1. Ansoborlo M, Gaudichon V, Hazard M, Zopppe H, Defresne D, Guinoiseau K, Salpetrier C, Grammatico-Guillon L, Bonnet-Brilhault F. Coordination and Referral Platforms for Children Aged 7 and Under with Suspected Neurodevelopmental Outcome: What Data for Research on Care and Developmental Trajectories?. Stud Health Technol Inform;2024 (Aug 22);316:1955-1959.

At the core of the child’s medical, social, and educational pathway, coordination and referral platforms (CRPs) for neurodevelopmental disorders (NDDs) have been gradually deployed in France since 2018 and support the early detection of NDDs in children. The 112 nationwide CRPs do not benefit from a common electronic health record system. Our aim was to propose an HER model for CRP to enable real-life data reuse, optimize care pathway management and conduct pre-screening for research. CRP data were collected (n=34) into an application enriched by a NLP tool extracting standardized scales for NDDs assessments from medical and paramedical professionals. NLP tool evaluation presented a precision of 86.4% and recall of 90.5%. CRP support was provided to 195 children included between 1 September 2022 and 31 August 2023, aged 4 years, with a sex ratio of 2.8, with delays reported in language (75%) and concerned by global developmental delays (16%). Children’s ND phenotype and care pathway description could be automated by a harmonized and structured EHR. While many clinical situations are at an impasse, real-life data-driven evidence is particularly relevant in the context of NDDs, where early intervention plays such a key role in children’s development and prognosis. A harmonized and enriched CRP database could benefit both individual and public health levels with pathway monitoring, intervention proposals and research pre-screenings.

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2. Berg Egge HS, Gabarron E. TikTok and YouTube Shorts by Autistic Individuals for Increasing Autism Awareness. Stud Health Technol Inform;2024 (Aug 22);316:1891-1895.

INTRODUCTION: Autistic individuals, parents, organizations, and healthcare systems worldwide are actively sharing content aimed at increasing awareness about autism. This study aims at analyzing the type of contents presented in TikTok and YouTube Shorts videos under the hashtag #actuallyautistic and their potential to increase autism awareness. METHODS: A sample of 60 videos were downloaded and analyzed (n=30 from TikTok and n=30 from YouTube Shorts). Video contents were analyzed using both thematic analysis and the AFINN sentiment analysis tool. The understandability and actionability of the videos were assessed with The Patient Education Materials Assessment Tool for Audiovisual Materials (PEMAT A/V). RESULTS: The contents of these videos covered five main themes: Stigmatization; Sensory difficulties; Masking; Stimming; and Communication difficulties. No statistically significant differences were found on sentiment expressed on videos from both channels. TikTok videos received significantly more views, comments, and likes than videos on YouTube Shorts. The PEMAT A/V tool showed that there is a high level of understandability, but little reference to actionability. DISCUSSION: Autistic people videos content spread valid and reliable information in hopes of normalizing difficulties and provide hope and comfort to others in similar situations. CONCLUSIONS: Social media videos posted by autistic individuals provide accurate portrayals about autism but lack information on actionability. These shared personal stories can help increase public literacy about autism, dispel autism stigmas and emphasize individuality.

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3. Chistol M, Schipor MD, Turcu CE. Psychological variables related to technology-mediated intervention design in autism spectrum disorder. Res Dev Disabil;2024 (Aug 21);153:104826.

