Pubmed (TSA) du 28/08/26
1. Adisu MA, Derso YA, Gessesse ZA, Gessesse AD, Molla B, Zemariam AB, Habte TE. The burden of autism spectrum disorder among children and adolescents in Ethiopia (1990-2023) with projections to 2050: insights from the Global Burden of Disease study. BJPsych Open. 2026; 12(5): e219.
BACKGROUND: Despite growing recognition as a public health concern, the burden of autism spectrum disorder (ASD) in Ethiopia remains poorly characterised owing to limited diagnostic capacity and epidemiological data, hampering evidence-based policy and intervention planning. AIMS: This study aimed to quantify the longitudinal burden of ASD in the Ethiopian paediatric population from 1990 to 2023 and project future trends to 2050 to inform national health strategies. METHOD: Using Global Burden of Disease (GBD) 2023 data, we estimated ASD prevalence, incidence and disability-adjusted life-years (DALYs) among Ethiopian children and adolescents. Trends were analysed using joinpoint regression and future burden was forecast to 2050 using autoregressive integrated moving average (ARIMA) modelling. RESULTS: Between 1990 and 2023, ASD prevalence increased by 155%, from 271 805 to 693 644 cases. Correspondingly, the age-standardised prevalence rate increased from 950 to 1185 cases per 100 000 population. Although annual incident cases nearly doubled (from 24 576 to 47 274), the age-standardised incidence rate declined slightly from 86 to 81 cases per 100 000. DALYs increased by 162% to 134 386 in 2023, while the age-standardised DALY rate increased from 179 to 230 per 100 000. Projections to 2050 suggest that the overall ASD burden will persist, with a stable incidence rate but an increasing DALY rate. CONCLUSIONS: Nearly 700 000 Ethiopian children and adolescents were living with ASD in 2023. The significant increases in prevalence and DALYs over three decades underscore the urgent need for a comprehensive national strategy, including enhanced diagnostic infrastructure and early intervention programmes.
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2. Anuroj K. Cerebral folate deficiency, developmental difficulties in autism spectrum disorder and the role of leucovorin: a narrative review of mechanisms and clinical evidence. Drugs Context. 2026; 15.
Cerebral folate deficiency (CFD) has recently emerged as a potentially relevant contributor to developmental difficulties in a subset of individuals with autism spectrum disorder (ASD). CFD is characterized by reduced central nervous system folate availability despite adequate systemic folate status and has been commonly linked to folate receptor-α autoantibodies (FRAAs), which impair folate transport across the choroid plexus. Disruption of folate-dependent one-carbon metabolism may adversely affect neurodevelopment through multiple mechanisms. Leucovorin (folinic acid) represents a potential therapeutic option for CFD associated with FRAAs, and interest in its clinical use has grown in recent years. This narrative review summarizes the biological mechanisms linking CFD to developmental disturbances in ASD and synthesizes current clinical evidence regarding the use of leucovorin as a therapeutic intervention. Despite a compelling mechanistic basis, clinical evidence remains limited. Long-term safety and efficacy data are lacking, and existing studies have rarely incorporated biologically informed patient selection or biomarker-based stratification, whilst the inherent heterogeneity of ASD further complicates interpretation of treatment outcomes. Larger, well-designed studies are necessary to determine the intervention’s efficacy and identify responsive sub-groups, thereby informing clinical practice. Nevertheless, given the limited developmental window during which treatment for CFD would offer tangible developmental benefits and the inaccessibility of laboratory evaluations for CFD or FRAA positivity in many settings, this review also discusses an alternative pragmatic approach involving a therapeutic trial through shared decision making. This article reviews the importance of folate in brain metabolism and development, and the potential consequences of impaired folate transport into the brain. The review highlights folate receptor-α autoantibodies as one possible mechanism that may impair folate transport into the brain, causing cerebral folate deficiency (CFD) in some individuals with autism spectrum disorder (ASD), in whom the clinical manifestations may vary depending on the timing of the deficiency. In these cases, leucovorin (folinic acid), a reduced form of folate, could help replenish the brain’s folate supply through alternative transport pathways. This article also reviews published clinical trials investigating leucovorin treatment in ASD. Although the current evidence base remains small, heterogeneous and methodologically limited, several studies have reported encouraging findings, particularly in developmental domains related to language, communication and social functioning. Leucovorin has generally been well tolerated, although mild gastrointestinal and behavioural side effects have been reported in some patients. The review also discusses current uncertainties, including the unclear prevalence of CFD in ASD, the unclear causes of folate receptor-α autoantibodies and the limited evidence supporting dietary approaches such as abstinence from cow’s milk products. Overall, the available evidence on leucovorin is encouraging but remains insufficient to support its routine use in all individuals with ASD, and further well-designed studies are needed. The review also discusses practical considerations in settings where diagnostic testing for CFD is unavailable. eng.
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3. Attanasio M, Mazza M, Le Donne I, Covone N, Valenti M. Moral Decision-Making, Machiavellianism, and Social Cognition in Autism: An Exploratory Study. J Autism Dev Disord. 2026.
