Pubmed (TSA) du 08/01/26
1. Non-epileptic paroxysmal events in Rett syndrome: A systematic review of case-based and observational evidence. Dev Med Child Neurol;2026 (Jan 8)
Lien vers le texte intégral (Open Access ou abonnement)
2. Adams D, Ambrose K, Bowen R, Heyworth M, Heussler H, Roth J, Pellicano E, Downes M, Houting JD, Paynter J, Simpson K, Trembath D, Westerveld M, Carroll A, Johnston A. Protocol for a feasibility and acceptability trial of Bloom, a co-produced and co-facilitated parent group to enhance the quality of life and well-being of young autistic children. Pilot Feasibility Stud;2026 (Jan 8)
BACKGROUND: The autistic and autism communities have identified improving the quality of life and well-being of autistic people as a key priority. Despite this, to date, there are no evidence-based supports for autistic children which specifically focus on improvements in these areas. This project seeks to address this gap by evaluating the acceptability and feasibility of Bloom, an 8-week co-produced and co-facilitated parent group that aims to enhance the quality of life and well-being of young autistic children. METHODS: This is a feasibility and acceptability study of a parent group, Bloom, which has been co-designed and co-produced between researchers and representatives from community organisations. The study aims to recruit 80 parents of autistic children aged 3-8 years through community organisations and social media networks. Once informed consent is provided, participants will be asked to complete baseline assessments (questionnaires and semi-structured interviews). These include measures of demographic as well as child, family, and parent well-being. Participants will be invited to attend the Bloom group for eight consecutive weeks during school term times. Groups will either be online or face to face, depending on parent preference and availability. Each group will be co-facilitated between an autistic person and an allied health professional. The assessments conducted at baseline (T1) will be repeated after completion of the group (T2) and at follow-up, 3 months after group completion (T3). At T2 and T3, participants will also be asked about their experiences of both the group and of their participation in the study. DISCUSSION: This feasibility and acceptability trial will provide essential data that, if positive, will inform the design of a fully powered randomised controlled trial (RCT). This includes the acceptability and feasibility of recruitment, study processes, the Bloom parent group, and baseline/outcome measures, including adherence to processes and the group. Additional data will be collected on retention from baseline to follow-up; effect sizes will be calculated for each outcome measure, both of which will inform the sample size of a future RCT. Findings of this study will be disseminated through written and/or audiovisual lay summaries to all participants and partner community organisations, as well as through peer-reviewed manuscripts and conference presentations. CONCLUSIONS: This study is one small, but important, step towards autism-specific, relevant, and accessible supports that combine professional and lived experience to improve outcomes for autistic people and their families. TRIAL REGISTRATION: Ethical clearance was provided by Griffith University Human Research Ethics Committee (HREC 2023/934). The Universal Trial Number is U1111-1305-0305, and the study has been registered with the Australian New Zealand Clinical Trials Registry (ANZCTR) number ACTRN12624000350527.
Lien vers le texte intégral (Open Access ou abonnement)
3. American College Of Medical T. ACMT Position Statement: ACMT Responds to the Acetaminophen and Autism Controversy. J Med Toxicol;2026 (Jan 7)
Lien vers le texte intégral (Open Access ou abonnement)
4. Benecke RM, Williams ZJ, Holmes LG, Miller JS, Kaplan-Kahn EA. Measurement Invariance of the PROMIS Family Relationships Scale Among Autistic and General Population Adolescents. Autism Res;2026 (Jan 8)
Social relationships are a key component of quality of life, a high-priority outcome for autistic people, and family relationships are critical in adolescence. The PROMIS Family Relationships scale has been well validated for use with the general population, but psychometric validation in the autistic population is lacking. This study investigated measurement invariance of the PROMIS Family Relationships among autistic and general population adolescents. The scale demonstrated scalar invariance between the groups, providing evidence that it measures the same construct equivalently and scores can be meaningfully compared between groups. With a well-validated self-report measure, researchers can ask autistic teens directly about their experiences of their family relationships, rather than relying solely on parent proxy report. Autistic people and their families value research about quality of life, including family relationships. When researchers use tools that were originally developed for the general population, rather than those designed specifically for autistic people, they must first make sure that the tool measures the same thing in the same way for autistic people. This study tested whether a tool that works well for the general population, the PROMIS Family Relationships scale, also works well for autistic teens. We found that the scale did measure the same thing in the same way for autistic teens, meaning that researchers can confidently do research using this scale with autistic teenagers and compare answers from both groups. This is important because most research on autism and family relationships asks questions of parents, but this scale can be used directly with autistic teens themselves to ask about their experiences. eng
Lien vers le texte intégral (Open Access ou abonnement)
5. D’Souza D, D’Souza H, Mayor J, Tovar Á E. Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome. Dev Sci;2026 (Mar);29(2):e70115.
The comprehension-production vocabulary gap is a well-documented hallmark of language development; however, anecdotal evidence suggests that this asymmetry may be reduced in children with Williams syndrome (WS). Here, we use empirical data to characterise the comprehension-production gap and computational modelling to investigate potential mechanisms underlying this distinctive linguistic profile, focusing on children aged 7 months to 6 years. Using parental reports (Communicative Development Inventories), we measured the receptive and expressive vocabularies of children with WS (n = 67) and compared them to typically developing children (n = 1210) and cross-syndrome groups with Down syndrome (n = 27), and fragile X syndrome (n = 15). Results confirm that children with WS show a unique trajectory: alongside general delay, they exhibit a significantly reduced comprehension-production asymmetry not observed in other groups. To elucidate the potential origins of this phenomenon, we implemented a biologically inspired neural network-self-organising map (SOM)-to model early word learning and evaluate visual and auditory map representations. Our findings reveal that WS-like vocabulary patterns can emerge from selective difficulties in visual processing, leading to exemplar-based rather than prototype-based object representations. The model suggests that these visual processing challenges, consistent with known visuospatial difficulties in WS, may contribute to the atypical comprehension-production relationship, while broader processing constraints may underlie general delays. This study provides a mechanistic account of vocabulary development in WS, highlighting the role of visual constraints in shaping lexical outcomes. More broadly, it underscores the need to conceptualise language development as an interaction between sensory input and cognitive subsystems, explaining why the comprehension-production gap is not a uniform feature of language acquisition.
