1. Correction to: Factors Influencing Music Therapists’ Retention of Clinical Hours with Autistic Clients over Telehealth During the COVID-19 Pandemic. J Music Ther;2024 (May 16);61(2):213.

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2. Andrews DS, Diers K, Lee JK, Harvey DJ, Heath B, Cordero D, Rogers SJ, Reuter M, Solomon M, Amaral DG, Nordahl CW. Sex differences in trajectories of cortical development in autistic children from 2-13 years of age. Mol Psychiatry;2024 (May 16)

Previous studies have reported alterations in cortical thickness in autism. However, few have included enough autistic females to determine if there are sex specific differences in cortical structure in autism. This longitudinal study aimed to investigate autistic sex differences in cortical thickness and trajectory of cortical thinning across childhood. Participants included 290 autistic (88 females) and 139 nonautistic (60 females) individuals assessed at up to 4 timepoints spanning ~2-13 years of age (918 total MRI timepoints). Estimates of cortical thickness in early and late childhood as well as the trajectory of cortical thinning were modeled using spatiotemporal linear mixed effects models of age-by-sex-by-diagnosis. Additionally, the spatial correspondence between cortical maps of sex-by-diagnosis differences and neurotypical sex differences were evaluated. Relative to their nonautistic peers, autistic females had more extensive cortical differences than autistic males. These differences involved multiple functional networks, and were mainly characterized by thicker cortex at ~3 years of age and faster cortical thinning in autistic females. Cortical regions in which autistic alterations were different between the sexes significantly overlapped with regions that differed by sex in neurotypical development. Autistic females and males demonstrated some shared differences in cortical thickness and rate of cortical thinning across childhood relative to their nonautistic peers, however these areas were relatively small compared to the widespread differences observed across the sexes. These results support evidence of sex-specific neurobiology in autism and suggest that processes that regulate sex differentiation in the neurotypical brain contribute to sex differences in the etiology of autism.

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3. Bick NA, Redfern MS, Jennings JR, Eack SM, Iverson JM, Cham R. Attention and sensory integration for gait in young adults with autism spectrum disorder. Gait Posture;2024 (May 3);112:74-80.

INTRODUCTION: Altered sensorimotor function is a common feature of autism spectrum disorder (ASD). As a result, spatiotemporal walking patterns are typically affected. Attentional processes relevant for locomotion may be altered in people with ASD. This study assessed the extent to which gait alterations observed under sensory challenging conditions are due to reduced attention-related processes in young adults with ASD. METHODS: Twenty-one adults with ASD and 21 age- and sex-matched neurotypical participants walked at a self-selected pace on a 10-m walkway under 12 sensory/attention conditions: hard or carpet flooring; well-lit or dim lighting; no attention task, an auditory choice-reaction time information-processing task, or a simple reaction time information-processing task. Gait data were collected with a 12-marker motion capture set and a trunk accelerometer. Spatiotemporal characteristics of gait were derived and compared between the two groups across gait conditions. RESULTS: Floor/light conditions impacted gait speed, average step length, average stance time, average step width, and step width variability similarly in both groups (p<0.05). The information processing tasks impacted average step length, gait speed, and step length variability (p<0.05). Group differences were found in step length metrics: the ASD group had decreased average step length during the simple reaction time information-processing task and neurotypical participants did not (p=0.039); the ASD group had increased variability on carpet compared to hard floor and the neurotypical group had no change in variability due to floor (p=0.015). SIGNIFICANCE: These results suggest that attentional set-shifting and somatosensory inputs may play an important role in ASD-related gait alterations. Step length metrics appear to be sensitive to group differences between ASD and neurotypical adults during sensory challenging conditions.

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4. Cai CQ, Lavan N, Chen SHY, Wang CZX, Ozturk OC, Chiu RMY, Gilbert SJ, White SJ, Scott SK. Mapping the differential impact of spontaneous and conversational laughter on brain and mind: an fMRI study in autism. Cereb Cortex;2024 (May 2);34(5)

Spontaneous and conversational laughter are important socio-emotional communicative signals. Neuroimaging findings suggest that non-autistic people engage in mentalizing to understand the meaning behind conversational laughter. Autistic people may thus face specific challenges in processing conversational laughter, due to their mentalizing difficulties. Using fMRI, we explored neural differences during implicit processing of these two types of laughter. Autistic and non-autistic adults passively listened to funny words, followed by spontaneous laughter, conversational laughter, or noise-vocoded vocalizations. Behaviourally, words plus spontaneous laughter were rated as funnier than words plus conversational laughter, and the groups did not differ. However, neuroimaging results showed that non-autistic adults exhibited greater medial prefrontal cortex activation while listening to words plus conversational laughter, than words plus genuine laughter, while autistic adults showed no difference in medial prefrontal cortex activity between these two laughter types. Our findings suggest a crucial role for the medial prefrontal cortex in understanding socio-emotionally ambiguous laughter via mentalizing. Our study also highlights the possibility that autistic people may face challenges in understanding the essence of the laughter we frequently encounter in everyday life, especially in processing conversational laughter that carries complex meaning and social ambiguity, potentially leading to social vulnerability. Therefore, we advocate for clearer communication with autistic people.

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5. de Vries B. Autism and the Case Against Job Interviews. Neuroethics;2024;17(2):25.

Unemployment rates among autistic people are high even among those with low-support needs. While a variety of measures is needed to address this problem, this article defends one that has not been defended in detail and that has profound implications for contemporary hiring practices. Building on empirical research showing that job interviews are a major contributor to autistic unemployment, it argues that such interviews should be abolished in many cases for autistic and non-autistic people alike.

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6. Dionne O, Abolghasemi A, Corbin F, Çaku A. Implication of the endocannabidiome and metabolic pathways in fragile X syndrome pathophysiology. Psychiatry Res;2024 (May 16);337:115962.