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder characterized by persistent impairments in communication, social interaction and learning (Hodges et al., 2020). Because of its heterogeneous nature, ASD presents complex challenges, including social exclusion, school abandonment and limited access to health care. Technologies offer a pragmatic solution to overcome these limitations and to deliver therapeutic interventions in both physical and online environments. Studies have demonstrated that technology-mediated interventions (TMIs) have a positive impact on the development of capabilities of individuals with ASD. However, according to the European Parliament’s Research Service technologies for ASDs are less mature (European Parliament. Directorate General for Parliamentary Research Services., 2018) and the causes and effects of TMIs in ASD should be better understood. AIMS: Present study aimed to investigate the psychological variables related to TMIs in ASD. METHODS AND PROCEDURES: The study employed a survey research method with a between-subjects design involving 61 adult participants comprising therapists, teachers and parents of children with ASD and it examined psychological variables related to children with ASD, factors of technology usage, and parental and educators’ experiences. OUTCOMES AND RESULTS: The analysis of the data obtained from the questionnaire focused on correlations and differences between groups, and was carried out using nonparametric tests. Kendall’s Tau B test was used to explore the relationships between variables. The Mann-Whitney nonparametric test was employed to identify differences between groups. CONCLUSIONS AND IMPLICATIONS: The findings revealed numerous relationships between variables and meaningful differences between the groups investigated in terms of how technologies are perceived by stakeholders involved in ASD interventions.

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4. Gabarron E, Dorronzoro E, Rivera-Romero O, Denecke K. Understanding Emotional Dynamics in Autism Social Media Communities. Stud Health Technol Inform;2024 (Aug 22);316:1901-1905.

Searches for autism on social media have soared, making it a top topic. Social media posts convey not only plain text, but also sentiments and emotions that provide insight into the experiences of the autism community. While sentiment analysis categorizes overall sentiment, emotion analysis provides nuanced insights into specific emotional states. The objective of this study is to identify emotions in posts related to autism and compare the emotions specifically contained in posts that include the hashtag #ActuallyAutistic with those that do not. METHODS: We extracted a sample of X’ posts related to autism and used DistilBERT to assign one out of six emotions (sadness, joy, love, anger, fear, surprise) to each post. RESULTS: We have analyzed a total of 414,287 posts, 98,602 (23.8%) of those included the hashtag #ActuallyAutistic. The most common expressed emotion was joy, which was expressed in 52.5% of the posts, followed by sadness, identified in 28.6% of the posts. 12% of the posts expressed fear, 4.9% reflected anger, 1.1% showed love, and 0.9% expressed surprise. Posts tagged as #ActuallyAutistic showed less joy (27.1% vs. 60.4% in posts without this hashtag, p<0.001) and more sadness (52.7% vs. 21.1% in those without the hashtag, p<0.001). CONCLUSIONS: The use of the hashtag #ActuallyAutistic is associated with a different emotional tone, characterized by less joy and more sadness. These results suggest the need for greater support and acceptance towards the autistic community, both online and in society in general. Insights from our study can be valuable for policy makers, health, educational or other programmes aiming at enhancing well-being, inclusiveness, improve services, and create a more compassionate and understanding atmosphere for autistic people.

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5. Godavarthi SK, Li HQ, Pratelli M, Spitzer NC. Embryonic exposure to environmental factors drives transmitter switching in the neonatal mouse cortex causing autistic-like adult behavior. Proc Natl Acad Sci U S A;2024 (Aug 27);121(35):e2406928121.

Autism spectrum disorders (ASD) can be caused by environmental factors. These factors act early in the development of the nervous system and induce stereotyped repetitive behaviors and diminished social interactions, among other outcomes. Little is known about how these behaviors are produced. In pregnant women, delivery of valproic acid (VPA) (to control seizure activity or stabilize mood) or immune activation by a virus increases the incidence of ASD in offspring. We found that either VPA or Poly Inosine:Cytosine (which mimics a viral infection), administered at mouse embryonic day 12.5, induced a neurotransmitter switch from GABA to glutamate in PV- and CCK-expressing interneurons in the medial prefrontal cortex by postnatal day 10. The switch was present for only a brief period during early postnatal development, observed in male and female mice at postnatal day 21 and reversed in both males and females by postnatal day 30. At postnatal day 90, male mice exhibited stereotyped repetitive behaviors and diminished social interaction while female mice exhibited only stereotyped repetitive behavior. Transfecting GAD1 in PV- and CCK-expressing interneurons at postnatal day 10, to reintroduce GABA expression, overrode the switch and prevented expression of autistic-like behavior. These findings point to an important role of neurotransmitter switching in mediating the environmental causes of autism.

