Pubmed du 07/08/25
1. Uncovering my hidden autism. Bmj. 2025; 390: r1359.
Lien vers le texte intégral (Open Access ou abonnement)
2. Angell AM, Li Y, Bian J, Parchment C, Yin L, Chamala S, Hakimjavadi H, Thompson L, Guo Y. Algorithmic Fairness in Machine Learning Prediction of Autism Using Electronic Health Records. Stud Health Technol Inform. 2025; 329: 1180-4.
Efforts to improve early diagnosis of autism spectrum disorder (ASD) in children are beginning to use machine learning (ML) approaches applied to real-world clinical datasets, such as electronic health records (EHRs). However, sex-based disparities in ASD diagnosis highlight the need for fair prediction models that ensure equitable performance across demographic groups for ASD identification. This retrospective case-control study aimed to develop ML-based prediction models for ASD diagnosis using risk factors found in EHRs and assess their algorithmic fairness. The study cohorts included 70,803 children diagnosed with ASD and 212,409 matched controls without ASD. We built logistic regression and Xgboost models and evaluated their performance using standard metrics, including accuracy, recall, precision, F1-score, and area under the curve (AUC). To assess fairness, we examined model performance by sex and calculated fairness-specific metrics, such as equal opportunity (recall parity) and equalized odds, to identify potential biases in model predictions between boys and girls. Our results revealed significant fairness issues in ML models for ASD prediction using EHRs.
Lien vers le texte intégral (Open Access ou abonnement)
3. Blanchard A, Chihuri S, Ing C, DiGuiseppi C, Li G. Association between autism spectrum disorder and intentional self-harm. Inj Epidemiol. 2025; 12(1): 47.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by persistent challenges in communication and social interaction and, often accompanied by restricted and repetitive patterns of behavior and interests. The reported prevalence of ASD in the United States has tripled in the past two decades. Recent studies indicate that ASD is associated with increased self-injurious behaviors. The purpose of this study is to assess the excess risk of intentional self-harm associated with ASD. METHODS: Using a repeated cross-sectional study design, we analyzed data from the 2016-2020 Nationwide Emergency Department Samples (NEDS), the largest all-payer emergency department (ED) database in the United States. ED visits for intentional self-harm were identified using the ICD-10-CM external cause-of-injury matrix. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) of ED-treated intentional self-harm associated with ASD in the presence or absence of co-occurring attention-deficit hyperactivity disorder (ADHD) and/or intellectual disability (ID) were estimated through multivariable logistic regression. RESULTS: The 2016-2020 NEDS recorded an unweighted total of 159,590,866 ED visits, of which 2,570,446 (1.6%) were related to intentional self-harm. Using weighted data, intentional self-injury accounted for 2.3% of ED visits made by patients with a diagnosis of ASD, 3.9% of ED visits by patients with a diagnosis of ADHD, and 3.3% of ED visits by patients with a diagnosis of ID. Compared to patients without ASD or ADHD/ID, patients with ASD alone had a 65% increased odds of intentional self-harm (aOR = 1.65; 95% CI: 1.60, 1.70); in addition, patients with ADHD/ID but no ASD a 186% increased odds (aOR = 2.86; 95% CI: 2.83, 2.88), and patients with both ASD and ADHD/ ID a 170% increased odds (aOR = 2.70; 95% CI: 2.58, 2.82) of intentional self-harm. Poisoning accounted for 82.3% of the intentional self-harm-related ED visits among patients without ASD and 61.0% of intentional self-harm-related ED visits among patients with ASD. CONCLUSIONS: ASD is associated with a significantly increased risk of ED-treated intentional self-harm, particularly in patients with co-occurring ADHD or ID. Poisoning from psychotropic and other pharmaceutical drugs is the leading mechanism of intentional self-harm.
Lien vers le texte intégral (Open Access ou abonnement)
4. Boulé M, Rivard M, Mello C. Parents’ Emotional Journey Throughout Their Participation in a Well-Being Support Group Intervention. J Appl Res Intellect Disabil. 2025; 38(4): e70107.
BACKGROUND: Family carers often lack support for their own well-being as they navigate diagnostic and early intervention services for intellectual and developmental disabilities. METHODS: This study explored the emotional journey of carers during Early Positive Approaches to Support, an 8-week group program. Participants journaled their emotional experiences at the beginning and end of each session. RESULTS: There was a significant increase in comfortable emotions and a decrease in uncomfortable emotions by the program’s end. CONCLUSIONS: These findings suggest that the program improved carers’ ability to self-regulate their emotions and manage challenges. This study also highlights the value of self-observation to understand carers’ emotional landscapes in interventions targeting their well-being.
Lien vers le texte intégral (Open Access ou abonnement)
5. Falcon A, Porter A, Wallace B, Tatavitto J, Aaronson G, Wiles A, Ryan R, Rosenbloom L. Disability disclosure in healthcare settings for individuals with developmental disabilities: A qualitative study of patient and caregiver perspectives. PLoS One. 2025; 20(8): e0329328.