Lien vers le texte intégral (Open Access ou abonnement)
6. Dana B, Elkana K, Ariela H, Matitiahu B, Ilia B, Eli H, Inbar H, Mirit L, Danel W, David M, Liron S, Orit S. CBD-Rich Cannabis Therapy in Children with Autism Spectrum Disorder May Improve Symptoms of Hyperactivity and Attention Deficit: An Open-Label Study. Curr Neuropharmacol;2026 (Jan 5)
INTRODUCTION: Medical cannabis has gained growing attention as a potential treatment for children with Autism Spectrum Disorder (ASD), particularly in cases where conventional pharmacological approaches have proven ineffective. Emerging evidence suggests that cannabinoid-based therapies may alleviate Attention Deficit Hyperactivity Disorder (ADHD) related symptoms in children with ASD. The objective of this study is to evaluate changes in ADHD symptoms over six months of treatment with a CBD-rich cannabis oil, using the Conners’ Teacher Rating Scale as the assessment tool. METHODS: This was a prospective, single-arm, open-label study conducted at a single center. A total of 109 children and young adults diagnosed with ASD and ADHD symptoms were recruited between November 2019 and April 2021. Of these, 53 participants were assessed by their schoolteachers using the Conners’ Teacher Rating Scale (CTRS) questionnaire, both before and after a three- to sixmonth treatment period with a CBD-rich, cannabis oil-based product. Blood samples were collected before and after treatment to measure cannabinoid levels, including CBD, 6-OH-CBD, 7-COOHCBD, and 7-OH-CBD. RESULTS: Significant improvements were observed in the following categories: anxious-shyness, perfectionism, ADHD index, emotional lability, and hyperactivity-impulsivity (p < 0.001). Additional trends toward improvement were identified in oppositional behavior (p = 0.009), cognitive inattention (p = 0.009), hyperactivity (p = 0.006), the Conners' Global Index (p = 0.007), and DSM-IV inattention scores (p = 0.003). No significant correlations were found between cannabinoid dosage or blood levels and changes in CTRS scores, except for emotional lability, where higher CBD concentrations were predictive of greater symptom improvement. DISCUSSION: This is the first prospective study to evaluate the effects of CBD-rich cannabis on ADHD symptoms in children with ASD using standardized teacher-based Assessments (CTRS). The findings indicate improvements in core behavioral domains. While previous studies have focused primarily on parent-reported outcomes or small-scale trials, our results support emerging evidence on the role of cannabinoids in modulating attention and emotional regulation. The main limitations of the study were its open-label design. CONCLUSION: CBD-rich cannabis oil may reduce ADHD symptoms in children with ASD. These findings support the need for future clinical trials to validate efficacy and determine optimal dosing.
Lien vers le texte intégral (Open Access ou abonnement)
7. Downs J, Wong K, Doshi D, Leonard H. Longitudinal Rett syndrome behaviour questionnaire scores and their associations with genotype and trajectories of mobility, weight and seizure frequency status. J Neurodev Disord;2026 (Jan 7)
Lien vers le texte intégral (Open Access ou abonnement)
8. Du Y, Miller VK, Mellies AJ, Broadie K. Elevated serotonin receptor 2A signaling restores learning and memory in a Fragile X syndrome model. Sci Rep;2026 (Jan 7)
Serotonin (5-hydroxytryptamine, 5-HT) has central roles enabling learning and memory, particularly via serotonin receptor 2A (5-HT(2A)R) signaling. Drosophila Fragile X syndrome model (dfmr1 null mutant) studies reveal impaired learning and memory, which may reflect serotonergic signaling deficits. Here, we use classical olfactory T-maze conditioning to assess behavior, combined with imaging to assess 5-HT and 5-HT(2A)R levels within the underlying Mushroom Body (MB) brain circuitry. Null dfmr1 mutants exhibit learning and memory deficits that are corrected by elevating 5-HT signaling via 1) overexpression of the serotonin biosynthetic enzyme tryptophan hydroxylase (Trhn) or 2) knockdown of the serotonin reuptake transporter (SERT). Direct comparisons reveal both Trhn and SERT manipulations equally restore learning and memory in dfmr1 null mutants. 5-HT(2A)R levels in the MB circuit are reduced relative to controls in dfmr1 mutants, and 5-HT(2A)R RNAi phenocopies dfmr1 null behavioral deficits, suggesting these phenotypes are primarily caused by the loss of 5-HT(2A)R signaling. Consistently, 5-HT(2A)R overexpression in dfmr1 nulls restores normal learning and memory compared to controls. These findings suggest loss of 5-HT(2A)R signaling causes learning and memory deficits in this Fragile X syndrome model, and that rectifying this signaling impairment can restore learning and memory, providing a framework for serotonergic intervention strategies.
Lien vers le texte intégral (Open Access ou abonnement)
9. Eldevik S, Strømgren B, Eikeseth S, Fields A, Goetz CM, Titlestad KB. Clinically Significant Outcomes of Early Intensive Behavioral Intervention for Children With Autism Spectrum Disorders: An Individual Participant Data Meta-Analysis. Autism Res;2026 (Jan 8)
Early Intensive Behavioral Intervention (EIBI) is widely recommended for children with Autism Spectrum Disorder (ASD). However, the treatment intensity and effectiveness have been debated. We conducted a meta-analysis and examined individual participant data to evaluate the effectiveness and clinical significance of the outcomes on adaptive behavior, intellectual functioning, and autism severity. We included studies of children with ASD aged 2-6 years who received EIBI for at least 12 months. The final literature search was conducted on September 26, 2024. The GRADE tool was used to assess the risk of bias. Across the 17 identified studies, we obtained participant data from 15 studies: 341 children received EIBI and 280 were in comparison-groups. All studies had a serious risk of bias due to the lack of random assignment. Our meta-analysis yielded effect sizes of 0.66 for improvement in adaptive behavior, 0.87 for improvement in intellectual functioning and 1.36 for reductions in ASD severity. A significantly higher percentage of children in the EIBI-group met the criteria for statistically reliable change and scored in the non-clinical range post-intervention with a Number Needed to Treat between 4.1 and 6.9. We found that treatment intensity significantly contributed to changes across all outcome measures. Based on our analyses we propose benchmarks for evaluating interventions for children with ASD. Although EIBI demonstrates broad, substantial effects, some uncertainty remains due to the lack of random assignment in the reviewed studies. Nonetheless, EIBI should currently be considered as the preferred treatment for children with ASD. This meta‐analytic review shows that Early Intensive Behavioral Intervention (EIBI) can have a clinically meaningful impact on adaptive behavior and intellectual functioning in children with ASD, as measured by standardized tests. Furthermore, EIBI may reduce autism severity. At the group level, the strongest predictor of outcome was the number of weekly treatment hours. However, none of the included studies employed random assignment of participants to groups, introducing some uncertainty regarding the results. eng
Lien vers le texte intégral (Open Access ou abonnement)
10. Fish LA, Gliga T, Gui A, Ali JB, Mason L, Johnson MH, Charman T, Falck-Ytter T, Jones EJH, Kandaswamy R, Happé F, Wong CCY. Epigenome-wide analysis identifies DNA methylation signatures associated with the infant pupillary light reflex, a candidate intermediate phenotype for autism. Sci Rep;2026 (Jan 8);16(1):325.
The pupillary light reflex (PLR), the automatic constriction of the pupil in response to increased luminance, is a candidate early intermediate phenotype associated with autism, with potential to help understand early neurodevelopmental differences because it is controlled by relatively simple neural circuitry. We conducted epigenome-wide association analyses of PLR onset latency and constriction amplitude at 9, 14, and 24 months, with 51 male infants enriched for familial autism likelihood (~ 80% with a first-degree autistic relative), using buccal DNA collected at 9 months. We identified four epigenome-wide differentially methylated probes (p < 2.4 × 10⁻⁷) significantly associated with PLR latency at 14 and 24 months, and 14- to 24-month developmental change in latency. Probes linked to PLR amplitude were identified at a discovery threshold (p < 5 × 10⁻⁵). Regional analyses revealed multiple differentially methylated regions associated with both latency and amplitude. Associated probes were enriched for neurodevelopmental processes and autism-associated genes, including NR4A2, HNRNPU, and NAV2. While the findings are most directly relevant to male infants in whom PLR variability may be associated with familial autism likelihood, they provide novel evidence that DNAm contributes to early variation in PLR. These insights into the biological underpinnings of this reflex support PLR as an early intermediate phenotype associated with autism.
