1. Alasmari M, Alduais A, Qasem F, Almaghlouth S, AlAmri L. Predicting language, cognition, and social skills in individuals with Autism spectrum disorder using the Arabic validation of Gilliam Autism Rating scale-Third Edition. Appl Neuropsychol Child. 2024: 1-14.

The Gilliam Autism Rating Scale-Third Edition (GARS-3) has emerged as a pivotal instrument in the diagnostic assessment of Autism Spectrum Disorder (ASD), with its utility extending across linguistic and cultural boundaries. This study endeavors to adapt and validate the GARS-3 for the Arabic-speaking population, addressing the paucity of culturally congruent diagnostic tools in the Arab world. The primary objective is to validate the Arabic version of GARS-3 (A-GARS-3) to assess children with and without ASD, ensuring the scale’s reliability and validity within the target population. A methodical cross-sectional study design was employed, encompassing a sample of 178 participants from both educational and clinical settings in Saudi Arabia. The process involved direct translation, expert panel review, back-translation, and pilot testing to ensure semantic equivalence and cultural relevance. Data were collected using the A-GARS-3, and analyses included Exploratory and Confirmatory Factor Analysis (EFA and CFA), internal consistency reliability measures, and a One-Way Analysis of Variance (ANOVA) to establish concurrent validity. The A-GARS-3 demonstrated high internal consistency (Cronbach’s alpha = 0.971; McDonald’s omega = 0.972) and strong construct validity, with factor loadings and model fit indices substantiating the factor structure. Predictive validity was confirmed through significant correlations between the Autism Index and the subscales, particularly in the domains of social interaction and communication. The A-GARS-3 is a psychometrically sound instrument that offers reliable assessment for ASD within the Arab cultural context. The positive validation outcomes indicate that the scale is an effective, culturally adapted tool for the localized diagnosis of ASD. The validated scale has significant implications for enhancing ASD screening and diagnostic practices in Arabic-speaking regions, potentially improving early diagnosis and intervention strategies.

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2. Bastan E, McGuinness R, Beck S, Surtees A. EXPRESS: Reasoning in Social versus Non-social Domains and its Relation to Autistic Traits. Q J Exp Psychol (Hove). 2024: 17470218241296090.

Enhanced rationality has been linked to higher levels of autistic traits, characterised by increased deliberation and decreased intuition, alongside reduced susceptibility to common reasoning biases. However, it is unclear whether this is domain-specific or domain-general. We aimed to explore whether reasoning tendencies differ across social and non-social domains in relation to autistic traits. We conducted two experiments (N1 = 72, N2 = 217) using a reasoning task with social and non-social scenario comparisons to evaluate the specific information participants used when making judgments about children, in the social domain, and objects, in the non-social domain. We consistently found a greater reliance on behaviour-based information in the non-social domain, compared to the social domain, indicating a more deliberative approach. In Experiment 1, we found a correlation between autistic traits and the proportion of behaviour-based information, suggesting a more deliberative approach, when making judgments about children, and not about objects. In Experiment 2, with a larger sample, shortened version of the reasoning task, and requests for written justification, we did not identify a significant correlation between these variables. With this study, we introduce a novel scenario-based reasoning task that systematically compares the social and non-social domains. Our findings highlight the complex nature of the relationship between reasoning style and autistic traits.

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3. Bury LAD, Fu S, Wynshaw-Boris A. Neuronal lineage tracing from progenitors in human cortical organoids reveals mechanisms of neuronal production, diversity, and disease. Cell Rep. 2024; 43(10): 114862.

The contribution of progenitor subtypes to generating the billions of neurons produced during human cortical neurogenesis is not well understood. We developed the cortical organoid lineage-tracing (COR-LT) system for human cortical organoids. Differential fluorescent reporter activation in distinct progenitor cells leads to permanent reporter expression, enabling the progenitor cell lineage of neurons to be determined. Surprisingly, nearly all excitatory neurons produced in cortical organoids were generated indirectly from intermediate progenitor cells. Additionally, neurons of different progenitor lineages were transcriptionally distinct. Isogenic lines made from an autistic individual with and without a likely pathogenic CTNNB1 variant demonstrated that the variant substantially altered the proportion of neurons derived from specific progenitor cell lineages, as well as the lineage-specific transcriptional profiles of these neurons, suggesting a pathogenic mechanism for this mutation. These results suggest individual progenitor subtypes play roles in generating the diverse neurons of the human cerebral cortex.

