Pubmed du 26/07/25

Pubmed du jour

1. Alon R. Predicting the Emotions of Brothers and Sisters of Individuals with Down Syndrome/Autism. J Autism Dev Disord;2025 (Jul 26)

Within a family system, when a sibling is diagnosed with Down Syndrome (DS) or autism, it can pose significant challenges for the non-diagnosed sibling, especially as the non-diagnosed sibling is often responsible for the future care of the diagnosed sibling. DS and autism have specific characteristics that may uniquely influence sibling relations, particularly the emotions towards the sibling with the disability. The current study focused on the role of sense of coherence (SOC) in predicting the emotions of emerging adult siblings of individuals with DS/autism. There were 543 participants ranging in age from 18 to 27 (M = 22.33, SD = 2.49): 306 were siblings (105 brothers, 201 sisters) of individuals with DS and 237 siblings (89 brothers, 148 sisters) of individuals with autism. Participants completed self-report questionnaires on emotions, SOC, and demographics. Factor analysis revealed that emotions comprised active negative emotions, passive negative emotions, and positive emotions. Path analysis results showed that SOC predicted all three emotion types, with the disability (DS/autism) and the sex of the typically-developing sibling involved in this relation. The results highlight the importance of addressing the unique needs of siblings of individuals with DS/autism both in terms of the type of disability and according to their sex.

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2. Burleigh L, Weber N, Lim A, Young RL. Perceived Remorse and Education: Their Impact on Mock Juror Judgements of Autistic Individuals. J Autism Dev Disord;2025 (Jul 26)

Research indicates that autistic individuals are at increased risk compared to their non-autistic peers of receiving harsher treatment and penalties when interacting with the criminal justice system. Given that remorse is highly regarded in the criminal judicial system and features strongly in comments made by adjudicative constituents when issuing proposed punishments, the present study investigated whether this harshness may be attributed to autistic people being perceived by non-autistic individuals as less remorseful. It was also investigated whether educating people about autism would moderate any mediating relationship between autism diagnosis, perceived remorse, and penalty harshness. Five autistic and five non-autistic individuals participated in video recordings and were instructed to convey remorse for two hypothetical crimes. Non-autistic participants (N = 195) were then randomly allocated one autistic video and one non-autistic video to view and asked to indicate perceived remorse and degree of appropriate penalty harshness. Participants were then educated regarding autistic characteristics and given the option to re-rate perceived remorse and penalty harshness. Results supported the hypothesis that perceived remorse would mediate the relationship between autism diagnosis and penalty harshness. Further, education resulted in a reduction on the harshness of penalty imposed, through improving perceived remorse. These results suggest that autistic individuals may be unfairly disadvantaged within the forensic setting when perceived by non-autistic individuals, due to potential difficulties or differences in displaying remorse. However, the presentation of education regarding autism may mitigate these adverse outcomes, indicating that educating decision makers on potential differences in autistic presentation may be beneficial.

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3. Campêlo Borba de Morais RM, Gouveia FV, Sato F, Germann J, Pinheiro S, Barros N, Kuroki MA, Fongaro C, Zaffarani L, da Rocha MM, Fonoff ET, Brentani HP, Martinez RCR. Multimodal associations between brain morphology, immune-inflammatory markers, spatial transcriptomics, and behavioural symptoms in autism spectrum disorder. Brain Behav Immun;2025 (Jul 26)

BACKGROUND: Aggression is a common and disruptive feature of autism spectrum disorder (ASD), affecting up to 68% of individuals and significantly burdening families and caregivers. Despite its prevalence, the mechanisms underlying aggression in ASD remain poorly understood, with evidence pointing to complex interactions between behavioural, neurobiological, and environmental factors. Emerging research suggests that neuroinflammation, along with structural brain changes, may contribute to aggressive behaviour in ASD. OBJECTIVES: This study investigated the behavioural and neurobiological profiles of individuals with ASD who exhibit aggressive behaviour by examining neuroendocrine and inflammatory markers, structural brain differences, and spatial transcriptomics. The overarching goal was to identify the mechanisms underlying aggression in ASD and inform potential therapeutic strategies. METHODS: Forty-two male individuals with ASD aged 11-38 years were included in the study, divided into aggressive (Case; n = 21) and non-aggressive (Control; n = 21) groups based on Modified Overt Aggression Scale scores. A series of standardized questionnaires were used to investigate behaviour patterns and quality of life. Plasma levels of neuroendocrine and inflammatory markers, including cytokines and neuropeptides, were measured using a multiplex assay. For a subset of aggressive participants (n = 13), MRI scans were acquired, and a deformation-based morphometry (DBM) was performed to evaluate structural brain differences. Spatial transcriptomics investigated gene expression patterns in brain regions exhibiting volume alterations. RESULTS: Aggression in ASD was associated with more severe core symptoms (higher CARS scores) and pervasive behavioural disturbances, including hyperactivity, irritability, and stereotypy, as well as poorer quality of life. Aggressive individuals exhibited elevated levels of TNF-α, IL-6, IL-8, IL-13, TNF-α, IFN-γ, vasopressin, and epidermal growth factor (EGF), suggesting a pro-inflammatory state. Neuroimaging revealed distinct volume differences between patients with high- compared to medium-aggression, with enlargements in the anterior cingulate cortex, orbitofrontal cortex, and hippocampus and reductions in the amygdala, insula, and basal ganglia. Spatial transcriptomics identified two gene expression clusters: regions associated with emotional regulation exhibit overexpression of pro-inflammatory genes. In contrast, sensory and cognitive regions have relative anti-inflammatory gene upregulation, potentially reflective of a compensatory mechanism. CONCLUSIONS: This study identifies a complex interplay between heightened neuroinflammation and structural brain differences related to gene expression patterns in aggressive ASD. The findings suggest that aggression is associated with imbalances in the fronto-limbic-striatal network, compounded by a pervasive pro-inflammatory state. These insights highlight the potential for targeted interventions integrating behavioural therapies with adjunctive treatments addressing neuroinflammation and neural dysregulation. Future research should explore longitudinal dynamics, genetic and environmental influences, and broader ASD populations to develop personalized strategies for managing aggression in ASD.

