Pubmed du 23/10/25
1. Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study. Dev Med Child Neurol. 2025.
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2. Andric I, Beronja B, Lukic B, Bubnjevic T, Boskovic M, Milanovic M, Dotlic J, Milic M, Maksimovic N, Gazibara T. ‘Indeed, I Was Afraid. But I See Now I Shouldn’t Have’: Voices of Vaccine-Accepting Parents About MMR Vaccination 25 Years After Wakefield’s Autism Fallacy. J Eval Clin Pract. 2025; 31(7): e70302.
RATIONALE AND AIM: Over the past two decades several measles outbreaks occurred in Serbia with 15 fatal outcomes because the measles-mumps-rubella (MMR) vaccine coverage is low. The study purpose was to explore the attitudes of parents of vaccinated children towards the MMR vaccine. METHODS: This qualitative research was conducted on 40 parents of MMR vaccinated children aged 1-8 years throughout Serbia. Purposive sampling with maximum variation was used. Parents were interviewed while attending regular paediatric check-ups at the primary health centres. Participant selection was finalised when thematic saturation was achieved. Qualitative content analysis was applied. RESULTS: On average, parents were 36 ± 6 years old. The data were classified according to these themes: (1) General attitudes towards vaccination, (2) Sources of information about the MMR vaccine, (3) Interactions with health care workers, (4) Fear of MMR vaccination and (5) Perceived adverse effects associated with the MMR vaccination. The majority of parents expressed positive attitudes about vaccines in general and was accepting of MMR vaccination. Most parents explained that discussion with the paediatrician about the MMR vaccine was crucial in the process of accepting vaccination. Although one-half of parents were not afraid of the MMR vaccine, the other half of parents were still unable to completely let go of fear that something bad can happen to their child, despite the evidence. CONCLUSION: The vast majority of parents support MMR vaccination. However, many parents of MMR vaccinated children still expressed lingering fear of adverse effects despite knowing that MMR-autism link was rejected.
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3. Boxberger A, Chen B, Olson L, Cordova M, Mahmalji J, Rios A, Linke AC, Fishman I. Functional connectivity patterns differ as a function of co-occurring attentional problems in preschoolers with autism. J Neurodev Disord. 2025; 17(1): 63.
BACKGROUND: Symptoms of attention-deficit/hyperactivity disorder (ADHD) are common in children with autism spectrum disorder (ASD), and are associated with greater developmental challenges, poorer clinical outcomes, and alterations in functional connectivity (FC) of the brain. However, despite the consensus that ASD and other neurodevelopmental conditions emerge early in life, little is known about the trajectories of brain and behavioral development during the first years of life in children with ASD and co-occurring attention problems (AP). METHODS: In a sample of 122 young children (ages 1.5-5 years) with and without ASD, we examined whether toddlers and preschoolers with ASD and co-occurring AP already differ from peers with ASD without co-occurring AP on adaptive and developmental skills, ASD symptoms, and FC of the frontoparietal and salience networks, which have been previously linked to ADHD symptoms in older children with ASD and ADHD. RESULTS: Results of general linear model analyses revealed lower developmental and adaptive skills across multiple domains in children with ASD and elevated AP compared with their peers with lower AP, despite equivalent levels of ASD symptoms. Further, children with ASD and elevated AP showed reduced FC within the frontoparietal network (p = .027), between the frontoparietal and language networks (p = .004), and the frontoparietal and default mode networks (p = .046) in comparison to their peers with lower AP. No group differences in FC of the salience network were observed (all p > .05). CONCLUSIONS: These findings provide evidence that neurodevelopmental and behavioral differences in children with ASD and co-occurring AP emerge very early in life, before a reliable diagnosis of ADHD is typically made. Specifically, these results demonstrate that early inattention symptoms are associated with unique connectivity patterns in executive circuitry as early as the first years of life in toddlers and preschoolers with ASD, likely contributing to the phenotypic and neural heterogeneity recognized in autism. Thus, our results underscore the importance of considering co-occurring conditions early in developmental research and clinical care, as further understanding these trajectories can inform early interventions during the critical time period when they have the greatest potential for positive impact.
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4. Cao C, Wang M, Li X, Huang Y, Gao X. Personalized Structure Preservation Based Graph Neural Network via Connection Interaction and Refinement for Autism Spectrum Disorder Diagnosis. IEEE J Biomed Health Inform. 2025; Pp.
Graph Neural Networks (GNNs) have garnered widespread recognition in the identification of Autism Spectrum Disorder (ASD) owing to their remarkable adaptability to irregular patterns of Functional Brain Networks (FBNs). However, current methods for constructing FBNs generally employ a uniform modeling strategy to process neuroimaging data from different subjects, which fail to consider the heterogeneity of functional connectivity patterns among individuals adequately. In addition, existing methods tend to excessively focus on directly connected brain Regions of Interest (ROIs) when analyzing brain networks, underestimating the importance of indirectly connected brain ROIs. Atthesametime, conventional approaches for identifying crucial brain regions may miss vital regions due to rigid threshold constraints. To address these issues, we propose Personalized Structure Preservation based GNN (PSP-GNN) for ASD diagnosis, which incorporates three aspects: 1) A personalized structure preservation strategy that constructs individualized brain networks by accounting for subject-specific variations; 2) A connection interaction-aware module designed to characterize interactions between directly and indirectly connected brain regions, providing comprehensive brain network representations; 3) A flexible brain region refinement technique based on Bernoulli sampling, which identifies salient brain regions without relying on pre-defined thresh olds. Experimental results demonstrate the effectiveness of PSP-GNN in ASD diagnosis, highlighting its potential as a robust tool for future ASD diagnosis applications that combine FBNs and GNNs. Notably, thecritical brain regions identified by PSP-GNN are consistent with established medical knowledge, suggesting their utility as potential biomarkers for clinical ASD diagnosis. The code is available at https://github.com/jstrpoadxwe12/PSP-GNN.git.
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5. Cloutier M, Yu C, Talarico R, Hawken S, Chen H, Weichenthal S, Cakmak S, Hebbern C, Gunz A, van Donkelaar A, Martin RV, Côté JN, Lavigne É. Prenatal Exposure to Fine Particulate Matter Components and Autism Risk in Childhood. JAMA Netw Open. 2025; 8(10): e2538882.