Lien vers le texte intégral (Open Access ou abonnement)
11. Franklin MS, Dolor RJ, Hendren S, Jelliffe-Pawlowski L, Wiley S, Myers SM, Quiñones A, Nowell K, Kanne SM, Kramer JM, Thompson B, Thomas E, Bello J, Pham HMH, Maslow GR. A Roadmap for Accelerating Research in Intellectual and Developmental Disabilities Using PCORnet®. Med Care;2026 (Feb 1);64(2S Suppl 3):S301-s313.
OBJECTIVE: This project sought to (1) identify critical gaps in knowledge of intellectual/developmental disabilities (IDD) clinical care and accelerate research by identifying a set of high-priority patient-centered comparative clinical effectiveness research (CER) questions that may be answered using PCORnet and (2) provide recommendations to advance CER for people with IDD (PwIDD). BACKGROUND: National-scale research is needed to better identify PwIDD, determine appropriate interventions, and evaluate care quality throughout individuals’ life course to improve health outcomes and address health inequities. METHODS: PCORnet® Network Partners convened Workgroup members who: (1) provided input on research gaps based on their research, clinical work, and/or lived experiences, (2) conducted a literature scan, (3) examined the current capabilities through a data query of PCORnet data resources, (4) surveyed PCORnet® partner sites to describe current infrastructure, (5) identified gaps in knowledge, (6) prioritized unanswered patient-centered CER questions, and (7) characterized infrastructure needs to address CER questions. RESULTS: Sites participating in PCORnet® collectively serve many individuals across the range of IDD conditions, including more than 300,000 individuals with diagnosed autism. There is high utilization of the emergency department (19%-35%) and inpatient setting (8%-31%) across IDD conditions. We identified 3 broad evidence gaps and generated CER questions to address them. CONCLUSIONS: Our findings provide insight into the current gaps in knowledge of IDD clinical care, the use of the PCORnet infrastructure to improve cohort ascertainment for IDD CER, and opportunities to enhance the PCORnet® Common Data Model (CDM) to standardize additional patient-centered and IDD-focused data elements for future CER.
Lien vers le texte intégral (Open Access ou abonnement)
12. Gu C, Zeng Y, Wei W, Yang C, Sun J, Miao W, Zhang L. A Chinese contextual study of factors influencing the acceptance of students with autism by mainstream school teachers and non-autistic peers. BMC Psychiatry;2026 (Jan 7)
Lien vers le texte intégral (Open Access ou abonnement)
13. Han S, Sun X, Sloofman L, Satterstrom FK, Xu X, Liang L, Knoblauch N, Sheng W, Zhao S, Nguyen TH, Wang G, Buxbaum J, He X. MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations. Am J Hum Genet;2026 (Jan 8);113(1):168-183.
Rare-variant analysis is commonly used in whole-exome or genome sequencing studies. Compared to common variants, rare variants tend to have larger effect sizes and often directly point out causal genes. These potential benefits make association analysis with rare variants a priority for human genetics researchers. To improve the power of such studies, numerous methods have been developed to aggregate information of all variants of a gene. However, these gene-based methods often make unrealistic assumptions, e.g., the commonly used burden test effectively assumes that all variants chosen in the analysis have the same effects. In practice, current methods are often underpowered. We propose a Bayesian method: mixture-model-based rare-variant analysis on genes (MIRAGE). MIRAGE analyzes summary statistics (i.e., variant counts from inherited variants in trio sequencing or from ancestry-matched case-control studies). MIRAGE captures the heterogeneity of variant effects by treating all variants of a gene as a mixture of risk and non-risk variants and uses external information of variants to model the prior probabilities of being risk variants. We demonstrate, in both simulations and analysis of an exome-sequencing dataset of autism, that MIRAGE significantly outperforms current methods for rare-variant analysis. The top genes identified by MIRAGE are highly enriched with known or plausible autism-risk genes.
Lien vers le texte intégral (Open Access ou abonnement)
14. Jankowska K, Świderski N, Wójtowicz W, Iwan M, Bielecka-Wajdman A. [Hyperbaric oxygen therapy (HBOT) in the treatment of autism spectrum disorders]. Postepy Biochem;2025 (Nov 13);71(4):313-322.
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders whose etiology involves complex interactions of environmental, genetic, and neurobiological factors. The developing knowledge regarding the genesis of this disorder, along with the increasing number of diagnosed cases, creates a need to search for more effective treatment methods. One potential complementary therapy is hyperbaric oxygen therapy (HBOT). Its potential mechanism of action in ASD is primarily associated with its anti-inflammatory effects, modulation of neuroplasticity, and a potential impact on oxidative stress levels. Current research shows that HBOT may improve certain behavioral and cognitive factors in individuals with ASD, such as speech, communication, and psychosocial functioning. However, these results are often inconsistent due to potential adverse effects of HBOT, such as barotrauma and oxygen toxicity. This article highlights the significance of HBOT in ASD based on available literature from experimental studies conducted between 2012 and 2025.
Lien vers le texte intégral (Open Access ou abonnement)
15. Jin Y, Cao Y, Ma W, Li R, Li Y, Kang Y, Huang J, Epstein MP, Guo X, Lim J, Rivera N, Zhou Y, Wen Z, Allen EG, Jin P. Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome. Nat Commun;2026 (Jan 8)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansions in the FMR1 gene. While CGG repeat toxicity is established, the precise molecular mechanisms driving neurodegeneration remain unclear. Here, we show that a multi-omics strategy combined with TWAS reveals brain-region-specific molecular signatures and striking gene dysregulation in inhibitory neurons. Using conditional mouse models, we demonstrate that selective expression of expanded CGG repeats in GABAergic neurons is sufficient to recapitulate key pathologic hallmarks of FXTAS. We identify PRKCG as a genetic modifier of FXTAS, with cross-species evidence linking its overexpression to disease onset. Many dysregulated mRNAs in GABAergic neurons are targets of hnRNPA2/B1, an RNA-binding protein sequestered by CGG repeat RNA. Functional screening in Drosophila further establishes PRKCG as a potent modulator of CGG-associated neurotoxicity. These findings uncover a critical role of GABAergic neurons in FXTAS pathogenesis and position PRKCG as a promising therapeutic target.
Lien vers le texte intégral (Open Access ou abonnement)
16. Kerr J, Nicholson H, Richards R, Anderson C. Parents’ experiences in accessing services for their autistic children in the United Kingdom: A meta-synthesis. Br J Clin Psychol;2026 (Jan 7)
BACKGROUND: Parents of autistic children support their children through additional challenges, often experiencing adversity as a result. Such parents report high support needs, yet service provision is often limited. Services often support children through providing various psychological interventions to parents. Quantitative evidence for such interventions is mixed and qualitative evidence is sparse. This review therefore aimed to synthesise the perspectives of UK parents regarding interventions for their autistic child. METHOD: The databases Scopus, Embase, Medline, PubMed, PsycInfo, CINAHL, Web of Science and ASSIA were searched in February 2025. Inclusion criteria constituted qualitative articles published in English from 2004 onwards exploring UK parents’ perspectives of interventions aimed at supporting autistic children. Articles were evaluated using Standard Quality Assessment Criteria. Thematic meta-synthesis was conducted. RESULTS: Fourteen papers were identified: eight high-quality, one medium-quality, and four low-quality. Interventions were psychoeducational behavioural, communication-based, sensory-related or mental-health based in nature. Themes included change, relationship with help, parents’ need to process and solidarity. CONCLUSIONS: Facilitators of positive change included learning, empowerment, structure and rigour, while barriers included delivery issues and unhelpful information. Parents reported finding solidarity amongst similar parents helpful. Reflective space was deemed useful in facilitating new understanding of autistic lives. Methodological quality varied, with more reflexive and theoretically grounded research encouraged. Future research should also consider implementing embedding processes into qualitative designs.