Fragile X Syndrome (FXS) results from the silencing of the FMR1 gene and is the most prevalent inherited cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorder. It is well established that Fragile X individuals are subjected to a wide array of comorbidities, ranging from cognitive, behavioural, and medical origin. Furthermore, recent studies have also described metabolic impairments in FXS individuals. However, the molecular mechanisms linking FMRP deficiency to improper metabolism are still misunderstood. The endocannabinoidome (eCBome) is a lipid-based signalling system that regulates several functions across the body, ranging from cognition, behaviour and metabolism. Alterations in the eCBome have been described in FXS animal models and linked to neuronal hyperexcitability, a core deficit of the disease. However, the potential link between dysregulation of the eCBome and altered metabolism observed in FXS remains unexplored. As such, this review aims to overcome this issue by describing the most recent finding related to eCBome and metabolic dysfunctions in the context of FXS. A better comprehension of this association will help deepen our understanding of FXS pathophysiology and pave the way for future therapeutic interventions.

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7. English MCW, Maybery MT, Visser TAW. Autistic traits specific to communication ability are associated with performance on a Mooney face detection task. Atten Percept Psychophys;2024 (May 16)

Difficulties in global face processing have been associated with autism. However, autism is heterogenous, and it is not known which dimensions of autistic traits are implicated in face-processing difficulties. To address this gap in knowledge, we conducted two experiments to examine how identification of Mooney face stimuli (stylized, black-and-white images of faces without details) related to the six subscales of the Comprehensive Autistic Trait Inventory in young adults. In Experiment 1, regression analyses indicated that participants with poorer communication skills had lower task sensitivity when discriminating between face-present and face-absent images, whilst other autistic traits had no unique predictive value. Experiment 2 replicated these findings and additionally showed that autistic traits were linked to a reduced face inversion effect. Taken together, these results indicate autistic traits, especially communication difficulties, are associated with reduced configural processing of face stimuli. It follows that both reduced sensitivity for identifying upright faces amongst similar-looking distractors and reduced susceptibility to face inversion effects may be linked to relatively decreased reliance on configural processing of faces in autism. This study also reinforces the need to consider the different facets of autism independently.

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8. González-Madrid E, Rangel-Ramírez MA, Opazo MC, Méndez L, Bohmwald K, Bueno SM, González PA, Kalergis AM, Riedel CA. Gestational hypothyroxinemia induces ASD-like phenotypes in behavior, proinflammatory markers, and glutamatergic protein expression in mouse offspring of both sexes. Front Endocrinol (Lausanne);2024;15:1381180.

BACKGROUND: The prevalence of autism spectrum disorder (ASD) has significantly risen in the past three decades, prompting researchers to explore the potential contributions of environmental factors during pregnancy to ASD development. One such factor of interest is gestational hypothyroxinemia (HTX), a frequent condition in pregnancy associated with cognitive impairments in the offspring. While retrospective human studies have linked gestational HTX to autistic traits, the cellular and molecular mechanisms underlying the development of ASD-like phenotypes remain poorly understood. This study used a mouse model of gestational HTX to evaluate ASD-like phenotypes in the offspring. METHODS: To induce gestational HTX, pregnant mice were treated with 2-mercapto-1-methylimidazole (MMI), a thyroid hormones synthesis inhibitor, in the tap-drinking water from embryonic days (E) 10 to E14. A separate group received MMI along with a daily subcutaneous injection of T(4), while the control group received regular tap water during the entire pregnancy. Female and male offspring underwent assessments for repetitive, anxious, and social behaviors from postnatal day (P) 55 to P64. On P65, mice were euthanized for the evaluation of ASD-related inflammatory markers in blood, spleen, and specific brain regions. Additionally, the expression of glutamatergic proteins (NLGN3 and HOMER1) was analyzed in the prefrontal cortex and hippocampus. RESULTS: The HTX-offspring exhibited anxious-like behavior, a subordinate state, and impaired social interactions. Subsequently, both female and male HTX-offspring displayed elevated proinflammatory cytokines in blood, including IL-1β, IL-6, IL-17A, and TNF-α, while only males showed reduced levels of IL-10. The spleen of HTX-offspring of both sexes showed increased Th17/Treg ratio and M1-like macrophages. In the prefrontal cortex and hippocampus of male HTX-offspring, elevated levels of IL-17A and reduced IL-10 were observed, accompanied by increased expression of hippocampal NLGN3 and HOMER1. All these observations were compared to those observed in the Control-offspring. Notably, the supplementation with T(4) during the MMI treatment prevents the development of the observed phenotypes. Correlation analysis revealed an association between maternal T(4) levels and specific ASD-like outcomes. DISCUSSION: This study validates human observations, demonstrating for the first time that gestational HTX induces ASD-like phenotypes in the offspring, highlighting the need of monitoring thyroid function during pregnancy.

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9. Hatipoğlu Özcan G, Özer DF, Pınar S. Effects of Motor Intervention Program on Academic Skills, Motor Skills and Social Skills in Children with Autism Spectrum Disorder. J Autism Dev Disord;2024 (May 16)

The aim of this study was to examine the effect of motor intervention program (MIP) on autistic index, pre-academic skills, motor skills and social skills of children with Autism Spectrum Disorder (ASD). The research group consisted of a total of 34 participants between the ages of 3-6, 17 in the control group (CG) and 17 in the experimental group (EG). EG participated in the motor intervention program for 60 min a day, 2 days a week for 12 weeks. In the study, the Gilliam Autistic Disorder Rating Scale-2-Turkish Version (GARS-2 TV), Peabody Motor Development Scale-2 (PMDS-2), Pre-Academic Skills Evaluation Form (PASAF) and Social Skills Evaluation System Preschool Teacher Form (SSRS-PTF) were used. The increase in all subtests and total scores of PASAF and posttest scores obtained from PMDS-2 were found to be higher in favor of the experimental group (p < 0.05). The decrease in the stereotype and social interaction scores of GARS-2 TV and the change in the cooperation, self-control and externalization sub-dimensions of SSRS-PTF were found to be statistically significant in favor of the EG group (p < 0.05). In conclusion, it was found that MIP applied to autistic children was effective on the development of motor skills, academic skills and social skills and decreased the level of autistic index. This result shows that MIP is an effective practice that provides a favorable environment for autistic young children to develop multiple skills.