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4. Davis A, Chu S, Scott L, Mohiuddin S. Use of COACH for Autism Screening in Speech and Language Pathology Evaluations; Preliminary Outcomes. J Autism Dev Disord;2025 (Jul 26)

PURPOSE: This brief report investigates whether the use of a novel screening tool (Clinical Observation for Autism CHecklist – COACH) developed for use in speech-language pathology (SLP) evaluations improves the identification and documentation of autism traits in SLP evaluations and decreases wait times for diagnostic evaluation for autism spectrum disorder (ASD). METHOD: 28 patients aged 16-56 months identified by SLP as having increased suspicion for ASD were retrospectively identified by chart review. 14 of the patients were evaluated by SLP who utilized the COACH tool and subsequently referred the patient for ASD diagnostic evaluation (pilot/investigation group). 14 of the patients were referred for ASD diagnostic evaluation through standard diagnostic pathways (standard/control group). RESULTS: Both groups demonstrated high rate of diagnostic consensus (93%); there were significantly shorter wait times for ASD diagnostic evaluation in the pilot (investigation) group vs. standard pathway (control) group (4.85 ± 3.21 weeks vs. 38.21 ± 14.93 weeks). Female and racial/ethnic minority children were also proportionally more likely to be identified in the pilot group compared to the standard pathway group. CONCLUSION: These results demonstrate that SLPs who utilize a standardized tool specific to identifying/documenting ASD traits demonstrate a high degree of diagnostic consensus with subspecialty ASD diagnostic evaluation. Earlier identification by SLP may lead to decreased wait time for formal diagnosis and identification of ASD in traditionally under-diagnosed populations.

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5. Ferreira H, Santos S, Martins J, Castelo-Branco M, Gonçalves J. Distinct early development trajectories in Nf1(±) and Tsc2(±) mouse models of autism. J Neurodev Disord;2025 (Jul 26);17(1):42.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and interaction, and repetitive behaviors. Males are three times more likely to be diagnosed with ASD than females, and sex-dependent alterations in behavior and communication have been reported both in clinical and animal research. Animal models are useful for understanding ASD-related manifestations and their associated neurobiological mechanisms. However, even though ASD is diagnosed during childhood, relatively few animal studies have focused on neonatal development. METHODS: Here, we performed a detailed analysis of neonatal developmental milestones and maternal separation-induced ultrasonic vocalizations (USVs) in two genetic animal models of ASD, neurofibromatosis type 1 (Nf1(±)) and tuberous sclerosis complex 2 (Tsc2(±)). RESULTS: Nf1(±) and Tsc2(±) mice display strikingly distinct developmental profiles regarding motor, strength, and coordination skills. Nf1(±) mouse pups mostly show genotype-related differences, whereas Tsc2(±) mouse pups mainly present sexual dimorphisms. Furthermore, we found several differences regarding the number of USVs, frequency modulation, and temporal and spectral profile. Importantly, Nf1(±) animals tend to present sex- and genotype-dependent differences earlier than the Tsc2(±) mouse pups, suggesting distinct developmental curves between these two animal models. CONCLUSIONS: This study provides a nuanced understanding of how these two ASD models differ in their developmental trajectories. It underscores the importance of studying sex differences and early-life developmental markers, as these could offer crucial insights into ASD’s progression and neurobiology. The distinct profiles of these models may help guide more targeted therapeutic strategies in the future.