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6. Inoue M, Yamaguchi H, Nakatani K, Nishimoto A, Namiki K, Kuroda S, Tran TVH, Dinh NTT. Effectiveness of Online Parent Training for Vietnamese Parents of Children with Autism Spectrum Disorders. Yonago Acta Med;2024 (Aug);67(3):213-224.

BACKGROUND: Parent training (PT) programs have been implemented for neurodevelopmental disorders such as autism spectrum disorder (ASD) in recent years. However, in Southeast Asia, the diffusion of rehabilitation programs for children with ASD and that of PT as a parental support measure has been slow. METHODS: This study assessed the effectiveness of an online PT program that was developed in Japan and remotely delivered to Vietnamese parents of children with ASD residing in Vietnam. Sixteen parents of Vietnamese children with ASD participated in seven online Tottori University-style PT sessions. The online PT was conducted in real-time from Japan, considering the two-hour time difference between countries. Lectures and exercises were presented in Vietnamese with PowerPoint materials. Japanese staff provided explanations in Japanese, which were then simultaneously translated by a Vietnamese interpreter. Attendance, completion of homework assignments, and the number of statements on Zoom and social media were tallied. A pre-post-test design was employed to measure changes in parents’ mental health factors and children’s behavior. A post-intervention questionnaire was administered to assess participant’s acceptance of PT. RESULTS: The findings showed that attendance and task completion rates were considerably high. The study found that the mental health scores of parents significantly improved after participating in online parenting training compared to before. However, there were no statistically significant improvements found in children’s behavior. The study also confirmed high satisfaction with the cross-country online parenting training. CONCLUSION: This study confirmed that TUPT, developed in Japan and implemented as an online PT for parents of children with ASD living in Vietnam, was effective in improving parental mental health. The program acceptability questionnaire also showed positive results. This study is the first step in the evaluation and dissemination of Internet-based, cross-country parent training for parental support in Asia.

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7. Kotowska M, Kołodziej M, Szajewska H, Łukasik J. The impact of probiotics on core autism symptoms – a systematic review and meta-analysis of randomized clinical trials. Clin Nutr ESPEN;2024 (Aug 20)

BACKGROUND & AIMS: Studies have shown evidence of gut dysbiosis in individuals with autism spectrum disorder (ASD). Various microbiome-modifying treatments, including probiotics, have been proposed. This review systematically assessed the evidence on the effects of probiotics on core autism symptoms in children with ASD. METHODS: We performed a comprehensive literature search in Medline, Embase, CENTRAL, PsycInfo, and clinical trial registries, up to March 2023, and updated on January 10, 2024. Randomized controlled trials (RCTs) of parallel-group and cross-over designs were eligible. The population included individuals below 20 years of age diagnosed with ASD. Trials evaluating the effects of probiotics (any strain or dose) compared to placebo, no treatment, or another intervention were included. The outcomes of interest included the core autism symptoms: deficits in social skills, communication skills, and restricted, repetitive behaviors. No language restrictions were applied. Studies were excluded if an additional active compound was administered. The risk of bias was assessed using the Revised Cochrane Risk of Bias tool (RoB 2). This review was registered in PROSPERO (CRD42023393000). RESULTS: In total, 12 RCTs assessing 630 participants were included. A borderline significant beneficial effect of probiotics on core ASD symptoms was found (8 RCTs, mean difference -0.21; 95% CI -0.39 to -0.03). Subgroup analysis according to study type showed a significant positive effect in parallel group trials (6 RCTs, mean difference -0.26; 95% CI -0.48 to -0.05). The pooled effect estimates for the other outcomes didn’t reveal significant differences between the groups. Importantly, the risk of bias was high in nine studies. CONCLUSIONS: Available data do not provide high-quality evidence supporting the use of probiotics for ASD symptoms in children.

