1. Abreu NJ, Chiujdea M, Liu S, Zhang B, Spence SJ. Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders. Pediatric neurology. 2023; 150: 17-23.

BACKGROUND: We sought to identify patient and provider factors associated with low completion of genetic testing, specifically chromosomal microarray (CMA), for autism spectrum disorder (ASD). METHODS: Medical record review was conducted of children newly diagnosed with ASD without prior genetic testing at a single academic medical center from February 2015 through January 2016. RESULTS: Only 41.9% of individuals with ASD completed CMA testing over at least 18 months from diagnosis (n = 140 of 334). Time to CMA completion varied, with a median of 86.5 days (interquartile range 2 to 214.5 days). Provider recommendation of genetic testing at the diagnostic visit and greater number of follow-up visits were associated with CMA completion. On multivariate regression, CMA completion was inversely associated with age (odds ratio [OR] = 0.8 for each year older, 95% confidence interval [CI] 0.7, 0.9; P = 0.001) and directly associated with intellectual disability or global developmental delay (OR = 2.2, 95% CI 1.3, 3.8; P = 0.004), first-degree relative with ASD (OR = 2.5, 95% CI 1.0, 6.0; P = 0.044), and public insurance (OR = 1.7, 95% CI 1.0, 2.9; P = 0.037). Parental concern and cost/insurance coverage were the most frequently documented barriers. CONCLUSIONS: Workflows to support early genetic testing recommendation and ordering soon after diagnosis may increase utilization, incorporating both family and provider perspectives. Genetic counseling highlighting the utility of genetic testing across the life span, phenotypic variability of genetic disorders, and possibility of de novo variants in ASD may also improve utilization.

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2. Birtele M, Del Dosso A, Xu T, Nguyen T, Wilkinson B, Hosseini N, Nguyen S, Urenda JP, Knight G, Rojas C, Flores I, Atamian A, Moore R, Sharma R, Pirrotte P, Ashton RS, Huang EJ, Rumbaugh G, Coba MP, Quadrato G. Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis. Nature neuroscience. 2023.

Genes involved in synaptic function are enriched among those with autism spectrum disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has been implicated as a convergent mechanism in ASD pathophysiology, yet it remains unknown how ‘synaptic’ ASD risk genes contribute to these phenotypes, which arise before synaptogenesis. Here, we show that the synaptic Ras GTPase-activating (RASGAP) protein 1 (SYNGAP1, a top ASD risk gene) is expressed within the apical domain of human radial glia cells (hRGCs). In a human cortical organoid model of SYNGAP1 haploinsufficiency, we find dysregulated cytoskeletal dynamics that impair the scaffolding and division plane of hRGCs, resulting in disrupted lamination and accelerated maturation of cortical projection neurons. Additionally, we confirmed an imbalance in the ratio of progenitors to neurons in a mouse model of Syngap1 haploinsufficiency. Thus, SYNGAP1-related brain disorders may arise through non-synaptic mechanisms, highlighting the need to study genes associated with neurodevelopmental disorders (NDDs) in diverse human cell types and developmental stages.

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3. Bogatova D, Smirnakis SM, Palagina G. Tug-of-peace: Visual Rivalry and Atypical Visual Motion Processing in MECP2 duplication Syndrome of Autism. eNeuro. 2023.

Extracting common patterns of neural circuit computations in the autism spectrum and confirming them as a cause of specific core traits of autism is the first step towards identifying cell- and circuit-level targets for effective clinical intervention. Studies in humans with autism have identified functional links and common anatomical substrates between core restricted behavioral repertoire, cognitive rigidity, and over-stability of visual percepts during visual rivalry. To study these processes with single-cell precision and comprehensive neuronal population coverage, we developed the visual bi-stable perception paradigm for mice based on ambiguous moving plaid patterns consisting of two transparent gratings drifting at an angle of 120°. This results in spontaneous reversals of the perception between local component motion (plaid perceived as two separate moving grating components) and integrated global pattern motion (plaid perceived as a fused moving texture). This robust paradigm doesn’t depend on the explicit report of the mouse, since the direction of the optokinetic nystagmus (OKN) is used to infer the dominant percept. Using this paradigm, we found that the rate of perceptual reversals between global and local motion interpretations is reduced in the methyl-CpG binding protein 2 duplication syndrome (MECP2-ds) mouse model of autism. Moreover, the stability of local motion percepts is greatly increased in MECP2-ds mice at the expense of global motion percepts. Thus, our model reproduces a subclass of the core features in human autism (reduced rate of visual rivalry and atypical perception of visual motion). This further offers a well-controlled approach for dissecting neuronal circuits underlying these core features.Significance StatementAutism is a disorder of distributed computations, spanning low-level sensation and high-level sensorimotor integration, decision-making and social cognition. A distributed computation involving both low-level sensory and high-level executive processes, visual rivalry represents a potential candidate approach for the study of autism. We developed and applied the monocular rivalry paradigm based on competition between local and global visual motion in the mouse model of monogenic autism – MECP2 duplication syndrome. MECP2 duplication mice show slowed visual rivalry and favor local over global motion interpretation of the stimulus. This recapitulates the phenotype of human idiopathic autism and offers a way to dissect the circuit of altered visual motion processing and visual rivalry in autism using mouse models of autism.

