Pubmed (TSA) du 05/03/26
1. Alhwaiti M. Working memory and processing speed as predictors of general fluid intelligence in adults with high functioning autism: A structural equation modeling approach. Appl Neuropsychol Adult. 2026: 1-7.
This study aimed to evaluate the predictive power of working memory and processing speed on general fluid intelligence (Gf) in adults with high functioning autism. One-hundred-seven participants were included in the study. They were adults diagnosed with autism spectrum disorder (ASD) according to Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) criteria. Pearson correlation and moderated hierarchical multiple regression analyses were conducted. The scanning electron microscope (SEM) was evaluated. The two independent variables (working memory capacity, processing speed) when put together yielded a coefficient of multiple regression (R) of 0.667 and a multiple correlation square of 0.641. This shows that 64.1% of the total variance in general Gf of those who participated in the study is accounted for by the combination of working memory capacity and processing speed.
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2. Barger B, Pigott TD, Sheldrick RC, Campbell J, Gonzalez Laca A, Starnes J, Davis B, Waford R, Olmstead J. Estimating the impact of missed cases on the accuracy of autism screening tools. Psychol Assess. 2026.
A common problem for assessing psychiatric screening tools is that initial diagnostic accuracy estimates are conducted on cross-sectional data and later found to be lower than expected when longitudinal analyses are conducted. This article uses prevalence estimates to identify potentially missed cases and adjust diagnostic accuracy metrics. To display this approach, we meta-analyze and assess 27 population-level autism screening studies identified via an umbrella review and contrast four population adjustments (none, national, U.S.-centric, and world prevalence). Studies with no positive screen adjustments displayed adequate sensitivity (.75), but poor sensitivity resulted when applying national (.52), world (.50), and U.S.-centric (.33) population adjustments. We also address missing positive screen cases due to the common problem of attrition (Sheldrick et al., 2023). Positive screen adjustments suggested a range of sensitivity impacts ranging from very poor (.32) to good (.89). Across analyses, positive predictive value estimates also ranged from .20 to .73 depending on population and missed case assumptions. The strengths and benefits of blending epidemiology and psychometric perspectives to identify screening tools that are weaker than expected are discussed. (PsycInfo Database Record (c) 2026 APA, all rights reserved).
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3. Berg AD, Sørløk K, Bretfeld-Wolf AK, Page AG, Storås MH, Chahboun S. The missing piece in inclusion: addressing school avoidance among children with autism. Front Psychol. 2026; 17: 1724420.
This current article examines the relationship between Autism Spectrum Disorder (ASD) and school avoidance, focusing on the theoretical and practical challenges involved. ASD, a neurodevelopmental condition, presents significant challenges in social interaction, communication, and restricted and repetitive behaviors, which can hinder educational engagement. School avoidance, characterized by elevated absenteeism and emotional distress, emerges as a critical issue for many students with ASD. By exploring historical foundations, diagnostic classification systems, and the core characteristics and challenges of ASD, this analysis highlights factors that contribute to school avoidance. The distinction between school avoidance and truancy is emphasized, underscoring the importance of tailored interventions that address sensory sensitivities, emotional wellbeing, and the need for structured and predictable environments. Practical strategies for inclusion, teacher-student relationships, school-home collaboration, and interdisciplinary cooperation are also discussed, offering a framework for creating supportive educational settings. Ultimately, this work connects theoretical insights with actionable practices to promote engagement, reduce stress, and support the development of students with ASD.
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4. Block AR, Skaletski EC, Sheedy CM, Vanderpool EA, Travers BG. Motor Performance in Autistic Youth From Childhood Through Adolescence: Evidence for Both Sustained and Widening Group Differences. Autism Res. 2026: e70211.
Although motor-skill differences in autistic individuals are well established, there is diverging evidence regarding what happens to motor skills in autistic children as they become adolescents. Using both cross-sectional and longitudinal data, we examined fine and gross motor skills and grip strength of 187 autistic participants and 136 non-autistic participants (i.e., with no known diagnoses), aged 6-18 years-old. Participants completed the Bruininks-Oseretsky Test of Motor Proficiency-Short Form, Second Edition (BOT-2 SF), and maximal grip strength testing. Linear mixed-effects regression analyses indicated motor-skill differences between autistic and non-autistic participants across this age range; however, the nature of these differences depended on the specific motor domain (i.e., strength) and measure. Specifically, grip strength and BOT-2 SF strength subtest scores showed widening group differences with increasing age, whereas overall BOT-2 SF scores and subtests showed sustained or narrowing group differences through adolescence. However, items on the BOT-2 SF also demonstrated substantial ceiling effects, which may obscure later group differences between autistic and non-autistic participants and highlight the need for measures that encompass a greater range of motor skills into adolescence. These findings have important implications for healthcare, education, and community supports that address age-related motor differences within the autistic population. We looked at how motor skills—like grip strength and overall motor ability—vary with age in autistic and non‐autistic children and teenagers (6–18 years old). We found that autistic youth had weaker grip strength and more difficulty with motor skills compared to non‐autistic peers, with the gap in strength widening in adolescence and the gap in overall motor ability remaining the same or narrowing. Our findings show that motor differences in autism persist through adolescence and that we should carefully consider how we measure motor skills in this age range, which could inform better support for autistic people with motor differences in healthcare, education, and community settings. eng.
