Pubmed du 21/04/25
1. Alfaro-Urrutia JE, Pérez-Godoy P. Curricular integration of augmentative and alternative communication for students on the autism spectrum in inclusive-oriented schools: A scoping review. Autism;2025 (Apr 21):13623613251333834.
Many students with autism spectrum condition who require augmentative and alternative communication systems attend inclusive-oriented schools, where it is expected that curricula support their preferred communication methods. While augmentative and alternative communication is recognized as an evidence-based practice, its integration within inclusive-oriented school curricula remains insufficiently understood. To address this gap, a scoping review was conducted in alignment with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, examining 34 studies on augmentative and alternative communication use in inclusive-oriented school settings for students with autism spectrum condition. The findings highlight limited teacher engagement, a variety of strategies, and an emphasis on communication skills, but leave a gap in understanding how inclusive-oriented schools employ augmentative and alternative communication to promote learning for autistic students. The review also addresses the restricted curricular integration of augmentative and alternative communication, noting that it is often implemented outside the classroom and primarily for social rather than academic purposes.Lay Abstracta. What is already known about the topic? It is well established that in inclusive-oriented schools, both the attitudes and training of teachers, as well as the accessibility of the learning environment, are crucial for the participation and success of individuals with autism. While practices like augmentative and alternative communication systems are used in these schools, their effectiveness is often contingent on the level of training and the time available to the professionals involved.b. What does this paper add? This article highlights that augmentative communication for individuals with autism in inclusive-oriented schools is not effectively integrated into the curriculum. Instead, it is mainly used for brief socialization activities, without proper evaluation, and with limited involvement from teachers.c. Implications for practice, research, or policy: The findings suggest the need for a more inclusive curriculum that incorporates augmentative and alternative communication systems, enabling them to be taught, assessed, and applied in a way that supports the learning of individuals with autism. This study examines how augmentative and alternative communication (AAC) systems are integrated into the curricula of inclusive-oriented schools for students with autism spectrum condition. Students with autism spectrum condition who use augmentative and alternative communication are increasingly attending inclusive-oriented schools, where a flexible curriculum to support their preferred means of communication is expected. However, few studies have examined the curricular integration of augmentative and alternative communication. In this review, which includes 34 studies on augmentative and alternative communication use in inclusive-oriented schools, we found limited teacher engagement with these tools and that, while there are varied strategies, they emphasize participation and communication skills over academic goals. This study highlights the need for better integration of augmentative and alternative communication into the curriculum so that students with autism spectrum condition can use augmentative and alternative communication for classroom learning. eng
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2. Andrade C. Autism Spectrum Disorder, 1: Genetic and Environmental Risk Factors. J Clin Psychiatry;2025 (Apr 14);86(2)
The global prevalence of autism spectrum disorder (ASD) has quadrupled during the past 3 decades; the reasons for this are many and include broadening of the diagnostic concept, increased awareness of the disorder, increased screening (including of adults and of girl children), and, possibly, increased exposure to environmental risk factors. This article examines genetic and especially environmental risk factors for ASD. Unsurprisingly, hundreds of potential genes have been identified, many of which overlap between ASD, schizophrenia, depression, and cardiometabolic disorders. Likewise, over a hundred environmental exposures have been associated with ASD risk. These include exposure to parental and family characteristics, exposure to maternal disorders arising during pregnancy, exposure to chronic maternal disorders present during pregnancy, exposure to fetal and other pregnancy-related problems/events, exposure to neonatal problems/events, exposure to maternal nutritional deficiencies during pregnancy, maternal exposure to substances during pregnancy, maternal exposure to pharmacological agents during pregnancy, in utero exposure to toxic substances, and early life exposure to toxic substances. Some of the risk factors identified may be causal, some may be markers of intermediary mechanisms, and some may be unrelated markers. About 40 of these risk factors have been confirmed in meta-analysis for association with ASD. Nearly 70 maternal diagnoses have also been associated with ASD, but, after correcting for false discovery error and shared risk, only 30 remain; and, of these 30, almost all may be explained by genetic and environmental risk factors shared between mother and child, judging from findings in discordant sibling pair and paternal negative control analyses. Caveats and nuances in the interpretation of risks are briefly discussed.
