Pubmed (TSA) du 02/03/26
1. Antezana L, Conner CM, Feldman J, Manna LL, Ionadi A, Su DJ, Eldeeb S, Gastgeb H, Sivathasan S, Northrup JB, Beck KB, Scott LN, Mazefsky CA. Defining Nonsuicidal Self-Injury in Autistic People: A Framework for Assessment Using Key Elements to Aid in Characterization. Autism Adulthood. 2026.
Nonsuicidal self-injury (NSSI) is the intentional destruction of one’s own body tissue without suicidal intent and for purposes that are not socially or culturally accepted or practiced (e.g., intentional self-cutting, self-biting). Research on NSSI in autistic people is limited but increasing. NSSI is strongly associated with suicide, and it is an important behavior to better understand given the high rates of NSSI and suicide in autistic people. To date, research focused on autistic people has mostly used self-report questionnaires to assess NSSI, with a more limited application of clinical interviews of NSSI. However, researchers and clinicians may find it challenging to determine whether a behavior is categorized as NSSI in autistic people, especially since autistic people may present with other behaviors that cause self-injury. We set forth key elements in defining NSSI to support better reliability of NSSI assessment across studies. We emphasize that when assessing for NSSI the behavior must meet these key elements: (1) not intended to cause death, (2) the self-injury/harm is intentional, (3) there is immediate physical injury following the behavior, (4) the injury is to the external body, not internal body, (5) the injury is self-imposed and not done by another being, and (6) it is not a part of social or cultural practices. It will be important for future work to develop measures that can accurately assess NSSI in autistic people and advance mechanistic and intervention research related to NSSI.
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2. Barbuti M, Amadori S, De Rosa U, Perugi G. Clinical characterization of bipolar disorder in adults with autism without intellectual disability: a cross-sectional study. J Affect Disord. 2026; 405: 121527.
OBJECTIVE: The present study aims to provide a detailed clinical characterization of adult patients with bipolar disorder (BD) and comorbid autism spectrum disorder without intellectual disability (ASD-noID), through a comparison with a control group of individuals with BD only. METHODS: We conducted a cross-sectional observational study involving 62 adults with comorbid BD and ASD-noID, recruited at the University Hospital of Pisa between June 2022 and April 2023. Clinical history, psychiatric diagnoses, and symptom profiles were collected using standardized assessment procedures. Group comparisons with a sex-matched control sample of BD patients without ASD were performed. RESULTS: Patients with ASD-BD exhibited an earlier onset of mood symptoms, a higher prevalence of other specified bipolar and related disorder (BD-OS) diagnoses, and greater rates of comorbid anxiety disorders. Temperamental assessment revealed significantly higher scores in cyclothymic, anxious, and depressive dimensions. The ASD-BD group also reported lower global functioning. Finally, ASD-BD individuals show high frequency of adverse reactions to antidepressants and antipsychotics. CONCLUSIONS: BD in adults with ASD-noID presents a distinct clinical phenotype, characterized by atypical mood presentations, emotional dysregulation, complex comorbidity, and reduced treatment tolerability. These findings highlight the importance of improving diagnostic accuracy and adopting personalized treatment approaches for adults with this comorbidity.
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3. Batista DM, Oliveira ARP, Nogueira LRD, Silva L, Nascimento RND, Cardoso AM, Goulart EV, Ferreira MGS. Experiences of mothering children with autism spectrum disorder. Rev Gaucha Enferm. 2026; 47: e20250216.