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5. Chacon-Millan P, Delicato A, Mahmood A, Tirozzi A, Monfregola J, Duroure K, Serafini M, Kroll F, El-Hage O, Salah S, Atawneh OM, Atik T, Durmusalioglu EA, Isik E, Almontashiri NAM, Tabarki B, Kanaan M, Rabie G, Torella A, Spampanato C, Battaglia DI, Begemann A, Steindl K, Rauch A, Zweier M, Hajianpour M, Brigatti KW, Alhashem A, Maroofian R, Feigerlova E, Lambert L, Feillet F, Abbott MA, D’Alessio AM, Gonzaga-Jauregui C, Tawk M, De Matteis MA, Del Bene F, Zollino M, Nigro V, Venditti R, Franco B, Morleo M. Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking. Am J Hum Genet. 2026; 113(3): 562-81.
The endoplasmic reticulum (ER) serves as a key hub for protein homeostasis, maintaining a strict quality-control system that ensures only properly folded proteins reach their destinations, while misfolded proteins are degraded via ER-associated degradation (ERAD) or selective ER-phagy. JKAMP, which encodes an ER-resident transmembrane protein involved in ERAD, has not previously been associated with human disease. Here, we report bi-allelic loss-of-function variants in JKAMP in 14 affected individuals from 10 unrelated families presenting with a neurodevelopmental syndrome characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features. An in vivo zebrafish model lacking jkamp recapitulated key aspects of the human disorder, including developmental abnormalities and impaired myelin production, further corroborating its pathogenic role. Mechanistic studies identified GPR37, a brain-enriched orphan G protein-coupled receptor (GPCR) and known JKAMP interactor, as a critical downstream effector. GPR37 plays essential roles in dopaminergic signaling, inflammatory pain regulation, neuroprotection, and myelination. Loss of JKAMP resulted in defective folding and degradation of GPR37, leading to its accumulation within the ER and impaired trafficking to the plasma membrane, likely due to impaired ER quality control. These findings establish JKAMP as a previously unrecognized contributor to human neurodevelopment and uncover a pathogenic mechanism linking ER protein quality control to GPCR regulation and neurological disease.
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6. Cohenour T, Gulsrud A, Kasari C. Receptive-Expressive Language Phenotypes in Infants and Toddlers With Autism Features. Autism Res. 2026: e70214.
Children diagnosed with autism often present with an atypical discrepancy between their receptive and expressive language levels, or an atypical receptive-expressive language phenotype. Children with an atypical receptive-expressive phenotype present with a relative receptive language advantage (expressive level < receptive level) or a relative expressive language advantage (expressive level > receptive level), whereas those with a typical phenotype have balanced receptive and expressive language levels. It remains unclear whether atypical receptive-expressive language phenotypes are evident before 24 months in children with autism features or whether they are associated with concurrent child developmental functioning or later language growth. Participants (N = 80) were drawn from a randomized comparative efficacy intervention study for 12-23-month-olds with autism features and elevated scores on an autism diagnostic instrument. Baseline receptive and expressive language age equivalent (AE) scores were used to describe continuous variation in receptive-expressive language phenotypes by quantifying the gap between each child’s receptive and expressive language levels. These continuous metrics were then used to classify children into discrete language profile groups: expressive advantage (EA), receptive advantage (RA), and balanced. On average, children had a gap of three AE « months » between their receptive and expressive language levels. Over 75% of children presented with an atypical receptive-expressive phenotype (40% EA profile, 36% RA profile), whereas only 24% of children had a typical receptive-expressive phenotype (balanced profile). Language profiles were not concurrently associated with age, autism features, joint attention skills, motor or cognitive functioning. However, children with the EA profile at baseline showed significantly slower expressive language growth over 12 months than those with RA or balanced language profiles, suggesting that receptive-expressive language profiles may hold promise as early prognostic markers of expressive language growth in emerging autism. This study examined the discrepancy between receptive and expressive language abilities among children with autism symptoms. Over 75% of children had an atypical discrepancy between their receptive and expressive language levels (an atypical receptive–expressive language profile). Although receptive–expressive language profiles were not associated with developmental factors like age or cognitive ability, we found preliminary evidence that children with a higher expressive than receptive language level (an expressive advantage profile) show slower expressive language growth. eng.