IMPORTANCE: Prenatal and early-life exposure to fine particulate matter (PM2.5) has been associated with autism spectrum disorder (ASD), but the role of individual components and timing of exposure remains unclear. OBJECTIVE: To examine associations between prenatal and first-year-of-life exposure to PM2.5 components and ASD diagnosis, and identify potentially sensitive periods during pregnancy. DESIGN, SETTING, AND PARTICIPANTS: This cohort study conducted in Ontario, Canada, used administrative health data covering approximately 98% of births in the province. The cohort included singleton live births from Ontario hospitals between April 1, 2002, and December 31, 2022, with gestational age 36 to 42 weeks, birth weight 500 to 6800 g, maternal age 15 to 55 years, complete residential history, and provincial health insurance coverage. At least 18 months of follow-up was required for postnatal exposure analyses. EXPOSURES: Biweekly concentrations of PM2.5 components (black carbon, dust, ammonium, nitrate, organic matter, sulfate, sea salt) and weekly NO2 and O3 from conception to age 36 weeks. Prenatal models were adjusted for postnatal exposure using annual averages. Pollutant levels were estimated using satellite data, chemical transport models, and ground-based measurements. MAIN OUTCOMES AND MEASURES: ASD diagnosis by age 5 years. Cox proportional hazards models were used to assess associations, and distributed lag nonlinear models identified sensitive exposure windows. RESULTS: Among 2 183 324 births (mean [SD] maternal age, 30.5 [5.4] years; mean [SD] gestational age at birth, 39.2 [1.1] weeks; 1 152 040 female infants [48.9%]), prenatal exposure to PM2.5, sulfate (SO42-), and ammonium (NH4+), and postnatal exposure to ozone (O3), were associated with ASD. Hazard ratios (HRs) per 1-IQR increase for SO42- were 1.15 (95% CI, 1.06-1.25) and for NH4+ was 1.12 (95% CI, 1.01-1.23). PM2.5 mass excluding SO42- and NH4+ during their respective critical windows was not associated with ASD (HR, 1.04; 95% CI, 0.92-1.19). O3 exposure during weeks 26 to 30 (HR, 1.03; 95% CI, 1.00-1.05) and over the first year (HR, 1.09; 95% CI, 1.01-1.17) was also associated with ASD. CONCLUSIONS AND RELEVANCE: In this large cohort study, prenatal exposure to specific PM2.5 components and postnatal O3 exposure were associated with ASD risk. The second and third trimesters may represent sensitive exposure windows. These findings support further research on air pollution’s role in ASD etiology.
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6. Etman I, ElZawawy T, Zaki A, ElEmam AM, AbdelAzeem AM. Echocardiographic insights of right heart dynamics after transcatheter ASD closure: A prospective study. Am Heart J Plus. 2025; 59: 100632.
BACKGROUND: Transcatheter atrial septal defect (ASD) closure is a minimally invasive procedure, yet variability in right heart reverse remodeling post-procedure remains understudied. OBJECTIVE: To evaluate the impact of transcatheter ASD closure on right ventricular (RV) parameters and tricuspid regurgitation (TR) severity over six months, and to identify predictors of RV reverse remodeling and TR improvement. METHODS: This prospective study included 60 adult patients who underwent successful transcatheter ASD closure. Transthoracic echocardiography was performed at baseline, and at 1, 3, and 6 months post-procedure to assess RV dimensions, systolic function, and TR severity. RESULTS: Significant reductions were observed in RV dimensions-including tricuspid annular diameter, RV basal diameter, RV mid-cavity diameter, and RV outflow tract diameter-at 6 months (p < 0.001). RV systolic function declined at 1 month and remained stable thereafter. TR severity improved significantly at 1 and 3 months. Predictors of RV reverse remodeling at 6 months included younger age (OR: 0.949; 95 % CI: 0.913-0.986), sinus rhythm (OR: 0.113; 95 % CI: 0.022-0.569), lower shunt ratio (OR: 0.259; 95 % CI: 0.068-0.993). Predictors of TR improvement included the same factors, in addition to smaller tricuspid annular diameter and smaller right atrial end-systolic area. CONCLUSION: Transcatheter ASD closure leads to significant right heart reverse remodeling and TR improvement. Younger age, sinus rhythm, and smaller preprocedural chamber dimensions predict RV reverse remodeling and improvement of TR, supporting their role in patient selection and clinical decision-making.
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7. Forby L, Porto GG, Kingstone A. Mind wandering during five minutes of rest: Autistic traits, visual thought, and thinking about others. Acta Psychol (Amst). 2025; 261: 105746.
Neurotypicals mind wander between 20% and 50% of their waking hours, during which they engage in mental tasks such as problem-solving, planning, mulling current concerns, and self-reflection. Despite extensive literature dedicated to mind wandering (MW) in neurotypicals, very little is known about what Autistic individuals or those high in autistic traits might think about while MW. Also unclear is whether they are predisposed to thinking in visual rather than verbal form. To investigate the effects of autistic traits on MW, we asked 92 participants to sit in a quiet room for five minutes with their eyes closed. Following the resting period, participants completed the 10-item Autism quotient (AQ-10) and the Amsterdam Resting-State Questionnaire (ARSQ), which measures 10 factors of MW. The ARSQ factor Theory of Mind (ToM-A) was modestly and negatively correlated with AQ-10 score, driven by fewer reports of thinking about others. Notably, neither correlational nor group-level analyses provided evidence that autistic traits were linked with placing oneself in others’ shoes or Visual Thought. For both high and low AQ-10 scorers, Bayesian analyses indicated extreme evidence for a positive correlation between thinking about others and Visual Thought, and moderate evidence for a positive correlation between thinking about others and thinking about the self. These exploratory findings contribute to the limited literature on MW content in individuals high in autistic traits and provide directions for future research with larger, more diverse samples.
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8. Hallmayer JF, O’Hara R. Sleep in Autism Spectrum Disorder: From Foundations to Frontiers. J Autism Dev Disord. 2025.
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9. Hanson KL, Avino T, Taylor SL, Murray KD, Schumann CM. Age-related differences in axon pruning and myelination may alter neural signaling in autism spectrum disorder. Mol Autism. 2025; 16(1): 53.