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4. Cadondon S, Dawson M, Carriere JA, Griffiths AJ, Gehricke JG. Short report: Initial pilot of a brief career development program for autistic young adults. Research in developmental disabilities. 2023; 143: 104634.

BACKGROUND: Many autistic young adults may struggle to progress to further education or employment after high school, highlighting the need for tailored career development programs. If provided with the proper resources and support, the obstacles faced by autistic youth in pursuing post-secondary activities may decrease. AIMS: This pilot study aimed to examine the feasibility and preliminary efficacy of a brief career development program consisting of a strengths and challenges intervention paired with a 12-week workshop intervention. METHODS AND PROCEDURES: We studied the participants’ changes in confidence and participation in pursuing post-secondary activities using a series of questionnaires in 20 participants, ages 16-23. The Myers-Briggs Type Indicator (MBTI) and Strong Interest Inventory (SII) helped the participants choose a post-secondary path. The 1-9 Vocational Index Scale measured post-secondary participation and hours working in a normed fashion. The Confidence Index Interval: Entering Workforce measured the participants’ perceived confidence related to career transition. OUTCOMES AND RESULTS: Our results suggested that a brief career development program paired with a strengths and challenges intervention significantly increased post-secondary involvement in autistic young adults (N = 20, p = 0.014). There were no significant changes in confidence. CONCLUSIONS AND IMPLICATIONS: These findings provide proof of concept of a brief career development program using the MBTI and SII in young adults with ASD. WHAT THIS PAPER ADDS: Research in career development and transition for autistic young adults reveals that career interventions specific to the autistic population are lacking. Our pilot study explores a new type of intervention that incorporates the analysis of personal strengths and challenges with a 12-week transition workshop. Our project is the first to utilize the MBTI and SII as a tool to guide autistic youth in choosing a post-secondary path. The results of our study suggest that our program significantly improves post-secondary participation in autistic young adults. The findings provide proof of concept of using the MTBI and SII with a 12-week workshop for autistic young adults. At the end of our program, several participants began pursuing post-secondary education on track to obtain associate’s (N = 8) or bachelor’s (N = 3) degrees. Some began trade school (N = 3) and internships (N = 2), and others began employment or onboarding to employment (N = 4). Given the need for more evidence-based career interventions for autistic adults, our pilot study contributes significantly to autism research to better serve the autistic population.

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5. Casale LM, Gentles SJ, McLaughlin J, Schneider M. Service access experiences of immigrant and refugee caregivers of autistic children in Canada: A scoping review. PloS one. 2023; 18(11): e0293656.

Primary caregivers are the main mediators of care for children with an autism diagnosis in Canada, and the navigation process to gain access to autism-related services is known to be a major burden. These challenges to service access are compounded for newcomers to Canada, which include immigrants and refugees. The purpose of this scoping review is to describe the available research on Canadian newcomer caregiver experiences navigating and accessing autism-related services. After a systematic search and screening process, 28 studies were included. Data were extracted regarding the populations, study aims, and themes reported. Included studies characterized barriers and facilitators to service access and navigation specific to immigrants, while limited information was available for refugees. Based on the existing literature, the authors provide recommendations for possible research approaches, populations to include, and themes to examine in future research to promote health equity in Canadian autism service access.

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6. Cheng Y, Lu JW, Wang JH, Loh CH, Chen TL. Associations of atopic dermatitis with attention deficit/hyperactivity disorder and autism spectrum disorder: a systematic review and meta-analysis. Dermatology (Basel, Switzerland). 2023.