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8. Li Y, Gu J, Li R, Yi H, He J, Gao J. Sensory and motor cortices parcellations estimated via distance-weighted sparse representation with application to autism spectrum disorder. Prog Neuropsychopharmacol Biol Psychiatry;2024 (Aug 22);135:111125.

BACKGROUND: Motor impairments and sensory processing abnormalities are prevalent in autism spectrum disorder (ASD), closely related to the core functions of the primary motor cortex (M1) and the primary somatosensory cortex (S1). Currently, there is limited knowledge about potential therapeutic targets in the subregions of M1 and S1 in ASD patients. This study aims to map clinically significant functional subregions of M1 and S1. METHODS: Resting-state functional magnetic resonance imaging data (NTD = 266) from Autism Brain Imaging Data Exchange (ABIDE) were used for subregion modeling. We proposed a distance-weighted sparse representation algorithm to construct brain functional networks. Functional subregions of M1 and S1 were identified through consensus clustering at the group level. Differences in the characteristics of functional subregions were analyzed, along with their correlation with clinical scores. RESULTS: We observed symmetrical and continuous subregion organization from dorsal to ventral aspects in M1 and S1, with M1 subregions conforming to the functional pattern of the motor homunculus. Significant intergroup differences and clinical correlations were found in the dorsal and ventral aspects of M1 (p < 0.05/3, Bonferroni correction) and the ventromedial BA3 of S1 (p < 0.05/5). These functional characteristics were positively correlated with autism severity. All subregions showed significant results in the ROI-to-ROI intergroup differential analysis (p < 0.05/80). LIMITATIONS: The generalizability of the segmentation model requires further evaluation. CONCLUSIONS: This study highlights the significance of M1 and S1 in ASD treatment and may provide new insights into brain parcellation and the identification of therapeutic targets for ASD.

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9. Liu M, Han J, Zhang Y, Wen J, Wang Y, Hu X, Sun M, Qu L, Han X, Xu L, Zhao H, Lu H, Liu Q. Phonological Development in 3-6-Year-Old Mandarin-Speaking Children with Autism, Developmental Delays, and Typical Development. J Autism Dev Disord;2024 (Aug 23)

Research on the phonological development of children with autism spectrum disorder (ASD) has not yet reached consistent conclusions, and systematic studies from different language groups are needed. This study aimed to systematically investigate the characteristics of phonological development in 3-6 year-old Mandarin-speaking children with ASD. We analyzed 10 min speech samples from 21 children with ASD, 18 development level-matched children with developmental disorders (DD), and 15 chronological age-matched typically developing (TD) children during semi-structured parent-child free play based on Mandarin phonological features. The children with ASD had a significantly smaller inventory than those with TD on the initial and final inventories. The children with ASD had only a significantly smaller initial inventory than those with DD in Phases 2 and 4. Compared with TD children, children with ASD used a higher proportion of V(1) and V(1)V(2)C and a smaller proportion of V(1)V(2)V(3), CV(1)C, and CV(1)V(2)C. No significant differences existed between ASD and DD children in the proportion of any syllable structure, but V(1)V(2)V(3), CV(1), and CV(1)V(2)C numbers were significantly fewer than in DD children. Children with ASD were significantly greater than children with TD in the diversity of V(1)V(2), CV(1), and overall syllables. ASD children had significantly fewer different types of syllables in both V(1)V(2)C and CV(1) than did DD children and significantly greater diversity in CV(1) and overall syllables than did DD children. These preliminary data suggest that the gap between TD and ASD children’s language abilities increased with age, and this gap was reflected in initial, final, and syllable complexity and diversity. Children with DD and ASD showed similar language abilities, and children with DD showed detailed differences from those with ASD regarding initial, syllable complexity and diversity.

