1. Abdelrahman MA, Alhebsi MA, Almulla SI, Rahimi EA, Badouh H, Almehairbi A, Ghasem F, Rawashdeh M. Exploration of radiographers’ knowledge, attitudes, and practices in delivering healthcare to children with autism spectrum disorder. Radiography (London, England : 1995). 2023; 30(1): 116-22.

INTRODUCTION: Autism Spectrum Disorder (ASD) poses unique challenges in healthcare settings, including radiographic examinations. This study aimed to assess the knowledge, attitudes, and practices (KAP) of radiographers in the United Arab Emirates (UAE) towards ASD children, a population with increased healthcare needs. METHODS: A cross-sectional survey was conducted online, targeting radiographers across the UAE. The instrument utilized was a comprehensive and validated self-administered questionnaire developed based on relevant literature. The questionnaire incorporated sections to gauge radiographers’ knowledge about ASD, their attitudes towards working with ASD children, and their adherence to recommended practices during radiographic examinations. Descriptive and inferential statistics were employed to describe KAP and identify any influencing factors. RESULTS: Radiographers demonstrated a moderate level of knowledge regarding ASD. Despite the knowledge, misconceptions about ASD nature were common. The radiographers generally acknowledged the need for special care for ASD children during radiographic procedures. High confidence in working with ASD children was noted, particularly among older participants, despite a clear interest in further training. Good adherence to recommended practices was observed, with physical restraints not being a common practice. However, areas for improvement were identified, such as the use of visual aids. CONCLUSION: Despite a moderate level of knowledge and good practices, there is a need to improve UAE radiographers’ understanding and handling of ASD children. IMPLICATIONS FOR PRACTICE: This study highlights the need for enhancing ASD-specific knowledge and training and integrating supportive tools in radiographic procedures. This comprehensive approach could significantly improve the radiographic service quality for ASD children in the UAE.

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2. Ai W, Cunningham WA, Lai MC. The dimensional structure of the Camouflaging Autistic Traits Questionnaire (CAT-Q) and predictors of camouflaging in a representative general population sample. Comprehensive psychiatry. 2023; 128: 152434.

OBJECTIVES: Some autistic people « camouflage » their differences by modeling neurotypical behaviors to survive in a neurotypical-dominant social world. It remains elusive whether camouflaging is unique to autism or if it entails similar experiences across human groups as part of ubiquitous impression management (IM). Here we examined camouflaging engagement and theoretical drivers in the general population, drawing on the transactional IM framework and contextualizing findings within both contemporary autism research and the past IM literature. METHODS: A large representative U.S. general population sample (N = 972) completed this survey study. We combined exploratory item factor analysis and graph analysis to triangulate the dimensional structure of the Camouflaging Autistic Traits Questionnaire (CAT-Q) and examined its correspondence with prior autism-enriched psychometric findings. We then employed hierarchical regression and elastic-net regression to identify the predictors of camouflaging, including demographic (e.g., age, gender), neurodivergence (i.e., autistic and ADHD traits), socio-motivational, and cognitive factors. RESULTS: We found a three-factor/dimensional structure of the CAT-Q in the general population, nearly identical to that found in previous autism-enriched samples. Significant socio-motivational predictors of camouflaging included greater social comparison, greater public self-consciousness, greater internalized social stigma, and greater social anxiety. These camouflaging drivers overlap with findings in recent autistic camouflaging studies and prior IM research. CONCLUSIONS: The novel psychometric and socio-motivational evidence demonstrates camouflaging as a shared social coping experience across the general population, including autistic people. This continuity guides a clearer understanding of camouflaging and has key implications for autism scholars, clinicians, and the broader clinical intersecting with social psychology research. Future research areas are mapped to elucidate how camouflaging/IM manifests and functions within person-environment transactions across social-identity and clinical groups.