BACKGROUND: Atopic dermatitis (AD) shares similarities with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) regarding pathogenesis involving inflammation and genetics. Nevertheless, evidence on the associations of AD with ADHD and/or ASD is inconclusive. This study aimed to systematically examine the existing evidence on the associations between AD, ADHD, and ASD. METHODS: The Meta-analysis of Observational Studies in Epidemiology guideline was followed. We searched MEDLINE, Embase, Cochrane Library, and Web of Science databases from their respective inceptions through February 4, 2022. Observational studies providing adjusted estimates and/or prevalences for ADHD and ASD in patients with AD were enrolled. A random-effects model meta-analysis was conducted to calculate pooled odds ratios (ORs) and confidence intervals (CIs). Subgroup analyses according to AD severity, age, geographic location, and study design were performed. RESULTS: Overall, a total of 24 studies with 71,373,639 subjects were enrolled. Our meta-analysis demonstrated significant associations of AD with ADHD (pooled OR, 1.28; 95% CI, 1.18-1.40) and ASD (pooled OR, 1.87; 95% CI, 1.30-2.68). Subgroup analyses revealed that the associations for ADHD were most prominent in studies evaluating severe AD patients as well as in studies focusing on school-age children and adolescents. Among patients with AD, the pooled prevalence of ADHD was 6.6% and the respective prevalence of ASD was 1.6%. CONCLUSION: The evidence to date suggests significant associations of AD with ADHD and ASD. Psychiatric consultation and an interdisciplinary approach would benefit patients with AD presented with behavioral symptoms suggestive of ADHD or ASD.

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7. Gal A, Raykin E, Giladi S, Lederman D, Kofman O, Golan HM. Temporal dynamics of isolation calls emitted by pups in environmental and genetic mouse models of autism spectrum disorder. Frontiers in neuroscience. 2023; 17: 1274039.

INTRODUCTION: Environmental and genetic factors contribute to the increased risk for neurodevelopmental disorders, including deficits in the development of social communication. In the mouse, ultrasonic vocalizations emitted by the pup stimulate maternal retrieval and potentiate maternal care. Therefore, isolation induced ultrasonic vocalization emitted by pups provides a means to evaluate deficits in communication during early development, before other ways of communication are apparent. Previous studies in our labs showed that gestational exposure to the pesticide chlorpyrifos (CPF) and the Methylenetetrahydrofolate (Mthfr)-knock-out mice are associated with impaired social preference, restricted or repetitive behavior and altered spectral properties of pups’ ultrasonic vocalization. In this study, we explore the temporal dynamics of pups’ vocalization in these Autism spectrum disorder (ASD) models. METHODS: We utilized the maternal potentiation protocol and analyzed the time course of pup vocalizations following isolation from the nest. Two models of ASD were studied: gestational exposure to the pesticide CPF and the Mthfr-knock-out mice. RESULTS: Vocalization emitted by pups of both ASD models were dynamically modified in quantity and spectral structure within each session and between the two isolation sessions. The first isolation session was characterized by a buildup of call quantity and significant effects of USV spectral structure variables, and the second isolation session was characterized by enhanced calls and vocalization time, but minute effect on USV properties. Moreover, in both models we described an increased usage of harmonic calls with time during the isolation sessions. DISCUSSION: Communication between two or more individuals requires an interplay between the two sides and depends on the response and the time since the stimulus. As such, the presence of dynamic changes in vocalization structure in the control pups, and the alteration observed in the pups of the ASD models, suggest impaired regulation of vocalization associated with the environmental and genetic factors. Last, we propose that temporal dynamics of ultrasonic vocalization communication should be considered in future analysis in rodent models of ASD to maximize the sensitivity of the study of vocalizations.

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8. Goryunova AV, Danilova LY, Shevchenko YS, Voronkova NA, Goryunov AV. [The clinic of autistic disorders at an early age]. Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2023; 123(9. Vyp. 2): 14-9.

