Pubmed du 27/02/25

Pubmed du jour

1. Brian J, Solish A, Leef J, Nguyen J, Bickle L, Budovitch R, Chan V, Drouillard B, Drumm E, Genore L, Adams RH, Hermolin R, Klemencic N, Lambert M, Lee K, Lim J, Mak-Fan K, O’Neill M, Price S, Pye M, Selezneva E, Taheri A, Anagnostou E. Virtual delivery of group-based cognitive behavioral therapy for autistic children and youth during the COVID-19 pandemic was acceptable, feasible, and effective. Sci Rep. 2025; 15(1): 7034.

Anxiety challenges co-occur at a high rate in autistic children and youth (~ 50-79%), often with significant interference with daily functioning. Evidence-based interventions (e.g., cognitive behavioral therapy (CBT)-based approaches) are effective in treating anxiety disorders across populations. Facing your fears (FYF), a group-based CBT program modified for youth with ASD, yields positive outcomes in controlled research settings and community implementation, but access is constrained by limited system capacity and families’ distance from specialized centers. COVID-19 spurred innovations in virtual delivery of care, generating possibilities for increased scalability of evidence-based treatments. This study investigated the feasibility, acceptability, and effectiveness of FYF when delivered virtually through a tertiary care hospital in Ontario. Data were collected over one year (N = 100 autistic children/youth aged 8-13 years and their caregivers). Significant improvements emerged in caregiver- and self-reported anxiety symptoms, and caregivers reported increased self-efficacy in supporting their child with their anxiety. Significant predictors of treatment response included youth baseline anxiety, level of adaptive functioning, ASD symptoms, and caregiver self-efficacy. Three COVID-related factors were small but significant contributors to the model. Virtual delivery of FYF is feasible and effective for treating elevated anxiety in autistic children/youth and may improve access.ClinicalTrials.gov identifier: NCT04666493.

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2. Lee JYS, Whittingham K, Mitchell AE. AutInsight: A Pilot Randomised Controlled Trial (RCT) of a Consumer-Informed Parent Support Program for Parents of Autistic Children. J Autism Dev Disord. 2025.

AutInsight is an innovative, consumer-informed parent support program for parents of autistic children grounded in perspectives from qualitative research with autistic adults. The current study outlines the development and evaluation of AutInsight through a pilot randomised controlled trial. Parents (N = 41) of autistic children (10 years and younger) were randomly allocated to AutInsight (n = 20) or care-as-usual (n = 21) and completed online questionnaires across three timepoints (baseline, post-program and 3-month follow-up). Measures include parental sensitivity, parental acceptance and understanding, psychological flexibility, mindful parenting, parental mental health, overall family experience, quality of life, and child behaviours. Intent-to-treat analyses indicated greater rates of improvement for parents allocated to the AutInsight program, with small- to medium-sized effects for parent-reported parental sensitivity (EA-SR mutual attunement d = 0.84, EA-SR child involvement d = 0.50), as well as overall autism family experience (AFEQ(total) d = 0.38, AFEQ(family life) d = 0.29). Greater rates of improvement were also found in parent-reported child conduct problems (SDQ d = 0.62) and prosocial behaviours (SDQ d = 0.48). No significant results were found in observed parental sensitivity or any other measure. Results suggest preliminary evidence of effectiveness, feasibility and acceptability of the AutInsight program. A larger, fully powered trial is warranted. This trial was prospectively registered with the Australian and New Zealand Clinical Trials Registry (Trial ID: ACTRN12623000806662).

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3. Li W, Zhang L, Xu Y, Li H, Li B, Sun S, Zhang X, Duan G, Chen Y, Zhang J, Cao Y, Li X, Liu Q, Wu Y, Zhang S, Leavenworth JW, Wang X, Zhu C. Altered monocyte subpopulations and their association with autism spectrum disorder risk in children. Brain Behav Immun. 2025; 126: 315-26.