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7. Doğan ND, Turan F. Associations Between Feeding Difficulties, Parental Quality of Life, and Coparenting in Turkish Families of Children With and Without Autism. J Autism Dev Disord. 2026.
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8. Duieb O, Rezqaoui A, Boumlah S, Ibouzine-Dine L, Mallouk H, Ed-Day S, Elhessni A, Mesfioui A. Environmental enrichment partially rescues neurodevelopmental milestone delays in the prenatal VPA rat model of autism spectrum disorders. Behav Brain Res. 2026; 500: 116003.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by early sensorimotor delays, which often precede core social deficits as well as restricted and repetitive behaviors. Environmental enrichment (EE) is a promising behavioral intervention for ASD; however, its potential to prevent these earliest neurodevelopmental disruptions remains unexplored. This study investigated whether sustained EE could prevent early milestone delays in a prenatal valproic acid (VPA) rat model of ASD. Female Wistar rats were housed in standard (SH) or EE conditions for eight weeks, beginning two weeks before conception and continuing through lactation. Dams received a single injection of VPA (500 mg/kg) or saline on gestational day 12.5. Offspring were assessed daily from postnatal day (PND) 1-21 for the acquisition of physical and sensorimotor milestones. EE significantly mitigated VPA-induced delays in a subset of key neurodevelopmental milestones. While EE did not fully normalize development to control levels, a composite neurodevelopmental score revealed that EE significantly attenuated the global impairment induced by VPA. These findings demonstrate that preconception-perinatal EE confers partial protection against functional neurodevelopmental deficits in a predictive ASD model, highlighting its potential as a preventive strategy targeting the earliest manifestations of neurodevelopmental disruption.
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9. Fedoseeva IF, Goncharenko VA, Goncharenko AV, Poponnikova TV, Pinevich OS. [Features of premorbid status in patients with Rett syndrome]. Zh Nevrol Psikhiatr Im S S Korsakova. 2026; 126(2): 136-43.
Rett syndrome is a severe, progressive developmental condition of the nervous system. It is linked to the X chromosome and affects mainly girls aged 6 to 18 months. The syndrome is usually caused by pathogenic mutations in the MECP2 gene, which encodes a methyl-CpG-binding protein. The prevalence of the disease is 1:10.000 in the female population. This syndrome is characterized by a progressive course, loss of acquired motor, mental, and speech functions, and multisystem comorbidities. A case of Rett syndrome in a 3-year-old child, confirmed by molecular genetic analysis, is presented. The features of premorbid neurological status are described, including delayed speech development and muscle hypotonia, which require increased attention and additional molecular genetic testing for differential diagnosis, given the phenotypic heterogeneity of Rett syndrome.
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10. Ferreira J. The link between stress and hyperactivity in a marmoset model of autism. Lab Anim (NY). 2026; 55(3): 73.
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11. Frankenstein NV, Taylor JL, Zheng S, Bishop SL, Libster N, Froehlich TE, Adams RE. Autistic Youth Being Ignored by Peers: An Early-Stage Study. Autism Res. 2026: e70213.
Autistic youth have been shown to be at risk for negative peer experiences, but experiences of being ignored are rarely examined in this group. This study is an early-stage examination of the experience of being ignored in autistic youth. Objectives are to test psychometric properties of a measure of being ignored; describe rates of being ignored; identify who is most at risk for being ignored; and test the association of being ignored with other social experiences and psychological health. One hundred and forty-nine autistic high school students with full scale IQs of 70 or above (M = 99.86, SD = 16.5) and aged 15-23 years completed self-reported, online surveys regarding day-to-day experiences, well-being, and psychological health. Parents completed additional measures assessing ASD symptomology and other demographic and clinical characteristics. A confirmatory factor analysis and Cronbach’s alpha indicated good psychometric properties for the Ignore factor. While the average score on the Ignore scale was relatively low, ~40% reported often having at least one type of experience of being ignored. Being ignored was associated with having more SRS-2 Restricted Interests/Repetitive Behaviors and Social Communication and Interaction Problems. Peer victimization was associated with higher rates on the ignore scale and social inclusion scale was associated with lower rates of being ignored. Multiple regressions controlling for peer victimization and inclusion found being ignored to be associated with higher rates of depression and anxiety. The findings suggest that being ignored may be an especially impactful experience for autistic youth. This study examined the experience of being ignored in a group of 149 high schoolers with autism. It was found that those who reported high rates of being ignored also reported high rates of being targeted for peer victimization and were less likely to be included by the peer group, as well as reporting higher rates of depression and anxiety. The findings suggest that being ignored may be an especially impactful experience for autistic youth. eng.
