1. Collis RB. The design of the « autistics in (educational) space: building our own futures » doctoral project. Autism;2025 (Mar 29):13623613251328495.

As an autistic researcher and doctoral candidate, I have designed my dissertation research in a way that values the lived experience of my four autistic participants. Using their responses to a series of material objects and a science fiction novel by, and about, an autistic person, I hope to find new and innovative ways to reconceptualize inclusive education in high school. This article explains my theoretical framework and methodology, as well as some preliminary results and discussion.Lay AbstractI am autistic and a PhD student and I look for ways to learn from other autistic people. I gave a group of 4 autistic participants 14 items and asked them to do something with each of them, then send me pictures of what they did. We also all read a science fiction novel written by an autistic author and talked about what we thought was interesting or that felt familiar to us. By using what they shared with me, I want to find ways to make high school more comfortable for autistic students. In this article, I describe how I came up with this plan, what I did, and some of the first things I discovered.

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2. Deri E, Kumar Ojha S, Kartawy M, Khaliulin I, Amal H. Multi-omics study reveals differential expression and phosphorylation of autophagy-related proteins in autism spectrum disorder. Sci Rep;2025 (Mar 29);15(1):10878.

Our multi-omics study investigated the molecular mechanisms underlying autism spectrum disorder (ASD) using Shank3(Δ4-22) and Cntnap2(-/-) mouse models. Through global- and phospho- proteomics of the mouse cortex, we focused on shared molecular changes and found that autophagy was particularly affected in both models. Global proteomics identified a small number of differentially expressed proteins that significantly impact postsynaptic components and synaptic function, including key pathways such as mTOR signaling. Phosphoproteomics revealed unique phosphorylation sites in autophagy-related proteins such as ULK2, RB1CC1, ATG16L1, and ATG9, suggesting that altered phosphorylation patterns contribute to impaired autophagic flux in ASD. SH-SY5Y cells with SHANK3 gene deletion showed elevated LC3-II and p62 levels, indicating autophagosome accumulation and autophagy initiation, while the reduced level of the lysosomal activity marker LAMP1 suggested impaired autophagosome-lysosome fusion. The study highlights the involvement of reactive nitrogen species and nitric oxide (NO) on autophagy disruption. Importantly, inhibition of neuronal NO synthase (nNOS) by 7-NI normalized autophagy markers levels in the SH-SY5Y cells and primary cultured neurons. We have previously shown that nNOS inhibition improved synaptic and behavioral phenotypes in Shank3(Δ4-22) and Cntnap2(-/-) mouse models. Our multi-omics study reveals differential expression and phosphorylation of autophagy-related proteins in ASD but further investigation is needed to prove the full involvement of autophagy in ASD. Our study underscores the need for further examination into the functional consequences of the identified phosphorylation sites, which may offer potential novel therapeutic autophagy-related targets for ASD treatment.

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3. Di Luca DG, Ushe M, Norris SA, Alfradique-Dunham I, Glasser M, Nazeri A, Kotzbauer P, Willie JT. Long-Term Outcome of Unilateral Magnetic Resonance Imaging-Guided Focused Ultrasound for Fragile X Tremor Ataxia Syndrome. Mov Disord Clin Pract;2025 (Mar 29)

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4. Dominguez-Alonso S, Tubío-Fungueiriño M, González-Peñas J, Fernández-Prieto M, Parellada M, Arango C, Carracedo A, Rodriguez-Fontenla C. Alternative splicing analysis in a Spanish ASD (Autism Spectrum Disorders) cohort: in silico prediction and characterization. Sci Rep;2025 (Mar 28);15(1):10730.