PURPOSE: The study explored moral decision-making in autistic and neurotypical individuals through a set of moral dilemmas that varied in the intentionality of harm and personal risk involvement. In addition, the role of Theory of Mind (ToM), empathy, and Machiavellian attitudes was explored. METHODS: Twenty autistic (mean chronological age 21.60 ± 8.10; mean years of education 12.40 ± 1.93) and twenty-nine neurotypical (mean chronological age 22.28 ± 2.8; mean years of education 14.38 ± 2.27) adolescents and adults participated in the study. Mixed-design repeated-measures ANOVAs were conducted to examine the effects of group and dilemma characteristics. Exploratory correlations were performed between individual difference measures and utilitarian choices in both groups. RESULTS: Our results showed overall similar response patterns between the groups, with higher moral acceptability ratings for utilitarian actions in incidental than in instrumental dilemmas. Both groups showed a reduction in utilitarian choices in instrumental dilemmas, although this pattern was less pronounced in the autistic group. Personal risk involvement increased utilitarian choices in the neurotypical group, whereas it did not significantly influence choices in the autistic group. Autistic participants reported lower empathy and ToM abilities, whereas no significant differences emerged in Machiavellianism. Nevertheless, exploratory correlations suggested relationships between ToM, Machiavellianism, and utilitarian choices in specific dilemma conditions within each group. CONCLUSION: Moral decision-making in autistic individuals was broadly comparable to that of neurotypical individuals in overall outcomes, while context-dependent patterns may reflect differences in how harm intentionality, personal involvement, and normative constraints are integrated into moral decision-making.
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4. Bjørklund G, Watts D. Hair iron-manganese balance in a large pediatric autism spectrum disorder cohort: Coordinated variation and an exploratory low-Fe/high-Mn subgroup. J Trace Elem Med Biol. 2026; 97: 127943.
BACKGROUND: Iron (Fe) and manganese (Mn) are essential metals that share several transport and regulatory pathways. Reduced Fe status may increase Mn uptake and retention, potentially increasing susceptibility to Mn-associated neurotoxicity. Children with autism spectrum disorder (ASD) frequently have selective diets and micronutrient inadequacies, but the relationship between hair Fe and Mn has received limited attention. OBJECTIVES: This study aimed to describe age- and sex-specific distributions of hair Fe and Mn in a large pediatric ASD cohort, evaluate the association between the two elements, and explore the occurrence of a subgroup with relatively low hair Fe and relatively high hair Mn. METHODS: This retrospective cross-sectional study analyzed pre-existing hair trace-element records from a commercial laboratory for 2151 children and adolescents with an ASD diagnosis recorded in the laboratory datasets, including 1808 boys and 343 girls aged 0-18 years. Individual diagnostic records were unavailable, and the recorded diagnoses could not be independently verified. The laboratory-referred cohort was not population-representative, and no neurotypical control group was available. Hair Fe and Mn were measured by inductively coupled plasma mass spectrometry and reported in mg/100 g hair. Distributions were summarized by sex and two-year age bands. Associations between natural-log-transformed Fe and Mn were examined using correlation and linear regression adjusted for age and sex. An exploratory low-Fe/high-Mn subgroup was defined using cohort-relative thresholds of hair Fe ≤ 0.7 mg/100 g and hair Mn ≥ 0.042 mg/100 g. RESULTS: Median hair Fe was 0.8 mg/100 g, and median hair Mn was 0.024 mg/100 g. Concentrations showed little consistent variation across age groups or between boys and girls. Log-transformed Fe and Mn were strongly positively correlated (r = 0.66). In linear regression, log Fe was positively associated with log Mn (β = 1.22; 95% CI, 1.16-1.28; p < 0.001), and the association was unchanged after adjustment for age and sex. The model explained 44% of the variability in log Mn. The exploratory low-Fe/high-Mn subgroup comprised 62 participants (2.9%) and had a markedly lower median Fe:Mn ratio than the remaining cohort. More stringent sensitivity definitions identified progressively smaller subgroups. CONCLUSIONS: Hair Fe and Mn concentrations were strongly and positively associated in this pediatric ASD cohort, rather than showing the inverse relationship that might be expected from Fe deficiency-related Mn accumulation. A small, threshold-dependent subgroup had relatively low hair Fe, relatively high hair Mn, and a reduced Fe:Mn ratio. These hair-based patterns should not be interpreted as evidence of systemic Fe deficiency, excessive Mn exposure, or a distinct clinical phenotype. Future studies should combine standardized hair analysis with established Fe-status biomarkers, direct measures of Mn exposure, dietary and supplementation data, appropriate control groups, and validated neurodevelopmental assessments.
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5. Chen L, Jiang W. Approximate number system processing in school-age children with high-functioning autism: Behavioral and neural evidence from an event-related potential study. Neuropsychologia. 2026; 232: 109569.
BACKGROUND: The approximate number system (ANS) is foundational for mathematical development, but its characteristics and neural mechanisms in children with autism spectrum disorder (ASD) remain unclear. While mathematical difficulties are common in ASD, whether nonsymbolic numerosity processing deficits contribute and how perceptual factors modulate such processing require investigation. This study evaluated the Weak Central Coherence (WCC) and Executive Dysfunction (EDF) accounts of autism by examining whether perceptual grouping (connectedness) differentially affects ANS processing in children with high-functioning autism (HFA) compared to typically developing (TD) peers. METHODS: Twenty-nine school-age children (14 HFA, 15 TD), matched on age, IQ, and working memory, completed a dot array comparison task during EEG recording. Numerical ratio and perceptual grouping (connectedness) were manipulated to examine effects on behavioral accuracy and ERP components (N1, P2, P3). This manipulation was designed to evaluate competing theoretical accounts of autism-WCC and EDF-by testing whether perceptual grouping cues differentially modulate ANS processing in HFA versus TD children. RESULTS: Behaviorally, HFA children showed lower accuracy than TD children, and accuracy was strongly affected by numerical ratio and connectedness. The complementary grouped binomial GLMM additionally indicated a Group × Ratio interaction, with the between-group difference concentrated in the low-ratio (i.e., greater numerical separation and easier discrimination) condition. Neurally, HFA children exhibited enhanced frontal P2 amplitudes specifically during core numerical processing (without connecting lines), suggesting atypical attentional or cognitive control engagement during numerosity estimation. Perceptual grouping modulated early attentional allocation (N1 amplitudes) similarly across groups. CONCLUSIONS: Children with HFA demonstrate impaired behavioral ANS acuity and atypical neural recruitment during nonsymbolic numerosity processing. These findings indicate ANS processing is affected in HFA at both behavioral and neural levels, though not differentially modulated by perceptual grouping. The absence of a significant Group × Connectedness interaction argues against the WCC account. Rather, the overall pattern of reduced ANS accuracy and enhanced P2 responses in HFA is more consistent with an EDF framework, indicating greater neural recruitment during ANS processing. The results provide evidence for inefficient neural processing underlying numerical difficulties in autistic children, with implications for understanding mathematical learning in this population.
