1. Allan NP, Torres A, Corley MJ, Yamamoto BY, Balaan C, Yamauchi Y, Peres R, Qin Y, Khadka VS, Deng Y, Ward MA, Maunakea AK. Pre-Conception Maternal Obesity Confers Autism Spectrum Disorder-like Behaviors in Mice Offspring Through Neuroepigenetic Dysregulation. Cells. 2025; 14(15).

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with early-life origins. Maternal obesity has been associated with increased ASD risk, yet the mechanisms and timing of susceptibility remain unclear. Using a mouse model combining in vitro fertilization (IVF) and embryo transfer, we separated the effects of pre-conception and gestational obesity. We found that maternal high fat diet (HFD) exposure prior to conception alone was sufficient to induce ASD-like behaviors in male offspring-including altered vocalizations, reduced sociability, and increased repetitive grooming-without anxiety-related changes. These phenotypes were absent in female offspring and those exposed only during gestation. Cortical transcriptome analysis revealed dysregulation and isoform shifts in genes implicated in ASD, including Homer1 and Zswim6. Whole-genome bisulfite sequencing of hippocampal tissue showed hypomethylation of an alternative Homer1 promoter, correlating with increased expression of the short isoform Homer1a, which is known to disrupt synaptic scaffolding. This pattern was specific to mice with ASD-like behaviors. Our findings show that pre-conceptional maternal obesity can lead to lasting, isoform-specific transcriptomic and epigenetic changes in the offspring’s brain. These results underscore the importance of maternal health before pregnancy as a critical and modifiable factor in ASD risk.

Lien vers le texte intégral (Open Access ou abonnement)

2. Antonyan L, Shaheen SM, Burton C, Gehring W, Soreni N, Falzarano Szura P, Bellamy J, Rajan U, Rosenberg D, Hanna G, Arnold P. Polygenic Risk Scores for Pediatric Obsessive-Compulsive Symptoms and their Mediating Effect in Clinically Diagnosed Samples of Obsessive-Compulsive Disorder, Attention-Deficit/Hyperactivity Disorder, Anxiety, Depression, Autism and Tourette syndrome. Res Sq. 2025.

Here, we present the first genome-wide association study of obsessive-compulsive symptoms in a sample of clinically diagnosed pediatric participants and healthy controls. Using a psychiatric questionnaire score as a quantitative trait we conducted a large-scale genetic analysis and ran multiple post-association analyses to investigate the mediating role of obsessive-compulsive symptoms in six comorbid neuropsychiatric disorders. Although no SNPs reached genome-wide significance, we identified suggestive associations on chromosomes 4, 5, 6, 7, 9, 17, 19, and 22. Notable genes mapped to these regions were highlighted, though none met the threshold for multiple testing correction. Further, polygenic risk scoring and Mendelian randomization analyses explored the potential mediating role and genetic disposition of obsessive-compulsive symptoms in obsessive-compulsive disorder, anxiety, attention-deficit/hyperactivity disorder, depression, autism spectrum disorders and/or Tourette syndrome. We found that genetic predisposition for OCS accounts for approximately 2% in individuals with one or more of these six disorders, with a particularly strong mediation effect observed for anxiety disorders. This study underscores the value of examining genetic risk across the symptom spectrum of mental illnesses, rather than relying solely on binary diagnostic categories.

Lien vers le texte intégral (Open Access ou abonnement)

3. Boltri M, Gabriel-Segard T, Sapuppo W, Kayser N, Dicembre M, Yeganyan A, Duquesnoy M, Leboyer M, Hanachi M. Autism Spectrum symptoms in a population of extremely undernourished patients with Anorexia Nervosa: a pilot study. J Psychiatr Res. 2025; 190: 333-40.

OBJECTIVES: Symptoms of Autism Spectrum Disorder (ASD) are overrepresented among individuals with Anorexia Nervosa (AN). We aimed to study the prevalence of ASD symptoms in extremely undernourished inpatients with AN and focus on potential cognitive and nutritional correlates. METHODS: We recruited prospectively all extremely undernourished patients with AN admitted to the Nutritional Care Unit of Paul Brousse Hospital over four months. ASD traits and AN psychopathology were assessed by administering the Autism Quotient (AQ) and the Eating Disorder Inventory-2 (EDI-2). Neuropsychological and bio-nutritional data were also collected. RESULTS: Among 33 participants aged 25.5 ± 9.3 (91 % females, BMI: 12.1 ± 1.4), 12 % scored above the clinical cut-off on the AQ. Independently of age and BMI, EDI-2 scores were significantly correlated with AQ-total scores (r = 0.62; p < 0.01), higher levels of cognitive rigidity (r = 0.61; p < 0.001) and sensory sensitivity alterations (r = 0.69; p < 0.01). In the cross-sectional model, the AQ-communication domain, and the GSQ-hyposensitivity scale were significant predictors (p < 0.5) of the variance in EDI-2 scores. Negative beliefs and cognitive confidence were associated with lower levels of Transthyretin (p < 0.02). CONCLUSIONS: ASD traits presented high prevalence in extremely undernourished patients with AN. Despite the impact that malnutrition can have on cognitive functioning, most of these traits appear to be independent of BMI but associated with the severity of eating psychopathology; only Transthyretin was associated with dysfunctional metacognitions. These preliminary results suggest that ASD symptoms might co-occur in severe AN and require specific therapeutic interventions.

Lien vers le texte intégral (Open Access ou abonnement)

4. Cai J, Zeng X, Li J. Classification of Autism Spectrum Disorder Using Edge-Weight Enhanced Graph Attention Network With Multiple Features of Resting-State fNIRS Signals. J Biophotonics. 2025: e202500138.

Functional near-infrared spectroscopy (fNIRS), as a noninvasive brain imaging modality, has shown great potential for autism spectrum disorder (ASD) identification combined with machine learning. In this work, we proposed an ASD identification method using edge-weight enhanced graph attention network (EWE-GAT) with multiple features in resting-state fNIRS signals measured from the bilateral temporal lobes on 22 typically developing (TD) children and 25 children with ASD. Seven features were selected for the EWE-GAT model, including five node features: the coupling between oxygenated hemoglobin (HbO) and deoxygenated hemoglobin (Hb) fluctuations, sample entropy for HbO and Hb, and average resting-state functional connectivity (RSFC) for HbO and Hb of each channel, and two edge features: RSFC between each channel pair for both HbO and Hb. With the proposed method, high accurate classification was achieved with 97.92% accuracy, 100% sensitivity, 96.43% precision, and 98.08% F1 score, outperforming usually used traditional machine learning and convolutional neural network models.

Lien vers le texte intégral (Open Access ou abonnement)

5. Cao X, Jia J, Li Z, Guo S, Duan J, Ma J, Yuan XB, Pan YH. Cadherin 11 regulates presynaptic vesicle trafficking and neuronal activity in autism-related brain circuit. Mol Psychiatry. 2025.