Autism Spectrum Disorders (ASD) are complex and genetically heterogeneous neurodevelopmental conditions. Although alternative splicing (AS) has emerged as a potential contributor to ASD pathogenesis, its role in large-scale genomic studies has remained relatively unexplored. In this comprehensive study, we utilized computational tools to identify, predict, and validate splicing variants within a Spanish ASD cohort (360 trios), shedding light on their potential contributions to the disorder. We utilized SpliceAI, a newly developed machine-learning tool, to identify high-confidence splicing variants in the Spanish ASD cohort and applied a stringent threshold (Δ ≥ 0.8) to ensure robust confidence in the predictions. The in silico validation was then conducted using SpliceVault, which provided compelling evidence of the predicted splicing effects, using 335,663 reference RNA-sequencing (RNA-seq) datasets from GTEx v8 and the sequence read archive (SRA). Furthermore, ABSplice was employed for additional orthogonal in silico confirmation and to elucidate the tissue-specific impacts of the splicing variants. Notably, our analysis suggested the contribution of splicing variants within CACNA1I, CBLB, CLTB, DLGAP1, DVL3, KIAA0513, OFD1, PKD1, SLC13A3, and SCN2A. Complementary datasets, including more than 42,000 ASD cases, were employed for gene validation and gene ontology (GO) analysis. These analyses revealed potential tissue-specific effects of the splicing variants, particularly in adipose tissue, testis, and the brain. These findings suggest the involvement of these tissues in ASD etiology, which opens up new avenues for further functional testing. Enrichments in molecular functions and biological processes imply the presence of separate pathways and mechanisms involved in the progression of the disorder, thereby distinguishing splicing genes from other ASD-related genes. Notably, splicing genes appear to be predominantly associated with synaptic organization and transmission, in contrast to non-splicing genes (i.e., genes harboring de novo and inherited coding variants not predicted to alter splicing), which have been mainly implicated in chromatin remodeling processes. In conclusion, this study advances our comprehension of the role of AS in ASD and calls for further investigations, including in vitro validation and integration with multi-omics data, to elucidate the functional roles of the highlighted genes and the intricate interplay of the splicing process with other regulatory mechanisms and tissues in ASD.

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5. Edmunds SR, Tagavi DM, Harker CM, DesChamps T, Stone WL. Quality of life in caregivers of toddlers with autism features. Res Dev Disabil;2025 (Mar 27);161:104999.

Understanding factors that contribute to the quality of life (QoL) of primary caregivers of young autistic children can help researchers and clinicians provide high-quality support to caregivers and families. This study examined whether family demographic factors, parenting stress, and caregivers’ perceptions of family-centered healthcare experiences uniquely predict caregivers’ QoL. Participants were caregivers of toddlers with: features of autism (n = 119), other developmental delays (n = 101), and no developmental concerns (n = 264). We hypothesized that higher levels of perceived family-centered care would moderate (ameliorate) the relation between parenting stress and QoL. Higher levels of perceived family-centered care were associated with higher QoL for all groups but did not moderate the negative relation between parenting stress and QoL. Negative effects of parenting stress on QoL were stronger for caregivers of children with autism features compared to other groups. Future research is needed to determine how to provide additional support to caregivers with lower QoL, particularly caregivers who are experiencing income- or parenting-related stress and lower levels of family-centered care. Caregiver QoL is especially important to support across service settings (e.g., primary care, early intervention) during the birth-to-three period, when the process of accessing autism services can be challenging for caregivers.

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6. Gumusoglu SB, Schickling BM, Santillan DA, Teesch LM, Santillan MK. Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder. J Neurodev Disord;2025 (Mar 29);17(1):16.

BACKGROUND: Despite the power and promise of early detection and treatment in autism spectrum disorder (ASD), early-life biomarkers are limited. An early-life risk biosignature would advance the field’s understanding of ASD pathogenies and targets for early diagnosis and intervention. We therefore sought to add to the growing ASD biomarker literature and evaluate whether fetal metabolomics are altered in idiopathic ASD. METHODS: Banked cord blood plasma samples (N = 36 control, 16 ASD) were analyzed via gas chromatography and mass spectrometry (GC-MS). Samples were from babies later diagnosed with idiopathic ASD (non-familial, non-syndromic) or matched, neurotypical controls. Metabolite set enrichment analysis (MSEA) and biomarker prediction were performed (MetaboAnalyst). RESULTS: We detected 76 metabolites in all samples. Of these, 20 metabolites differed significantly between groups: 10 increased and 10 decreased in ASD samples relative to neurotypical controls (p < 0.05). MSEA revealed significant changes in metabolic pathways related to carbohydrate metabolism and glycemic control. Untargeted principle components analysis of all metabolites did not reveal group differences, while targeted biomarker assessment (using only Fructose 6-phosphate, D-Mannose, and D-Fructose) by a Random Forest algorithm generated an area under the curve (AUC) = 0.766 (95% CI: 0.612-0.896) for ASD prediction. CONCLUSIONS: Despite a high and increasing prevalence, ASD has no definitive biomarkers or available treatments for its core symptoms. ASD's earliest developmental antecedents remain unclear. We find that fetal plasma metabolomics differ with child ASD status, in particular invoking altered carbohydrate metabolism. While prior clinical and preclinical work has linked carbohydrate metabolism to ASD, no prior fetal studies have reported these disruptions in neonates or fetuses who go on to be diagnosed with ASD. Future work will investigate concordance with maternal metabolomics to determine maternal-fetal mechanisms.