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6. Keefer A, Perrin J, Ferrara I, Vasa RA. Intolerance of Uncertainty and Sensory Overreactivity: Potential Targets to Reduce Aggression in Young Autistic Children?. J Autism Dev Disord;2025 (Jul 26)

PURPOSE: Young autistic children (i.e., under 6 years old) are more likely to engage in frequent and severe aggression compared to non-autistic peers. Yet limited studies have examined aggression or its predictors in this age range. This cross-sectional study examined if intolerance of uncertainty (IU) and sensory over-reactivity (SOR), two mechanisms underlying internalizing conditions in autistic youth, are also associated with aggression in young, autistic children. METHODS: Data were analyzed from 59 autistic children aged 3 to 5 years-old from a larger study of anxiety phenomenology and correlates. Parents completed the Response to Uncertainty and Low Environmental Stability Scale (RULES), Short Sensory Profile-2 (SSP-2), and the Child Behavior Checklist (CBCL)-Aggressive Behavior Subscale to assess IU, SOR, and aggression, respectively. Child anxiety, which was examined as a potential confounding variable, was assessed using the Anxiety Disorders Interview Schedule-Parent Version with Autism Spectrum Addendum (ADIS/ASA). RESULTS: Multiple regression analysis revealed that IU and SOR were each positively associated with aggression while controlling for child anxiety and age. Although IU and SOR were moderately correlated, dominance analysis indicated they had moderate and relatively equivalent independent associations with aggression. CONCLUSIONS: Findings emphasize the need for further research investigating IU and SOR as predictors of aggression in young autistic children and as promising targets for aggression intervention and prevention.

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7. Khongpiboonkit R, Chaiyakit N, Wannapaschaiyong P, Sittanomai N. Prevalence and Factors Associated with Overweight and Obesity in Thai Children and Adolescents with Autism Spectrum Disorder: A Retrospective Longitudinal Study. J Autism Dev Disord;2025 (Jul 26)

Children with Autism Spectrum Disorder (ASD) exhibit higher rates of overweight/obesity compared to children without ASD, yet influencing factors remain inconclusive. This study aimed to evaluate the prevalence of overweight/obesity and identify associated factors within this population using longitudinal data. This retrospective longitudinal study analyzed 1,876 visits from 176 children and adolescents (aged 2-18 years) diagnosed with ASD attending a child psychiatric clinic between 2012 and 2018. World Health Organization (WHO) criteria defined weight status. Generalized Estimating Equations (GEE) and linear regression identified factors associated with overweight/obesity and Body Mass Index (BMI) Z-scores. The overall prevalence of overweight/obesity was 35%, increasing significantly from 27.3% (initial visit) to 37.5% (last visit), alongside rising BMI Z-scores (p < 0.001). Antipsychotics use showed a modest association with increased odds of overweight/obesity (Adjusted Odds Ratio [AdjOR] = 1.499, p = 0.049). Age (β = - 0.100, p = 0.037), stimulants use (β = - 0.312, p = 0.030) and mood disorders (β = - 0.982, p < 0.001) correlated with lower BMI Z-scores, while Attention-Deficit/Hyperactivity Disorder (ADHD) (β = 0.442, p = 0.027) correlated with higher scores. Children with ASD show higher prevalence of overweight and obesity than children without ASD. Identified associations between psychotropic medications, comorbid psychiatric conditions (mood disorders, ADHD), and weight status underscore the critical need for early psychiatric assessment, proactive weight monitoring, and tailored management strategies in this vulnerable population.

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8. Martínez-Villamea S, Prada-García C, Benítez-Andrades JA, Quiroga-Sánchez E, García-Fernández R, Arias-Ramos N. Sleep Disturbances and Dietary Habits in Autism: A Comparative Analysis. J Autism Dev Disord;2025 (Jul 26)

This study investigates dietary patterns and sleep quality in children and adolescents on the autism spectrum, compared to non-autistic peers. It explores the relationship between dietary habits and sleep quality, aiming to identify modifiable factors that could enhance well-being in ASD individuals. A cross-sectional case-control study was conducted with 158 participants on the autism spectrum and 77 non-autistic individuals aged 6-17 years in Spain. Dietary patterns were assessed using a validated food frequency questionnaire, while sleep quality was measured with the Children’s Sleep Habits Questionnaire (CSHQ-SP) and Pittsburgh Sleep Quality Index (PSQI). Statistical analyses, including non-parametric tests and Spearman’s correlation, were performed to examine differences and associations. Children on the autism spectrum displayed higher sugar intake and lower consumption of fruits and vegetables compared to non-autistic peers. ASD adolescents consumed more sugary beverages, with less pronounced differences in other food categories. Sleep quality was significantly poorer in the ASD group across all age cohorts, characterized by increased sleep latency, parasomnias, and daytime dysfunction. Positive associations were found between fruit and vegetable intake and improved sleep quality in ASD children. Unexpectedly, adolescents on the autism spectrum showed a complex relationship between sugar consumption and sleep quality, indicating potential short-term benefits but long-term risks. This study highlights the interplay between diet and sleep quality in ASD populations. Interventions promoting healthier eating habits, such as increased fruit and vegetable intake and reduced sugar consumption, could improve sleep outcomes and overall well-being in this vulnerable population.