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10. London EB, Zimmerman-Bier BL, Yoo JH, Gaffney JW. High-Dose Propranolol for Severe and Chronic Aggression in Autism Spectrum Disorder: A Pilot, Double-Blind, Placebo-Controlled, Randomized Crossover Study. J Clin Psychopharmacol;2024 (Aug 27)

BACKGROUND: Despite the use of behavioral interventions and psychotropic medications, many individuals with autism spectrum disorder (ASD) who engage in severe aggression remain refractory to conventional treatment. Propranolol, a beta-blocker, has accumulated much anecdotal evidence as a promising option. However, well-designed studies are rare, and the apprehension about cardiovascular side effects from large doses continues to exist. PURPOSE: The aims of this study were (1) to demonstrate the feasibility of treating aggression with high-dose propranolol using telehealth study visits and (2) to document cardiac safety. METHODS: This study utilized a randomized, double-blind, placebo-controlled, crossover design. Dosing was titrated up in a flexible but stepwise fashion until therapeutic response was obtained or up to 200 mg tid. Following washout, those who were assigned propranolol were crossed over to placebo and vice versa. Six participants between the ages 12-19 participated. The primary outcome measures were the final Clinical Global Impression Improvement Scale (CGI-I) and the ABC-C/I scores at 200 mg tid. RESULTS: The CGI-I indicated a 50% reduction in symptoms in the propranolol phase, while the ABC-I indicated a 37% reduction in comparison to placebo. The effect sizes ( r ) for the CGI-I and the ABC-C/I were large, -0.74 and 0.64, respectively. The average blood pressure was 122/68 during the placebo phase and 109/72 during the propranolol phase. All Holter monitor exams were unremarkable. CONCLUSION: These results suggest that propranolol is an effective option in decreasing aggression in individuals with ASD. As this was a small study, a larger clinical trial is needed.

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11. Nissenkorn A, Bar L, Ben-Bassat A, Rothstein L, Abdelrahim H, Sokol R, Gabis LV, Attali B. Donepezil as a new therapeutic potential in KCNQ2- and KCNQ3-related autism. Front Cell Neurosci;2024;18:1380442.

INTRODUCTION: The KCNQ2/KCNQ3 genes encode the voltage-gated K channel underlying the neuronal M-current, regulating neuronal excitability. Loss-of-function (LoF) variants cause neonatal epilepsy, treatable with the M-current-opener retigabine, which is no longer marketed due to side effects. Gain-of-function (GoF) variants cause developmental encephalopathy and autism that could be amenable to M-current, but such therapies are not clinically available. In this translational project, we investigated whether donepezil, a cholinergic drug used in Alzheimer’s, suppresses M currents in vitro and improves cognitive symptoms in patients with GoF variants. METHODS: (1) The effect of 1 μM donepezil on the amplitude of the M-current was measured in excitatory and inhibitory neurons of mouse primary cultured hippocampal cells. M-current was measured using the standard deactivation protocol (holding at 0 mV and deactivation at -60 mV) in the voltage-clamp configuration of the whole-cell patch clamp technique. The impact of donepezil was also examined on the spontaneous firing activity of hippocampal neurons in the current-clamp configuration. (2) Four children with autism, aged 2.5-8 years, with the following GoF variants were enrolled: KCNQ2 (p. Arg144Gln) and KCNQ 3 (p.Arg227Gln, p.Arg230Cys). Patients were treated off-label with donepezil 2.5-5 mg/d for 12 months and assessed with: clinical Global Impression of Change (CGI-c), Childhood Autism Rating Scale 2 (CARS-2), Adaptive Behavior Assessment System-II (ABAS-II), and Child Development Inventory (CDI). RESULTS: (1) Application of donepezil for at least 6 min produced a significant inhibition of the M-current with an IC50 of 0.4 μM. At 1 μM, donepezil reduced by 67% the M-current density of excitatory neurons (2.4 ± 0.46 vs. 0.89 ± 0.15 pA/pF, p < 0.05(*)). In inhibitory neurons, application of 1 μM donepezil produced a lesser inhibition of 59% of the M-current density (1.39 ± 0.43 vs. 0.57 ± 0.21, p > 0.05). Donepezil (1 μM) potently increased by 2.6-fold the spontaneous firing frequency, which was prevented by the muscarinic receptor antagonist atropine (10 μM). (2) The CARS-2 decreased by 3.8 ± 4.9 points (p > 0.05), but in two patients with KCNQ3 variants, the improvement was over the 4.5 clinically relevant threshold. The global clinical change was also clinically significant in these patients (CGI-c = 1). The CDI increased by 65% (p < 0.05(*)), while the ABAS-II remained unchanged. DISCUSSION: Donepezil should be repurposed as a novel alternative treatment for GoF variants in KCNQ2/KCNQ3 encephalopathy.