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6. Chen ZY, Li ZJ, Lin X, Wu SM. A Study on the Influence of Empathy on Helping Behavior of Children With Autism Spectrum Disorder Under Different Affective Priming Conditions. J Autism Dev Disord. 2026.
PURPOSE: This study explored empathy’s effect on helping behavior of children with autism spectrum disorder (ASD) under different affective priming. Experiment 1 examined the predictive effect of autistic children’s empathic ability on their helping behavior; Experiment 2 explored whether positive versus negative affective priming moderated this predictive effect for high-empathy autistic children. METHODS: Two experiments were carried out. Experiment 1 used the Chinese Measure of Empathy and Sympathy (MES) to group participants into high/low-empathy groups by top/bottom 30% scores, with the Block-Dropping Task measuring helping behavior. Experiment 2 recruited only children with the top 30% MES scores as high-empathy subjects, divided them equally into positive/negative priming subgroups; cartoon clips induced emotion, and the same task assessed helping behavior. RESULTS: Experiment 1 revealed that the high-empathy group demonstrated significantly higher helping behavior scores (M = 3.54, SD = 0.51) compared with the low-empathy group (M = 1.29, SD = 1.46). Empathic ability exerted a significant positive predictive effect on the helping behavior of children with ASD (Z = - 4.929, p < .001). Experiment 2 indicated that no significant disparity in helping behavior was observed between the two affective priming groups, and affective priming valence showed no significant influence on the helping behavior of high-empathy autistic children (Z = - 1.152, p = .250). CONCLUSION: These findings illuminate the roles of empathic ability and affective priming in the helping behavior of autistic children, offering novel insights into the mechanisms underlying their social-behavioral development and informing directions for educational intervention.
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7. Demopoulos C, Jesson X, Gerdes MR, Jurigova BG, Hinkley LB, Ranasinghe KG, Desai S, Findlay A, Nagarajan SS, Marco EJ. MEG resting state alpha and beta band functional connectivity in male children with autism and sensory processing dysfunction. J Neural Eng. 2026; 23(4).
Objective.Sensory processing dysfunction (SPD) not only affects most individuals with autism spectrum disorder (ASD), but at least 5% of children without ASD also experience SPD. Our understanding of the relationship between sensory dysfunction and resting state brain activity is still emerging. The objective of this study was to examine group differences and behavioral associations with resting state alpha and beta oscillatory activity in ASD, SPD, and typically developing control (TDC) groups.Approach.This study compared long-range resting state functional connectivity of neural oscillatory behavior in 60 male children aged 8-12 years with (ASD;N= 18), those with (SPD;N= 18) who did not meet ASD criteria, and typically developing control participants (TDC;N= 24) using magnetoencephalography. Functional connectivity analyses were performed in the alpha and beta frequency bands, which are known to be implicated in sensory information processing. Group differences in functional connectivity and associations between sensory abilities and functional connectivity were examined.Main results.Distinct patterns of functional connectivity differences between ASD and SPD groups were found only in the beta band, but not in the alpha band. In both alpha and beta bands, ASD and SPD cohorts differed from the TDC cohort. Distinct patterns of associations between imaginary coherence and performance-based measures of sensory processing and verbal abilities were identified across groups.Significance.These findings demonstrate distinct long-range alpha and beta band phase-lagged neural synchrony alterations in SPD and ASD that are associated with sensory processing abilities in male children. These measures could serve as potential candidate neurophysiological markers for ASD and SPD at the group level, and may provide mechanistic insights relevant to biomarker development.
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8. Evenepoel M, Tuerlinckx E, Derrien M, Moerkerke M, Prinsen J, Vila AV, Steyaert J, Daniels N, Boets B, Raes J, Alaerts K. Corrigendum to « A pilot study on the role of the oxytocinergic system in gut microbiome composition in children with autism: baseline associations and effects of intranasal oxytocin » [Brain, Behav. Immun. 136 (2026) / 106579]. Brain Behav Immun. 2026: 106977.
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9. Fan F, Wang B, Han F. The brain-gut axis in autism spectrum disorder: from gastrointestinal dysfunction to neuroimmune mechanisms. Front Psychiatry. 2026; 17: 1907757.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social deficits and repetitive behaviors, often accompanied by gastrointestinal (GI) symptoms such as constipation, diarrhea, and abdominal pain. Emerging evidence highlights the gut-brain axis as a key pathway linking GI dysfunction to ASD pathophysiology. This review synthesizes current findings on the interplay among dietary patterns, gut microbiota dysbiosis, intestinal barrier dysfunction, and neuroimmune activation in ASD. We also discuss shared genetic vulnerabilities and environmental factors influencing both gut and brain function. Finally, we evaluate microbiota-targeted interventions, including probiotics and fecal microbiota transplantation, as potential therapeutic strategies. Understanding these mechanisms may inform personalized approaches to managing GI and behavioral symptoms in ASD.