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4. Coffman M, Wells M, Schmitt LM, Reisinger DL, Horn PS, Shaffer RC. Telehealth regulating together pilot trial: emotion regulation intervention for autistic children and adolescents. Front Psychiatry. 2024; 15: 1401148.

INTRODUCTION: Autistic children and adolescents frequently experience emotion dysregulation, or difficulties with appropriately modifying their emotional reactions. Caregivers of autistic teens frequently seek psychotherapy support for navigating challenges associated with emotion dysregulation. During the COVID-19 pandemic, access to clinical services became limited, with interventions halted or transitioned into a telehealth format. METHODS: This study evaluates the feasibility, acceptability, and initial efficacy of a telehealth adaptation to an existing intervention for emotion dysregulation for children and teens with autism, Regulating Together. A within-subjects trial was conducted for Child (ages 8-12) and Teen groups (ages 13-18). The trial consisted of a 5-week-control lead-in period, a 5-week-intervention, and 5-and 10-weeks-post-intervention follow-ups. RESULTS: Twenty-eight youth with ASD + ED (n=13 Child and n=15 Teens, 71% male) participated. We observed a 93% retention rate across both groups. Improvements were found in reactivity, irritability, emotion and behavioral regulation, and flexibility immediately post-intervention and 10-weeks post-intervention in both groups. Additional improvements in dysphoria, cognitive regulation, and emotional control were observed in teens. DISCUSSION: Our results suggest promising improvements in ED through telehealth delivery of an emotion regulation intervention in autistic children and adolescents, along with possible improvements in accessibility of this intervention.

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5. Frisch M, Canale R, C LY, Barton ML. Autism or not? A case series of evaluation decision points in child and adolescent psychological assessment. Appl Neuropsychol Child. 2024: 1-12.

Increase in the incidence of autism spectrum disorders (ASD) and increased attention to symptoms of ASD in social media have contributed to a significant rise in referrals for neuropsychological assessment of possible ASD. Many practitioners lack specific training in the assessment of ASD and may avoid addressing these concerns, despite the frequency of those referrals. This paper reviews potential contributors to the rise in referrals and several related conditions which share some overlap with features of ASD. That is followed by descriptions of four school-aged children and adolescents referred for comprehensive evaluation of suspected ASD. The authors describe decision points in the diagnostic process for those with or without proficiency in ASD-specific testing and close with a series of recommendations for the assessment of clients with complex presentations referred for suspected ASD.

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6. Gentles SJ, McLaughlin J, Schneider MA. Stress among caregivers of autistic children: Conceptual analysis and verification using two qualitative datasets. PLoS One. 2024; 19(10): e0312391.

In this two-part study, we first present the results of a sub-analysis of empirical data from a large grounded theory study of caregivers’ (parents) navigating autism-related care. The purpose of this analysis was to develop a conceptual overview of stress and crisis. We then describe the results and feasibility of using a framework analysis approach to verify and extend this conceptual analysis using qualitative survey data from a comparable population. Finally, we compare the conceptual findings to existing stress theory. While the grounded theory analysis was not aimed at producing a full theory of stress, multiple key elements of the resulting conceptual overview are consistent with prior stress theory. A potentially novel contribution is the conceptualization of social-psychological stress as an evolving process metaphorically analogous to a physiological model of stress that accurately fitted caregivers’ experience. Specifically, it accounts for early empowering consequences of stress in terms of caregivers’ motivation and capacity for action, the progressive destructive consequences in terms of its effects on caregivers’ emotional and even physical well-being, and the evolving and nonlinear process of stress over the life course. The definition for crisis, meanwhile, acknowledges that different systems can be in crisis from the caregiver’s perspective, and that it can be triggered by progressive buildups of stress and not just acute major triggering events. The insights from this analysis have implications for improving support professionals’ sensitivity to the empirical caregiver-perspective realities of stress at a conceptual level, and for improving assessment of crisis specifically in this population. The framework analysis exercise demonstrated some utility of the qualitative survey data for verifying and extending this theoretical analysis, despite the limitations compared to in-depth interview data discussed. This has implications for improving the utilization of qualitative data often collected in survey research.

