Pubmed (TSA) du 28/04/26
1. Abu Bakar MRR, Dahlan A, Zaini ZI, Mohd Rasdi HF. Exploring Occupational Therapists’ Sleep Intervention Approaches and Perspectives for Children With Autism Spectrum Disorder: A Malaysian Qualitative Study. Occup Ther Int;2026;2026(1):e5593400.
INTRODUCTION: Children with autism spectrum disorder (ASD) frequently experience significant sleep disturbances, adversely affecting their health and family well-being. Despite the high prevalence, limited research exists on sleep interventions employed by pediatric occupational therapists (OTs) in Malaysia. This study explores the types of sleep interventions used and the perspectives of pediatric OTs in managing sleep disturbances among children with ASD. METHODS: An exploratory qualitative design was adopted. Data were collected through two focus group discussions (FGDs) with 10 pediatric OTs from private rehabilitation centers in northern Malaysia. Thematic analysis followed Braun and Clarke’s six-step process, with researcher reflexivity and collaborative coding employed to ensure rigor. RESULTS: Participants identified a multimodal approach including behavioral strategies (e.g., visual schedules), sensory-based techniques (e.g., deep pressure), physical activity, and environmental modifications. A structured clinical decision pathway emerged, prioritizing sensory regulation as a physiological prerequisite for behavioral success. Parental involvement was highlighted as critical, though moderated by socioeconomic and cultural factors such as cosleeping. Notably, therapists perceived improvements in children’s sleep quality and reductions in parental stress. CONCLUSION: This study underscores the value of a culturally responsive and modular approach to sleep interventions within the private pediatric OT landscape of northern Malaysia. The findings provide a foundational framework for future quantitative research to establish objective effectiveness. The results advocate for enhanced awareness, specialized training, and framework-aligned assessment tools to support families and therapists.
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2. AlHadi NE, Albuainain HM, Jadah RH. A 4-Year-Old Bahraini Girl With Developmental Delay and Epilepsy of Infancy With Migrating Focal Seizures Associated With KCNT1 Gene Mutation. Am J Case Rep;2026 (Apr 28);27:e951892.
BACKGROUND Potassium sodium-activated channel subfamily T member 1 (KCNT1)-related developmental and epileptic encephalopathy (DEE) is a rare and serious neurological condition attributed to damaging alterations in the KCNT1 gene, which encodes a sodium-activated potassium channel involved in neuronal excitability. It typically manifests in infancy with drug-resistant seizures, developmental delay, and hypotonia. Diagnosis is determined using whole-exome sequencing. Although KCNT1-related epilepsy is considered as a rare disorder, reporting such individual cases may help broaden the clinical and genetic spectrum of this condition. This report describes a Bahraini girl who first presented with symptoms at 2 weeks of age and at the time of this report was 4 years old, with developmental delay and epilepsy of infancy with migrating focal seizures (EIMFS), and early-onset DEE, associated with KCNT1 gene mutation. CASE REPORT A previously healthy term female baby presented at 2 weeks of age with focal seizures that progressed to intractable migrating focal epilepsy. At 4 months, she developed developmental regression, losing the ability to roll over, social-smile, and make eye contact. Neurological examination revealed central hypotonia with poor visual interaction. Electroencephalogram (EEG) showed multifocal epileptiform discharges with migrating seizure activity. Brain magnetic resonance imaging (MRI) and metabolic investigations were normal. Whole-exome sequencing identified a heterozygous KCNT1 variant, confirming developmental and epileptic encephalopathy type 14 (DEE14). CONCLUSIONS This case highlights the importance of timely genetic testing in infants showing severe epilepsy and developmental issues. To better understand the phenotypic variability and clinical course of KCNT1-related epileptic encephalopathy, more case reports are required. Identifying a KCNT1 mutation provides diagnostic clarity, supports precise prognosis and genetic counseling, and may help evaluate future targeted treatments.
