindergarten for Children on the Autism Spectrum: Perspectives of Korean-American Parents. J Autism Dev Disord;2022 (Jul 12)

This study explores Korean-American parents’ perceptions on successful transition to kindergarten (TTK) for their child on the autism spectrum. It further examines challenges experienced during this process, and possible predictors for their challenges. Findings from an online survey (N = 212) indicate that participants consider their child’s behavioral readiness and cooperation with teachers as the most important school readiness skills for successful TTK. They further consider building positive relationships with teachers and providing support at home as the most important support parents could provide during this process. Moreover, the child being a vocal communicator, higher income and parent’s educational level were found to buffer against their reported challenges, while first-generation immigrant status and restrictive school placement were found to predict more challenges.

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16. Lilley R, Lawson W, Hall G, Mahony J, Clapham H, Heyworth M, Arnold S, Trollor J, Yudell M, Pellicano E. « Peas in a pod »: Oral History Reflections on Autistic Identity in Family and Community by Late-Diagnosed Adults. J Autism Dev Disord;2022 (Jul 14)

In this paper, we report on a participatory oral history study documenting the lives of late-diagnosed autistic adults in Australia. We interviewed 26 autistic adults about their life history and the impact of late diagnosis. All were diagnosed after the age of 35, growing up in an era when autism was not well known. Using reflexive thematic analysis, we uncovered a rich body of reflections on shared Autistic identity and identified three major themes within that data set: ‘conceptualising the Autistic family’, ‘creating Autistic community’, and ‘contesting Autistic identity’. Overall, the study provides insights into the active creation of shared Autistic identity and the importance of Autistic community to these late-diagnosed autistic adults.

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17. Litwin S, Sellen K. Designing a Sensory Kit to Improve the Environment for Children with Autism Spectrum Disorder in the Pediatric Emergency Department. J Autism Dev Disord;2022 (Jul 14)

Children with autism spectrum disorder (ASD) have more frequent use of healthcare services, including visits to the emergency department (ED). Medical care for children with ASD can be adversely affected by the highly stimulating environment of the ED. In this study, we gained insights from stakeholders with lived experience (parents of children with ASD, children with ASD, and ED healthcare providers) to create and implement a sensory equipment kit. The kit was evaluated and iteratively improved based on observations of children using the sensory equipment, satisfaction surveys from their parents, and interviews with healthcare providers in the ED. Findings from this study can be used to guide other EDs in creating their own ASD sensory kit.

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18. Long J, Lu F, Yang S, Zhang Q, Chen X, Pang Y, Wang M, He B, Liu H, Duan X, Chen H, Ye S. Different functional connectivity optimal frequency in autism compared with healthy controls and the relationship with social communication deficits: Evidence from gene expression and behavior symptom analyses. Hum Brain Mapp;2022 (Jul 13)

Studies have reported that different brain regions/connections possess distinct frequency properties, which are related to brain function. Previous studies have proposed altered brain activity frequency and frequency-specific functional connectivity (FC) patterns in autism spectrum disorder (ASD), implying the varied dominant frequency of FC in ASD. However, the difference of the dominant frequency of FC between ASD and healthy controls (HCs) remains unclear. In the present study, the dominant frequency of FC was measured by FC optimal frequency, which was defined as the intermediate of the frequency bin at which the FC strength could reach the maximum. A multivariate pattern analysis was conducted to determine whether the FC optimal frequency in ASD differs from that in HCs. Partial least squares regression (PLSR) and enrichment analyses were conducted to determine the relationship between the FC optimal frequency difference of ASD/HCs and cortical gene expression. PLSR analyses were also performed to explore the relationship between FC optimal frequency and the clinical symptoms of ASD. Results showed a significant difference of FC optimal frequency between ASD and HCs. Some genes whose cortical expression patterns are related to the FC optimal frequency difference of ASD/HCs were enriched for social communication problems. Meanwhile, the FC optimal frequency in ASD was significantly related to social communication symptoms. These results may help us understand the neuro-mechanism of the social communication deficits in ASD.

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19. Losapio MF, Siquara GM, Lampreia C, Lázaro CP, Pondé MP. Translation into Brazilian Portuguese and validation of the M-CHAT-R/F scale for early screening of autism spectrum disorder. Rev Paul Pediatr;2022;41:e2021262.