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7. Logos K, Lim A, Brewer N, Young RL. The Behavioral Presentation of Autistic Adults in a Forensic Interview. J Autism Dev Disord;2025 (Mar 29)

Autism diagnostic criteria, and research primarily involving autistic children, highlight verbal and nonverbal behaviors likely to manifest during social interaction that may generate unfavorable impressions of interaction partners (e.g., poor credibility, incompetence). These behaviors are thought to bias evaluations of autistic individuals, particularly within high-stakes contexts (e.g., police or employment interviews). However, the prevalence of those behaviors in autistic adults is unclear. IQ-matched samples of autistic (n = 43) and non-autistic (n = 41) adults participated in a simulated chatroom, exposed to text-based conversations about illegal hacking. Participants were then interviewed about the chatroom in a one-on-one video-recorded online interview with the researcher. We measured the prevalence of 19 verbal and nonverbal behaviors, and memory report characteristics displayed by the interviewees, and investigated differences between the diagnostic groups. Diagnosis had a strong effect on overall behavioral displays but was only associated with minor differences in individual behaviors. Three significant effects indicated greater difficulty interpreting figurative language, longer speech hesitations, and greater verbal intonation for autistic than non-autistic adults. Inter-individual variability within groups and within-individual variability across behaviors highlighted that behaviors were neither ubiquitous nor consistently displayed in combination. There was also a suggestion of more noticeable differences in the behavior of male than female autistic adults. Although minor behavioral differences were detected based on diagnosis, they included behaviors that could lead to negative outcomes for autistic individuals during high-stakes interactions. Whether more pronounced behavioral differences are detected during face-to-face interactions warrants further research.

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8. Lushin V, Marcus S, Tao S, Engstrom M, Roux A, Shea L. Comparing the prevalence of substance use disorders between persons with and without autism spectrum disorders. Autism;2025 (Mar 29):13623613251325282.

Recent research has suggested that people with autism spectrum disorder may be disproportionately at risk of substance use disorders. This study analyzed national-level Medicaid Claims data to compare substance use disorder prevalence among Medicaid enrollees with autism spectrum disorder (N = 388,426) and a random sample of enrollees without autism spectrum disorder (n = 745,699) and to examine whether this association differs across sex and age groups and changes after adjusting for co-occurring mental health conditions. We also examined how the association between autism spectrum disorder and substance use disorder is moderated by co-occurring non-autism spectrum disorder mental health conditions and by community-level social determinants of health by merging Medicaid Claims data with zip code-level US Census data on socioeconomic deprivation. By 2016, 7% of Medicaid beneficiaries with autism spectrum disorder and no intellectual disability had at least one substance use disorder diagnosis, up from 1.75% USD prevalence among enrollees with autism spectrum disorder (no intellectual disability) in 2012 Medicaid data. Individuals with autism spectrum disorder aged 30-64 years were at an elevated risk of cannabis and hallucinogen disorders; this risk is likely compounded by co-occurring mental health conditions, which affect a half of all individuals with autism spectrum disorder and only 23% of individuals without autism spectrum disorder. Research and policy implications are discussed in turn.Lay abstractRecent research has suggested that people with autism spectrum disorder may be disproportionately at risk of substance use disorders. The present study analyzed national-level Medicaid Claims data to compare substance use disorder prevalence among Medicaid beneficiaries with autism spectrum disorder and without autism spectrum disorder and to examine whether this association differs across sex and age groups and depends on mental health conditions besides autism. We also examined how the association between autism spectrum disorder and substance use disorder is moderated by co-occurring non-autism spectrum disorder mental health conditions and by community-level social determinants of health. For the latter purpose, Medicaid Claims data were merged with zip code-level US Census data on socioeconomic deprivation. Our analyses demonstrated that, by 2016, 7% of Medicaid enrollees with autism spectrum disorder and no intellectual disability had at least one substance use disorder diagnosis, up from 1.75% USD prevalence among enrollees with autism spectrum disorder (no intellectual disability) in 2012 Medicaid data. Individuals with autism spectrum disorder aged 30-64 years are at an elevated risk of cannabis and hallucinogen use disorders, while this risk is likely compounded by co-occurring mental health conditions, which affect a half of all individuals with autism spectrum disorder and only 23% of individuals without autism spectrum disorder. Research and policy implications are discussed in turn.