The molecular etiology of numerous risk genes for autism spectrum disorder (ASD), including Cadherin 11 (CDH11), remains elusive. We investigated the role of CDH11 in the development of ASD-related behaviors using gene-deficient mice. CDH11 is enriched at synapses in glutamatergic neurons of the anterior cingulate cortex (ACC), which project to the dorsal striatum, nucleus accumbens, and the basolateral amygdala. Developmental ablation of Cdh11 in these neurons led to increased self-grooming, reduced sociability, and decreased neuronal activity in the ACC. Chemogenetic inhibition of ACC glutamatergic neurons recapitulates the over-grooming phenotype, while activation of these neurons mitigates self-grooming in Cdh11-deficient mice. Moreover, targeted expression of CDH11 in the ACC of these mice significantly attenuated their over-grooming behaviors. Proteomics of ACC synaptosomes and CDH11 interactomes revealed that CDH11 participates in synaptic vesicle trafficking, as evidenced by a reduction in presynaptic vesicle density at excitatory synapses in Cdh11-deficient mice. These findings highlight an important role of CDH11 in the development of ASD-related brain circuits and provide insights into the molecular basis of repetitive behaviors in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

6. Cartagena C, Alshawsh M, Bui MQ, Gamage D, Thakor RP, Pitt J, Greaves RF, Wall M, Saffery R, Amor DJ, Godler DE. High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems. Epigenomics. 2025; 17(13): 851-63.

AIM: This study compared methylation-specific quantitative melt analysis of FMR1 and SNRPN methylation (mDNA) using automated bisulfite conversion by the magnetic-bead-based IsoPure and column-based QIAcube HT systems. METHODS: Two bisulfite conversion methods were assessed on 3.2 mm punches from the same archival blood spots stored at room temperature for >10 years of individuals with FMR1 premutation (n = 20), fragile X syndrome (FXS, n = 20), or chromosome 15 imprinting disorders (n = 50) and freshly made blood spots from 184 newborns from the general population. Performance criteria were: (i) diagnostic sensitivity and specificity for the conditions screened; (ii) reaction failure rate; (iii) variability in mDNA between groups. RESULTS: Both methods showed 100% sensitivity and specificity for differentiating FXS and individual chromosome 15 imprinting disorders. IsoPure showed reaction failure rates of 0.365% for SNRPN and 0.74% for FMR1 compared to 19.34% and 2.56%, for QIAcube HT, respectively, with most failed reactions originating from archival blood spots. IsoPure showed lower variability in mDNA values in the neurotypical and condition-specific ranges. CONCLUSION: The IsoPure system showed superior performance especially on archival samples, with broader applications for screening and diagnostic testing requiring high-throughput mDNA analyses on materials of limited quantity and quality. Testing for a change to DNA known as methylation has been used by researchers and in medical practice to identify people affected with different diseases. We compared how well two procedures that employ robotics, work in a lab. We tested a small amount of blood soaked onto absorbent cards to detect this change. Blood on these cards was from people who either had fragile X syndrome or a chromosome 15 imprinting disorder or did not have these. Both procedures worked equally well on freshly made materials in identifying these conditions without making any mistakes. One of the procedures, however, worked better, on cards not recently made. These results provide new opportunities for automated testing of DNA to detect diseases. eng.

Lien vers le texte intégral (Open Access ou abonnement)

7. Castillo M, Gaines AG, Moore CM, Pan CX. State Decision-Making Approaches in Seriously Ill People with Intellectual/Developmental Disability. J Pain Symptom Manage. 2025.

Hospice and palliative care (HAPC) clinicians supporting individuals with intellectual and developmental disabilities (IDD) navigate complex decision-making pathways while promoting autonomy and dignity. Approximately 1-3% of the global population lives with IDD, and many healthcare professionals feel ill-prepared to meet their unique needs, particularly in serious illness planning. Advance care planning (ACP) for this population is complicated by historical discrimination, ongoing inequities, and inconsistent legal frameworks. Supported decision-making offers a rights-based alternative to surrogate decision-making, preserving individuals’ autonomy. This manuscript presents the case of Mr. A, an adult with Down syndrome, to illustrate practical ACP and supported decision-making considerations across Maryland, New York, and Pennsylvania. Each state’s legal requirements for appointing a healthcare agent (HCA), determining capacity, and avoiding guardianship are discussed. Through thoughtful ACP and supported decision-making, HAPC clinicians can promote appropriate autonomy for individuals with IDD, fostering inclusive serious illness discussions and ethical practices across diverse legal landscapes.

Lien vers le texte intégral (Open Access ou abonnement)

8. Darrell M, Vanneau T, Cregin D, Lecaj T, Foxe JJ, Molholm S. Testing the auditory steady-state response (ASSR) to 40-Hz and 27-Hz click trains in children with autism spectrum disorder and their first-degree biological relatives: A high-density electroencephalographic (EEG) study. bioRxiv. 2025.

MOTIVATION: Altered auditory processing likely contributes to core social and attentional impairments in autism spectrum disorder (ASD). The auditory steady-state response (ASSR)- a neural measure of auditory processing and cortical excitatory-inhibitory balance-has yielded mixed results in ASD. This study uses high density electroencephalography (EEG) to evaluate ASSR in ASD and unaffected siblings to clarify neural mechanisms underlying auditory deficits in autism. METHODS: High-density 70-channel EEG was recorded in children (8-12 years, IQ >80) with ASD (n=53), typically developing (TD) peers (n=35), and unaffected biological siblings (n=26) during 500-ms binaural click trains (27- and 40-Hz) in an active oddball task. RESULTS: No group differences were observed in frequency-following responses (FFR) to 27- or 40-Hz stimuli, although higher 40-Hz power was associated with older age and better behavioral performance in ASD. The broad-band response from 180-250 ms was reduced in ASD for both stimulation frequencies-particularly in the low-frequency (<8 Hz) range-and significantly correlated with IQ and age. Siblings showed intermediate broad-band responses. DISCUSSION: While FFRs appeared intact in ASD, we observed reduced broad-band response in the transition period to the steady state FFR, which was specific to low (<8-Hz) frequencies-potentially reflecting reduced synchronization at timescales that correspond with slower, syllabic rhythms (~4-8 Hz) occurring in natural speech. Intermediate responses in first-degree relatives suggest that this is related to genetic vulnerability for ASD and highlights its clinical relevance. These findings suggest intact sensory processing in ASD alongside possible top-down auditory feedback deficits, which may serve as heritable neurophysiological markers.

Lien vers le texte intégral (Open Access ou abonnement)

9. Eldawansy M, El Bakry H, S MS. Data Mining-Based Model for Computer-Aided Diagnosis of Autism and Gelotophobia: Mixed Methods Deep Learning Approach. JMIR Form Res. 2025; 9: e72115.