OBJECTIVE: To study disorders of mental development and psychopathological symptoms in young children with autistic disorders of various origins. MATERIAL AND METHODS: Two hundred and sixty-five children, aged 9 months to 4 years, (201 boys, 64 girls) with symptoms of autistic disorder were examined. The patients were divided into two age groups – the 1st group consisted of 36 children, aged 9 months to 2 years, the 2nd group consisted of 229 children from 2 years to 4 years. Psychopathological, neurological and clinical-dynamic methods were used, taking into account the results of consultations with a speech therapist, defectologist, psychologist. RESULTS: The number of visits to a psychiatrist by parents of children older than two years becomes significantly higher – 13.6% (n=36) and 86.4% (n=112), respectively (p≤0.05), as well as the diagnosis of autistic disorder – 8.3% (n=3) and 16.2% (n=37) respectively, p≤0.05). In both age groups, the diagnosis of «Other general developmental disorders» (F84.8) was most often established, with a significant predominance in the younger group – 80.5% and 72%, respectively (p≤0.05). Characteristic symptoms-markers of autism for both age groups are highlighted. It is shown that the diagnoses of childhood autism, Kanner syndrome, exposed at the first treatment, were preserved in all patients after three years. By the age of four, it was possible to clarify the diagnosis in 32% of cases. At the same time, 68% of patients, aged 4 years, retained a clinically undifferentiated diagnosis of F84.8. CONCLUSION: The study showed an increase in the diagnosis of autistic disorder during the first years of life. The necessity of increasing the knowledge of early-age psychiatry among specialists and the organization of a system of early detection, timely treatment and rehabilitation of autistic disorders in children of the first years of life in children’s polyclinics is noted.

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9. Harris HK, Weissman L, Friedlaender EY, Neumeyer AM, Friedman AJ, Spence SJ, Rotman C, Krauss S, Broder-Fingert S, Weitzman C. Optimizing Care for Autistic Patients in Healthcare Settings: A Scoping Review and Call To Action. Academic pediatrics. 2023.

BACKGROUND: Within healthcare settings, morbidity and mortality for autistic individuals is high, with unmet health needs despite greater healthcare utilization. OBJECTIVE: We conducted a scoping review of interventions designed to improve the healthcare experiences of autistic individuals and assessed the methodology and outcomes used to evaluate them. DATA SOURCES: Literature from January 2005 to August 2023 was searched using PubMed, EMBASE, CINAHL, PsycINFO as well as hand searching. STUDY SELECTION: Studies included described an intervention for autistic individuals in inpatient or outpatient healthcare settings and evaluated the intervention using standardized methodology. DATA EXTRACTION: Results were exported to Covidence software. Ten reviewers completed abstract screening, full text review, and then systematic data extraction of the remaining articles. Two reviewers evaluated each article at each stage, with a third reviewer arbitrating differences. RESULTS: A total of 49 studies, including 6 randomized controlled trials (RCTs) were included. Thirty-four (69%) took place in dental, psychiatric, or procedural settings. Interventions primarily focused on visit preparation and comprehensive care plans or pathways (N = 38, 78%). The most frequent outcome was procedural compliance (N=15), followed by improved problem behaviors (N=8).Two studies involved autistic individuals and caregivers in study design, and no studies assessed racial/ethnic diversity on intervention impact. LIMITATIONS: Articles may have been missed based on our search strategy and the key words chosen. CONCLUSION: Well-designed evaluations of interventions to support autistic individuals in pediatric healthcare settings are limited. There is a need to conduct large multi-site intervention implementation studies.

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10. Huang Y, Huang Y, Lin M, Tao Y. Seeking central hopelessness symptoms which direct link to resilience among parents of children with autism spectrum disorder in China-A network perspective. PsyCh journal. 2023.

The intervention process for children with autism spectrum disorder (ASD) is inextricably associated with their parents’ mental health problems, such as hopelessness, which may adversely affect resilience and indirectly impact the effectiveness of interventions for their children. Hence, the motivation to help parents of children with ASD reduce hopelessness prompted us to conduct the present study and explore the interrelationship between hopelessness symptoms and resilience. This study evaluated hopelessness and resilience using the Beck Hopelessness Scale (BHS) and the Connor-Davidson Resilience Scale (CD-RISC). Participants met the criteria for their children’s ASD diagnosis by a psychiatrist (N = 448; 54.69% mothers; Mean(age)  = 34.59 years, SD(age)  = 4.94 years). Moreover, we used symptom network analysis to examine the variability in network structure between fathers and mothers. The flow function was applied to examine which hopelessness symptoms were directly or indirectly associated with resilience. The results showed that #BHS11 (i.e., unpleasantness-ahead) was the central symptom found in the network structure for all parents and fathers, while #BHS17 (i.e., no-future-satisfaction) was the central symptom in the network structure for mothers. Additionally, #BHS6 ([NOT] expect-to-succeed) was directly and positively associated with resilience in all three network structures (i.e., all parents, fathers, and mothers). The results of the present study provide evidence that influential symptoms should be addressed and offer guidance for further interventions to reduce hopelessness and enhance resilience among parents of children with ASD.

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11. Jordan TL, Bartholomay KL, Lee CH, Lightbody AA, Reiss AL. Cognition, academic achievement, and adaptive behavior in school-aged girls with fragile X syndrome. Research in developmental disabilities. 2023; 143: 104622.