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10. Johnson NL, Bekhet AK, Zint E, Wang J, Pena S, Van Hecke A, Garnier-Villarreal M, Ng A. Correlations of Physical and Psychological Health in Parents of Individuals With Autism Spectrum Disorder. West J Nurs Res;2024 (May 16):1939459241253221.

BACKGROUND: Individuals with autism spectrum disorder (ASD) have social communication difficulties and restricted, repetitive, and/or sensory behaviors or interests. The prevalence of ASD is now 1 in 36 individuals. Parents of individuals with ASD face challenges that can affect their physical and psychological well-being. OBJECTIVE: With the long-term goal to tailor an exercise program, the purpose of this study was 2-fold: (1) establish the baseline physical and mental health of parents of individuals with ASD and (2) estimate the relationship of physiologic variables with psychological variables of health for parents of individuals with ASD. METHODS: This descriptive, cross-sectional study (N = 44) explored physical health measures and the correlation between physical and psychological health, using measures of anxiety, stress, parenting depression, and positive thinking for parents who care for individuals with ASD. RESULTS: The common characteristics that these parents shared was high body fat and low physical activity. Body fat was negatively correlated to total step count (r = -0.428, P < .05), grip strength (r = -0.319, P < .5), and total distance walked in the week (r = -0.661, P < .01), and positively correlated to 5-times sit to stand (r = 0.337, P < .05). Low activity correlated to increased parenting stress of advocating for child's needs (r = -0.310, P = .043). CONCLUSIONS: Understanding relationships between physical and psychological health informs effective interventions and support systems for parents. Parents need supports to be able to prioritize exercise. Future studies should include a larger sample to verify these effects.

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11. Kanlayaprasit S, Saeliw T, Thongkorn S, Panjabud P, Kasitipradit K, Lertpeerapan P, Songsritaya K, Yuwattana W, Jantheang T, Jindatip D, Hu VW, Kikkawa T, Osumi N, Sarachana T. Sex-specific impacts of prenatal bisphenol A exposure on genes associated with cortical development, social behaviors, and autism in the offspring’s prefrontal cortex. Biol Sex Differ;2024 (May 15);15(1):40.

BACKGROUND: Recent studies have shown that prenatal BPA exposure altered the transcriptome profiles of autism-related genes in the offspring’s hippocampus, disrupting hippocampal neuritogenesis and causing male-specific deficits in learning. However, the sex differences in the effects of prenatal BPA exposure on the developing prefrontal cortex, which is another brain region highly implicated in autism spectrum disorder (ASD), have not been investigated. METHODS: We obtained transcriptome data from RNA sequencing analysis of the prefrontal cortex of male and female rat pups prenatally exposed to BPA or control and reanalyzed. BPA-responsive genes associated with cortical development and social behaviors were selected for confirmation by qRT-PCR analysis. Neuritogenesis of primary cells from the prefrontal cortex of pups prenatally exposed to BPA or control was examined. The social behaviors of the pups were assessed using the two-trial and three-chamber tests. The male-specific impact of the downregulation of a selected BPA-responsive gene (i.e., Sema5a) on cortical development in vivo was interrogated using siRNA-mediated knockdown by an in utero electroporation technique. RESULTS: Genes disrupted by prenatal BPA exposure were associated with ASD and showed sex-specific dysregulation. Sema5a and Slc9a9, which were involved in neuritogenesis and social behaviors, were downregulated only in males, while Anxa2 and Junb, which were also linked to neuritogenesis and social behaviors, were suppressed only in females. Neuritogenesis was increased in males and showed a strong inverse correlation with Sema5a and Slc9a9 expression levels, whereas, in the females, neuritogenesis was decreased and correlated with Anxa2 and Junb levels. The siRNA-mediated knockdown of Sema5a in males also impaired cortical development in utero. Consistent with Anxa2 and Junb downregulations, deficits in social novelty were observed only in female offspring but not in males. CONCLUSION: This is the first study to show that prenatal BPA exposure dysregulated the expression of ASD-related genes and functions, including cortical neuritogenesis and development and social behaviors, in a sex-dependent manner. Our findings suggest that, besides the hippocampus, BPA could also exert its adverse effects through sex-specific molecular mechanisms in the offspring’s prefrontal cortex, which in turn would lead to sex differences in ASD-related neuropathology and clinical manifestations, which deserves further investigation.

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12. Kim JH, Koh IG, Lee H, Lee GH, Song DY, Kim SW, Kim Y, Han JH, Bong G, Lee J, Byun H, Son JH, Kim YR, Lee Y, Kim JJ, Park JW, Kim IB, Choi JK, Jang JH, Trost B, Lee J, Kim E, Yoo HJ, An JY. Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder. Psychiatry Clin Neurosci;2024 (May 15)

AIM: Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes. METHODS: We analyzed WGS data of 634 ASD families and performed genome-wide evaluation for 12,929 STR loci. We found rare STR expansions that exceeded normal repeat lengths in autism cases compared to unaffected controls. By integrating single cell RNA and ATAC sequencing datasets of human postmortem brains, we prioritized STR loci in genes specifically expressed in cortical development stages. A deep learning method was used to predict functionality of ASD-associated STR loci. RESULTS: In ASD cases, rare STR expansions predominantly occurred in early cortical layer-specific genes involved in neurodevelopment, highlighting the cellular specificity of STR-associated genes in ASD risk. Leveraging deep learning prediction models, we demonstrated that these STR expansions disrupted the regulatory activity of enhancers and promoters, suggesting a potential mechanism through which they contribute to ASD pathogenesis. We found that individuals with ASD-associated STR expansions exhibited more severe ASD phenotypes and diminished adaptability compared to non-carriers. CONCLUSION: Short tandem repeat expansions in cortical layer-specific genes are associated with ASD and could potentially be a risk genetic factor for ASD. Our study is the first to show evidence of STR expansion associated with ASD in an under-investigated population.