BACKGROUND: Gelotophobia, the fear of being laughed at, is a social anxiety condition that affects approximately 6% of neurotypical individuals and up to 45% of those with autism spectrum disorder (ASD). This comorbidity can significantly impair the quality of life, particularly in adolescents with high-functioning ASD, where the prevalence reaches 41.98%. Accurate and automated detection tools could enhance early diagnosis and intervention. OBJECTIVE: This study aimed to develop a deep learning-based diagnostic system that integrates facial emotion recognition with validated questionnaires to detect gelotophobia in individuals with or without ASD. METHODS: The system was trained to identify ASD status using a balanced dataset of 2932 facial images (n=1466; 50% from individuals with ASD and n=1466; 50% from neurotypical individuals). The images were processed using the DeepFace library to extract facial features, which were then used as input for the deep learning classifier. After identifying ASD status, the same images were further analyzed using the pretrained DeepFace model to evaluate facial expressions for signs of gelotophobia. In cases where facial cues were ambiguous, the GELOPH<15> questionnaire, consisting of 15 items, was administered to confirm the diagnosis The system was fully implemented using the Python programming language. Deep learning models were developed using libraries such as PyTorch for training the multilayer perceptron classifier, while CUDA was used to accelerate computations on compatible graphics processing units. Additional libraries from the Python programming language, such as scikit-learn, NumPy, and Pandas, were used for preprocessing, model evaluation, and data manipulation. DeepFace was integrated using its Python application programming interface for facial recognition and emotion classification. RESULTS: The dataset comprised 2932 facial images collected from platforms such as Kaggle and ASD-related websites, including 1466 (50%) images of children with ASD and 1466 (50%) images of neurotypical children. The dataset was split into 2653 (90.48%) training samples and 279 (9.51%) testing samples, with each image contributing 100,352 extracted features. We applied various machine learning models for ASD identification. The system achieved an overall prediction accuracy of 92% across both training and testing datasets, with the multilayer perceptron model demonstrating the highest testing accuracy. The system successfully classified gelotophobia in cases where facial expressions were clear. However, in cases of ambiguous facial cues, the DeepFace model alone was insufficient. Incorporating the GELOPH<15> questionnaire improved diagnostic reliability and consistency. CONCLUSIONS: This study demonstrates the effectiveness of combining deep learning techniques with validated diagnostic tools for detecting gelotophobia, particularly in individuals with ASD. The high accuracy achieved highlights the system’s potential for clinical and research applications, contributing to the improved understanding and management of gelotophobia among groups considered socially vulnerable. Future research could expand the system’s applications to broader psychological assessments.

Lien vers le texte intégral (Open Access ou abonnement)

10. Erarkadaş M, Özmeral Erarkadaş K, Şişmanlar Ş G. Autism Spectrum Disorder Beyond Childhood: A Comprehensive Assessment of Activities of Daily Living and Social Functioning in Turkish Adults. J Autism Dev Disord. 2025.

This study aims to evaluate the levels of independence and social functioning in adulthood among individuals diagnosed with Autism Spectrum Disorder (ASD) during childhood, and to investigate the predictive factors associated with these outcomes. Behavioral problems were evaluated using the Aberrant Behavior Checklist, activities of daily living were assessed using the Lawton Instrumental Activities of Daily Living Scale (IADL), and social functioning was measured with the Social Functioning Scale (SFS). Among 87 participants, only 4.6% (n = 4) were living alone, independently. Individuals with delayed motor milestones, who were illiterate, had lower intellectual levels, or had comorbid psychiatric disorders, showed significantly lower scores on the IADL and SFS. More than half of the participants were dependent in activities of daily living. Increased age, fewer siblings, being born earlier among siblings, earlier sentence formation, earlier acquisition of reading and writing skills, lower severity of autism symptoms, and fewer behavioral problems were associated with higher score in the SFS and IADL. Predictors of independence in activities of daily living included CARS score (severity of autism symptoms), intellectual level, SFS total score, and age at first sentence formation. Predictors of social functioning included CARS score, IADL total score, and age of literacy acquisition. We believe that our article, which, unlike many studies in the literature, includes individuals with varying autism severity and intellectual levels and evaluates the activities of daily living and social functioning in adults, utilizes validated psychometric tests, will contribute greatly to the literature.

Lien vers le texte intégral (Open Access ou abonnement)

11. Espinosa Mendoza TA, Oviedo Lara AR, Henk Jordan G, Sampieri-Cabrera R, Perez Martinez LE. Correction: Effects of Low-Intensity Transcranial Magnetic Stimulation in Neuropsychological Development of Pediatric Subjects With Autism Spectrum Disorder: A Longitudinal Retrospective Approach. Cureus. 2025; 17(8): c241.

[This corrects the article DOI: 10.7759/cureus.76569.].

Lien vers le texte intégral (Open Access ou abonnement)

12. Freeman R, Jeffrey-Pearsall J, Dunphy D, Simacek J, Danov S, MacSuga-Gage A, Moore M. Implementation Drivers for Organization-Wide Positive Behavior Support: Supporting People With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2025; 63(4): 344-57.

Organization-wide positive behavior support (OW-PBS) is a framework for improving quality of life and preventing challenging behaviors for children and adults with intellectual and developmental disabilities (IDD). This tiered PBS framework has been adapted from schools for use in disability services. Supporting people with IDD involves a variety of services (family and home, independent living skills, supported employment, and day programs) and requires a values-based approach. Although the process of translating PBS from education to disability service organizations requires adaptations to the technical assistance tools and resources, the foundational implementation science drivers-and challenges-are analogous. In this article, the mechanisms for adapting the PBS framework into disability service organizations is discussed, with considerations for ensuring person-centered, culturally inclusive and responsive practices.

Lien vers le texte intégral (Open Access ou abonnement)

13. Gagnon D, Ostrolenk A, Mottron L. Early manifestations of unexpected bilingualism in minimally verbal autism. J Child Psychol Psychiatry. 2025.

BACKGROUND: Unexpected bilingualism (UB) in autism, in which children speak languages not spoken in their social environment, has been sporadically reported. UB implies that autistic children can acquire languages in a non-socially interactive way. The early minimally verbal period in autism could be critical for non-interactive language acquisition, given the predominance of non-social interests at that time. However, evidence of language acquisition outside social interaction during this period remains limited and restricted to small case studies. METHODS: Caregivers of 119 autistic, 102 non-autistic clinical, and 75 typically developing (TD) children aged 2-6 years completed a structured questionnaire about their children’s language-related interests and use. They were also asked to estimate the relative proportion of each language their children were exposed to in their social environment. UB was operationalized as the use of at least one language not spoken in the child’s social environment to name letters and/or numbers. RESULTS: Of the autistic group, 53% were considered minimally verbal. A total of 38.7% of autistic children displayed UB, with autistic children being 4.38 times more likely to show UB than TD children (p < .001). In contrast, the non-autistic clinical children did not differ significantly from TD children. The presence of UB was not associated with the children's expressive language level. Autistic children were 8.28 times more likely than TD children to use a non-dominant language (here English) (p < .001), after controlling for their proportion of social exposure to that language. Non-interactive media were the only sources caregivers reported to explain the presence of UB in autistic children. CONCLUSIONS: Autistic children, even those who are minimally verbal, are less dependent on their social environment for specific aspects of language development. Non-interactive pathways of language acquisition may have a prominent role in early language development in autism.

Lien vers le texte intégral (Open Access ou abonnement)

14. Gundeslioglu H, Gray KM, Thompson PA, Langdon PE. Mental Health Problems Among UK Undergraduates: A Comparison Study of Autistic and Non-autistic Students. J Autism Dev Disord. 2025.