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7. Husmann J, Feller C, Ilen L, Schneider M. A Multi-Method Approach for the Identification of Social Functioning Profiles in Autistic Adolescents and Young Adults Without Intellectual Disability. J Autism Dev Disord. 2024.

Given the diverse nature of the autism spectrum and the complex, context-dependent nature of Social Functioning (SF), this study aims to delineate profiles of SF in young people with autism. Using a multi-method approach, it aims to gain a comprehensive understanding of social difficulties in people with ASD. This study also examines the co-occurrence of mental health issues within these profiles, which can exacerbate social impairments. This understanding is essential for designing interventions and support systems tailored to the specific needs of people with ASD. 49 autistic individuals aged 12 to 30, without intellectual disability were recruited. A combination of measures was used to thoroughly assess SF. Latent profile analysis was employed to identify distinct profiles of social functioning. A control group of 60 non-autistic people served as a reference for these profiles. Mental health difficulties were evaluated through clinical interviews and questionnaires. Two profiles of SF were identified, illustrating two ways of managing the cost of social interactions. Compared to controls, one was more socially withdrawn, spending more time alone, while the other spent a similar amount of time alone but interacted less with others. A different prevalence of mental health problems was observed within these profiles. This study highlighted two SF profiles in young people with ASD, revealing different approaches to managing social interactions. These results show that people with ASD do not have uniform strengths and difficulties of SF, and that mental health problems exert a significant influence on different aspects of SF.

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8. Isaev AB, Bychkov ML, Kulbatskii DS, Andreev-Andrievskiy AA, Mashkin MA, Shulepko MA, Shlepova OV, Loktyushov EV, Latanov AV, Kirpichnikov MP, Lyukmanova EN. Upregulation of cholinergic modulators Lypd6 and Lypd6b associated with autism drives anxiety and cognitive decline. Cell Death Discov. 2024; 10(1): 444.

Intellectual disability and autistic features are associated with chromosome region 2q23.q23.2 duplication carrying LYPD6 and LYPD6B genes. Here, we analyzed LYPD6 and LYPD6B expression in patients with different neuropsychiatric disorders. Increased LYPD6 and LYPD6B expression was revealed in autism and other disorders. To study possible consequences of Lypd6 and Lypd6b overexpression in the brain, we used a mouse model with intracerebroventricular delivery of recombinant analogs of these proteins. A two-week infusion evoked significant memory impairment and acute stress. Both modulators downregulated hippocampal and amygdala dendritic spine density. No changes in synaptic plasticity were observed. Intracerebroventricular administration by both proteins downregulated hippocampal expression of Lypd6, Lypd6b, and α7 nicotinic acetylcholine receptor (nAChR). Similar to Lypd6, Lypd6b targeted different nAChR subtypes in the brain with preferential inhibition of α7- and α4β2-nAChRs. Thus, increased Lypd6 and Lypd6b level in the brain are linked to cholinergic system depression, neuronal atrophy, memory decline, and anxiety.

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9. Jia M, Zhang J, Pan J, Hu F, Zhu Z. Benefits of exercise for children and adolescents with autism spectrum disorder: a systematic review and meta-analysis. Front Psychiatry. 2024; 15: 1462601.

BACKGROUND: Numerous experimental studies have shown that exercise can serve as an intervention with beneficial effects on children and adolescents with autism. However, a systematic review on the specific areas affected has not been conducted. METHODS: Preliminary research sources were obtained by searching four databases, and two researchers independently screened the literature that met the study criteria. The study was conducted under the guidelines of the Cochrane Handbook for Systematic Reviews of Interventions. RESULTS: 37 studies were included in the final analysis, of which 9 studies were quantitatively synthesized and 28 studies were qualitatively analyzed. Exercise interventions have positive effects on motor performance, cognitive function, individual and social relationships, behavioral problems, physical health, and brain function in children and adolescents with autism. The results of the meta-analysis indicate that exercise can effectively improve social skills [SMD=-0.53, 95%CI (-0.76, -0.3), P=0.000]. CONCLUSIONS: Long-term, regular, chronic exercise is beneficial for children and adolescents with autism, particularly in the area of social skills. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero PROSPERO, identifier CRD42024554530.