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3. Bortoletto R, Bassani L, Garzitto M, Lamberti M, Simonati A, Darra F, Bhattacharyya S, Comacchio C, Balestrieri M, Arcangeli D, Colizzi M. Risk of psychosis in autism spectrum disorder individuals exposed to psychosocial stressors: A 9-year chart review study. Autism research : official journal of the International Society for Autism Research. 2023.

Psychosocial stressors have been suggested to precipitate psychotic episodes in patients with pre-existing psychosis and otherwise healthy subjects. However, such a risk has never been formally investigated in individuals with autism spectrum disorder (ASD). Sixty-nine autistic adolescents hospitalized for psychotic/manic symptoms (PSY) and other mental health issues (NPSY) over a 9-year period were compared with reference to their previous exposure to psychosocial stressors. ASD diagnoses satisfied the International Classification of Diseases (ICD)-10 criteria. Psychotic/manic symptom assessment followed the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS). Psychosocial stressor exposure was collected separately at each admission. Preliminarily, univariate between-group comparisons were conducted. Then, a binomial model was adopted to investigate associations with previous exposure to psychosocial stressors. Results were reported with a change in AIC (ΔAIC). PSY patients presented with higher previous exposure to adverse life events (30.43% vs. 6.52%, OR = 6.079 [1.209, 40.926], p = 0.013) and school/work difficulties (30.43% vs. 8.70%, OR = 4.478 [0.984, 23.846], p = 0.034) than NPSY ones. Admissions for psychotic/manic symptoms occurred more likely in the context of family disturbances (OR = 2.275 [1.045, 5.045], p = 0.030) and adverse life events (OR = 3.489 [1.194, 11.161], p = 0.014). The fitted binomial model was found to be significant compared to the random effects model (ΔAIC = -1.962; χ(2) (10)  = 21.96, p = 0.015), with the risk of presenting psychotic/manic symptoms being increased by family disturbances (z = +4.118) and school/work difficulties (z = +2.455). The results suggest a potential psychosis-inducing effect of psychosocial stressors in ASD, which has clinical and policy implications.

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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. Esmaeilzadeh Kanafgourabi SN, Shabani M, Mirchi Z, Aliyari H, Mahdavi P. The impact of ILF neurofeedback on inhibitory control in high-functioning adolescents with autism spectrum disorder: Preliminary evidence of a randomized controlled trial. Applied neuropsychology Child. 2023: 1-19.

BACKGROUND: Individuals with Autism Spectrum Disorder (ASD) often exhibit impairments in inhibitory control, which can impact their cognitive functioning. This study aimed to investigate the effectiveness of Infra-Low Frequency (ILF) neurofeedback in improving inhibitory control among high-functioning adolescents with ASD. METHODS: A single-blind, two-armed randomized controlled trial was conducted with 24 adolescents with ASD randomly divided into two groups (active and sham; n = 12 per group). Both groups participated in 15 sessions of one-hour ILF neurofeedback, three times per week. The ILF neurofeedback protocol was applied to the active group, while the sham group received an inactive intervention. Outcomes were measured at the pretest, post-test, and follow-up stages. RESULTS: ILF neurofeedback significantly improved inhibitory control in adolescents with ASD, as indicated by improvements in behavioral measures and absolute power analysis. The most significant differences were observed in alpha, theta, and gamma waves located in the central areas of the left gyrus. However, no significant effect was observed at the follow-up level on either behavioral measures or absolute power. CONCLUSION: The results suggest that ILF neurofeedback is effective in improving inhibitory control in high-functioning adolescents with ASD. This non-invasive intervention has the potential to improve inhibitory control in this population. However, future research is needed to determine the long-term effects of ILF neurofeedback.

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6. Hough D, Mao AR, Aman M, Lozano R, Smith-Hicks C, Martinez-Cerdeno V, Derby M, Rome Z, Malan N, Findling RL. Randomized clinical trial of low dose suramin intravenous infusions for treatment of autism spectrum disorder. Annals of general psychiatry. 2023; 22(1): 45.