The aim of this study was to examine whether the relationship between a set of risk and protective factors (e.g., self-esteem, stress, intolerance of uncertainty, autistic symptoms) and mental health problems differed between autistic and non-autistic undergraduates enrolled in UK universities across genders. Autistic and non-autistic undergraduates were invited to complete an online survey between November 2022 and June 2023. The sample included 226 autistic participants, mean age = 21.36, SD = 4.04, and 46.9%, and 521 non-autistic participants, mean age = 21.96, SD = 4.24, and 63.3%. Two-way ANOVA followed by post-hoc comparisons were used to examine gender differences in mental health problems and multiple regression models were used to identify the predictors of mental health problems among autistic participants in comparison to non-autistic participants. A higher number of autistic undergraduates self-reported having mental health diagnoses than non-autistic undergraduates. Autistic females and autistic and non-autistic individuals of genders other than male or female had increased suicidality-defined to include both suicidal ideation and behaviours – relative to some groups. There were no gender differences in anxiety and worry, and in behavioural symptoms of depression and anxiety. Moreover, for both autistic and non-autistic participants, intolerance of uncertainty was associated with higher levels of anxiety and worry, whereas resilience was associated with lower levels of suicidality and behavioural symptoms of depression and anxiety. While autistic undergraduates self-reported more mental health disorders, there were more similarities than differences between autistic and non-autistic undergraduate students in terms of mental health risk and protective factors.

Lien vers le texte intégral (Open Access ou abonnement)

15. Huang Z, Wei A, Yuan H, Huang S, Chen X, Han Y, Li X. Gut microbiota and urine metabolomics signature in autism spectrum disorder children from Southern China. BMC Pediatr. 2025; 25(1): 621.

BACKGROUND AND AIM: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that may have long-term effects on individual development, family functioning, and social integration. This study aimed to determine the gut microbiota and urine metabolomics signature and identify the regional characteristics in ASD from Southern China. METHODS: We conducted a cohort study of 88 well-characterized participants from Guangxi Zhuang Autonomous Region in Southern China. Gut microbiota and urine metabolomics signature was explored by 16 S rRNA sequences and untargeted metabolomic profiles respectively. RESULTS: The gut microbial α-diversity of ASD were significantly lower than healthy controls. The β-diversity analysis indicated that the community structure in ASD group was obviously distinctive. Significant microbiota enriched in 5 sensitive species, Faecalibacterium prausnitzii, Bifidobacterium catenulatum, Blautia obeum, Lachnoclostridium sp., and Blautia sp. in ASD children. In addition, functional analysis of the gut microbiota revealed that the ATP-binding cassette and ABC-2 type transport system ATP-binding protein were closely associated with ASD. Notably, microbiota showing a positive correlation with Androstenedione, Stearamide, Oleamide, Cadaverine, Hexadecanamide, Orotic acid, Linoleic acid, Palmitoleic acid, Lauric acid, suggesting a potential association with the Arginine and proline metabolism pathway. CONCLUSION: This study found lower α-diversity, unique β-diversity, enriched species, and positive correlations between microbiota and Arginine/Proline metabolis, which demonstrated typical signature of microbiota and metabolites discriminated Zhuang ethnic group ASD children of regional characteristics.

Lien vers le texte intégral (Open Access ou abonnement)

16. Iwanaga K, Wehman P, Schall C, Avellone L, Chan F, Inge K, McDonough J. Factors Affecting Employment for Early Adults With Intellectual and Developmental Disabilities: Influence of Supported Employment. Intellect Dev Disabil. 2025; 63(4): 286-98.

Public policy directives have emphasized Competitive Integrated Employment (CIE) as the primary employment outcome for individuals with intellectual and developmental disabilities (IDD), yet their overall employment rates remain low. Supported Employment (SE) offers evidence-based vocational rehabilitation with personalized workplace support for CIE success. This study aims to predict CIE outcomes for youth and young adults with IDD by evaluating demographics, SE, and adjunctive state vocational rehabilitation agency (SVRA) services. Analyzing data from 67,884 individuals using hierarchical logistic regression, we found SE significantly associated with CIE success. Adjunctive SVRA services, including workplace support, job placement, and job search assistance, also played crucial roles. These findings emphasize SE’s efficacy in helping youth and young adults with IDD achieve CIE, guiding vocational professionals.

Lien vers le texte intégral (Open Access ou abonnement)

17. Josol CK, Fisher MH, Cho E. Exploring the Relationship Between Empathy and Social Skills for Individuals with Different Forms of Intellectual and Developmental Disabilities. J Autism Dev Disord. 2025.

For individuals with intellectual and developmental disabilities (IDD), the understanding and expression of empathy and its various components can be challenging. However, different etiologies can elucidate various strengths and weaknesses related to empathy. The present study examined the specific relationship of empathy and social skills for individuals with autism (AD), Williams syndrome (WS), Down syndrome (DS), and a non-disabled (ND) control group. The research questions for the current study were (a) Do caregiver ratings of empathy and social skills differ across individuals with AD, WS, DS, and ND?; and (b) Are there differences in the relationship between empathy skills and social skills within and across groups? The total sample (N = 120) included caregivers of 30 individuals diagnosed with AD (mean age = 10.73 years), 30 individuals diagnosed with WS (mean age = 12.07 years), 30 individuals with DS (mean age = 11.53 years), and 30 ND individuals (mean age = 10.90 years). Caregivers were asked to complete the children’s version of the Empathy Quotient and the Social Responsiveness Scale (2nd Edition). According to caregiver reports, AD individuals present with lower empathy skills compared to WS, DS, and ND individuals. Differences between groups were also demonstrated regarding the relationship between empathy and social skills. More specifically, for WS individuals, lower empathy skills were not significantly correlated with social motivation. The results highlight that differences in empathy and social skills should be accounted for in empathy-related interventions and underscores the importance of developing etiology-specific interventions.

Lien vers le texte intégral (Open Access ou abonnement)

18. Kabakov SA, Surgent OJ, Skaletski EC, Sideris J, Ausderau KK, Travers BG. Application of Sensory Subtypes: Understanding Core Autism Features, Adaptive Behaviors, and Motor Skills in Autistic Children. J Autism Dev Disord. 2025.

Sensory processing differences are prevalent among autistic children impacting their participation in daily activities. Sensory subtypes provide a useful approach to understand these differences, as sensory response patterns often co-occur. The purpose of this paper is to apply existing sensory subtype methodology to examine the four sensory subtypes’ association with child outcome measures. Autistic children (n = 118) ages 6-18 years old were grouped into four sensory subtypes of mild, sensitive-distressed, attenuated-preoccupied, and extreme-mixed. This study examined associations among the four sensory subtypes and motor skills, core autism features, and adaptive behaviors. Most children were categorized into the mild (n = 53) and sensitive-distressed (n = 45) subtype with very few children falling in the attenuated-preoccupied (n = 9) and extreme-mixed subtype (n = 11). The four subtypes had group differences identified for motor skills, core autism features, and adaptive behaviors. The mild and attenuated-preoccupied had higher motor skills compared to the sensitive-distressed and extreme-mixed subtype. The extreme-mixed subtype had more core autism features, and lower adaptive behavior compared to the mild subtype. Sensory subtypes exhibit differential associations to child outcome measures for autistic children ages 6-18 years old. Understanding these relationships may provide an opportunity for earlier, targeted interventions to address the role sensory differences play in daily activities.