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13. Kim YJ, Kim K, Lee Y, Min HW, Ko YH, Lee BR, Hur KH, Kim SK, Lee SY, Jang CG. The mutated cytoplasmic fragile X mental retardation 1 (FMR1)-interacting protein 2 (CYFIP2 S968F) regulates cocaine-induced reward behaviour and plasticity in the nucleus accumbens. Br J Pharmacol;2024 (May 15)

BACKGROUND AND PURPOSE: Cytoplasmic fragile X mental retardation 1 (FMR1)-interacting protein 2 (CYFIP2), as a component of the Wiskott-Aldrich syndrome protein family verprolin-homologous protein (WAVE) regulatory complex, is involved in actin polymerization, contributing to neuronal development and structural plasticity. Mutating serine-968 to phenylalanine (S968F) in CYFIP2 causes an altered cocaine response in mice. The neuronal mechanisms underlying this response remain unknown. EXPERIMENTAL APPROACH: We performed cocaine reward-related behavioural tests and examined changes in synaptic protein phenotypes and neuronal morphology in the nucleus accumbens (NAc), using CYFIP2 S968F knock-in mice to investigate the role of CYFIP2 in regulating cocaine reward. KEY RESULTS: CYFIP2 S968F mutation attenuated cocaine-induced behavioural sensitization and conditioned place preference. Cocaine-induced c-Fos was not observed in the NAc of CYFIP2 S968F knock-in mice. However, c-Fos induction was still evident in the medial prefrontal cortex (mPFC). CYFIP2 S968F mutation altered cocaine-associated CYFIP2 signalling, glutamatergic protein expression and synaptic density in the NAc following cocaine exposure. To further determine the role of CYFIP2 in NAc neuronal activity and the mPFC projecting to the NAc activity-mediating reward response, we used optogenetic tools to stimulate the NAc or mPFC-NAc pathway and observed that optogenetic activation of the NAc or mPFC-NAc pathway induced reward-related behaviours. This effect was not observed in the S968F mutation in CYFIP2. CONCLUSION AND IMPLICATIONS: These results suggest that CYFIP2 plays a role in controlling cocaine-mediated neuronal function and structural plasticity in the NAc, and that CYFIP2 could serve as a target for regulating cocaine reward.

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14. Kosidou K, Karlsson H, Arver S, Bhasin S, Dalman C, Gardner RM. Maternal Steroid Hormone Levels in Early Pregnancy and Autism in the Offspring: A Population-Based, Nested Case-Control Study. Biol Psychiatry;2024 (May 14)

BACKGROUND: A role for prenatal steroid hormones in the etiology of autism has been proposed, but evidence is conflicting. METHODS: Here, we examined serum levels of maternal estradiol, testosterone, 17-hydroxyprogesterone (OHP), and cortisol from the first trimester of gestation (mean = 10.1 weeks) in relation to the odds of diagnosed autism with and without co-occurring intellectual disability (ID) in the offspring (n = 118 autism with ID, n = 249 autism without ID, n = 477 control). Levels of maternal hormones were measured using highly sensitive liquid chromatography tandem mass spectrometry, standardized according to gestational timing of sample collection, and analyzed with restricted cubic spline logistic regression models adjusting for child’s sex and maternal health, demographic, and socioeconomic factors. RESULTS: We observed significant nonlinear associations between maternal estradiol, 17-OHP, and cortisol with autism, which varied with the presence of co-occurring ID. Compared to mean levels, lower levels of estradiol were associated with higher odds of autism with ID (odds ratio for concentrations 1 SD below the mean = 1.66; 95% CI, 1.24-2.11), while higher cortisol levels were associated with lower odds (odds ratio for 1 SD above the mean = 0.55; 95% CI, 0.36-0.88). In contrast, higher 17-OHP was associated with increased odds of autism without ID (odds ratio for 1 SD above the mean = 1.49; 95% CI, 1.11-1.99). We observed no evidence for interaction with sex of the child. CONCLUSIONS: These findings support the notion that the maternal steroid hormonal environment in early pregnancy may contribute to autism, but also emphasize the complex relationship between early-life steroid exposure and autism.

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15. Morel C, Paoli J, Camonin C, Marchal N, Grova N, Schroeder H. Comparison of predictive validity of two Autism Spectrum Disorder Rat Models: Behavioural investigations. Neurotoxicology;2024 (May 16)

The valproic acid model has been shown to reproduce ASD-like behaviours observed in patients and is now widely validated for construct, face, and predictivity as ASD model in rat. The literature agrees on using a single exposition to 500mg/kg of VPA at gestational day 12 to induce ASD phenotype with the intraperitoneal route being the most commonly used. However, some studies validated this model with repeated exposure by using oral route. The way of administration may be of great importance in the induction of the ASD phenotype and a comparison is greatly required. We compared two ASD models, one induced by a unique IP injection of 500mg/kg of body weight at GD12 and the other one by repeated PO administration of 500mg/kg of body weight/day between GD11 and GD13. The behavioural phenotypes of the offspring were assessed for the core signs of ASD (impaired social behaviour, stereotypical/repetitive behaviours, sensory/communication deficits) as well as anxiety as comorbidity, at developmental and juvenile stages in both sexes. The VPA IP model induced a more literature-compliant ASD phenotype than the PO one. These results confirmed that the mode of administration as well as the window of VPA exposure are key factors in the ASD-induction phenotype. Interestingly, the effects of VPA administration were similar at the developmental stage between both sexes and then tended to differ later in life.