BACKGROUND: Neuronal connectivity is refined throughout development by the proliferation and pruning of axons in cerebral white matter, and progressive axon myelination that enables rapid communication across brain regions. Differences in connectivity have been observed in autism spectrum disorder (ASD), including changes in white matter volume and connectivity. In the prefrontal cortex, this includes imbalances between short- and long-ranging axons, consistent with a pattern of local hyperconnectivity, and long-range hypoconnectivity. Alterations in temporal lobe white matter development-critical for social behavior-may contribute to atypical neural connectivity. METHODS: We used electron microscopy to analyze 54 samples of temporal lobe white matter from 27 age-matched postmortem brains from males with ASD and neurotypical (NT) controls, ages 2-44 years. Defined regions of superficial (SWM) and deep (DWM) white matter were sampled from superior temporal (STG) and fusiform (FG) gyri. Axon density and myelin thickness were quantified, with axon size classified by inner diameter, to evaluate age-related differences between ASD and neurotypical brains. RESULTS: In neurotypical control brains, total axon density significantly decreases with age in both STG and FG SWM. Although ASD cases show a similar trend, the density of small axons in STG is significantly higher than in controls. However, FG SWM in ASD shows no significant change in small-diameter axon density with age in this region. In neurotypical brains, myelin thickness of large-diameter axons increases significantly with age in STG and FG SWM. In contrast, large-diameter axons in ASD display significantly thinner myelin sheaths than controls across both STG and FG regions. CONCLUSIONS: The temporal lobe exhibits atypical patterns of white matter development in ASD. In neurotypical individuals, decreased axon density in SWM with age reflects effective neural pruning and refinement of local and short-range connectivity. In contrast, individuals with ASD maintain a high density of small-diameter axons in STG SWM, suggesting reduced pruning that results in local overconnectivity. Moreover, myelin thickness in SWM does not increase with age in ASD, implying reduced efficacy of neurotransmission. These alterations in white matter ultrastructure may contribute to the atypical connectivity and neural communication observed in ASD across the lifespan.
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10. Helvaci HI, Cheung SS, Chuah CN, Ozonoff S. LOCALIZING MOMENTS OF ACTIONS IN UNTRIMMED VIDEOS OF INFANTS WITH AUTISM SPECTRUM DISORDER. Proc Int Conf Image Proc. 2024; 2024: 3841-7.
Autism Spectrum Disorder (ASD) presents significant challenges in early diagnosis and intervention, impacting children and their families. With prevalence rates rising, there is a critical need for accessible and efficient screening tools. Leveraging machine learning (ML) techniques, in particular Temporal Action Localization (TAL), holds promise for automating ASD screening. This paper introduces a self-attention based TAL model designed to identify ASD-related behaviors in infant videos. Unlike existing methods, our approach simplifies complex modeling and emphasizes efficiency, which is essential for practical deployment in real-world scenarios. Importantly, this work underscores the importance of developing computer vision methods capable of operating in naturilistic environments with little equipment control, addressing key challenges in ASD screening. This study is the first to conduct end-to-end temporal action localization in untrimmed videos of infants with ASD, offering promising avenues for early intervention and support. We report baseline results of behavior detection using our TAL model. We achieve 70% accuracy for look face, 79% accuracy for look object, 72% for smile and 65% for vocalization.
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11. Hoang T, Desai D. Dental Education on Autism Spectrum Disorder: A Collaboration With Occupational Therapy. J Dent Educ. 2025.
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12. Iwabuchi T, Hirai T, Umeda N, Yogo H, Nishimiya Y, Nishigaki Y, Watanabe M, Yamasue H, Tsujii M, Tsuchiya KJ, Matsuzaki H. Specific Association Patterns Between Brain Glutathione Levels, Myelination, and Functional Connectivity in Adults With Autism Spectrum Disorder. Autism Res. 2025.
Recent studies have implicated oxidative stress in the pathophysiology of autism spectrum disorder (ASD). Postmortem brain studies have revealed decreased levels of the reduced form of glutathione (GSH), an important antioxidant, in some brain regions in individuals with ASD; however, in vivo evidence is lacking. Using proton magnetic resonance spectroscopy, T(1)-weighted/T(2)-weighted ratio-derived myelin maps, resting-state functional magnetic resonance imaging (MRI), and cognitive tasks, we examined whether brain GSH levels are lower in individuals with ASD than in those with typical development (TD) and explored ASD-specific association patterns between brain GSH levels, myelination, functional connectivity, and behavioral characteristics. Data from 30 adults with ASD and 27 adults with TD were analyzed. Contrary to our hypothesis, GSH levels in the left temporoparietal junction (TPJ) were higher in the ASD group than in the TD group. Using individual myelin maps, we found a significant group difference in the correlation between left middle frontal gyrus (MFG) myelination and left TPJ GSH levels. Multivariate pattern analysis of resting-state functional MRI revealed that whole-brain functional connectivity patterns from the left MFG differed between the groups in their association with left MFG myelination. Finally, we found a significant group difference in the correlation between emotion recognition ability and the functional connectivity of the left MFG with the bilateral occipitoparietal junction. In conclusion, our findings demonstrate an ASD-specific pattern of associations between left TPJ GSH levels, left MFG myelination, whole-brain functional connectivity patterns of the left MFG, and cognitive phenotype, which suggests compensatory neural mechanisms in ASD.
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13. Kallitsounaki A, Fysh MC, Williams DM, Spinner L, Kennedy E. Implicit and explicit gender identification in autistic and nonautistic gender clinic-referred youth, and their caregivers. Eur Child Adolesc Psychiatry. 2025.
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14. Kaufmann WE, Horn PS, Budimirovic DB, Harris HK, Lozano R. Relationship Between Intellectual Disability and Behavioral Comorbidity in Children With Fragile X Syndrome. J Autism Dev Disord. 2025.
PURPOSE: Fragile X syndrome (FXS) presents with variable cognitive and neurobehavioral abnormalities. We recently reported clinically relevant behavioral subtypes in children with FXS based on a latent class analysis (LCA), which suggested an association between level of intellectual disability (ID) and frequency of co-occurring behavioral conditions. The present study further investigated ID-behavioral comorbidity associations in the same subject sample. METHODS: We analyzed the large (1,072 males, 338 females) pediatric FORWARD clinic-based natural history study database, using multiple statistical techniques including chi-square analyses, polyserial correlations, regression analyses, and LCA. RESULTS: We demonstrated that frequency of irritability/agitation, aggression, and self-injury (IAAS), autism spectrum disorder (ASD), hypersensitivity and, to lesser extent, perseverative behavior (OCD-like) are a function of ID level across the range of FXS clinical severity. With exception of IAAS, these associations were further supported by correlations between ID levels and scales shown to represent the aforementioned behavioral comorbidities. CONCLUSION: The ID-behavioral comorbidity associations reported here could help in the identification and management of problematic behaviors in individuals with FXS and other ID-associated disorders.
