1. Bejarano-Martín Á, Casado-Vara R, Magán-Maganto M, Díez E, Jenaro C, Flores N, Orrantia J, Canal-Bedia R. Early numerical skills and mathematical domains in autistic students in primary school. Front Psychiatry. 2024; 15: 1509137.

INTRODUCTION: It is crucial to provide a quality educational response to the needs of autistic children across various mathematical domains. However, there is no consensus on which of the early skills have the greatest predictive effect in the short and long term within these domains. Therefore, this research aimed to a) compare early numerical skills and mathematics domains, and 2) analyze the predictive value of early numerical skills into mathematics domains. METHODS: Forty-two children (twenty-one autistic children and twenty-one non-autistic children) aged 6-12 years participated in the study. Three areas were evaluated through different tasks: 1) control tasks: reading, impulse control and manual speed, 2) early numerical skills: counting, verbal subitizing, magnitude comparison and estimation, and 3) mathematical domains: arithmetic calculation and arithmetic word problems. RESULTS: Significant differences were found in subitizing and estimation tasks. Both groups showed similar mathematical skills in arithmetic calculation and arithmetic word problems. For autistic students, several non-symbolic tasks predict performance in mathematical domains, whereas for non-autistic students, symbolic tasks were predictors. DISCUSSION: Although mathematics does not seem to be an area of concern for autistic children, future studies should explore early numerical and mathematical domains in children with cognitive support needs through longitudinal research.

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2. Bricault S, Dawson M, Lee J, Desai M, Schwalm M, Chung KS, DeTienne E, Fagan E, Li N, Becker A, Muthupalani S, Fränken JP, Pinotsis DA, Jasanoff A. Peripheral contributions to resting state brain dynamics. Nat Commun. 2024; 15(1): 10820.

The correlational structure of brain activity dynamics in the absence of stimuli or behavior is often taken to reveal intrinsic properties of neural function. To test the limits of this assumption, we analyzed peripheral contributions to resting state activity measured by fMRI in unanesthetized, chemically immobilized male rats that emulate human neuroimaging conditions. We find that perturbation of somatosensory input channels modifies correlation strengths that relate somatosensory areas both to one another and to higher-order brain regions, despite the absence of ostensible stimuli or movements. Resting state effects are mediated by the same peripheral and thalamic structures that relay responses to overt sensory stimuli. The impact of basal peripheral input is reduced in a rat model of autism, which displays both lower somatosensory functional connectivity and insensitivity to vibrissa inactivation. These results demonstrate the influence of extrinsic influences on resting state brain phenotypes in health and disease.

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3. Chesani FH, Bossardi CN, Sandri JVA, Gouvea PB, Hens K. How do autistic people, professionals, and caregivers think about the origins and environments of autism. Autism Dev Lang Impair. 2024; 9: 23969415241308428.

Understanding what people believe the causes of autism to be has implications for experiences of familial guilt and stigma. Using a qualitative approach, we investigated how Brazilian healthcare professionals, parents of young and adult autistic people and young and adult autistic people consider the origins of autism and the interaction between the biological and social environment concerning the challenges autistic people encounter. Eight health professionals who assist autistic people, five young autistic people, six family members of young autistic people, five autistic adults, and four parents of autistic adults participated in the research. After analysis, two major coding themes emerged from the interviews: (T1) Perceived origins of autism: genetic, environmental, or both, (T2) The impact of the structured family environment. Our respondents consider autism in Brazil strongly related to genetic origins and little to environmental and social origins. At the same time, the context of the structured social and family environment can influence challenges and opportunities for autistic people.

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4. Guillen-Parra M, Lin J, Prather AA, Wolkowitz OM, Picard M, Epel ES. The relationship between mitochondrial health, telomerase activity and longitudinal telomere attrition, considering the role of chronic stress. Sci Rep. 2024; 14(1): 31589.