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9. Mou QH, Zhang Q, Chen L, Dai Y, Wei H, Jia FY, Hao Y, Li L, Zhang J, Wu LJ, Ke XY, Yi MJ, Hong Q, Chen JJ, Fang SF, Wang YC, Wang Q, Chen J, Li TY, Yang T. Gender specific influence of serotonin on core symptoms and neurodevelopment of autism spectrum disorders: A multicenter study in China. Child Adolesc Psychiatry Ment Health;2025 (Mar 29);19(1):35.

BACKGROUND: High serotonin (5-hydroxytryptamine [5-HT]) blood levels are the most reliable and frequently replicated biomarker for autism spectrum disorders (ASDs). However, their differential influence on core ASD symptoms in males and females remains unclear. This study aimed to investigate the changes in 5-HT levels in children with ASD to assess and compare its influence on the core symptoms and neurodevelopment of boys and girls. METHODS: Herein, 1,457 ASD children and 1,305 typically developing (TD) controls (age = 2-7 years) were enrolled from 13 cities across China. Social Responsiveness Scale (SRS) and Childhood Autism Rating Scale (CARS) were used to evaluate the ASD symptoms in children, and the revised Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016) was used to evaluate their neurodevelopment. The 5-HT serum levels were measured by high-performance liquid chromatography-tandem mass spectrometry. RESULTS: In boys with ASD, increased serum 5-HT levels correlated with high scores on SRS and CARS and with communication warning behavior of CNBS-R2016. Conversely, concomitant decline was observed in the scores on the general, language, gross motor, adaptive behavior, and personal-social quotients. Notably, no differences were found in girls with ASD. CONCLUSIONS: Children with ASD, especially boys, presented higher serum 5-HT levels compared with TD children. Additionally, increased 5-HT content is considerably positively associated with core ASD symptoms and negatively associated with neurodevelopment in boys with ASD. Overall, this study highlights the gender bias in patients with ASD regarding 5-HT serum levels, underscoring its influence on ASD prevalence in a sex-specific manner. TRIAL REGISTRATION: This study has been approved by the Ethics Committee of the Children’s Hospital of Chongqing Medical University (approval number: (2018) IRB (STUDY) NO.121). Additionally, this study is registered with the China Clinical Trial Registry (Registration Number: ChiCTR2000031194).

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10. Pagán AF, Kenemore J, Ahlenius MM, Hernandez L, Armstrong S, Loveland KA, Acierno R. Launching! To Adulthood, A Culturally Adapted Treatment Program for Military-Dependent Autistic Young Adults and Their Military Parents: A Pilot Study. Mil Med;2025 (Mar 29)

INTRODUCTION: Military-dependent young adults (17-25 years old) with autism spectrum disorder (ASD) face significant barriers to accessing services during their transition to adulthood. Frequent relocations, disrupted care, and limited ASD-tailored interventions exacerbate the challenges for these families, with many young adults experiencing a « service cliff » as they age out of pediatric care and school-based services. Addressing these gaps is critical, particularly given the rising mental health challenges and executive dysfunction in this population. This study evaluates the preliminary efficacy of an adapted telehealth intervention, the Military-Launching! program, designed to support young adults with ASD and their military families. MATERIALS AND METHODS: A repeated measures design was used to evaluate changes in functioning, self-efficacy, and quality of life among 20 military-dependent young adults with ASD and 34 of their parents. Participants completed measures at baseline, mid-treatment, and post-treatment. Young adults met ASD diagnostic criteria and exclusion criteria included intellectual disability (IQ < 75) or severe mental health conditions. Recruitment was facilitated through military programs at bases in Texas. RESULTS: Significant improvements were observed in young adults' social cognition (η = 0.52, P = .016) and executive functioning (BRIEF-A GEC, η = 0.26, P = .016). Parents reported significant reductions in stress (BRIEF-A BRI, η = 0.28, P = .004) and enhanced quality of life in social relationships (WHOQOL-BREF, P = .047). While adaptive functioning improvements were limited to specific subscales, parent-perceived transition readiness showed a large effect size (η = 0.36). CONCLUSIONS: Preliminary findings suggest that the Military-Launching! program improves social cognition, executive functioning, and family outcomes for military-dependent young adults with ASD. Tailored, evidence-based interventions addressing co-occurring mental health and military-specific stressors are essential for fostering successful transitions to adulthood.

