Pubmed (TSA) du 02/01/26
1. Al-Hamza Marhoon AA, Obaid KB. Maternal attitudes and home-based interventions for enhancing social, attention, and language skills in children with autism in Diwaniyah, Iraq. Front Psychiatry. 2025; 16: 1700859.
BACKGROUND: Autism Spectrum Disorder (ASD) presents significant developmental challenges, particularly in low-resource settings. Maternal attitudes and engagement in home-based interventions are critical for supporting children’s social, attention, and language development. AIMS: To assess maternal attitudes toward children with ASD and evaluate the implementation of home-based interventions targeting social, attention, and language skills in Diwaniyah, Iraq. METHODS: A descriptive, cross-sectional study was conducted between April and August 2025, involving a census sample of 205 mothers of children with ASD from three autism centers in Diwaniyah. Data were collected through structured face-to-face interviews using a validated questionnaire. Statistical analyses were performed using SPSS version 25, with descriptive statistics and Chi-square tests applied to examine the data. RESULTS: The majority of mothers (79.0%) exhibited positive attitudes toward their children with ASD. Positive maternal attitudes were significantly associated with higher education, urban residence, sufficient income, attendance at educational sessions, and absence of family mental illness (p < 0.05). Home-based intervention implementation was high in most domains: 67.3% for social skills, 88.8% for attention, and 67.8% for language. A statistically significant association was found between positive maternal attitudes and the use of home-based interventions targeting social skills (P value = 0.001), but not for attention or language interventions (P values > 0.05). After adjusting for potential confounders, the results show that maternal attitudes were significantly associated only with the likelihood of using home-based interventions within the social domain (adjusted odds ratio = 1.021; 95% CI: 0.208-5.010; p = 0.001). CONCLUSION: Maternal attitudes significantly influence the implementation of home-based social skill interventions in children with ASD. Strengthening caregiver training and psychosocial support, particularly in underserved areas, is essential to enhance home-based developmental outcomes in low-resource contexts like Diwaniyah.
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2. Antonyan L, Shaheen SM, Burton CL, Baldwin G, Neill R, Easter P, MacMaster F, Hanna GL, Rosenberg D, Arnold PD. Association of Brain Structural Measurements and Polygenic Risk Scores with Obsessive-Compulsive Symptoms in Adolescents Diagnosed with Obsessive-Compulsive Disorder, Attention-Deficit/Hyperactivity Disorder, Anxiety, Depression, Autism and Tic Disorders. medRxiv. 2025.
Obsessive-compulsive symptoms, characterized by intrusive thoughts and repetitive behaviors, are prevalent among youth. These symptoms are known to be moderately heritable and linked to structural brain changes involved in their pathophysiology. This study investigates the connections between structural brain alterations (cortical thickness, surface area and subcortical volume), genetic variation, and childhood obsessive-compulsive symptom scores within 143 samples of healthy control participants and cases diagnosed with obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, anxiety disorder, autism spectrum disorders and/or tic disorders. We hypothesize that the effect of genetic variants on standardized scores of obsessive-compulsive symptoms is mediated by imaging endophenotypes. To do so we test for associations between polygenic risk scores and structural imaging phenotypes within cortico-striato-thalamo-cortical circuitry and perform mendelian randomization analyses to identify potential causal pathways linking polygenic risk scores of structural brain alterations and obsessive-compulsive symptoms assessed with the Obsessive-Compulsive Subscale of the Child Behavior Checklist. We observed that changes in cortical thickness of rostral middle frontal cortex and surface area of orbitofrontal cortex, along with other four regions have a significant genetic contribution in OCS adolescent samples. Additionally, surface area of inferior parietal lobule may act as a causal mediator between high-risk variants and obsessive-compulsive symptoms. The mentioned three regions are part of cortico-striato-thalamo-cortical circuitry that have various regulatory effects on obsessive-compulsive symptoms. If these findings replicated in larger samples, they could offer valuable insights into the neurobiology of obsessive-compulsive traits and related structural alterations in specific brain regions.
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3. Bhattacharyya A, Ghosh PD. Necessity of an Eclectic Intervention Module to Enhance Emotion Comprehension and Channelization in Minimally Verbal Individuals with Autism. Indian J Psychol Med. 2025: 02537176251407055.
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4. Chiem E, Ganesh SSA, Dodson J, Dapretto M, Hernandez L. Effects of polygenic liability for autism on neonatal thalamocortical connectivity and behavioral outcomes across sex. medRxiv. 2025.