BACKGROUND: There is a critical need for effective treatment of the core symptoms of autism spectrum disorder (ASD). The purinergic antagonist suramin may improve core symptoms through restoration of normal mitochondrial function and reduction of neuro-inflammation via its known antagonism of P2X and P2Y receptors. Nonclinical studies in fragile X knockout mice and the maternal immune activation model support these hypotheses. METHODS: We conducted a 14 week, randomized, double-blind, placebo-controlled proof -of-concept study (N = 52) to test the efficacy and safety of suramin intravenous infusions in boys aged 4-15 years with moderate to severe ASD. The study had 3 treatment arms: 10 mg/kg suramin, 20 mg/kg suramin, and placebo given at baseline, week 4, and week 8. The Aberrant Behavior Checklist of Core Symptoms (ABC-Core) (subscales 2, 3, and 5) was the primary endpoint and the Clinical Global Impressions-Improvement (CGI-I) was a secondary endpoint. RESULTS: Forty-four subjects completed the study. The 10 mg/kg suramin group showed a greater, but statistically non-significant, numeric improvement (- 12.5 ± 3.18 [mean ± SE]) vs. placebo (- 8.9 ± 2.86) in ABC-Core at Week 14. The 20 mg/kg suramin group did not show improvement over placebo. In exploratory analyses, the 10 mg/kg arm showed greater ABC Core differences from placebo in younger subjects and among those with less severe symptoms. In CGI-I, the 10 mg/kg arm showed a statistically significant improvement from baseline (2.8 ± 0.30 [mean ± SE]) compared to placebo (1.7 ± 0.27) (p = 0.016). The 20 mg/kg arm had a 2.0 ± 0.28 improvement in CGI-I, which was not statistically significant compared to placebo (p = 0.65). CONCLUSION: Suramin was generally safe and well tolerated over 14 weeks; most adverse events were mild to moderate in severity. Trial Registration Registered with the South African Health Authority, registration number DOH-27-0419-6116. CLINICALTRIALS: Gov registration ID is NCT06058962, last update posted 2023-09-28.

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7. Jing J, Klugah-Brown B, Xia S, Sheng M, Biswal BB. Comparative analysis of group information-guided independent component analysis and independent vector analysis for assessing brain functional network characteristics in autism spectrum disorder. Frontiers in neuroscience. 2023; 17: 1252732.

INTRODUCTION: Group information-guided independent component analysis (GIG-ICA) and independent vector analysis (IVA) are two methods that improve estimation of subject-specific independent components in neuroimaging studies. These methods have shown better performance than traditional group independent component analysis (GICA) with respect to intersubject variability (ISV). METHODS: In this study, we compared the patterns of community structure, spatial variance, and prediction performance of GIG-ICA and IVA-GL, respectively. The dataset was obtained from the publicly available Autism Brain Imaging Data Exchange (ABIDE) database, comprising 75 healthy controls (HC) and 102 Autism Spectrum Disorder (ASD) participants. The greedy rule was used to match components from IVA-GL and GIG-ICA in order to compare the similarities between the two methods. RESULTS: Robust correspondence was observed between the two methods the following networks: cerebellum network (CRN; |r| = 0.7813), default mode network (DMN; |r| = 0.7263), self-reference network (SRN; |r| = 0.7818), ventral attention network (VAN; |r| = 0.7574), and visual network (VSN; |r| = 0.7503). Additionally, the Sensorimotor Network demonstrated the highest similarity between IVA-GL and GIG-ICA (SOM: |r| = 0.8125). Our findings revealed a significant difference in the number of modules identified by the two methods (HC: p < 0.001; ASD: p < 0.001). GIG-ICA identified significant differences in FNC between HC and ASD compared to IVA-GL. However, in correlation analysis, IVA-GL identified a statistically negative correlation between FNC of ASD and the social total subscore of the classic Autism Diagnostic Observation Schedule (ADOS: pi = -0.26, p = 0.0489). Moreover, both methods demonstrated similar prediction performances on age within specific networks, as indicated by GIG-ICA-CRN (R(2) = 0.91, RMSE = 3.05) and IVA-VAN (R(2) = 0.87, RMSE = 3.21). CONCLUSION: In summary, IVA-GL demonstrated lower modularity, suggesting greater sensitivity in estimating networks with higher intersubject variability. The improved age prediction of cerebellar-attention networks underscores their importance in the developmental progression of ASD. Overall, IVA-GL may be appropriate for investigating disorders with greater variability, while GIG-ICA identifies functional networks with distinct modularity patterns.