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3. Amanzai H, Stafford A, Wang BQ, Guruge S, Catallo C, Nishi S, Walton N, Borges A, Sediq M, Joy P. Bridging the Gap: Barriers to Access Autism Support for Immigrant and Refugee Communities in Canada and the United States. J Transcult Nurs;2026 (Apr 27):10436596261441556.
OBJECTIVE: Autism spectrum disorder (ASD) affects one in 50 children in Canada and one in 31 children in the United States. This scoping review aimed to identify barriers immigrant families encounter when accessing ASD services. METHOD: Guided by the Joanna Briggs Institute framework, databases including CINAHL, Nursing & Allied Health Premium, PsycINFO, and Google Scholar were searched for peer-reviewed studies published within the past 10 years. A total of 12 studies examining immigrant parents’ experiences accessing ASD services through health or education systems were included. RESULTS: Immigrant families reported barriers across cultural, systemic, and structural domains. Several studies also identified facilitators, such as bilingual providers and community-based support networks, which improved service access and trust. CONCLUSION: Findings indicate that immigrant families experience multiple, overlapping barriers that delay diagnosis and intervention. Addressing culturally responsive care, interpreter access, and service coordination is essential to improving equitable access to ASD services in Canada and the United States.
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4. Carlucci NSS, Favilla BP, Nunes BC, de Lima FT, Melaragno MI, Pilotto RF, de Avó L, Germano CMR, Melo DG. Family quality of life in the context of Rett syndrome: insights from Brazilian families. J Community Genet;2026 (Apr 28);17(3)
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5. Chavez J, Le AA, Lauterborn JC, Cox BM, Jia Y, Lynch G, Gall CM. Lasting effects of early-life oxytocin treatment on LTP and episodic memory in a mouse model of Fragile X syndrome. Neuropsychopharmacology;2026 (Apr 28)
Deficits in episodic memory are a debilitating feature of Fragile X syndrome (FXS) and other congenital autism spectrum disorders (ASDs). There is evidence that oxytocin (OXT) treatments can improve sociability in persons with ASD and related animal models, encouraging the idea that benefits might extend to cognitive function. We tested this possibility in male FXS model, Fmr1-knockout (KO) mice. Intranasal treatments with OXT or saline were given daily during the second or fifth postnatal week, and effects on social behavior, spatial and episodic memory, and hippocampal synaptic plasticity were assessed in adulthood. Saline-treated Fmr1-KOs exhibited profound deficits in social recognition, object location memory, what-when-where components of episodic memory and long-term potentiation (LTP) in both the CA3-CA1 and lateral perforant path (LPP) systems; NMDAR-mediated components of LPP responses were also impaired. OXT treatments during the second week postnatal normalized all of these functions in Fmr1-KOs assessed in adulthood; this included restoration of initial stages of CA3-CA1 LTP and granule cell NMDAR-mediated currents. In hippocampal slices from naïve adult male Fmr1-KO mice, bath-applied OXT treatment restored LTP in CA1 but not the LPP, indicating pathway-specific effects. Intranasal OXT treatments during the 5(th) week postnatal did not have enduring effects in either genotype. The present evidence that early OXT treatment corrects a broad range of cognitive and synaptic plasticity deficits in Fmr1-KO mice identifies a clinically plausible strategy for normalizing hippocampal function in ASD and FXS, and highlights the presence of a critical developmental window for effective intervention.
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6. Dayal H, Juneja M, Mishra D, Gupta A, Jain R, Sairam S. Parental autistic traits and neurodevelopmental outcomes in children with autism spectrum disorder: a family phenotype perspective. Dev Neurorehabil;2026 (Apr 28):1-9.