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9. Pulliam G, Feldman JI, Wallace MT, Cutting LE, Woynaroski TG. Associations Between Audiovisual Integration and Reading Comprehension in Autistic and Non-autistic School-Aged Children. J Autism Dev Disord;2025 (Jul 26)

Although not considered a core feature of autism, autistic children often present with difficulties in reading comprehension, which is a multisensory process involving translation of print to speech sounds (i.e., decoding) and interpreting words in context (i.e., language comprehension). This study tested the hypothesis that audiovisual integration may explain individual differences in reading comprehension, through its relations with decoding and language comprehension, in autistic and non-autistic children. To test our hypothesis, we conducted a concurrent correlational study involving 50 autistic and 50 non-autistic school-aged children (8-17 years of age) matched at the group level on biological sex and chronological age. Participants completed a battery of tests probing their reading comprehension, decoding, and language comprehension, as well as a psychophysical task assessing audiovisual integration as indexed by susceptibility to the McGurk illusion. A series of regression analyses was carried out to test relations of interest. Audiovisual integration was significantly associated with reading comprehension, decoding, and language comprehension, with moderate-to-large effect sizes. Mediation analyses revealed that the relation between audiovisual integration and reading comprehension was completely mediated by decoding and language comprehension, with standardized indirect effects indicating significant mediation through both pathways. These associations did not vary according to diagnostic group. This work highlights the potential role of audiovisual integration in language and literacy development and underscores the potential for multisensory-based interventions to improve reading outcomes in autistic and non-autistic children. Future research should employ longitudinal designs and more diverse samples to replicate and extend these findings.

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10. Shi Z, Jin Y, Xu H, Gao L, Wu M, Chang Y, Song X, Guo X. Altered neurotransmitters in cerebrospinal fluid of children with autism spectrum disorder. Brain Res;2025 (Jul 26):149851.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors. Neurotransmitter imbalances have been implicated in ASD, but few studies have examined cerebrospinal fluid (CSF) alterations in ASD patients. Identifying specific CSF biomarkers could enhance our understanding of the underlying neurobiology and improve diagnostic and therapeutic approaches. METHODS: CSF samples were collected from 17 children, including 8 with ASD and 9 typically developing controls. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to analyze neurotransmitter levels and metabolites in the CSF samples. Statistical comparisons were performed to identify group differences in neurotransmitter concentrations. RESULTS: ASD participants had significantly lower levels of glutamine, norepinephrine, and kynurenine compared to controls. Neurotransmitter dysregulation, particularly in the glutamine-glutamate cycle, was observed in ASD, potentially contributing to core symptoms. CONCLUSION: Our findings suggest that neurotransmitter imbalances in the CSF could serve as potential biomarkers for ASD. Further research is needed to validate these findings and explore therapeutic interventions targeting these neurotransmitter pathways.

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11. Zambri NM, Koh HC, Daniel LM, Wong CM. Identifying the Best Discriminating Items for Three Autism Screening Methods in a High-Likelihood Sibling Population. J Autism Dev Disord;2025 (Jul 26)

The questions used in caregiver-completed autism screening tools vary in how well they differentiate between children with autism and those without, depending on the age group screened, the target population, and language or cultural contexts. This study examined the best discriminating items for the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), Social Attention and Communication Surveillance, Revised (SACS-R), and ASDetect in a high-likelihood younger sibling population in a multicultural setting. Alternative scoring methods to improve the utility of these screening tools were also examined. Item response data were extracted from a published study on 141 siblings who underwent autism screening at 12, 18 and 30 months old, followed by a diagnostic assessment at 36 to 48 months old. 32 (22.7%) were diagnosed with autism. The best discriminating items from the M-CHAT-R/F were ‘follows a point’, ‘pretend play’, ‘protoimperative pointing’, ‘protodeclarative pointing’, ‘shows objects’, ‘responds to name’, ‘follows gaze’ and ‘understands instructions’. An alternative scoring method (‘Sing-CHAT’) was established using these items and performed better than the full M-CHAT-R/F when using failing ≥1 item as a cutoff. In contrast, almost all items on the SACS-R and ASDetect were found to be significantly discriminating at 18 and 30 months old. For these, however, using all items instead of just key items, and using a lower cut-off threshold, resulted in improvements in psychometric properties. Best discriminating items in screening tools vary by age, population and culture, and alternative scoring methods could potentially improve autism detection.

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