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10. Kemp E, Nikahd M, Howard M, Darragh A, Crasta JE. Improving water competency among children on the autism spectrum: the AquOTic randomized controlled trial. Front Pediatr. 2024; 12: 1473328.

INTRODUCTION: There is a critical need for evidence-based and manualized interventions targeting water competency including swim and water safety skills tailored to meet the needs of children on the autism spectrum, a group that is at a high risk of drowning. This study examined the efficacy of AquOTic-a 10-week occupational therapy-based aquatic intervention to improve water competency among children on the autism spectrum. METHODS: A total of 37 children on the autism spectrum (ages 5-9 years) were randomized to a waitlist control group (n = 24) or AquOTic intervention group (n = 37; 28 males). Blinded assessors administered the standardized Water Orientation Test-Alyn (WOTA) 1 and 2 and a Swim Skills Checklist to all participants pre- and post-AquOTic/control. Repeated measures mixed effects models were used to examine intervention effects. RESULTS: Average WOTA 1 scores increased significantly after participants received AquOTic (Δ = 5.7; 95% CI: 3.7-7.8; p < 0.001), and average WOTA 2 scores increased significantly after participants received AquOTic (Δ = 9.0; 95% CI: 5.7-12.3; p < 0.001). Average swim skills increased significantly after participants received AquOTic (Δ = 7.6; 95% CI: 5.3, 10.0; p < 0.001). CONCLUSION: Our results highlight the efficacy of AquOTic to improve water competency among children on the autism spectrum. Further research is needed to examine long-term effects, dosage requirements to achieve water competency, and the impact of aquatic therapy on other health outcomes. CLINICAL TRIALS REGISTRATION: clinicaltrials.gov, NCT05524753.

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11. Khan N, Plunk A, Zheng Z, Adiani D, Staubitz J, Weitlauf A, Sarkar N. Pilot study of a real-time early agitation capture technology (REACT) for children with intellectual and developmental disabilities. Digit Health. 2024; 10: 20552076241287884.

OBJECTIVE: Children and adolescents with intellectual and developmental disabilities (IDD), particularly those with autism spectrum disorder, are at increased risk of challenging behaviors such as self-injury, aggression, elopement, and property destruction. To mitigate these challenges, it is crucial to focus on early signs of distress that may lead to these behaviors. These early signs might not be visible to the human eye but could be detected by predictive machine learning (ML) models that utilizes real-time sensing. Current behavioral assessment practices lack such proactive predictive models. This study developed and pilot-tested real-time early agitation capture technology (REACT), a real-time multimodal ML model to detect early signs of distress, termed « agitations. » Integrating multimodal sensing, ML, and human expertise could make behavioral assessments for people with IDD safer and more efficient. METHODS: We leveraged wearable technology to collect behavioral and physiological data from three children with IDD aged 6 to 9 years. The effectiveness of the REACT system was measured using F1 score, assessing its usefulness at the time of agitation to 20s prior. RESULTS: The REACT system was able to detect agitations with an average F1 score of 78.69% at the time of agitation and 68.20% 20s prior. CONCLUSION: The findings support the use of the REACT model for real-time, proactive detection of agitations in children with IDD. This approach not only improves the accuracy of detecting distress signals that are imperceptible to the human eye but also increases the window for timely intervention before behavioral escalation, thereby enhancing safety, well-being, and inclusion for this vulnerable population. We believe that such technological support system will enhance user autonomy, self-advocacy, and self-determination.

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12. Liu L, Ye Q, Xing Y, Xu Y, Zhu H, Lv S, Zou X, Deng H. Early gesture development as a predictor of autism spectrum disorder in elevated-likelihood infants of ASD. BMC Psychiatry. 2024; 24(1): 710.