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3. Bourque VR, Schmilovich Z, Huguet G, England J, Okewole A, Poulain C, Renne T, Jean-Louis M, Saci Z, Zhang X, Rolland T, Labbé A, Vorstman J, Rouleau GA, Baron-Cohen S, Mottron L, Bethlehem RAI, Warrier V, Jacquemont S. Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children. JAMA Pediatr;2025 (Apr 21)
IMPORTANCE: Although early signs of autism are often observed between 18 and 36 months of age, there is considerable uncertainty regarding future development. Clinicians lack predictive tools to identify those who will later be diagnosed with co-occurring intellectual disability (ID). OBJECTIVE: To predict ID in children diagnosed with autism. DESIGN, SETTING, AND PARTICIPANTS: This prognostic study involved the development and validation of models integrating genetic variants and developmental milestones to predict ID. Models were trained, cross-validated, and tested for generalizability across 3 autism cohorts: Simons Foundation Powering Autism Research (SPARK), Simons Simplex Collection, and MSSNG. Autistic participants were assessed older than 6 years of age for ID. Study data were analyzed from January 2023 to July 2024. EXPOSURES: Ages at attaining early developmental milestones, occurrence of language regression, polygenic scores for cognitive ability and autism, rare copy number variants, de novo loss-of-function and missense variants impacting constrained genes. MAIN OUTCOMES AND MEASURES: The out-of-sample performance of predictive models was assessed using the area under the receiver operating characteristic curve (AUROC), positive predictive values (PPVs), and negative predictive values (NPVs). RESULTS: A total of 5633 autistic participants (4574 male [81.2%]) were included in this analysis. On average, participants were diagnosed with autism at 4 (IQR, 3-7) years of age and assessed for ID at 11 (8-14) years of age, with 1159 participants (20.6%) being diagnosed with ID. The model integrating all predictors yielded an AUROC of 0.653 (95% CI, 0.625-0.681), and this predictive performance was cross-validated and generalized across cohorts. This modest performance reflected that only a subset of individuals carried large-effect variants, high polygenic scores, or presented delayed milestones. However, combinations of genetic variants that are typically not considered clinically relevant by diagnostic laboratories achieved PPVs of 55% and correctly identified 10% of individuals developing ID. The addition of polygenic scores to developmental milestones specifically improved NPVs rather than PPVs. Notably, the ability to stratify ID probabilities using genetic variants was up to 2-fold higher in individuals with delayed milestones compared with those with typical development. CONCLUSIONS AND RELEVANCE: Results of this prognostic study suggest that the growing number of neurodevelopmental condition-associated variants cannot, in most cases, be used alone for predicting ID. However, models combining different classes of variants with developmental milestones provide clinically relevant individual-level predictions that could be useful for targeting early interventions.
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4. Buchwald K, Shepherd D, Siegert RJ, Vignes M, Landon J. Factors predicting parenting stress in the autism spectrum disorder context: A network analysis approach. PLoS One;2025;20(4):e0319036.
Elevated levels of parenting stress have been reported in parents raising an Autistic child. Previous studies have identified a multitude of predictors of parenting stress, including both child-related and parent-related factors, though findings across studies are not always in agreement. In the present study we investigate the determinants of parenting stress using a Network Analysis approach, which is then used to inform a subsequent structural equation model. New Zealand parents (n = 490) of a child diagnosed with Autism Spectrum Disorder (ASD) provided data on their Autistic child (e.g., ASD core symptoms, problem behaviours) and themselves (i.e., parenting stress). The analysis revealed that both child and parent demographic factors were poor predictors of parenting stress, while the child’s current language and communication ability were correlated with diagnostic age and parenting stress. An earlier diagnostic age, in turn, suggested better behavioural and emotional outcomes for children. Overall, the Network Analysis showed itself to be an informative approach to understanding parenting stress in the ASD context. Findings further advocate for the implementation of ASD-related and language-related interventions as early as possible, and that language delays during early infancy justify prompt clinical assessment.
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5. Corrêa GGS, Soares FVM, Vasconcelos ZFM, Costa ACC, Rocha AD. Clinical and nutritional profile of children and adolescents with autism spectrum disorder in Brazil: a nationwide online survey. J Pediatr (Rio J);2025 (Apr 17)
OBJECTIVE: To characterize the clinical and nutritional profile of children and adolescents with ASD in Brazil and their eating problems. METHOD: This is a cross-sectional study using a national online survey, with a sample of 613 children and adolescents with ASD aged between 2 and 17 years. Data analysis consisted of descriptive analysis, followed by Pearson’s chi-square test with a statistical significance of 0.05 and a 95% confidence interval. RESULTS: Food allergy was reported by 33.8% of the participants, the most frequent being cow’s milk (70.2%), among those who reported gastrointestinal problems, constipation was the most frequent (54.1%). The presence of pica was reported by 25% and food selectivity was present in 77.2%, with greater refusal of fruit, vegetables and pasty textures. Most of the participants do not have follow-ups with a nutritionist and 44.5% are on some special diet, excluding gluten/wheat (75.4%) and without casein/animal milk (76.1%). More than half of the participants did not eat fruit (50.6%), vegetables (68.1%), or leafy greens (83.6%) frequently. A positive correlation was found between food selectivity and gastrointestinal symptoms (p-value < 0.050); food allergy and gastrointestinal symptoms (p-value < 0.001) and pica and gastrointestinal symptoms (p-value < 0.001). CONCLUSIONS: The results of this study show changes in food consumption and increased risk of nutritional deficiencies for children and adolescents with ASD in Brazil.
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6. Craddock E. Navigating residual diagnostic categories: The lived experiences of women diagnosed with autism and ADHD in adulthood. Health (London);2025 (Apr 21):13634593251336163.
This article conceptualises a combined autism and ADHD (AuDHD) diagnosis as a residual category not formally represented in diagnostic systems, addressing a critical gap in neurodiversity research. Using Interpretative Phenomenological Analysis of email interviews with six women diagnosed in adulthood, it examines the ambivalence arising from inhabiting this liminal diagnostic space. Residuality generates conflicting feelings about autism, ADHD, and the self, resulting in fragmented identities shaped more by societal narratives than by interpersonal perceptions. Themes include the contradictions between autism and ADHD (‘two separate parts of my brain’), their sometimes-complementary relationship (‘two sides of the same coin’), and the tension between neurodiversity and medicalisation narratives (‘autism is a part of me, ADHD is an add-on’). To resolve this ambivalence, participants sought an objective understanding of their conditions and distinguished between neurodivergent and neurotypical identities. Collectively, their narratives reveal a fluid and dynamic understanding of AuDHD. As the first study to explore the lived experiences of adults diagnosed with both autism and ADHD, it makes an original contribution by developing an AuDHD phenomenology and analytical framework. By amplifying the voices of women historically marginalised, the findings underscore the need for integrated diagnostic processes and tailored support to foster cohesive self-identity. This article contributes to neurodiversity literature, broadens understandings of categorical systems, and illuminates the complexities of navigating residual diagnostic spaces.