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12. Grosvenor LP, McGrath M, Douglas J, Ames JL, Amutah-Onukagha N, Avalos L, Baker BH, Brennan PA, Christalin N, Ferrara A, Kelly-Taylor K, Lyall K, Nguyen RHN, Schmidt RJ, Croen LA. Associations between Prenatal Perceived Stress and Child Autism-Related Traits in the ECHO Cohort. J Pediatr. 2026: 115054.
OBJECTIVES: To examine associations of prenatal perceived stress with child autism-related traits and to evaluate effect modification by both child sex and co-occurring prenatal depressive symptoms. STUDY DESIGN: The sample was drawn from Environmental Influences on Child Health Outcomes (ECHO) Cohort sites with data on prenatal perceived stress (Perceived Stress Scale [PSS]) and autism-related traits (Social Responsiveness Scale, 2nd Edition [SRS-2]). We used linear and logistic regression models to determine associations between PSS and either SRS-2 T-scores or odds of moderate-to-severe autism-related traits (SRS-2 T-score ≥65) and evaluated effect modification by sex and prenatal depressive symptoms (PDEP). RESULTS: Among 4,115 mother-child pairs, higher PSS was associated with increased severity of autism-related traits (β=0.15 [95% CI=0.13-0.18]) and odds of moderate-to-severe traits (OR=1.04 [1.04-1.05]). There was evidence for sex-by-exposure interaction for continuous (β(Males)=0.18 [0.14-0.22]; β(Females)=0.13 [0.10-0.16], P(interaction)=0.03) but not dichotomous trait severity (OR(Males)=1.05 [1.03-1.06]; OR(Females)=1.04 [1.03-1.05], P(interaction)=0.52). Associations did not differ by PDEP (Low: N=2,538, b=0.14 [0.11-0.18]; High: N=889, b=0.10 [0.04-0.15]; P(interaction)=0.66). CONCLUSIONS: We found small yet significant associations between prenatal stress and autism-related traits. Limited evidence for effect modification by sex or prenatal depressive symptoms suggests prenatal perceived stress influences autism-related traits after accounting for these factors.
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13. Kondo Y, Tsuchiya K, Matsushita M, Takeshige H, Tozato F. Exploratory Analysis of Sleep-Wake Rhythms and Sensory Processing in School-Aged Children with Autistic Spectrum Disorder: An Actigraphic Study. Pediatric Health Med Ther. 2026; 17: 571178.
PURPOSE: This study aimed to explore and examine the relationship between sleep-wake rhythms and sensory processing characteristics in school-age children with autistic spectrum disorder (ASD) using objective sleep measurement indices. PATIENTS AND METHODS: This cross-sectional exploratory study included 30 children with ASD aged 6-9 years. Sleep-wake rhythms were recorded continuously for at least 14 days using a waist-worn actigraph (MTN-220) and analyzed with SleepSign Act. Sensory processing ability was assessed using the Japanese version of the Sensory Profile (SP-J), with SP-J quadrant and sensory processing scores. Associations between sleep variables and SP-J quadrant and sensory processing scores were examined using Spearman’s rank correlation coefficient, applying Bonferroni correction within each pre-specified correlation set. RESULTS: Of the 30 children initially enrolled, 11 were excluded, yielding data from 19 participants. After Bonferroni correction, no significant associations were found between SP-J quadrant scores and sleep variables (r = -0.411-0.540). Regarding associations with sensory processing scores, the oral sensory score showed a positive correlation with the mean wake time (r = 0.698, p = 0.006). However, no other significant associations were found between sensory processing scores and sleep variables. CONCLUSION: These results suggest that the relationship between oral sensory scores and the average wake time remains strong even during the school-age period when sleep-wake rhythms change. Although exploratory, this study provides foundational insights with clinical significance for understanding and supporting sleep disorders in children with ASD.
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14. Martins B, Martins J, Castelo-Branco M, Gonçalves J. Sex-dependent dysregulation of the gut-brain NPYergic system in a mouse model of autism spectrum disorder. Sci Rep. 2026.