Functional brain networks are altered in Autism Spectrum Disorder (ASD), with differences in thalamocortical connectivity detectable as early as infancy. ASD shows distinct sex differences, not only in diagnostic rates, but also in brain and behavioral manifestations of the condition. Although common variants account for much of the genetic liability for ASD, little is known about the impact of ASD-associated genetic variation on functional brain connectivity and behavioral outcomes in early life or how this may differ between males and females. Here, we utilize functional MRI (fMRI), genetic, and behavioral data from the Developing Human Connectome Project (dHCP) to investigate sex differences in the association between ASD polygenic scores (PGS), thalamocortical functional connectivity (37-44 weeks postmenstrual age), and behavioral outcomes (18 months) in European term-born infants. We show that across the full sample, higher ASD PGS is associated with weaker thalamic connectivity with posterior parietal cortex, as well as greater ASD-related and ADHD symptoms and slower motor development. Sex differences in the relationship between ASD PGS and thalamic connectivity largely encompassed sensorimotor, posterior parietal, temporal, and insular cortices. Further, in female infants, thalamic connectivity patterns associated with greater genetic liability for ASD were related to poorer motor development. These findings suggest genetic predisposition for ASD shapes early thalamocortical functional connectivity in a sex-specific manner and negatively impacts behavioral development in early toddlerhood.
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5. Han W, Yang X, Li X, Wang J, Liu J, Pang W. Machine learning-based diagnosis of autism spectrum disorder in children and adolescents using eye-tracking data: a systematic review and meta-analysis. Int J Med Inform. 2025; 208: 106235.
OBJECTIVE: Eye-tracking technology has been increasingly investigated as an objective approach for distinguishing individuals with Autism Spectrum Disorder (ASD) from typically developing (TD) individuals. Artificial intelligence and machine learning (ML) methods have been widely applied to support ASD diagnosis and treatment, and prior studies suggest that ML models leveraging eye-tracking data can achieve high diagnostic accuracy. This systematic review and meta-analysis aimed to evaluate the diagnostic performance of machine-learning models using eye-tracking data to distinguish children and adolescents with ASD from TD peers. METHODS: We systematically searched PubMed, Embase, Web of Science, IEEE Xplore, Scopus, and the Cochrane Library from inception to August 3, 2025. We included studies that applied ML methods to eye-tracking data to distinguish children with ASD from TD children. We extracted data on participant characteristics, model performance, eye-tracking protocols, and machine-learning algorithms. The review protocol was registered in PROSPERO (CRD420251162462). RESULTS: We identified 1,045 records, of which 25 studies were included in the meta-analysis. The included studies comprised 2,319 participants, with sample sizes ranging from 32 to 529 per study. The pooled accuracy, sensitivity, and specificity of machine-learning models using eye-tracking data to distinguish children with ASD from TD children were 85 % (95 % CI, 81-89 %), 86 % (95 % CI, 82-89 %), and 86 % (95 % CI, 79-91 %), respectively. These results suggest that eye-tracking-based machine-learning approaches have good diagnostic performance for identifying ASD. CONCLUSION: Eye-tracking-based machine-learning approaches show considerable potential for distinguishing children with ASD from TD children. However, the robustness and generalizability of these findings are limited by the lack of external validation, small sample sizes, and substantial between-study heterogeneity. To establish generalizability, future research should prioritize standardized eye-tracking paradigms and large-scale, prospective, multicenter study designs with external validation. Such efforts may facilitate the translation of these models into clinical practice as objective and efficient adjunctive screening tools.
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6. Long EE, Gaffrey MS. Demographic Predictors of Diagnostic Timing in Autism Spectrum Disorder and Co-occurring Mental Health Conditions: Evidence From Pediatric Electronic Health Records. J Dev Behav Pediatr. 2026.
OBJECTIVE: The present study examined the diagnostic sequencing of co-occurring autism spectrum disorder (ASD) and mental health diagnoses in youth and the impact of demographic factors on diagnostic patterns. METHODS: Data were extracted from the electronic health record of youth (n = 3357) under age 18 years in a pediatric health care system in the midwestern United States. Patients with co-occurring ASD and mental health disorders were categorized based on the order in which they were diagnosed: ASD first, mental health disorder first, or concurrent diagnoses. T-tests and linear and multinomial regressions were used to examine whether age at ASD diagnosis differed based on the presence of a mental health disorder and to examine demographic variables as predictors of diagnostic patterning. RESULTS: ASD was diagnosed 3 years later in youth with a mental health disorder, t(13,464) = 34.26, p < 0.001. Youth were most often diagnosed with a mental health disorder before ASD. Girls were 0.65 times less likely than boys to receive an ASD diagnosis first compared with a mental health diagnosis first (p = 0.006) and were diagnosed with ASD later than boys (B = 0.97, p = 0.006). Black and multiracial Hispanic children were more likely than White children to receive an ASD diagnosis first compared with a mental health diagnosis (odds ratios 1.37-1.93) and were diagnosed with ASD earlier. Minoritized children were more likely to receive externalizing diagnoses. CONCLUSION: Findings highlight issues of diagnostic overshadowing in the diagnosis of ASD and co-occurring mental health conditions, and elucidate demographic groups who may be at risk for late diagnosis of ASD.