BACKGROUND: Fragile X syndrome (FXS) is the leading monogenic cause of intellectual disability and autism in males and females. Females with FXS typically display a milder cognitive phenotype than males, despite experiencing significant developmental, behavioral, and social-emotional issues. AIMS: To measure and distinguish the cognitive-behavioral profile of girls with FXS relative to verbal IQ-matched peers. METHODS AND PROCEDURES: Ninety-seven participants (N(FXS)=55, N(comparison)=42) six to 16 years of age completed assessments evaluating cognition, academic achievement, and adaptive behavior. The comparison group consisted of age-, sex-, and verbal IQ-matched peers. OUTCOMES AND RESULTS: Consistent with previous studies, the FXS group demonstrated mean cognitive skills, academic achievement, and adaptive behavior in the borderline to low average range. On average, the FXS group showed poorer nonverbal reasoning, visual pattern recognition, verbal abstraction, math abilities, attention, inhibitory control, and working memory than the comparison group. There were no significant group differences in adaptive behavior. Different patterns of associations between cognition and selected outcomes emerged in each group. CONCLUSIONS AND IMPLICATIONS: Results highlight the importance of identifying specific cognitive-behavioral profiles in girls with FXS to inform more targeted interventions for optimizing outcomes and quality of life in this population.

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12. Lee SH, Kang HN, Kim S. The experiences of students with intellectual and developmental disabilities, parents, and teachers regarding health self-advocacy program with school-home connection: a qualitative study. Frontiers in psychiatry. 2023; 14: 1273324.

BACKGROUND: Despite the importance of health as a significant indicator of quality of life, individuals with intellectual and developmental disabilities (IDD) often face low expectations, stigma, and insufficient opportunities in health care and education. In response, we developed a health self-advocacy program with a school-home connection for students with IDD to promote self-directed health care and verified its effectiveness by implementing the program for students with IDD. OBJECTIVE: This study aimed to explore participants’ program experiences and support needs to reduce the stigma surrounding individuals with IDD and provide implications for enhancing health self-advocacy skills. METHODS: Individual and focus group interviews were conducted with 14 students, six parents, and four teachers who participated in the program. The collected data were analyzed using the constant comparative method. RESULTS: The following five main themes emerged: (a) the gap between perception and practice in health care; (b) advantages and influencing factors of the program; (c) challenges in program implementation; (d) outcomes of program implementation; and (e) support needs for promoting health self-advocacy. CONCLUSION: Based on these findings, implications are provided and discussed to reduce the stigma surrounding individuals with IDD and enhance health self-advocacy.

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13. Li L, Su YE, Hou W, Zhou M, Xie Y, Zou X, Li M. Expressive Language Profiles in a Clinical Screening Sample of Mandarin-Speaking Preschool Children With Autism Spectrum Disorder. Journal of speech, language, and hearing research : JSLHR. 2023; 66(11): 4497-518.

PURPOSE: This cross-sectional study aimed to depict expressive language profiles and clarify lexical-grammatical interrelationships in Mandarin-speaking preschoolers with autism spectrum disorder (ASD) during the administration of the simplified Chinese Psychoeducational Profile-Third Edition screening. METHOD: We collected naturalistic language samples from 81 (74 boys, seven girls) 2- to 7-year-old (M(age) = 55.6 months, SD = 15.17) Mandarin-speaking children with ASD in clinician-child interactions. The child participants were divided into five age subgroups with 12-month intervals according to their chronological age. Computer-assisted part-of-speech tagging, constituency analysis, and dependency analysis addressed the developmental trajectories of early lexical and grammatical growth in each age subgroup. RESULTS: Significant within-ASD differences were observed in content words, function words, and lexical categories. Nouns and verbs were the predominant lexical categories, while noun types overwhelmed verb types in children over 3 years old. The grammatical development of 5- to 6-year-old Mandarin-speaking children with ASD was better than that of 3- to 4-year-old children. The trends of syntactic structures, grammatical relations, and grammatical complexity in each age group were similar. CONCLUSIONS: Mandarin-speaking preschoolers with ASD produce more lexicons with increasing age. They preserve the noun bias as a universal mechanism in early lexical learning. Moreover, their developmental trajectories of grammatical growth were comparable in each age subgroup. In addition, their lexicons and grammar were synchronically developed during early language acquisition.