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8. 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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9. Levy RS, Fipp-Rosenfield HL, Lee JP, Grauzer JM, Roberts MY. Understanding Internalizing and Externalizing Behaviors in Autistic Toddlers. American journal of speech-language pathology. 2023; 32(6): 2908-21.

PURPOSE: The majority of autistic toddlers present with clinically significant levels of internalizing or externalizing behaviors. Despite the prevalence of internalizing and externalizing behaviors in caseloads, the overwhelming majority of speech-language pathologists (SLPs) have not received specialized instruction in how to support children with these behaviors. The purpose of this study was to identify which child and caregiver characteristics are most associated with internalizing and externalizing behaviors in autistic toddlers in order to consider how SLPs may tailor their treatment to better support the individual needs of autistic children. METHOD: Participants included 109 mothers and their autistic children between 18 and 48 months of age. This study was a secondary analysis of data from a randomized clinical trial. Participants’ baseline data included a variety of child (i.e., expressive language, receptive language, restricted and repetitive behavior [RRB], and nonverbal cognition) and caregiver (i.e., self-efficacy and responsiveness) characteristics. Seemingly unrelated regressions were conducted to determine which characteristics were associated with internalizing and externalizing behaviors in autistic toddlers. RESULTS: Higher RRB scores were associated with both higher internalizing and externalizing behavior scores. A lower nonverbal cognition score was also associated with higher internalizing behavior scores but to a lesser extent than RRB. CONCLUSION: These findings suggest that SLPs may support internalizing and externalizing behaviors in autistic children by taking RRBs and nonverbal cognition into consideration.

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10. Li X, Feng T, Lu W. The effects of valproic acid neurotoxicity on aggressive behavior in zebrafish autism model. Comparative biochemistry and physiology Toxicology & pharmacology : CBP. 2023; 275: 109783.

Valproic acid (VPA) is an effective drug, which is preferred for the treatments of epilepsy and various kinds of seizures. Nonetheless, VPA has many side effects associated with autism spectrum disorder (ASD). Therefore, we conducted molecular and behavior tests in adult proactive zebrafish after VPA exposure to investigate gene transcription changes, social behavior, aggression, anxiety and locomotion. Our findings revealed that VPA exposure generates ASD-like phenotypes and behaviors: genes associated with autism, such as adsl, mbd5 and shank3a altered; social interaction deficit. Further behavioral patterns suggest that VPA exposure induces decreases in aggression and increases the anxiety behavior and body cortisol significantly. VPA exposure did not affect locomotor activity in zebrafish. Additionally, we used correlative analyses to investigate the robustness between the ASD-related genes and the different behavior tests, results showed that ASD-related genes are negatively associated with aggressive behavior. Our study demonstrated that aggressive behavior assay is a better predictor of behavior for neurotoxicology of VPA.

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11. Luo T, Pan J, Zhu Y, Wang X, Li K, Zhao G, Li B, Hu Z, Xia K, Li J. Association between de novo variants of nuclear-encoded mitochondrial related genes and undiagnosed developmental disorder and autism. QJM : monthly journal of the Association of Physicians. 2023.