Lien vers le texte intégral (Open Access ou abonnement)

19. Kaganoi S, Sawada K, Sota S, Nagano S, Takahashi H, Kazui H. Impairments in the sense of self in children with autism spectrum disorder. Psychiatry Res. 2025; 352: 116668.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition involving social-communication difficulties and restricted, repetitive behaviors. Beyond these features, children with ASD often experience atypical sensory processing and motor coordination challenges. These sensorimotor differences may disrupt the embodied sense of self-the experience of agency, ownership, and narrative identity. Few studies have examined how these factors interact in children. Clarifying this relationship may inform interventions aimed at improving self-awareness and daily functioning. METHODS: We assessed 22 children with ASD and 25 typically developing (TD) children using three measures: the Embodied Sense of Self Scale (ESSS), evaluating Agency, Ownership, and Narrative Self; the Sensory Profile (SP), assessing sensory processing patterns; and a visually guided reaching task measuring motor accuracy with and without visual feedback. Group differences and correlations among these measures were analyzed to explore associations between sensory, motor, and self-related functions. RESULTS: Children with ASD scored significantly higher on all ESSS subscales, indicating greater difficulties in embodied self-awareness. They also showed elevated SP scores and greater reaching errors in the absence of visual feedback. In TD children, ESSS subscales showed large intercorrelations (r > 0.55), suggesting integrated self-awareness. In contrast, children with ASD showed only one large correlation between Ownership and Narrative Self (r = 0.57), indicating a fragmented self-concept. CONCLUSIONS: Children with ASD exhibit distinct patterns of sensorimotor processing and self-representation compared to TD peers. Interventions that target sensory modulation and self-integration may improve outcomes. Further research is needed to validate child-appropriate self-awareness measures and examine developmental changes over time.

Lien vers le texte intégral (Open Access ou abonnement)

20. Kurihara Y, Kosaka H, Schuster BA, Kitada R, Kochiyama T, Okazawa H, Osu R, Okamoto Y. Visual body part representation of the lateral occipitotemporal cortex in individuals with autism spectrum disorder: A univariate and multivariate fMRI study. Imaging Neurosci (Camb). 2025; 3.

The lateral occipitotemporal cortex (LOTC) is a part of the brain network thatprocesses human body recognition. It has been implicated in variousneurodevelopmental conditions, including autism spectrum disorder (ASD). Intypically developing (TD) individuals, functional magnetic resonance imaging(fMRI) studies have shown three distinct response patterns to three categoriesof body parts in the LOTC, namely, action effector body parts, non-effector bodyparts, and facial parts. It is currently unclear whether the similar topologicalorganization of the LOTC is observed in individuals with ASD, and if socialinteraction difficulties in this group may partially result from differences inbody part recognition in this area. In this fMRI study, adults with ASD and TDadults viewed photographs of hands, feet, arms, legs, chests, waists,upper/lower faces, whole bodies, and chairs. Mass univariate analysis showed nodifferences in the LOTC response to whole-body images (relative to images ofchairs) in the bilateral LOTC between adults with ASD and TD adults. Inaddition, there were no group differences in the responses to body parts.Furthermore, multivariate (representational similarity) analyses revealed asignificant similar body part representation organized into three clusters(limbs, torsos, and faces) in the bilateral LOTC between TD adults and thosewith ASD. These results indicate that TD adults and those with ASD havecomparable neural representations within the LOTC for whole bodies and bodyparts.

Lien vers le texte intégral (Open Access ou abonnement)

21. Lineberry S, Broda MD, Dinora P, Bogenschutz M, Prohn S, West A. Evaluating Measurement Invariance Over Time for a Personal Opportunities Scale for People With IDD: Implications for Policy and Practice. Intellect Dev Disabil. 2025; 63(4): 315-28.

Personal opportunities refer to chances for people with intellectual and developmental disabilities (IDD) to take self-directed action based on their interests, strengths, and preferences. This study tested for measurement invariance across five years of cross-sectional data, including data collected during the COVID-19 pandemic, to determine whether the scale performed consistently over time. Analysis revealed significant differences in both the National Core Indicators In-Person Survey (NCI-IPS) outcomes and in the Personal Opportunities scale. Measurement invariance testing indicated partial threshold and loading invariance, but not intercept invariance, suggesting that the ways in which participants perceived or responded to scale items changed over time. We recommend that researchers utilizing scaled measures with longitudinal outcomes employ statistical checks, including measurement invariance, to ensure the scale performs consistently over time.

Lien vers le texte intégral (Open Access ou abonnement)

22. Lopes LPN, Raimundo ACS, Itria A, Caetano R, Lopes LC. Recalculation of the budgetary impact of risperidone use for Autism Spectrum Disorder: a case study using measured demand data, Brazil, 2017-2019. Epidemiol Serv Saude. 2025; 34: e20240732.

OBJECTIVE: To analyze the budgetary impact of use of risperidone for autism spectrum disorder (ASD) in the Brazilian National Health System (SUS). METHODS: This is a case study with a document-based approach, which compared the estimates of the budgetary impact analyses presented in the recommendation reports of the National Commission for the Incorporation of Technologies (CONITEC) for the use of risperidone for ASD with amounts recalculated from measured demand data. The recalculation for children (0-17 years) and adults (≥18 years) was made using data from the Open Health Intelligence Room platform on the dispensing of risperidone in the SUS, considering a three-year time period (2017-2019). RESULTS: The total budgetary impact over three years of use of risperidone for ASD showed differences between measured demand (children: BRL 10,389,702.70; adults: BRL 15,075,767.80) and that estimated by CONITEC in its recommendation reports (children: R$ 6,579,809.00; adults: R$ 9,877,790.18). CONCLUSION: The budgetary impact of use of risperidone for ASD, based on measured demand, differed from the impact initially predicted in CONITEC’s recommendation reports.

Lien vers le texte intégral (Open Access ou abonnement)

23. Marroquín JM, Lechuga-Peña S, Oh H, Marsiglia FF. Advancing Health Equity for Latinx Autistic Adults in the United States through an Intersectionality Lens. Soc Work. 2025.

The health of autistic adults has become increasingly researched, but subgroups with intersectional identities like Latinx autistic adults remain largely understudied. In this article authors examine the health disparities U.S. Latinx autistic adults may experience throughout their lifespan and apply a combined theoretical framework-the ecological systems theory, critical race theory (CRT), and intersectionality-to a study of Latinx autistic young adults. CRT conceptualizes how race, along with the intersectional identity of disability, interact in the socioecological systems of the United States. Together these theories guide the examination of the dynamic interactions impacting the health of Latinx autistic individuals. The proposed integrated theoretical framework supports practitioners’ abilities to be culturally humble and responsive to Latinx autistic adults’ health experiences. Practitioners engaging with Latinx autistic communities, and specifically social work researchers, practitioners, and educators, can gain awareness of how individuals’ social context and positionality contribute to people’s experiences of health, discrimination, and wellness in their day-to-day lives. This article provides practical examples and recommendations for implementation. Although this article centers on the intersections of Latinx racial identity and autism disability, the proposed theoretical framework can be useful in identifying and addressing health disparities among other marginalized communities.