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11. Stefanyshyn V, Stetsyuk R, Hrebeniuk O, Ayoub G, Fishchuk L, Rossokha Z, Gorovenko N. Analysis of the Association Between the SLC19A1 Genetic Variant (rs1051266) and Autism Spectrum Disorders, Cerebral Folate Deficiency, and Clinical and Laboratory Parameters. J Mol Neurosci;2025 (Mar 29);75(2):42.

Autism spectrum disorders (ASD) are characterized by clinical heterogeneity and may be associated with cerebral folate deficiency (CFD). Among the causes, folate receptor alpha autoantibodies (FRAA) and variants of the SLC19A1 gene are commonly highlighted. The aim of this study was to analyze the rs1051266 variant of the SLC19A1 gene in patients with ASD and CFD and to determine its relationship with clinical and laboratory parameters. The study included 227 children with ASD, 156 of whom had CFD. FRAA detection, genotyping of the rs1051266 variant, and folate metabolism marker measurement (homocysteine, vitamins B9, B12, B6) were performed. FRAA binding was detected in 39.2% of ASD patients, blocking FRAA in 3.5%, and a specific soluble folate receptor in 13.2%. The 80GA genotype was the most common (46.3%), and homocysteine levels tended to be moderately elevated (upper quartile – 7.0). Significant correlations were found between homocysteine levels and vitamins B9, B12, and B6 (p < 0.05) and between verbal impairments and vitamin B12 (p = 0.043). In ASD and CFD patients, the 80GG genotype was more frequent (p = 0.03) and vitamin B12 levels were elevated (p = 0.021). In the ASD group, correlations were found between the 80AA genotype and demyelination (p = 0.020) and between homocysteine levels and demyelination (p = 0.042). In conclusion, the rs1051266 variant of the SLC19A1 gene modifies the clinical course of ASD. Patients with ASD and CFD exhibited high variability in folate metabolism markers. These findings underline the need for further research on folate transport genetics for personalized prevention and treatment strategies for ASD and CFD.

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12. Teoh Y, Garg P, Karyadiguna N, Vivekanandarajah S, So L, Hurwitz R, Raman S. Caregiver experiences of accessing a child developmental assessment service in a culturally diverse population in Australia: a mixed methods study. BMJ Paediatr Open;2025 (Mar 28);9(1)

BACKGROUND: While there is a high level of concern among parents about waiting for child developmental services, there is limited research on caregiver perspectives on accessing public developmental diagnostic services, especially for families from culturally diverse backgrounds. We aimed to explore caregiver perspectives and satisfaction after attending a Child Developmental Assessment Service (CDAS) appointment for their child in South Western Sydney, as part of a large quality improvement project. METHODS: Over a 6-month period between June and December 2022, we surveyed caregivers after their child’s first CDAS appointment, using an adapted caregiver questionnaire that contained Likert scale and free-text responses. We analysed the data using simple descriptive and thematic data analysis. RESULTS: Of 107 caregiver satisfaction questionnaires completed, almost two-thirds (63%) were from culturally and linguistically diverse backgrounds. Over 90% caregivers reported a satisfaction response of ‘Agree’ to ‘Strongly Agree’, 88% felt that the assessment was suitable to their child’s needs and 85% considered waiting times reasonable. The mean overall caregiver satisfaction score was 4.5 (SD 1.1). About 30% of families had doubts about their child’s neurodevelopmental diagnosis. The themes identified from free-text responses were (1) positive caregiver experience; (2) clinician attributes; (3) quality of the service delivery; (4) information received. Caregivers expressed very high levels of satisfaction with the quality of service and clinicians’ skills, appreciated enhanced understanding of their child’s development and found the assessment helpful. CONCLUSIONS: Our study showed surprisingly high levels of caregiver satisfaction in attending a neurodevelopmental assessment service, in a culturally diverse metropolitan setting. Our findings support the importance of providing interpersonal sensitivity and family-centred practice for children with neurodevelopmental difficulties. We need to respond to the families who disagreed with the diagnostic formulation or were dissatisfied with the service, to improve the service quality, using longitudinal evaluation and more in-depth qualitative analysis.