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7. Deng JR, Tong M, Zhang XT, Lin ZP, Wang Z, Long J, Chen ZM. An Event-Related Potential Study on Facial Recognition in Children with and without Autism Spectrum Disorders. Neuropsychiatr Dis Treat;2025;21:903-916.
PURPOSE: Facial recognition is very primary and important in individuals’ development and the event-related potential based on face recognition such as N170 is considered as the most potential objective marker of autism, the hot and difficult point of current research. We will explore the electrophysiological basis of facial recognition with autism and without autism. Given the link between facial recognition and social impairments, the core symptom of autism, it is also necessary to study the correlation between the P1 and N170 components and the severity of social functioning in autism. PATIENTS AND METHODS: In this study, autism and age-matched typically developing children were asked to examine photographs of faces, objects and butterflies and event-related potentials were recorded. The parents or caregivers of the participants were asked to fill out the Vineland Adaptive Behavior Scale. Finally, thirteen children with autism (6.60±2.12years) and ten typically developing (6.65±1.64years) children were included in the experiment. RESULTS: Children with autism showed slower P1 and N170 latencies than typically developing children. The N170 amplitude for faces was larger than that for objects. Considering age as a covariant, the results primarily remained unchanged and the effect size of age was significant for the P1 and N170 latencies. As for the correlation between ERPs and the severity of social impairment, there were some significant correlations between the P1 and N170 latencies and social functioning. CONCLUSION: This result not only suggests the electrophysiological basis of facial recognition but also indicates that the P1 and N170 components could assist in the diagnosis and assessment of autism. Moreover, the results suggest that age should be considered in analyses of the P1 and N170 latencies. Due to a limited number of participants, conducting a multi-center and large-sample study in the future is necessary.
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8. Duan J, Zeng D, Wu T, Luo Z, Jingwen G, Tan W, Zeng Y. Neural Connections and Molecular Mechanisms Underlying Motor Skill Deficits in Genetic Models of Autism Spectrum Disorders. Prog Neurobiol;2025 (Apr 18):102759.
Autism spectrum disorders (ASDs) comprise a broad category of neurodevelopmental disorders that include repetitive behaviors and difficulties in social interactions. Notably, individuals with ASDs exhibit significant impairments in motor skills even prior to the manifestation of other core symptoms. These skills are crucial for daily activities, such as communication, imitation, and exploration, and hold significant importance for individuals with ASDs. This review seeks to offer new insights into the understanding of motor skill impairments by delineating the pathological mechanisms underlying motor skill learning impairments associated with gene mutations in Fmr1, Chd8, Shank3, BTBR, 16p11.2, and Mecp2, predominantly drawing from well-characterized genetic mouse model studies and proposing potential targets for future therapeutic interventions. We further discuss the underlying pathogenic abnormalities associated with the development of specific brain regions within the cerebellum and cerebrum, as well as disruptions in the structure and function of critical neuronal connectivity pathways. Additional research utilizing epidemiological data, clinical observations, and animal research methodologies is warranted to enhance our understanding of the effect of motor skill learning on the growth, development, and social integration of children. Ultimately, our review suggests potential targets for future therapeutic interventions.
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9. Gao J, Song W, Huang D, Zhang A, Ke X. The effect of game-based interventions on children and adolescents with autism spectrum disorder: A systematic review and meta-analysis. Front Pediatr;2025;13:1498563.
PURPOSE: The purpose of this meta-analysis was to conduct a comprehensive evaluation of randomized controlled trials (RCTs) of game-based interventions (GBI) for children and adolescents with autism spectrum disorder (ASD) to identify the clinical efficacy of GBI on core symptoms and other concomitant symptoms of ASD. METHODS: PubMed, Web of Science, Embase and the Cochrane Library were systematically searched for articles published until July 2023. RESULTS: Twenty-four studies with 1,801 patients met the inclusion criteria. The results showed that GBI had a significant positive effect on social skills (g = -0.59, p = 0.004), social behaviors (g = 0.45, p < 0.001), and cognition (g = 0.57, p < 0.001) in children and adolescents with ASD, while the effects of language expression (g = 0.15), anxiety (g = -0.13), and parenting stress (g = -0.51) were small and nonsignificant. CONCLUSIONS: The results of the current meta-analysis showed that GBI was effective in improving social skills, social behaviors and cognition in children and adolescents with ASD in the existing studies and was not significant in improving language skills, anxiety and parental stress, but due to the limited number and low quality of the included studies, the above conclusions need to be validated by conducting more large-sample, high-quality RCTs. SYSTEMATIC REVIEW REGISTRATION: www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023390793, identifier: CRD42023390793.
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10. Gao X, Xu G, Fu N, Wang L, Ben Q, Shen M, Bu X. Exercise interventions for health outcomes in children with autism spectrum disorder: An umbrella review of meta-analyses of clinical trials. Neurosci Biobehav Rev;2025 (Apr 18);173:106144.