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10. Fenning RM, Northrup JB, Baker JK, Mazefsky CA, Neece CL. Multimethod examination of change in autistic preschoolers’ emotion dysregulation in the context of parenting stress intervention. J Child Psychol Psychiatry. 2026.
BACKGROUND: Many autistic preschoolers experience heightened emotion dysregulation and rely heavily on parents for co-regulatory support, which may be compromised by elevated parenting stress. METHODS: We examined secondary outcomes of a randomized trial (ClinicalTrials.gov – NCT03459625) to assess downstream effects of parent stress-reduction interventions (MBSR vs. Psychoeducational Support) on emotion dysregulation in autistic children with diverse developmental and behavioral profiles (N = 117). We also explored cross-method, cross-context correspondence between parent report of children’s regulatory tendencies and observational ratings derived from independent and dyadic parent-child problem-solving tasks. RESULTS: Parent-reported child dysregulation and observed dyadic dysregulation decreased significantly across groups, with reduced parenting stress predicting decreased parent-reported dysregulation. Conversely, observed child independent dysregulation remained relatively stable. Meaningful multimethod associations were identified. CONCLUSIONS: Results suggest important collateral benefits of parenting stress reduction during the sensitive postdiagnostic period and highlight the sensitivity and utility of parent-reported and observed dyadic dysregulation as trial outcomes, including the new Emotion Dysregulation Inventory-Young Child. Implications for conceptualization and measurement of emotion dysregulation in autism are discussed, as are considerations for optimizing environmental supports.
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11. Garza Guerra AJ, Mata Cortes EDR, Adame Rocha GH, Fernández Zambrano SM. Navigating Barriers and Challenges: A Narrative Review of the Experiences of Autistic People and Their Families in Latin America. Cureus. 2026; 18(7): e113505.
Research on autism in Latin America has grown substantially over the past two decades; however, evidence regarding the experiences of autistic people and their families remains fragmented across countries and disciplines. This narrative review aimed to synthesize the available evidence on the experiences of autistic people and their families while navigating health, education, and social protection systems across Latin America. A literature search was conducted in PubMed for studies published between January 2000 and July 2026. The search combined the terms « autism spectrum disorder, » « autism, » and « autistic » with the names and demonyms of all countries in Latin America and the Caribbean, as well as the regional terms Latin America and Central America. Studies addressing pathways to autism identification, access to health services, socioeconomic inequalities, family experiences, educational inclusion, professional training, and current regional challenges were included. A total of 75 studies met the inclusion criteria and were synthesized narratively. Across the region, families consistently recognized developmental differences during the first years of life; however, pathways to autism identification were frequently prolonged by fragmented health systems, shortages of trained professionals, and limited access to specialized services. Socioeconomic and geographic inequalities further restricted access to assessment, supports, and ongoing services. Families played a central role in coordinating care, navigating complex systems, and advocating for the rights of autistic people. Educational inclusion remained limited by insufficient resources, inadequate teacher preparation, and inconsistent implementation of inclusive policies. The available evidence was concentrated in a small number of countries, highlighting important gaps in regional knowledge. Overall, autistic people and their families continue to encounter substantial barriers while navigating health, education, and social protection systems across Latin America. Strengthening early identification, expanding professional training, improving intersectoral coordination, and increasing research capacity across underrepresented countries are essential priorities for advancing equitable, coordinated, and inclusive supports throughout the region.
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12. Ge H, Lee PP, Matthews S. Comprehension of Restrictive Focus With Zing6hai6 (« Only ») in School-Age Cantonese-Speaking Autistic and Neurotypical Children. J Speech Lang Hear Res. 2026: 1-22.
PURPOSE: This study investigated the comprehension of restrictive focus with the focus particle zing6hai6 (« only ») in school-age Cantonese-speaking autistic and neurotypical children. Specifically, it examined whether autistic children differed from neurotypical children in the comprehension of focus with zing6hai6 and explored the effects of age on their performance. METHOD: A total of 75 Cantonese-speaking children (42 autistic and 33 neurotypical) between 5 and 10 years old completed a picture verification task assessing their interpretation of restrictive focus. They were matched on age and working memory. RESULTS: Neurotypical children demonstrated a comprehensive understanding of zing6hai6-focus and showed a preference for preverbal zing6hai6 over presubject zing6hai6, consistent with cross-linguistic findings that children prefer to associate « only » with the verb phrase. Autistic children exhibited partially neurotypical performance: Their interpretation of presubject zing6hai6 aligned with neurotypical peers, whereas their understanding of preverbal zing6hai6 was less accurate. In addition, autistic children were slower than their neurotypical peers in processing speed overall. The findings further reveal a delay in autistic children, as manifested in persistent accuracy differences but gradual convergence in processing speed relative to their neurotypical peers with increasing age. CONCLUSION: These findings suggested a distinct and delayed pattern of interpreting restrictive focus with zing6hai6 (« only ») in Cantonese-speaking autistic children and highlighted the possible influence of cognitive maturation and the inherent complexity of syntax-semantics interface structures on their comprehension.
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13. Gomez Batista S, Marsden A, Carpenter L, Bradley CC, Ros-DeMarize R. I-PCIT Engagement and Outcomes in Children With Neurodevelopmental Disorders. Behav Ther. 2026; 57(5): 875-88.