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13. Tsukui N, Nomura Y, Newcorn JH, Takahashi N, Ishikawa-Omori Y, Nakayasu C, Okumura A, Iwabuchi T, Harada T, Rahman MS, Nishimura T, Tsuchiya KJ. Temperament Profiles at Age 18 Months as Distinctive Predictors of Elevated ASD- and ADHD-Trait Scores and Their Co-Occurrence at Age 8-9: HBC Study. Res Child Adolesc Psychopathol;2025 (Mar 29)

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) can be traced back to specific early childhood temperament patterns. However, no unique pattern has been identified for their co-occurrence. Given that children with both traits often require more clinical attention, this study aimed to discover such patterns by examining three temperament domains measured during early childhood-Surgency/Extraversion (SE), Negative Affectivity (NA), and Effortful Control (EC)-and their association with group membership defined as being above the cut-off points for either ASD- or ADHD-trait scores or their co-occurrence at school age. We enrolled 814 children from a birth cohort, assessing temperament at 18 months using the Early Childhood Behavior Questionnaire, and ASD- and ADHD-trait scores at ages 8-9 using the Social Responsiveness Scale-2 and ADHD-Rating Scale. Group membership was determined by clinically significant symptoms, defined as + 1 SD after standardizing scores by age and sex. Multinomial regression analyses examined associations between temperament domain scores and group membership (ASD-dominant, ADHD-dominant, co-occurring, neither-ASD-nor-ADHD). The co-occurring group showed a unique temperament profile, with higher scores in both NA and EC (OR in NA = 1.48, 95% confidence interval (CI): 1.11 to 1.96 and OR in EC = 1.61, 95% CI: 1.18 to 2.20), distinct from the patterns shown by the ASD-dominant and ADHD-dominant groups. The combination of high NA and EC scores uniquely characterizes the co-occurring group, highlighting the need for early temperament assessments to identify children potentially requiring clinical attention for both ASD and ADHD traits.

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14. Yang JQ, Wang C, Nayak RC, Kolla M, Cai M, Pujato M, Zheng Y, Lu QR, Guo F. Genetic and epigenetic regulation of Treg cell fitness by autism-related chromatin remodeler CHD8. Cell Mol Biol Lett;2025 (Mar 28);30(1):36.

BACKGROUND: Chromatin remodeler chromodomain helicase DNA-binding protein 8 (CHD8) defines a subtype of autism that is associated with immune disorders. It remains unknown whether CHD8 plays a cell-intrinsic role in immune cells such as regulatory T cells (Tregs) that maintain immune tolerance through suppressing CD4(+) and CD8(+) effector T cells. METHODS: Treg-specific conditional CHD8-deficient mice were generated by crossing Chd8(Flox/Flox) mice with Foxp3(YFP-cre) transgenic mice. Effects of CHD8 deficiency were investigated using hematoxylin and eosin (H&E) staining, flow cytometry, and multi-omics, including RNA-sequencing (RNA-seq), assay for transposase-accessible chromatin sequencing (ATAC-seq), and chromatin immunoprecipitation sequencing (CHIP-seq). RESULTS: We found that Treg-specific CHD8 deletion led to early, fatal inflammation owing to increased CD4(+) and CD8(+) effector T cells. CHD8 deletion did not alter Treg homeostasis but increased their functional plasticity with elevated expression of effector T cell cytokines. CHIP-seq of Tregs uncovered that CHD8 binding genes were enriched in phosphatidylinositol-3 kinase (PI3K)-protein kinase B (Akt)-mammalian target of rapamycin (mTOR) signaling and several other pathways. RNA-seq and ATAC-seq revealed that CHD8 deletion upregulated a number of pathways, notably mammalian target of rapamycin complex 1 (mTORC1) signaling and its mediated glycolysis that have been reported to promote Treg plasticity. Integrating RNA-seq data with CHIP-seq and ATAC-seq data identified a number of CHD8 target genes whose expression depends on CHD8 direct binding-mediated chromatin remodeling. CONCLUSIONS: Our findings suggest that CHD8 plays an important role in maintaining Treg fitness through genetic and epigenetic mechanisms to control autoimmunity, which may have important implications in immune changes in autism.

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