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14. Maltman N, Willer R, Sterling A. An Exploratory Study of Pragmatic Language Use Across Contexts With the Pragmatic Rating Scale-School Age Among Autistic Boys and Boys With Fragile X Syndrome Plus Autism. Journal of speech, language, and hearing research : JSLHR. 2023; 66(11): 4547-57.

PURPOSE: Autistic boys and boys with co-occurring fragile X syndrome and autism spectrum disorder (FXS + ASD) demonstrate similar pragmatic language difficulties. The Pragmatic Rating Scale-School Age (PRS-SA) captures ecologically valid metrics of pragmatic language impairments in these populations. It is traditionally scored based on the Autism Diagnostic Observation Schedule (ADOS), which may limit the use of the PRS-SA more broadly in research and clinical contexts. METHOD: This study evaluated the feasibility of the PRS-SA based on a shorter, semistructured conversational context compared to the ADOS in school-age autistic boys (n = 16) and boys with FXS + ASD (n = 16), matched on ASD traits. Differences across ADOS and conversational contexts and associations with ASD-related social difficulties were evaluated. RESULTS: Findings revealed differences in PRS-SA scores between ADOS and conversational contexts, but only for the FXS + ASD group. Limited associations were observed between PRS-SA scores and ASD traits. CONCLUSIONS: Results from this study indicate the feasibility of using the PRS-SA in a shorter conversational context than the ADOS to assess pragmatic language among autistic boys. For boys with FXS + ASD, contextual differences warrant careful consideration in future work.

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15. Mohammad Nezhady MA, Cagnone G, Joyal JS, Chemtob S. Lack of HCAR1, the lactate GPCR, signaling promotes autistic-like behavior. Cell communication and signaling : CCS. 2023; 21(1): 196.

The GPCR HCAR1 is known to be the sole receptor for lactate, which modulates its metabolic effects. Despite its significant role in many processes, mice deficient in HCAR1 exhibit no visible phenotype and are healthy and fertile. We performed transcriptomic analysis on HCAR1 deficient cells, in combination with lactate, to explore pathophysiologically altered processes. Processes such as immune regulation, various cancers, and neurodegenerative diseases were significantly enriched for HCAR1 transcriptomic signature. However, the most affected process of all was autism spectrum disorder. We performed behavioral tests on HCAR1 KO mice and observed that these mice manifest autistic-like behavior. Our data opens new avenues for research on HCAR1 and lactate effect at a pathological level. Video Abstract.

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16. Pedini G, Chen CL, Achsel T, Bagni C. Cancer drug repurposing in autism spectrum disorder. Trends in pharmacological sciences. 2023.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with uncertain origins. Understanding of the mechanisms underlying ASD remains limited, and treatments are lacking. Genetic diversity complicates drug development. Given the complexity and severity of ASD symptoms and the rising number of diagnoses, exploring novel therapeutic strategies is essential. Here, we focus on shared molecular pathways between ASD and cancer and highlight recent progress on the repurposing of cancer drugs for ASD treatment, such as mTOR inhibitors, histone deacetylase inhibitors, and anti-inflammatory agents. We discuss how to improve trial design considering drug dose and patient age. Lastly, the discussion explores the critical aspects of side effects, commercial factors, and the efficiency of drug-screening pipelines; all of which are essential considerations in the pursuit of repurposing cancer drugs for addressing core features of ASD.

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17. Rudolph S, Badura A, Lutzu S, Pathak SS, Thieme A, Verpeut JL, Wagner MJ, Yang YM, Fioravante D. Cognitive-Affective Functions of the Cerebellum. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023; 43(45): 7554-64.

The cerebellum, traditionally associated with motor coordination and balance, also plays a crucial role in various aspects of higher-order function and dysfunction. Emerging research has shed light on the cerebellum’s broader contributions to cognitive, emotional, and reward processes. The cerebellum’s influence on autonomic function further highlights its significance in regulating motivational and emotional states. Perturbations in cerebellar development and function have been implicated in various neurodevelopmental disorders, including autism spectrum disorder and attention deficit hyperactivity disorder. An increasing appreciation for neuropsychiatric symptoms that arise from cerebellar dysfunction underscores the importance of elucidating the circuit mechanisms that underlie complex interactions between the cerebellum and other brain regions for a comprehensive understanding of complex behavior. By briefly discussing new advances in mapping cerebellar function in affective, cognitive, autonomic, and social processing and reviewing the role of the cerebellum in neuropathology beyond the motor domain, this Mini-Symposium review aims to provide a broad perspective of cerebellar intersections with the limbic brain in health and disease.