OBJECTIVE: To translate and validate the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) from English to Brazilian Portuguese, taking transcultural differences into account. METHODS: Permission for the translation was obtained from the author of the scale. Translation and back-translation were performed, and the document was then assessed for reference and general equivalence. Specialists in childhood autism evaluated the scale. A preliminary version was prepared and pre-tested in a sample population, and a final version was validated with the target population. RESULTS: Only one question had issues relating to referential equivalence. The 10 individuals questioned in the pre-test all understood most of the instrument, although some suggested substituting certain terms to improve comprehension. The final version was reached following inclusion of pertinent suggestions and was submitted to validation with the target population, indicating a sensitivity of 88.2% for a cutoff point greater than 2 points. CONCLUSIONS: A Brazilian version of the M-CHAT-R/F scale, approved by specialists and understandable by the target audience, is now available for use.

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20. Miniati M, Marazziti D, Palagini L. Is Alexithymia the Link Between Anorexia and Autism Spectrum Disorders?. Clin Neuropsychiatry;2022 (Jun);19(3):137-149.

OBJECTIVE: Alexithymia main features include deficits in empathy, emotion recognition and regulation. Alexithymia has been recently proposed as a potential key to explain the presence of the so-called ‘autistic spectrum disorder’ signs (ASD), in patients with Anorexia Nervosa (AN). Objective of this review is to summarize current knowledge on the potential role of alexithymia in linking ASD and AN. METHOD: A systematic search has been conducted on PUBMED database of the last 10 years, in accordance with PRISMA Guidelines, applying queries in the ‘PubMed Advanced Search Builder’. RESULTS: We initially retrieved 18 papers; the final selection has led to seven papers. According to the available studies, alexithymia is widely represented in samples of AN patients and comorbid ASD traits. However, the specific load of alexithymia in AN with ASD features is still in debate, as well as the potential role of interoceptive deficits. We have found several limitations in the reviewed studies, which shared a cross-sectional design, with no comparison between a pre and a post-treatment condition (except for one study), small samples sizes and some heterogeneity of administered instruments. CONCLUSIONS: the specific load of alexithymia in explaining the link between AN and ASD is still in debate. Interoception deficit has been proposed as having a crucial role. Further research should be devoted to longitudinal studies and not only to cross-sectional observations.

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21. Muscatello RA, Pachol A, Romines A, Smith I, Corbett BA. Development and Parasympathetic Regulation in Male and Female Adolescents with Autism Spectrum Disorder: A Two-Timepoint Longitudinal Study. J Autism Dev Disord;2022 (Jul 12)

Prolonged dysregulation of the autonomic nervous system (ANS) may increase propensity for physical or psychiatric illness. The current study examined differences in respiratory sinus arrhythmia (RSA) regulation in 215 adolescents with or without autism spectrum disorder (ASD) at Time 1 (T1; 10-13 years old) and 1 year later (Time 2; T2). Linear mixed effects models demonstrated lower RSA regulation in ASD, and a small interaction effect, showing blunted change in RSA from T1 to T2. Developmental differences in RSA regulation were particularly notable in females with ASD and those taking psychotropic medications. Results expand previous findings of reduced parasympathetic regulation in ASD by revealing a blunted developmental slope, indicating diagnostic differences may persist or worsen over time, particularly in females.

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22. Posar A, Visconti P. What Underlies Autism Spectrum Disorder?. Turk Arch Pediatr;2022 (Jul);57(4):467-468.

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23. Rodriguez L, Morley-Fletcher A, Winter H, Buie T. « Evaluation of gastroesophageal reflux disease in children on the autism spectrum: a study evaluating the tolerance and utility of the BRAVO wireless pH monitoring ». J Pediatr Gastroenterol Nutr;2022 (Jul 13)