BACKGROUND: People with disabilities experience significant healthcare disparities, including missed opportunities for preventive, inaccessible services, and inadequate communication with providers. These challenges often lead to unmet healthcare needs and poor health outcomes. Disability disclosure is one strategy that may aid in closing this healthcare equity gap, though limited research sheds light on patient and caregiver feelings towards and preferences for disclosure. OBJECTIVE: This study assessed comfort with and preferences for disability disclosure within healthcare settings among individuals with developmental disabilities and caregivers of individuals with developmental disabilities. METHODS: An exploratory qualitative research design was employed, utilizing semi-structured interviews with 22 participants (10 patients and 12 caregivers) in South Florida. Data were transcribed and analyzed through thematic analysis to identify key themes related to disability disclosure in healthcare settings. RESULTS: Five main themes emerged. Two themes centered on the downside of disclosure (harm avoidance and disclosure utility), while two themes illuminated the upside of disclosure (disclosure necessity and reduced stigma). The final theme focused on disclosure preferences. CONCLUSIONS: Comfort with disability disclosure among patients and caregivers was largely motivated by a desire to avoid perceived pitfalls and secure quality healthcare. Findings confirm the persistence of inadequate healthcare delivered to patients with disabilities, and the beneficial role disability disclosure can play in addressing current deficiencies. With support of healthcare system leadership and other salient stakeholder groups, further research can inform development, implementation, and evaluation of disclosure systems that facilitate equitable care delivery and improve health outcomes among patients with developmental disabilities.
Lien vers le texte intégral (Open Access ou abonnement)
6. Imamatdinova A, Samambayeva A, Akhtaeva N, Kozhageldiyeva L, Sabyrdilda Z, Kapanova G, Kosherbayeva L. Autism spectrum disorders: experience of parents in Kazakhstan. BMC Public Health. 2025; 25(1): 2676.
BACKGROUND: Autism spectrum disorders (ASD) is a neurodevelopmental disorder manifested by a violation of the lack or deficiency of communication, socialization and repetitive behavior. The prevalence of ASD is rising globally. Early identification of children and comprehensive assistance are critical to reduce the burden. The purpose of our work is to study the current practice and experience of parents of children with ASD in obtaining care for their children and identify future directions for improving systemic care in Kazakhstan. METHODS: The multidisciplinary team of specialists, including parents of children with ASD were involved in developing the questionnaire that aimed to identify the gaps in complex care for children with ASD. A cross-sectional study was conducted for 390 parents of children with ASD from all regions, including urban and rural areas of Kazakhstan. Statistical analysis was performed using the chi-square test. RESULTS: Parents of children with ASD living in cities have higher income and education level compared to those living in rural areas. About 16.3% of the participants belonged to single-parent families, and a third of the families did not own their home. In most cases, only one parent (63.3%) was employed. Additionally, 25.4% of parents, especially mothers, had to quit their jobs, while 18.8% opted to change employment areas or shifts. Insufficient state financial support was reported by 73.3% of respondents, particularly with regard to the costs of education in correctional centers and child treatment, which were statistically significant. Respondents also highlighted the needs for legal advice. CONCLUSION: This study offers valuable insights into the current state of care and support for children with ASD in Kazakhstan. The findings emphasize the challenges faced by families in securing appropriate care for their children, particularly in relation to financial burden, limited access to specialists, and the need for comprehensive support systems.
Lien vers le texte intégral (Open Access ou abonnement)
7. Indika NR, Senarathne UD, Anandavadivel S, Senevirathne BS, Karunathilaka S, Dushmantha WKT, Abeysundara PA, Ekanayake S. Exploring the therapeutic potential of Bacopa monnieri in autism spectrum disorder: A comprehensive review. Fitoterapia. 2025; 186: 106788.
Bacopa monnieri is a traditional medicinal herb renowned for its nootropic properties. The plant extracts have been evaluated for its efficacy in addressing many neurological conditions. However, the efficacy of Bacopa monnieri is yet to be evaluated for autism spectrum disorder (ASD). This review explores and aligns the underlying pathogenic mechanisms in ASD with the molecular and functional characteristics of Bacopa monnieri to evaluate its potential as a therapy in ASD. Additionally, the review addresses strategies for overcoming its drawbacks due to heavy metal accumulation and bitter taste. A comprehensive literature search was conducted in PubMed and Google Scholar using specific keywords related to Bacopa monnieri (« Bacopa monniera, » « B. monnieri, » « Herpestis monniera, » « Moniera cuneifolia ») and those related to ASD, its co-occurring symptoms, and pathogenic mechanisms. Papers were chosen based on an initial screening process, and the evidence was narrated under identified key themes to provide a structured analysis of the therapeutic potential and mechanisms of action of Bacopa monnieri in ASD. Evidence indicated that oxidative stress, neuroinflammation, heavy metal toxicity, mitochondrial dysfunction, neurotransmitter imbalance, and altered cell signaling in ASD could be targeted by the molecular and functional characteristics of Bacopa monnieri, corroborating the potential of Bacopa monnieri to improve symptoms and co-occurring conditions in ASD. To validate these effects, clinical trials should assess primary outcomes related to the core symptoms of ASD, as well as secondary outcomes that focus on improvements in co-occurring conditions and metabolic alterations.
Lien vers le texte intégral (Open Access ou abonnement)
8. Jomy J, Chan H, McKinlay S, Mohamed S, Caplan B, Cohen R, Caplan L, Cohen L, Lynch J, Olesovky S, Reissner B. Engagement of students in care delivery for individuals with intellectual and developmental disabilities through interprofessional education. Can Med Educ J. 2025; 16(3): 85-6.
Patients with intellectual and developmental disabilities (IDD) do not receive quality medical care, resulting in health disparities. A key contributing factor to poor care delivery is the lack of standardized IDD curriculum in Canadian medical education. Many physicians and nurses report they do not feel confident in providing care for patients with IDD. It is imperative to design curriculum for medical and nursing students to build confidence and competency. At the University of Toronto, we delivered a 4-hour workshop that provides a framework for delivering IDD education that should be replicated at institutions Canada-wide to address this critical gap in training.
