Pubmed (TSA) du 22/04/26
1. Angus DC. Autism-Understanding Diagnosis, Prevalence, and Treatment: A Healthy Dialogue With Jeremy Veenstra-VanderWeele and Dost Öngür. Jama;2026 (Apr 22):e263415.
JAMA Senior Editor Derek C. Angus, MD, MPH, spoke with Dost Öngür, MD, PhD, JAMA Psychiatry Editor, and Jeremy Veenstra-VanderWeele, MD, a professor of developmental neuropsychiatry at Columbia University, about autism spectrum disorder for the Healthy Dialogue podcast. eng
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2. Bidwe R, Mishra S, Bajaj S, Kotecha K. Erratum: Removal notice to « Leveraging hybrid model of ConvNextBase and LightGBM for early ASD Detection via Eye-Gaze Analysis » [MethodsX 14 (2025) 103166]. MethodsX;2026 (Jun);16:103854.
[This corrects the article DOI: 10.1016/j.mex.2025.103166.].
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3. Caudill AN, Pfeaster C, Smith AL, Dixon-Ibarra AM, Lincoln AE. Cocreating an Inclusive Evaluation: Lessons Learned From Special Olympics Project ALL STAR Across Six US States. Am J Public Health;2026 (May);116(S2):S79-s83.
Special Olympics (SO) is committed to inclusive evaluation practices that center the needs and priorities of athletes with intellectual and developmental disabilities (IDD). Project ALL STAR, a longitudinal health evaluation, was cocreated with athletes with IDD across evaluation phases from project conception to dissemination. SO adopted inclusive evaluation practices, including training, developing plain-language tools and consent materials, producing athlete-led media, and delivering inclusive presentations. Lessons learned from this process inform practices to embed meaningful participation across Project ALL STAR evaluation activities. (Am J Public Health. 2026; 116(S2):S79-S83. https://doi.org/10.2105/AJPH.2026.308462).
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4. Christakis DA, Shriver T. Achieving Health Equity for People With Intellectual and Developmental Disabilities: Making an Elusive Goal a Reality. Am J Public Health;2026 (May);116(S2):S52-s53.
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5. Dehghanbanadaki H, Chen J, Thorogood SL, Ramsay JM, Hotaling JM. Epigenetic Signatures in Family Clusters: Links Between Male Fertility and Autism Risk. Urology;2026 (Apr 22)
Autism spectrum disorder prevalence has increased globally. Emerging evidence implicates paternal genetic and epigenetic factors, particularly sperm DNA methylation alterations, in shaping offspring neurodevelopmental risk. Advanced paternal age is associated with increased de novo mutations and epigenetic changes in germ cells. Recent studies have explored distinct sperm methylation signatures in fathers of autistic children, often involving genes critical for neural signaling, transcription, and synaptic function. Longitudinal analyses further linked paternal sperm methylation patterns-including WWOX, SALL3, and A2BP1 (RBFOX1)-with autistic traits in both fathers and their children, supporting intergenerational epigenetic transmission of ASD susceptibility.
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6. Ding HB, Li C, Wu SL. [Research progress on maternal factors influencing the risk of autism spectrum disorder in offspring from a gut-brain axis perspective]. Zhongguo Dang Dai Er Ke Za Zhi;2026 (Apr 15);28(4):514-521.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core features of social communication deficits and repetitive, stereotyped behaviors. Maternal environmental factors during pregnancy are considered important risk factors for ASD in offspring, with mechanisms involving dysbiosis of the maternal and offspring gut microbiota, immune dysregulation, metabolic abnormalities, and neuroinflammation. Specific probiotic interventions show potential during pregnancy and early life to prevent and ameliorate ASD by modulating gut microbiota composition, improving intestinal barrier function, and regulating inflammatory responses and neural signaling pathways. This review systematically summarizes, from a gut-brain axis perspective, the mechanisms by which maternal factors influence ASD risk in offspring and the potential intervention strategies, aiming to provide a theoretical basis and new research directions for the early prevention and intervention of ASD.
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7. Elbedour L, Weinberg M, Meiri G, Michaelovski A, Menashe I. Maternal Thyroid Hormone Imbalance and Risk of Autism Spectrum Disorder. J Clin Endocrinol Metab;2026 (Apr 22);111(5):e1412-e1420.