Parent Child Interaction Therapy (PCIT) is an evidence-based behavioral parent training program that has shown efficacy in reducing disruptive behaviors for children with neurodevelopmental disorders (NDDs) including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and developmental delays. The current study examined the impact of child and parent characteristics on (a) treatment completion and engagement (b) child behavioral outcomes, and (c) parenting outcomes. Participants included 68 parent-child dyads (children aged 2-6) with NDD diagnoses who participated in a time-limited version of internet-delivered PCIT (I-PCIT). Measures included treatment attrition, homework completion, parent reports of parenting strategies, child behavior, and parenting stress, as well as coded observations of parent use of treatment skills and child compliance. Treatment engagement findings indicated that parents of children with a diagnosis of ADHD and children with higher receptive language levels were more likely to complete treatment. Few predictors of child treatment outcomes were identified. Child ASD diagnosis was predictive of lesser improvement in only parent-reported outcome (i.e., laxness) but not observed outcomes. Parents with a diagnosis of depression demonstrated the greatest engagement and positive outcomes as defined by higher rates of treatment completion and greater improvement in parenting practices. Results underscore that I-PCIT is a robust treatment option with relatively comparable outcomes across diagnostic populations, and highlight that certain clinical presentations may facilitate treatment completion and outcomes. Future work should explore how clinical characteristics and factors may be useful in matching patients to treatment delivery modality.
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14. Gorgan RA, Ştefǎnuţ TT, Gorgan D. Computational analysis of heart rate variability in ASD and ADHD: a systematic review. Front Comput Neurosci. 2026; 20: 1911271.
Heart rate variability (HRV) represents a rich physiological signal that captures the computational dynamics of autonomic regulation. Emerging evidence suggests that atypical autonomic control contributes to the neurocognitive phenotype of neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). However, the characterization of HRV alterations in these populations remains incomplete. This review was motivated by the broader research context of the EMPOWER project, funded through the Horizon Europe program, which investigates technology-supported approaches for children with NDD, including smartwatch-based physiological sensing and machine-learning analysis of heart rate, HRV, skin temperature, and photoplethysmography signals during cognitive and relaxation tasks. The present manuscript does not report EMPOWER empirical data. Instead, it systematically synthesizes previously published studies on HRV in pediatric ASD and ADHD. The review examines how HRV has been acquired, processed, modeled, and interpreted in pediatric NDD research, with particular attention to nonlinear signal properties, computational approaches, and interactions between autonomic regulation and cognitive processes. Following PRISMA guidelines, the review surveyed publications over the past decade and included 24 empirical studies from five major databases. ASD studies most often indicated altered vagally mediated HRV and autonomic reactivity, whereas ADHD studies more often suggested task-dependent changes linked to attentional control. Cross-study comparability was constrained by substantial heterogeneity in preprocessing pipelines, feature extraction procedures, and analytical frameworks. Despite these methodological inconsistencies, current evidence supports HRV as a promising physiological signal marker of autonomic dysregulation in pediatric NDD. Nevertheless, the field requires standardized signal processing protocols and reproducible modeling approaches to elucidate the mechanistic and predictive relevance of HRV in ASD and ADHD.
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15. Messer-Soubelet C, Riffo B, Barriga O. Design, development, and pilot study of a scale for educational professionals to assess theory of mind-related skills regarding children with ASD. PLoS One. 2026; 21(8): e0355044.
BACKGROUND: Theory of mind (ToM) is a socio-cognitive capacity that enables individuals to attribute mental states to themselves and others and is increasingly recognized as relevant in educational settings, particularly when working with students diagnosed with autism spectrum disorder (ASD). However, most empirical work on ToM has focused on clinical populations, and little is known about how ToM-related skills are structured among education professionals. This article addresses this gap by developing and conducting a preliminary psychometric evaluation of a self-report instrument designed to assess ToM-related skills in professionals working with children diagnosed with ASD in school settings implementing inclusion-related policies. METHODS: A cross-sectional study was conducted with 291 professionals from Chilean schools implementing inclusion-related policies. Participants completed a newly developed self-report questionnaire. Due to institutional participation rates, the final sample was classified as a convenience sample. An exploratory factor analysis (EFA) using maximum likelihood extraction and varimax rotation was conducted to examine the latent structure of the instrument. Sampling adequacy was supported by a Kaiser-Meyer-Olkin (KMO) coefficient of 0.91. Internal consistency was assessed using Cronbach’s alpha coefficients. RESULTS: The EFA yielded a 35-item solution grouped into five factors, organized into two broad domains: « Identification of others’ mental states » (interpersonal dimension) and « Identification of one’s own mental states » (intrapersonal dimension). The interpersonal dimension emerged as a single factor encompassing emotion recognition, making inferences, and empathic response. The intrapersonal dimension was represented by four factors: awareness of one’s own thoughts and emotions, reflective ability, planning ability, and emotion regulation ability. All factors showed high internal consistency (Cronbach’s alpha > 0.8). CONCLUSIONS: This study provides preliminary evidence of the internal structure and reliability of a new self-report instrument assessing ToM-related skills in education professionals working with students diagnosed with ASD. Further validation in larger and more diverse samples is required before the instrument can be used to examine associations with classroom processes or other outcomes.
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16. Morris SL, Call NA, Mevers JL, Taylor PM. A Behavioral Economic Measure of Sensitivity to Social Rewards in Children with and without Autism Spectrum Disorder. Res Autism. 2025; 127.