Lien vers le texte intégral (Open Access ou abonnement)
9. Kang E, Rosen TE, Keifer CM, Gerber AH, Lerner MD. A single-blind active-control randomized controlled trial of group-based social competence intervention. Sci Rep. 2025; 15(1): 28872.
This study evaluated specific effects of a blinded randomized controlled trial of a group-based social skills intervention, Socio-Dramatic Affective-Relational Intervention (SDARI), against an active attention control (AC) intervention. Fifty-five autistic youth (M(age)=12.40; SD(age)=2.92; 73% boys) were randomly allocated to either the SDARI or the AC condition. Both interventions comprised 10 weekly sessions and were tightly matched for structure, participant age, IQ, and gender, such that the specific activities of SDARI were directly examined. Multimethod assessments at pre-, post-treatment, and 10-week follow-up included informant-reported social skills and autism-related behaviors, observer-rated spontaneous peer interaction, peer-rated friendships, and a metric of social information processing (the N170 event-related potential). Parent expectancy effect was also explored by examining perceived conditions by parents/caregivers, who were blinded to the condition assignment. Compared to the AC condition, the SDARI group evinced improvements in the N170 latency, rapid peer-liking, and reciprocal friendships at endpoint and follow-up. While the conditions did not differ on parent-reported social skills or autism-related behaviors, a parental expectancy effect was found where parent-rated social skills improvements were related to parents’ perceived conditions. These results provide support for the efficacy of the specific SDARI activities on several objective, reliable outcomes of social functioning in autistic youth.
Lien vers le texte intégral (Open Access ou abonnement)
10. Karadag M, Turan MI, Celebi C, Caglar T. Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study. Mol Syndromol. 2025; 16(4): 354-65.
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive congenital metabolic disorder, which is characterized by the impairment of the enzymatic activity of sterol 27-hydroxylase. CTX, a rare neurodegenerative disease of sterol metabolism, can affect multiple systems, including the nervous system. It has been demonstrated that many congenital metabolic diseases like CTX are associated with autism spectrum disorder (ASD). The aim of this study was to identify the prevalence of CTX disease in patients with ASD. METHOD: The clinical conditions of all patients were evaluated using the Mignarri Scoring Index. A sociodemographic form and Gilliam Autism Rating Scale-2 were applied to all participants. RESULTS: In total, 101 children and adolescents with ASD were analyzed for genes. Following genetic analyses, 4 patients with mutations in the CYP27A1 gene, two homozygous variants, and two different heterozygous mutations were identified. Most common symptom was diarrhea. Overall, 67.3% of all patients and 3 in 4 cases with CYP27A1 gene mutation had gone through psychiatric evaluation. A family history of a psychiatric disorder was present in 19.8% of all cases and in 75% of cases with mutations. Moreover, all mutant cases had comorbid oppositional defiant disorder. A total of 81.2% of all patients and all mutant patients were diagnosed with a behavioral disorder. CONCLUSION: Psychiatric manifestations ranging from personality changes to behavioral disorders might accompany CTX. Better understanding and knowledge of the CTX disease by distinguishing specific psychiatric and systemic symptoms might help prevent missed diagnoses, progressive neurological deterioration, and permanent disability through early initiation of chenodeoxycholic acid treatment.
Lien vers le texte intégral (Open Access ou abonnement)
11. Kurosaki T, Cho H, Abshire ET, Pröschel C, Mitsutomi S, Sato H, Simko EAJ, Fraser CS, Sakano H, Maquat LE. FMRP drives mRNP targets into translationally silenced complexes. Mol Cell. 2025; 85(15): 2956-72.e10.
Fragile X syndrome (FXS) results from a deficiency of the ubiquitously expressed RNA-binding protein fragile X protein (FMRP). While FMRP-mediated translational repression has been attributed primarily to ribosome stalling, using immunoprecipitations and polysome profiling of non-polar- and polar-cell lysates and liquid chromatography-tandem mass spectrometry (LC-MS/MS) analyses, we show that mammalian FMRP largely represses translation initiation by associating with granule constituents to preclude 40S ribosomal subunit binding. We demonstrate that FMRP associates with its target mRNAs by binding directly to eukaryotic translation initiation factor 4E (eIF4E) at the 5′ cap in competition with eIF4G1 and that ataxin-2-like promotes FMRP binding to the transcribed body. The KH1 + KH2 domains of FMRP are critical for the co-immunoprecipitation of eIF4E, mRNA targets, ataxin-2-like, and PABPC1. Our findings supplement FMRP-mediated ribosome-stalling data, suggesting that FMRP largely mediates the sequestration of its mRNA targets from translation initiation and degradation in a network of FMRP molecules that simultaneously associate with cap-bound eIF4E, GC-rich mRNA regions, and poly(A)-bound PABPC1.
Lien vers le texte intégral (Open Access ou abonnement)
12. Li M, Qiao Z, Li J, Zhou H, Huang D, Cai Y, Li X, Zhang Z, Zhou J, Zhou J. Prenatal valproic acid on the basis of gestational diabetes also induces autistic behavior and disrupts myelination and oligodendroglial maturation slightly in offspring. Transl Psychiatry. 2025; 15(1): 271.