Exercise interventions have gained widespread acceptance due to their cost-effectiveness, ease of implementation, and low incidence of negative effects. However, the overall effects of exercise interventions on the health outcomes of children with autism are not evaluated systematically. To evaluate the effect of exercise interventions on behavioral, motorial, and psychosocial health outcomes in autistic children, as well as to determine the quality of evidence for each outcome. We conducted an umbrella review of meta-analyses investigating the associations between exercise interventions and health outcomes in autistic children from inception to November 27, 2024. Following exercise interventions, maladaptive behavior [standardized mean difference (SMD): -0.73; 95 % confidence interval (95 % CI): -0.71, -0.03] showed a substantial improvement. However, no discernible impact on stereotyped behavior (SMD: 0.09; 95 % CI: -0.30, 0.48) was observed. Sensitivity analysis revealed that all overall effect sizes indicated statistically significant differences, even though the reanalysis of meta-analyses showed no significant effectiveness of exercise interventions on social communication (SMD: -0.09; 95 % CI: -0.61, 0.43), social skill (SMD = -0.22; 95 % CI: -0.99, 0.54), social function (SMD = 2.64; 95 % CI: -0.10, 5.39), and motor skills (SMD: 0.71; 95 % CI: -0.97, 2.39). Exercise interventions are suggested to improve maladaptive behaviors and may help with social communication, social skills, social function, and motor skills. The evidence for the effectiveness of exercise interventions in reducing stereotyped behaviors is weak, but it still merits investigation. We need more carefully planned randomized controlled studies.
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11. Huber EM, Cooper MS. Beyond the Label: Antipsychotic Prescribing Practices at a Paediatric Neurodisability Service in Australia. Child Care Health Dev;2025 (May);51(3):e70085.
BACKGROUND: The use of antipsychotic medications in children has been increasing in Australia and abroad. Children with complex physical and neurodevelopmental disability remain understudied in the prescribing literature, and we do not have a nuanced understanding of why and to whom antipsychotic medications are prescribed. METHODS: We conducted a retrospective review of records to characterise antipsychotic prescription patterns for children with neurodisability at the Royal Children’s Hospital, Melbourne, Australia. We used the Electronic Medical Record to identify children under 19 years, newly prescribed an antipsychotic medication by Department of Neurodevelopment and Disability clinicians between 24/09/2018 and 26/09/2022. We identified 167 encounters for 147 patients, representing 4% (147/3673) of the patients seen in that period. Main outcome measures were the frequency of antipsychotic medication prescription by drug, age category and sex; indication frequency; proportion of off-label use; and frequency and level of psychotropic polypharmacy. RESULTS: In our cohort, 71% of children had intellectual disability (104/147), 42% autism spectrum disorder (61/147) and 42% cerebral palsy (61/147). Risperidone was the most prescribed antipsychotic medication, in 64% (107/167), followed by olanzapine in 18% (32/167). Off-label prescription was 62% (66/107) for risperidone, 97% (31/32) for olanzapine. The indication for antipsychotic medication was challenging behaviour in 74% (123/167), including aggression in 31% (52/167), agitation in 20% (33/167) and self-injury in 17% (28/167). Nonbehavioural indications included anxiety symptoms in 19% (32/167) and sleep disorders in 14% (24/167). Psychotropic polypharmacy (two or more concurrent psychotropic medications) was present in 78% (130/167), with sedatives (69%, 115/167) and antidepressants (31%, 52/167) most common. CONCLUSIONS: A small proportion of children with neurodisability were prescribed antipsychotic medications, most frequently risperidone for challenging behaviours. Off-label prescription and psychotropic polypharmacy were common. Prescription occurred in a variety of clinical scenarios that sit outside the current field of evidence.
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12. Jaiswal A, Wall DP, Washington P. Challenges in the Differential Classification of Individual Diagnoses from Co-Occurring Autism and ADHD Using Survey Data. IEEE EMBS Int Conf Biomed Health Inform;2024 (Nov);2024
Autism and Attention-Deficit Hyperactivity Disorder (ADHD) are two of the most commonly observed neurodevelopmental conditions in childhood. Providing a specific computational assessment to distinguish between the two can prove difficult and time intensive. Given the high prevalence of their co-occurrence, there is a need for scalable and accessible methods for distinguishing the co-occurrence of autism and ADHD from individual diagnoses. The first step is to identify a core set of features that can serve as the basis for behavioral feature extraction. We trained machine learning models on data from the National Survey of Children’s Health to identify behaviors to target as features in automated clinical decision support systems. A model trained on the binary task of distinguishing either developmental delay (autism or ADHD) vs. neither achieved sensitivity >92% and specificity >94%, while a model trained on the 4-way classification task of autism vs. ADHD vs. both vs. none demonstrated >65% sensitivity and >66% specificity. While the performance of the binary model was respectable, the relatively low performance in the differential classification of autism and ADHD highlights the challenges that persist in achieving specificity within clinical decision support tools for developmental delays. Nevertheless, this study demonstrates the potential of applying behavioral questionnaires not traditionally used for clinical purposes towards supporting digital screening assessments for pediatric developmental delays.
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13. Krawczyk M, Pinkham A, Golec-Staśkiewicz K, Wysocka J, Okruszek Ł. Recognizing communicative intentions from single- and dyadic point light displays in autistic adults. Soc Neurosci;2025 (Apr 20):1-13.