The microbiome-gut-brain axis has been increasingly recognized for its role in the pathophysiology of autism spectrum disorder (ASD), yet the underlying molecular mechanisms remain poorly understood. Neuropeptide Y (NPY), a key modulator of gut-brain communication, may play a pivotal role in this axis. This study investigated the sex-specific molecular profile of the NPY system in gut-brain communication via a genetic mouse model of ASD, the Nf1(+/-) mice. Quantitative real-time PCR was performed to assess the expression of NPY and its receptor transcripts in the amygdala, hippocampus, prefrontal cortex and intestinal tissue of juvenile male and female Nf1(+/-) mice. Additionally, gut microbiota analysis focused on Lactobacillus species in stool samples. Special emphasis was placed on sex differences, an area underexplored in ASD research. Sex-specific differences in NPY and its receptor expression were observed in both the brain and intestinal tissues of Nf1(+/-) mice. In mutant females, estrous cycle fluctuations were partly associated with changes in the NPY system. Notably, distinct correlations between the brain and intestinal NPY systems were identified in both sexes of wild-type (WT) and Nf1(+/-) mice. Microbiota analysis revealed sex-dependent alterations in Lactobacillus abundance, which correlated with the intestinal NPY system. Importantly, the Y2 receptor exhibited sex-specific expression patterns in both the gut and brain of Nf1(+/-) mice. This study provides novel evidence that the NPY system may play a critical role in gut-brain communication in ASD, with sex-dependent alterations in both the brain and gut. The intestinal Y2 receptor has emerged as a potential molecular biomarker for ASD, underscoring the importance of incorporating sex as a biological variable in future ASD research.
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15. Mierau SB, Thom RP, Ravichandran CT, Nagy A, Rice C, Macenski C, Keary CJ, Palumbo ML, McDougle CJ, Neumeyer AM. Genetic Testing History in Adults With Autism Spectrum Disorder. J Autism Dev Disord. 2026.
PURPOSE: Many genes have been identified in autism spectrum disorder (ASD). Yet how many adults with ASD receive recommended genetic testing and their outcomes is unknown. We investigated the percentage of adults with ASD with documented genetic testing in our ASD specialty clinic and the percentage with positive findings. METHODS: Adults were identified through search of our data repository and ASD diagnoses confirmed using record review by psychiatrists specializing in ASD. Patients were included (N = 630) who had at least one visit with a qualifying clinician between 5/1/2010 and 12/15/2020. Data were collected through manual retrospective record review. RESULTS: Only 41% of the adults with ASD (261/630) had a documented history of genetic testing. Genetic testing was declined by patients or families for 11% of records and not recorded in 47%. Mean (SD; range) age for the 261 adults was 28.5 (5.3; 22-58) years; 26% were female and 73% had intellectual disability (ID). The genetic testing method was recorded in 91% (238). Only 54% of these patients had testing using a recommended method (chromosomal array, autism/ID sequencing panel, or exome sequencing). Few adults received testing with sequencing technologies. A genetic cause of ASD was found in 28%. CONCLUSION: ASD-related genetic testing is underutilized in adults with ASD. Nearly half of the adults in our sample lacked documentation of genetic testing. Adults with ASD may benefit from having their genetic testing history reviewed in the clinic and the recommended testing performed.
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16. Öztürk A. The mediating role of mindfulness and psychological resilience in the relationship between internalized stigma and caregiver burden among parents of children with Autism Spectrum Disorder. Front Psychol. 2026; 17: 1751960.
BACKGROUND: Stigma surrounding Autism Spectrum Disorder (ASD) is prevalent, but limited studies have examined its negative psychological effects on parents of children with ASD and the potential protective factors in this family context. Moreover, no research has examined the mediating role of factors such as psychological resilience and mindfulness, that we think may consider potential buffers in the relationship between internalized stigma and caregiver burden which one of its negative consequences for these parents. The aim of this study is to investigate the mediating role of psychological resilience and mindfulness in the relationship between perceived caregiver burden and internalized stigma in parents of children with ASD and to provide a theoretical basis for studies aimed at reducing internalized stigma and caregiver burden in these parents. METHODS: The study was conducted between March 2023 and January 2025 with a sample of 138 parents of children diagnosed with ASD receiving services from special education and rehabilitation centers. Data analysis included descriptive statistics, Pearson correlation, multiple linear regression, and Structural Equation Modeling (SEM) to assess mediation effects. For normally distributed data, Independent Samples t-test and One-Way ANOVA were applied to compare group differences. RESULTS: The study found that parents had average total scores of 14.39 for resilience, 65.97 for internalized stigma, 55.59 for caregiver burden, and 52.93 for mindfulness. Caregiver burden was significantly higher among parents aged 20-25, those with lower income, and female parents. Additionally, having another child with a disability was associated with higher internalized stigma and lower resilience. Internalized stigma was significantly correlated with resilience, caregiver burden, and mindfulness (p < 0.001 for all). Psychological resilience (β = 0.174) and mindfulness (β = 0.254) were found to have significant indirect effects and partially mediated the relationship between internalized stigma and caregiver burden. CONCLUSION: These research findings indicate mindfulness and psychological flexibility are factors contributing to resilience against caregiver burden. Future interventions to reduce burden in caregivers of children with ASD might be improved by the inclusion of resilience and mindfulness training programs.