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12. Peristeri E, Vogelzang M, Tsimpli IM, Durrleman S. Bilingualism and second-order theory of mind development in autistic children over time: Longitudinal relations with language, executive functions, and intelligence. Autism Res;2024 (Aug 23)

Theory of Mind has long been studied as a core weakness in autism spectrum disorder due to its relationship with social reciprocity, while bilingualism has been shown to compensate for autistic individuals’ mentalizing weaknesses. However, our knowledge of the Theory of Mind developmental trajectories of bilingual and monolingual autistic children, as well as of the factors related to Theory of Mind development in autism spectrum disorder is still limited. The current study has examined first- and second-order Theory of Mind skills in 21 monolingual and 21 bilingual autistic children longitudinally across three time points, specifically at ages 6, 9, and 12, and also investigated associations between Theory of Mind trajectories and trajectories of the children’s language, intelligence and executive function skills. The results reveal that bilingual autistic children outperformed their monolingual peers in second-order Theory of Mind at ages 9 and 12, and that intelligence and, especially, expressive vocabulary skills played a pivotal role in advancing bilingual autistic children’s second-order Theory of Mind development. On the other hand, monolingual autistic children only managed to capitalize on their language and intelligence resources at age 12. The findings highlight the importance of investigating bilingualism effects on autistic children’s advanced cognitive abilities longitudinally.

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13. Qi K, Liu Y, Wang Z, Xiong X, Cai K, Xu Y, Shi Y, Sun Z, Dong X, Chen A. Recreational ball games are effective in improving social communication impairments among preschoolers diagnosed with autism spectrum disorder: a multi-arm controlled study. BMC Sports Sci Med Rehabil;2024 (Aug 22);16(1):176.

BACKGROUND: This study aimed to compare the effects of two 12-week training intervention experimental ball games combined with standard behavioral rehabilitation against a control group solely utilizing standard behavioral rehabilitation on social communication impairments (SCI) in preschool children with Autism Spectrum Disorder (ASD). METHODS: A multi-arm controlled study design was implemented, involving 41 children diagnosed with ASD (mean age: 4.99 ± 0.76 years). 41 participants were randomized assigned to two experimental groups and a control group, The experimental group carried out ball combination training program group (BCTP) and mini-basketball training program group (MBTP) on the basis of routine behavioral rehabilitation, which underwent 12-week training interventions 5 times a week. The control group (n = 14) received only standard behavioral rehabilitation. Evaluations were conducted before and after interventions using the Social Responsiveness Scale, Second Edition (SRS-2). RESULTS: The results suggest that both 12-week interventions, BCTP, and MBTP, led to significant improvements in social communication impairment among children with ASD (p < 0.05). Despite enhancing the overall scores on the SRS-2, these interventions displayed varying impacts across different sub-dimensions. BCTP primarily exhibited significant enhancements in social awareness and behavior pattern (p < 0.05), whereas MBTP significantly improved social cognition and social communication (p < 0.05). Both interventions showed slight improvements in social motivation. CONCLUSIONS: The utilization of recreational ball games has showed to be effective in decreasing the impairment levels of children with ASD, while the control group experienced a worsening of outcomes. This suggests that irrespective of the specific ball game strategy employed, both can be employed on a weekly basis to complement standard behavioral rehabilitation and enhance the ability to improve the quality of life for children diagnosed with ASD. TRIAL REGISTRATION: The trial is retrospectively registered on the Chinese Clinical Trial Registry (ChiCTR1900024973;August 5, 2019).