The present study compares the ability of non-autistic (NA) and autistic adults (ASD) with intellectual functioning in the normal range to process communicative intentions from biological motion (BM) – a capacity often considered as a prerequisite for a higher-order social cognition (SC). Twenty-nine ASD and 29 NA completed two tasks assessing the ability to recognize the communicative cues presented by either one or two point-light agents, as well as one point-light emotion recognition task and additional measures of SC abilities. Autistic participants demonstrated a decreased ability to recognize communicative intentions from BM (p = 0.02 for dyadic and p = 0.03 for single agent task) despite similar levels of neurocognitive and social cognitive functioning. Additional exploratory analyses revealed an indirect trajectory linking the capacity to recognize communication from BM with autism symptoms through social cognitive capacity. Autistic adults may experience difficulties in processing communicative intentions, even in the absence of detectable higher-order SC problems. A possible mechanism might be the engagement in compensatory strategies that are inadequate for detecting lower-order intuitive social cues. Therefore, including tasks that assess the ability to detect communicative cues from BM may be beneficial for autistic adults with high cognitive abilities, in whom SC difficulties might be overlooked.
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14. Larson C, Thomas HR, Crutcher J, Stevens MC, Eigsti IM. Language networks in Autism Spectrum Disorder: A systematic review of connectivity-based fMRI studies. Rev J Autism Dev Disord;2025 (Mar);12(1):110-137.
Autism Spectrum Disorder (ASD) is a heterogeneous condition associated with differences in functional neural connectivity relative to neurotypical (NT) peers. Language-based functional connectivity represents an ideal context in which to characterize connectivity because language is heterogeneous and linked to core features in ASD, and NT language networks are well-defined. We conducted a systematic review of language-related functional connectivity literature on individuals with ASD using PubMed, PsychInfo, Scopus, ProQuest, and Google Scholar, yielding 96 studies. Language-task studies indicated local over-connectivity within the language network and global under-connectivity of language with out-of-network regions in ASD. Resting-state studies showed mixed patterns, and connectivity was associated ASD symptomology and language skills. This evidence indicates language-task elicited local over-connectivity and global under-connectivity in ASD, but not a local versus global distinction of resting-state language-related connectivity. Associations with behavior suggest that local over-connectivity and global under-connectivity characterize ASD, and heightened language-related connectivity may support social function.
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15. Liu Z, Zhong S, Ho RCM, Qian X, Tang Y, Tian H, Zhang C, Li N, Zhao Y, Zhang Y, Liu H, Wu M, Zhan Y, Li M, Lv Z, Hao F, Tam W, Bingyuan JL, Pascual-Leone A. Transcranial Pulsed Current Stimulation and Social Functioning in Children With Autism: A Randomized Clinical Trial. JAMA Netw Open;2025 (Apr 1);8(4):e255776.
IMPORTANCE: Transcranial pulsed current stimulation (tPCS) may improve social functioning and sleep disorders in children with autism spectrum disorder (ASD). Prior trials have been limited by small sample sizes, single-center designs, and often a lack of sham controls. OBJECTIVE: To examine the safety and efficacy of tPCS in improving social functioning and sleep disorders in children with ASD. DESIGN, SETTING, AND PARTICIPANTS: This multicenter, double-blind, 2-armed, sham-controlled randomized clinical trial, conducted from May 1, 2022, through November 30, 2023, assessed children aged 3 to 14 years with ASD at 8 medical centers in China. INTERVENTIONS: Participants underwent daily 20-minute sessions of active tPCS (0.7 mA) or sham tPCS (brief 0.7 mA ramp-up and ramp-down) for 20 sessions over 4 weeks with anode over the right cerebellar hemisphere and cathode over the left dorsolateral prefrontal cortex (12.56-cm2-circular, 4-cm-diameter circular electrodes). Each day after tPCS, all participants received 1 hour of standard therapy. MAIN OUTCOMES AND MEASURES: Social functioning was assessed using the Autism Treatment Evaluation Checklist as the primary outcome. Secondary outcomes included the Autism Behavior Checklist and the Childhood Sleep Habits Questionnaire. RESULTS: A total of 312 participants (155 in the active group and 157 in the sham group; 248 [79.5%] boys; mean [SD] age, 5.1 [1.6] years; 276 [88.5%] aged 3-6 years and 36 [11.5%] aged 7-14 years) completed the trial. After 20 sessions, the mean Autism Treatment Evaluation Checklist total score improved by 4.13 points (5.8%) in the sham tPCS group and 7.17 points (10.7%) in the active tPCS group. Analysis of covariance showed significantly greater improvement in the active tPCS group (difference, -3.50; 95% CI, -5.56 to -1.43; P < .001). Both treatments were well tolerated. CONCLUSIONS AND RELEVANCE: In this randomized clinical trial of prefrontal-cerebellar tPCS in children aged 3 to 14 years with ASD, 20 sessions over 4 weeks improved social functioning and sleep. These findings suggest that tPCS may serve as a viable nonpharmacologic alternative for ASD. TRIAL REGISTRATION: Chinese Clinical Trial Registry Identifier: ChiCTR2200059118.