CONTEXT: Maternal thyroid hormones are essential for fetal neurodevelopment. Gestational thyroid imbalance has been associated with atypical neurodevelopment, including increased risk of autism spectrum disorder (ASD). OBJECTIVE: To examine the association between maternal thyroid dysfunction and ASD risk in offspring. DESIGN: Retrospective cohort study with follow-up through January 2021. SETTING: Single tertiary hospital in southern Israel (Soroka University Medical Center); linked to Clalit Health Services electronic records. PATIENTS OR OTHER PARTICIPANTS: A total of 51 296 singleton births between January 2011 and December 2017. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Offspring ASD diagnosis (Diagnostic and Statistical Manual of Mental Disorders, fifth edition). RESULTS: A total of 4409 (8.6%) of the mothers showed abnormal thyroid function. ASD cumulative incidence was similar in the offspring of women with normal and abnormal thyroid function (log-rank P = .27). While chronic hypothyroidism only (reflecting likely adequate treatment) was not significantly associated with ASD [adjusted hazard ratio (aHR), 0.47; 95% confidence interval (CI), 0.15-1.48], combined chronic and gestational hypothyroidism was associated with higher ASD risk (aHR, 2.61; 95% CI, 1.44-4.74). Trimester-specific analysis indicated a dose-response effect, in which the longer the period of hypothyroidism, the higher the ASD risk, namely, for 1, 2, or 3 trimesters of exposure: aHR, 1.69 (95% CI, 1.19-2.83); aHR, 2.39 (95% CI, 1.24-5.78); aHR, 3.25 (95% CI, 1.07-7.21), respectively. CONCLUSION: The findings suggest adequately treated chronic hypothyroidism is not associated with ASD in offspring, whereas persistent hormonal imbalance across trimesters conveys elevated risk. These findings underscore the importance of routine thyroid function screening and timely treatment throughout pregnancy.
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8. Jenkins A. Rosemary Collaboratory: A Policy, Systems, and Environmental Approach to Understanding and Addressing Health Inequities for People With Intellectual and Developmental Disabilities, United States. Am J Public Health;2026 (May);116(S2):S103-s111.
Individuals with intellectual and developmental disabilities (IDD) face significantly poorer health outcomes and experience greater health disparities compared with people without IDD, in part because of health system failures. This article summarizes health system assessments completed in the United States at the national level and in 3 states (Pennsylvania, Washington, and Wisconsin) to identify existing barriers and gaps. To reflect the US health architecture, there is also a discussion of particularly relevant national or federal policy features that influence health equity for people with IDD. Despite existing federal legislation, there are significant opportunities for improvement across all components of the health system, at both federal and state levels. One of the areas of most significant state-level innovation has to do with supported decision-making and alternatives to guardianship, demonstrating that there is precedent for state leadership. States should continue to treat federal legislation as the floor of protection, rather than the ceiling, and pursue further reforms that promote health equity for people with IDD. (Am J Public Health. 2026; 116(S2):S103-S111. https://doi.org/10.2105/AJPH.2026.308452).
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9. Koetsier J, Bahram Sangani N, Gomes AR, Diogo MM, Fernandes TG, Bouwman FG, Mariman ECM, Ghazvini M, Schurgers LJ, Gribnau J, Curfs LMG, Reutelingsperger CP, Eijssen LMT. Multi-omics characterization of developing forebrain organoids unravels the dynamic molecular events of Rett syndrome pathogenesis. J Neurodev Disord;2026 (Apr 21)
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10. Krahn GL. Tracing the Historical Roots of Health Inequity Among People With Intellectual and Developmental Disabilities in the United States: Impact of Models, Advocacy, Legislation, and International Context. Am J Public Health;2026 (May);116(S2):S84-s93.
The history of inequity for people with intellectual and developmental disabilities (IDD) in the United States is a compelling story of social perceptions of disabilities, advocacy, legislation, and international influences. Although my focus here is on health inequities, the contributing factors equally influenced where people with IDD lived, worked, and recreated. This article provides a public health perspective for viewing intertwining advances in models of disability, the power of family and self-advocacy, and US legislation to create infrastructures for community-based training, services, and support. It includes periods of inhumane treatment and gross neglect of people with disabilities. All are considered within an international context of increasing recognition of the human rights of people with disabilities. Key organizations pushing for improvements include Special Olympics and Arc of USA. Beginning with the 1800s when people with severe disabilities were often institutionalized, I document changes in prevailing models of disability, the movement to deinstitutionalize people with IDD to community settings, and the recent push to reconceptualize disability to promote true inclusion with full human rights. Current issues and future directions are outlined to advance health equity. (Am J Public Health. 2026; 116(S2):S84-S93. https://doi.org/10.2105/AJPH.2026.308466).
