Pubmed (TSA) du 11/03/26
1. Alimoğlu EB, Sezer Efe Y, Caner N, Demirci E, Evgin D. Positive parenting and posttraumatic growth in mothers of children with autism spectrum disorder in Türkiye. BMC Pediatr. 2026.
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2. AlShammari RZ, AlMuraisel MA. Use of M-CHAT for autism screening in well-baby clinics of a primary health care center in Dhahran, Saudi Arabia: a retrospective cross-sectional study. BMC Pediatr. 2026.
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3. Arduç Akçay A, Türkmen Noyan G, Çalışkan İ, Konakçı B, Copur S, Mutluer T. Sociodemographic Profiles and Age-Related Differences in Comorbidities, Sleep, and Quality of Life of Turkish Children with Rett Syndrome and their Families. Neuropediatrics. 2026.
This study aimed to examine sociodemographic characteristics, comorbid medical conditions, sleep problems, and their impact on quality of life (QoL) in Turkish children with Rett Syndrome (RTT) and their caregivers. A secondary aim was to explore how these features vary by age group: early (0-5), middle (6-11), and late childhood (12-18 years).In this cross-sectional study, 74 children with RTT and their caregivers completed standardized online questionnaires. QoL and sleep were assessed using the PedsQL and Children’s Sleep Habits Questionnaire. Participants were grouped by age to examine developmental differences.Only 37.8% of the children had developed speech, and most later lost this ability. Independent walking was reported in 43.2%. Epilepsy (71.6%) and gastrointestinal symptoms (56.8%) were common. Parasomnia symptoms significantly more common in the 0 to 5 age group (p = 0.039). Emotional functioning was lower in younger children (p = 0.022). Poor sleep quality was associated with worse family relations (p = 0.032).Younger children with RTT experience more emotional and sleep problems. Sleep quality is closely tied to family well-being, suggesting that interventions should address sleep in both children and caregivers.
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4. Brown HK. Fertility Rates in Women With Intellectual and Developmental Disabilities: New Evidence and Ongoing Gaps. Paediatr Perinat Epidemiol. 2026.
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5. Davoody S, Miryounesi M, Mazaheri N, Abbasinejad M, Davari-Ashtiani R. Beyond genetics: A rare case of childhood disintegrative disorder following psychosocial trauma. J Pediatr Nurs. 2026; 88: 337-41.
BACKGROUND: Childhood Disintegrative Disorder (CDD), or Heller’s syndrome, is a rare neurodevelopmental condition characterized by late regression of language, social, and motor abilities after a period of normal development. Its etiology remains unclear, but may involve genetic, immunologic, or environmental factors. While biological causes are emphasized in most studies, psychosocial influences have been rarely examined. This report presents a case of CDD following severe psychosocial trauma, accompanied by comprehensive genetic testing and structured sleep assessment. METHODS: A multidisciplinary evaluation including neurological, neuroimaging, and psychiatric assessments, physical examination, laboratory investigations, and whole-exome sequencing (WES) were performed. Developmental regression was assessed with the Autism Diagnostic Interview-Revised (ADI-R), and sleep disturbances with the Persian version of the Children’s Sleep Habits Questionnaire (CSHQ). CASE PRESENTATION: A 9-year-old girl showed progressive regression in cognitive, linguistic, and motor skills at age 5 after witnessing her mother’s death and her brother’s self-immolation. Self-immolation is the most tragic and violent method of suicide, and is considered a severe traumatic event. Neurological examination, EEG, and MRI were unremarkable. WES and CNV analyses revealed no pathogenic variants, making genetic etiology unlikely. ADI-R confirmed severe regression in social and communication domains. The CSHQ score was 69 (>41), indicating significant sleep disturbances. Treatment with aripiprazole (12.5 mg/day) yielded minimal improvement during one year of follow-up. She was also referred for behavioral and developmental rehabilitation. CONCLUSION: This case highlights severe psychosocial trauma acting as a critical trigger for the onset of CDD. It emphasizes the need for pediatric nurses to recognize trauma-related regression, integrate trauma-informed care, and coordinate family assessment and support.
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6. Dell’Osso L, Nardi B, Pini S, Massoni L, Pustynnikova M, Bonelli C, Massimetti G, Cremone IM, Della Rocca B, Fiorillo A, Carpita B. Borderline personality disorder and eating disorders are characterized by specific patterns of autistic traits, post-traumatic and catatonic symptoms. Eat Weight Disord. 2026.
PURPOSE: The present study aims to clarify the relationships between autistic traits, post-traumatic symptoms, and catatonic features in individuals with BPD and FED. Specifically, we sought to identify whether distinct patterns of autistic and trauma-related features characterize these conditions and to examine their predictive role in the development of catatonic manifestations. METHODS: 49 subjects with BPD, 55 subjects with FED, specifically anorexia nervosa (AN) or bulimia nervosa (BN)/binge-eating disorder (BED) and 55 non-clinical subjects (NCs) were recruited and assessed with the Adult Autism Subthreshold Spectrum (AdAS Spectrum), the Catatonia Spectrum (CS), and the Trauma and Loss Spectrum Self-Report (TALS-SR). RESULTS: Both FED and BPD groups scored higher on AdAS, CS and TALS-SR than NC, while BPD group scored higher than FED on TALS-SR « Personal Characteristics and Risk Factors » domain. AN significantly differed from BN/BED in specific AdAS and CS domains. A positive correlation among AdAS spectrum, CS and TALS-SR domains was reported. Both AdAS and CS total score were predictors for the inclusion in BPD or FED group, with some specific differences in the predictive role of single domains. For the FED group, only AdAS symptoms predicted greater catatonic symptoms, while for the BPD one, both AdAS and TALS-SR were predictors of greater catatonic features. CONCLUSIONS: Both BPD and FED subjects exhibit more frequent autistic traits, stress-related symptoms, and catatonic manifestations compared to controls, with specific patterns of features associated with each condition. LEVEL OF EVIDENCE: Level V: Descriptive studies.