BACKGROUND: Parents of children with Autism Spectrum Disorder (ASD) often exhibit subclinical autistic traits, known as the Broad Autism Phenotype (BAP). While BAP is recognized as a familial characteristic associated with ASD, limited evidence exists regarding how specific parental traits relate to children’s behavioral, adaptive, and developmental outcomes in low- and middle-income clinical settings. Understanding these associations may be relevant for developmental and neurorehabilitation contexts in which parent – child interaction plays an important role in the child’s learning environment. METHODS: This descriptive cross-sectional study included 95 children (aged 2-12 years) newly diagnosed with ASD and both biological parents, recruited from a tertiary Child Development Center. Child autism severity was assessed using the Childhood Autism Rating Scale-2 (CARS-2); adaptive functioning using the Vineland Adaptive Behavior Scales – II (VABS-II); behavioral problems using the Child Behavior Checklist (CBCL); and developmental level using the Developmental Profile-3. Parental autistic traits were measured using the Autism-Spectrum Quotient (AQ). Correlation and regression analyses were used to examine associations between parental AQ traits and child outcomes. RESULTS: BAP (AQ ≥ 23) was present in 50% of mothers and 47% of fathers. Total parental AQ scores were not associated with child autism severity. However, higher parental communication-trait scores were associated with greater externalizing behavior in children (p < .05). Certain parental AQ subdomains, particularly communication and attention-to-detail traits, showed modest negative correlations with children's motor functioning and developmental level. In multivariable analysis, paternal communication traits remained independently associated with poorer motor skills (β = -0.276, p = .034). CONCLUSIONS: Parental BAP traits, particularly those related to communication and social reciprocity, may be associated with variability in behavioral, motor, and developmental outcomes in children with ASD. Although parental traits were not associated with autism severity, these findings suggest that considering family phenotype may be relevant when examining child developmental profiles within family-centered neurodevelopmental and rehabilitation frameworks. Further longitudinal research is needed to clarify the nature and direction of these relationships. Provides data on BAP traits among Indian parents of children with ASD.Parental communication traits linked to child behavior and developmentParental autistic traits correlate with child motor and adaptive outcomesHighlights cultural influences on BAP expression in LMIC clinical settingsSuggests potential value of considering family phenotype in neurorehabilitation planning. eng
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7. Eleonora B, Stefano S, Chiara P, Michela B, Fabio A, Romina C, Valeria C, Chiara F, Roberta I, Alice M, Beatrice M, Lucia P, Raffaella T, Sara C. Brief-Report: Associations Between Early Sensory Processing and Emotional-Behavioral Dysregulation in Autistic Toddlers. J Autism Dev Disord;2026 (Apr 28)
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8. Hartwig M, Pires EU, Ritvo-Slifka RA, de Souza IE. Cross-cultural Adaptation of the RAADS-R to Brazilian Portuguese: Ritvo Autism Diagnostic Scale-Brazilian Version (RADS-R-BR). J Autism Dev Disord;2026 (Apr 28)
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9. Kang N, Yang Z, Petrick LM, Rahman MM, Pavlovic N, Lurmann FW, Martinez MP, Yu X, Chow T, Eckel SP, Schwartz J, Chen JC, McConnell R, Xiang AH, Chen Z. Newborn metabolomics linking prenatal air pollution exposure and autism spectrum disorder risk in children. J Expo Sci Environ Epidemiol;2026 (Apr 27)