Lien vers le texte intégral (Open Access ou abonnement)
17. Li H, Li X, Wang X, Lin L, Cao M, Pan S, Ou X, Gu T, Shen S, Li H, Jing J. Multiomics analysis reveals the exacerbating effect of constipation on autism-related symptoms in children with autism spectrum disorder. NPJ Biofilms Microbiomes;2026 (Jan 8)
This study investigated the relationship between constipation and autism-related symptoms in children with autism spectrum disorder (ASD). Participants were assessed for gastrointestinal (GI) and autism-related symptoms and classified into constipated and non-constipated groups. The relationship was further explored via 16S rRNA sequencing and non-targeted metabolomics to identify underlying mechanisms. Results revealed that constipated ASD children exhibited more severe autism-related symptoms and alterations in four bacterial taxa-the phylum Bacteroidetes, the family Barnesiellaceae, and the genera Alistipes and Bilophila-plus 451 metabolites compared to non-constipated ASD children. Among the altered bacterial taxa, three-Bacteroidetes, Alistipes, and Bilophila-exacerbated the relationship between constipation and autism-related symptoms. Five metabolites derived from the above three taxa-chenodeoxycholic acid, palmitic acid, glutaric acid, arachidonic acid, and choline-were significantly associated with autism-related symptoms. Our multi-omics analysis reveals the exacerbating effect of constipation on autism-related symptoms in children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
18. Li J, Chen M, Chan RCF, Chan JLM, Liang X, Wang L. The effectiveness of TEACCH-based interventions in improving adaptive skills in children with autism spectrum disorders: a systematic review and meta-analysis. Transl Pediatr;2025 (Dec 31);14(12):3263-3280.
BACKGROUND: The Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH) intervention has been adopted globally for children with autism spectrum disorder (ASD). Although previous studies have investigated the effectiveness of TEACCH-based interventions for children with ASD, the impact of various experimental designs and participants’ characteristics remains unclear. To address this, a systematic review and meta-analysis were conducted to examine the effectiveness of TEACCH-based interventions in improving different skills, reducing ASD severity, and decreasing parental stress across different study designs and children’s characteristics. METHODS: A literature search of the PubMed, Embase, MEDLINE, APA PsycInfo, Scopus, and Web of Science databases was conducted. Studies were included if the following criteria were met: (I) a diagnosis of ASD based on professional diagnostic criteria or school report; (II) an age ≤18 years; (III) studies conducted with TEACCH-based interventions explicitly described as based on the TEACCH approach, with structured teaching and environment tailored to ASD children being emphasized; (IV) changes in outcomes reported with at least one well-developed measurement; and (V) a primary study type of randomized controlled trials (RCTs) or nonrandomized controlled studies (NRSs), with pretest-posttest studies only included in the systematic analyses and not in the final meta-analysis. Data were extracted and analyzed via meta-regression and subgroup analysis, and publication bias and quality were assessed. From 1,019 initially included studies, 20, comprising 920 children, were ultimately used in the meta-analysis. RESULTS: This analysis revealed significant improvements in communication skills (g=0.21), daily living skills (g=0.40), motor skills (g=0.19), and social skills (g=0.76) among children with ASD. Subgroup analyses highlighted the positive influence of school age (6-12 years) and parental involvement in strengthening TEACCH-based intervention outcomes. TEACCH interventions also significantly reduced ASD symptom severity (g=-0.91), improved cognitive functioning (g=0.30), and reduced parental stress (g=-0.4). CONCLUSIONS: This study demonstrates that TEACCH-based interventions can significantly enhance a range of developmental skills in children with ASD. By comparing intervention settings, durations, and levels of parental involvement, and identifying the specific conditions under which TEACCH yields the greatest benefits-namely, structured clinical environments, medium-term implementation periods, and intentional parent participation. These findings provide actionable evidence on how to optimize TEACCH-based programs in practice and emphasize the importance of context-specific adaptation and high-fidelity delivery when applying these interventions across diverse populations and service settings.
Lien vers le texte intégral (Open Access ou abonnement)
19. Li SN, Chien WT. Acceptance and Commitment Training for Parents of Children With Autism Spectrum Disorder: A Randomized Clinical Trial. JAMA Netw Open;2026 (Jan 2);9(1):e2552693.
IMPORTANCE: Parents of children with autism spectrum disorder (ASD) experience significant stress and caregiving burden and urgently require targeted psychological support and parenting guidance. Integrating acceptance and commitment therapy (ACT) into the World Health Organization’s caregiver skills training has demonstrated good feasibility, acceptability, and potential benefits in addressing these parents’ unmet psychological and informational needs; however, its effectiveness remains unexplored. OBJECTIVE: To evaluate the effectiveness of an evidence-based ACT-based parenting program on parental stress and that of other health outcomes on parents and their children with ASD immediately and 6 months after intervention. DESIGN, SETTING, AND PARTICIPANTS: This randomized clinical trial using the intention-to-treat principle was conducted across 7 government-designated rehabilitation institutions in Shenzhen, China, from February 18, 2024, to January 20, 2025. Participants were adult parents serving as the primary caregivers of their children with ASD (aged 3-9 years). INTERVENTIONS: Participants were randomly allocated in a 1:1 ratio to either an intervention group or a control group using block randomization. Participants in the intervention group received usual care plus an 8-week, group-format ACT-based parenting program, while the control group received usual care only. MAIN OUTCOMES AND MEASURES: Parental stress was the primary outcome, assessed by the Chinese version of the Parenting Stress Index-Short Form. Secondary outcomes included parental depressive symptoms, anxiety, psychological flexibility, and parenting competence and children’s emotional and behavioral problems. RESULTS: Among 154 parents (mean [SD] age, 36.55 [4.92] years; 135 [87.66%] mothers) caring for children with ASD (mean [SD] age, 5.69 [1.75] years; 118 [76.62%] boys), 77 participants were randomized to the ACT-based intervention group and 77 were randomized to the control group. Those in the intervention group reported significantly greater improvements in parental stress (group × time effect, β = -2.04 [95% CI, -3.51 to -0.57]; P = .007), psychological flexibility (β = 1.12 [95% CI, 0.29 to 1.95]; P = .008), and parenting competence (β = 2.45 [95% CI, 0.53 to 4.36]; P = .01) and children’s emotional and behavioral problems (β = -1.16 [95% CI, -2.26 to -0.05]; P = .04) during the 6-month follow-up. Significant effects on parental depressive symptoms (β = -1.61 [95% CI, -3.12 to -0.10]; P = .04) and anxiety (β = -1.62 [95% CI, -2.81 to -0.44]; P = .007) were observed in the ACT-based intervention group immediately post intervention. CONCLUSION AND RELEVANCE: In this randomized clinical trial of an ACT-based parenting program, the intervention was effective in helping parents manage their stress in caregiving and the emotions and behaviors of their children with ASD, underscoring the need for future studies among more diverse populations globally. TRIAL REGISTRATION: ChiCTR Identifier: 2400080472.