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16. Mazuz Y, Hadad BS, Ganel T. Intact Susceptibility to Visual Illusions in Autistic Individuals. Autism Res;2025 (Apr 21)
Altered sensory perception, a core characteristic of autism, has been attributed to attenuated use of stimuli context or prior information in perception. Reduced susceptibility to perceptual illusions was extensively used to support these accounts for autistic perception. However, empirical evidence has been inconsistent. The current study systematically investigated susceptibility to size illusions in autistic and non-autistic individuals using a standardized psychophysical battery. Eighty-one participants, 41 autistic and 40 non-autistic individuals, completed the Ben-Gurion University Test for Perceptual Illusions (BTPI), measuring susceptibility to the Ponzo, Ebbinghaus, and Height-width illusions. The results demonstrate clear evidence for susceptibility to illusions in the perception of size both in the autistic and non-autistic groups. No significant differences were found between groups in the magnitude of illusion on the perceived size, or on the perceptual resolutions of size (discrimination thresholds) in any of the illusory settings tested. The results challenge current theories suggesting reduced reliance on priors or enhanced sensory measurement in autism. Instead, using robust psychophysical methods, the study provides clear evidence for autistic people forming priors and using long-term knowledge in perception.
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17. Mbuyamba HT, Ruboha CO, Mhidze AG, Katwana DG, Mungia MM, Nkika JZ. Colorectal bezoars as an unusual cause of intestinal obstruction in an autistic child: A case report. Int J Surg Case Rep;2025 (Apr 21);130:111325.
INTRODUCTION AND IMPORTANCE: Individuals with Autism Spectrum Disorder (ASD) are at greater risk of experiencing co-occurring gastrointestinal (GI) symptoms, including chronic constipation and acute intestinal obstruction, due to bezoars secondary to pica. This case highlights the importance of clinic evaluation of autistic patients presenting with obstructive gastrointestinal symptoms and its further impact on management of the patients. CASE PRESENTATION: An 11-year-old male patient who has had autism since childhood presented to the emergency department with chief complaint of difficulty in passing stool for one month which was associated with failure to pass flatus, severe abdominal pain and loss of appetite. The relative reported that the patient had a tendency of eating inorganic materials when unsupervised like hair, cushion sponges or sand. An abdominal mass was palpated at the left lower quadrant of the abdomen. Abdominopelvic CT-Scan showed fecal impaction. The patient was managed conservatively by manual evacuation under general anesthesia. CLINICAL DISCUSSION: Colonic bezoars presenting with obstructive symptoms is a rare finding. It should be thought of in autistic patients with habit of pica. Diagnostic imaging modalities such as X-ray and CT scan are of paramount importance in confirming the diagnosis. Initial management involves conservative measures for uncomplicated cases. CONCLUSION: Bezoars should be considered as cause of intestinal obstruction in patients with habit of pica, especially in those with autism spectrum disorders. Multidisciplinary approach to diagnosis, intervention, and long-term management in assuring patients’ overall well-being should sought.
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18. Okkenhaug I, Wilhelmsen T, Mork PJ, Mehus I. Movement Behaviors in Youth on the Autism Spectrum: The HUNT Study, Norway. J Autism Dev Disord;2025 (Apr 21)
Research consistently show that autistic youth are less physically active compared to their neurotypical peers. However, there is limited understanding of how gender influences physical activity (PA) patterns among neurodiverse youth compared to the general population. This study aims to examine 24-hour movement behaviors – PA, sedentary behavior (SB), and sleep duration – among autistic youth (n = 71) in Norway, in comparison to peers with Attention-Deficit/Hyperactivity Disorder (ADHD) (n = 411) and the general youth population (n = 3805). The data is from the Young-HUNT4 study, linked with diagnostic information from the Norwegian Patient Registry. Variables explored are objective accelerometer-measured PA, SB, and sleep duration, self-reported participation in organized and unorganized physical activities, and screen activities. Results confirms that autistic youth engage in lower levels of moderate-to-vigorous PA, while demonstrating similar levels of light PA. They also spend more time sitting and comparable time sleeping. Autistic youth participate less in sport and were less likely to use commercial gyms. However, their participation in outdoor activities were similar to their peers. Regarding screen activities, autistic youth spent more time playing video games, while youth with ADHD were more engaged in social media. Among autistic youth, the only gender difference found was in video games. In conclusion, autistic youth are less physically active overall and spend significant time in SB. However, their comparable participation in light PA suggests opportunities for promoting further participation. Additionally, exergaming could offer a promising avenue to increase PA in this population.
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19. Pomè A, Zimmermann E. Disrupted sensorimotor predictions in high autistic characteristics. Proc Natl Acad Sci U S A;2025 (Apr 29);122(17):e2501624122.
Humans maintain a stable view of the world by omitting self-generated motion during rapid eye movements, or saccades. An efferent copy of the saccade motor command informs visual processing about the self-produced motion. However, efference copy information has been demonstrated to be disrupted in individuals with high autistic traits. Here, we investigated saccadic omission in participants with high vs. low autistic traits. Participants made saccades to peripheral targets and reported the location of drifting gratings that became visible during saccade execution. Sensitivity to motion was also assessed in a fixation condition, where retinal velocities matched those experienced during saccades. Our findings reveal that individuals with heightened autistic traits exhibit significantly reduced sensitivity to motion during saccades compared to those with low autistic traits, while no Autistic Quotient-dependent differences were observed in the fixation condition. These results suggest that impairments in sensorimotor processing affect the ability of individuals with high autistic traits to predict how their own movements affect the sensory input. The lack of sensorimotor integration might explain the sensory overload that autistics frequently experience.