Lien vers le texte intégral (Open Access ou abonnement)

24. Mirzaian CB, Deavenport-Saman A, Hudson S, Betz CL. Intellectual and Developmental Disabilities Health Care Transition: Stakeholder Perspectives. Intellect Dev Disabil. 2025; 63(4): 299-314.

Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) and YYA with IDD and co-occurring mental health (MH) conditions experience unique challenges during the period of health care transition compared to those with other long-term conditions. This investigation explored respondents’ (N = 277) perceptions of the needs associated with the transition experience of these two groups. Community-based organization respondents were significantly more likely to indicate stigma/bias were barriers for YYA with IDD compared to advocates or providers. Advocates were more likely to indicate access to postsecondary training or education was needed for YYA with IDD and co-occurring MH conditions. Greater services or supports were needed for YYA with co-occurring MH conditions than those with IDD: employment-related, housing, transportation/mobility, financial/food security.

Lien vers le texte intégral (Open Access ou abonnement)

25. Mpofu J, Sefotho MM. Autism paradigms in a developing country setting: Results and implications of a Zimbabwean study. Afr J Disabil. 2025; 14: 1638.

BACKGROUND: Autism spectrum disorders (ASD) are an evolving concept in the neurodiversity community. There is a continuum of views ranging from biological to social models, of which the medical model views ASD as pathological rather than atypical. How people live with their diversity attributes may depend on how they understand their own diversity attribute. OBJECTIVES: This study explored self-perceptions of young people with mild-to-moderate ASD within their cultural context. METHOD: Participants included an equal number of males and females with mild-to-moderate ASD (five each). They participated in two focus group discussions on self-perceptions of life situations in young people with ASD and whether they are considered as neurodiversity or pathology paradigms. Data analysis was done using the thematic content analysis approach. RESULTS: Participants viewed ASD as: (1) a human neurological variation, (2) were not disordered, (3) had sense of friendship and belonging, and (4) had natural and normal social emotional development. CONCLUSION: Young people with ASD perceive ASD from a neurodiversity approach. A neurodiversity approach to ASD is primarily a social justice movement aiming to end what proponents see as the default pathologisation of neurodivergence and promoting the acceptance and accommodation of human neurodiversity. CONTRIBUTION: This study enhances understanding of self-perceptions among young people with ASD in Zimbabwe, revealing challenges and strengths unique to their experiences. It may inform educators and policymakers, promoting inclusive practices and tailored interventions, ultimately fostering empowerment, acceptance, and improved quality of life for young people within this community.

Lien vers le texte intégral (Open Access ou abonnement)

26. Peterson T, Dodson J, Burgin S, Sherwin R, Strale F, Jr. Correction: Impacts of Hyperbaric Oxygen Therapy (HBOT) on Verbal Scores in Children With Autism: A Secondary Analysis of the HBOT Trial Using Multivariate Analysis of Variance (MANOVA). Cureus. 2025; 17(8): c245.

[This corrects the article DOI: 10.7759/cureus.69421.].

Lien vers le texte intégral (Open Access ou abonnement)

27. Peterson T, Hosey T, Mosteller J, Sherwin R, Strale F, Jr. Correction: A Descriptive Study on the Impacts of Hyperbaric Oxygen Therapy on Autistic Individuals Using Parent Testimonies. Cureus. 2025; 17(8): c247.

[This corrects the article DOI: 10.7759/cureus.55648.].

Lien vers le texte intégral (Open Access ou abonnement)

28. Peterson T, Sherwin R, Hosey T, Close N, Strale F, Jr. Correction: The Effects of Hyperbaric Oxygen Treatment on Verbal Scores in Children With Autism Spectrum Disorder: A Retrospective Trial. Cureus. 2025; 17(8): c248.

[This corrects the article DOI: 10.7759/cureus.51654.].

Lien vers le texte intégral (Open Access ou abonnement)

29. Pruitt A, Gupta AR, Hoffman EJ. Molecular and Genetic Mechanisms in Autism Spectrum Disorder. Ann Neurol. 2025.

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by deficits in social communication and interaction and the presence of repetitive and restricted behaviors. ASDs are clinically and genetically heterogeneous with hundreds of genes identified through large-scale whole exome and genome sequencing studies contributing to risk. Recent studies are beginning to illuminate shared mechanisms across ASD-associated genes at the molecular, cellular, circuit, and behavioral levels, identifying neurogenesis and excitatory-inhibitory neuron development as points of biological convergence. These functional analyses of ASD genes provide substantial promise for gaining a deeper understanding of ASD pathophysiology and elucidating novel therapeutic targets. ANN NEUROL 2025.

Lien vers le texte intégral (Open Access ou abonnement)

30. Rai S. A novel hybrid deep learning model using MEResNextfor autism spectrum disorder detection. Comput Biol Chem. 2025; 120(Pt 1): 108619.

A neurological disease, named autism spectrum disorder (ASD), is portrayed through divergence with social interaction, communication, and repetitive activities. As heredity is an important source, initial identification and treatment can diminish the need for wide examinations and expensive medical procedures for those with ASD. Prolonged effects and severity can be avoided at a timely determination of ASD. This study develops a hybrid deep-learning method for ASD detection. Pre-processing, feature selection and ASD detection are three steps involved. In thepre-processing phase, input data is passed in which noise and artefacts present in the data are removed using Yeo-Jhonson transformation. Next, by integrating Double exponential Smoothing (DES) in Elk Herd Optimizer (EHO), Double exponential Smoothing-Elk Herd Optimizer (DeSEHO),is proposed to select features. At last, the features that are selected are subjected to the ASD detection phase. In this stage, the Moments Embedding ResNeXt (MEResNeXt), which is the combination of Moments Embedding Network (MoNet) and ResNeXt, is used for ASD detection. The results of the research show that MEResNeXtperformed better in terms of traditionalmodelswhich show accuracyof95.3 %, sensitivity of 96.5 %, and specificity of 94.8 %.

Lien vers le texte intégral (Open Access ou abonnement)

31. Rogers ME, Garcia-Pradas L, Thom SA, Vazquez RA, Dallman JE. Going with the Flow: Sensorimotor Integration Along the Zebrafish GI Tract. Cells. 2025; 14(15).

Sensorimotor integration along the gastrointestinal (GI) tract is crucial for normal gut function yet remains poorly understood in the context of neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD). The genetic tractability of zebrafish allows investigators to generate molecularly defined models that provide a means of studying the functional circuits of digestion in vivo. Optical transparency during development allows for the use of optogenetics and calcium imaging to elucidate the mechanisms underlying GI-related symptoms associated with ASD. The array of commonly reported symptoms implicates altered sensorimotor integration at various points along the GI tract, from the pharynx to the anus. We will examine the reflex arcs that facilitate swallowing, nutrient-sensing, absorption, peristalsis, and evacuation. The high level of conservation of these processes across vertebrates also enables us to explore potential therapeutic avenues to mitigate GI distress in ASD and other NDDs.