INTRODUCTION: Gestational diabetes mellitus (GDM) and prenatal exposure to valproic acid (VPA) are both constitute risk factors for autism in progeny. Notably, dysmyelination in the corpus callosum serves as a prominent element connecting GDM and autism in the white matter lesions. OBJECTIVE: The cumulative effects of GDM and prenatal VPA on both autistic behavior and dysmyelination in progeny have been investigated in this study. METHODS: In vivo, female mice exhibiting leptin receptor deficiencies and maintained on a high-fat diet were utilized to create GDM models, to which prenatal VPA was administered. In vitro, oligodendrocyte precursor cells (OPCs) were treated with VPA in the high-fat and high-glucose culture. RESULTS: The offspring subjected to both GDM and prenatal VPA demonstrated comparable declines in social interaction, myelination, and OPC maturation, akin to those exclusively exposed to VPA. Remarkably, the application of clemastine facilitated remyelination, ameliorated autistic behaviors, and promoted the progression of OPCs. Furthermore, the compromised myelination and OPC maturation instigated by the combination of GDM and prenatal VPA were found to be less severe compared to those precipitated by VPA alone. This differential impact can be attributed to the opposing influences of GDM and VPA on gamma-aminobutyric acid receptor activation in OPCs, extracellular regulated protein kinases (ERK) phosphorylation in OPCs, and the modulation of histone deacetylase 3 and dual specificity phosphatase 5 expression. CONCLUSIONS: we delineate the antagonistic effects of GDM and prenatal VPA on ERK phosphorylation in fetal OPCs, consequently altering their proliferation and differentiation, thereby culminating in milder dysmyelination and autistic behaviors.
Lien vers le texte intégral (Open Access ou abonnement)
13. Milo Rasouly H, Krishna Murthy SB, Vena N, Povysil G, Beenken A, Verbitsky M, Shril S, Lekkerkerker I, Yang S, Khan A, Fasel D, Wongboonsin J, Martino J, Ke J, Elefant N, Tomar N, Harnof O, Kisselev S, Bheda S, Reytan-Miron S, Lim TY, Jamry-Dziurla A, Lugani F, Zhang JY, Marasa M, Kolupaeva V, Groopman EE, Jin G, Ghavami I, Stevens KO, Coughlin AC, Kil BH, Chatterjee D, Bradbury D, Zheng J, Mehl K, Morban M, Reingold R, Piva S, Mu X, Mittrori A, Szmigielska A, Gliwińska A, Ranghino A, Bomback AS, Badenski A, Latos-Bielenska A, Capone V, Materna-Kiryluk A, Amoroso A, Izzi C, La Scola C, Cohen DJ, Santoro D, Drozdz D, Fiaccadori E, Lin F, Scolari F, Tondolo F, La Manna G, Appel GB, Ghiggeri GM, Zaza G, Montini G, Masnata G, Krzemien G, Pisani I, Radhakrishnan J, Zachwieja K, Gesualdo L, Biancone L, Meneghesso D, Mizerska-Wasiak M, Tkaczyk M, Zaniew M, Borszewska-Kornacka MK, Szczepanska M, Saraga M, Rao MK, Bodria M, Miklaszewska M, Uy NS, Baraldi O, Bjanid O, Esposito P, Zamboli P, Marzuillo P, Canetta PA, Sikora P, Westland R, Crew RJ, Alam S, Guarino S, Negrisolo S, Hays T, Mane S, Grandinetti V, Tasic V, Lozanovski VJ, Caliskan Y, Goldstein D, Lifton RP, Ionita-Laza I, Kiryluk K, van Eerde AM, Hildebrandt F, Sanna-Cherchi S, Gharavi AG. Exome analysis links kidney malformations to developmental disorders and reveals causal genes. Nat Commun. 2025; 16(1): 7290.
Congenital anomalies of the kidneys and urinary tract (CAKUT) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examine here rare coding variants in 248 CAKUT trios and 1742 singleton CAKUT cases and compare them to 22,258 controls. Diagnostic and candidate diagnostic variants are detected in 14.1% of cases. We find a significant enrichment of rare damaging variants in constrained genes expressed during kidney development and in genes associated with other developmental disorders, suggesting phenotype expansion. Consistent with these data, 18% of CAKUT patients with diagnostic variants have neurodevelopmental or cardiac phenotypes. We identify 40 candidate genes, including CELSR1, SSBP2, XPO1, NR6A1, and ARID3A. Two are confirmed as CAKUT genes: ARID3A and NR6A1. This study suggests that many yet-unidentified syndromes would be discoverable with larger cohorts and cross-phenotype analysis, leading to clarification of the genetic and phenotypic spectrum of developmental disorders.
Lien vers le texte intégral (Open Access ou abonnement)
14. Mokhwelepa LW, Sumbane GO, Ngwenya MW. The dynamic trajectory of autistic life and its changing challenges: a scoping review. BMC Psychiatry. 2025; 25(1): 769.
BACKGROUND: There is a noticeable knowledge vacuum on the ways in which autism interacts with the difficulties associated with aging, even though in recent decades there has been a growing recognition of the different needs and experiences of those on the autistic spectrum. Importantly, experiences across earlier life stages such as youth and young adulthood also influence later outcomes and warrant consideration within this dynamic trajectory, meaning the ongoing and evolving developmental path individuals follow throughout life. OBJECTIVES: This study aimed to review the existing literature on the unique needs, challenges, and experiences of autistic adults as they progress into later stages of life. METHODOLOGY: The scoping review was carried out by following a structure that included defining the research topic, finding pertinent studies, choosing studies, charting data, and ultimately compiling, summarizing, and synthesizing the findings, the scoping review was carried out. PubMed, PsycINFO, Google Scholar, and ScienceDirect are the databases that were used to perform an exhaustive search of the literature from 2010 to 2023. Studies were screened for inclusion based on predefined criteria. RESULTS: Despite an initially large dataset, only a limited number of studies directly addressed the intersection of autism and aging in sufficient depth. This review yielded only two themes: (1) Challenges experienced by adults with autism when aging; (2) interventions and support strategies. CONCLUSION: The important need for greater comprehension of the relationship between autism and aging was highlighted by this study. It exposed a wide range of difficulties that autistic adults encounter as they age, such as inequalities in healthcare and problems integrating into society. This review will contribute to a deeper understanding by highlighting the evolving challenges, unmet needs, and support mechanisms required by autistic adults as they age, offering insights for research, policy, and practice.