Telomere attrition is a hallmark of biological aging, contributing to cellular replicative senescence. However, few studies have examined the determinants of telomere attrition in vivo in humans. Mitochondrial Health Index (MHI), a composite marker integrating mitochondrial energy-transformation capacity and content, may be one important mediator of telomere attrition, as it could impact telomerase activity, a direct regulator of telomere maintenance. In this observational longitudinal study, we examined in peripheral blood mononuclear cells (PBMCs), whether MHI predicted changes in telomerase activity over a 9-month period, thus impacting telomere maintenance over this same period of time. We secondarily examined the role of chronic stress, by comparing these relationships in mothers of children with an autism spectrum disorder (caregivers) vs. mothers of a neurotypical child (controls). Here we show that both chronic stress exposure and lower MHI independently predicted decreases in telomerase activity over the subsequent 9 months. Finally, changes in telomere length were directly related with changes in telomerase activity, and indirectly with MHI and chronic stress, as revealed by a path analysis. These results highlight the potential role of chronic stress and MHI as drivers of telomere attrition in human PBMCs, through an impairment of both energy-transformation capacity and telomerase production.

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5. Kalınlı EM, Akbas E, Yolal Ertural D, Gunes S. Investigation of RhoA, ROCK1, and ROCK2 Gene Expressions in Autism Spectrum Disorders. Cureus. 2024; 16(11): e74810.

OBJECTIVE: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that emerges in early childhood and is characterized by difficulties in social communication, repetitive behaviors, and restricted interests. The Ras homolog (Rho)/Rho-kinase signaling pathway plays a critical role in maintaining synaptic structure and function, as it regulates the actin cytoskeleton. This study aims to investigate the expression of the Ras homolog (Rho) family member A (RhoA), Rho-kinase 1 (ROCK1), and Rho-kinase 2 (ROCK2) genes within this pathway in relation to ASD. METHODS: The study included 82 individuals diagnosed with ASD from the Adıyaman Training and Research Hospital’s Department of Child and Adolescent Psychiatry and 82 healthy individuals without a family history of ASD, matched for gender and age. RNA isolation and complementary DNA (cDNA) extraction for RhoA, ROCK1, and ROCK2 genes were performed from blood samples of the patient and control groups. The RhoA, ROCK1, and ROCK2 gene expression levels were analyzed by real-time polymerase chain reaction (PCR) using the comparative CT (ΔΔCT) method. RESULTS: Of the 82 individuals in the ASD group, 54 (65.9%) were male, and 28 (34.1%) were female, with a mean age of 7.74 ± 4.35 years. ASD is more common in males (p < 0.001). RhoA gene expression level is lower in patients with ASD (p < 0.001). CONCLUSION: The Rho/Rho-kinase signaling pathway genes, including RhoA, ROCK1, and ROCK2, play roles in the neurodevelopmental processes. The lower expression level of RhoA in the ASD group may suggest that these genes could serve as potential biomarkers for the disorder. Further research is needed to explore these genetic markers' roles and their potential as therapeutic targets in ASD treatment.

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6. Lee S, Hwang SK, Cho JS, Ryu HC, Chung JY. Population pharmacokinetic and pharmacodynamic model guided weight-tiered dose of AST-001 in pediatric patients with autism spectrum disorder. Front Pharmacol. 2024; 15: 1452526.

AST-001, a novel syrup formulation of L-serine, was developed for the treatment of autism spectrum disorders (ASD) in pediatric patients. This study aimed to establish a pharmacokinetic (PK)-pharmacodynamic (PD) model to elucidate the effect of AST-001 on adaptive behavior in children with ASD. Due to the absence of PK samples in pediatric patients, a previously published population PK model was used to link the PD model by applying an allometric scale to body weight. The time courses of Korean-Vineland Adaptive Behavior Scale-II Adaptive Behavior Composite (K-VABS-II-ABC) scores were best described by an effect compartment model with linear drug effects (Deff, 0.0022 L/μg) and linear progression, where an equilibration half-life to the effect compartment was approximately 15 weeks. Our findings indicated a positive correlation between the baseline K-VABS-II-ABC score (E0, 48.51) and the rate of natural progression (Kprog, 0.015 day(-1)), suggesting enhanced natural behavioral improvements in patients with better baseline adaptive behavior. Moreover, age was identified as a significant covariate for E0 and was incorporated into the model using a power function. Based on our model, the recommended dosing regimens for phase III trials are 2, 4, 6, 10, and 14 g, administered twice daily for weight ranges of 10-13, 14-20, 21-34, 35-49, and >50 kg, respectively. These doses are expected to significantly improve ASD symptoms. This study not only proposes an optimized dosing strategy for AST-001 but also provides valuable insights into the PK-PD relationship in pediatric ASD treatment.