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15. Lasorsa F, Ditonno P, Lucarelli G. Comment on: « The current role of photodynamic diagnosis (PDD) in the management of non-muscle invasive bladder cancer: the Italian Society of Urology (SIU) Position Paper ». Minerva Urol Nephrol. 2025; 77(5): 718-20.
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16. LeGrand K, Parish-Morris J, Naigles LR. Longitudinal Analyses of Early Verb Production in Autism Spectrum Disorder. J Autism Dev Disord. 2025.
PURPOSE: Verb production in childhood predicts language outcomes in adulthood for individuals on the autism spectrum, but few studies have investigated early verb production in ASD, and methodological differences have led to conflicting results. Thus, the purpose of this study was to explore development of verb production in children with autism spectrum disorder (ASD) and typically developing (TD) children. METHODS: We analyzed verb production via language samples from 67 children (N(ASD) = 32; N(TD) = 35) during parent-child play. RESULTS: We found that verb production increased over time in both the ASD and TD groups, but the TD group increased at a faster rate. However, latent class analysis of verb trajectories yielded three profiles of verb development, the lowest of which consisted entirely of children with ASD and was driving the group difference. We also found that longitudinal analysis can contribute to our understanding of verb development: our latent class analysis of trajectories revealed more nuance than a single-datapoint clustering method, and early verb vocabulary growth predicted later language outcomes for children with ASD. CONCLUSION: Our results suggest that while some children with ASD experience persistent challenges in verb vocabulary growth, others demonstrate similar verb growth to their TD peers. Future work will investigate early factors that differentiate children whose verb production progresses from children whose verb production stays constant over time.
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17. Liu P. Attention-Dependent but not Pre-attentive Neural Markers of Auditory Change Process are Atypical in Adults With Autism Spectrum Conditions. J Autism Dev Disord. 2025.
PURPOSE: Efficiently processing auditory changes in dynamic environments is essential for adaptive functioning. Although individuals with Autism Spectrum Conditions (ASC) often exhibit atypical sensory profiles, the neural mechanisms underlying auditory change processing remain inconclusive. This study investigated neural dynamics in ASC at two distinct stages: the pre-attentive stage and the attention-dependent stage. METHODS: Using the local-global paradigm with non-speech complex sounds, we examined hierarchical auditory change processing in 20 autistic and 21 non-autistic adults. This paradigm enables the dissociation of pre-attentive and attention-dependent stages by manipulating local (short-timescale) and global (long-timescale) auditory regularities. Local-level changes elicited the MMN, reflecting pre-attentive processing, whereas global-level changes elicited the P3b, indexing attention-dependent contextual updating. In addition to event-related potentials (ERPs), we examined time-frequency representations (TFRs) to assess theta- and delta-band oscillations linked to memory and attentional processes. RESULTS: At the local level, ASC individuals showed comparable MMN amplitudes and frontocentral theta oscillations compared to non-autistic individuals, suggesting preserved pre-attentive mechanisms. At the global level, they exhibited reduced P3b amplitude and decreased delta activity, indicating altered attention-dependent processing. CONCLUSION: These findings reveal a stage-specific dissociation in auditory change processing in autism, with selective alterations in attention-dependent neural responses requiring sustained attention and contextual updating. Beyond their theoretical significance, these alterations may serve as candidate neurophysiological markers of attention-related atypicalities in ASC, with potential applications in educational practices and cognitive assessments in attentionally demanding contexts.
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18. M YIB. The impact of mindfulness-based intervention on repetitive and stereotypical behaviors in children with autism spectrum disorder. Appl Neuropsychol Child. 2025: 1-7.
OBJECTIVES: The aim was to investigate the impact of mindfulness-based intervention on repetitive and stereotypical behaviors in children with autism spectrum disorder (ASD). METHODS: This study is a quasi-experimental pretest-post-test design with a control group, in which the effect of a mindfulness-based intervention program on the level of stereotypical behaviors of children with ASD is examined. Children with ASD aged 7 to 12 who were receiving education and services in special centers for children with ASD in Jeddah in 2024-2025. To select the sample group, two of the autism centers in Jeddah were referred, and 60 children from the center were selected using purposive sampling and randomly divided into two groups of 30 experimental and 30 control subjects. In the study, covariance analysis (ANCOVA) was used. RESULTS: The results showed that the mindfulness-based intervention program was effective on all subscales of stereotypical behaviors of children with ASD. CONCLUSIONS: These findings suggest great promise for the use of mindfulness-based intervention with students with ASD to improve their stereotypical behaviors.
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19. Mahmić-Kaknjo M, Andabaka T, Radić M, Vučić V, Košćak V, Čaić B, Žuža Praštalo M, Veselinović A, Pokimica B, Ristić Medić D, Međaković J, Runjić E, Prevendar T, Jeličić Kadić A, Hrkać A, Čivljak A, Čivljak M, Matić I, Zorčec T, Puljak L. Assessing the reporting quality of educational interventions in trials on caregiver education for children with developmental disabilities using the GREET checklist: a meta-research study. BMC Med Res Methodol. 2025; 25(1): 235.
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20. McKinney WS, Nelson M, Shaffer RC, Dominick KC, Erickson CA, Schmitt LM. Brief Report: Differences Between Stanford-Binet Abbreviated and Full-Scale Estimates of IQ in Fragile X Syndrome Vary Across Development. J Autism Dev Disord. 2025.
PURPOSE: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and single-gene cause of autism. The Stanford-Binet, Fifth Edition (SB-5) is commonly used to assess IQ in FXS. It is not known if the SB-5 routing form’s abbreviated IQ (ABIQ) score accurately estimates full-scale IQ (FSIQ), limiting data-informed decision-making when choosing between an abbreviated or full SB-5 battery. METHODS: 198 participants with FXS (143 males) aged 4 to 47 years of age completed the full SB-5. We calculated differences between abbreviated and full-scale estimates of IQ and assessed the extent to which the agreement between ABIQ and FSIQ varied as a function of age, routing subtest scatter, and FSIQ. RESULTS: The abbreviated SB-5 battery over-estimated FSIQ in most school-age children (< 11 years), and under-estimated FSIQ in adolescents and adults. This under-estimate of FSIQ was larger when there was a greater discrepancy (scatter) between the two routing subtests that comprise ABIQ and in individuals with FSIQ < 68. CONCLUSION: Clinicians and researchers should consider administering the full SB-5 battery to individuals with FXS when possible. If only an abbreviated estimate of IQ is available, ABIQ should be interpreted with caution based on our findings of over- or under-estimation occurring across development. Large discrepancies between verbal and nonverbal skills as well as greater severity of ID should both serve as cues to administer the full battery to avoid under-estimating cognitive skills that are otherwise only captured by FSIQ.