OBJECTIVE: to investigate the challenges faced and the strategies adopted by mothers of children with autism spectrum disorder in the experience of mothering. METHOD: a descriptive study, with a qualitative approach, was supported by the Sensitive Creative Method, using the « Tree of Knowledge » dynamic. It was conducted in July 2024 in a room at the State University of Pará. Thirteen mothers of children with the disorder participated. The data were subjected to French Discourse Analysis. RESULTS: the process of caring for a neuroatypical child begins with maternal perception of the first signs of atypicality, triggering a lonely and painful search for explanations. The difficulties faced involve the lack of preparation of health professionals, the high cost and slowness of diagnosis, as well as feelings such as guilt, denial and despair. However, over time, mothers develop internal strategies (patience, love, faith, resilience and knowledge) and external strategies (support network, therapies, medications) that strengthen the exercise of motherhood. FINAL CONSIDERATIONS: the impacts of the disorder result in the redefinition of the mothering process. It is necessary to give visibility to the demands of these mothers, promote spaces for qualified listening and to train health professionals, essential to promote quality of life for mothers, children and the dynamics of maternal care.
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4. Gau M, Iemura R, Orimoto R, Adachi E, Saito Y, Yamano H, Nakatani H, Kirino S, Kuno H, Moriyama K, Yamaguchi Y, Oitani Y, Sugie M, Mizuno T, Ishii T, Yoshida M, Kashimada K, Takasawa K. Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature. Endocr J. 2026; 73(3): 483-93.
X-linked adrenal hypoplasia congenita (AHC) is a rare, life-threatening disorder caused by pathogenic variants in NR0B1 (DAX1), leading to adrenal insufficiency and hypogonadotropic hypogonadism. AHC is often associated with Xp21 contiguous gene deletion syndrome, which involves the deletion of multiple genes, including NR0B1, GK, DMD, and IL1RAPL1, resulting in a spectrum of phenotypic manifestations, such as glycerol kinase deficiency (GKD), Duchenne muscular dystrophy (DMD), and neurodevelopmental disorders. We report two cases of AHC with neurodevelopmental delays due to contiguous Xp21 deletions involving NR0B1 and IL1RAPL1, each diagnosed through distinct clinical pathways. Case 1 involved a neonate with adrenal insufficiency, persistent hyperCKemia, and excessive urinary glycerol excretion, leading to a diagnosis of Xp21 deletion syndrome with DMD and GKD. The patient’s sister, an asymptomatic carrier, exhibited elevated CK levels and mild developmental delays. Array comparative genomic hybridization identified a novel complex structural variation, including duplication-deletion-duplication rearrangement, which may have modified clinical manifestations. Case 2 involved a 10-year-old boy with AHC and developmental delay that was initially considered a consequence of adrenal crises. Genetic analysis confirmed an Xp21 deletion, including IL1RAPL1, implicating it in his intellectual disability. A literature review reveals that Xp21 deletions involving IL1RAPL1 are strongly associated with neurodevelopmental delays, suggesting a distinct phenotype within Xp21 deletion syndromes. Early genetic diagnosis via chromosomal microarray analysis facilitates precise delineation of deletion regions, aiding in clinical management, genetic counseling, and early intervention strategies. Further studies are needed to elucidate genotype-phenotype correlations in Xp21 deletion syndromes and optimize individualized medical care.
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5. Grosvenor LP, McGrath M, Douglas J, Ames JL, Amutah-Onukagha N, Avalos L, Baker BH, Brennan PA, Christalin N, Ferrara A, Kelly-Taylor K, Lyall K, Nguyen RHN, Schmidt RJ, Croen LA. Associations between Prenatal Perceived Stress and Child Autism-Related Traits in the ECHO Cohort. J Pediatr. 2026: 115054.