BACKGROUND: Gesture difficulties have been reported in later-born siblings of children with autism spectrum disorder (ASD). Careful observation of gesture development during the first two years of children at elevated likelihood (EL) of developing ASD may identify behavioral indicators that facilitate early diagnosis. METHODS: This study enrolled 47 EL infants and 27 low-likelihood (LL) infants to explore gesture developmental trajectories and the predictive value of gesture to expedite the early detection of core characteristics of ASD. Gesture frequency, communication function, and integration ability were observed and coded from a semi-structured assessment administered longitudinally across 9-19 months of age. We conducted the Autism Diagnostic Observation Schedule assessment at 18-19 months for ASD’s core characteristics. RESULTS: The development of joint attention (JA) gestures was slower in the EL than in the LL group. The trajectories of the two groups began to diverge at 14-18 months. Children who reached the diagnostic cutoff point for ASD showed reductions in social interaction gestures at 12-13 months, in gestures integrated with any two communication skills (G-M) at 15-16 months; and in gestures integrated with eye contact (G-E) at 18-19 months. Overall gesture and G-M integration were associated with an overall ADOS communication and social interaction score. CONCLUSIONS: The developmental trajectories of JA gestures of EL and LL children differed. G-M gestures represent early indicators that may be a predictor of ASD.

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13. Luglio DG, Kleeman MJ, Yu X, Lin JC, Chow T, Martinez MP, Chen Z, Chen JC, Eckel SP, Schwartz J, Lurmann F, McConnell R, Xiang AH, Rahman MM. Prenatal Exposure to Source-Specific Fine Particulate Matter and Autism Spectrum Disorder. Environ Sci Technol. 2024; 58(42): 18566-77.

In this study, associations between prenatal exposure to fine particulate matter (PM2.5) from 9 sources and development of autism spectrum disorder (ASD) were assessed in a population-based retrospective pregnancy cohort in southern California. The cohort included 318,750 mother-child singleton pairs. ASD cases (N = 4559) were identified by ICD codes. Source-specific PM2.5 concentrations were estimated from a chemical transport model with a 4 × 4 km(2) resolution and assigned to maternal pregnancy residential addresses. Cox proportional hazard models were used to estimate the hazard ratios (HR) of ASD development for each individual source. We also adjusted for total PM2.5 mass and in a separate model for all other sources simultaneously. Increased ASD risk was observed with on-road gasoline (HR [CI]: 1.18 [1.13, 1.24]), off-road gasoline (1.15 [1.12, 1.19]), off-road diesel (1.08 [1.05, 1.10]), food cooking (1.05 [1.02, 1.08]), aircraft (1.04 [1.01, 1.06]), and natural gas combustion (1.09 [1.06, 1.11]), each scaled to standard deviation increases in concentration. On-road gasoline and off-road gasoline were robust for other pollutant groups. PM2.5 emitted from different sources may have different impacts on ASD. The results also identify PM source mixtures for toxicological investigations that may provide evidence for future public health policies.

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14. Resende V, Woldesenbet S, Katayama E, Munir MM, Lima HA, Khalil M, Rawicz-Pruszyński K, Khan MMM, Waqar U, Mavani P, Endo Y, Pawlik TM. Association of Intellectual and Developmental Disabilities With Worse Outcomes After Surgical Treatment of Cancer. J Natl Compr Canc Netw. 2024: 1-7.

BACKGROUND: Patients with intellectual and developmental disabilities (IDD) face unique challenges resulting in disparities in their health care. We sought to define the effect that IDD had on achievement of a « textbook outcome » (TO) following a cancer operation among a nationally representative cohort of patients. METHODS: Data on patients who underwent surgery for a malignant indication, including lung, breast, liver, biliary tract, pancreas, and colorectal, between 2014 and 2020 were extracted from the 100% Medicare Standard Analytical Files database. The association of IDD with TO (defined as the absence of postoperative complications, extended length of stay, 90-day readmission, and 90-day mortality), expenditures, and discharge status was assessed using multivariable logistic regression. RESULTS: Among 500,472 Medicare beneficiaries, 4,326 (0.9%) with IDD had a cancer diagnosis (breast, n=481; lung, n=419; hepatobiliary, n=194; pancreas, n=145; colorectal, n=3,087). Although overall incidence of TO was 50.5%, patients with IDD were less likely to achieve a TO than those without (37.1% vs 50.6%, respectively; odds ratio [OR], 0.50; 95% CI, 0.46-0.53; P<.001). On multivariable regression, patients with IDD had higher odds of a postoperative complication (OR, 1.53; 95% CI, 1.43-1.64), extended length of stay (OR, 2.06; 95% CI, 1.93-2.21), 90-day readmission (OR, 1.15; 95% CI, 1.07-1.24), 90-day mortality (OR, 1.90; 95% CI, 1.70-2.13), and discharge to a skilled nursing facility (OR, 4.28; 95% CI, 3.97-4.62) (all P<.001). CONCLUSIONS: Patients with IDD had a much lower chance of a postoperative TO, as well as discharge to a nonhome setting. The data highlight the need to improve the care of patients with IDD to assure equitable oncologic surgical care.