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7. Dunand A, Grape S, Perret Morisoli A. [Outpatient anesthesia for children with autism spectrum disorder]. Rev Med Suisse. 2026; 22(953): 501-5.
The anesthetic management of children with autism spectrum disorder (ASD) must be tailored to their specific needs. A targeted preoperative assessment helps anticipate challenges and reduce stress, and can be complemented by an anxiolytic premedication depending on the severity of the ASD. Using visual tools and involving parents promote better communication. A calm environment and specific measures facilitate postoperative recovery. When well-prepared and individualized, general anesthesia remains a safe and beneficial approach for these patients.
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8. Erwin J, Neill S, Vassallo T, Witton R, Peters L, Vassallo I, Nelder A, Paisi M. Exploring factors influencing autistic children and young people’s access to dental care in Southwest England: a qualitative study of children, parents, and dental professionals. BMC Oral Health. 2026.
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9. Felemban RA, Bamaga AK, Alharbi A, Alsenani F, Alzahrani MS, Algarni MA, Baali FH, Ramzy S, Almalki AH. Spectrofluorimetric determination of serum homovanillic acid using horseradish peroxidase and its association with autism spectrum disorder. Sci Rep. 2026; 16(1).
Dopaminergic dysfunction during neural development correlates with developmental disorders, including autism spectrum disorder. Homovanillic acid, a dopamine metabolite, serves as a biomarker for central dopaminergic activity. The aim of the present study is to establish a validated spectrofluorimetric method for exploring the association between serum homovanillic acid level and autism spectrum disorder. The spectrofluorimetric method is based on the transformation of homovanillic acid into a highly fluorescent dimer via catalytic oxidation facilitated by horseradish peroxidase in the presence of hydrogen peroxide. The resultant dimer of homovanillic acid demonstrated a pronounced emission peak at 430 nm subsequent to excitation at 335 nm. The methodology underwent validation in accordance with ICH M10 guidelines, and endogenous homovanillic acid concentrations were determined utilizing the standard addition technique. The method was successfully applied for estimating the homovanillic acid level in the serum of children diagnosed with autism spectrum disorder, as well as in healthy children. The findings indicated that the concentration of homovanillic acid was markedly elevated in the serum of children with ASD (mean value of 89 µg/L, n = 24) in comparison to that of their healthy counterparts (mean value of 56 µg/L, n = 15), P < 0.01.
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10. Kirsch S, Drimalla H, Saakyan W, Sajonz BEA, Gritzmann J, Maier S, Fangmeier T, Lin M, Guendelman S, Kaufmann C, Dziobek I, van Elst LT. Reduced task adaptation and contextual awareness in autistic adults during facial emotion recognition: evidence from mixed-effects modeling and automated facial analysis. Mol Autism. 2026; 17(1).
BACKGROUND: Despite significant advances in understanding facial emotion recognition (FER) in autistic adults in recent decades, the mechanisms underlying FER difficulties in individuals with autism remain unclear, with inconsistent findings across studies. A key limitation may be the reliance on aggregate accuracy scores, which overlook item- and subject-level variability. Here, we investigated the effects of task adaptation and stimulus properties on FER performance in autistic and non-autistic adults using mixed-effects modelling. METHODS: A total of 120 autistic and 116 non-autistic participants completed the Berlin Emotion Recognition Test 2. Performance was analyzed on a trial-by-trial basis, considering trial number, stimulus properties—derived from automated facial analysis—and their interactions with diagnostic group. Response times were analyzed using mixed-effects linear regression models, while accuracy was analyzed using mixed-effects logistic regression models. RESULTS: Compared with non-autistic participants, autistic participants demonstrated lower overall accuracy and slower responses, accompanied by significantly reduced task adaptation. Contextual ambiguity of stimulus faces moderated group differences in FER accuracy, with non-autistic subjects showing greater use of contextual information. Social-cognitive traits further moderated the effect of contextual ambiguity in autistic subjects. LIMITATIONS: Our findings are specific to the design and stimulus material of the Berlin Emotion Recognition Test 2 and may not generalize to other FER tasks. Furthermore, our sample did not include individuals with intellectual disabilities, limiting generalizability across the autism spectrum. Lastly, the reliability of stimulus property estimates derived from automated facial analysis may require validation on a larger sample of stimulus faces. CONCLUSIONS: Our findings reveal that differences in task adaptation and contextual cue processing underlie FER performance differences in individuals with autism, emphasizing the importance of participant- and item-level analysis. These results may inform future study designs and highlight the advantages of integrating automated FER with mixed-effects modeling in autism research. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-026-00711-6.
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11. Kondo Y, Tsuchiya K, Matsushita M, Takeshige H, Tozato F. Exploratory Analysis of Sleep-Wake Rhythms and Sensory Processing in School-Aged Children with Autistic Spectrum Disorder: An Actigraphic Study. Pediatric Health Med Ther. 2026; 17: 571178.