BACKGROUND: Evidence suggests that mitochondrial abnormalities increase the risk of two neurodevelopmental disorders: undiagnosed developmental disorder (UDD) and autism spectrum disorder (ASD). However, which nuclear-encoded mitochondrial-related genes (NEMGs) were associated with UDD-ASD is unclear. AIM: To explore the association between de novo variants of NEMGs and UDD-ASD. DESIGN: Comprehensive analysis based on de novo variants of NEMGs identified in patients (31,058 UDD probands and 10,318 ASD probands) and 4,262 controls. METHODS: By curating NEMGs and cataloging publicly published de novo variants (DNVs) in NEMGs, we compared the frequency of DNVs in cases and controls. We also applied a TADA-denovo model to highlight disease-associated NEMGs and characterized them based on gene intolerance, functional networks, and expression patterns. RESULTS: Compared with levels in 4,262 controls, an excess of protein-truncating variants (PTVs) and deleterious missense variants (Dmis) in 1,421 cataloged NEMGs from 41,376 patients (31,058 UDD and 10,318 ASD probands) was observed. Overall, 3.23% of de novo Dmis and 3.20% of de novo PTVs contributed to 1.1% and 0.39% of UDD-ASD cases, respectively. We prioritized 130 disease-associated NEMGs and showed distinct expression patterns in the developing human brain. Disease-associated NEMGs expression was enriched in both excitatory and inhibitory neuronal lineages from the developing human cortex. CONCLUSIONS: Rare genetic alterations of disease-associated NEMGs may play a role in UDD-ASD development and lay the groundwork for a better understanding of the biology of UDD-ASD.

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12. Mohan K, Omar BJ, Chacham S, Bharti A. Perinatal Exposure to Trace Elements: The Dubious Culprit of Autistic Spectrum Disorder in Children. Current pediatric reviews. 2023.

There is evidence that few trace elements in the environment work as hazardous materials in terms of their exposure in the perinatal period, causing autistic spectrum disorder (ASD) in children, and avoiding these exposures in the environment can reduce the number of new cases. This perspective study provides preliminary evidence to consider a few trace elements as culprits for ASD. More studies with larger cohorts are needed, but meanwhile, as per available evidence, exposure to these hazardous materials must be warranted during pregnancy and early stages of life.

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13. Monti M, Molholm S, Cuppini C. Atypical development of causal inference in autism inferred through a neurocomputational model. Frontiers in computational neuroscience. 2023; 17: 1258590.

In everyday life, the brain processes a multitude of stimuli from the surrounding environment, requiring the integration of information from different sensory modalities to form a coherent perception. This process, known as multisensory integration, enhances the brain’s response to redundant congruent sensory cues. However, it is equally important for the brain to segregate sensory inputs from distinct events, to interact with and correctly perceive the multisensory environment. This problem the brain must face, known as the causal inference problem, is strictly related to multisensory integration. It is widely recognized that the ability to integrate information from different senses emerges during the developmental period, as a function of our experience with multisensory stimuli. Consequently, multisensory integrative abilities are altered in individuals who have atypical experiences with cross-modal cues, such as those on the autistic spectrum. However, no research has been conducted on the developmental trajectories of causal inference and its relationship with experience thus far. Here, we used a neuro-computational model to simulate and investigate the development of causal inference in both typically developing children and those in the autistic spectrum. Our results indicate that higher exposure to cross-modal cues accelerates the acquisition of causal inference abilities, and a minimum level of experience with multisensory stimuli is required to develop fully mature behavior. We then simulated the altered developmental trajectory of causal inference in individuals with autism by assuming reduced multisensory experience during training. The results suggest that causal inference reaches complete maturity much later in these individuals compared to neurotypical individuals. Furthermore, we discuss the underlying neural mechanisms and network architecture involved in these processes, highlighting that the development of causal inference follows the evolution of the mechanisms subserving multisensory integration. Overall, this study provides a computational framework, unifying causal inference and multisensory integration, which allows us to suggest neural mechanisms and provide testable predictions about the development of such abilities in typically developed and autistic children.