OBJECTIVES: To examine associations of prenatal perceived stress with child autism-related traits and to evaluate effect modification by both child sex and co-occurring prenatal depressive symptoms. STUDY DESIGN: The sample was drawn from Environmental Influences on Child Health Outcomes (ECHO) Cohort sites with data on prenatal perceived stress (Perceived Stress Scale [PSS]) and autism-related traits (Social Responsiveness Scale, 2nd Edition [SRS-2]). We used linear and logistic regression models to determine associations between PSS and either SRS-2 T-scores or odds of moderate-to-severe autism-related traits (SRS-2 T-score ≥65) and evaluated effect modification by sex and prenatal depressive symptoms (PDEP). RESULTS: Among 4,115 mother-child pairs, higher PSS was associated with increased severity of autism-related traits (β=0.15 [95% CI=0.13-0.18]) and odds of moderate-to-severe traits (OR=1.04 [1.04-1.05]). There was evidence for sex-by-exposure interaction for continuous (β(Males)=0.18 [0.14-0.22]; β(Females)=0.13 [0.10-0.16], P(interaction)=0.03) but not dichotomous trait severity (OR(Males)=1.05 [1.03-1.06]; OR(Females)=1.04 [1.03-1.05], P(interaction)=0.52). Associations did not differ by PDEP (Low: N=2,538, b=0.14 [0.11-0.18]; High: N=889, b=0.10 [0.04-0.15]; P(interaction)=0.66). CONCLUSIONS: We found small yet significant associations between prenatal stress and autism-related traits. Limited evidence for effect modification by sex or prenatal depressive symptoms suggests prenatal perceived stress influences autism-related traits after accounting for these factors.
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6. Hand BN, Gilmore D, Hyer JM, DeVassie H, Radford D, Juckett L, Hanks C, Havercamp SM, Coury D. Formative evaluation of PREPARE for Autistic Adults: An adult autism training for resident physicians designed with autistic adults and family members. Autism Adulthood. 2025.
Efforts are intensifying across the U.S. to better prepare physicians to deliver high-quality, patient-centered care for adults with disabilities like autism. To address this need, we partnered with autistic adults and their families to develop a training program for resident physicians called Promoting Residents’ Excellence in Patient-centered cARE (PREPARE) for Autistic Adults. Here, we describe an evaluation of the feasibility, acceptability, and appropriateness of PREPARE for Autistic Adults to inform content and format revisions before efficacy pilot testing. We recruited residents (n=14) at one large academic medical center in the Midwestern U.S. to participate in the eight-week virtual training, which included six pre-recorded lectures, six facilitator-led case studies, and two standardized patient encounters. Participants rated feasibility, acceptability and appropriateness of the training, and participated in qualitative interviews to identify improvement opportunities. We analyzed quantitative data with descriptive statistics and qualitative interviews with an inductive rapid qualitative analysis. Participants’ median completion rate was 76.9% of training components. Participants rated feasibility, acceptability, and appropriateness highly. We identified four main qualitative themes: 1) Flexibility facilitates feasibility, 2) High-value experiences increase acceptability, 3) Practicalities affecting participation, and 4) High clinical practice relevance enhances appropriateness. We revised the training based on feedback, including clarifying or adding content, modifying standardized patient encounter logistics, and adding optional components for residency programs to supplement core PREPARE content. These results provide information for continued refinement of the training. Our next steps include pilot testing the efficacy of the revised training at one large academic medical center.
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7. Karki U, Jha A, Parajuli S, Sharma A, Gurung B, Bhattarai D. Clinico Socio-Demographic Profile of Children with Autism Spectrum Disorder from a Mental Health Clinic in Nepal: An Observational Study. JNMA J Nepal Med Assoc. 2025; 63(284): 229-33.
INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with symptoms manifesting in early childhood. There is limited information regarding the clinical scenario of ASD within Nepal. The study aims to determine the clinical and socio-demographic profile in children with ASD. METHODS: This was an observational cross-section study which examined the records of children diagnosed with ASD at a Mental Health Clinic in Nepal. Approval for the study was granted by NHRC. The analysis focused on data extracted from clinic records of ASD patients spanning from 16 September 2022 to 15 March 2024 encompassing one and a half years. Data were entered and analyzed using SPSS Statistics for Windows, version 16.0 (SPSS Inc., Chicago, Ill., USA). RESULTS: A total of 138 children were diagnosed with ASD, with a mean age of diagnosis at 42.94 ±17.49 months. Among the participants, there were 110 (79.69%) male, 105 (76.01%) first born with a male to female ratio of 3.9:1 and 114 (82.59% ) were going to regular school. Parents’ 39 (28.29%) and relatives’ 25 (18.01%) concerns were the primary reasons for seeking a diagnosis followed by referrals from pediatricians 19 (13.79%). The mean Childhood Autism Rating Scale (CARS) score of 34.33±3.99 was indicative of mild to moderate symptoms of ASD. The mean Vineland Social Maturity Scale (VSMS) score of 69.02±13.25 was indicative of mild impairment in socio-adaptive functioning. CONCLUSIONS: The study shows higher rate of ASD among males and first-born children. Early age at diagnosis is encouraging and is associated with better outcomes.