PURPOSE: This study aimed to explore and examine the relationship between sleep-wake rhythms and sensory processing characteristics in school-age children with autistic spectrum disorder (ASD) using objective sleep measurement indices. PATIENTS AND METHODS: This cross-sectional exploratory study included 30 children with ASD aged 6-9 years. Sleep-wake rhythms were recorded continuously for at least 14 days using a waist-worn actigraph (MTN-220) and analyzed with SleepSign Act. Sensory processing ability was assessed using the Japanese version of the Sensory Profile (SP-J), with SP-J quadrant and sensory processing scores. Associations between sleep variables and SP-J quadrant and sensory processing scores were examined using Spearman’s rank correlation coefficient, applying Bonferroni correction within each pre-specified correlation set. RESULTS: Of the 30 children initially enrolled, 11 were excluded, yielding data from 19 participants. After Bonferroni correction, no significant associations were found between SP-J quadrant scores and sleep variables (r = -0.411-0.540). Regarding associations with sensory processing scores, the oral sensory score showed a positive correlation with the mean wake time (r = 0.698, p = 0.006). However, no other significant associations were found between sensory processing scores and sleep variables. CONCLUSION: These results suggest that the relationship between oral sensory scores and the average wake time remains strong even during the school-age period when sleep-wake rhythms change. Although exploratory, this study provides foundational insights with clinical significance for understanding and supporting sleep disorders in children with ASD.
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12. Lamprou C, Alshehhi A, Hadjileontiadis LJ, Seghier ML. VarCoNet: A Variability-Aware Self-Supervised Framework for Functional Connectome Extraction From Resting-State fMRI. Hum Brain Mapp. 2026; 47(4): e70469.
Accounting for interindividual variability in brain function is key to precision medicine. Here, by considering functional interindividual variability as meaningful data rather than noise, we introduce VarCoNet, an enhanced self-supervised framework for robust functional connectome (FC) extraction from resting-state fMRI (rs-fMRI) data. VarCoNet employs self-supervised contrastive learning to exploit inherent functional interindividual variability, serving as a brain function encoder that generates FC embeddings readily applicable to downstream tasks even in the absence of labeled data. Contrastive learning is facilitated by a novel augmentation strategy based on segmenting rs-fMRI signals. At its core, VarCoNet integrates a 1D-convolutional neural network (CNN) with a Transformer encoder for advanced time-series processing, enhanced with robust Bayesian hyperparameter optimization. Our VarCoNet framework is evaluated on two downstream tasks: (i) subject fingerprinting, using rs-fMRI data from the Human Connectome Project (2117 recordings), and (ii) autism spectrum disorder (ASD) classification, using rs-fMRI data from the Autism Brain Imaging Data Exchange (ABIDE) I (995 recordings) and II (730 recordings) datasets. Using different brain parcellations, our extensive testing against state-of-the-art methods, including 13 deep learning methods, demonstrates VarCoNet’s superiority, robustness, interpretability, and generalizability, achieving up to 98% subject fingerprinting accuracy and an area under the curve (AUC) of 72.6% for ASD classification. Overall, VarCoNet provides a versatile and robust framework for FC analysis in rs-fMRI.
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13. Luyster R, Greene-Pendelton K, Arunachalam S. Inquiry and innovation: Considering curiosity and creativity in autism. Acta Psychol (Amst). 2026; 264: 106571.
Curiosity and creativity are faculties that support innovation, achievement and emotional well-being. They are early-appearing and lifelong, serving a critical role in human development. In this paper, we suggest that these essential capabilities have been broadly overlooked in our understanding and description of development in autistic individuals. We critically evaluate two assumptions: that curiosity and creativity are (1) diminished and/or (2) different in autism. In support of future research, we provide a number of suggestions for how we, and other important stakeholders like educators, parents, and providers, can deepen our appreciation for the ways in which curiosity and creativity might be expressed in autism. We also aim to highlight the ways in which curiosity and creativity can support personal growth and flourishing across the lifespan in autistic individuals, just as they do for nonautistic individuals.
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14. Metpally AR, Reddy A. The Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report. Psychopharmacol Bull. 2026; 56(2): 199-202.
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by cognitive impairment, behavioral dysregulation, and emotional lability. While it is primarily known as a leading cause of inherited intellectual disability, patients with FXS may also present with complex neuropsychiatric symptoms including attention-deficit/hyperactivity disorder (ADHD), anxiety, autistic features, irritability, and self-injurious behaviors as they progress through childhood and adolescence. As such, these patients require close monitoring and routine adjustment of behavioral and pharmacologic treatment. Although pharmacologic sensitivity and fluctuating clinical needs are well-documented in FXS, longitudinal management remains a clinical challenge and further complicated by variable treatment responses and frequent comorbidities such as autism spectrum disorder (ASD) and ADHD. We present longitudinal management of a genetically confirmed female with FXS who was followed from childhood into young adulthood. Her course was characterized by early emerging ASD features, severe ADHD, anxiety, episodic irritability, skin-picking, and comorbid epilepsy. Over time, stimulant medication, adjunctive clonidine, intermittent low-dose antipsychotic use, selective serotonin reuptake inhibitors, and antiseizure medications formed the core of treatment. Behavioral therapy, school-based supports, and caregiver training were consistently emphasized. Medication choices and dosing shifted in response to developmental stage, psychiatric symptom emergence, metabolic side-effects, neurologic comorbidity, and family preference. This case illustrates the need for continuous reassessment, metabolic and neurologic monitoring, and flexible, interdisciplinary management in patients with FXS and evolving psychiatric symptoms.
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15. Mi K, Cao M, Zhang L, Zhang Q, Zhou W, Deng C, Zhang Y, Zhao Q, Wei Y, Liu X, Li F. An integrative multi-omics approach identifies microbiome alterations linked to pathological and behavioral features in autism spectrum disorder. Cell Rep Med. 2026: 102655.