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15. Sevin IB, Dogan N, Ozbaran NB. Characteristics of Individuals Losing Autism Diagnosis: A Comparative Study With Typically Developing and Autism Spectrum Disorder Individuals. Early Interv Psychiatry. 2024.

AIM: This study aims to reveal the characteristics of individuals who have lost an autism spectrum disorder (ASD) diagnosis and to evaluate their current psychiatric diagnoses. Additionally, the study aims to compare individuals who have lost ASD with typically developing (TD) individuals and those with ASD in terms of current psychopathology, functionality and sociodemographic and clinical variables. METHODS: The study included a total of 85 participants aged between 5 and 18, comprising 30 individuals who no longer meet the criteria for ASD (loss of autism diagnosis or LAD), 32 individuals with ASD and 23 TD individuals. While the sociodemographic data form and Childhood Autism Rating Scale (CARS) were completed by the clinician, the Autism Behavior Checklist (ABC) and Social Responsiveness Scale (SRS) were completed by the parents. RESULTS: It was found that the LAD group acquired speaking skills earlier, started special education sooner, received preschool education and physical exercise support for a longer duration and exhibited higher mental capacity and lower symptom severity compared to the ASD group. Moreover, 80% of the LAD group had at least one DSM-5 diagnosis. Scores on the ABC and SRS indicated a significant difference, with ASD > LAD > TD. CONCLUSIONS: Even if ASD regresses, individuals may still experience residual difficulties and remain at risk for other psychopathologies. Therefore, it is crucial to maintain monitoring and support processes.

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16. Shen C, Zhu X, Chang H, Li C, Hou M, Chen L, Lu C, Zhou Z, Ji M, Xu Z. The rebalancing of the immune system at the maternal-fetal interface ameliorates autism-like behavior in adult offspring. Cell Rep. 2024; 43(10): 114787.

Maternal immune activation (MIA) is critical for imparting neuropathology and altered behaviors in offspring; however, maternal-fetal immune cell populations have not been thoroughly investigated in MIA-induced autism spectrum disorders (ASDs). Here, we report the single-cell transcriptional landscape of placental cells in both PBS- and poly(I:C)-induced MIA dams. We observed a decrease in regulatory T (Treg) cells but an increase in the M1 macrophage population at the maternal-fetal interface in MIA dams. Based on the Treg-targeting approach, we investigate an immunoregulatory protein, the helminth-derived heat shock protein 90α (Sjp90α), that induces maternal Treg cells and subsequently rescues the autism-like behaviors in adult offspring. Furthermore, in vivo depletion of maternal macrophages attenuates placental inflammatory reaction and reverses behavioral abnormalities in adult offspring. Notably, Sjp90α induces CD4(+) T cell differentiation via scavenger receptor A (SR-A) on the macrophage in vitro. Our findings suggest a maternal Treg-targeted approach to alleviate MIA-induced autism-like behavior in adult offspring.

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17. Timmerman A, Totsika V, Lye V, Crane L, Linden A, Pellicano E. Quality-of-life measurement in randomised controlled trials of mental health interventions for autistic adults: A systematic review. Autism. 2024: 13623613241287586.