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8. Khaikin S, Pfeiffer B, Davidson AP, Shipper AG, Roth S, Nicholson J, McCormick B, Fiks AG, Mandell DS, Zisman-Ilani Y. Shared Decision Making Interventions for Parents of Children on the Autism Spectrum: A Systematic and Scoping Review. Community Ment Health J. 2026.
Parents of children on the autism spectrum face challenging treatment-related decisions, often with limited knowledge about available options. Shared Decision Making (SDM), a process where clinicians, patients, and families collaborate to make decisions based on evidence and preferences, can assist parents in navigating these choices. However, little is known about the use of SDM interventions for autism-related parental decisions. A systematic and scoping review was conducted across four databases (PubMed, Embase, Web of Science, and PsycInfo), and grey literature in two clinical trial registries. Study selection was conducted in two phases: title and abstract screening and full-text screening. From 7,610 records identified, two studies were included from Australia and Italy, describing multicomponent SDM interventions for parents of young children (< 18 years) on the autism spectrum. Both interventions demonstrated improvements in SDM-related outcomes, including parents' knowledge of autism treatments (such as speech pathology services and Early Intensive Behavior Intervention) and parents' involvement in treatment discussions. This review reveals a critical gap in SDM intervention research for autism parental decision-making. Despite the critical role parents play in autism treatment decisions, evidence-based SDM interventions remain scarce. This finding is significant given the well-established benefits of SDM in other healthcare populations and underscores the urgent need to develop and rigorously evaluate SDM interventions tailored to autism care contexts that support parents in making informed decisions about their children's care.Systematic review registration: A protocol was registered on PROSPERO.
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9. Khatiwada M, Howard D, Krempley T, Walton K, Williams C, Graber AD. Reasonable to Whom? Rethinking Informed Consent Disclosures in Light of the Research Related Concerns of the Autistic Community. Am J Bioeth. 2026: 1-14.
Information disclosure during the informed consent process presents a dilemma. If too little information is presented, participants are unable to make an informed decision. Exhaustive disclosure is, however, a practical impossibility. In the United States, this dilemma was historically navigated in the research context by requiring that disclosure include enumerated items: the purpose of the research, potential risks, etc. In 2018, federal guidelines were updated to require that disclosure adhere to the reasonable person standard, whereby participants must be given all information that an « average » person would want to know. Drawing on the Autistic community’s unique concerns regarding research, we argue that, because of its emphasis on the informational wants of the « average » person, the reasonable person standard systematically fails to meet the informational needs of (many) people from minoritized populations. We argue for an individualized understanding of the reasonable person standard and provide recommendations for research teams.
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10. Kim W, Seong M, Kim S. Design and Iterative Development of Serious Exergames for Children With Autism Spectrum Disorder: Formative Multiple-Case Pilot Study. JMIR Serious Games. 2026; 14: e77727.