This study employs a multi-omics approach to investigate the gut-brain axis in 326 children with autism spectrum disorder (ASD) and 169 typically developing (TD) controls, aged 0-10 years. By analyzing neuroimaging, gut microbiome, and plasma metabolome data, we find that microbial features could accurately distinguish ASD from TD children. A key finding is that gut microbial abundance, particularly an increase in Clostridioides difficile, serves as the strongest predictor of both ASD symptom severity and brain structural variations. Crucially, these gut and brain differences are age dependent, diminishing as children with ASD aged and converging toward TD patterns. A mediation model suggests a potential pathway where specific microbes influence brain structure and behavior via metabolites. The findings establish the gut microbiota as a robust predictor of brain and behavioral phenotypes in pediatric ASD, underscoring the necessity for early, age-stratified therapeutic strategies via modulating the composition of the gut microbiome.
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16. Mortazavi M, Guevara J, Diaz J, Tran S, Ziaei Jam H, Reeves C, Batalov S, Jepsen K, Bainbridge M, Besterman AD, Gymrek M, Palmer AA, Sebat J. Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism. Cell Genom. 2026: 101186.
Long-read whole-genome sequencing (LR-WGS) technologies enhance the discovery of structural variants (SVs) and tandem repeats (TRs). We performed LR-WGS on 267 individuals from 63 autism spectrum disorder (ASD) families and generated an integrated call set combining long- and short-read data. LR-WGS increased detection of gene-disrupting SVs and TRs by 33% and 38%, respectively, and enabled identification of novel exonic de novo germline and somatic SVs. We observed complex SV patterns, including a class of nested duplication-deletion events. By joint analysis of phased genetic variation and DNA methylation, we identified deletions of imprinted genes and demonstrated the effect of intermediate TR expansions (35-54 CGG) on the methylation of FMR1 promoter. Rare SVs, TRs, and damaging SNVs together accounted for 7.4% (95% confidence interval [CI], 2.7%-17%) of the heritability of ASD. These findings demonstrate how LR-WGS can resolve complex genetic variation and its functional consequences and regulatory effects in a single assay.
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17. Nadwodny N, VanHook B, Esham B, Larsen LN, Levinson S, Eisenhower A. Good intentions are not enough: Autistic perspectives on structural ableism within the walls of our classrooms. Autism. 2026: 13623613261426691.
This study aimed to examine how structural ableism affects autistic learners by collecting first-person perspectives of current and former autistic students about how their school experiences shaped their ability to self-advocate. In addition, the study aimed to further highlight autistic perspectives by incorporating a community-participatory research design, which consisted of a primarily autistic research team. Participants consisted of 19 autistic adolescents and adults who represented a wide array of intersectional sociodemographic identities. Participants were engaged in a 90-min semi-structured interview to discuss their school experiences. Interviews were analyzed qualitatively and inductively through a critical constructivist approach to grounded theory. Data analysis highlighted many structural barriers to autistic self-advocacy for our participants. These barriers were described within six distinct domains which emerged as themes in our analysis: erasure, conformity, isolation, oppression, hidden expectations, and authority. This qualitative, community-participatory research study exposes the degree to which systems-level ableism exists within US K-12 systems. Specifically, our participants emphasized ableism that went beyond the individual or interpersonal level. We conclude with a series of recommendations on how to combat these manifestations of ableism in schools.Lay summaryThe goal of this study was to ask current and former autistic students about their school experiences and self-advocacy. Self-advocacy means being able to ask for what you need and to make your own choices. Nineteen autistic students were interviewed about self-advocacy at school. These autistic students told the research team that schools often made it hard for them to self-advocate. They also told the research team that schools were ableist, meaning that they did not respect the rights of disabled people. This study is important because it shows ways in which schools do not support autistic people and recommends ways for schools to treat autistic people better. This study is also important because the research team was mostly autistic. The expertise of autistic researchers on our team helped us create research that highlights autistic people’s voices.
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18. Nakatsuka S, Iwata Y, Ito H, Nakano Y, Mokuno K, Handa T. Successful Dichoptic Therapy for Amblyopia in a Child Unable to Tolerate Occlusion Therapy due to Autism Spectrum Disorder. Case Rep Ophthalmol Med. 2026; 2026: 9634126.
Children with autism spectrum disorder (ASD) often face challenges with occlusion therapy using eye patches owing to the sensory sensitivity, rigid behaviors, and communication difficulties associated with ASD. In this study, we report the case of a child with ASD who had significant difficulty with eye patch therapy for anisometropic amblyopia and was treated with visual acuity training using Occlu-pad, a dichoptic therapy device. This treatment led to marked improvement in visual acuity and high compliance. After 3 months of home-based therapy for 30 min per day, the best corrected visual acuity in the right eye improved from logarithm of minimum angle of resolution of 0.5 to 0.0, with an average compliance rate of 92%. This case highlights the importance of flexible treatment approaches tailored to individual patient characteristics in managing amblyopia in children with ASD and also demonstrates the potential utility of dichoptic therapy using Occlu-pad.
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19. Nell Y, Kritzinger A, Graham MA, Eccles R. Assessment accommodations for autistic learners in South African schools: Stakeholder perspectives. Afr J Disabil. 2026; 15: 1803.