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14. Qu L, Wang J. Comment on « Associations between neonatal jaundice and autism spectrum disorder or attention deficit hyperactivity disorder: Nationwide population based cohort study »: Neonatal jaundice and autism spectrum disorder or attention deficit hyperactivity disorder. J Formos Med Assoc;2024 (Aug 23)

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15. Shyu HJ, Ryan Chen YW, Yih Ng D, Bundy A, Tseng MH, Cordier R. Does the PedsQL reflect the real-time quality of life in autistic adolescents? A comparison with the experience sampling methodology. Disabil Health J;2024 (Aug 22):101690.

BACKGROUND: The PedsQL is widely used to retrospectively evaluate quality of life (QoL) in autistic adolescents. However, concerns have arisen regarding its ability to reflect real-time QoL, considering their challenges in recollecting past experiences. OBJECTIVE: We examined the overall and social QoLs of autistic adolescents compared to neurotypical peers using the PedsQL and the experience sampling method (ESM), an ecological momentary assessment of QoL in real-time. Additionally, we explored the relationship between these measures in each group. METHODS: A total of 175 participants, including 117 autistic and 58 neurotypical adolescents aged 10-16, completed the PedsQL and an ESM protocol with a mobile device to record their real-time experiences seven times a day for seven days. We performed multiple linear regression and multilevel analyses to compare QoLs between groups and the association between the two measures. RESULTS: Autistic adolescents scored significantly lower than neurotypical peers on PedsQL overall and social QoL but not on the real-time experiences collected with ESM. Among neurotypical adolescents, we found significant associations between the Social Functioning score of the PedsQL and various aspects of real-time social experiences recorded with ESM. For autistic adolescents, only the real-time experience of ‘loneliness’ during social engagement was associated with Social Functioning on the PedsQL. CONCLUSIONS: The retrospective PedsQL does not entirely capture the real-time QoL via ESM. However, relying solely on ESM may overlook situations where participants opt out or could not complete surveys. Thus, using both retrospective and real-time assessments to examine QoL among autistic adolescents is recommended.

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16. Strader S, Vawter-Lee M, Pena L, Huxol H, Harris C. Why genetic testing is important in patients with developmental disabilities-a unique case of progressive hypertonia and chorea: VARS2-related disorder. Pm r;2024 (Aug 23)

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17. Yang D, Svoboda AM, George TG, Mansfield PK, Wheelock MD, Schroeder ML, Rafferty SM, Sherafati A, Tripathy K, Burns-Yocum T, Forsen E, Pruett JR, Marrus NM, Culver JP, Constantino JN, Eggebrecht AT. Mapping neural correlates of biological motion perception in autistic children using high-density diffuse optical tomography. Mol Autism;2024 (Aug 22);15(1):35.