BACKGROUND: Children with autism spectrum disorder (ASD) exhibit cognitive, motor, and social difficulties that affect engagement, causing developmental delays, behavioral challenges, and obesity-interrelated concerns in daily functioning and well-being. Although interactive interventions have incorporated physical activity, they often rely on limited physical involvement and lack iterative, expert-informed design, as built on pre-existing game frameworks. Physical activity is often operationalized as constrained input (eg, gestures or in-place actions) rather than exertion-intensive, whole-body exercise, and design guidance for adapting exercise content under ASD-oriented safety and cognitive-sensory constraints remains limited. These limitations highlight the need for exergames that promote sustained, full-body participation aligned with developmental goals, motivating formative, co-design with expertise and initial field testing in this population. OBJECTIVE: We aim to iteratively design exercise-based serious games (SGs) for children with ASD through a structured, expert-informed co-design process involving 21 professionals across special education, adapted physical education, and human-computer interaction, and to examine feasibility and use contexts through an exploratory multiple-case pilot study. METHODS: We derived serious exergames using 4 design methods-stakeholder interview, concept mapping, creative matrix, and visualize the vote. Two exergames-« Fruit Sorting Run » and « Hazard Avoiding Ride »-were developed, integrating full-body running and cycling movements into goal-directed tasks under ASD-oriented constraints. We conducted a multiple-case pilot with 3 children with ASD. During gameplay, caregivers labeled engagement using a binary input interface, and we conducted postsession caregiver interviews to capture complementary observations. RESULTS: Engagement in both exergames tended to increase over normalized time. Generalized estimating equations with a logit link and an autoregressive working correlation of order 1 (AR1), including participant indicators, showed a statistically significant association between normalized time and engagement in Fruit Sorting Run (per 0.1 increase: β=0.48; odds ratio 1.62, 95% CI 1.09-2.38; P=.02) and Hazard Avoiding Ride (per 0.1 increase: β=0.66; odds ratio 1.93, 95% CI 1.04-3.60, P=.04). Caregiver interviews reinforced these findings, reporting increased attention, motivation, and enjoyment across both activities. CONCLUSIONS: The findings support the applicability of an expert-informed design approach and the viability of the resulting exergames, integrating goal-directed physical activity, virtual agent-based prompting, and stakeholder-informed considerations such as motor-cognitive alignment, interactive scaffolding, and support for daily living skills. Distinct from prior SG approaches that operationalize physical activity through discrete gestures or in-place interactions, the proposed exergames embed sustained, exertion-intensive, whole-body movement within structured gameplay. Within this exploratory multiple-case pilot, engagement trajectories tended to increase over time. These preliminary observations provide an initial basis for a testable hypothesis that exertion-intensive, full-body SGs with virtual agent-based prompting may be associated with increasing engagement over time, meriting further examination in larger samples and applied educational and therapeutic contexts.
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11. Lautarescu A, Trost B, Kushki A, Oakley B, Heraty S, Belton D, Boyle A, Douglas S, Molloy CJ, Holt R, Bloomfield M, Campana F, Cupak M, Stevenson E, Tillmann J, Chatham C, Anagnostou E, Hartley D, Charman T. Autism data sharing: Benefits, challenges, and recommendations. PLOS Digit Health. 2026; 5(3): e0001249.
Data sharing is a key element of scientific research, but it is associated with many complex legal, ethical, and practical challenges. These are particularly salient in autism research, where concerns have been raised about researchers’ intentions, research priorities not aligning with those of autistic people, and differing opinions within stakeholder communities as to what priorities should be addressed. This review paper was co-produced through an iterative collaborative process to incorporate diverse viewpoints of stakeholder representatives from academia, charity, industry, the medical community, and the autism community. We discuss the main benefits and challenges of autism data sharing and argue that the perspectives of autistic people must be central to discussions around its ethical and technological aspects. We outline recommendations for ethical and responsible data sharing practices and note key developments within the field, including federated data sharing and community platforms and registries.
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12. Li P, Leng T, Hao R, Yuan Z, Li Y, Sun L, Zhang B. Associations Between Dietary Patterns, Inflammatory Biomarkers, and Behavioral Symptoms in Children With Autism Spectrum Disorder: A Cross-Sectional Case-Control Exploratory Study. J Autism Dev Disord. 2026.