BACKGROUND: Autistic learners benefit from demonstrating academic knowledge with the help of assessment accommodations, guided by South African examination policies, such as the National Policy Pertaining to the Conduct, Administration and Management of Examinations and Assessment for the National Senior Certificate Examination. However, stakeholder perspectives on accommodations remain under-explored. OBJECTIVES: This study explored stakeholder perspectives (autistic adults, caregivers, educators, psychologists, speech-language therapists and occupational therapists) on assessment accommodations for autistic learners in South African schools. METHOD: A web-based questionnaire was distributed nationally to professionals and caregivers (n = 92). Quantitative data were analysed descriptively, and qualitative responses were thematically coded. RESULTS: Stakeholders reported a persistent policy-practice disconnect, with educators lacking the knowledge of accommodation policies, as well as the training to implement accommodations, particularly for autistic learners. Similarly, current policies do not adequately accommodate the needs related to sensory regulation and anxiety. Considerable variability emerged in accommodation preferences, reflecting both the heterogeneity of autistic learners and the differences across stakeholder groups. Respondents also prioritised universal design elements such as simplified language, redundancy and clearer assessment layouts, which are not currently considered in South African policy. Overall, findings highlight the need for expanded and individually tailored assessment accommodations informed by diverse stakeholder input. CONCLUSION: The findings highlight a disconnect between policy and practice. Broader autism-specific accommodations are crucial to support equitable assessment conditions in South African schools, especially for learners with sensory and communication challenges. CONTRIBUTION: This study provides insight into stakeholder experiences and suggests that current assessment policies may inadvertently exclude autistic learners. The findings support the need for inclusive, contextually relevant assessment strategies. The contribution aligns with the focus of the journal on disability inclusion by advancing evidence-based recommendations that promote full participation of neurodivergent learners in education systems, particularly within under-resourced and diverse settings.
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20. Park CS, Jang M, Kim B, Kwak S, Rhee TM, Lee H, Kim HK, Kim YJ, Kim JW, Han K, Park JB. Maternal smoking based on pre-birth health examination and risk of neurodevelopmental disorders in offspring: insights from a Korean mother-child cohort. BMC Med. 2026; 24(1).
BACKGROUND: Neurodevelopmental disorders affect a substantial proportion of children and often persist into adulthood, with lifelong consequences. We investigated the association between maternal smoking and neurodevelopmental disorders in offspring. METHODS: We performed a nationwide population-based mother-child cohort study of infants born between 2009 and 2018. Maternal smoking status was obtained from the closest NHIS general health examination conducted within 2 years prior to delivery and categorized as never, former, or current smokers. Offspring were followed up until 2021 for diagnoses of intellectual disability, autism spectrum disorder (ASD) (ascertained through governmental disability registration), and attention-deficit/hyperactivity disorder (ADHD) (ascertained through insurance records). RESULTS: Among the 861,876 offspring (51.4% boys; median follow-up 8.3 years), 790,728 (91.7%) were born to never-smoking mothers, 36,046 (4.2%) to former smokers, and 35,102 (4.1%) to current smokers. Offspring of women with any history of smoking had a higher cumulative incidence of all neurodevelopmental disorders than those of never smokers (all log-rank P < 0.001). After multivariate adjustment, maternal smoking was associated with a significantly increased risk of each outcome. Compared with offspring of never smokers, offspring of former smokers had hazard ratios (HRs) of 1.21 (95% confidence interval [CI] 1.04-1.41) for intellectual disability, 1.29 (95% CI 1.10-1.51) for ASD, and 1.18 (95% CI 1.12-1.26) for ADHD. Compared with offspring of never smokers, offspring of current smokers had higher risks (HR 1.44, 95% CI 1.25-1.66 for intellectual disability; HR 1.52, 95% CI 1.31-1.76 for ASD; HR 1.35, 95% CI 1.27-1.42 for ADHD). HR varied across pack-year tertiles among both former and current smokers; elevated risk estimates were observed even in the lowest tertile, particularly among current smokers across outcomes and among former smokers for intellectual disability and ADHD, without a strictly monotonic gradient. CONCLUSIONS: Maternal smoking status as assessed from pre-birth health examinations was associated with increased risks of intellectual disability, ASD, and ADHD in their offspring. These findings support public health efforts to reduce smoking in women of reproductive age.
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21. Rubinshtein D, Zamstein O, Wainstock T, Sheiner E. Gestational diabetes mellitus and the risk of autism spectrum disorder in offspring: a population-based retrospective cohort study. Front Clin Diabetes Healthc. 2026; 7: 1754571.
BACKGROUND: While several environmental and perinatal factors have been associated with the development of autism spectrum disorder (ASD), there is still much to uncover. In this study, we investigated the possible association between gestational diabetes mellitus (GDM), a condition that is becoming more widespread worldwide, and the risk of ASD. METHODS: A population-based retrospective cohort study was conducted using data from a tertiary referral hospital and affiliated community clinics. ASD diagnoses were identified through centralized outpatient and hospital records and were established by qualified specialists in accordance with DSM-5 criteria during long-term childhood follow-up. The incidence of ASD in offspring was compared between pregnancies complicated by GDM, categorized as A1 (diet-controlled) or A2 (requiring pharmacologic treatment), and pregnancies without GDM. Cumulative incidence of ASD was estimated using Kaplan-Meier survival analysis, and a Cox proportional hazards model was applied to adjust for potential confounders. RESULTS: Among 115,063 deliveries included in the study, 3,461 (3.0%) were complicated by GDM A1 and 1,164 (1.0%) by GDM A2. Overall, 767 offspring were diagnosed with ASD during childhood. Univariate analysis demonstrated a statistically significant association between GDM severity and ASD incidence (1.5% for GDM A2, 1.0% for GDM A1, and 0.6% for no GDM; p<0.001). Kaplan-Meier analysis demonstrated a significant difference in cumulative ASD incidence across GDM subtypes (log-rank p<0.001). However, after adjustment for confounders in a multivariable Cox model, neither GDM A1 nor GDM A2 was statistically significantly associated with ASD risk (aHR 1.18, 95% CI 0.83-1.66; aHR 1.56, 95% CI 0.95-2.56, respectively). CONCLUSION: Our findings suggest no statistically significant association between GDM and ASD in offspring after adjustment.