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7. Lu JH, Shen SY, He WJY, Zhou FJ, Xia XY, Lu MS, He JR, Xia HM, Qiu X, Zhou WH. [Association between small vulnerable newborn phenotypes and the risk of neurodevelopmental delay at the age of 1 year: a prospective cohort study]. Zhonghua Er Ke Za Zhi. 2026; 64(1): 52-60.
Objective: To investigate the association between small vulnerable newborn (SVN) phenotypes and the risk of neurodevelopmental delay at the age of 1 year. Methods: A prospective cohort study was conducted. A total of 25 860 singleton infants from « The Born in Guangzhou Cohort Study » who completed the Gesell developmental scale assessment at 1 year of age between January 2013 and June 2025 were included. Maternal sociodemographic characteristics, and other information were collected using a self-designed questionnaire, and maternal pregnancy-related information and neonatal birth data were extracted from medical records. Global developmental delay (GDD) was defined as a developmental quotient below 86 in ≥3 domains of the Gesell developmental scale, which assesses the adaptive, gross motor, fine motor, language, and personal-social domains. The random forest algorithm was employed for missing data imputation. Based on prematurity, small for gestational age (SGA), and low birth weight (LBW), newborns were categorized into 6 phenotypes: preterm-SGA-LBW, preterm-appropriate for gestational age (AGA)-LBW, preterm-AGA-nonLBW, term-SGA-LBW, term-LBW-only or term-SGA-only, and term-AGA-nonLBW phenotype. Among these, the first 5 were classified as SVN phenotypes, and the last one served as the reference group. Inter-group comparisons were performed using analysis of variance (ANOVA), χ² tests, or Kruskal-Wallis test, as appropriate. Multivariable robust Poisson regression models were applied to analyze the association of different SVN phenotypes with the risks of GDD and developmental delays in specific domains, with stratified analyses by sex. Results: Among the 25 860 infants, 13 719 (53.1%) were male and 12 141 (46.9%) were female. The gestational age at birth was 39.4 (38.6, 40.0) weeks. The overall detection rate of GDD at 1 year of age was 3.7% (962/25 860). The rates of delay across developmental domains, in descending order, language in 8 134 cases (31.5%), gross motor in 4 488 cases (17.4%), personal-social in 1 271 cases (4.9%), adaptive in 1 262 cases (4.9%), and fine motor in 621 cases (2.4%). Compared with the reference group, preterm-AGA-LBW, preterm-SGA-LBW, preterm-AGA-noneLBW, and term-SGA-LBW phenotypes were all associated with an increased risk of GDD, with the adjusted RR (95%CI) of 6.07(5.01-7.35), 4.81(3.11-7.46), 2.10(1.54-2.88) and 1.89(1.29-2.76) respectively.The preterm-AGA-noneLBW phenotype was all associated with an increased risk of delay in gross motor, language and personal-social functional domains (all P<0.05). The term-SGA-LBW phenotype was associated with an increased risk of delay in gross motor, fine motor and personal-social functional domains (all P<0.01). Whereas the term-LBW-only or term-SGA-only phenotype showed no statistically association with developmental delay in any functional domain (all P≥0.05). Conclusion: The combined classification based on gestational age and birth weight helps identify infants at high risk for neurodevelopmental delay at 1 year of age, suggesting that it may offer a reference for the rational allocation of clinical resources.
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8. Nachman BR. « Listening with Your Heart »: Autism Support Program Faculty Experiences in Teaching Autistic College Students. Autism Adulthood. 2025; 7(5): 558-67.