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16. Murthy S, Parker Harris S, Hsieh K. Information needs of caregivers of adults with intellectual and/or developmental disabilities in India. J Intellect Disabil;2024 (May 15):17446295241254933.

Many families of adults with intellectual and/or developmental disabilities in India experience difficulty in accessing services/supports, due to lack of awareness/knowledge of disability rights/laws and available services, and in accessing the services. There remains insufficient research on the information needs of these caregivers and on designing interventions that aim to increase their awareness/knowledge about human rights and supports/services. A strengths-based mixed methods needs assessment was conducted to understand the information needs of these family caregivers. Results showed that caregivers ≥50 years had significantly higher information needs than younger caregivers. Specifically, caregivers with no proficiency in English needed more information on the available services for the care recipients (n = 100). Qualitative results showed that very few caregivers had any awareness or access to information on human rights, disability-related laws/policies or available supports/services (n = 15). Study findings underscore the government’s role in improving awareness-raising initiatives and imparting the information in multiple Indian languages.

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17. Nix K, Siegel A, Smith JV, Wells EM, Atmore K. Individualized Care Delivery for Children With Autism and Related Disabilities Undergoing Overnight Video Electroencephalography (EEG): One Hospital’s Experience With a Coordinated Team Approach. J Child Neurol;2024 (May 15):8830738241252849.

Background and Purpose: Children with developmental disabilities have increased risk of epilepsy and need for overnight video electroencephalographic (EEG) monitoring. However, video EEGs have historically been considered difficult to complete for this population. An autism support service at a pediatric tertiary care hospital implemented a coordinated team approach to help children with developmental disability tolerate overnight video EEGs. The project included completion of a caregiver-report preprocedure questionnaire that then was shared with the multidisciplinary team and used to create individualized care plans. The current study aims to describe rates of video EEG completion and need for lead placement under general anesthesia among children with autism and related disabilities who received these supports. Methods: Rates of video EEG completion and general anesthesia use were analyzed for children referred to the support service between April 2019 and November 2021. Results: A total of 182 children with developmental disability (mean age ( )= 10.3 years, 54.9% diagnosed with autism) met inclusion criteria. 92.9% (n = 169) of children successfully completed EEG (leads on ≥12 hours). Only 19.2% (n = 35) required general anesthesia for video EEG lead placement. The majority (80.2%) of parents (n = 146) completed the preprocedure questionnaire. Video EEG outcomes did not differ based on completion of the questionnaire. Parent-reported challenges with communication and cooperation were associated with shorter video EEG duration and greater use of general anesthesia. Conclusions: These findings suggest that most children with developmental disability can complete video EEG with sufficient support. Preprocedure planning can identify children who would benefit from additional accommodations. Further research is necessary to clarify which supports are most helpful.

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18. Peng X, Xue Y, Dong H, Ma C, Jia F, Du L. A study of the effects of screen exposure on the neuropsychological development in children with autism spectrum disorders based on ScreenQ. BMC Pediatr;2024 (May 16);24(1):340.

PURPOSE: To investigate the relationship between multi-dimensional aspects of screen exposure and autistic symptoms, as well as neuropsychological development in children with ASD. METHODS: We compared the ScreenQ and Griffiths Development Scales-Chinese Language Edition (GDS-C) of 636 ASD children (40.79 ± 11.45 months) and 43 typically developing (TD) children (42.44 ± 9.61 months). Then, we analyzed the correlations between ScreenQ and Childhood Autism Rating Scale (CARS), and GDS-C. We further used linear regression model to analyze the risk factors associated with high CARS total scores and low development quotients (DQs) in children with ASD. RESULTS: The CARS of children with ASD was positively correlated with the ScreenQ total scores and « access, frequency, co-viewing » items of ScreenQ. The personal social skills DQ was negatively correlated with the « access, frequency, content, co-viewing and total scores » of ScreenQ. The hearing-speech DQ was negatively correlated with the « frequency, content, co-viewing and total scores » of ScreenQ. The eye-hand coordination DQ was negatively correlated with the « frequency and total scores » of ScreenQ. The performance DQ was negatively correlated with the « frequency » item of ScreenQ. CONCLUSION: ScreenQ can be used in the study of screen exposure in children with ASD. The higher the ScreenQ scores, the more severe the autistic symptoms tend to be, and the more delayed the development of children with ASD in the domains of personal-social, hearing-speech and eye-hand coordination. In addition, « frequency » has the greatest impact on the domains of personal social skills, hearing-speech, eye-hand coordination and performance of children with ASD.

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19. Phan J, Calvo DC, Nair D, Jain S, Montagne T, Dietsche S, Blanchard K, Treadwell S, Adams J, Krajmalnik-Brown R. Precision synbiotics increase gut microbiome diversity and improve gastrointestinal symptoms in a pilot open-label study for autism spectrum disorder. mSystems;2024 (May 16);9(5):e0050324.