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18. Sarigul N, Bozatli L, Kurultak I, Korkmaz F. Using urine FTIR spectra to screen autism spectrum disorder. Scientific reports. 2023; 13(1): 19466.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder caused by multiple factors, lacking clear biomarkers. Diagnosing ASD still relies on behavioural and developmental signs and usually requires lengthy observation periods, all of which are demanding for both clinicians and parents. Although many studies have revealed valuable knowledge in this field, no clearly defined, practical, and widely acceptable diagnostic tool exists. In this study, 26 children with ASD (ASD+), aged 3-5 years, and 26 sex and age-matched controls are studied to investigate the diagnostic potential of the Attenuated Total Reflectance-Fourier Transform Infrared (ATR-FTIR) spectroscopy. The urine FTIR spectrum results show a downward trend in the 3000-2600/cm region for ASD+ children when compared to the typically developing (TD) children of the same age. The average area of this region is 25% less in ASD+ level 3 children, 29% less in ASD+ level 2 children, and 16% less in ASD+ level 1 children compared to that of the TD children. Principal component analysis was applied to the two groups using the entire spectrum window and five peaks were identified for further analysis. The correlation between the peaks and natural urine components is validated by artificial urine solutions. Less-than-normal levels of uric acid, phosphate groups, and ammonium ([Formula: see text]) can be listed as probable causes. This study shows that ATR-FTIR can serve as a practical and non-invasive method to screen ASD using the high-frequency region of the urine spectrum.

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19. Su L, Lin Z, Li Y, Wang X, Lin Z, Dong L, Wei L. Own-Age Effects in a Face-Emotion Recognition Intervention for Children With ASD–Evidence From Eye Movements. Psychology research and behavior management. 2023; 16: 4479-90.

BACKGROUND: The own-age effect is the phenomenon in which individuals perceive and recognize faces of their own age better than others in terms of cognitive processing. Previous eye movement studies on children with autism spectrum disorders (ASD) have reported that children with ASD have an attentional bias toward own-age faces and own-age scenes. METHODS: The present study used own-age faces as the intervention material and examined the application of the own-age effect in the emotional recognition of faces in ASD. The length of the intervention was 12 weeks, and 2 sessions were conducted each week. RESULTS: The results revealed that the own-age face intervention group gazed at children’s faces significantly more often than before the intervention, gazed at children’s angry faces significantly longer than before the intervention, and gazed at adults’ happy faces significantly longer and more often than before the intervention; the other-age faces intervention group did not differ significantly from the preintervention in gazing at children’s and adults’ faces after the intervention. CONCLUSION: The results suggest that own-age faces as teaching materials can better promote the emotion recognition ability of children with ASD than other-age faces.

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20. Thompson E, Feldman JI, Valle A, Davis H, Keceli-Kaysili B, Dunham K, Woynaroski T, Tharpe AM, Picou EM. A Comparison of Listening Skills of Autistic and Non-Autistic Youth While Using and Not Using Remote Microphone Systems. Journal of speech, language, and hearing research : JSLHR. 2023; 66(11): 4618-34.

OBJECTIVES: The purposes of this study were to compare (a) listening-in-noise (accuracy and effort) and (b) remote microphone (RM) system benefits between autistic and non-autistic youth. DESIGN: Groups of autistic and non-autistic youth that were matched on chronological age and biological sex completed listening-in-noise testing when wearing and not wearing an RM system. Listening-in-noise accuracy and listening effort were evaluated simultaneously using a dual-task paradigm for stimuli varying in type (syllables, words, sentences, and passages). Several putative moderators of RM system effects on outcomes of interest were also evaluated. RESULTS: Autistic youth outperformed non-autistic youth in some conditions on listening-in-noise accuracy; listening effort between the two groups was not significantly different. RM system use resulted in listening-in-noise accuracy improvements that were nonsignificantly different across groups. Benefits of listening-in-noise accuracy were all large in magnitude. RM system use did not have an effect on listening effort for either group. None of the putative moderators yielded effects of the RM system on listening-in-noise accuracy or effort for non-autistic youth that were significant and interpretable, indicating that RM system benefits did not vary according to any of the participant characteristics assessed. CONCLUSIONS: Contrary to expectations, autistic youth did not demonstrate listening-in-noise deficits compared to non-autistic youth. Both autistic and non-autistic youth appear to experience RM system benefits marked by large gains in listening-in-noise performance. Thus, the use of this technology in educational and other noisy settings where speech perception needs enhancement might be beneficial for both groups of children.