BACKGROUND: Autism spectrum disorder (ASD) is a major cause of childhood disability, and prenatal exposure to fine particulate matter (PM₂.₅) and traffic-related nitrogen oxides (NOₓ) has been associated with increased ASD risk. However, the biological mechanisms linking these exposures to ASD remain poorly understood. OBJECTIVE: To identify neonatal metabolic pathways associated with prenatal exposure to PM₂.₅ and non-freeway NOₓ and their relevance to ASD risk using untargeted metabolomics. METHODS: We conducted a matched case-control study of 50 children diagnosed with ASD before age five and 50 controls, matched on birth year, sex, race/ethnicity, and medical center, from births at Kaiser Permanente Southern California (2007-2009). Prenatal PM₂.₅ and non-freeway NOₓ exposures were estimated using high-resolution spatial models based on residential histories. Metabolomic profiling was performed on newborn dried blood spots using a dual-platform LC-MS workflow: HILIC chromatography with positive ESI and C18 reversed-phase chromatography with negative ESI. We used conditional logistic and linear regression adjusted for matching factors and key child and maternal covariates to evaluate associations among metabolomic features, ASD, and prenatal air pollution. Pathway enrichment analyses were conducted using mummichog and MetaboAnalyst. RESULTS: Aspartate and asparagine metabolism was significantly associated with ASD (p = 0.01), and with exposure to PM₂.₅ during the first trimester and entire pregnancy (p < 0.001), and non-freeway NOₓ (p = 0.003). Glutamate, nitrogen, and sialic acid metabolism pathways were also commonly associated with both ASD and air pollution. Key metabolites-including L-asparagine, GABA (4-aminobutanoate), succinate semialdehyde, and L-glutamine-were implicated in these pathways, suggesting a link to oxidative stress and inflammation. SIGNIFICANCE: This study reveals dysregulated neonatal amino acid metabolism as a potential mechanism 49 connecting prenatal air pollution exposure to increased ASD risk. High-resolution 50 metabolomics in newborns can provide critical insights into early-life environmental 51 influences on neurodevelopment and inform future etiological research on ASD. IMPACT STATEMENT: This study demonstrates that prenatal exposure to air pollution-specifically PM₂.₅ and non-freeway traffic-related NOₓ-is associated with dysregulated neonatal amino acid metabolism detectable in newborn blood. Using untargeted metabolomics, we identified shared pathways linking these exposures and autism spectrum disorder (ASD), particularly those related to oxidative stress and inflammation. These findings suggest a potential biological mechanism connecting environmental exposures in utero with later neurodevelopmental outcomes. Our results highlight the value of newborn metabolomics as a tool for early biomarker discovery and underscore the importance of reducing prenatal air pollution exposure to support healthy brain development.
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10. Lee JH, Park J, Park YM, Park YB, Jung JH, Kim BS, Nam GE. Intellectual developmental disability and risk of developing depression in type 2 diabetes. Psychiatry Res;2026 (Apr 19);362:117178.
BACKGROUND: Type 2 diabetes (T2D) places substantial physiological and psychological demands on patients and is independently linked to an elevated risk of depression. Intellectual developmental disability (IDD) is likewise associated with metabolic disorders and a high prevalence of mood disturbances, yet communication barriers often delay diagnosis. Whether coexistence of IDD further amplifies the likelihood of new-onset depression in people with T2D remains unclear. We aimed to investigate the association between IDD and incident depression among Korean adults with T2D. METHODS: We analyzed 1,819,869 adults (≥ 20 years) with T2D who underwent the 2015-2016 Korea National Health Screening Program. Participants were classified as either IDD (n = 3665) or non-IDD groups. The primary outcome was new-onset depression identified up to 31 December 2022 following the health-screening date. Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for incident depression. RESULTS: Participants with IDD were younger (mean age: 49.2 vs. 58.0 years) and had a lower proportion of men (55.9% vs. 61.8%) than those without IDD. Over a median follow-up of 5.8 years, 14.8% developed depression, with an elevated risk in the IDD group (HR 1.65, 95% CI: 1.53-1.77). This association was consistent across IDD severity and was especially marked in individuals under 65 and with T2D duration under five years. CONCLUSIONS: Coexisting IDD and T2D are linked to higher depression risk. Our finding underscores the need for tailored interventions, improved caregiver awareness, and enhanced screening to address mental health disparities.