BACKGROUND: As more autistic college students enroll in higher education, the need for capable faculty to support their learning experiences rises. Although well intentioned, many educators are not always the most adept in supporting their autistic learners. This descriptive phenomenological reflective lifeworld research seeks to understand the essence of autism-specific college support program faculty experiences in teaching autistic college students. METHODS: This study entailed conducting interviews with four full-time faculty, two staff who teach part-time, and eight other administrators or staff at a community college boasting an autism-specific college support program. Additionally, the author drew on observing a classroom session, program information session, and the campus via a tour, as well as course syllabi, to provide a fuller picture. Dahlberg and colleagues’ data analysis methods provided a mechanism for interpreting the information. RESULTS: Four themes helped describe the essence of faculty experiences in teaching their autistic learners: unfamiliarity, flexibility, disruption, and optimism. Whereas faculty may, at first, lack familiarity with autism, they draw on that desire for further knowledge to directly learn from their students, creating opportunities for trust building. They also welcome feedback from students and fellow staff alike to engage in flexible teaching techniques. Adaptability and willingness to learn help them navigate difficult course experiences. These experiences ultimately enhance faculty members’ confidence to teach autistic learners and translate inclusive teaching measures to their courses writ large. CONCLUSION: This study unveils the many aspects of faculty members’ experiences in interacting with autistic students, particularly within the unique landscape of a college with an autism-specific college support program that highlights neurodiversity. Importantly, this study contributes new knowledge about how faculty draw on their resources, knowledge, and past teaching experiences to shape their iterative approaches to working with autistic students. COMMUNITY BRIEF: Why is this an important issue?: Autistic college students are increasingly enrolling in higher education institutions, yet many of the faculty and staff who work with them are unaware of, and unprepared to, support their classroom experiences. This issue contributes to faculty sometimes misunderstanding autistic students and missing opportunities to build more inclusive classrooms.What was the purpose of the study?: My aim was to find out what faculty experience in working with autistic learners, and how they adapt their teaching approaches.What did the researcher do?: This study was set in a community college, with an autism-specific college support program that works toward college and career skills for its neurodivergent learners. I conducted interviews with four full-time faculty teaching in this program, two additional part-time faculty who are college staff, and two additional staff members. I also observed a class session and program information session, toured the campus, and reviewed all current course syllabi to understand faculty members’ evolving experiences in supporting autistic learners.What were the results of the study?: I found that faculty felt a mix of emotions and adopted various teaching approaches, when working with autistic college students. For instance, faculty often entered from a place of unfamiliarity, though they sought knowledge from colleagues and additional resources to enhance their understanding of, and comfort to teach, autistic learners. This context helped them in navigating moments when students acted in a disruptive manner. Many faculty relied on past course experiences, and interactions with autistic learners, to inform their feelings of optimism in teaching future students.What do these findings add to what was already known?: To date, while there have been a handful of studies focused on faculty members’ engagement with autistic learners, few have concentrated on settings within an autism-specific college support program. Study findings show how faculty working in these environments committed to neurodiversity, incorporated inclusive and transferable teaching techniques, while also growing in their comfort and confidence to work with autistic learners.What are the potential weaknesses of the study?: As I engaged only with faculty members teaching in, and staff familiar with, the autism-specific college support program, I did not necessarily gather perspective from individuals with less context on neurodiversity. In the end, the campus and participants selected for this study may not be representative of most college campuses without such autism acceptance.How will these findings help autistic adults now or in the future?: Study findings will give perspective into how faculty members can more inclusively serve autistic learners, ultimately benefitting the academic experiences of future generations of autistic students entering college.
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9. Roberts E, Scott L. The Role of Social Adversity in the Association Between Autistic Traits and Borderline Personality Disorder Symptoms. Personal Ment Health. 2026; 20(1): e70060.
Autism and personality disorders, including borderline personality disorder (BPD), demonstrate high levels of co-occurrence. Autistic individuals are more likely to experience social adversity and exhibit heightened reactivity to stressors, while social adversity is a well-established precursor to BPD. The current study investigated the role of social adversity in the association between autistic traits and BPD symptoms, and the moderating role of autistic traits in the association between social adversity and BPD symptoms. Data of 7403 individuals from the 2007 Adult Psychiatric Morbidity Survey in Great Britain were used. Path analysis was conducted to determine whether victimisation and a lack of social support have a role in the association between autistic traits and BPD symptoms. Moderation analysis was applied to assess whether associations of victimisation and a lack of social support with BPD symptoms vary as a function of autistic traits. Analysis was conducted before and after adjustment for sociodemographic covariates. Victimisation and a lack of social support had a role in the relationship between autistic traits and BPD symptoms. Autistic traits moderated the association between victimisation and BPD symptoms, such that the association was greater in individuals with more autistic traits. These observations were robust to adjustment for sociodemographic covariates. The co-occurrence of BPD in autistic individuals may reflect a double vulnerability, characterised by both heightened exposure to social adversity and increased susceptibility to its effects. However, it is important to note that these findings must be viewed as associational pathways rather than causal relationships.