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14. Morožin Pohovski L, Sansović I, Vulin K, Odak L. The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents. Croatian medical journal. 2023; 64(5): 339-43.

Recurrent copy number variants in the chromosomal region 16p11.2 are among the most frequent genetic causes of neurodevelopmental disorders. The increasing prevalence of brain structural anomalies is also associated with 16p11.2 deletions and duplications. We report on a four-year-old boy with microcephaly, trigonocephaly, and dysmorphic features. The patient also exhibited motor delay and autism spectrum disorder. Microarray analysis showed a single-copy gain of a 1.187 kb segment in the 16p12.1p11.2 region and a two-copy gain of a 525 kb segment in the 16p11.2 region. Parental analysis revealed a 1.7 Mb duplication at the 16p12.1p11.2 (BP1-BP5 region) in the father and a 525 kb duplication in the 16p11.2 region (BP4-BP5) in the mother. The patient inherited the entire abnormality from each parent and, as a result, presented with partial trisomy of the 16p12.1p11.2 region and partial tetrasomy of the 16p11.2 region. The MLPA P343 Autism-1 Probemix was used to verify the copy number gains in the 16p11.2 region detected by chromosomal microarray analysis. Double duplications are very rare chromosomal rearrangements. The phenotype for distal 16p12.1p11.2 trisomy (BP1-BP3) and proximal 16p11.2 (BP4-BP5) tetrasomy is unknown. To our knowledge, this is the first patient described in the literature who inherited 16p11.2 duplications from both parents.

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15. Muldoon DM, Gray R. Teaching Receptive Vocabulary to Minimally Verbal Preschoolers With Autism Spectrum Disorder: A Single-Case Multiple Baseline Design. American journal of speech-language pathology. 2023; 32(6): 3036-47.

PURPOSE: The purpose of this multiple probe design was (a) to investigate whether the use of the match-to-sample (MtS) procedure would result in independent identification of objects and (b) to examine whether the participants could generalize to matching objects and nonidentical pictures. METHOD: Using a nonconcurrent multiple baseline design, three minimally verbal preschoolers with autism spectrum disorder and receptive language impairment were taught to identify common objects using a MtS procedure and physical prompts. Participants were taught to match identical objects to identical pictures. Maintenance checks were completed following mastery of vocabulary for a total of 22 words. Generalization probes were conducted with the objects and nonidentical pictures. Intervention was completed by a speech-language pathologist during typical speech-language pathology sessions. RESULTS: Results illustrated that all of the participants learned to match and generalize the pictures. All were able to independently identify the objects at 1-month follow-up. CONCLUSIONS: MtS and prompting appear to be effective procedures for teaching receptive vocabulary and can be easily implemented by education professionals. Learner profiles varied for the participants in this study and are an important aspect when teaching students with autism spectrum disorder and co-occurring receptive language impairment.

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16. Odak L, Vulin K, Meašić AM, Šamadan L, Tripalo Batoš A. Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report. Croatian medical journal. 2023; 64(5): 334-8.

Neurodevelopmental disorders are a large group of disorders that affect ~ 3% of children and represent a serious health problem worldwide. Their etiology is multifactorial and includes genetic, epigenetic, and environmental causes. Mounting evidence shows the importance of genetic causes, especially genes involved in the central nervous system development. As recently discovered, the KMT5B gene is related to abnormal activities of the enzymes that regulate histone activity and gene expression during brain development. Pathogenic KMT5B gene variants lead to autosomal dominant, intellectual developmental disorder 51 (OMIM # 617788). Also, reports on patients with additional features suggest that the KMT5B gene alterations lead to multisystem involvement. Here, we report on a male patient with a severe neurodevelopmental disorder caused by a novel KMT5B gene variant inherited from his mother. The patient had severe intellectual disability, absent speech, marked autistic behavior, attention deficit hyperactivity disorder, and different clinical features, including thoracic scoliosis, dysmorphic facial features, and tall stature. In contrast, his mother, with the same KMT5B variant, had mild intellectual disability and some autistic traits (stereotype hand movement). We elucidated pathogenetic mechanisms that could influence phenotype characteristics. Our findings emphasize the importance of a comprehensive clinical and molecular approach to these patients in order to provide optimal health care.