It has been suggested that deviations from typical patterns of social behavior in individuals with autism spectrum disorder (ASD) may stem from a failure to experience social interactions as sufficiently rewarding (Chevallier et al., 2012). This study evaluated a behavioral economic measure of sensitivity to social rewards in 30 autistic children, 19 nonautistic children with developmental disabilities, and 19 neurotypical children between the ages of 3 and 12 years old. Participants worked for 30 s of access to social interactions with a novel adult or a leisure item in separate sessions. Each reward was delivered on a progressive ratio schedule of reinforcement, in which the number of work responses required to access the reward increased across trials. Social reward was less valuable for autistic participants compared to their neurotypical peers, but differences in nonsocial reward value were not observed. No statistically significant differences in social reward value were obtained when comparing the nonautistic developmental disability group to either autism or neurotypical group. These findings suggest that differences in reward value may be unique to autism and isolated to social stimuli. Implications for future research investigating the role of social motivation in autism are discussed.
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17. Paul JM, Mupparapu V, Chattannavar G. Homozygous 11q14.3 deletion causing oculocutaneous albinism and multisystem disorder. BMJ Case Rep. 2026; 19(8).
Oculocutaneous albinism (OCA) is characterised by hypopigmentation of the skin, hair and eyes. Developmental delay is not a commonly reported feature in OCA. A female toddler was diagnosed with OCA, global developmental delay, hypotonia and congenital heart disease.Given the coexisting neurodevelopmental and cardiac abnormalities, chromosomal microarray (CMA) analysis was performed, which revealed a homozygous deletion at chromosome 11q14.3 involving the TYR, GRM5 and NOX4 genes. Parental segregation analysis using CMA demonstrated heterozygous deletions in both parents, with the proband’s homozygous deletion resulting from overlapping parental deletions.To our knowledge, this is the first reported case of a large TYR gene deletion causing OCA, thereby expanding the mutational spectrum associated with the disorder. This case highlights the importance of detailed phenotyping and appropriate selection of genetic testing. Additionally, parental segregation analysis plays a crucial role in improving diagnostic accuracy and in understanding genotype-phenotype correlations.
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18. Psaras C, Ryu RH, Baer RJ, Palmsten K, Ballas J, Barea J, Townsend J, Wen T, Tasini T, Bandoli G. Intellectual and developmental disability diagnoses in California delivery records and adverse maternal outcomes. Pregnancy (Hoboken). 2026; 2(5): e70435.
BACKGROUND: Women with intellectual and developmental disability (IDD) are a population whose maternal health outcomes remain poorly documented. We estimated associations between maternal IDD diagnosis in California birth records and adverse maternal outcomes, and assessed whether prenatal clinical characteristics mediate these relationships. METHODS: This retrospective population-based cohort study included all deliveries ≥22 weeks’ gestation in California between 2007 and 2021, using birth and fetal death certificates linked to inpatient and emergency department records. Outcomes included severe maternal morbidity (SMM), cesarean delivery, preeclampsia, and maternal hospital admission in the year following delivery. We calculated adjusted risk ratios (aRRs) matched on maternal age and year of delivery. We examined IDD as a single category and by subtype: autism spectrum disorder (ASD), cerebral palsy (CP), intellectual disability (ID), chromosomal differences, and other IDDs. Mediators included tobacco use, pre-existing hypertension, pre-existing diabetes, preeclampsia, prepregnancy body mass index, epilepsy, depression/anxiety, bipolar disorder or schizophrenia, and adequate prenatal care. RESULTS: Among 6,435,742 singleton births, 4492 mothers (0.07%) had an IDD diagnosis. Women with IDD faced elevated risks across all adverse outcomes compared to those without: SMM-aRR: 2.77, 95% CI: 2.40, 3.19; cesarean delivery-aRR: 1.44, 95% CI: 1.39, 1.50; preeclampsia-aRR: 2.52, 95% CI: 2.30, 2.77; and hospital admission within 1 year of delivery-aRR: 4.64, 95% CI: 4.26, 5.05. While risk was elevated for all subtypes across all outcomes, ID tended to confer the highest risk. In the mediation analysis, hypertensive disorders and mental health conditions were the strongest individual mediators. In a joint mediation analysis, select perinatal characteristics explained half of the excess risk of cesarean delivery (autism), preeclampsia (autism), hospital admission (ID), and SMM (ID). CONCLUSIONS: Women with IDD documented in California birth records face substantially elevated risks of adverse maternal outcomes, with the largest disparities in hospital admission in the year following delivery. Hypertensive disorders, depression, and anxiety were the strongest potential mediators of those analyzed, and should be further evaluated as intervention targets. Given our reliance on inpatient diagnostic codes, findings may generalize most reliably to women with IDD with the highest support needs.
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19. Ribeiro-Constante J, Tangeraas T, García-Cazorla A. Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency. J Inherit Metab Dis. 2026; 49(5): e70242.
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a rare autosomal recessive disorder. Loss of this kinase leaves the branched-chain α-ketoacid dehydrogenase complex constitutively active, leading to depletion of branched-chain amino acids (BCAAs) rather than their accumulation. To date, 31 patients from 20 families have been reported. In the largest systematic series, global developmental delay and intellectual disability are universal, autism spectrum disorder occurs in 71%, epilepsy in 43%, and progressive postnatal microcephaly. Mean age at diagnosis is close to 6 years, partly because the clinical picture resembles many forms of idiopathic neurodevelopmental disability. Treatment with a high-protein diet (≥ 2 g/kg/day) and BCAA supplementation (100-250 mg/kg/day) can normalize plasma BCAA levels and appears to stabilize motor function and head circumference. In the limited data available, three patients who started treatment before age 2 did not develop autism, and the earliest-treated patient (8 months) was developing normally at 3 years of follow-up. However, current therapy has clear limitations. Tracer studies in Bckdk knockout mice show reduced incorporation of BCAA-derived nitrogen into brain glutamate even with dietary intervention, pointing to a gap between peripheral biochemical correction and what the brain actually receives. Emerging strategies include partial pharmacological suppression of BCKDH activity, stabilization of residual mutant BCKDK protein, and gene therapy. Newborn screening, feasible with existing technology, deserves consideration given the contrast in outcomes between early and late treatment. This review examines what current treatment achieves, where it falls short, and what additional strategies may be needed.