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17. Peng Y, Sun B, Wang H, Wei Z, Li H, Zhao S. Classification of Autism Spectrum Disorder in Children Using EEG Power Ratios Obtained During a Naturalistic Mentalizing Task. Biol Psychiatry. 2026.
BACKGROUND: ASD diagnosis relies on behavioral observation, but a shortage of qualified experts leads to delayed diagnosis, with the average age of diagnosis being 4.8 years. This study aims to assess the ability of resting-state EEG power spectral features and EEG features during naturalistic theory of mind (ToM) tasks to distinguish children with ASD from typically developing (TD) children and to evaluate early screening potential. METHOD: A cross-sectional diagnostic study was conducted among 183 Chinese children aged 3-11 years (83 with physician-diagnosed ASD and 100 TD children). After quality control, the EEG data of 163 participants were analyzed. Participants wore EEG devices while they watched Disney’s « Partly Cloudy » as a naturalistic social task and completed the resting-state recordings. The primary outcome was XGBoost-based ASD classification performance using resting-state EEG power spectral features and EEG features, , evaluated by accuracy, AUC, sensitivity, and precision. RESULTS: A total of 163 participants (73 ASD, 90 TD) were analyzed. The groups differed significantly in sex (male proportion: 89.15% vs. 67.00%, P<.001) and IQ (92.85 vs. 112.43, P=.035). The mental-control power ratio model performed best, with an accuracy of 0.925 (95% CI, 0.909-0.940) and an AUC value of 0.980 (95% CI, 0.972-0.986). The performance of the resting-state models was poor (accuracies: 0.549 and 0.515). Cross-age prediction remained robust, with accuracies of ∼90-92% and AUCs >97%, showing only slightly reduced precision in the youngest group. CONCLUSIONS: Unlike resting-state EEG features, EEG power ratios during naturalistic ToM tasks distinguish ASD children from TD children with high accuracy.
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18. Pudasainee-Kapri S. Prevalence of Low Birth Weight and Its Developmental Vulnerability Among Infants in Nepal: A Critical Review of the Literature and Future Recommendations. JNMA J Nepal Med Assoc. 2025; 63(287): 541-9.
Limited research has focused on developmental vulnerability of low birth weight (LBW) infants in Nepal. This review analyzes the prevalence and magnitude of LBW in Nepal followed by developmental vulnerabilities and the economic impact of LBW. This is a comprehensive review of current evidence-based literature relevant to the topic. A thorough literature search was conducted across different databases and relevant websites including CINAHL, PsycINFO, Medline, PubMed, Ministry of Health and Population, WHO, UNICEF, etc. Resources cited and kept were articles written in English and dated within the last fifteen years, except for historical and context-specific relevant materials. Majority of research and programs are focused on improving the survival of LBW and preterm infants. There is limited research on developmental outcomes of LBW contributing to a lack of early monitoring, follow-up, and proper interventions. Additional research and interventions targeting parents of LBW infants are needed to reduce the negative developmental consequences of LBW. This review suggests recommendations for future research and the need for education and training among healthcare professionals to improve outcomes.
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19. Roy P, Taywade M, Mohanty PK, Subba SH. Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family. BMJ Case Rep. 2026; 19(3).
Apert syndrome is a rare congenital disorder characterised by craniosynostosis, syndactyly and distinct facial dysmorphisms. We found a child with Apert syndrome from an economically disadvantaged family residing in an urban slum during a routine home visit by the All India Institute of Medical Sciences Bhubaneswar Extended Health Clinic. The child presented with global developmental delay, unvaccinated status and severe malnutrition, manifesting as underweight and stunted growth. Despite being eligible for free healthcare services under the Rashtriya Bal Swasthya Karyakram, the child remained unlinked to it. Contributing factors to this delayed intervention included the family’s low socio-economic status, profound lack of awareness of the condition, poor healthcare-seeking behaviour and insufficient engagement from healthcare workers. Moreover, complex psychosocial issues, such as maternal depression, parental substance abuse, limited social support and insufficient family involvement, further intensified the obstacles to the optimal growth and development of the child, highlighting the multifaceted factors that shape health outcomes in vulnerable populations.
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20. Shen J, Gao J, Gao L, Yan D, Wang Y, Meng J, Li H, Chen D, Wu J. Melatonin ameliorates autistic-like behaviors by restoring gut microbiota-derived tryptophan metabolites. Cell Mol Life Sci. 2026.