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22. Santos J, Santos LSD, Gonçalves CL. Brazil’s first national census estimate of autism prevalence: Implications for surveillance and policy in the Global South. Autism. 2026: 13623613261428537.
Autism prevalence data remain scarce in low- and middle-income countries. In 2022, Brazil incorporated, for the first time, a specific question on prior medical diagnosis of autism in its national census. Results from the preliminary publication of the 2022 Census sample, released in 2025, indicated that 1.2% of the population, approximately 2.42 million individuals, reported a diagnosis of autism. Among boys aged 5 to 9 years, prevalence reached 2.6%, declining to 1.6% among adolescents and 0.3% among adults aged 30 years or older. Although based on self-reported diagnosis, these data provide the first nationwide population estimate of autism in Brazil. Comparisons with U.S. figures from the Autism and Developmental Disabilities Monitoring Network should be interpreted cautiously given methodological differences. The observed age gradient suggests potential historical under-identification in older cohorts. Regional variation further highlights differences in diagnostic patterns across the country. The inclusion of autism in Brazil’s national census represents an important step toward strengthening surveillance, research, and policy planning in low- and middle-income settings.Lay AbstractIn 2022, Brazil included, for the first time, a specific question on medical diagnosis of autism in its national census, as mandated by federal law. Results from the 2025 preliminary publication of the Census sample showed that 1.2% of the population reported a prior medical diagnosis of autism, totaling about 2.42 million people. Among boys aged 5 to 9 years, prevalence reached 2.6%, while rates were lower among adolescents and adults. This age pattern may reflect historical differences in access to diagnosis. Regional variation was also observed across states. Including autism in Brazil’s national census represents a major step forward for epidemiological monitoring and policy planning in Latin America.
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23. Shen H, Zou Z, Jia S, Wang Q, He Z, Chen M, Zhang Z. Motor skills influence social function through health-related fitness in children with autism: a cross-sectional study. Front Public Health. 2026; 14: 1758323.
OBJECTIVE: To examine whether health-related physical fitness mediates the association between fundamental motor skills (FMS) and social functioning in school-age children with autism spectrum disorder (ASD). METHODS: A total of 117 school-age children with ASD were recruited from special education schools. FMS were assessed using the Test of Gross Motor Development-3 (TGMD-3). Social functioning was evaluated using the Social Responsiveness Scale-2 (SRS-2), with higher scores indicating greater social impairment. Health-related physical fitness was assessed via body mass index, flexibility (sit-and-reach), muscular strength (handgrip), muscular power (standing long jump), balance (one-leg stance), and vital capacity. Pearson correlation analyses and structural equation modeling with bias-corrected bootstrapping (5,000 resamples) were conducted to test mediation effects. RESULTS: Higher FMS scores were associated with lower SRS-2 scores, indicating better social functioning (r = -0.312, p < 0.001). Several health-related physical fitness components, particularly handgrip strength and flexibility, were significantly associated with both FMS and social functioning. Structural equation modeling demonstrated a full mediation effect, whereby health-related physical fitness significantly transmitted the association between FMS and social functioning (indirect effect B = -2.111, 95% CI [-3.576, -1.189]), while the direct effect was not significant (B = -0.095, 95% CI [-1.193, 1.274]). Model fit indices indicated an excellent fit. CONCLUSION: Health-related physical fitness, especially muscular strength and flexibility, appears to be a key mechanism linking motor skill proficiency to social functioning in children with ASD. Interventions that integrate strength and mobility training with motor-skill practice may enhance social outcomes in this population.
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24. Tarquinio D, Wheless JW, Segal EB, Rabinowicz AL, Carrazana E. Safety and effectiveness of diazepam nasal spray in patients with Rett syndrome and seizure clusters: post hoc analyses from a long-term safety study and survey of severity and burden. Front Neurol. 2026; 17: 1702423.
INTRODUCTION: Rett syndrome is a neurodevelopmental disorder associated with epilepsy that influences motor/communication skills, behavior, and other systems. Clinical experiences for these patients are not well described. METHODS: This post hoc analysis consists of a patient subgroup with Rett syndrome enrolled in an open-label, single-arm, safety study. Age- and weight-based doses of diazepam nasal spray (5-20 mg) were administered to patients (aged 6-65 years) for seizure clusters. Treatment-emergent adverse events (TEAEs) were recorded, and days between seizure clusters (SEIzure interVAL [SEIVAL]) from Period 1 (P1; days 1-90) to Period 4 (P4; days 271-360) were calculated. Caregivers completed surveys describing experiences with diazepam nasal spray and Rett syndrome. RESULTS: Rates of TEAEs (87.5%), serious TEAEs (12.5%), and treatment-related TEAEs (18.8%) in patients with Rett syndrome (n = 16) who received diazepam nasal spray were comparable to the overall pediatric safety population (87.2, 35.9, and 14.1%, respectively; n = 78), as was use of second doses (proxy for effectiveness) (18.4 and 11.4%). Increase in SEIVAL was also similar (P1 = 7.6, P4 = 25.0 days and P1 = 13.0, P4 = 25.9 days). Most (n = 12; 75.0%) remained in the study ≥12 months. All caregivers felt diazepam nasal spray was very/extremely easy to use; 63.6% were able to return to normal activities within an hour of administration. Caregiver perceptions of clinical severity and caregiver affect were stable from baseline to final visits; scores for individuals using diazepam nasal spray were numerically higher. CONCLUSION: Diazepam nasal spray has safety and effectiveness profiles consistent with the full study population and was easy to use. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, NCT02721069.
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25. Thabault M, Galvan L. From Balance to Breakdown: striatal PV interneurons in Huntington’s disease and Autism Spectrum Disorder. Front Cell Neurosci. 2026; 20: 1717636.