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20. Wang YF, Liu WQ, Tong L. Effects of Home Caregiving Quality on the Psychological and Behavioral Development of Vulnerable Children Aged 0-3 Years. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2026; 48(4): 624-30.
Objective To explore the short-term and long-term effects of caregiving quality on the psychological and behavioral development among children aged 0-3 years. Methods A prospective study design was adopted,and 220 vulnerable children aged 0-3 years and their primary caregivers were recruited from child care facilities and community healthcare service centers in two districts of Shanghai by stratified cluster sampling.Baseline and one-year follow-up surveys were conducted.Chi-square tests and multivariate Logistic regression analyses were conducted to examine the effects of responsive caregiving and parenting behaviors on the psychological and behavioral development of children. Results Children whose caregivers with poorer respect for children’s autonomy (OR=0.869,95%CI=0.583-0.920,P=0.031) and poorer caregiving support (OR=0.779,95%CI=0.464-0.912,P=0.020) at baseline had a higher risk of developmental delay in the problem-solving domain.In addition,reduced social stimulation in caregiving was linked to a higher risk of developmental delay in the communication domain (OR=0.885,95%CI=0.852-0.963,P=0.032).Insufficient caregiving support received by parents increased the risk of fine-motor developmental delay in children (OR=0.794,95%CI=0.653-0.952,P=0.043).Children who already exhibited developmental delay in communication,fine motor,problem-solving,or personal-social domain at baseline were more likely to experience delay in the same domain at the one-year follow-up (communication:OR=5.988,95%CI=2.344-14.502,P<0.001;fine motor:OR=5.618,95%CI=1.690-22.241,P<0.01;problem-solving:OR=15.152,95%CI=1.854-44.841,P=0.004;personal-social:OR=2.525,95%CI=1.041-6.340,P=0.041).In contrast,children with normal development at baseline demonstrated substantially lower risks of subsequent developmental delay. Conclusions Early caregiving quality has an immediate effect on children's psychological and behavioral development,and it continues to influence later development through affecting developmental outcomes.
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21. Yokokura M, Tamayama T, Kameno Y, Iwabuchi T, Goto T, Murata I, Harada T, Ichinohe N, Ouchi Y, Yamasue H. In vivo imaging of synaptic density in psychotropic-free adults with autism spectrum disorder: a [¹¹C]UCB-J PET study. Mol Psychiatry. 2026.
Synaptic dysfunction has been proposed as a key biological mechanism underlying autism spectrum disorder (ASD), yet findings from animal, genetic, postmortem, and molecular imaging studies remain inconsistent. Using positron emission tomography with [¹¹C]UCB-J, a radioligand that binds to synaptic vesicle glycoprotein 2 A and serves as an index of synaptic density, the present study investigated standardized uptake value ratio (SUVR) of [¹¹C]UCB-J in 20 unmedicated adult males with high-functioning ASD and 21 typically developed control adult males. Both voxel-wise whole-brain and region-of-interest analyses across multiple brain regions revealed no significant group differences in [¹¹C]UCB-J SUVR. These results remained unchanged after adjusting for potential confounders (i.e., full-scale IQ, trait and state anxiety, and depressive tendency) that differed between groups. Within the ASD group, [¹¹C]UCB-J SUVR in the left anterior and medial temporal lobe showed a significant positive correlation with the scores of restricted and repetitive behaviors (RRB), a core symptom of ASD, in the Autism Diagnostic Observation Schedule-2nd Edition. Contrary to previously reported pervasive reduction of synaptic density in individuals with ASD-most of whom were taking psychotropic medications-the current results, obtained using the same radioligand ([¹¹C]UCB-J) as in the previous study, suggest potential heterogeneity in the contribution of synaptic pathology to ASD. Although this exploratory finding requires replication in larger cohorts, the observed association between [¹¹C]UCB-J SUVR and RRB severity serves as a hypothesis-generating indicator of synaptic involvement of the behavioral rigidity in ASD. Together, these findings highlight the complexity of ASD-related synaptic pathology.
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22. Zhao Y, Li N, Han Y, Li N, Liu Q, Fu W, Luo G, Chen Y, Wang N, Zhou Y, Qian X. [Clinical phenotype and genetic analysis of a child with Basel-Vanagaite-Smirin-Yosef syndrome due to variant of MED25 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2026; 43(8): 592-7.