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21. Nguyen C, Broersma EH, Warden AS, Mora C, Han CZ, Keulen Z, Spann N, Wang J, Ramirez G, Mak S, Trescott S, Khakpour M, Johnson A, Qureshi F, La Frano MR, Mohajeri K, Talkowski ME, Corradin O, Tremblay M, Glass CK, Coufal NG. Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease. Nat Immunol. 2025.
MEF2C encodes a transcription factor that is critical in nervous system development. Here, to examine disease-associated functions of MEF2C in human microglia, we profiled microglia differentiated from isogenic MEF2C-haploinsufficient and MEF2C-knockout induced pluripotent stem cell lines. Complementary transcriptomic and functional analyses revealed that loss of MEF2C led to a hyperinflammatory phenotype with broad phagocytic impairment, lipid accumulation, lysosomal dysfunction and elevated basal inflammatory cytokine secretion. Genome-wide profiling of MEF2C-bound sites coupled with the active regulatory landscape enabled inference of its transcriptional functions and potential mechanisms for MEF2C-associated cellular functions. Transcriptomic and epigenetic approaches identified substantial overlap with idiopathic autism datasets, suggesting a broader role of human microglial MEF2C dysregulation in idiopathic autism. In a mouse xenotransplantation model, loss of MEF2C led to morphological, lysosomal and lipid abnormalities in human microglia in vivo. Together, these studies reveal mechanisms by which reduced microglial MEF2C could contribute to the development of neurological diseases.
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22. Nyrenius J, Zander E, Ghaziuddin M, Ghaziuddin N. Co-occurrence of Autism, Psychosis and Catatonia: A Scoping Review. J Autism Dev Disord. 2025.
PURPOSE: Autism, psychosis and catatonia were once considered part of schizophrenia. While both autism and catatonia have been « detached » from schizophrenia, co-occurrence of the three conditions may be suspected in some cases, because of overlapping features, leading to challenges in diagnosis and treatment. This review provides an overview of the literature regarding the co-occurrence of autism, psychosis and catatonia. METHODS: A scoping review of peer-reviewed original research articles that simultaneously described all the three diagnostic constructs (autism, psychosis and catatonia) was performed. Using PRISMA-ScR guidelines, the review was based on MedLine, Scopus, PsycInfo and Cinahl databases. Studies included patients of all ages, races and both genders. A Qualitative Content Analysis (QCA) of the contents of the articles was also performed. RESULTS: Seventeen articles (n = 17) out of a total of 752 (after removing duplicates) met inclusion criteria, most of which (65%) were case reports/case series. Overall, majority of the studies lacked description of diagnostic procedures regarding psychosis – especially while describing co-occurrence of psychosis and catatonia in patients with autism. Reports of treatment outcomes showed considerable variations. Major themes identified in the QCA involved uncertainty, particularly in the differential diagnostic and treatment considerations. CONCLUSION: The results of this scoping review underscore a need for undertaking larger studies using structured diagnostic approaches for developing better methods to differentiate between autism, psychosis and catatonia. Our findings also point to a need for conducting treatment trials and developing treatment algorithms for mixed presentations when there is co-occurrence of autism, psychosis and catatonia.
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23. Pagán AF, Loveland KA, Acierno R. Navigating Two Worlds: The Impact of Cultural Values and Acculturative Stress on Social Cognition in Latino Individuals With Autism Spectrum Disorder. J Autism Dev Disord. 2025.
PURPOSE: This exploratory study investigated links between social cognition, acculturation, and cultural values in Latino young adults with ASD and examined social cognition score changes after the ¡Iniciando! la Adultez intervention. METHODS: Fifty-six Latino young adults with ASD completed pre-intervention measures; forty participated in the intervention. They completed the Edinburgh Social Cognition Test (ESCoT) and cultural questionnaires at baseline. A subset of 27 participants completed the post-intervention ESCoT. RESULTS: ESCoT scores did not significantly improve post-intervention. Participants reported moderate acculturative stress, low U.S. acculturation, and strong beliefs in familism and respect. Higher scores on independence/self-reliance positively correlated with ESCoT scores post-intervention. Other cultural variables showed no clear relationship with social cognition. CONCLUSION: Findings suggest a link between autonomy and social cognition, supporting self-determination theories. The intervention’s short duration may explain the lack of ESCoT improvement. While the ESCoT did not seem biased against traditional Latino values, its basis in mainstream American norms may influence results, warranting further research with diverse groups. Future studies should explore integrating cultural values into interventions to improve outcomes. This research emphasizes that culturally tailored interventions promoting autonomy may better enhance social skills for Latino young adults with ASD.
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24. Roth-Hanania R. Empathy Development: Typical and Atypical Tracks, From Infancy to Early Childhood. Infancy. 2025; 30(5): e70049.
Empathy, a cornerstone of human social functioning, begins its developmental journey early in life, shaped by a complex interplay of neurobiological, emotional, cognitive, and social influences. This article offers a comprehensive review of the typical and atypical developmental pathways of empathy from infancy to early childhood. Challenging traditional models that positioned empathy’s emergence in toddlerhood, recent evidence suggests that early markers of empathic concern and cognitive understanding of others’ distress are observable as early as the first year of life. The review highlights how neurobiological maturation, emotion regulation, and early caregiver-infant interactions converge to support the development of empathy. It also examines how deviations from typical trajectories-such as in autism spectrum disorder (ASD)-manifest as early deficits in social attention, emotional sharing, and prosocial behavior. Identifying prodromal markers of ASD through impairments in empathy manifested in young infants’ responses to distress, the article underscores the critical role of early detection and intervention in mitigating long-term socio-emotional challenges. By bridging developmental science and clinical research, this review highlights the significance of empathy as both a developmental milestone and a diagnostic lens for understanding early socio-emotional dysfunctions. Fostering empathy development is proposed as a crucial factor in promoting adaptive social outcomes across diverse developmental profiles.
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25. Sasaki M, Kocha H. How did Leo Kanner distinguish early infantile autism from childhood schizophrenia?. Hist Psychiatry. 2025: 957154×251371358.