OBJECTIVE: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication, restricted interests, and repetitive behaviors. Emerging evidence suggests a link between immune dysregulation and ASD. This study investigates alterations in monocyte subpopulations and cytokine production in children with ASD and their potential associations with ASD risk and severity. METHODS: Initially, the immune status of peripheral blood mononuclear cells was assessed in cohort-I of 96 typically developing (TD) children and 92 children diagnosed with ASD using flow cytometry. Subsequently, the secretion of cytokines IL-6 and IL-10 by monocytes was evaluated following stimulation with a leukocyte activation mixture and intracellular protein staining technique in cohort-II. RESULTS: Children with ASD exhibited significantly higher levels of total monocytes, classical monocytes (CD14(hi)/CD16(-)), and non-classical monocytes (CD14(low)/CD16(+)) compared to TD children (p < 0.001). Elevated levels of classical monocytes (β: 0.395; 95 %CI: 0.260-0.530; p < 0.001) and non-classical monocytes (β: 0.629; 95 %CI: 0.516-0.742; p < 0.001) were significantly associated with ASD after adjusting for age, sex and body mass index. Furthermore, increased production of IL-6 by monocytes was observed in children with ASD (p = 0.001). Logistic regression analysis revealed that classical monocytes (OR: 1.104; 95 %CI: 1.062-1.147; p < 0.001), non-classical monocytes (OR: 2.913; 95 %CI: 2.130-3.986; p < 0.001) and IL-6 production by monocytes (OR: 1.306; 95 %CI: 1.096-1.557; p = 0.003) are risk factors for ASD. Spearman correlation analysis revealed a negative correlation between classical monocyte levels and adaptive behavior developmental quotient (DQ) (r = - 0.377; p = 0.001), fine motor DQ (r = - 0.329; p = 0.003) and personal-social DQ (r = - 0.247; p = 0.029) in children with ASD. CONCLUSION: Elevated classical and non-classical monocytes are potential risk factors for ASD and may influence neurodevelopmental outcomes. Further research is needed to elucidate the precise mechanisms and therapeutic implications.

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4. Liu XQ, Huang TL, Zhang SY, Huang YT, Mo JY, Yan YS, Cao YN, Cai YR, Sheng JZ, Zhu H, Huang HF. Gestational diabetes induces autistic-like behaviors in offspring by disrupting the GABAergic system. Front Neurosci. 2025; 19: 1538115.

BACKGROUND: Increasing evidence have shown that gestational diabetes mellitus (GDM) is associated with the risk of autism in offspring. However, the underlying mechanisms have not yet been fully elucidated. METHODS: A mouse model of gestational diabetes mellitus (GDM) was established to investigate its impact on offspring. Behavioral analyses were conducted to assess social novelty and stereotypic behaviors. Neuronal excitability in the prefrontal cortex (PFC) was evaluated using c-Fos staining after social behavior stimulation. Single-cell transcriptomics and metabolomics were employed to analyze changes in the GABAergic system. RESULTS: Behavioral analyses revealed that GDM led to impaired social novelty and increased stereotypic behaviors in male offspring. c-Fos staining showed hyperexcitability in the PFC of male offspring from the GDM group following social behavior stimulation. Single-cell transcriptomics and metabolomics identified alterations in the GABAergic system, including a decrease in GABAergic neurons and reduced GABA levels. This reduction in GABA was associated with decreased GAD2 expression due to DNA hypermethylation in the GAD2 promoter region. CONCLUSION: These data suggest that GDM induces autistic-like behaviors, including reduced social novelty and increased stereotypic behaviors, in offspring by affecting the GABAergic system. These findings provide new insights into how GDM may influence neurodevelopment in offspring.

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5. Mills J, Duffy O. Speech and Language Therapists’ Perspectives of Virtual Reality as a Clinical Tool for Autism: Cross-Sectional Survey. JMIR Rehabil Assist Technol. 2025; 12: e63235.

BACKGROUND: Persistent difficulties with social skills form part of the diagnostic criteria for autism and in the past have required speech and language therapy (SLT) management. However, many speech and language therapists are moving toward neuro-affirmative practices, meaning that social skills approaches are now becoming redundant. Research demonstrates that virtual reality (VR) interventions have shown promise in overcoming challenges and promoting skill generalization for autistic children; however, the majority of these focus on social skills interventions. While VR is emerging as an SLT intervention, its application for autism remains unexamined in clinical practice. OBJECTIVE: This research aimed to examine speech and language therapists’ knowledge and attitudes toward immersive VR as a clinical tool for autistic children and explore the reasons for its limited integration into clinical practice. METHODS: A web-based cross-sectional survey was available from April 3, 2023 to June 30, 2023. The survey, consisting of 23 questions, focused on VR knowledge, attitudes, and the support required by speech and language therapists to incorporate VR into clinical practice. Dissemination occurred through the Royal College of Speech and Language Therapists Clinical Excellence Networks to recruit speech therapists specializing in autism. RESULTS: Analysis included a total of 53 responses from the cross-sectional survey. Approximately 92% (n=49) of speech and language therapists were aware of VR but had not used it, and 1.82% (n=1) had used VR with autistic children. Three key themes that emerged were (1) mixed general knowledge of VR, which was poor in relation to applications for autism; (2) positive and negative attitudes toward VR, with uncertainty about autism specific considerations for VR; and (3) barriers to adoption were noted and speech and language therapists required an improved neuro-affirming evidence base, guidelines, and training to adopt VR into clinical practice. CONCLUSIONS: While some speech and language therapists perceive VR as a promising intervention tool for autistic children, various barriers must be addressed before its full integration into the clinical toolkit. This study establishes a foundation for future co-design, development, and implementation of VR applications as clinical tools for autistic children., This study is the first to explore clinical implementation factors for the use of VR in SLT field, specifically with autistic children. Poor autism-specific VR knowledge, and mixed attitudes toward VR, highlight that specific barriers must be addressed before the technology can successfully integrate into the SLT clinical toolkit., Speech and language therapists require support from employers, funding, a robust neuro-affirming evidence base, and education and training to adopt VR into practice. Recommendations for a SLT VR education and training program for use with autistic children, are provided.