The efficacy of prebiotics and probiotics (synbiotics when combined) to improve symptoms associated with autism spectrum disorder (ASD) has shown considerable inter-study variation, likely due to the complex, heterogeneous nature of the disorder and its associated behavioral, developmental, and gastrointestinal symptoms. Here, we present a precision synbiotic supplementation study in 296 children and adults diagnosed with ASD versus 123 age-matched neurotypical controls. One hundred seventy ASD participants completed the study. Baseline and post-synbiotic assessment of ASD and gastrointestinal (GI) symptoms and deep metagenomic sequencing were performed. Within the ASD cohort, there were significant differences in microbes between subpopulations based on the social responsiveness scale (SRS2) survey (Prevotella spp., Bacteroides, Fusicatenibacter, and others) and gluten and dairy-free diets (Bifidobacterium spp., Lactococcus, Streptococcus spp., and others). At the baseline, the ASD cohort maintained a lower taxonomic alpha diversity and significant differences in taxonomic composition, metabolic pathways, and gene families, with a greater proportion of potential pathogens, including Shigella, Klebsiella, and Clostridium, and lower proportions of beneficial microbes, including Faecalibacterium compared to controls. Following the 3-month synbiotic supplementation, the ASD cohort showed increased taxonomic alpha diversity, shifts in taxonomy and metabolic pathway potential, and improvements in some ASD-related symptoms, including a significant reduction in GI discomfort and overall improved language, comprehension, cognition, thinking, and speech. However, the open-label study design may include some placebo effects. In summary, we found that precision synbiotics modulated the gut microbiome and could be used as supplementation to improve gastrointestinal and ASD-related symptoms. IMPORTANCE: Autism spectrum disorder (ASD) is prevalent in 1 out of 36 children in the United States and contributes to health, financial, and psychological burdens. Attempts to identify a gut microbiome signature of ASD have produced varied results. The limited pre-clinical and clinical population sizes have hampered the success of these trials. To understand the microbiome associated with ASD, we employed whole metagenomic shotgun sequencing to classify microbial composition and genetic functional potential. Despite being one of the most extensive ASD post-synbiotic assessment studies, the results highlight the complexity of performing such a case-control supplementation study in this population and the potential for a future therapeutic approach in ASD.

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20. Richard Williams N, Hurt-Thaut C, Thaut MH. Factors Influencing Music Therapists’ Retention of Clinical Hours with Autistic Clients over Telehealth During the COVID-19 Pandemic. J Music Ther;2024 (May 16);61(2):168-192.

The 2019 coronavirus disease pandemic influenced music therapists to migrate services to online platforms, though some lost clinical hours during the pandemic when telehealth was not a viable option. This survey study aimed to ascertain factors that helped music-based therapists to continue serving autistic clients over telehealth during the pandemic. We surveyed 193 accredited music therapists located mainly in Canada and the US. In addition to gathering data on general perceptions of telehealth music therapy and Neurologic Music Therapy (NMT), one-way ANOVAs were applied to determine differences in percent-change loss of clinical hours for music therapists: (1) working in different employment settings; (2) serving children, youth, adults, or a mixture of ages; and (3) practicing NMT or not. The general perception of telehealth music therapy was positive, and NMTs believed that the clear protocols and transformation design model were helpful to them in adapting services to telehealth. There were no significant differences in percent-change of clinical hours among music therapists in different employment settings or serving different client age groups. Music therapists who said they practiced within the NMT treatment model lost a significantly lower percentage of clinical hours with autistic clients than those who did not practice NMT. Possible reasons for this result and the need for further research are discussed.

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21. Riis K, Samulski B, Neely KA, Laverdure P. Physical Activity for Anxiety for Autistic People: A Systematic Review. J Autism Dev Disord;2024 (May 16)

Clinical anxiety is a common comorbidity in autistic people. Due to the prevalence of anxiety in the autism population and the adverse effects it causes, there is a critical need to develop effective interventions which address anxiety symptoms for autistic people. Therefore, the purpose of this systematic review was to examine the effectiveness of the use of physical activity as an intervention to reduce anxiety in autistic people. Three databases PubMed, PsychInfo, and Cochrane RCTs, were searched utilizing key terms. PRISMA systematic search procedures identified 44 studies meeting predetermined inclusion criteria. Participant characteristics, the type of physical activity performed, the nature of the physical activity program/delivery, anxiety-related outcomes, and research methodology was evaluated for each study. Each paper included was appraised and scored for risk of bias using Cochrane Handbook for Systematic Reviews of Interventions risk of bias tool. Titles and abstracts of 44 articles were reviewed and 8 articles met inclusion criteria which evaluated interventions. Evidence from 8 studies suggests that yoga, a community-based football program, an app-assisted walking program, group exercise programs, and horseback riding interventions reduced anxiety for autistic people. The studies included in this systematic review provide strong-to-moderate evidence that physical activity can reduce anxiety for autistic children and adults. However, additional research is needed to identify which mode of physical activity is most beneficial for anxiety reduction. Further, future research should evaluate frequency, duration, and intensity and their effects on anxiety for autistic people.

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22. Sakaguchi K, Tawata S. Giftedness and atypical sexual differentiation: enhanced perceptual functioning through estrogen deficiency instead of androgen excess. Front Endocrinol (Lausanne);2024;15:1343759.

Syndromic autism spectrum conditions (ASC), such as Klinefelter syndrome, also manifest hypogonadism. Compared to the popular Extreme Male Brain theory, the Enhanced Perceptual Functioning model explains the connection between ASC, savant traits, and giftedness more seamlessly, and their co-emergence with atypical sexual differentiation. Overexcitability of primary sensory inputs generates a relative enhancement of local to global processing of stimuli, hindering the abstraction of communication signals, in contrast to the extraordinary local information processing skills in some individuals. Weaker inhibitory function through gamma-aminobutyric acid type A (GABA(A)) receptors and the atypicality of synapse formation lead to this difference, and the formation of unique neural circuits that process external information. Additionally, deficiency in monitoring inner sensory information leads to alexithymia (inability to distinguish one’s own emotions), which can be caused by hypoactivity of estrogen and oxytocin in the interoceptive neural circuits, comprising the anterior insular and cingulate gyri. These areas are also part of the Salience Network, which switches between the Central Executive Network for external tasks and the Default Mode Network for self-referential mind wandering. Exploring the possibility that estrogen deficiency since early development interrupts GABA shift, causing sensory processing atypicality, it helps to evaluate the co-occurrence of ASC with attention deficit hyperactivity disorder, dyslexia, and schizophrenia based on phenotypic and physiological bases. It also provides clues for understanding the common underpinnings of these neurodevelopmental disorders and gifted populations.