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21. Wanniachchi PM, Sumanasena SP. A short report on a preliminary interventional study to evaluate play-mediated interaction skills in caregivers of children with autism spectrum disorder from Sri Lanka. Autism : the international journal of research and practice. 2023: 13623613231211370.

Most children with autism spectrum disorder live in low- and middle-income countries. Most of them do not have access to timely and culturally acceptable interventions. Research from high-income countries and low- and middle-income countries, such as Sri Lanka, show that parent-mediated intervention programmes improve functional outcomes, highlighting the importance of parents as partners. We undertook a preliminary study to evaluate how play-based parent coaching will enhance the parent interaction skills to promote social-emotional, cognitive and language skills in children with autism spectrum disorder aged 2-4 years. We evaluated how parents acquire interaction skills to engage with children using a caregiver skills assessment checklist adapted from freely accessible resources. Before and after training, all parent-child dyads participated in a 10-min video-recorded play session with a set of toys of their choice. Over the course of 2 weeks, all parents spent 2 h/day playing and interacting with the child to harness the desired skills. The results showed that the parental training had a positive effect on all 30 caregivers in gaining skills, with a significant improvement in all three domains with the highest impact on skills for social-emotional development. Overall, parents reported high levels of satisfaction on the training. The significant improvement in parent interaction skills was promising. However, further studies to look at the sustainability of the skills and the impact on children’s overall development need to be looked into using larger and more generalised studies.

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22. Williams J, Royer J, Lauer E, Kurth NK, Horner-Johnson W, McDermott S, Levy A, Hall JP. Injury-related emergency department use among people with intellectual and developmental disabilities insured by Medicaid from 2010 to 2016. Injury prevention : journal of the International Society for Child and Adolescent Injury Prevention. 2023.

OBJECTIVES: Data on non-fatal injuries and visits to the emergency department (ED) for injuries are not readily available. The objective of this paper is to describe injury-related ED visits for people with intellectual and developmental disabilities who are covered by the Medicaid insurance programme. METHODS: We aggregated 2010-2016 Medicaid claims data from eight states. Using these data, we identified individuals with intellectual and developmental disabilities and then determined an all-cause ED visit rate, ED visit due to injury rate and admission from ED due to injury rate. Data were stratified by sex and age group. Results were compared with national rates. RESULTS: Medicaid members with intellectual and developmental disabilities visited EDs at approximately 1.8 times the rate of the general population. The ED visit rate due to injury was approximately 1.5 times that observed in the population overall. When ED visits due to injury data were stratified by age and sex, the largest discrepancy was observed in women ages 45-64, who visited EDs due to injury at a rate 2.1 times that of women of the same age in the general population. The admission rate from ED due to injury increased over the study period most notably in the older age groups. CONCLUSIONS: While rates and patterns of ED utilisation among Medicaid members with intellectual and developmental disabilities vary by age and gender, our findings suggest this group visits the ED due to injury at rates well above the general population.

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23. Zhu G, Li Y, Wan L, Sun C, Liu X, Zhang J, Liang Y, Liu G, Yan H, Li R, Yang G. Divergent electroencephalogram resting-state functional network alterations in subgroups of autism spectrum disorder: a symptom-based clustering analysis. Cerebral cortex (New York, NY : 1991). 2023.

Autism spectrum disorder (ASD) is characterized by etiological and phenotypic heterogeneity. Despite efforts to categorize ASD into subtypes, research on specific functional connectivity changes within ASD subgroups based on clinical presentations is limited. This study proposed a symptom-based clustering approach to identify subgroups of ASD based on multiple clinical rating scales and investigate their distinct Electroencephalogram (EEG) functional connectivity patterns. Eyes-opened resting-state EEG data were collected from 72 children with ASD and 63 typically developing (TD) children. A data-driven clustering approach based on Social Responsiveness Scales-Second Edition and Vinland-3 scores was used to identify subgroups. EEG functional connectivity and topological characteristics in four frequency bands were assessed. Two subgroups were identified: mild ASD (mASD, n = 37) and severe ASD (sASD, n = 35). Compared to TD, mASD showed increased functional connectivity in the beta band, while sASD exhibited decreased connectivity in the alpha band. Significant between-group differences in global and regional topological abnormalities were found in both alpha and beta bands. The proposed symptom-based clustering approach revealed the divergent functional connectivity patterns in the ASD subgroups that was not observed in typical ASD studies. Our study thus provides a new perspective to address the heterogeneity in ASD research.

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