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20. Prabhakaran N, Jestine S, Chandran S, Shiva L, Moncy AM. Gastrointestinal Manifestations and Associated Comorbidities in Children with Autism Spectrum Disorder: A Cross-sectional Analysis from South India. Indian J Psychol Med;2025 (Apr 16):02537176251331152.
BACKGROUND: Gastrointestinal (GI) symptoms are frequently reported in children with autism spectrum disorder (ASD) and may significantly impact behavior, sleep, adaptive functioning, and the severity of autism. This study aims to explore the relationship between GI symptoms and these factors in children with ASD. METHODS: We investigated 96 children and adolescents with ASD aged 3-18 years attending an autism clinic in South India. Parents were interviewed using a semi-structured proforma that gathered information on GI symptoms, sociodemographic details, medical history, and treatment history. Behavioral problems were assessed using the Strengths and Difficulties Questionnaire-2 (SDQ-2), ASD severity was measured using the Indian Scale for Assessment of Autism (ISAA), and sleep issues were evaluated using the Children’s Sleep Habits Questionnaire (CSHQ) for autism. Statistical analyses were conducted to determine the predictive value of assessment scores on GI symptoms in two groups: (a) those with mild to moderate ASD and (b) participants aged less than or equal to six years versus more than six years. RESULTS: Constipation and dietary problems were the most commonly reported (82.29%), followed by dyspepsia and reflux (44.79%), pica (36.46%), abdominal pain (26.04%), and diarrhea (14.58%). Holding all other predictor variables constant, constipation increased by 20% (odds ratio [OR] = 1.201) for unit increases in speech-language communication scores. Abdominal pain decreased by 24.5% (OR = 0.755) for unit increases in peer problems scores. Excessive flatulence decreased by 64.2% (OR = 0.358) for unit increases in conduct problems score. Finally, pica was found to increase by 23.2% (OR = 1.232) for unit increases in the sensory patterns score. CONCLUSIONS: The GI symptoms can negatively impact sleep and behavior in children with ASD, spotlighting the importance of routine GI screening in this population. Clinicians should be particularly vigilant in cases where symptoms suggest a higher likelihood of GI issues to enhance the quality of care for children with ASD.
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21. Price J, Romualdez AM. ‘It just feels unnatural being here’: Autistic secondary school students’ experiences of sensory sensitivities in the school environment. Autism;2025 (Apr 21):13623613251333860.
Autistic young people often struggle to cope with the daily demands of school and are likelier to experience poorer wellbeing and educational outcomes than their non-autistic peers. Among other factors, this may be because mainstream settings are unsuitable for individuals’ sensory needs. Evidence suggests the unpredictable multi-sensory nature of school can elicit sensory distress, adversely affecting behaviour and learning. However, existing literature has primarily taken a top-down deductive approach and largely neglected autistic voices. The present study, therefore, employed a participatory approach and photo-voice semi-structured interview method to explore autistic students’ sensory experiences in a mainstream secondary school in the U.K. The sample consisted of six students aged 12-16 years with a clinical diagnosis of autism attending a state comprehensive school in Suffolk, U.K. Through reflexive thematic analysis, three main themes were identified: (1) impact of the school environment; (2) the importance of safe spaces and (3) levels of support and understanding. This study’s findings suggest autistic students are routinely overstimulated, overwhelmed and lack adequate support to overcome sensory barriers in mainstream settings. This study has implications for further participatory research and inclusive practice to ensure better educational experiences and outcomes for autistic young people.Lay AbstractAutistic young people often struggle to manage and respond to sensory stimuli within the school environment, impacting wellbeing, energy levels and the ability to learn. We asked six autistic students aged 12-16 years about their sensory experiences at secondary school. Specifically, we asked students to photograph areas in school that they positively and negatively associated with sensory stimulation, and follow-up interviews focused on these photographs and individuals’ sensory experiences. Many studies previously examined the sensory impact of school on autistic children. However, few studies have considered how autistic children think and feel about how their sensory differences affect them in school. Therefore, this study aimed to investigate autistic students’ firsthand accounts of sensory challenges within a secondary state school in the U.K. Students spoke about the detrimental effects of the school environment on their sensory needs and the importance of quiet spaces to recharge. Students also described a lack of consistent and adequate support to overcome daily sensory barriers. Generally, participants desired acceptance and understanding of their autistic identity and differences. This study has implications for future practice and research. With increasing numbers of autistic children attending mainstream schools, central and local governments must increase funding and support to equip schools and staff with the necessary training and resources to meet autistic students’ sensory needs. Increased provision of quiet rooms and low-cost environmental modifications (such as replacing fluorescent lighting) may also reduce sensory distress. Despite its complexities, empowering autistic young people to have their say is essential and may improve long-term outcomes.
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22. Sznajder Ł J, Khan M, Ciesiołka A, Tadross M, Nutter CA, Taylor K, Pearson CE, Lewis MH, Hines RM, Swanson MS, Sobczak K, Yuen RKC. Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes. Nat Neurosci;2025 (Apr 21)
Genome-wide enrichment of gene-specific tandem repeat expansions has been linked to autism spectrum disorder. One such mutation is the CTG tandem repeat expansion in the 3′ untranslated region of the DMPK gene, which is known to cause myotonic muscular dystrophy type 1. Although there is a clear clinical association between autism and myotonic dystrophy, the molecular basis for this connection remains unknown. Here, we report that sequestration of MBNL splicing factors by mutant DMPK RNAs with expanded CUG repeats alters the RNA splicing patterns of autism-risk genes during brain development, particularly a class of autism-relevant microexons. We demonstrate that both DMPK-CTG expansion and Mbnl null mouse models recapitulate autism-relevant mis-splicing profiles, along with social behavioral deficits and altered responses to novelty. These findings support our model that myotonic dystrophy-associated autism arises from developmental mis-splicing of autism-risk genes.