Lien vers le texte intégral (Open Access ou abonnement)
20. Matsumoto Y, Kawabe K, Horiuchi F, Jogamoto T, Hosokawa R, Nakachi K, Soga J, Inoue S, Kusunoki M, Eguchi M, Ueno SI. Factors associated with suicidal ideation in junior high school students with autism spectrum disorder in Japan: A cross-sectional observational study. PCN Rep;2026 (Mar);5(1):e70272.
AIM: Suicide is a leading cause of death among adolescents. Several studies have reported higher suicidal ideation (SI) rates in individuals with autism spectrum disorder (ASD) than in those without ASD; however, risk factors for SI remain unclear, especially among adolescents. This study aimed to investigate the factors contributing to SI among junior high school students with ASD in Japan. METHODS: We conducted a cross-sectional observational study of junior high school students who visited the Center for Child Health, Behavior, and Development, Ehime University Hospital. Medical records from April 2015 to March 2022 were examined. Participants completed the Strengths and Difficulties Questionnaire (SDQ) and General Health Questionnaire 30 (GHQ30), while their parents completed the Autism Screening Questionnaire, Attention Deficit Hyperactivity Disorder Rating Scale, and Social Responsiveness Scale. SI was assessed using item 28 of the GHQ30: « make away with yourself. » Multiple logistic regression analysis was performed with SI as the dependent variable. RESULTS: Participants were categorized into ASD (n = 84) and non-ASD (n = 166) groups. The prevalence of SI was similar in both groups (p = 0.478). In the ASD group, multiple logistic regression analysis revealed that the SDQ subscales « Peer Problems » and « Emotional Symptoms » were significantly associated with SI (odds ratio [OR]: 1.63, 95% confidence interval [CI]: 1.22-2.19, OR: 1.44, 95% CI: 1.14-1.83). CONCLUSION: Approximately 40% of junior high school psychiatric outpatients had SI, irrespective of autistic tendencies. Our study suggests the importance of enhancing peer connectedness among students with ASD who experience SI.
Lien vers le texte intégral (Open Access ou abonnement)
21. McCann LJ, Bakhti R, Fonseka N, Nicholls D, Hargreaves DS, Amati F, Lazzarino AI, Mitra R, Narayan K, Weston A, Gnani S. Narrative systematic review for autism spectrum disorders screening tools in school settings. BMJ Open;2026 (Jan 8);16(1):e105317.
OBJECTIVES: Early screening for autism spectrum disorder (ASD) can enhance educational and health outcomes for affected children. This narrative systematic review explores school-based screening tools used around the world to identify children with ASD and explore the differences across socio-demographic groups. DESIGN: Systematic review of electronic databases (EMBASE, MEDLINE, PsycINFO, Cochrane and Scopus) in October 2024 of papers published between 2011 and 2024. SETTING: Mainstream school-based settings globally. PARTICIPANTS: Children aged 4-16 years old attending mainstream school. INTERVENTIONS: School-based screening tools for ASD, including all types of informant and format of tools reported in eligible studies. PRIMARY AND SECONDARY OUTCOME MEASURES: Primary outcomes included prevalence of screen positives, sensitivity and specificity of the screening tools. Secondary outcomes included participants’ sex, socioeconomic status and ethnicity, and the relation of this to the primary outcomes. RESULTS: Of 7765 eligible articles, 14 studies were included in this review. We identified eight different school-based ASD screening tools. Study populations ranged from 103 to 16 556 children, with sensitivity and specificity varying by screening tool used, age group, setting and ASD prevalence. The percentage of children screening positive for ASD ranged from 0.7% to 8.5%. Studies were conducted in Europe (n=6), Western Pacific (n=4), the Americas (n=3) and Eastern Mediterranean (n=1) regions. No studies explicitly explored accuracy or validity outcomes based on ethnicity or socioeconomic status. Half of the 14 studies (n=7) reported the sensitivity and specificity of the screening tools; sensitivity ranged from 58% to 94% and specificity from 61% to 100%. There was insufficient evidence to recommend any single ASD screening tool. CONCLUSIONS: ASD screening tools vary widely across the globe, with limited standardisation. Evidence is lacking on how ethnicity and socioeconomic status affect their effectiveness in schools. Given the dearth of scientific evidence in this field, collaboration among educators, researchers and policymakers is needed to establish the evidence base for universal screening, identify optimal tools, coordinate their use and ensure their validation for specific populations.
Lien vers le texte intégral (Open Access ou abonnement)
22. McIntosh A, Hunter R. Exploring recovery from anorexia in autistic adults: a qualitative study. BMJ Open;2026 (Jan 6);16(1):e111034.
OBJECTIVES: To examine the barriers and facilitators of anorexia nervosa (AN) recovery in adults with autism. DESIGN: Qualitative study using semi-structured interviews with autistic adults who identified as being in recovery or having recovered from AN. SETTING: Participants were recruited via advertisements on social media and an eating disorder (ED) forum. Online Zoom interviews with 12 participants were conducted from October to November 2023. PARTICIPANTS: Overall, 12 autistic adults who identified as being in recovery or recovered from AN were included (11 women and 1 man; aged between 18-50 years). RESULTS: Four key themes were identified: ‘Sensory Experiences’, ‘Recovery in progress’, ‘Changing to healthy mindsets’ and ‘Engaging with treatment’. Results indicated that recovery for participants did not follow a linear path, with the role of autistic traits, such as sensory sensitivities, interoception and the internal voice, making recovery challenging. CONCLUSION: This study provides insight into the challenges and motivations experienced during the recovery process. Findings highlight the need for further research to improve guidelines and autism awareness in ED services.
Lien vers le texte intégral (Open Access ou abonnement)
23. Murthy H, Hoang N, Stark JC, Cui S, Pannia E, Tsoi CT, Harris S, Ceolin C, Verhaeghe L, Scholten S, Baribeau D, Summers J, Costain G, Selvanayagam T, Howe JL, Lewis MES, Brunet T, Rieger S, Rosenfeld JA, Craigen WJ, Burrage LC, Christie MR, Baldwin D, Wentzensen IM, Keren B, Cogne B, Isidor B, Afenjar A, Elshafie RM, Bastaki L, Alkanderi S, Myers KA, Demarest S, Angione K, Abbott M, Campeau PM, Dowling JJ, Mendoza-Londono R, Scherer SW, Deshwar AR, Vorstman J. Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia. Brain;2026 (Jan 8);149(1):252-261.
DENND2B is a DENN (differentially expressed in normal and neoplastic cells) domain-containing protein that has important roles in regulating the cell cycle, cell division and ciliogenesis, but to date has not been associated with any human disease. Here, we report on 11 individuals with monoallelic variants in DENND2B with a shared constellation of features and perform in silico and in vivo zebrafish modelling of the DENND2B variants identified in these patients. Features shared among these patients include developmental delay, intellectual disability and psychiatric/behavioural concerns, and episodes of psychosis and/or catatonia. Additional features common to our cohort include epilepsy, muscle weakness/hypotonia and a wide range of congenital anomalies across different organ systems. Identified patient variants affect well-conserved amino acids and are predicted to be deleterious to DENND2B function by in silico prediction algorithms and structural modelling. Nine of the 10 observed patient variants were modelled in zebrafish and confirmed to result in loss of DENND2B function. Altogether, these findings suggest that monoallelic loss-of-function variants in DENND2B cause a novel autosomal dominant neurodevelopmental disorder with variable vulnerability to psychosis and/or catatonia.