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11. Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, Jones EJH, Jones RM, Pickles A, State MW, Taylor JL, Veenstra-VanderWeele J. Author Correction: Autism spectrum disorder. Nat Rev Dis Primers;2026 (Apr 28);12(1)
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12. Pang T, Zheng X, Liu JJ, Lu L, Yang L, Chang S. Transcriptomic analysis in autism spectrum disorder suggests three molecular subtypes with distinct phenotypic profiles and functional pathways. Commun Biol;2026 (Apr 27)
Autism spectrum disorder (ASD) is highly heterogeneous. Molecular subtyping of ASD based on gene expression data will help address the biological heterogeneity of ASD. We analyze RNA-seq data from 1711 ASD samples, employing unsupervised non-negative matrix factorization (NMF) to identify subtypes, and characterize them with five categories: overall ASD symptoms, social-communication deficits, restricted-repetitive-stereotyped behaviors, cognitive-adaptive function and behavior problems. We also explore subtype-specific differentially expressed genes, functional pathways, and spatiotemporal/cell-type characteristics. NMF analysis identifies three ASD subtypes. The three subtypes exhibit different phenotypic patterns: Cluster 1 has severe restricted and repetitive behaviors, Cluster 3 mainly has social communication impairments, Cluster 2 presents milder symptoms and better cognitive function. Differential expressed genes analysis links Cluster 1 and Cluster3 to nervous system dysfunctions and morphogenesis of a branching structure, while Cluster 2 to immune system processes. The clusters also exhibit distinct gene expression patterns across brain regions, developmental stages, and cell types. Validation in two independent datasets confirms the reproducibility of the distinct clusters. This molecular subtyping reveals biologically and clinically distinct subtypes of ASD, helping to understand the atypical mechanisms underlying ASD heterogeneity. It also contributes to the development of personalized therapeutic strategies for distinct subtypes.
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13. Pievsky M, D’Sa V, Pina P. Creating a More Efficient and Equitable Autism Evaluation Pathway Through Integrated Behavioral Health in Pediatric Primary Care. R I Med J (2013);2026 (May 1);109(5):9-12.
BACKGROUND: Long wait times for autism spectrum disorder diagnostic evaluations delay access to early intervention and disproportionately affect Hispanic families and families who speak a primary language other than English. Integrated behavioral health models in pediatric primary care offer an opportunity to improve early identification, streamline referrals, and reduce inequities in access to specialty care. METHODS: We describe the implementation of a tiered, integrated autism screening and diagnostic pathway within Hasbro Children’s Pediatric Primary Care Clinic in Providence, Rhode Island. The pathway embeds behavioral health consultation and secondary autism screening into routine well-child visits for children ages 0-3. Children identified as at risk for autism receive expedited referral to specialty diagnostic evaluation using gold-standard assessment tools available in English and Spanish. Program evaluation includes comparison with two historical control groups (2018 pre-COVID and 2022 post-COVID) on wait times to specialty contact and diagnostic evaluation, as well as referral completion and connection to services. Patient experience is assessed using quantitative satisfaction measures and qualitative interviews within a quality improvement framework. RESULTS: The clinical pathway is currently active, and data collection is underway. Outcome data are not yet available. Early implementation demonstrates the feasibility of embedding secondary autism screening and care coordination within pediatric primary care and highlights the role of behavioral health integration in addressing delays in access to specialty services. CONCLUSIONS: A tiered, integrated autism evaluation pathway within pediatric primary care has the potential to reduce diagnostic delays, improve equity, and enhance family-centered care. Findings from ongoing evaluation will inform refinement and replication of this model in other primary care settings.
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14. Shek AK, Lui SSY, Lai ECL, Wong RWK, Chan JLF, Choi LY, Lam KHY, Lok EYC, Lam SM, Yi W, Chan RCK. A Network Analysis of Alexithymia, Interoception, Empathy, Self-Awareness and Psychopathological Symptoms in Young People With Autism Spectrum Disorder. Autism Res;2026 (Apr 28):e70265.