Autistic people are more likely to have health problems than the general population. They, and people who care about them, have said mental health research is very important, and some autistic adults have said quality of life is the most helpful area to research when focusing on mental health. Autistic people should also be more deeply involved in making decisions in research. Our review aimed to find out if and how quality of life is being measured when mental health treatments are being tested, and how autistic people and the wider autism community are involved in these studies. We searched four databases and other sources and found over 10,000 records. But just 19 research studies were testing mental health treatments for autistic adults, and only five of those measured quality of life. When they did measure quality of life, it was measured in different ways and there was not much information given on how communities were involved. We suggest mental health research should measure quality of life more often and in ways that are more helpful for autistic people. Our analysis found that mental health research needs to include a wider variety of autistic people, and autistic people should be more involved in the various parts of research.

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18. Vallese A, Cordone V, Ferrara F, Guiotto A, Gemmo L, Cervellati F, Hayek J, Pecorelli A, Valacchi G. NLRP3 inflammasome-mitochondrion loop in autism spectrum disorder. Free Radic Biol Med. 2024; 225: 581-94.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behavior. To date, no single cause has been demonstrated but both genetic and environmental factors are believed to be involved in abnormal brain development. In recent years, immunological and mitochondrial dysfunctions acquired particular interest in the study of the molecular mechanisms underlying the pathophysiology of ASD. For this reason, our study focused on evaluating the mitochondrial component and activation of the NLRP3 inflammasome, a critical player of the innate immune system. The assembly of NLRP3 with ASC mediates activation of Caspase-1, which in turn, by proteolytic cleavage, activates Gasdermin D and the proinflammatory cytokines IL-1β/IL-18 with their subsequent secretion. Using primary fibroblasts of autistic and control patients we studied basal and stimulated conditions. Specifically, LPS and ATP were used to activate the NLRP3 inflammasome and MCC950 for its inhibition. In addition, FCCP was used as a mitochondrial stressor and MitoTEMPO as a scavenger of mitochondrial ROS. Our results showed a hyperactivation of NLRP3 inflammasome in ASDs, as evidenced by the co-localization of the two main components, NLRP3 and ASC, by the higher levels of ASC specks, oligomers and dimers and by the increased amounts of active Caspase-1 and IL-1β. In addition, increased mitochondrial superoxide anion and reduced mitochondrial membrane potential were detected in ASD cells. These data are in accordance with the abnormal mitochondrial morphology evidenced by transmission electron microscopy analysis. Interestingly, NLRP3 inflammasome inhibition with MCC950 improved mitochondrial parameters, while the use of MitoTEMPO, in addition to decrease mitochondrial ROS production, was able to prevent NLRP3 inflammasome activation suggesting for the first time an abnormal bidirectional crosstalk between mitochondria and NLRP3 inflammasome in ASD.

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19. Yi T, Liu Y, Wei W, He S, Jin K. Microstructural abnormalities of the right hemisphere in preschool autism spectrum disorders. J Psychiatr Res. 2024; 180: 258-64.

BACKGROUND: This study aims to investigate microstructural abnormalities within and between hemispheres in preschool children with autism spectrum disorders (ASD) using diffusion basis spectrum imaging (DBSI). METHODS: A total of 35 ASD patients and 32 healthy controls (HC), matched for sex and age, underwent DBSI at 3T. We analyzed DBSI-derived indices of brain white matter using tract-based spatial statistics (TBSS) to compare ASD and HC groups. Support vector machine (SVM) classification was employed to evaluate the potential of positive DBSI parameters in distinguishing ASD patients. Additionally, correlation analyses were conducted to explore relationships between positive DBSI parameters and clinical scales. RESULTS: Patients in the ASD group exhibited significantly higher fiber ratios in the right brainstem tracts, increased radial diffusivity in the left superior longitudinal fasciculus, and reduced fractional anisotropy (FA) in various fiber tracts, including projection, commissural, and association fibers, compared to HC. Notably, the FA of the right cingulum correlated positively with the Gesell scale (r = 0.439, p = 0.008) and achieved a specificity of 90% in identifying ASD. CONCLUSION: The DBSI findings suggest asynchronous myelination in the right hemisphere and cerebellum in preschool ASD, with the FA value of the right cingulate gyrus appearing to be a reliable marker for ASD and may serve as a potential diagnostic parameter for preschool ASD.

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