Lien vers le texte intégral (Open Access ou abonnement)
15. Orionzi B. Neurodiversity in Children From Historically Marginalized Communities. Pediatr Ann. 2025; 54(8): e257-e60.
Neurodiversity is a term that describes thinking and interacting with the world differently from « typical » thoughts and interactions as held by societal standards. Neurodiversity often highlights diagnoses, like autism spectrum disorder or attention-deficit/hyperactivity disorder, but may include several other developmental disorders. Primary care pediatricians are naturally tied to neurodiversity, as they are often on the forefront of identifying and evaluating for neurodivergent development. There are significant disparities that exist in diagnosing and managing developmental disorders for children from historically marginalized communities. A delay in diagnosis can hinder outcomes, as critical periods of intervention are best early on. When pediatricians use culturally responsive screening and intervention tools, alleviation of these disparities can occur. Combined with tools to improve early identification, as well as connecting health care to educational systems, pediatricians can contribute positively to the development of children with minoritized backgrounds and to the neurodiversity movement.
Lien vers le texte intégral (Open Access ou abonnement)
16. Pan Z, Gao Z, Chen J, Quan Y, Xu J, Liang X, Xie W, He X, Wu L. Does constipation affect the effectiveness of washed microbiota transplantation in treating autism spectrum disorders?. Front Neurosci. 2025; 19: 1602681.
PURPOSE: Washed microbiota transplantation (WMT) has been shown to improve the symptoms of Autism Spectrum Disorder (ASD). It’s currently unclear whether the presence of constipation affects the efficacy of WMT in children with ASD. This study aims to investigate whether constipation affects the efficacy of WMT in children with ASD. PATIENTS AND METHODS: To investigate the efficacy of WMT for ASD, we conducted a retrospective analysis of changes in ASD-related symptoms, sleep disturbances, gastrointestinal manifestations, intestinal barrier integrity, and gut microbiota composition in 103 ASD patients undergoing WMT. They were divided into two groups according to whether constipation was present or not before treatment. RESULTS: 1. Aberrant Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), and Sleep Disturbance Scale for Children (SDSC) scores in the non-constipation and constipation groups decreased with an increase in the number of WMT treatments. 2. Comparison of two groups: ABC scores in the non-constipation group decreased more after the first WMT course, whereas ABC scores in the constipation group decreased more after two WMT courses. 3. Intestinal Barrier Function: D-lactate levels decreased more in the constipation group after the first two courses. In general, WMT treatment had no significant effect on intestinal barrier function in patients with ASD. 4. Effect of WMT on constipation: As the number of WMT courses increased, Bristol Stool Form Scale (BSFS) scores in constipation group gradually approached 4. 5. Constipation group had lower microbial diversity than non-constipation group at baseline. After one course of WMT, constipation group showed an obvious increase in microbial diversity and a significant increase in the relative abundance of Bifidobacteria compared to non-constipation group. CONCLUSION: Post WMT, core symptoms and sleep disorders were significantly improved in both groups. Feces returned to normal shape in the constipation group. A difference in efficacy between the two groups was observed in early stages, but after multiple courses of WMT no difference in efficacy was noted. Although in the short-term, children with ASD and comorbid constipation showed a significant increase in microbial diversity after receiving WMT, mid-term outcomes indicate that constipation does not affect the efficacy of WMT in treating ASD.
Lien vers le texte intégral (Open Access ou abonnement)
17. Pecukonis M, Gerson J, Gustafson-Alm H, Wood M, Yücel M, Boas DA, Tager-Flusberg H. The neural bases of language processing during social and non-social contexts: a fNIRS study of autistic and neurotypical preschool-aged children. Mol Autism. 2025; 16(1): 40.
BACKGROUND: Little is known about how autistic children’s brains process language during real-world « social contexts, » despite the fact that challenges with language, communication, and social interaction are core features of Autism Spectrum Disorder (ASD). METHODS: We investigated the neural bases of language processing during social and non-social contexts in a sample of autistic and neurotypical (NT) preschool-aged children, 3-6 years old, living in the United States. Functional near-infrared spectroscopy was used to measure children’s brain response to « live language » spoken by a live experimenter during an in-person social context (i.e., book reading) and « recorded language » played via an audio recording during a non-social context (i.e., screen time). We examined within-group and between-group differences in the strength and localization of brain response to live language and recorded language, as well as correlations between children’s brain response to live language versus recorded language and their language skills, as measured by the Preschool Language Scales. RESULTS: In the NT group, brain response to live language was greater than brain response to recorded language in the right temporal parietal junction (TPJ). In the ASD group, the strength of brain response did not differ between conditions in any brain regions of interest after correction for multiple comparisons. Children who showed a greater difference in right TPJ brain response to live language versus recorded language had higher language skills; this significant correlation was driven by the ASD group. LIMITATIONS: Findings should be considered preliminary until they are replicated in a larger sample. CONCLUSIONS: Group level findings indicate that for NT children, but not autistic children, the right TPJ responds more strongly to live language presented during a social context compared to recorded language presented during a non-social context. However, individual differences in how the right TPJ responds to language during social versus non-social contexts may help to explain why language skills are so variable across children on the autism spectrum.