Autism Spectrum Disorder (ASD) is associated with altered interoception, empathy, self-awareness, and alexithymia. However, limited research has been conducted to investigate the interrelationships of these constructs with psychopathological symptoms. A prior network analysis in college students examined the interrelationship of these constructs and demonstrated that cognitive empathy and alexithymia influenced interoception and autistic features. We aimed to examine the interrelationships of these constructs in people with clinical ASD using network analysis. We recruited 208 young people aged 15-25 with Autism Diagnostic Observation Schedule (ADOS-2) confirmed diagnosis of ASD and administered self-report measures for interoception, empathy, self-awareness, and alexithymia. We constructed a regularized partial correlation network. The results showed the alexithymia node of « difficulty-describing-feelings-to-others » (expected influence (EI) = 0.854), interoceptive awareness (strength = 1.273; EI = -0.084), depressive symptoms (EI = 0.537), and anxiety symptoms (EI = 0.652) were important nodes. Our findings suggested that alexithymia, depressive, and anxiety symptoms influenced empathy, self-awareness, and autistic features in people with ASD and supported the important role of interoception in the network. Autistic people have diverse symptoms, such as difficulty‐to‐articulate emotion, low awareness of inner‐bodily signals, empathic difficulty, low self‐awareness, anxiety and depression. These symptoms mutually interact with each other, forming a symptom network. We assessed this complex symptom network in 208 autistic people aged 15–25. Difficulty‐to‐articulate‐emotion, anxiety, and depressive symptoms are important in bringing changes to the network. Low awareness of inner‐bodily signals is also important, because it connects most strongly with all the remaining symptoms in the network. eng
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15. Sheppard E, Clifton L, Massarella J, Mills Pallares G, Moynihan P, Warner M, Withey E. Effects of Diagnostic Information, Autism Knowledge, Contact, and Stigma on People’s Ability to Read Autistic Individuals. Autism;2026 (Apr 28):13623613261441153.
Non-autistic individuals find it difficult to read the behaviour of autistic people in comparison to non-autistic others. We investigated whether non-autistic people’s ability to read autistic individuals is improved by providing diagnostic information, and whether this ability is associated with a person’s knowledge about autism, prior contact with autistic people, and autism stigma. Participants (N = 128) viewed videos that were taken from a previous study. These showed autistic and non-autistic individuals reacting to events enacted by the researcher, and participants were asked to infer what event had taken place. Videos were presented either with no diagnostic information, a correct diagnostic label, or an incorrect label (autistic individuals labelled as non-autistic and vice versa). Autism knowledge, contact with autistic people, and autism stigma were measured by questionnaires. Participants performed less well for videos of autistic than non-autistic others. Diagnostic information had little impact on performance, although labelling non-autistic individuals as autistic reduced accuracy. Autism knowledge, contact with autistic people, and autism stigma were not associated with relative strength in interpreting the behaviour of autistic individuals. We conclude it might be difficult to train people to read autistic people’s non-verbal behaviour more effectively; instead, intervention might focus on raising awareness of this issue.Lay AbstractRecent research has shown that non-autistic people are prone to misinterpreting the behaviour of autistic individuals, which may contribute to the difficulties autistic people often experience during social interactions. This suggests that interventions should identify ways to improve other people’s ability to interpret autistic people’s behaviour. However, little is known about what circumstances may improve non-autistic people’s ability to read autistic others. This study investigated whether telling people that someone is autistic would improve their ability to interpret the behaviour of that person. We also investigated whether having more knowledge about autism, having previous contact with autistic people, or holding stigmatic attitudes about autism relates to this ability. The researchers used video clips that were recorded for a previous study. They showed autistic and non-autistic people reacting to aspects of the researchers’ behaviour, such as being told a joke or paid a compliment. Participants’ task was to watch the video clips and infer what the person in each video was reacting to and accuracy in doing so was recorded. The videos were presented with either no diagnostic information or with a diagnostic label alongside the video, which was either correct or inaccurate (labelling autistic individuals as non-autistic and vice versa). We used questionnaires to assess participants’ autism knowledge, previous contact with autistic people, and autism stigma. We found that participants had more difficulty judging the reactions of autistic individuals than the non-autistic individuals. Telling participants that a person was autistic did not make people better at interpreting their behaviour, although labelling non-autistic participants as autistic reduced accuracy. Knowledge about autism, previous contact with autistic people, and autism stigma did not relate to a person’s ability to interpret autistic people’s behaviour. This suggests that it may not be easy to create interventions to improve people’s ability to interpret the behaviour of autistic others. Intervention might focus on raising awareness of the need to avoid making assumptions based on the non-verbal behaviour of autistic people.