Once relegated to the background of striatal circuitry, parvalbumin-expressing interneurons are now emerging as central players in health and disease. Acting as true gatekeepers, striatal PV interneurons are well-described for their role in synchronizing striatal output and balancing excitation and inhibition to sustain coordinated motor and cognitive functions. In this review, we highlight recent advances in understanding their developmental origins, molecular identity, physiological properties, and their roles in striatal function. Furthermore, we examine converging evidence implicating PV interneurons in Huntington’s disease and Autism Spectrum Disorder, where their structural, molecular, and functional alterations position them at the intersection of neurodegenerative and psychiatric research.
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26. Varbanov V, Overton PG. Visual orientation discrimination in adults with ADHD and ASD: the differential impact of clinical diagnosis and trait severity. Front Psychiatry. 2026; 17: 1754032.
OBJECTIVES: This study aimed to clarify whether clinical diagnosis, as opposed to trait severity alone, differentiates sensory processing profiles in adults with ADHD and ASD. Specifically, we compared clinical and non-clinical cohorts matched on standardized self-report measures to test the impact of diagnosis on visual orientation discrimination. METHODS: A total of 152 adults were assigned to four matched groups: clinical ADHD, non-clinical ADHD, clinical ASD, and non-clinical ASD (n = 38/group). ADHD and ASD traits were assessed using the Adult ADHD Self-Report Scale (ASRS) and Broad Autism Phenotype Questionnaire (BAPQ). Sensory performance was measured using a visual orientation discrimination task (with vertical and oblique conditions). Propensity score matching and ANCOVAs (controlling for age/gender) were used to ensure comparability between the clinical and non-clinical groups. RESULTS: Clinically diagnosed ADHD participants displayed significantly poorer oblique orientation sensitivity than non-clinical controls, while clinical ASD participants exhibited superior vertical orientation discrimination compared to their matched non-clinical group. No significant differences were found for vertical thresholds in ADHD and oblique thresholds in ASD. These patterns remained after controlling for age and gender, indicating disorder-specific sensory trajectories, with bidirectional effects of severity and/or clinical diagnosis on sensory performance. CONCLUSIONS: Findings suggest that clinical diagnosis captures qualitative as well as quantitative differences not reflected by trait severity alone. Within visual orientation discrimination, ADHD and ASD showed different patterns of diagnostic modulation that are consistent with dimensional and dimensional-categorical (hybrid) interpretative frameworks, respectively.
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27. Wang X, Yu K, Liu S, Liang C, Wang Z. Through the long dark night: A phenomenological exploration of treatment-seeking experiences for autism in resource-limited settings. Autism. 2026: 13623613261426648.
Autism care in resource-limited regions faces systemic delays and fragmented services, yet the treatment-seeking experiences of families remain poorly understood. This study aimed to explore the experience of treatment-seeking for families with autistic children in resource-limited settings. A phenomenological study was conducted across three resource-limited regions. Semi-structured interviews with 44 caregivers were analyzed using Colaizzi’s framework and qualitative analysis software (NVivo 12). Data analysis identified eight subthemes falling into three macrothemes: (1) Socio-cognitive barriers in symptom recognition; (2) Structural vulnerabilities in care access; (3) Transformative adaptation pathways. The treatment-seeking journeys of families with autistic children in resource-limited settings are shaped by culturally rooted symptom misinterpretations, structural inequities, and adaptive resilience through redefined success metrics. These intersecting challenges trap families in cycles of delayed care and financial strain. Integrated community-based early screening, subsidized tiered services, and long-term care policies are urgently needed to alleviate familial strain and bridge systemic care gaps.Lay AbstractThis study explores the experiences of families seeking autism care in areas with limited resources. Through interviews with 44 caregivers across three regions in China, we found that misunderstandings about early autism symptoms, combined with limited access to specialized services, often lead to delayed diagnosis and high financial costs. Families also face emotional challenges and social stigma. Over time, many develop resilience by adjusting their expectations and finding support within their communities. The study highlights an urgent need for earlier community-based screening, affordable interventions, and stronger long-term support policies to better assist autistic children and their families.
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28. Willbrand EH, Martinez E, Ludwig JJ, Maboudian SA, Weiner KS. Anterior cingulate folding pattern is altered in autism spectrum disorder. Cereb Cortex. 2026; 36(3).
Neuroimaging research has identified focal differences in the cerebral cortex of individuals with autism spectrum disorder (ASD), particularly in the folds (sulci) within higher-level association cortices. This study examined sulcal patterning and morphology of the anterior cingulate cortex (ACC) in individuals with ASD compared to neurotypical (NT) individuals. We used neuroimaging data from 100 NT and 100 ASD male participants (ages 5 to 18), split into equal discovery and replication samples. Using established criteria, we manually identified the variably present paracingulate sulcus (PCGS), a defining sulcal feature of ACC, in each participant. Quantitative morphological features (length, depth, and cortical thickness mean and standard deviation) were extracted from the PCGS using FreeSurfer. Analyses revealed that, in both samples, NT participants were more likely to have asymmetrical PCGS patterns than ASD participants (controlling for age, IQ, and scanner site). No quantitative morphological features differed between groups. These findings suggest the presence of a variation in the prenatal neurodevelopment of ACC in young males with ASD; however, further research is necessary to uncover the role of this observed difference in the pathogenesis of ASD. The present study also adds to the growing literature implicating variations in PCGS patterning as a trait marker across multiple disorders.