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13. Qaraqe M, Varghese EB, Qadir I, Al-Thani D, Baroudi CT. Joint attention in autism: A narrative review of assessment techniques from behavioral observation to artificial intelligence. Behav Res Methods. 2026; 58(3).
Joint attention (JA), the shared focus between two individuals on an object or event, plays a pivotal role in social communication, cognitive development, and language acquisition during early childhood. However, JA is frequently impaired in children with autism spectrum disorder (ASD), highlighting the need for precise assessment to support early diagnosis and intervention. This narrative review explores the evolution of JA assessment methods, tracing the shift from human-mediated techniques to technology-driven approaches, including artificial intelligence (AI). The study analyzes research indexed in major bibliographic databases between 2002 and 2024, categorizing findings into human-mediated and technology-assisted methods. Key aspects such as target populations, data collection processes, and validation strategies are examined. By highlighting the strengths and limitations of existing approaches, the review identifies future research directions that can advance JA assessment and inform early intervention strategies, ultimately benefiting children with ASD and their families.
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14. Yang W, Zhang Y, Yang P, Zhao C, Du C, He J, Cao Y, Shang J, Li L, Liu Y, Wu S, Li X, Chen X, Lan H, Li H, Kong X, Li H, Mi D, Zhao J, Nie Y, Gao J, Ma T, Zuoqiu S. Early screening of childhood ASD at primary care hospitals in western China: a multi-center study in Chengdu, Sichuan Province. Front Public Health. 2026; 14: 1758181.
OBJECTIVE: Autism spectrum disorder (ASD) prevalence is increasing rapidly, the screening efficacy of ASD at primary care hospital directly affects diagnostic efficacy. Currently, early ASD screening capacity in western China are limited. In this study we assessed the efficacies of four different ASD screening methods at primary care hospital in Chengdu. METHODS: We recruited children 18-48 months through 20 primary care hospitals in Chengdu. Warning sign checklist [including autism warning sign (AWS) and social behavior observation (SB)], the Chinese-validated version of the Checklist for Autism in Toddlers (CHAT23), and autism behavior checklist (ABC) were utilized to identify potential ASD cases. Confirmation diagnosis was conducted at tertiary hospitals. Multivariate linear regression were conducted to compare efficacies of screening methods and to identify factors for positive ASD diagnosis. RESULTS: In this real-world study, a total of 14,298 children attended the early ASD screening from 20 primary care hospitals in Chengdu. 13,458 (94.1%) children provided sufficient information and 3,502 (26.0%) children were concurrently screened with four ASD screening tools. The screen-positive rates varied across tools, in descending order, was AWS (3.1%), SB (2.7%), CHAT-23 (2.18%), and the ABC (1%). The overall referral rate reached 66.88%. Among the screened population who completed diagnostic follow-up, the detected prevalence of ASD was 0.79%. Regarding screening accuracy, the positive predictive values (PPV) were ABC (94.57%), SB (91.95%), and AWS (87.06%), CHAT-23 (84.72%) from highest to lowest. The multivariable logistic regression analysis showed factors associated with a final ASD diagnosis, adjusted for age, gender, and primary hospital. The ABC demonstrated the strongest independent association with ASD diagnosis (β = 8.40, SE = 1.92, p < 0.01). Age was also a strong significant predictor (β = 6.12, SE = 2.00, p < 0.01). Both the AWS (β = 3.43, SE = 1.85, p < 0.05) and CHAT-23 screening result (β = 2.63, SE = 1.58, p < 0.05) were independently and positively associated with the diagnosis. SB (β = 2.39, SE = 1.79) and gender (β = 1.35, SE = 1.64) were not statistically significant in the adjusted model. CONCLUSION: In summary, the ABC score and child's age emerged as the most robust indicators of ASD in primary care hospitals. The effects of AWS and CHAT-23 support their utility as components in a multi-tool screening cascade. These findings support the practical value of integrated, tiered screening strategies in real-world public health settings.