Lien vers le texte intégral (Open Access ou abonnement)
18. Rajpar NA, Kumari M, Khaskheli SA, Munir Abbasi SUA. Diagnosed by geography: The global divide in autism care. Asian J Psychiatr. 2025; 111: 104650.
Lien vers le texte intégral (Open Access ou abonnement)
19. Roisenberg BB, Boulton KA, Thomas EE, Guastella AJ. Cognitive-Behavior Therapy for Social Anxiety Does Not Increase Reports of Camouflaging Behavior in Autistic Adults: Results From an Exploratory Study. Autism Res. 2025.
Camouflaging has been defined as the masking or compensation of autistic traits during social interactions, often as a response to the stigma associated with autism and social expectations. Social anxiety has been closely linked to camouflaging, as autistic individuals may adopt camouflaging strategies to navigate social expectations and to reduce the risk of being negatively evaluated. Understanding the relationship between social anxiety and camouflaging in autism is essential for developing effective clinical interventions. This study investigated the effects of a modified Cognitive Behavioral Therapy (CBT) group intervention, the Engage Program, on camouflaging and social anxiety. Specifically, the objective was to determine whether the CBT program would reduce social anxiety symptoms and if this reduction would also be associated with improvements in camouflaging behaviours. Seventy-one autistic adults participated in an 8-week modified CBT group intervention for social anxiety. Camouflaging behaviors were assessed using the CAT-Q scale, and social anxiety levels were measured using three established and validated self-report measures. Pre- and post-intervention scores were analyzed to determine change following treatment, and correlations between social anxiety and camouflaging measures were explored. As expected, the CBT intervention program significantly reduced social anxiety symptoms across all measures, showing moderate effect sizes from pre- to post-treatment. However, no significant changes in camouflaging behaviors were observed from pre- to post-treatment. Despite this, reductions in social anxiety symptoms were correlated with decreases in camouflaging behaviours, particularly for the compensation and assimilation subscales. Autistic participants who showed the most benefit from therapy on social anxiety measures also showed the greatest reduction in their camouflaging scores from pre- to post-treatment. These findings suggest that improvements in social anxiety symptoms from CBT are also associated with reductions in camouflaging. Importantly, CBT did not lead to an increase in camouflaging behaviors in autistic adults. This study supports the overall benefits of CBT for autistic adults and suggests a need for more randomized controlled studies.
Lien vers le texte intégral (Open Access ou abonnement)
20. Victoria-Montesinos D, García-Muñoz AM, Mercader-Ros MT, Lucas-Abellán C, González-Monjarás M, Barcina-Pérez P. The role of microbial-derived p-Cresol in autism spectrum disorder: A systematic review of the gut-brain axis. Clin Nutr ESPEN. 2025; 69: 535-44.
BACKGROUND & AIMS: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition increasingly associated with gut microbiota alterations. Among microbial metabolites, p-Cresol has emerged as a potential contributor to the pathophysiology of ASD. This systematic review aims to examine the evidence linking p-Cresol and its metabolites with ASD and explore their potential role within the gut-brain axis framework, a bidirectional communication system where gut microbiota influence brain function via immune, metabolic, and neural pathways (e.g., vagus nerve, microbial metabolites). METHODS: A comprehensive literature search was conducted in PubMed, Web of Science, Scopus, and Cochrane up to March 2025, following PRISMA 2020 guidelines. Studies were included if they quantified p-Cresol or its derivatives in biological samples from individuals with ASD. Data extraction and risk of bias assessment were performed independently by two reviewers. The protocol was prospectively registered in PROSPERO (CRD420251007080). RESULTS: Seventeen studies met the inclusion criteria. Most reported elevated urinary or fecal p-Cresol levels in individuals with ASD compared to controls, with consistent associations found between p-Cresol concentrations and (1); gastrointestinal symptoms, particularly constipation and diarrhea; (2) specific microbiota alterations including increased Clostridium difficile and Desulfovibrio abundance; and (3) behavioral manifestations and ASD severity. However, heterogeneity in study designs, small sample sizes, and variability in analytical techniques limit the generalizability of the results. CONCLUSION: p-Cresol and its microbial precursors may contribute to ASD pathophysiology through gut-brain axis interactions. Although current evidence supports this association, further longitudinal and mechanistic studies are needed to confirm causality and evaluate p-Cresol as a biomarker or therapeutic target in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
21. Xu Z, Zhang Z, Bao H, Wang J, Gu T, Su B, Wang Y, Qin P. The Chinese Shorten Version of the Autism-Spectrum Quotient (AQ-CSV): Simplification and evaluation of psychometric properties. Asian J Psychiatr. 2025; 111: 104647.
Lien vers le texte intégral (Open Access ou abonnement)
22. Yon-Hernández JA, Gonzales C, Bothra S, Kecskemeti K, Iosif AM, Takarae Y, Ruder S, McGurk SR, Mueser KT, Solomon M. Early Employment Outcomes in Autistic and Non-autistic Youth: Challenges and Opportunities. J Autism Dev Disord. 2025.