Lien vers le texte intégral (Open Access ou abonnement)

32. Rudroff T. Theoretical Framework and Methodological Approach for Investigating Potential Associations Between Long COVID and Autism Spectrum Disorder Prevalence. NeuroSci. 2025; 6(3).

This perspective paper proposes a theoretical framework for investigating potential associations between Long COVID and rising autism spectrum disorder (ASD) prevalence through established epidemiological methodologies. I propose examining temporal correlations, biological mechanisms, and rigorous methodological approaches, including Mendelian randomization, animal models, and evidence-based analyses, that could distinguish association from causation. The proposed framework recognizes autism as neurodiversity while suggesting investigation of environmental factors that may influence expression of genetic predispositions. Hypothesized key mechanisms include neuroinflammation, cytokine alterations, and immune dysfunction. I emphasize the critical distinction between demonstrating statistical associations and establishing causal influence, proposing specific experimental designs that could test causality. This paper presents conceptual frameworks requiring future empirical validation and does not include original data analysis.

Lien vers le texte intégral (Open Access ou abonnement)

33. Ryszkiewicz P, Malinowska B, Jasińska-Stroschein M. Evaluating the Causal Effects of ADHD and Autism on Cardiovascular Diseases and Vice Versa: A Systematic Review and Meta-Analysis of Mendelian Randomization Studies. Cells. 2025; 14(15).

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevelopmental disorders with lifelong functional implications. Their potential role as emerging risk factors for cardiovascular diseases (CVDs) is increasingly acknowledged. The aim of this study was to conduct a comprehensive evaluation and meta-analysis of Mendelian Randomization (MR) studies exploring the causal effects of ADHD and ASD on various cardiovascular outcomes and vice versa. Three databases were searched, study quality was evaluated using a STROBE-MR checklist, and relevant data were extracted. In total, 14 studies revealed genetic associations between ADHD or ASD susceptibility and selected CVDs and vice versa. Notably, genetic markers for ADHD were linked to an increased risk of coronary artery disease, heart failure, and various types of stroke. Genetic predisposition to ASD raised the likelihood of atrial fibrillation and heart failure. Atrial fibrillation showed a causal relationship with elevated ADHD risk. Interestingly, hypertension was not associated with ADHD or ASD at the genetic level. Further efforts are needed to fully elucidate the basis of causal links from a mechanistic perspective. Overall, the results highlight the need for cardiovascular risk assessment and management in the clinical care of individuals with ADHD and ASD.

Lien vers le texte intégral (Open Access ou abonnement)

34. Salomon C, Heinz K, Aronson-Ramos J, Wall DP. An analysis of the real world performance of an artificial intelligence based autism diagnostic. Sci Rep. 2025; 15(1): 29503.

Rapidly rising demand for pediatric autism evaluations has outpaced specialist capacity and created a crisis of delayed diagnoses and treatment. Streamlining the diagnostic process could reduce wait times and optimize use of limited specialist resources. Following strong clinical trial results, Canvas Dx, an AI-based diagnostic, was FDA authorized to support accurate diagnosis or rule-out of autism in children 18-72 months with caregiver or healthcare provider concern for developmental delay. To gain insight into real-world device performance, a de-identified aggregate data analysis of the initial 254 Canvas Dx prescriptions fulfilled post-market authorization was conducted to determine: accuracy of autism predictions compared to clinical reference standard diagnosis and prior clinical trial data, key real-world prescriber and patient characteristics, proportion of determinate device outputs (positive or negative for autism) and impact of decision threshold settings on device performance. In this sample of 254 children with a 54.7% autism prevalence rate (29.1% female, average age 39.99 months), Canvas Dx had a NPV of 97.6% (CI- 92.8% -100.0%) and a PPV of 92.4% (CI-87.7%-97.2%). A majority of cases (63.0%) received a determinate result. Sensitivity and specificity of determinate results were 99.1% (CI-97.3%-100.0%) and 81.6% (CI-70.8%-92.5%) respectively. The median age of children who received a positive for autism output was 37.2 months, which is more than 2 years earlier than the current median age of autism diagnosis. No performance differences were noted based on patients’ sex. Compared to clinical trial results, real world performance was equivalent for all key metrics, with the exception of the determinate rate and the PPV which were significantly improved in real world performance. Analysis of real-world Canvas Dx data highlights its feasibility and utility in supporting accurate, equitable and early diagnosis or rule out of autism. With medical coverage and broader clinical adoption, innovative solutions such as Canvas Dx can play an important role in helping to address the growing specialist waitlist crisis, ensuring that more children gain access to targeted therapies during the critical window of neurodevelopment where they have the greatest life-changing impact.

Lien vers le texte intégral (Open Access ou abonnement)

35. Selick A, Bernier SL, Bobbette N, Cardiff K, Lunsky Y. Direct support professional perspectives on the value of virtual healthcare for adults with intellectual and developmental disabilities: Trends over four years. Disabil Health J. 2025: 101961.

BACKGROUND: Direct support professionals (DSPs) often play a critical role in supporting healthcare interactions for people with intellectual and developmental disabilities (IDD) but little is known about their experience supporting virtual healthcare. OBJECTIVE: This study explored utilization of virtual care and DSP experiences of supporting virtual care at four time points in Ontario, Canada. METHODS: DSPs in Ontario were invited to participate in an online survey in 2020 (n = 867), 2021 (n = 428), 2022 (n = 698) and 2023 (n = 603). This study focuses on the subset of questions related to DSP experience supporting virtual healthcare. Descriptive statistics were used to summarize quantitative data and content analysis was used to analyze open text responses. RESULTS: Over the four surveys, reported utilization of phone-based care was consistently higher (53-60 %) than video-based care (20-30 %). DSPs were more likely to provide positive feedback for video-based care compared with phone-based care, however, there was a decline in positive feedback for both over the four surveys. Though video-based care in particular was identified as valuable for patients who struggle to attend in-person appointments, ongoing challenges were reported including technical issues and poor communication quality. CONCLUSIONS: Without the overwhelming concern of COVID transmission, for many patients, the benefits of virtual care may not outweigh the ongoing challenges. However, there appears to be a subset of people for whom virtual care can be critically important to support accessible care. DSPs require more training and resources to effectively support virtual healthcare visits.

Lien vers le texte intégral (Open Access ou abonnement)

36. Shikarpurya S, Gilson CB. SAATHI: A Pilot Transition Intervention for South Asian Parents of Children With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2025; 63(4): 271-85.

Racially minoritized parents often experience significant systemic barriers when accessing and navigating transition planning for their young adults with intellectual and developmental disabilities. Despite the benefits of transition-focused parent interventions, only a few studies have developed or adapted these interventions for racially minoritized parents. We developed a 6-week, transition-focused online parent education intervention for 31 South Asian parents, South Asians Accessing and Advocating for Transition and Higher Education Inclusion (SAATHI). We found that SAATHI increased parents’ transition knowledge, advocacy skills, and coping skills. Parents reported an increased sense of community and belonging after participating in SAATHI. Participants considered SAATHI feasible and beneficial. Implications of SAATHI for research, practice, and policy are also discussed.