Lien vers le texte intégral (Open Access ou abonnement)
24. Noda S, Murakami T, Hashimoto K, Kamioka N, Ohno Y, Ikari Y. Folding atrial septal aneurysm to close multi-fenestrated ASDs and a PFO with a single device. Cardiovasc Interv Ther;2026 (Jan 8)
Lien vers le texte intégral (Open Access ou abonnement)
25. Norozi M, Sarmukadam K, Paterra V, Parks E, Hogan AL. Associations Between Communication Skills and Social Anxiety in Children and Adolescents With Autism Spectrum Disorder: A Systematic Review. J Speech Lang Hear Res;2026 (Jan 8);69(1):273-285.
PURPOSE: This systematic review examined the association between communication skills and social anxiety in autistic youth ≤ 18 years old. METHOD: A systematic search was conducted across six databases (PubMed/MEDLINE, Web of Science, Scopus, PsycINFO, Embase, and ProQuest) and gray literature to identify quantitative studies that investigated the relationship between communication skills and social anxiety in autistic youth. This systematic review was registered prospectively on PROSPERO (International Prospective Register of Systematic Reviews; Registration No. CRD42023415376). RESULTS: Six studies met the inclusion criteria, comprising a total of 682 autistic participants. Findings suggest a moderate relationship between social anxiety and communication skills, but this association varied depending on the measure used, the cognitive abilities of participants, and the specific communication domains examined. CONCLUSIONS: The association between communication skills and social anxiety in autistic youth is complicated and impacted by multiple factors, including measurement heterogeneity, cognitive abilities, and developmental stage. Future research should include larger sample sizes and adopt validated measures tailored for autistic individuals to enhance the consistency of findings and improve the understanding of the relationship between communication skills and social anxiety. Longitudinal studies are also needed to explore how relationships evolve across development. Understanding these associations has important implications for targeted interventions to support autistic individuals with co-occurring social anxiety. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.30716924.
Lien vers le texte intégral (Open Access ou abonnement)
26. Rashaid AHB, Al-Rabi YI, Nusair SD, Bashtawi MA. A pilot study of amino acid profiles in boys with autism spectrum disorder and their mothers. Nutr Neurosci;2026 (Jan 8):1-20.
Autism Spectrum Disorder (ASD) has been linked to metabolic disturbances in prior research. This pilot study explored plasma and urinary amino acid profiles in a cohort of Jordanian boys with ASD (n = 17) and their mothers, comparing them to neurotypical controls (n = 17). Amino acid concentrations were quantified using Amino Acid Analyzer system, which integrates: High-performance liquid chromatography (HPLC); cation exchange chromatography for separation; and post-column ninhydrin derivatization, l. Our analysis revealed preliminary correlations, including a significant association between urinary arginine levels in children with ASD and their mothers (r = 0.52, p = 0.031). Furthermore, distinct amino acid patterns were observed across ASD severity levels. When evaluating individual amino acids as biomarkers, several showed fair diagnostic accuracy (AUC 0.7-0.8) in internally cross-validated ROC analyses. The observed patterns suggest a complex interplay of genetic factors e.g. Potential inheritance of metabolic enzyme variants, environmental influences (e.g. Shared dietary habits or toxin exposures, and physiological adaptations). These findings suggest that amino acid dysregulation may be involved in ASD and warrant further investigation. However, the small sample size necessitates caution, and these results should be validated in larger, more diverse cohorts to assess their generalizability and potential clinical relevance.
Lien vers le texte intégral (Open Access ou abonnement)
27. Rasoli Jokar AH, Malek AN, Stevenson M, Yaruss JS. How Variability Is Addressed in Interventions for Neurodiverse Conditions: Implications for Stuttering. J Speech Lang Hear Res;2026 (Jan 8);69(1):123-165.
PURPOSE: This scoping review aimed to investigate strategies from peer-reviewed literature for addressing behavioral and experiential variability in neurodiverse conditions such as autism spectrum disorder, anxiety disorders, attention-deficit/hyperactivity disorder, mood disorders, and Tourette syndrome. Specifically, we explored how approaches used with other conditions could be adapted to better account for variability in the assessment and treatment of stuttering. METHOD: A comprehensive search of Google Scholar, PubMed, PsycINFO, Scopus, and Web of Science was conducted for studies published between 2000 and March 2025, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines. Fifty-five studies met inclusion criteria by describing methods for measuring or managing variability across situations, across tasks, or over time. A narrative synthesis was used to analyze and interpret findings. RESULTS: Key strategies for addressing variability in assessment included real-time data collection through ecological momentary assessment and contextual analysis using tailored rating scales. Key strategies for managing variability included personalized treatment, adaptive treatment models, cognitive therapy techniques, environmental modifications, and psychoeducation. These methods hold potential for improving the evaluation and management of variability within the population of individuals who stutter. CONCLUSIONS: Adapting strategies from other neurodiverse conditions to stuttering has the potential to offer benefits such as improved measurement of variability and more personalized interventions. This review emphasizes the value of cross-disciplinary approaches to enhance quality of life for those who stutter.
Lien vers le texte intégral (Open Access ou abonnement)
28. Rattaz C, Peries M, Pickles A, Baghdadli A. The Impact of Inclusive Education Practices on Students With ASD’S Outcomes: Report From the ELENA French Cohort Study. Autism Res;2026 (Jan 8)
Inclusive education is largely promoted in the field of autism spectrum disorders (ASD), but scientific and empiric studies about the impact of school inclusion on the children’s outcome are lacking. We studied the effect of the type of inclusion (regular classroom vs. special education classroom) in a sample of 356 children with ASD over a three-years period. Results first showed that, when comparing both groups at baseline, children in special education classes were older, had a higher level of challenging behaviors and came from lower socioeconomic status families. Once matched through propensity score, children in special classrooms had significantly lower communication and daily living skills than children in ordinary classrooms after 3 years, whereas there was no significant difference in socialization skills and in IQ. Overall, placement in a regular education classroom was positive for most children, however there is a high inter-individual variability and it is very unlikely that inclusive settings are by default superior for all children with special needs. These results, emphasizing the crucial role of the mainstream milieu, cannot be considered definitive and further studies are needed to address this critical educational policy issue. Trial Registration: ClinicalTrials.gov identifier: NCT02625116. While inclusive education is largely promoted, little is known about the impact of school inclusion on the children’s outcome. This study explored the outcome of children as a function of the type of inclusion (regular vs. special education classroom) over a 3‐year period. We found that children in ordinary classroom had higher communication and daily living skills after 3 years than children in special education classes. However, there were important differences from one child to another, and we cannot conclude that inclusive settings are by default superior for all children with special needs. An important issue is thus to have a panel of different inclusion modalities, and to choose the one that is the most appropriate for one child as a function of his profile. eng
Lien vers le texte intégral (Open Access ou abonnement)
29. Shah R, Hargreaves D. Autism, paracetamol and folic acid: the perils of health misinformation. Arch Dis Child;2026 (Jan 8)
Lien vers le texte intégral (Open Access ou abonnement)
30. Tingler AM, Figuereo YF, Engevik KA, Weis VG, Krigsman A, Engevik MA, Walker SJ. Children with Autism Spectrum Disorder and Chronic Gastrointestinal Symptoms Have Alterations in Intestinal Neurotransmitter Pathways. Dig Dis Sci;2026 (Jan 8)
BACKGROUND AND AIMS: Emerging evidence supports a strong bidirectional relationship between the gastrointestinal system and the central nervous system, referred to as the gut-brain axis. This axis has been proposed to be of particular importance in the context of neurodevelopmental disorders including autism spectrum disorder (ASD). While neurotransmitter dysregulation and synaptic dysfunction have been well documented in the brains of individuals with ASD, less is known about how these molecular changes manifest in the gut METHODS: In this study, we analyzed RNA signatures in biopsies from the ileum and colon of children with chronic GI symptoms, either with (cases) or without (controls) an autism diagnosis. RESULTS: Genes associated with serotonin signaling (AANAT, HTR1D, HTR3A, SLC6A4), dopamine synthesis and receptor function (DDC,DRD5), and glutamatergic pathways (GAD2, GRIK3, GLUD1, GRIN2C, SLC1A3, SLC38A1, GABRP, GABRB3, GRM4) were significantly altered in children with ASD, suggesting a broad disruption in neurotransmitter homeostasis in the gut. Additionally,several neuroactive compounds, such as NPY, GIP, NTS, AREG, GKN1, GHRL, LEP, PDYN, and EDN2, were also impacted,further implicating altered neuroimmune interactions and developmental pathways in gut tissues. CONCLUSIONS: These findings highlight the potential role of the gut as a critical modulator of neurodevelopmental processes in ASD and suggest that gut-brain axis dysregulation may contribute to the ASD phenotype. This study provides new insights into the molecular mechanisms in the gastrointestinal tract in individuals with ASD and suggests novel therapeutic targets for restoring healthy gut-brain communication.