Since the 2000s, the prevalence of autism spectrum disorder (ASD) has increased, and the diagnosis of ASD has become heterogeneous. Recently, some researchers have begun to regard ASD as a form of neurodiversity rather than a medical disorder. In this article, we re-examine the establishment process of early infantile autism, as reported by Leo Kanner, and place the current debate in a historical context. An essential issue for Kanner was differentiating early infantile autism from childhood schizophrenia, but what made this difficult was the changing concept of schizophrenia over time. We consider how this affected Kanner’s arguments and how it relates to the current autism debate.
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26. Segura P, Pagani M, Bishop SL, Thomson P, Colcombe S, Xu T, Factor ZZ, Hector EC, Kim SH, Lombardo MV, Gozzi A, Castellanos XF, Lord C, Milham MP, Di Martino A. Connectome-based symptom mapping and in silico related gene expression in children with autism and/or attention-deficit/hyperactivity disorder. Mol Psychiatry. 2025.
Clinical, neuroimaging and genomics evidence have increasingly underscored a degree of overlap between autism and attention-deficit/hyperactivity disorder (ADHD). This study explores the specific contribution of their core symptoms to shared biology in N = 166 verbal children (6-12 years) with rigorously-established primary diagnoses of either autism or ADHD (without autism). We investigated the associations between inter-individual differences in low motion whole-brain intrinsic functional connectivity (iFC) and dimensional measures of autism and ADHD symptoms indexed by clinician-based observation and parent interview, respectively. Additionally, we explored their linked gene expression patterns in silico. Whole-brain multivariate distance matrix regression revealed a transdiagnostic association between autism severity and iFC of two nodes primarily on the left hemisphere: the middle frontal gyrus of the frontoparietal network and the posterior cingulate cortex of the default mode network. Across children, the greater the iFC between these nodes, the more severe the autism symptoms, even after controlling for ADHD ratings. Results from secondary segregation analyses were consistent with primary findings, underscoring the significance of internetwork iFC for autism symptom severity across diagnoses. No statistically significant brain-behavior relationships were observed for ADHD symptoms. Genetic enrichment analyses of the iFC maps associated with autism symptoms implicated genes known to: (i) have greater rate of variance in autism and ADHD, and (ii) be involved in neuron projections, suggesting shared genetic mechanisms for this specific brain-clinical phenotype. These findings underscore the relevance of transdiagnostic dimensional approaches in linking clinically-defined and observation-based phenomena to shared presentations at the macroscale circuit- and genomic-levels across diagnoses.
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27. Spielman B, Bagnall-Moreau C, Chen F, Balvuena C, Cruz C, Carrion J, Vo A, Arazi A, Brimberg L. Captopril restores microglial homeostasis and reverses ASD-like phenotype in a model of ASD induced by exposure in utero to anti-caspr2 IgG. Mol Psychiatry. 2025.
Microglia play a crucial role in brain development, including synaptic pruning and neuronal circuit formation. Prenatal disruptions, such as exposure to maternal autoantibodies, can dysregulate microglial function and contribute to neurodevelopmental disorders like autism spectrum disorder (ASD). Maternal antibodies targeting the brain protein Caspr2, encoded by ASD risk gene Cntnap2, are found in a subset of mothers of children with ASD. In utero exposure to these antibodies in mice leads to an ASD-like phenotype in male but not in female mice, characterized by altered hippocampal microglial reactivity, reduced dendritic spine density, and impaired social behavior. Here, we studied the role of microglia in mediating the effect of in utero exposure to maternal anti-Caspr2 antibodies and whether we can ameliorate this phenotype. In this study we demonstrate that microglial reactivity emerges early in postnatal development and persists into adulthood following exposure in utero to maternal anti-Caspr2 IgG. Captopril, a blood-brain barrier permeable angiotensin-converting enzyme (ACE) inhibitor, but not enalapril (a non-BBB permeable ACE inhibitor) ameliorates these deficits. Captopril treatment reversed microglial activation, restored spine density and dendritic arborization in CA1 hippocampal pyramidal neurons, and improved social interaction. Single-cell RNA sequencing of hippocampal microglia identified a captopril-responsive subcluster exhibiting downregulated translation (eIF2 signaling) and metabolic pathways (mTOR and oxidative phosphorylation) in mice exposed in utero to anti-Caspr2 antibodies treated with saline compared to saline-treated controls. Captopril reversed these transcriptional alterations, restoring microglial homeostasis. Our findings suggest that exposure in utero to maternal anti-Caspr2 antibodies induces sustained neuronal alterations, microglial reactivity, and metabolic dysfunction, contributing to the social deficits in male offspring. BBB-permeable ACE inhibitors, such as captopril, warrant further investigation as a potential therapeutic strategy in a subset of ASD cases associated with microglial reactivity.
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28. Suominen EH, Chen CA, Dunlop A, Saunders R, Mandy W. Sex/Gender Differences in Internalizing Problems of Autistic Children and Young People: A Systematic Review and Meta-Analysis. J Am Acad Child Adolesc Psychiatry. 2025.
OBJECTIVE: Findings on the presence and direction of a sex/gender difference in internalizing problems for autistic children and young people (CYP) are inconsistent. This systematic review investigated whether autistic boys and girls differ in internalizing problem severity. METHOD: Studies comparing internalizing problems (including depression and anxiety) in autistic boys and girls using validated, continuous measures were included. We searched Medline, Embase, PsycINFO, ASSIA and Web of Science. The Joanna Briggs Institute appraisal checklist for cross-sectional studies was used to assess risk of bias. Random-effects meta-analyses estimated effect size differences for (1) overall internalizing, (2) anxiety symptoms and (3) depression symptoms between autistic boys and girls. Moderation effects of age, IQ, and study methodology were examined through meta-regression. RESULTS: We identified 56 studies from 4,093 non-duplicate records (N= 13,410 autistic CYP, girls n=3,657, boys n=9,753). Autistic girls experienced more anxiety symptoms than boys (g= 0.13 [0.03; 0.23], p=0.015). This effect was larger in community (versus clinic) samples (β=0.22, p=0.027), and in samples with higher average age (β= 0.037, p=0.014) and IQ (β=0.013, p=0.013). Autistic girls also showed higher overall internalizing (g=0.10[-0.04; 0.23], p= 0.148) and depression symptoms (g=0.12[-0.01; 0.25], p=0.067), but these differences did not reach significance. Heterogeneity for all pooled sex/gender differences was high. CONCLUSION: In autistic CYP, girls show more anxiety symptoms than boys, and this is most pronounced in older girls and those with higher IQ. We did not find strong evidence for sex/gender differences in overall internalizing problems or depression symptoms. However, the high heterogeneity cautions against drawing conclusions with certainty.