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21. Šiška J, Beadle-Brown J, Káňová Š, Havránková T, Černíková M. Defining Transition and Transition Success: Perspectives From Different Stakeholders. J Appl Res Intellect Disabil. 2026; 39(2): e70199.
BACKGROUND: Although research has identified that the transition to adulthood for young persons with intellectual and developmental disabilities is not linear, little is known about how young persons with intellectual and developmental disabilities, parents, and teachers conceptualise transition, particularly successful transition. The focus of this paper is on how the different stakeholders conceptualised transition and what constitutes successful transition, in general, and for persons with intellectual and developmental disabilities. METHOD: Thematic analysis was applied to 8 focus groups with 84 participants, exploring transition and successful transition in the Czech Republic. RESULTS: Five themes emerged, including gaining independence, having a job and opportunities as everybody else, satisfaction with life, and transition of youth with intellectual and developmental disabilities as an important issue which needs to be addressed. CONCLUSIONS: Our findings point to the need for recognising different outcomes of successful transition from postsecondary education to adulthood, not just those primarily related to employment. Participants understood transition in terms of outcomes. Successful transition is about gaining independence, which comes with increased responsibility. Having a job and inclusion of other forms of meaningful activities is also important for a successful transition. This is important in a global climate of economic crisis, increasing technology and automation, and fewer jobs for the general population. The importance of transition for youth with intellectual and developmental disabilities is not often recognised. It needs to be understood and addressed holistically. Availability of just the right and diverse support is the key to a successful transition. Future research could gather more detailed examples of transition successes and of what happens when transition support is not available or fails. eng.
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22. Xue Z, Lan J, Zhao Y, Yu P, Liu L, Lu B, Yang F. A novel rat model harboring two BDNF gene mutations exhibiting autism-like behaviors and cognitive impairments. Neuropharmacology. 2026; 291: 110911.
Autism spectrum disorder (ASD) is a type of neurodevelopmental disorder that occurs most frequently in early childhood, affecting approximately 1% of the global population. Currently, the elusive nature of the pathological mechanisms underlying ASD precludes the existence of a definitive, effective treatment approach. In this study, we have successfully generated a novel ASD rat model utilizing CRISPR/Cas9 technology, offering a promising platform for further investigation and potential therapeutic interventions. The model is characterized by two crucial point mutations occurring at key enzyme cleavage sites of brain-derived neurotrophic factor (BDNF), thereby causing disruptions in enzyme cleavage processes. The phenotypes of this rat model faithfully recapitulate the salient deficits frequently encountered in ASD patients, exhibiting impairments in social behavior, cognition, and anxiety, along with neuronal abnormalities with key brain regions, notably the hippocampus (HPC) and medial prefrontal cortex (mPFC). Through preliminary RNA-seq analysis, we found changes in gene expression patterns related to synapses and neuronal excitability in these areas, providing new insights into the pathogenesis of ASD. Furthermore, our utilization of 7,8-dihydroxyflavone (7,8-DHF), a robust enhancer for the upregulation of both BDNF and TrkB mRNA and simultaneously activates the BDNF-TrkB signaling pathway, appears to strengthen the BDNF-TrkB signaling cascade. This intervention modifies firing patterns of neuronal spikes and synaptic transmission, which may contribute to the amelioration of ASD-like social interaction behavior exhibited in BDNF(met/leu) rats. Our research not only deepens our understanding of the pathogenesis of ASD, but also present encouraging avenue for early intervention strategies and treatments.
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23. Yi X, Huang J, Akinwunmi B, Ming WK. ADBrainNet: a deep neural network for Autism Spectrum Disorder (ASD) and Attention Deficit and Hyperactivity Disorder (ADHD) classification using resting-state fMRI images based on explainable artificial intelligence. Med Biol Eng Comput. 2026.
Autism Spectrum Disorder (ASD) and Attention Deficit and Hyperactivity Disorder (ADHD) are two psychiatric disorders frequently encountered in children. ADHD is further categorized into three subtypes. The diagnostic processes for these conditions are complex and often prone to misclassification. We proposed a lightweight deep neural network, ADBrainNet, to differentiate ASD, ADHD combined, ADHD hyperactive/impulsive, ADHD inattentive and neurotypical individuals. Our methodology was benchmarked against prevalent ImageNet transfer learning methods, including AlexNet, MobileNet, ResNet18, and Xception, for training on resting-state fMRI images sourced from ABIDE and ADHD-200 datasets. ADBrainNet achieved superior performance on the independent external testing set through five-fold cross-validation, with a mean (± standard deviation) accuracy, precision, recall, and F1 score of 61.87% (± 5.59%), 65.72% (± 6.98%), 61.87% (± 5.59%), and 62.50% (± 5.78%), respectively. Furthermore, the explainable artificial intelligence algorithm LIME was employed to explore the most significant features during ADBrainNet’s decision process. Our model provides an interpretable computational framework for neuroimaging-based classification between ASD and ADHD subtypes. This approach may inform future research and, upon further validation and comparison with clinician performance, could potentially aid in patient assessment, stratification, and management of psychiatric disorders.