Lien vers le texte intégral (Open Access ou abonnement)
31. Wang B, Ahmed A, Murari K, Cheng N. Alterations in electroencephalography signals in female fragile X syndrome mouse model on a C57BL/6J background. Physiol Behav;2026 (Jan 5);306:115217.
Fragile X Syndrome (FXS), the most common monogenic cause of autism spectrum disorder, exhibits sex differences in prevalence and phenotypic severity. Electroencephalography provides translational insights into its pathophysiology, yet prior research focuses predominantly on males. In C57BL/6J mice, male Fmr1 knockout models show increased absolute gamma power across developmental stages, while female phenotypes, particularly in juveniles, remain uncharacterized. This study addresses this gap by comparing juvenile female Fmr1 knockout and wild-type mice. Frontal-parietal differential electroencephalography was recorded in home cage, light-dark test, and open field test. Analyses included absolute/relative power, peak alpha frequency, theta-beta ratio, phase-amplitude coupling, amplitude-amplitude coupling, and multiscale entropy. Knockout mice exhibited reduced absolute theta, alpha, and beta power across all conditions. Relative power analysis revealed decreased alpha and increased gamma activity. Phase-amplitude coupling showed diminished alpha-gamma coordination, while amplitude-amplitude coupling displayed state-dependent alterations. Peak alpha frequency and theta-beta ratio were reduced or unchanged depending on condition. Signal complexity remained comparable between genotypes. Behaviorally, knockout mice demonstrated hyper-exploration in the open field test. No robust correlations emerged between electroencephalography power and behavior. Our results demonstrate that juvenile female Fmr1 KO mice on a B6 background exhibit EEG alterations highly consistent with those reported in FXS patients, particularly increased gamma and reduced alpha power. The increase in gamma activity represents a conserved biomarker of potential cortical hyperexcitability, while alpha power reductions and decreased peak alpha frequency implicate thalamocortical network involvement. Together, these findings highlight the translational value of this model for studying core circuit dysfunctions in FXS.
Lien vers le texte intégral (Open Access ou abonnement)
32. Williams EG, Sivathasan S, Anthony N, Eack SM, Mazefsky CA. Racial disparities in depression and mental health service use among black and white autistic adults. Sci Rep;2026 (Jan 8)
Studies have reported that autistic individuals are diagnosed with major depressive disorder (depression) at rates significantly higher than their non-autistic peers. While studies have shown that Black autistic individuals may be particularly vulnerable to experiencing depression, few studies have examined rates of lifetime depression diagnosis and symptom burden within this population in comparison to other racial groups, in particular White autistic individuals. This study addresses this gap by comparing demographic differences and mental health diagnosis, symptoms, and service use for Black and White autistic adults with and without a lifetime depression diagnosis, offering insights to guide future research and clinical practice to address the mental health needs of autistic individuals. Data were drawn from the Relationships, Employment, Autonomy, and Life Satisfaction (REALS) study, which includes self-reported history of mental health diagnoses, as well as measures of current anxiety and depression symptoms. Bivariate analyses were conducted to examine demographic, mental health service use, and clinical differences among an age- and income-matched sample of Black and White autistic participants, stratified by whether they had received a depression diagnosis in their lifetime (past and/or current). The study included 179 autistic adults (93 Black, 86 White). Black autistic adults with a lifetime depression diagnosis had higher income, education, and employment rates than those without a lifetime depression diagnosis. White participants showed no such differences. Further, Black participants reported similarly high current depression symptoms and anxiety, regardless of whether they had a depression diagnosis or not. That is, Black autistic adults without a lifetime depression diagnosis report experiencing comparable levels of current depressive symptoms as those with a lifetime depression diagnosis, which for both groups fall near clinical cutoffs. Findings underscore the need for more nuanced mental health services that address the complex needs of autistic adults, particularly Black individuals who remain underrepresented in autism research. The similarly high anxiety and depression symptom levels across Black autistic adults with and without a lifetime depression diagnosis suggest that those with depression and who have access to mental health services may not find that such services fully address ongoing distress. The elevated rates of co-occurring mental health conditions among those with a history of depression point to the importance of integrated, intersectional approaches to care that consider both racial identity and neurodivergence.
Lien vers le texte intégral (Open Access ou abonnement)
33. Yin S, Li Z, Guan L, Yue Z, Wang J, Zhu J, Han Y, Li Q, Lin L, Dai Y, Chen H, Chen Y, Li Y, Ke X. Machine Learning-Based Early Prediction Model for Autism Spectrum Disorder in Infants Using Acoustic Feature. Autism Res;2026 (Jan 8)
This study aimed to create a machine learning-based predictive model for early detection of autism spectrum disorder (ASD) in infants using acoustic features. Conducted as a prospective cohort at Nanjing Medical University from 2019 to 2024, infants aged 9-18 months from an ASD sibling cohort participated. Behavioral and vocalization data were gathered during the Still-Face Paradigm, with ASD diagnoses confirmed at 36 months through ADOS and ADI-R assessments. Researchers extracted 4368 acoustic features from the recordings and applied LASSO regression for dimensionality reduction, identifying 39 key features. A support vector machine (SVM) classifier was then developed, tested with four kernel functions-linear, radial basis function, polynomial, and sigmoid-via tenfold cross-validation. The final sample included 88 infants, 28 of whom were diagnosed with ASD. The sigmoid kernel yielded the best results, achieving a 92.86% sensitivity, 93.33% specificity, and a 93.18% accuracy. Notably, spectral and energy-related features were significantly higher in ASD infants (p < 0.01). These findings suggest that acoustic features can serve as early, noninvasive biomarkers for ASD, and the SVM model demonstrates significant promise for early screening and intervention efforts.