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29. Tang Y, Lin Q, Yu Y, Chen D. EEG super-resolution with Laplacian Regularized Coupled Matrix Decomposition: A case study of Autism Spectrum Disorder EEG enhancement. Artif Intell Med. 2025; 170: 103284.
EEG Super-resolution (SR) has attracted increasing attention for neuroscience research when fine-grained spatial information is demanding. However, existing SR methods are subject to the performance bottlenecks due to insufficient high-resolution EEG under the condition of few participants undergoing high-density EEG acquisition and unclear intrinsic spatiotemporal relationship amongst EEG channels on the scalp. To tackle the issues, this study proposes a Laplacian Regularized Coupled Matrix Decomposition (LRCMD) model for EEG SR, which takes in HR EEG of a small amount of initial participants and generates HR EEG from the given LR counterparts of new participants: (1) LRCMD first utilizes a Gaussian kernel function according to the spatial distribution of electrodes conforming to a 3-D scalp model to measure the brain structural connectivity amongst EEG channels, (2) Coupled matrix decomposition model is established to transform the HR EEG and the corresponding LR ones to latent source space with common mapping rule, where brain structural connectivity acts as Laplacian regularization to highlight the core mapping rule, (3) LRCMD applies Alternating Direction Method of Multipliers solver to cope with the decomposition model and derive the mapping matrix along with latent source of HR EEG, which are later leveraged to complete the SR reconstruction of LR EEG from new participants. Experimental results on ASD EEG dataset indicate that (1) LRCMD excels in individual EEG super-resolution reconstruction with normalized mean squared error decreased by 2.14% and the improvements of signal-to-noise ratio, Pearson’s correlation coefficient respectively reaching 0.52 dB, 1.17%, and (2) the reconstructed EEG by LRCMD demonstrates superiority to LR alternative in ASD discrimination and functional connectivity analysis of ASD.
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30. Tromans SJ, Deb S, Mahmood H, Triantafyllopoulou P, Jamieson T, Gookey G, Bassett P, Malak Z, Sawhney I, Korb L, Adams D, Sheehan R, Shankar R. Psychiatrists and non-psychiatrists’ attitudes to psychotropic optimisation for people with intellectual disabilities and/or autism: cross-sectional comparison study. BJPsych Open. 2025; 11(6): e249.
BACKGROUND: Off-licence psychotropic use in people with intellectual disability and/or autism, in the absence of psychiatric illness, is a major public health concern in England. AIMS: To ascertain and compare views of psychiatrists and non-psychiatrists working with people with intellectual disability and/or autism on psychotropic medication optimisation for this population. METHOD: A cross-sectional survey of 13 questions was disseminated online among psychiatrists and other health professionals working with people with intellectual disability and/or autism across England, using a non-discriminatory exponential snowballing technique leading to non-probability sampling. The questionnaire covered demographic characteristics, perceived barriers/benefits of psychotropic optimisation (including ethnicity) and views on implementation of a national medicine optimisation programme. Quantitative analysis used chi-squared, Mann-Whitney and unpaired t-tests, with significance taken as P < 0.05. Thematic analysis of free-text responses was undertaken with Braun and Clarke's methodology. RESULTS: Of 219 respondents, significant differences in attitudes to most issues emerged between psychiatrists (n = 66) and non-psychiatrists (n = 149). Psychiatrists had less optimism of a successful national medication optimisation programme if commissioned, or achieving 50% reduction in psychotropic overprescribing and inappropriate psychotropic prescribing generally. Perceived barriers to reducing overmedication differed significantly between the psychiatrists and non-psychiatrists, Thematic analysis identified five themes (system issues, resources, medication challenges, family and carers, and training and alternatives/structure). CONCLUSIONS: This is the first study to highlight important differences between psychiatrists and non-psychiatrists' attitudes to psychotropic optimisation despite respondents overall being broadly supportive of its need. A major finding is the hitherto unquantified concerns of patient ethnicity and its impact on psychotropic optimisation principles.
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31. Wein PY. The definition and measurement of autistic identity when studying eating disorder symptoms. Autism. 2025: 13623613251383347.
While the Bradley et al. paper brought up an interesting question regarding the relationship between autistic identity and eating disorders, there are concerns with the assumptions and design of this study. This article concludes that autistic identity has no connection to potential eating disorder symptom severity. However, the psychometric tool used, the Social Identity Scale, is missing key aspects of autistic identity found in other tools. In addition, the tool used is not validated in autistic adults.Lay AbstractA recent paper by Bradley et al. concluded that there is no relationship between autistic identity and eating disorder symptoms. However, the survey tool used to assess autistic identity of its participants did not include key components needed to arrive at this conclusion. Variations of autistic identity that would need to be considered are manifold. Some of these facets to consider in a survey assessing autistic identity would be whether or not autism is a source of pride, traits are thought to be steadfast or changeable, stigma is felt, and whether they should perform camouflaging behavior. This is important because eating disorder symptoms can be affected by these differences. For example, changeability and autistic pride have been thought to affect eating disorder symptoms. This research can be accomplished through other psychometrically validated surveys such as the Autism Spectrum Identity Scale, which include these features in the survey development. So, the Autism Spectrum Identity Scale or like measure would need to be used before reaching the conclusion of this recent Bradley et al. paper. In addition, the Social Identity Scale used in the Bradley et al. paper has not been validated in an autistic adult sample, which makes it not the ideal survey for the research question as well.
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32. Weiss JA, Modica PT, Gallant C, Roudbarani F, Weaver C, Bouma A, Goldsmith L, Leef J, Lunsky Y. Co-creating a Canadian autism mental health literacy resource: a qualitative analysis of advisory perspectives. Health Res Policy Syst. 2025; 23(1): 140.