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6. Nisticò V, Del Giudice R, Serio F, Boido G, Ingrosso G, Lombardi F, Sanguineti C, Casula V, Baccara A, Chiudinelli E, Vairano F, Panzeri FM, Giori M, Inghilleri di Villadauro PM, Faggioli R, Gambini O, Subini T, Demartini B. Camera Movement Impacts on Mu-Wave Activity During Action Observation in Adults With Autism Spectrum Disorders Without Intellectual Disabilities. Autism Res. 2025.

The aim of this study was to investigate differences in mu-wave modulation in individuals diagnosed with autism spectrum disorder (ASD) without intellectual disabilities compared to a group of neurotypical controls (NT). Thirty autistic individuals and 30 NT underwent an EEG recording while watching short videos depicting goal-oriented action filmed from a fixed position, zooming in on the scene, and approaching the scene by means of a steadycam. Then, participants underwent a rating task to evaluate their subjective viewing experience. We found that steadycam videos elicited enhanced event-related desynchronization (ERD), suggestive of enhanced neural activity, in the NT group, and a reduced ERD in the autistic group, compared to the other filming conditions. Autistic participants also showed difficulties in returning to baseline mu-power levels after watching videos filmed from a fixed position. Finally, NT reported feeling more comfortable watching videos with movement, whereas autistic participants did not exhibit differences between conditions. We speculated that static, less naturalistic stimuli might impose higher and prolonged cognitive demands on autistic individuals. Understanding these differences might help develop tailored interventions to support perceptual, cognitive, and social processes of autistic people.

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7. Pantiru AD, Van de Sompele S, Ligneul C, Chatelain C, Barrea C, Lerch JP, Filippi BM, Alkan S, De Baere E, Johnston J, Clapcote SJ. Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice. Mol Autism. 2025; 16(1): 14.

BACKGROUND: Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is a rare syndromic intellectual disability (ID) caused by homozygous disruption of PDZD8 (PDZ domain-containing protein 8), an integral endoplasmic reticulum (ER) protein. All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine whether autistic behavior is a common outcome of PDZD8 disruption, we studied a third family with biallelic mutation of PDZD8 (family C) and further characterized PDZD8-deficient (Pdzd8(tm1b)) mice that exhibit stereotyped motor behavior relevant to ASD. METHODS: Homozygosity mapping, whole-exome sequencing, and cosegregation analysis were used to identify the PDZD8 variant responsible for IDDADF, including diagnoses of ASD, in consanguineous family C. To assess the in vivo effect of PDZD8 disruption on social responses and related phenotypes, behavioral, structural magnetic resonance imaging, and microscopy analyses were conducted on the Pdzd8(tm1b) mouse line. Metabolic activity was profiled using sealed metabolic cages. RESULTS: The discovery of a third family with IDDADF caused by biallelic disruption of PDZD8 permitted identification of a core clinical phenotype consisting of developmental delay, ID, autism, and facial dysmorphism. In addition to impairments in social recognition and social odor discrimination, Pdzd8(tm1b) mice exhibit increases in locomotor activity (dark phase only) and metabolic rate (both lights-on and dark phases), and decreased plasma triglyceride in males. In the brain, Pdzd8(tm1b) mice exhibit increased levels of accessory olfactory bulb volume, primary olfactory cortex volume, dendritic spine density, and ER stress- and mitochondrial fusion-related transcripts, as well as decreased levels of cerebellar nuclei volume and adult neurogenesis. LIMITATIONS: The total number of known cases of PDZD8-related IDDADF remains low. Some mouse experiments in the study did not use balanced numbers of males and females. The assessment of ER stress and mitochondrial fusion markers did not extend beyond mRNA levels. CONCLUSIONS: Our finding that the Pdzd8(tm1b) mouse model and all six known cases of IDDADF exhibit autistic behavior, with ASD diagnosed in five cases, identifies this trait as a common outcome of biallelic disruption of PDZD8 in humans and mice. Other abnormalities exhibited by Pdzd8(tm1b) mice suggest that the range of comorbidities associated with PDZD8 deficiency may be wider than presently recognized.

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