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16. Wang X, Dong XQ, Tao YW, Du XG, Zhao NX, Song HJ. Acupuncture and Tuina Combined with Educational Rehabilitation for Children with Autism Spectrum Disorder: Study Protocol for a Single-Center, Three-Arm, Pragmatic Randomized Controlled Trial. Neuropsychiatr Dis Treat;2026;22:587139.
BACKGROUND: The prevalence of autism spectrum disorder (ASD) is increasing globally. While educational rehabilitation is the standard of care, Traditional Chinese Medicine (TCM) techniques like acupuncture and tuina are widely used in China as adjunctive therapies, but high-quality evidence from rigorous clinical trials remains limited. The objective of this study is to evaluate the efficacy of acupuncture and tuina, combined with educational rehabilitation, for ASD, and to compare the effects of different TCM intervention methods. METHODS: A single-center, three-arm, pragmatic randomized controlled trial. A total of 120 children aged 2-12 with ASD will be randomized (1:1:1) to: (A) acupuncture + tuina + rehabilitation; (B) acupuncture + rehabilitation; or (C) rehabilitation alone. The intervention duration is 12 weeks with a 4-week follow-up. The primary outcome is the change in the Autism Treatment Evaluation Checklist (ATEC) total score from baseline to week 12. Secondary outcomes include core symptoms (CARS-2, ABC), comorbidities (sleep via CSHQ; constipation via BSFS/SBMs), and neurophysiological measures (EEG). The primary analysis will test the superiority of Groups A and B over Group C, and the non-inferiority of Group B to Group A using a repeated-measures mixed model. CONCLUSION: This trial is designed to generate high-quality evidence regarding the efficacy of TCM techniques as adjunctive therapy for ASD. The findings will inform clinical practice and guide the formulation of integrative intervention strategies for ASD. TRIAL REGISTRATION: This study was registered in the International Traditional Medicine Clinical Trial Registry (ITMCTR) with registration number ITMCTR2025002393.
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17. Yamasaki F, Nakata Y, Kanahara N, Miyazawa A, Mashimo Y, Hirose Y, Oda Y, Niitsu T, Onouchi Y, Iyo M. Arginine-vasopressin systems in autistic phenotype schizophrenia: effect of a genetic variant of AVPR1a and AVPR1b. J Neural Transm (Vienna);2026 (Apr 28)
Much attention has been devoted to exploring the similarities between schizophrenia and autism spectrum disorder (ASD). Autistic traits in schizophrenia have recently been assessed using the Positive and Negative Syndrome Scale for Schizophrenia Autism Severity Scale (PAUSS). Although studies on arginine-vasopressin (AVP) systems have focused on the etiology of ASD, there are no reports regarding AVP systems and autistic traits in schizophrenia. This study aimed to assess autistic traits in schizophrenia using the PAUSS and examine their associations with the PAUSS and AVP-related biological measures. This is a cross-sectional study. We recruited patients with schizophrenia (n = 80) and healthy controls (HCs; n = 27). Patients with schizophrenia were classified as having either an autistic phenotype schizophrenia (AU) or a non-autistic phenotype (NAU). All patients with schizophrenia underwent clinical assessments focusing on symptom severity, autistic traits, neurocognition, and social cognition. HCs were examined for neurocognition and social cognition. We also evaluated AVP-related biomarkers, including serum AVP levels, single-nucleotide polymorphisms, and promoter-region microsatellites. The AU group showed worse symptom severity and social cognition than the NAU group. The T allele of rs28632197 in the AVP receptor (AVPR)1b was associated with more severe autistic traits in patients with schizophrenia, while the short allele of RS1 in AVPR1a was associated with less severe autistic traits. Our results suggest that autistic traits in schizophrenia are linked to more severe symptoms and poorer social cognition and that AVP system dysfunction may contribute to their etiology. Clinicians should carefully evaluate autistic traits.