Lien vers le texte intégral (Open Access ou abonnement)

37. Tsui HKH, Chan SKW, Cheung ACK, Yeung TW, Hsiao JH. Differential mask effects on emotion recognition and eye movements in Psychotic-like experiences and autism: Insights from hidden Markov Modeling. J Psychiatr Res. 2025; 190: 347-56.

BACKGROUND: Facial mask wearing may disrupt facial emotion recognition (FER). The impact of masks on FER and associated eye movement patterns among individuals with autism spectrum disorder (ASD) and those with psychotic-like experiences (PLEs) remained unclear. METHODS: 180 ethnic Chinese individuals completed the FER task with eye-tracking, including two separate samples: 37 PLEs with 53 matched controls, and 45 ASD with 45 matched controls. The eye movement data were analyzed using Eye Movement analysis with Hidden Markov Models (EMHMM). MANCOVA was used to examine the mask and group effects on the performances and eye movements of FER, while regression analyses explored associations with subclinical measures. RESULTS: Facial masks impaired FER in all subjects. Differential effects of masks from matched controls on eye movement patterns and visual scanning consistency were only observed in the PLEs. The maladaptation of accuracy and visual scanning consistency due to masks were associated with subclinical psychotic symptoms and delusional ideations respectively. ASD presented poorer accuracy, slower reaction times, and less consistent eye movements compared to controls and PLEs. Imaginative cognition was related to the maladaptation of accuracy and eye movement due to masks in ASD. Schizotypal traits showed differential associations with eye movements in PLEs and ASD. CONCLUSIONS: This study reveals maladaptation of eye movement behaviors during FER due to masks in PLEs, and distinct associations between FER with subclinical features in PLEs and ASD. It sheds light on the complex social cognitive processing and real-world social challenges faced by these populations in mask-prevalent environments.

Lien vers le texte intégral (Open Access ou abonnement)

38. Westner BU, Bosch E, Utzerath C, Buitelaar J, de Lange FP. Typical neural adaptation for familiar images in autistic adolescents. Imaging Neurosci (Camb). 2025; 3.

It has been proposed that autistic perception may be marked by a reduced influence of temporal context. Following this theory, prior exposure to a stimulus should lead to a weaker or absent alteration of the behavioral and neural response to the stimulus in autism, compared with a typical population. To examine these hypotheses, we recruited two samples of human volunteers: a student sample (N= 26), which we used to establish our analysis pipeline, and an adolescent sample (N= 36), which consisted of a group of autistic (N= 18) and a group of non-autistic (N= 18) participants. All participants were presented with visual stimulus streams consisting of novel and familiar image pairs, while they attentively monitored each stream. We recorded task performance and used magnetoencephalography (MEG) to measure neural responses, and to compare the responses with familiar and novel images. We found behavioral facilitation as well as a reduction of event-related field (ERF) amplitude for familiar, compared with novel, images in both samples. Crucially, we found statistical evidence against between-group effects of familiarity on both behavioral and neural responses in the adolescent sample, suggesting that the influence of familiarity is comparable between autistic and non-autistic adolescents. These findings challenge the notion that perception in autism is marked by a reduced influence of prior exposure.

Lien vers le texte intégral (Open Access ou abonnement)

39. Wong CM, Koh HC, Agarwal P, Daniel LM. Diagnostic patterns and predictors of cognitive outcomes in autistic children in Singapore. Ann Acad Med Singap. 2025; 54(7): 396-409.

INTRODUCTION: This study aimed to examine patterns of diagnosis, cognitive and adaptive functioning, and school placement outcomes in autistic children in Singapore, and to assess earlier predictive factors of cognitive outcomes. METHOD: Retrospective data were extracted from medical records of a specialist developmental paediatrics service for children born in 2008-2011 and referred to the autism clinic or were given a diagnosis of autism. Data items included demographic data, diagnostic methods, psychological assessment results, early intervention attendance and school placement outcomes. RESULTS: A total of 2124 children (82.6% male; 66.4% Chinese, 13.4% Malay, 9.8% Indian and 10.5% Others) were diagnosed with autism from the 4 birth-year cohorts. The mean (SD) age of the first clinical diagnosis of autism was 3.56 (1.14) years, with 81.0% of children receiving a concordant initial clinical diagnosis. A total of 1811 (85.2%) had a formal diagnostic assessment using the Autism Diagnostic Observation Schedule (ADOS) at a mean (SD) age of 4.16 (1.11) years. Of 1326 with cognitive and adaptive assessment results, 16.6% had mild and 19.8% had moderate-severe cognitive impairment. Of 1483 with school placement outcomes, 45.9% went to mainstream schools, 21.8% entered SPED schools offering the national curriculum and 32.3% required customised curriculum SPED schools. Logistic regression showed that factors predicting intellectual impairment included higher ADOS scores (aOR 95% CI 1.13 [1.08-1.19] for Comm+SI total and 1.53 [1.33-1.75] for SBRI total), higher social communication level of support (based on the DSM-5 criteria) (aOR [95% CI] 2.14 [1.10-4.16] for level 2 and 14.94 [5.77-38.64] for level 3), and minority race (aOR [95% CI] 2.82 [1.52-5.20] for Malay, 5.19 [2.36-11.44] for Indian, and 4.54 [1.91-10.79] for Others). CONCLUSION: These findings could guide policymakers and practitioners worldwide to strategically allocate diagnostic, intervention and educational resources, maximising developmental outcomes for autistic children across diverse settings.

Lien vers le texte intégral (Open Access ou abonnement)

40. Zhu FL, Ji Y, Wang L, Xu M, Zou XB. Current situation and influencing factors of Chinese children’s diagnosis delay in autism. J Neurodev Disord. 2025; 17(1): 47.

BACKGROUND: Although experienced clinicians are capable of diagnosing autism in children before they reach the age of 2, the average age of diagnosis reported internationally is between 4 and 5 years, indicating a significant delay. This study aimed to determine the factors influencing the diagnostic delay time (DDT) in Chinese autistic children. METHODS: We employed the Cox proportional hazard model to examine the effects of individual, family, sociodemographic, and healthcare system indicators on DDT in 480 Chinese autistic children (age range: 16.10-190.16 months; male-to-female ratio: 5.67:1) recruited from a tertiary hospital between 2021 and 2023. RESULTS: The median DDT was 9.58 months (IQR = 15.01). Independent risk factors for delayed diagnosis included normal language competence (RR = 1.747, p < 0.001), non-core symptoms as first concerns (RR = 1.642, p = 0.013), school attendance (RR = 1.941, p < 0.001), irregular well-child visits (RR = 1.264, p = 0.028), and misdiagnosis history (RR = 0.648, p = 0.001). CONCLUSIONS: Diagnosis delay in Chinese autistic children is heterogeneous. Early monitoring for children with normal language skills and school-aged children, alongside improved healthcare system practices, is critical.

Lien vers le texte intégral (Open Access ou abonnement)