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7. Ma SZ, Wang XK, Yang C, Dong WQ, Chen DD, Song C, Zhang QR, Zang YF, Yuan LX. Robust Autism Spectrum Disorder-Related Spatial Covariance Gray Matter Pattern Revealed With a Large-Scale Multi-Center Dataset. Autism Res. 2024.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder and its underlying neuroanatomical mechanisms still remain unclear. The scaled subprofile model of principal component analysis (SSM-PCA) is a data-driven multivariate technique for capturing stable disease-related spatial covariance pattern. Here, SSM-PCA is innovatively applied to obtain robust ASD-related gray matter volume pattern associated with clinical symptoms. We utilized T1-weighted structural MRI images (sMRI) of 576 subjects (288 ASDs and 288 typically developing (TD) controls) aged 7-29 years from the Autism Brain Imaging Data Exchange II (ABIDE II) dataset. These images were analyzed with SSM-PCA to identify the ASD-related spatial covariance pattern. Subsequently, we investigated the relationship between the pattern and clinical symptoms and verified its robustness. Then, the applicability of the pattern under different age stages were further explored. The results revealed that the ASD-related pattern primarily involves the thalamus, putamen, parahippocampus, orbitofrontal cortex, and cerebellum. The expression of this pattern correlated with Social Response Scale and Social Communication Questionnaire scores. Moreover, the ASD-related pattern was robust for the ABIDE I dataset. Regarding the applicability of the pattern for different age stages, the effect sizes of its expression in ASD were medium in the children and adults, while small in adolescents. This study identified a robust ASD-related pattern based on gray matter volume that is associated with social deficits. Our findings provide new insights into the neuroanatomical mechanisms of ASD and may facilitate its future intervention.

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8. Tedla JS, Asiri F, Reddy RS, Sangadala DR, Gular K, Kakaraparthi VN. Assessing the quality of life in children with autism spectrum disorder: a cross-sectional study of contributing factors. Front Psychiatry. 2024; 15: 1507856.

OBJECTIVE: The study aimed to assess the quality of life (QoL) in children with autism spectrum disorder (ASD) compared to typically developing peers, identify key influencing factors such as socio-demographic and comorbid conditions, and examine the impact of symptom severity on QoL outcomes. METHODS: In this cross-sectional study conducted in Saudi Arabia, 75 children with ASD were compared to 75 typically developing children matched for age and gender. QoL was evaluated using the Pediatric Quality of Life Inventory (PedsQL), while the severity of autism symptoms was assessed using the Autism Diagnostic Observation Schedule (ADOS). Additional variables, including socio-demographic factors, comorbid conditions, and family environment, were collected through structured interviews and clinical assessments. Statistical analyses, including independent samples t-tests, multiple linear regression, and ANOVA, were employed to compare QoL scores, identify predictors, and assess the impact of symptom severity on QoL outcomes. RESULTS: The mean overall QoL score for children with ASD was 57.86 (SD = 13.25) compared to 81.67 (SD = 10.89) for typically developing children (t = -10.56, p < 0.001, Cohen's d = 1.90). Socioeconomic status (β = -0.25, t = -5.00, p < 0.001), comorbid ADHD (β = -0.35, t = -5.83, p < 0.001), and parental mental health issues (β = -0.45, t = -9.00, p < 0.001) were significant predictors of lower QoL. ANOVA results showed that children with severe autism symptoms had the lowest QoL scores (mean = 40.12, SD = 15.67; F = 20.45, p < 0.001, η² = 0.45). CONCLUSION: Children with ASD showed significantly lower QoL, particularly in social and school functioning, highlighting the need for targeted interventions addressing core symptoms and environmental and family factors to improve outcomes.

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