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23. Usher R, Currans K, Wallis K, Bennett A, Miller JS. Evaluating More Granular Options for Socio-Demographic Questions in Autism Research. Autism Res;2025 (Apr 21)
We evaluated the feasibility and acceptability of adding more detailed choices for race, ethnicity, sex, gender, and socio-economic status for a demographic survey used by families both within and outside a large learning health network, the Autism Care Network (ACNet). We updated our demographic survey using an iterative approach, incorporating qualitative and quantitative feedback from interested parties across the US and Canada. Pilot testing of the revised survey was conducted with families with and without autism served by two large academic pediatric tertiary care centers. Through purposive sampling, recruitment was enriched for families from ethnic, racial, or gender minority backgrounds. The updated demographic survey increased the number of response options for race and ethnicity, sex, gender, and language. 85 families within the ACNet and 242 families outside the ACNet provided feasibility and acceptability data. 41% of respondents were from nonWhite or multiple race groups. 99% of respondents rated the updated form same or better than the original. 91% of respondents rated the updated form as acceptable, while 97% rated the survey as feasible. Despite concerns about the burden on respondents, we found high rates of feasibility and acceptability of more granular response options in demographic surveys. Researchers can adapt this approach to make their own more granular demographic forms focused on the specific variables relevant to their study and local contexts. More granular demographic data can identify strengths and gaps in representation that could impact a study’s generalizability.
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24. Wang Y, Wang J, Lu C. Neural mechanisms of spatial navigation in ASD and TD children: insights from EEG microstate and functional connectivity analysis. Front Psychiatry;2025;16:1552233.
INTRODUCTION: Autism Spectrum Disorder (ASD) is associated with atypical neural dynamics, affecting spatial navigation and information integration. EEG microstates and functional connectivity (FC) are useful tools for investigating these differences. This study examines alterations in EEG microstates and theta-band FC during map-reading tasks in children with ASD (n = 12) compared to typically developing (TD) peers (n = 12), aiming to uncover neural mechanisms underlying spatial processing deficits in ASD. METHODS: EEG data were collected from children with ASD (n = 12) and TD controls (n = 12) aged 6-10 years during a map-reading task. Microstate analysis quantified the temporal dynamics of four canonical microstates (A, B, C, and D). Theta-band (4-8 Hz) FC was analyzed to assess interregional neural communication during the task. Statistical tests identified group differences in microstate metrics and FC patterns. RESULTS: Children with ASD showed significant differences in EEG microstate dynamics compared to TD controls. The ASD group showed reduced occurrence, but longer duration and greater coverage in microstate A, indicating abnormal temporal and spatial brain activity. For microstate B, the ASD group displayed shorter durations and lower coverage, suggesting impairments in cognitive control. In microstate C, the ASD group exhibited reduced duration, coverage, and steady-state distribution, pointing to disruptions in spatial attention. Conversely, microstate D showed increased occurrence and greater coverage in the ASD group, reflecting atypical spatial attention allocation. Theta-band FC analysis revealed significantly reduced connectivity in key brain networks involved in spatial navigation, particularly between fronto-parietal and occipito-temporal regions. This suggests disrupted integration of spatial and cognitive processes in children with ASD. DISCUSSION: The alterations in EEG microstate patterns and theta-band FC highlight differences in the neural mechanisms underlying spatial navigation and cognitive integration in ASD. These findings suggest that microstate and FC analyses could serve as biomarkers for understanding visual spatial navigation in ASD, related to perceptual abnormalities. This research provides a basis for individualized rehabilitation plans for children with ASD, using qEEG biomarkers to guide neuromodulation techniques, such as transcranial direct current stimulation (tDCS). Future studies should investigate longitudinal changes and intervention effects on these neural dynamics.
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25. Watanabe D, Yagasaki H, Narusawa H, Inukai T. 16p13.11 microduplication with growth retardation and developmental disorders: a case report and literature review. Nagoya J Med Sci;2025 (Feb);87(1):144-149.
Short stature and growth retardation is a common condition in children. Genetic variations are responsible for many cases of short stature of unknown etiology. In particular, pathogenic copy number variants (CNVs) have been found in 10%-16% of children with unexplained short stature. This paper reports on a 5-year-old Japanese girl with both growth retardation and developmental delay associated with a 16p13.11 microduplication. Although the patient’s mother also carries this microduplication, she did not show growth retardation and developmental delay. These cases illustrate the diverse phenotypic manifestations of 16p13.11 microduplication. Consequently, we conducted the literature review of 274 cases associated with this duplication revealed neurological disorders in approximately 70% of cases, 15.3% of these cases were associated with short stature. Diagnosis of 16p13.11 microduplication remains challenging due to its diverse symptomatology and elusive genotype-phenotype correlations. Comprehensive genetic evaluation is crucial for patients presenting with short stature and developmental disorders, underscoring the need for further investigation into the 16p13.11 microduplication to clarify its specific role and implications.