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23. Schall U, Fulham R, Günther M, Bergmann J, Thienel R, Ortmann J, Wall NG, Gómez Álvarez P, Youlden AM. Pre-attentive and Attentive Auditory Event-related Potentials in Children With Attention-Deficit Hyperactivity Disorder and Autism. Clin EEG Neurosci;2024 (May 16):15500594241255499.

Abnormalities in auditory processing are believed to play a major role in autism and attention-deficit hyperactivity disorder (ADHD). Both conditions often co-occur in children, causing difficulties in deciding the most promising intervention. Event-related potentials (ERPs) have been investigated and are showing promise to act as potential biomarkers for both conditions. This study investigated mismatch negativity (MMN) using a passive listening task and P3b in an active auditory go/no-go discrimination task. Recordings were available from 103 children (24 females): 35 with ADHD, 27 autistic, 15 autistic children with co-occurring ADHD, and 26 neurotypical (NT) children. The age range considered was between 4 and 17 years, but varied between groups. The results revealed increases in the MMN and P3b amplitudes with age. Older children with ADHD exhibited smaller P3b amplitudes, while younger autistic children showed reduced MMN amplitudes in response to phoneme changes compared to their NT counterparts. Notably, children diagnosed with autism and ADHD did not follow this pattern; instead, they exhibited more similarities to NT children. The reduced amplitudes of phonetically elicited MMN in children with autism and reduced P3b in children with ADHD suggest that the two respective ERPs can act as potential biomarkers for each condition. However, optimisation and standardisation of the testing protocol, as well as longitudinal studies are required in order to translate these findings into clinical practice.

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24. Schmilovich Z, Bourque VR, Douard E, Huguet G, Poulain C, Ross JP, Alipour P, Castonguay C, Younis N, Jean-Louis M, Saci Z, Pausova Z, Paus T, Schuman G, Porteous D, Davies G, Redmond P, Harris SE, Deary IJ, Whalley H, Hayward C, Dion PA, Jacquemont S, Rouleau GA. Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability. Front Psychiatry;2024;15:1369767.

INTRODUCTION: Rare copy number variants (CNVs) and polygenic risk for intelligence (PRS-IQ) both confer susceptibility for autism spectrum disorder (ASD) but have opposing effects on cognitive ability. The field has struggled to disentangle the effects of these two classes of genomic variants on cognitive ability from their effects on ASD susceptibility, in part because previous studies did not include controls with cognitive measures. We aim to investigate the impact of these genomic variants on ASD risk while adjusting for their known effects on cognitive ability. METHODS: In a cohort of 8,426 subjects with ASD and 169,804 controls with cognitive assessments, we found that rare coding CNVs and PRS-IQ increased ASD risk, even after adjusting for their effects on cognitive ability. RESULTS: Bottom decile PRS-IQ and CNVs both decreased cognitive ability but had opposing effects on ASD risk. Models combining both classes of variants showed that the effects of rare CNVs and PRS-IQ on ASD risk and cognitive ability were largely additive, further suggesting that susceptibility for ASD is conferred independently from its effects on cognitive ability. Despite imparting mostly additive effects on ASD risk, rare CNVs and PRS-IQ showed opposing effects on core and associated features and developmental history among subjects with ASD. DISCUSSION: Our findings suggest that cognitive ability itself may not be the factor driving the underlying liability for ASD conferred by these two classes of genomic variants. In other words, ASD risk and cognitive ability may be two distinct manifestations of CNVs and PRS-IQ. This study also highlights the challenge of understanding how genetic risk for ASD maps onto its dimensional traits.

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25. Shao W, Su Y, Liu J, Liu YL, Zhao J, Fan X. Understanding the link between different types of maternal diabetes and the onset of autism spectrum disorders. Diabetes Metab;2024 (May 16):101543.

Autism spectrum disorders (ASD) encompass a collection of neurodevelopmental disorders that exhibit impaired social interactions and repetitive stereotypic behaviors. Although the exact cause of these disorders remains unknown, it is widely accepted that both genetic and environmental factors contribute to their onset and progression. Recent studies have highlighted the potential negative impact of maternal diabetes on embryonic neurodevelopment, suggesting that intrauterine hyperglycemia could pose an additional risk to early brain development and contribute to the development of ASD. This paper presents a comprehensive analysis of the current research on the relationship between various forms of maternal diabetes, such as type 1 diabetes mellitus, type 2 diabetes mellitus, and gestational diabetes mellitus, and the likelihood of ASD in offspring. The study elucidates the potential mechanisms through which maternal hyperglycemia affects fetal development, involving metabolic hormones, immune dysregulation, heightened oxidative stress, and epigenetic alterations. The findings of this review offer valuable insights for potential preventive measures and evidence-based interventions targeting ASD.

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26. Shekhar N, Thakur AK. Evaluation of the protective effect of Capric acid on behavioral and biochemical alterations in valproic acid-induced model of autism. Neurochem Int;2024 (May 13):105767.