OBJECTIVE: Children on the autism spectrum disorder (ASD) may express pain or discomfort through stereotypic or self-injurious behaviors. Gastroesophageal reflux disease (GERD) may be challenging to diagnose in a child who is non-verbal or has impaired communication skills, diagnostic testing for GERD may be the only way to establish the diagnosis. We report our experience using the BRAVO wireless pH monitoring device for the evaluation of GERD in this patient population. METHODS: Tolerance and feasibility as well as pH parameters and symptom correlation of the BRAVO pH were evaluated retrospectively in ASD children and compared it to a large cohort of non-ASD children. Only patients with studies lasting >24 hours were included. RESULTS: A total of 172 patients were included, 27 of those were diagnosed with autism (median age 11 years, 17 male). We found no difference in age and weight between both groups but there was a male predominance in the autism group (p=0.007). We found no difference in the ability to complete at least 24 hours of study duration between both groups (24/27 or 89% in ASD vs. 133/145 or 92% non-ASD patients, p=0.632). We also found no difference in the median reflux index on the worst day (p=0.27) or the average of both days (p=0.75), BRAVO pH parameters and the proportion of abnormal studies between ASD and non-ASD children. When evaluating the overall symptom correlation with GER episodes we did not find a difference between both groups, but we did find a higher symptom correlation for GER symptom during supine position in ASD children. Study was performed for behavioral indication in 11 ASD children, all had normal esophageal mucosa but 4 of those had an abnormal BRAVO pH study.No significant side effects were reported during the study, only 2 patients (one non-ASD and one ASD) complained of self-limited chest pain. CONCLUSIONS: BRAVO wireless pH is well tolerated and feasible in evaluating GER and behavioral symptoms in ASD children and provides a reasonable alternative to standard trans-nasal pH monitoring.

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24. Silva VBD, Maia FA, Oliveira AJS, Cezar IAM, Bandeira LVS, Oliveira SLN, Rezende LF, Saeger VSA, Silveira MF. Association between autism spectrum disorder and peripartum events: a case-control study. Rev Paul Pediatr;2022;41:e2021220.

OBJECTIVE: To assess the association between peripartum events and autism spectrum disorder (ASD) development in children and adolescents. METHODS: The current research is a case-control study in northern Minas Gerais state, Brazil. The inclusion criteria in the case group included individuals whose medical records reported an autistic disorder diagnosis, individuals had this diagnosis further confirmed by Northern Minas Autistic Support Association and specialized clinics, and their mothers had to answer positively to the question: « Was your child diagnosed with autism spectrum disorder? » in the data collection instrument. Thus, the case group included 253 mothers of children/adolescents of 2-15 years old diagnosed with autism. The inclusion criteria in the control group included 852 individuals belonging to the same age group and enrolled in the same schools as the case group. A semi-structured questionnaire was applied for mothers of children/adolescents, and the multiple logistic regression model was adopted for data analysis. Gross and adjusted Odds Ratios (ORa) were used to estimate the magnitude of the associations. RESULTS: Autistic disorder was associated with the presence of meconium in amniotic fluid (AF) (ORa 1.67; 95% confidence interval [95%CI] 1.06-2.65) and cesarean delivery type (ORa 1.65; 95%CI 1.17-2.32). Emergency cesarean section increased autistic disorder development likelihood (ORa 2.38; 95%CI 1.61-3.51). Children and adolescents with ASD were more likely to have been exposed to two or more unfavorable peripartum events and obstetric complications than control groups (ORa 1.59; 95%CI 1.01-2.51). CONCLUSIONS: Meconium stained amniotic fluid, delivery by cesarean, and two or more unfavorable peripartum events are variables that should be considered in studies about ASD etiology.

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25. Simcoe SM, Gilmour J, Garnett MS, Attwood T, Donovan C, Kelly AB. Are there gender-based variations in the presentation of Autism amongst female and male children?. J Autism Dev Disord;2022 (Jul 13)

The Questionnaire for Autism Spectrum Conditions (Q-ASC; Attwood, Garnett & Rynkiewicz, 2011) is one of the few screening instruments that includes items designed to assess female-specific ASD-Level 1 traits. This study examined the ability of a modified version of the Q-ASC (Q-ASC-M; Ormond et al., 2018) to differentiate children with and without ASD-Level 1. Participants included 111 parents of autistic children and 212 parents of neurotypical children (5-12 years). Results suggested that the gendered behaviour, sensory sensitivity, compliant behaviours, imagination, and imitation subscales differentiated autistic females from neurotypical females. Compared to autistic males, autistic females had higher scores on gendered behaviour, sensory sensitivity, social masking, and imitation. Results are discussed in relation to early detection of autistic female children.