Autistic youth often encounter significant barriers in securing employment, including difficulties with job acquisition, limited workplace support, and reduced access to structured employment services. This study examined early employment experiences in cognitively able autistic and non-autistic youth, with a focus on job characteristics and the associated factors of employment status. Participants included 99 individuals (51 autistic, 48 non-autistic) aged 18-23. Open-ended responses were coded to characterize first job experiences, including job setting, duration, hours worked, support received, sector, and job acquisition method. Group differences were assessed using chi-square tests. Logistic regression was used to examine the predictors of employment outcomes, including IQ, executive functioning, adaptive functioning, and education level. Results revealed notable differences between groups, with 67% of autistic participants having had a first work experience compared to 86% of non-autistic participants. When unpaid experiences (such as WorkAbility/internships) were excluded, this gap widened to 50% versus 78%. Autistic participants were significantly less likely to obtain jobs through competitive hiring and were more likely to work in sales/retail-related roles, whereas non-autistic participants exhibited greater job diversity and career-oriented positions. Personal connections were critical to job acquisition for autistic individuals, although structured employment programs were also a key pathway. Executive functioning difficulties were significantly associated with lower employment likelihood. Early employment disparities persist among autistic youth, particularly in access to competitive and career-track jobs. Interventions that support executive functioning, expand structured employment options, and leverage family and social networks may enhance employment success during the transition to adulthood.
Lien vers le texte intégral (Open Access ou abonnement)
23. Yusuf M, Genovese AC. Letter: Evolving Clinical Evidence: Electroencephalography Abnormalities in Autism Spectrum Disorder and the Emerging Role of Neuroelectric Biomarkers in Psychiatry. J Child Adolesc Psychopharmacol. 2025.
Lien vers le texte intégral (Open Access ou abonnement)
24. Zhang QM, Chen YF, Xing YY, Yang M, Li N, Jiang X, Gao H, Lu SY, Yao J. Anterior insular cortex regulates depression-like and ASD-like behaviors via the differential contribution of two subsets of microglia. Mol Psychiatry. 2025.
The anterior insular cortex (aIC) is involved in multiple neuropsychiatric disorders. Here, using the Cntnap2-deficient autism spectrum disorder (ASD) mouse model and the chronic social defect stress (CSDS)-induced depression mouse model, we show that two subpopulations of microglia in the mouse aIC played differential roles in ASD-like and depression-like behavioral phenotypes differentially. The Cx3cr1(+) microglia had morphological deficits in the Cntnap2-deficient mice and were involved in social deficits and restricted repetitive behaviors, while the Tmem119(+) microglia had morphological deficits in the CSDS-induced mice and contributed to impairments in sucrose preference and forced swim performance. Further, we showed that the two subsets of microglia had differential features in morphology, transcriptional profiles, electrophysiological properties, and impacts on synaptic functions. Using proteomic and metabonomic analyses, we identified two secretory factors, Fbl and Hp1bp3, that were crucial for the dysfunctions of the Cx3cr1(+) and Tmem119(+) microglia, respectively. Finally, we verified that Fbl and Hp1bp3 played essential roles in the behavioral deficits of the Cntnap2-deficient and the CSDS-induced mice, respectively. Our study can help understand the contribution of microglia and the aIC to neuropsychiatric-like behaviors.
Lien vers le texte intégral (Open Access ou abonnement)
25. Zhang S, Ren D, Wu J. Contributions of Executive Functions To Listening Comprehension and Mediation Effects of Verbal IQ among Chinese Children with Autism Spectrum Disorder. J Autism Dev Disord. 2025.
Listening comprehension is crucial for academic achievement and social communication, but is substantially impaired among children with autism spectrum disorder (ASD). To develop effective interventions for improving listening comprehension, it is essential to identify the underlying deficits in core cognitive domains and determine the precise mediation pathways. This study examined the associations between executive functions (EFs), such as working memory, inhibitory control, and cognitive flexibility, and listening comprehension abilities among Chinese children with ASD (N = 35) and age-matched typically developing (TD) children (N = 40). The ASD group performed statistically lower on tests of inhibitory control, cognitive flexibility, listening memory, and verbal IQ than their TD peers. The influences of EFs on listening memory differed between ASD and TD groups due to mediation by verbal IQ. In ASD children, working memory and cognitive flexibility both had direct effects on listening memory but no significant indirect effects via verbal IQ, while among TD children, working memory and cognitive flexibility had no significant direct effects on listening memory but rather influenced listening memory indirectly via verbal IQ. Alternatively, inhibitory control had direct and indirect effects on listening memory in both groups. Verbal IQ and cognitive flexibility significantly predicted listening comprehension ability in children with ASD. Effective strategies to improve listening comprehension among children with ASD must involve EF training and account for differences in reliance on verbal IQ.
Lien vers le texte intégral (Open Access ou abonnement)
26. Zhao G, Tian X, Peng K, Guo L, Chen Y, Cao Y, Wu H, Zhang M. Targeting S1PR1 with W146 Ameliorates autism-associated cognitive deficits by restoring neurovascular integrity via ERK/Caspase-3 pathway modulation. Pharmacol Biochem Behav. 2025; 255: 174078.