OBJECTIVE: To explore the clinical features and genetic etiology of a child with Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS). METHODS: A child diagnosed with BVSYS at Foshan Nanhai District Maternal and Child Health Care Hospital in January 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples were collected from the child and his parents. Following extraction of genomic DNA, whole genome sequencing (WGS) was carried out, and candidate variants were validated by Sanger sequencing. Pathogenicity of the candidate variants was evaluated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2025-01). RESULTS: The proband, a 4-year-and-5-month-old boy, presented with global developmental delay with intellectual disability, characteristic facial features, speech impairment, abnormal muscle tone, epilepsy, congenital heart disease, abnormal brain MRI findings, and microcephaly. WGS revealed that he has harbored compound heterozygous variants of the MED25 gene: (NM_030973.3) c.180+5G>C (maternal) and (NM_030973.3) c.394C>G (p.Arg132Gly) (paternal). Transcriptome sequencing confirmed that the c.180+5G>C variant may cause aberrant splicing with retention of intron 2. Based on the ACMG guidelines, this variant met the criteria PS3+PM2_Supporting+PP3 and was classified as likely pathogenic. The c.394C>G (p.Arg132Gly) variant resulted in an amino acid substitution and was predicted to be deleterious by in silico analysis. Based on the ACMG criteria (PM2_Supporting+PMS+PP3), it was classified as a variant of uncertain significance. A literature review showed that, among 23 BVSYS patients reported between 2015 and 2025, the most common clinical manifestations were developmental delay/intellectual disability and characteristic facial features (100%), followed by speech impairment (78.3%), abnormal muscle tone (60.8%), ocular abnormalities (60.8%), epilepsy (47.8%), and cardiac anomalies (47.8%). CONCLUSION: The c.180+5G>C and c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child.
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23. Zhou G, Zhang X, Qu X, Hu X, Peng Q, Zhang X, Zhao Z. From clinical and typical separation to autism spectrum disorder and global developmental delay differentiation: Interpretable eye-tracking-based machine learning. Res Dev Disabil. 2026; 177: 105369.
In clinical practice, objectively distinguishing children with autism spectrum disorder (ASD) from those with typical development (TD) and other neurodevelopmental conditions with overlapping symptoms, such as global developmental delay (GDD), is critical for improving developmental outcomes. This study aimed to investigate the feasibility of eye-tracking-based machine learning (ML) models in distinguishing children with developmental concerns (ASD + GDD) from TD children, and in further differentiating ASD from GDD. A total of 168 toddlers (45 ASD, 56 GDD, and 67 TD; aged 18-48 months) viewed a socially dynamic « hide-and-seek » video. Both conventional area-of-interest (AOI)-based features and combined features derived from AOI combinations were used to train five ML classifiers. A two-stage classification framework was adopted, and SHapley Additive exPlanations (SHAP) analysis was used to interpret feature contributions. Combined features consistently outperformed isolated AOI features. For TD versus clinical classification, the random forest model achieved the highest accuracy of 80.36% (sensitivity = 84.16%, specificity = 74.63%). In differentiating ASD from GDD, the k-Nearest Neighbors model achieved the highest accuracy of 79.21% (sensitivity = 71.11%, specificity = 85.71%). SHAP analysis indicated that cross-regional attention features contributed substantially to model performance. These findings suggest that eye-tracking-based ML models may provide a promising approach for early screening of developmental conditions and ASD-GDD differentiation. Combined features reflecting cross-regional attention distribution demonstrated higher discriminative value than conventional AOI measures. Future studies should validate these findings in larger, multicenter, and more balanced samples with richer dynamic eye-tracking representations.
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24. Zhu EH, Levine SZ, Morin M, Yin W, Christofferson B, Askling J, Rivera N, Reichenberg A, Buxbaum JD, Sandin S, Yip BHK. Long-Term Risk of Rheumatoid Arthritis in Individuals With Autism Spectrum Disorder: A Population-Based Matched Cohort Study. Autism Res. 2026: e70349.
To investigate the long-term risk of rheumatoid arthritis (RA) among individuals with autism spectrum disorder (ASD), addressing potential immune comorbidity in ASD populations. A population-based matched cohort was assembled using Swedish registers, including 46,164 individuals diagnosed with ASD between 1987 and 2017, matched to 4,634,895 controls by sex and birth year. Cohort members were followed from age 18 until RA diagnosis, death, emigration, or end of follow-up, providing up to 30 years of observation into adulthood. Cox proportional hazards models estimated hazard ratios (HR) for RA, with sensitivity analyses adjusting for parental autoimmune, psychiatric history, and socioeconomic status. RA diagnosis rates were similar between individuals with ASD (n = 58, 0.13%) and controls (n = 5484, 0.12%), with no increased risk: overall HR = 1.06 (95% CI 0.82-1.37), seropositive HR = 1.00 (0.67-1.48), and seronegative HR = 1.12 (0.79-1.57). Complementary analyses adjusting for parental psychiatric history, autoimmune conditions, and socioeconomic factors yielded consistent null findings (HR = 1.34, 95% CI 0.97-1.84). Sensitivity analyses, including accelerated failure time models and alternative RA subtype definitions, confirmed these results. This large-scale population study does not suggest an increased RA risk in individuals with ASD. Despite suggested immune dysfunction in ASD and shared genetic pathways with autoimmune conditions, we did not observe evidence that ASD is associated with elevated RA risk during adulthood; In conclusion, these findings inform understanding of autoimmune comorbidity patterns in autism and may guide evidence-based clinical monitoring for autistic adults. Do autistic adults have a higher risk of rheumatoid arthritis (RA)? RA is a chronic autoimmune disease that causes joint pain, swelling, and stiffness and can lead to long‐term disability if untreated. To explore this question, researchers used Swedish national health data; researchers followed nearly 50,000 autistic people and over 4.6 million non‐autistic people for up to 30 years, comparing who developed RA in each group. RA is a severe autoimmune condition that causes joint pain, swelling, and stiffness. Results were reassuring—autistic adults were not more likely to develop RA than non‐autistic adults. Rates were very similar in both groups. These findings suggest RA is not a particular concern linked to autism and can guide practical health monitoring and care planning for autistic adults and their families. eng.