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26. Taketomi T, Yasuda T, Morita R, Kim J, Shigeta Y, Eroglu C, Harada R, Tsuruta F. Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability. Sci Rep;2022 (Jul 13);12(1):11891.

Hevin is a secreted extracellular matrix protein that is encoded by the SPARCL1 gene. Recent studies have shown that Hevin plays an important role in regulating synaptogenesis and synaptic plasticity. Mutations in the SPARCL1 gene increase the risk of autism spectrum disorder (ASD). However, the molecular basis of how mutations in SPARCL1 increase the risk of ASD is not been fully understood. In this study, we show that one of the SPARCL1 mutations associated with ASD impairs normal Hevin secretion. We identified Hevin mutants lacking the EF-hand motif through analyzing ASD-related mice with vulnerable spliceosome functions. Hevin deletion mutants accumulate in the endoplasmic reticulum (ER), leading to the activation of unfolded protein responses. We also found that a single amino acid substitution of Trp(647) with Arg in the EF-hand motif associated with a familial case of ASD causes a similar phenotype in the EF-hand deletion mutant. Importantly, molecular dynamics (MD) simulation revealed that this single amino acid substitution triggers exposure of a hydrophobic amino acid to the surface, increasing the binding of Hevin with molecular chaperons, BIP. Taken together, these data suggest that the integrity of the EF-hand motif in Hevin is crucial for proper folding and that ASD-related mutations impair the export of Hevin from the ER. Our data provide a novel mechanism linking a point mutation in the SPARCL1 gene to the molecular and cellular characteristics involved in ASD.

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27. Tu Z, Fan C, Davis AK, Hu M, Wang C, Dandamudi A, Seu KG, Kalfa TA, Lu QR, Zheng Y. Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling. Cell Rep;2022 (Jul 12);40(2):111072.

CHD8 is an ATP-dependent chromatin-remodeling factor whose monoallelic mutation defines a subtype of autism spectrum disorders (ASDs). Previous work found that CHD8 is required for the maintenance of hematopoiesis by integrating ATM-P53-mediated survival of hematopoietic stem/progenitor cells (HSPCs). Here, by using Chd8(F/F)Mx1-Cre combined with a Trp53(F/F) mouse model that suppresses apoptosis of Chd8(-/-) HSPCs, we identify CHD8 as an essential regulator of erythroid differentiation. Chd8(-/-)P53(-/-) mice exhibited severe anemia conforming to congenital dyserythropoietic anemia (CDA) phenotypes. Loss of CHD8 leads to drastically decreased numbers of orthochromatic erythroblasts and increased binucleated and multinucleated basophilic erythroblasts with a cytokinesis failure in erythroblasts. CHD8 binds directly to the gene bodies of multiple Rho GTPase signaling genes in erythroblasts, and loss of CHD8 results in their dysregulated expression, leading to decreased RhoA and increased Rac1 and Cdc42 activities. Our study shows that autism-associated CHD8 is essential for erythroblast cytokinesis.

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28. Wehman P, Schall C, Avellone L, McDonough J, Whittenburg H, Dubois T, Broda M. Correction: Effects of a 9-Month Military-Base Internship on the Competitive Integrated Employment of Military Dependent and Connected Youth with ASD. J Autism Dev Disord;2022 (Jul 12)

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29. Yingling ME, Ruther MH, Dubuque EM. Geographic Access to Registered Behavior Technicians among Children with Autism Spectrum Disorder. Behav Anal Pract;2022 (Jul 7):1-9.

Research has documented inequities in geographic access to board certified behavior analysts (BCBAs) among children with autism spectrum disorder (ASD). Unexplored is geographic access to registered behavior technicians (RBTs), the frontline ABA providers BCBAs supervise. In this study we examined county-level geographic access to RBTs in the United States, including change in their geographic distribution over time, the current distribution of RBTs related to the distribution of BCBAs, and the current distribution of RBTs as a function of children with ASD. The sample included all U.S. counties in all 50 states and the District of Columbia (N = 3,138). County-level ASD/RBT ratios indicate that the number of children with ASD far exceed RBTs, and the geographic accessibility of RBTs appears to be superior to that of BCBAs.

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