AIM AND OBJECTIVE: The purpose of the study is to determine the neuroprotective effect of capric acid on sodium valproate-induced model of autism. METHODS: In this study, the effect of CA was observed in animals with single dose of valproic acid (600mg/kg, i.p.) where the disease condition was confirmed by developmental impairment in pups. Behavioral tests that assess anxiety, depression, stereotypical and repetitive behavior, social interaction, learning and memory, and other confounding variables were performed. Subsequently, oxidative stress parameters, pro-inflammatory cytokine levels and mitochondrial complex activities in the selected brain regions were analyzed. RESULTS: Valproic acid successfully produced autism-like symptoms from post-natal day 7 and also demonstrates impairment in social behavior, learning and memory, and anxiety and depression. Valproic acid was found to produce oxidative stress and neuro-inflammation in the hippocampus, prefrontal cortex, and cerebellum. Treatment with capric acid produced a positive effect on the alterations with maximum effects evident at 400 mg/kg, p.o. through amelioration of behavioral as well as biochemical changes. CONCLUSION: The current study concluded that capric acid could act as a likely candidate for the treatment and management of autism via significant modulation of neurobehavioral parameters, oxidative stress, mitochondrial dysfunction and inflammatory markers.

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27. Srivastava S, Yang F, Prohl AK, Davis PE, Capal JK, Filip-Dhima R, Bebin EM, Krueger DA, Northrup H, Wu JY, Warfield SK, Sahin M, Zhang B. Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures. J Child Neurol;2024 (May 15):8830738241248685.

Background: Abnormalities in white matter development may influence development of autism spectrum disorder in tuberous sclerosis complex (TSC). Our goals for this study were as follows: (1) use data from a longitudinal neuroimaging study of tuberous sclerosis complex (TACERN) to develop optimized linear mixed effects models for analyzing longitudinal, repeated diffusion tensor imaging metrics (fractional anisotropy, mean diffusivity) pertaining to select white matter tracts, in relation to positive Autism Diagnostic Observation Schedule-Second Edition classification at 36 months, and (2) perform an exploratory analysis using optimized models applied to all white matter tracts from these data. Methods: Eligible participants (3-12 months) underwent brain magnetic resonance imaging (MRI) at repeated time points from ages 3 to 36 months. Positive Autism Diagnostic Observation Schedule-Second Edition classification at 36 months was used. Linear mixed effects models were fine-tuned separately for fractional anisotropy values (using fractional anisotropy corpus callosum as test outcome) and mean diffusivity values (using mean diffusivity right posterior limb internal capsule as test outcome). Fixed effects included participant age, within-participant longitudinal age, and autism spectrum disorder diagnosis. Results: Analysis included data from n = 78. After selecting separate optimal models for fractional anisotropy and mean diffusivity values, we applied these models to fractional anisotropy and mean diffusivity of all 27 white matter tracts. Fractional anisotropy corpus callosum was related to positive Autism Diagnostic Observation Schedule-Second Edition classification (coefficient = 0.0093, P = .0612), and mean diffusivity right inferior cerebellar peduncle was related to positive Autism Diagnostic Observation Schedule-Second Edition classification (coefficient = -0.00002071, P = .0445), though these findings were not statistically significant after multiple comparisons correction. Conclusion: These optimized linear mixed effects models possibly implicate corpus callosum and cerebellar pathology in development of autism spectrum disorder in tuberous sclerosis complex, but future studies are needed to replicate these findings and explore contributors of heterogeneity in these models.

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28. Zhao T, Huang CQ, Zhang YH, Zhu YY, Chen XX, Wang T, Shao J, Meng XH, Huang Y, Wang H, Wang HL, Wang B, Xu DX. Prenatal 1-Nitropyrene Exposure Causes Autism-Like Behavior Partially by Altering DNA Hydroxymethylation in Developing Brain. Adv Sci (Weinh);2024 (May 16):e2306294.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, characterized by social communication disability and stereotypic behavior. This study aims to investigate the impact of prenatal exposure to 1-nitropyrene (1-NP), a key component of motor vehicle exhaust, on autism-like behaviors in a mouse model. Three-chamber test finds that prenatal 1-NP exposure causes autism-like behaviors during the weaning period. Patch clamp shows that inhibitory synaptic transmission is reduced in medial prefrontal cortex of 1-NP-exposed weaning pups. Immunofluorescence finds that prenatal 1-NP exposure reduces the number of prefrontal glutamate decarboxylase 67 (GAD67) positive interneurons in fetuses and weaning pups. Moreover, prenatal 1-NP exposure retards tangential migration of GAD67-positive interneurons and downregulates interneuron migration-related genes, such as Nrg1, Erbb4, and Sema3F, in fetal forebrain. Mechanistically, prenatal 1-NP exposure reduces hydroxymethylation of interneuron migration-related genes through inhibiting ten-eleven translocation (TET) activity in fetal forebrain. Supplement with alpha-ketoglutarate (α-KG), a cofactor of TET enzyme, reverses 1-NP-induced hypohydroxymethylation at specific sites of interneuron migration-related genes. Moreover, α-KG supplement alleviates 1-NP-induced migration retardation of interneurons in fetal forebrain. Finally, maternal α-KG supplement improves 1-NP-induced autism-like behaviors in weaning offspring. In conclusion, prenatal 1-NP exposure causes autism-like behavior partially by altering DNA hydroxymethylation of interneuron migration-related genes in developing brain.

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29. Zucker A, Hinton VJ. Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile. Dev Neuropsychol;2024 (Jul);49(4):153-166.

Although most individuals who carry the Fragile X premutation allele, defined as 55-200 CGG repeats on the X-linked FMR1 gene (Fragile X Messenger Ribonucleoprotein 1 gene), do not meet diagnostic criteria for autism spectrum disorder, there is a suggestion of increased behaviors associated with subtle autistic traits. More autism associated characteristics have been reported among adults than children. This may highlight a possible worsening developmental trajectory, variable findings due to research quality or differences in number of studies done in adults vs children, rather than true developmental changes. This review is designed to examine the neurodevelopmental profile associated with the premutation allele from a developmental perspective, focused on autistic traits.

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