BACKGROUND: Autism spectrum disorder (ASD), a neurodevelopmental disorder defined by social communication deficits plus repetitive behaviors and restricted interests, currently affects 1/36 children in the general population. Recent advances in functional brain imaging show promise to provide useful biomarkers of ASD diagnostic likelihood, behavioral trait severity, and even response to therapeutic intervention. However, current gold-standard neuroimaging methods (e.g., functional magnetic resonance imaging, fMRI) are limited in naturalistic studies of brain function underlying ASD-associated behaviors due to the constrained imaging environment. Compared to fMRI, high-density diffuse optical tomography (HD-DOT), a non-invasive and minimally constraining optical neuroimaging modality, can overcome these limitations. Herein, we aimed to establish HD-DOT to evaluate brain function in autistic and non-autistic school-age children as they performed a biological motion perception task previously shown to yield results related to both ASD diagnosis and behavioral traits. METHODS: We used HD-DOT to image brain function in 46 ASD school-age participants and 49 non-autistic individuals (NAI) as they viewed dynamic point-light displays of coherent biological and scrambled motion. We assessed group-level cortical brain function with statistical parametric mapping. Additionally, we tested for brain-behavior associations with dimensional metrics of autism traits, as measured with the Social Responsiveness Scale-2, with hierarchical regression models. RESULTS: We found that NAI participants presented stronger brain activity contrast (coherent > scrambled) than ASD children in cortical regions related to visual, motor, and social processing. Additionally, regression models revealed multiple cortical regions in autistic participants where brain function is significantly associated with dimensional measures of ASD traits. LIMITATIONS: Optical imaging methods are limited in depth sensitivity and so cannot measure brain activity within deep subcortical regions. However, the field of view of this HD-DOT system includes multiple brain regions previously implicated in both task-based and task-free studies on autism. CONCLUSIONS: This study demonstrates that HD-DOT is sensitive to brain function that both differentiates between NAI and ASD groups and correlates with dimensional measures of ASD traits. These findings establish HD-DOT as an effective tool for investigating brain function in autistic and non-autistic children. Moreover, this study established neural correlates related to biological motion perception and its association with dimensional measures of ASD traits.

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18. Zeng X, Fan L, Qin Q, Zheng D, Wang H, Li M, Jiang Y, Wang H, Liu H, Liang S, Wu L, Liang S. Exogenous PD-L1 binds to PD-1 to alleviate and prevent autism-like behaviors in maternal immune activation-induced male offspring mice. Brain Behav Immun;2024 (Aug 23);122:527-546.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder caused by the interaction of multiple pathogenic factors. Epidemiological studies and animal experiments indicate that maternal immune activation (MIA) is closely related to the development of ASD in offspring. A large number of pro-inflammatory cytokines are transferred from the placenta to the fetal brain during MIA, which impedes fetal neurodevelopment and is accompanied by activation of immune cells and microglia. Programmed cell death protein 1 (PD-1) can be highly expressed on the surface of various activated immune cells, when combined with programmed cell death-ligand 1 (PD-L1), it can activate the PD-1/PD-L1 pathway and exert powerful immunosuppressive effects, suggesting that this immune checkpoint may have the potential to treat MIA-induced ASD. This study combined bioinformatics analysis and experimental validation to explore the efficacy of Fc-fused PD-L1 (PD-L1-Fc) in treating MIA-induced ASD. Bioinformatics analysis results showed that in human placental inflammation, IL-6 was upregulated, T cells proliferated significantly, and the PD-1/PD-L1 pathway was significantly enriched. The experimental results showed that intraperitoneal injection of poly(I:C) induced MIA in pregnant mice resulted in significant expression of IL-6 in their serum, placenta, and fetal brain. At the same time, the expression of PD-1 and PD-L1 in the placenta and fetal brain increased, CD4(+) T cells in the spleen were significantly activated, and PD-1 expression increased. Their offspring mice exhibited typical ASD-like behaviors. In vitro experiments on primary microglia of offspring mice have confirmed that the expression of IL-6, PD-1, and PD-L1 is significantly increased, and PD-L1-Fc effectively reduced their expression levels. In the prefrontal cortex of MIA offspring mice, there was an increase in the expression of IL-6, PD-1, and PD-L1; activation of microglial cells, and colocalization with PD-1. Then we administered brain stereotaxic injections of PD-L1-Fc to MIA offspring mice and intraperitoneal injections to MIA pregnant mice. The results indicated that PD-L1-Fc effectively suppressed neuroinflammation in the frontal cortex of offspring mice and partially ameliorated ASD-like behaviors; MIA in pregnant mice was significantly alleviated, and the offspring mice they produced did not exhibit neuroinflammation or ASD-like behaviors. In summary, we have demonstrated the therapeutic ability of PD-L1-Fc for MIA-induced ASD, aiming to provide new strategies and insights for the treatment of ASD.

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