BACKGROUND: Autistic adults experience disproportionately high rates of mental health challenges and encounter substantial barriers to care. While initiatives aimed at improving mental health literacy (MHL) offer one strategy for addressing these disparities, the processes through which such initiatives are co-produced with autistic adults and caregivers remain underexplored. Co-production – the collaborative development of resources or knowledge between researchers and community members – can enhance the relevance, authenticity, and impact of health initiatives. The central aim of this study was to understand how autistic adults and caregivers experienced their involvement in the co-production of an applied health research initiative. To inform future initiatives, there is a need to understand stakeholder experiences of the co-production process. METHODS: This study examined the experiences of stakeholders engaged in the co-production of a Canadian MHL resource for autistic adults and their families. Although the context of the project focused on MHL, the central aim was to understand how autistic adults and caregivers experienced their involvement in the co-production process. Semi-structured interviews were conducted with 24 autistic adults and caregivers who served as advisors in the Autism Mental Health Literacy Project (AM-HeLP). A reflexive thematic analysis approach was used to identify key experiential themes related to their involvement. RESULTS: A thematic analysis identified four main stakeholder experience themes: (1) the elements of co-production, (2) the collaboration process, (3) insights gained and (4) emotional impact of involvement. CONCLUSIONS: These findings highlight the critical importance of intentional, inclusive and trauma-informed co-production practices in applied health research. They offer practical guidance for researchers, service providers and policymakers seeking to authentically engage autistic adults and families in the development of health-related resources. Supporting equitable partnerships with autistic adults and caregivers is essential to advancing responsive and person-centred health policy and practice.
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33. Wu R, Luo X, He Z, Meng Z, Tang W, Liang L. Predicting the diagnostic efficacy of trio-based whole exome sequencing in children with low-function autism spectrum disorders: a multicenter study. Front Neurol. 2025; 16: 1597588.
BACKGROUND: Although significant progress has been made in trio-based whole-exome sequencing (trio-WES) that enables the detection of exon-level variants, the diagnostic effectiveness of empirical and unselected use of trio-WES in children with low-function autism spectrum disorders (LF-ASDs) remains unsatisfactory. Thus, the identification of an appropriate approach for predicting the diagnostic efficacy of trio-WES at the pre-diagnosis stage is essential for implementing individualized diagnosis for children with LF-ASDs. METHODS: A total of 168 LF-ASDs patients who underwent trio-WES at Sun Yat-sen Memorial Hospital from September 2016 to December 2022 were enrolled as the training set. Additionally, 58 LF-ASDs patients who received trio-WES at Weierkang Children’s Rehabilitation Center between January 2023 and December 2023 were recruited as an independent external validation set. Univariate and multivariate binary logistic analyses were performed on the training set to select phenotypic variables to establish a nomogram. The discriminative performance of the model was evaluated using receiver operating characteristic (ROC) curves and calibration curves. Furthermore, the nomogram was validated in external validation sets. RESULTS: Univariate and multivariate analyses identified independent trio-WES diagnosis-related predictive indicators, including severity of global developmental delay/intellectual disability, complexity of neurodevelopmental/neurological comorbid conditions, head circumference abnormalities, and brain malformations, in the training cohort and used to develop a nomogram. The nomogram showed excellent discrimination performance, with an area under curve (AUC) of the ROC in the training cohort of 0.868 (95% CI: 0.811-0.925), resulting in sensitivity, specificity, accuracy, precision, and F1 score values of 85.56, 82.05, 83.93, 84.62%, and 0.85, respectively. The model also exhibited strong prediction ability in the external validation set (AUC: 0.941, 95% CI: 0.880-0.998; sensitivity: 85.29%; specificity: 91.67%; accuracy: 87.93%; precision: 93.55%; and F1 score: 0.89). Moreover, the calibration curves demonstrated good agreement between the nomogram predictions and actual observations in both training and validation sets. CONCLUSION: We developed an user-friendly and highly accurate model for predicting the diagnostic probability of trio-WES in LF-ASDs children, which could help implement an individualized diagnostic strategy for affected children and their families at the pre-diagnosis stage.
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34. Yang SC, Lin LY. Sleep disturbances, sensory processing difficulties, and emotional dysregulation in preschool children with autism spectrum disorder. Sleep Med. 2025; 136: 106872.
Sensory sensitivity and avoidance may contribute to sleep disturbances in preschool children with autism spectrum disorder (ASD) through elevated emotional dysregulation. While these interrelations have been documented in Western populations, little is known about their manifestation in East Asian cultural contexts. This study examined the relationships among sensory processing difficulties, emotional dysregulation, and sleep disturbances in Taiwanese preschoolers with ASD. Fifty children (40 boys, 10 girls; mean age = 55 months) were assessed using caregiver-reported questionnaires and seven nights of actigraphy. Objective actigraphy data showed that Taiwanese preschool children with ASD sleep 493 min per night (8.2 h), which is approximately 107 min less than the American Academy of Sleep Medicine guideline. Subjective caregiver reports indicated high prevalence rates of sleep disturbances (98 %), sensory sensitivity (82 %), sensory avoidance (84 %), and emotional dysregulation (66 %). Greater sensory processing difficulties were associated with more severe caregiver-reported sleep problems and higher emotional dysregulation, while objective actigraphy measures did not show significant associations with emotional dysregulation. Mediation analyses using subjective caregiver-reported data further revealed that emotional dysregulation significantly mediated the associations between sensory sensitivity/avoidance and sleep disturbances. These findings underscore the importance of integrating sensory-focused and emotional regulation strategies into sleep interventions for young autistic children, particularly in cultures where co-sleeping is normative.
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35. Zaikina V, Thorud HS, Rustad SF, Falkenberg HK. Systematic Literature Review: Indoor Lighting and Color Effects on Persons With ASD. Herd. 2025: 19375867251373096.
Aim: This systematic literature review, following the PRISMA statement, aims to review the knowledge of how the indoor lighting environment and color palettes impact individuals living with Autism Spectrum Disorders (ASD), particularly their behavior and lighting and/or color preferences. Background: A supportive built environment is crucial for persons with ASD. Lighting design (daylight and electrical lighting) and color schemes significantly impact their behavior, information processing, and overall well-being. Despite its importance, lighting design for autism has received limited attention in architecture and design research. Methods: A comprehensive search across seven electronic databases (PubMed, CINAHL, SveMed+, and four library databases including Oria, Regina, the British National Bibliography, and the Royal Danish Library), followed by a thorough review and critical appraisal, resulted in seven (7) high-quality studies with moderate to low risk of bias. Articles were assessed using three standardized checklists, for example, JBI Critical Appraisal Checklist for Analytical Cross-Sectional Studies, JBI Critical Appraisal Checklist for Qualitative Research, and Mixed Methods Appraisal Tool (MMAT). Conclusions: The findings are consistent with previous research and confirm that light and color influence ASD individuals’ behavior and sensitivity. However, there is a substantial gap in understanding practical applications, as most studies are descriptive or exploratory rather than experimental. Future research should emphasize experimental approaches to develop evidence-based guidelines for designers.