OBJECTIVE: We investigated the role of sphingosine-1-phosphate receptor 1 (S1PR1) in blood-brain barrier (BBB) function and associated behavioral abnormalities using the BTBR T + tf/J (BTBR) mouse model of autism. METHODS: Male C57BL/6 J (C57) and BTBR mice (4-week-old, n = 16/group) were assigned to three groups: C57 + Veh, BTBR+Veh, and BTBR+W146. The BTBR+W146 group received daily intraperitoneal injections of W146 (1 mg/kg) for 21 days, while control groups received equivalent volumes of vehicle (DMSO+0.9 % saline). Learning and memory were assessed using the Morris water maze. S1PR1 expression was determined via RT-PCR and Western blot analysis. Hippocampal neuronal morphology was examined by Nissl staining, while microvascular endothelial markers (CD31) and apoptotic pathway proteins (p-ERK, Caspase-3) were assessed by immunohistochemistry and Western blot. RESULTS: BTBR mice showed significantly higher hippocampal S1P and S1PR1 than C57 controls (P < 0.01). W146 treatment reduced escape latency and increased platform crossings in the Morris water maze (P < 0.05). Treatment with W146 also increased phospho-Ca(2+)/calmodulin-dependent protein kinase II (p-CaMKII), and phospho-cAMP-response element binding protein (p-CREB) expression in the hippocampus. Histologically, W146 restored neuronal density in the hippocampal CA1 region and preserved microvascular integrity, as shown by increased CD31 expression (P < 0.05). The observed neuroprotective effect was linked to significant decreases in the expression of phosphorylated ERK (P < 0.05) and Caspase-3 (P < 0.05). CONCLUSION: Elevated S1P/S1PR1 signaling in BTBR mice is associated with hippocampal neurovascular dysfunction. Treatment with the S1PR1 antagonist W146 improves learning and memory deficits, coinciding with reduced ERK/Caspase-3-mediated apoptotic signaling and preserved CA1 neuronal integrity. These findings highlight S1PR1 as a potential therapeutic target for autism-related cognitive impairments.
Lien vers le texte intégral (Open Access ou abonnement)
27. Zhao S, Chen X, Sun Q, Zhu H, Yang S, Song X, Chen J, Zhang C, Wu L. Dihydroquercetin Nanomicelles Mitigate Hippocampal Apoptosis and Alleviate Autism-Like Behaviors in ASD Rats via the IKK/IKB/NF-κB Signaling Pathway. Mol Pharm. 2025.
Dihydroquercetin (DHQ), a compound with neuroprotective effects, has shown its potential in a variety of nervous system diseases. However, its mechanism of action in autism spectrum disorder (ASD) remains to be further explored. Due to its poor solubility, the clinical application of DHQ is restricted. In this study, we aimed to improve the solubility of DHQ by constructing a novel nanodrug delivery system. We utilized the amphiphilic block copolymer MANNOSE-PEG2000-DSPE to encapsulate DHQ, and the resulting formulation was abbreviated as MAN@DHQ. The ASD rats were treated with MAN@DHQ for 7 days. The results of in vivo experiments confirmed that MAN@DHQ could effectively alleviate autism-like behaviors of ASD rats. Western blot results demonstrated that MAN@DHQ mitigate hippocampal apoptosis and ameliorated neuronal damage in the hippocampus of ASD rats via the IKK/IKB/NF-κB signaling pathway. The therapeutic potential of MAN@DHQ in ASD treatment represents a paradigm-shifting advancement in autism pharmacotherapy and offers promise for clinical interventions for ASD patients.
Lien vers le texte intégral (Open Access ou abonnement)
28. Zheng Q, Zhao Y, Cheng Q, Wang H, Liu F, Lai J, Liu Y, Zhang X, Kang Y, Li Z, Cao B, Wei C, Qian Z, Fan J, Ren W, Tian Y. Potentiation of nigra-striatal dopaminergic projection underpins core autism-like behaviors in valproate-exposed mice. J Neurosci. 2025.
Autism is characterized by two key diagnostic criteria including social deficits and repetitive behaviors. However, the underlying neural circuit dysfunction that accounts for these coexisting symptoms in autism remains poorly understood. Here we revealed that prenatal valproate exposure induced functional alterations of dopaminergic projections from substantia nigra pars compacta (SNc) to dorsomedial striatum (DMS). Specifically, we observed enhanced excitatory input and increased excitability in SNc-DMS dopamine (DA) neurons, resulting in a basal state of potentiation. This potentiated baseline activity blunted the phasic responses of SNc-DMS projections, as evidenced by reduction of transient Ca(2+) and DA signaling during social interaction and expression of repetitive behaviors in valproate-exposed male mice. We then utilized chronic chemogenetic and optogenetic approaches to selectively manipulate the abnormal basal activity of SNc-DMS dopaminergic signaling. This targeted intervention successfully rectified the dysfunction in D1R expressed medium spiny neurons (D1-MSNs) associated with social deficits, while simultaneously restoring the functionality of D2-MSNs linked to repetitive behaviors. Collectively, our findings support the hypothesis that prenatal valproate exposure disrupts SNc-DMS dopaminergic signaling, which mediates the coexistence of two core autism-like behaviors by reshaping the dynamics of direct and indirect pathway MSNs. Moreover, these results highlight potential therapeutic targets for developing interventions for both core symptoms of autism.Significance statement Autism is characterized by two key diagnostic criteria including social deficits and repetitive behaviors. Although the two core symptoms are apparently different and seemingly unrelated, they are actually associated each other, social behaviors need to be processed by a series of actions. Repetitive behaviors, especially the high-order restrictive interests, have their scopes to cognitive and emotional domains. This study, for the first time, revealed that prenatal valproate exposure disrupts nigrostriatal dopaminergic signaling, which mediated the coexistence of two core autism-like behaviors by reshaping the dynamics of direct and indirect pathway MSNs. These results offer insights regarding dopaminergic signaling as a hub underpinning the two coexisting behavioral abnormalities, and highlighting potential therapeutic targets for autism.