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29. Yong TY, Zhen CY, John J, Danaee M, Marchini L, Marya A, Kusdhany LS, Gonzalez MAG, Bhuvaneswari B, Wimardhani YS, Indrasari M. Validation of Ageism Scale for Dental Students (ASDS) in a Multicultural South and Southeast Asian Context. Spec Care Dentist. 2026; 46(2): e70152.
OBJECTIVES: Global populations are ageing rapidly, especially in Asia. The Ageism Scale for Dental Students (ASDS) was developed in 2018 to assess ageism among dental students. This study aims to validate the ASDS in a multicultural, multi-center Asian context to establish a robust tool for future educational and interventional research in gerodontology education. METHODS: The original 27-items ASDS was distributed to dental students from five dental schools in Cambodia, India, Indonesia, Malaysia, and Philippines. Data were randomly split for Exploratory Factor Analysis (EFA; n = 400) and Confirmatory Factor Analysis (CFA; n = 355). Sampling adequacy and Bartlett’s test were assessed. EFA employed Oblimin rotation, polychoric correlation matrix and maximum likelihood extraction with iterative item removal. Reliability and internal consistency were evaluated with Cronbach’s alpha; convergent and discriminant validity were also examined. RESULTS: EFA revealed 20-items five-factor structure explaining 55.2% of the variance namely therapeutic nihilism, empathy and advocacy, perceived noncompliance and oral health neglect, perceived clinical burden, and confidence and competence. Cronbach’s alpha values ranged from 0.742 to 0.839. CFA of the modified model, with 2 items removed, confirmed the five-factor structure with 2-6 items per factor distribution, and good model fit indices (χ(2)/DF = 3.717, CFI = 0.968, GFI = 0.993, SRMR = 0.055, RMSEA = 0.088). Four factors demonstrated strong convergent validity (AVE ≥ 0.50), while discriminant validity was supported for all factors (HTMT < 0.85). CONCLUSION: The modified 18-item ASDS demonstrated robust reliability and validity across the five Asian countries, confirming its utility as a cross-cultural tool for assessing ageism in dental education and guiding the development of culturally sensitive strategies to prepare students for geriatric care.
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30. Zheng Y, Yang Y, He L, Chen H, Wang D, Chen Y. A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report. Transl Pediatr. 2026; 15(2): 61.
BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disease with clear diagnostic criteria and mainly affects females. Mutations of the methyl-CpG-binding protein 2 (MECP2) gene cause most RTT cases. While numerous MECP2 mutations have been reported, the pathogenicity of novel identified variants often requires functional validation. To obtain a definite genetic diagnosis result and determine the specific pathogenesis, it is essential to conduct functional validation of the novel mutation. CASE DESCRIPTION: We reported one clinical case of a female child diagnosed with typical RTT. The patient presented with major clinical manifestations, including hand dyspraxia, loss of language ability, stereotypical hand movements, and an abnormal gait. Whole-exome sequencing (WES) was performed on this Chinese trio, which confirmed a novel heterozygous nonsense mutation in exon 1 of the MECP2 gene in the proband. Sanger sequencing confirmed that neither parent carried this variant. Functional validation experiments demonstrated that cells transfected with the mutant recombinant plasmid showed significantly reduced levels of both MECP2 messenger RNA (mRNA) and protein compared to those transfected with the wild-type plasmid. CONCLUSIONS: These functional findings confirm the pathogenicity of this de novo MECP2 nonsense mutation and demonstrate that it leads to a loss of function, a mechanism consistent with nonsense-mediated mRNA decay (NMD). Our study elucidates the genotype-phenotype correlation in this case and provides experimental insight into the underlying molecular mechanism.
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31. Zukerman G, Ben-Itzchak E. Compulsion Profile Differences Indicate Distinct Functional Mechanisms in Autistic and Non-Autistic University Students. Autism Res. 2026: e70215.
Autistic individuals often exhibit high rates of obsessive-compulsive symptoms (OCS), yet traditional cognitive-behavioral therapy (CBT), especially exposure and response prevention (ERP), tends to be less effective for them. This may be due to differences in the function of compulsive behaviors: while OCD-related compulsions are typically ego-dystonic and aimed at reducing anxiety, autistic compulsions may be ego-syntonic, serving regulatory or sensory modulation purposes. This study investigated whether compulsions in autism are more aligned with regulation and sensory modulation than with anxiety reduction. Participants included 39 autistic university students, 25 non-autistic students with high OCS, and 25 non-autistic students with low OCS. A factor analysis of seven binary items from the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS-I) revealed two factors explaining 58% of the variance. The first factor showed high loadings for Repetition, Counting, and Hoarding compulsions, reflecting regulatory and sensory modulation processes. The second factor showed high loadings for checking and organizing compulsions that were previously associated with anxiety reduction. Chi-square analyses showed autistic students reported significantly more regulatory/sensory compulsions than low-OCS individuals. For anxiety-reduction compulsions, autistic students reported significantly fewer positive responses than both non-autistic groups. Trait and state anxiety correlated with OCS levels in non-autistic participants, but not in autistic individuals. These findings indicate that compulsions in autism may reflect distinct functional mechanisms compared to those in classical OCD. Specifically, the weaker association with anxiety or threat reduction suggests that ERP-based CBT, which targets anxiety-driven compulsions, may be less effective for autistic individuals. Broader implications for both diagnosis and therapeutic approaches are discussed. This study examined how physical activity and motivation for fitness are related to psychological well‐being following exposure to a large‐scale traumatic event. Results showed that people who engaged in more vigorous physical activity reported fewer physical stress symptoms, while those who strongly valued maintaining physical fitness reported greater happiness and fewer somatic complaints–especially among individuals directly exposed to trauma. These findings suggest that both engaging in physical activity and valuing physical fitness may help support psychological recovery following severe traumatic experiences. eng.