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17. Ozbek SU, Sut E, Bora E. Comparison of social cognition and neurocognition in schizophrenia and autism spectrum disorder: A systematic review and meta-analysis. Neuroscience and biobehavioral reviews. 2023; 155: 105441.

BACKGROUND: This report aimed to compare group differences in social and non-social cognition in autism spectrum disorders (ASD) and schizophrenia, and examine the influence of age and other factors on group differences. METHODS: Literature searches were conducted in Pubmed and Web of Science from January 1980 to August 2022. Original research articles reporting objective measures of cognition were selected. RESULTS: 57 articles involving 1864 patients with schizophrenia and 1716 patients with ASD have been included. Schizophrenia was associated with more severe non-social-cognitive impairment, particularly in fluency (g=0.47;CI[0.17-0.76]) and processing speed domains (g=0.41;CI[0.20-0.62]). Poorer performance in social cognition (Z = 3.68,p = 0.0002) and non-social cognition (Z = 2.48,p = 0.01) in schizophrenia were significantly related to older age. ASD was associated with more severe social cognitive impairment when groups were matched for non-social-cognition (g=-0.18, p = 0.04) or reasoning/problem solving (g=-0,62; CI [-1,06-(-0.08)]. DISCUSSION: While both disorders present with social and non-social cognitive impairments, the pattern and developmental trajectories of these deficits are different. The limitations included heterogeneity of the cognitive measures, and the lack of sufficient information about antipsychotic use.

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18. 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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19. Sharma AR, Batra G, Dhir N, Jain A, Modi T, Saini L, Thakur N, Mishra A, Singh RS, Singh A, Singla R, Prakash A, Goyal M, Bhatia A, Medhi B, Modi M. « Comparative evaluation of different chemical agents induced Autism Spectrum Disorder in experimental Wistar rats ». Behavioural brain research. 2023: 114728.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with uncertain etiology and pathophysiology. Several studies revealed that the commonly used animal models like Valproic Acid (VPA) and Propionic Acid (PPA) do not precisely represent the disease as the human patient does. The current study was conducted on different chemically (VPA, PPA, Poly I:C, Dioxin (2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD)) & Chlorpyrifos (CPF)) induced ASD-like animal models and validated the best suitable experimental animal model, which would closely resemble with clinical features of the ASD. This validated model might help to explore the pathophysiology of ASD. This study included rat pups prenatally exposed to VPA, PPA, Poly I:C, Dioxin & CPF within GD9 to GD15 doses. The model groups were validated through developmental and behavioral parameters, Gene Expressions, Oxidative Stress, and Pro-inflammatory and Anti-inflammatory cytokines levels. Developmental and neurobehavioral parameters showed significant changes in model groups compared to the control. In oxidative stress parameters and neuro-inflammatory cytokines levels, model groups exhibited high oxidative stress and neuro-inflammation compared to control groups. Gene expression profile of ASD-related genes showed significant downregulation in model groups compared to the control group. Moreover, the Poly I:C group showed more significant results than other model groups. The comparison of available ASD-like experimental animal models showed that the Poly I:C induced model represented the exact pathophysiology of ASD as the human patient does. Poly I:C was reported in the maternal immune system activation via the inflammatory cytokines pathway, altering embryonic development and causing ASD in neonates.

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20. Smith AM, Donley ELR, Ney DM, Amaral DG, Burrier RE, Natowicz MR. Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics. Frontiers in psychiatry. 2023; 14: 1249578.