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10. Sollie T, Akingbuwa WA, de Wit MM, Badura A, Polderman TJC. Sex Differences in the role of Additive Genetic Variants in Autism: A Systematic Review. medRxiv. 2025.
OBJECTIVE: Autism shows a male-biased diagnostic sex ratio. Given the heritability of autism, genetic factors likely contribute to this ratio. This study systematically reviews sex differences in additive common genetic effects related to autism and autistic traits. METHODS: Original research was collected from PubMed, Web of Science, APA PsycInfo and Scopus (2008 – July 2025) following PRISMA guidelines. Genome wide association studies (GWASs) on autism, and related downstream analyses, including polygenic scores (PGS), Single-Nucleotide Polymorphism (SNP) heritability, and genetic correlations were included when sex-stratified results were reported. Risk of bias was assessed, followed by a best-evidence synthesis. RESULTS: Of 6,053 records screened, 21 studies were eligible. In clinical populations, results on mean PGS differences were inconclusive. In subgroups without intellectual disability, strong evidence indicated higher mean PGS in females. In general population samples, weak evidence supported this pattern. PGS associations with autistic traits showed inconsistent results, although stronger associations were reported for sensory sensitivity in males with weak evidence. SNP heritability findings were inconclusive. Genetic correlations between the sexes were significantly different from 1 ( r (g) = 0.80 ( SE = 0.09), but evidence was considered weak. DISCUSSION: Findings suggest an axis of heterogeneity around intellectual disability. Inconsistent findings largely resulted in inconclusive evidence. Results highlight a lack of sex-stratified reporting and were limited by sample makeup such as male- and European ancestry dominated cohorts. Future sex-balanced and stratified GWAS and downstream analyses with complete reporting of female and male data are needed to clarify potential genetic sex differences in autism.
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11. Zhang S, Xiang P, Suo M, Yi Z, Wei Z, Li J, Zeng Y, Chen Y. Therapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in Fragile X Messenger Ribonucleoprotein 1 KO Mice. Brain Res Bull. 2025: 111710.
Fragile X syndrome (FXS) stands as the predominant single gene mutation pathogenic factor linked to autism spectrum disorder (ASD), and it constitutes an inherited intellectual disability rooted in the disruption of fragile X messenger ribonucleoprotein 1 gene (FMR1). The neurodevelopmental disorder is characterized by synaptic dysfunction manifesting as the impairment of cognitive function and social communication. Wnt/β-catenin pathway plays a pivotal role in regulating synaptic structural remodeling and functional homeostasis, critically contributing to higher-order neural processes such as learning and memory. Studies have identified glycogen synthase kinase 3 beta (GSK3β), a key negative regulator of Wnt signal transduction, is abnormally activated in the pathophysiology of FXS, and demonstrated that GSK3β inhibition partially rescues cognitive and behavioral deficiencies in FXS mice. However, the spatiotemporal dysregulation of β-catenin dynamics and its synaptic consequences remain poorly understood. In this study, we aim to investigate the role and molecular mechanism of Wnt/β-catenin pathway during the developmental stages of FXS. Fmr1 gene knockout (Fmr1 KO) mice were utilized as a model for FXS. We systematically explored β-catenin homeostasis across subcellular compartments. Our results showed that there was an increased phosphorylation of β-catenin at Ser(33,37), Thr(41) and Ser(552) residues, which foster its degradation. This was accompanied by reduced levels of active β-catenin in the membrane, cytoplasm and nucleus within the hippocampus (Hipp) and prefrontal cortex (PFC) of Fmr1 KO mice. Confocal microscopy further demonstrated diminished co-localization of β-catenin with N-cadherin, leading to compromised intercellular adhesion in both Fmr1 KO neurons. Moreover, FXS mice showed impaired neuronal morphology and deficiencies in social and cognitive functions, which are associated with the downregulation of pre- and postsynaptic proteins targeted by Wnt pathway. Strikingly, pharmacological activation of Wnt signal transduction restored β-catenin nuclear translocation and synaptic protein expression, rescuing neuronal ultrastructural abnormalities and improving cognitive and social behaviors. Our findings establish hypoactivity of canonical Wnt signaling as a central mechanism underlying synaptic pathology in FXS, linking β-catenin destabilization to altered neuronal morphology, aberrant synaptic protein networks, and behavioral phenotypes. Consequently, bolstering Wnt pathway may represent a promising neuroprotective strategy for precision intervention in FXS.