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24. Yu X, Rahman MM, Lin JC, Chow T, Lurmann FW, Chen JC, Martinez MP, Schwartz J, Eckel SP, Chen Z, McConnell R, Hackman DA, Xiang AH, Garcia E. The potential effects of hypothetical PM2.5 interventions on childhood autism in different neighborhood socioeconomic contexts. Am J Epidemiol. 2026; 195(3): 689-98.
Particulate air pollution is associated with autism spectrum disorder (ASD), with disadvantaged neighborhoods potentially increasing vulnerability due to stress or other social determinants of health. Understanding the impact of air pollution interventions on ASD incidence across neighborhood disadvantage levels can guide policies to protect vulnerable populations. We examined 2 sets of hypothetical particulate matter (PM)2.5 interventions: percentage reduction and regulatory standards as thresholds, to assess their potential effects on ASD cumulative incidence. Using G-computation under a counterfactual framework, we estimated changes in the cumulative incidence of ASD by age 5 under hypothetical interventions compared to observed exposures. Our study involved a birth cohort of 318 298 children born between 2001-2014 in Southern California, with 4548 diagnosed with ASD by age 5. Pregnancy average PM2.5 and neighborhood disadvantage were assigned to residential addresses. Adjusted Cox regression models were applied to estimate ASD cumulative incidence. Reducing pregnancy average PM2.5 by 30% or below 9 μg/m3 would have prevented 10.6 (95% CI, 3.6-19.2) and 12.5 (2.7-23.6) ASD cases per 10 000 children, respectively. The decreases in ASD cumulative incidence under hypothetical interventions were similar across neighborhood disadvantage levels. These findings suggest that reducing ambient PM2.5 levels to meet or surpass current standards could help prevent ASD.
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25. Zhou M, Zhang H. Exploring autism spectrum profiles via network analysis of parent-reported ASSQ patterns. BMC Psychiatry. 2026.
BACKGROUND: The behavioral profile of autism spectrum disorder (ASD) is highly heterogeneous. Analyses relying on total scores often fail to capture the associative patterns among individual behavioral items. This study applied network analysis to parent-reported Autism Spectrum Screening Questionnaire (ASSQ) data to explore the internal associative structure among core ASD behavioral domains and to identify key items within the network. METHODS: This retrospective study included 995 children and adolescents aged 7-16 years diagnosed with ASD according to ICD-10 criteria at Xiamen Xianyue Hospital between 2019 and 2025, whose parents completed the ASSQ. Given the 3-point Likert scale of the ASSQ, two parallel network modeling strategies were employed to enhance robustness: a dichotomized (Ising model) and an ordinal (Gaussian Graphical Model, GGM) approach to explore associations among ASSQ items. Comorbidities and psychiatric medication history were included as covariates. Central and bridge nodes were identified using expected influence and bridge expected influence, respectively, and the optimal model was selected. Network Comparison Tests were conducted to examine differences in global strength and structure between sex (male/female) and age groups (7-11/12-16 years). RESULTS: (1) The ordinal network model (ASSQ-GGM network) demonstrated better centrality stability and was therefore selected for reporting. (2) The ASSQ-GGM network identified the following central nodes: Q11 (inability to adjust, EI = 1.238), Q27 (unusual posture, EI = 1.154), and Q15 (fails to make relationships with peers, EI = 1.047). Bridge nodes were: Q26 (unusual facial expression, bEI = 0.806), Q11 (inability to adjust, bEI = 0.719) and Q12 (lacks empathy, bEI=0.710). (3) Network Comparison Tests found no significant differences in network structure by sex or age, which may be due to insufficient or imbalanced subsample sizes. The possibility of sex- or age-specific network patterns cannot be ruled out. CONCLUSIONS: This study presents a network of interrelated parent-reported ASD-related behavioral features based on ASSQ items. No significant sex or age differences in network structure were found. These findings provide insights into the associative patterns among ASSQ items. As this study is based on cross-sectional, guardian-reported data, the findings are hypothesis-generating and do not support causal inferences. Any implications for intervention require validation through longitudinal or experimental studies. CLINICAL TRIAL NUMBER: Not applicable.