Lien vers le texte intégral (Open Access ou abonnement)
34. Yin T, Liu M, Wang J, Han X, Wang Y, Hu X, Luo Y, Deng Z, Sun M, Qu L, Qin S, Lu H, Liu Q, Zhao H. Spontaneous Play Profiles in Mandarin-Speaking Preschool Children With Autism, Developmental Delay, and Typical Development: A Fine-Grained Comparative Analysis. Autism Res;2026 (Jan 8)
This study examined the spontaneous play behaviors of Mandarin-speaking preschool children with autism spectrum disorder (ASD), developmental delay (DD), and typical development (TD) during naturalistic parent-child interactions. Ninety children aged 36-72 months (30 per group) participated in a 15-min parent-child free-play session, and a standardized 10-min segment from each session (minutes 3-13) was coded and analyzed. Play behaviors were coded using a fine-grained developmental framework and analyzed using both unidimensional (duration and frequency) and multidimensional (variety, highest mastered play level and weighted average mastered play levels) indicators. After adjusting for FSIQ, spontaneous play duration (F(2, 86) = 14.54, p < 0.001, η(2) = 0.25) and weighted average mastered play level (WA-MPL; F(2, 86) = 3.67, p = 0.03, η(2) = 0.08) differentiated the ASD group from both the TD and DD groups. In contrast, symbolic play in this naturalistic context was more closely associated with cognitive level than with diagnostic status. At the subcategory level, Varied Action Sequences (VS) emerged as a particularly informative high-level form of pre-symbolic play: children with ASD showed lower VS frequency than both TD and DD peers, and reduced VS variety relative to the DD group. These findings underscore the importance of multidimensional assessment and fine-grained coding for capturing distinct play profiles in ASD and informing developmentally appropriate intervention targets. This study investigated how Mandarin‐speaking preschool children with autism spectrum disorder (ASD), developmental delay (DD), or typical development (TD) engaged in naturalistic play with their parents. Observations of 90 children during 10‐min free‐play sessions revealed that children with ASD spent less time in spontaneous, child‐initiated play and showed weaker organization of play complexity across the session, with fewer and less varied multi‐step play sequences. In this context, symbolic play appeared developmentally driven rather than ASD‐specific. These findings suggest that fine‐grained coding combined with multidimensional assessment may help characterize ASD play profiles and inform developmentally appropriate intervention targets. eng
Lien vers le texte intégral (Open Access ou abonnement)
35. Yıldız Bayındır B, Coskun M, Kucukgergin C, Karayagmurlu A. A case-controlled study of serum BDNF, GDNF, and NGF levels in autistic youth with and without bipolar disorder. J Affect Disord;2026 (Jan 5);399:121042.
BACKGROUND AND AIM: Research on the different aspects of bipolar disorder (BD) in special populations, such as youth with autism spectrum disorder (ASD) is limited. This case-controlled study aimed to investigate the serum levels of brain-derived neurotrophic factor (BDNF), glial-derived neurotrophic factor (GDNF), and nerve growth factor (NGF) in youth with ASD with and without comorbid BD. METHODS AND PROCEDURES: Forty young subjects (13.47 ± 2.89 years) diagnosed with ASD with comorbid BD were included in the case group, and 40 age/gender-matched subjects with diagnosis of ASD without any mood disorders were included in the control group. The serum levels of BDNF, GDNF, and NGF were measured using enzyme-linked immunosorbent assays. The Childhood Autism Rating Scale (CARS) was used to assess ASD severity in the subjects. OUTCOMES AND RESULTS: Serum BDNF levels were significantly lower in the case group than in the control group (p = 0.002). No significant differences were observed in GDNF and NGF levels between the two groups (p > 0.05). The severity of ASD was significantly higher in the case group (p = 0.001). CONCLUSIONS AND IMPLICATIONS: Low serum BDNF levels may be associated with BD comorbidity in youth with ASD. Given the difficulty in diagnosing BD in this population, serum BDNF levels may be a biomarker associated with the development/diagnosis of BD in youth with ASD. Further studies with larger sample sizes are required to validate these findings.
Lien vers le texte intégral (Open Access ou abonnement)
36. Zhang L, He W, Huang P, Zhong L. A risk prediction model for autism spectrum disorder integrating biopsychosocial factors: a systematic review and meta-analysis with multicenter validation. Transl Pediatr;2025 (Dec 31);14(12):3219-3230.
BACKGROUND: Early identification of individuals at high risk for autism spectrum disorder (ASD) is crucial for optimizing intervention strategies and improving outcomes. This study aims to develop a risk prediction model integrating biopsychosocial factors through a systematic review with multicenter validation. METHODS: A comprehensive search was conducted across PubMed, Cochrane Library, and Embase for articles on biopsychosocial ASD risk factors during 2010-2023. Two reviewers independently extracted data. Meta-regression analysis of 37 systematic reviews/meta-analyses identified 18 potential risk factors by Stata 16.0. Four core variables were included in the prediction model, while 14 were excluded due to low-quality evidence or insufficient data after screening. Multivariate logistic regression with least absolute shrinkage and selection operator (LASSO) variable selection derived model weights. External validation was performed in a Chinese cohort (n=1,175) from two tertiary hospitals. Model discrimination was assessed via receiver operating characteristic (ROC) curves and clinical utility by decision curve analysis (DCA). RESULTS: Analysis of 37 systematic reviews identified four independent predictors of ASD risk: adverse childhood experiences (ACEs) [odds ratio (OR) =2.11; 95% confidence interval (CI): 1.61-2.77], preterm birth (OR =3.3; 95% CI: 1.24-7.60), antidepressant exposure during pregnancy (OR =1.17; 95% CI: 1.08-1.21), and perinatal antibiotic exposure (OR =1.52; 95% CI: 1.09-2.12). The risk model formula was: 0.82 × (ACEs) + 1.19 × (preterm birth) + 0.42 × (antidepressant exposure) + 0.21 × (perinatal antibiotic exposure). External validation showed excellent discrimination [area under the curve (AUC) =0.78; 95% CI: 0.75-0.81]. DCA confirmed significantly higher net clinical benefit compared to universal intervention strategies. CONCLUSIONS: This study developed a risk prediction model integrating biopsychosocial factors, providing an evidence-based tool for early identification of individuals at high risk for ASD.
Lien vers le texte intégral (Open Access ou abonnement)
37. Zhang Y, Chen Y, Li W, Tang L, Wang G, Li J, Feng X. Circadian Clock Dysfunction Exacerbate Autistic-Like Behaviour and Wnt/β-Catenin Signalling Dysregulation in ASD Mice and Treatment of Melatonin. J Cell Mol Med;2026 (Jan);30(1):e70991.
Between 50% and 80% of children diagnosed with Autism Spectrum Disorder (ASD) are estimated to experience sleep disturbances, highlighting the importance of exploring the role of the circadian clock in ASD development. Previous studies have identified a potential link between Bmal1 deficiency and ASD in mouse models. In this study, we first characterise the expression patterns of circadian proteins. Subsequent behavioural tests and western blot analyses revealed that mice exposed to valproic acid (VPA) displayed autistic-like behaviours, along with altered circadian protein expression and disruption in Wnt signalling protein levels. Further studies showed that Bmal1 knockout exacerbates these behavioural changes and further impaired Wnt signalling and downstream protein expression in VPA-exposed mice. Notably, treatment with the circadian biomarker melatonin reversed Wnt downregulation and improved the behaviour deficit in VPA-exposed mice. The therapeutic effect of melatonin appears to be mediated by its regulation of the Wnt/β-catenin signalling pathway, which is linked to Bmal1-mediated circadian dysfunction. Together, our findings provide experimental evidence supporting the role of circadian dysregulation in ASD pathogenesis, highlight the therapeutic potential of melatonin in VPA-exposed mice, and suggest that Bmal1 may act as a co-activator in the Wnt-β-catenin signalling pathway.