Autism Spectrum Disorder (ASD or autism) is a phenotypically and etiologically heterogeneous condition. Identifying biomarkers of clinically significant metabolic subtypes of autism could improve understanding of its underlying pathophysiology and potentially lead to more targeted interventions. We hypothesized that the application of metabolite-based biomarker techniques using decision thresholds derived from quantitative measurements could identify autism-associated subpopulations. Metabolomic profiling was carried out in a case-control study of 499 autistic and 209 typically developing (TYP) children, ages 18-48 months, enrolled in the Children’s Autism Metabolome Project (CAMP; ClinicalTrials.gov Identifier: NCT02548442). Fifty-four metabolites, associated with amino acid, organic acid, acylcarnitine and purine metabolism as well as microbiome-associated metabolites, were quantified using liquid chromatography-tandem mass spectrometry. Using quantitative thresholds, the concentrations of 4 metabolites and 149 ratios of metabolites were identified as biomarkers, each identifying subpopulations of 4.5-11% of the CAMP autistic population. A subset of 42 biomarkers could identify CAMP autistic individuals with 72% sensitivity and 90% specificity. Many participants were identified by several metabolic biomarkers. Using hierarchical clustering, 30 clusters of biomarkers were created based on participants’ biomarker profiles. Metabolic changes associated with the clusters suggest that altered regulation of cellular metabolism, especially of mitochondrial bioenergetics, were common metabolic phenotypes in this cohort of autistic participants. Autism severity and cognitive and developmental impairment were associated with increased lactate, many lactate containing ratios, and the number of biomarker clusters a participant displayed. These studies provide evidence that metabolic phenotyping is feasible and that defined autistic subgroups can lead to enhanced understanding of the underlying pathophysiology and potentially suggest pathways for targeted metabolic treatments.

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21. van Niekerk K, Stancheva V, Smith C. Caregiver burden among caregivers of children with autism spectrum disorder. The South African journal of psychiatry : SAJP : the journal of the Society of Psychiatrists of South Africa. 2023; 29: 2079.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with deficits in social communication and interaction, restricted and repetitive patterns of behaviour, interests and activities. Autism spectrum disorder is associated with multiple comorbidities. As a result, caregivers of children with ASD experience increased levels of burden and poor quality of life. However, there is a paucity of information on the burden. AIM: The study aimed to describe the sociodemographic profiles and determine the extent of the burden experienced by caregivers of children and adolescents with ASD. SETTING: The Child, Adolescent and Family Unit (CAFU) outpatient services at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH). METHODS: A quantitative, descriptive, cross-sectional study was done. Two self-administered questionnaires were used: a sociodemographic questionnaire and the 12-item Zarit Burden Interview questionnaire. RESULTS: The questionnaires were completed by 77 caregivers, of which the majority were female (n = 56 or 72.3%), mothers to children with ASD (n = 49 or 64.3%) and identified as Christian (p < 0.001). Most had completed secondary school or had a tertiary education (p = 0.003) and were employed (p < 0.001). Among the caregivers, 41.6% experienced mild to moderate burden, 33.8% experienced high burden and only 24.9% reported no to mild burden. CONCLUSION: Caregivers of children and adolescents with a diagnosis of ASD are mostly mothers and experience mild to moderate levels of caregiver burden, suggesting the need for improved screening and psychosocial support programmes. CONTRIBUTION: This study highlights the burden experienced by primary caregivers of children with ASD and is one of the few comprehensive studies on this issue within the context of South Africa.

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22. Vasselin I, Cilia F, Malpart A, Jamault B, Ammirati C. [Health simulation, access to somatic care for people with ASD]. Soins Psychiatrie. 2023; 44(349): 13-6.

The clinical characteristics of people with autism spectrum disorders can make it difficult for them to access care, including treatment and medical imaging examinations. Simulation-based learning can facilitate the performance of a CT scan, as in the case of Irène, who was able to adopt the expected body positions thanks to this intervention.

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