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11. Li L, Huus K, Falkmer M, Zhao Y, Christensen BM. Participation of children with autism spectrum disorder in everyday activities: self-reports and primary caregivers’ proxy-reports. J Pediatr Nurs;2026 (Apr 20);89:100-108.
PURPOSE: This study aimed to examine the level of agreement between children with autism spectrum disorder (ASD) and their primary caregivers regarding the perceived frequency of attendance, level of involvement, and perceived importance of everyday activities. METHODS: A cross-sectional design was employed, recruiting 63 ASD child-caregiver dyads and administering the simplified Chinese version of Picture My Participation (PMPC; Simplified). RESULTS: Among the 19 items included in the PMP-C (Simplified), child-caregiver agreement on attendance and involvement was slight to fair in most domains. The most prominent discrepancies were observed in school and community-based activities, whereas higher agreement was found in home-based contexts. Caregivers tended to underestimate the child’s attendance in personal care and health-related activities, with no universal systematic bias across all areas. Children and caregivers showed a moderate positive correlation in ranking important activities, yet differences remained in the distribution and focus of the rankings. CONCLUSION: Children with ASD and their caregivers demonstrate divergent perceptions of the child’s everyday participation. Caregiver proxy reports do not fully capture children’s subjective lived experiences, especially in social and community contexts, and systematically underestimate perceived independence in personal care and health-related activities. While there is moderate convergence in ranking important activities, distinct value priorities exist for specific daily occupations. IMPLICATIONS FOR PRACTICE: Direct child self-report, supported by visual aids, is feasible and essential for capturing the subjective experiences of children with ASD. A dual-informant approach that combines child self-report and caregiver proxy data can support more person-centered, meaningful participation for children with ASD.
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12. Liu W, Li D, Xu Y, Liu S, Jiang L. Transseptal Mitral Valve-in-Valve via a Residual Iatrogenic ASD: How We Did It. JACC Case Rep;2026 (Apr 18):108250.
BACKGROUND: Degenerated surgical mitral bioprostheses may require reintervention, and transcatheter mitral valve-in-valve (MViV) has emerged as a less invasive alternative. Residual iatrogenic atrial septal defects (ASDs) may complicate hemodynamics but can also be incorporated into procedural strategy. CASE PRESENTATION: A 58-year-old woman with a prior mitral bioprosthesis presented with advanced heart failure, prosthetic stenosis, pulmonary hypertension, and a residual iatrogenic ASD with left-to-right shunting. HOW WE DID IT: The ASD was used as the transseptal access route due to favorable anatomical alignment. Preprocedural CT showed a predicted neo-LVOT of 194.4 mm(2). A 27-mm balloon-expandable valve was implanted, followed by ASD closure using a 32-mm occluder. OUTCOME: The procedure improved valve hemodynamics and reduced central venous pressure from 26.5 to 9.4 mm Hg, with marked symptomatic improvement. TAKE-HOME MESSAGE: A residual iatrogenic ASD can be used for MViV access and closed in the same procedure in selected patients.
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13. Nisar F, Charolia M, Mansoor M, Shamim MS. Effectiveness of Aquatic Therapy in Autism Spectrum Disorders. J Pak Med Assoc;2026 (Mar);76(3):465-467.
Pituitary adenomas are common sellar tumours in which transsphenoidal surgery is often the main treatment. Surgical resection largely depends on extrasellar extension, especially cavernous sinus involvement, making radiological classifications important for operative planning and patient counselling. This review summarizes evidence on the Hardy-Wilson and Knosp classifications (including revised Knosp) for predicting extent of resection. Hardy-Wilson grading describes sellar changes and suprasellar extension but has limited value for assessing parasellar invasion on modern MRI. The Knosp classification, based on the tumour’s relationship to the internal carotid artery, more directly estimates cavernous sinus invasion and correlates with gross total resection rates. Studies consistently show reduced resection and remission with higher Knosp grades, while the revised Knosp subdivision (3A/3B) improves its predictive value. Overall, revised Knosp is more reliable for outcome prediction in contemporary endoscopic practice.
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14. Pérez Bello AT, Galperin G, Frack Auger ME, Graizman Kohan BF, Preto FM, Ortega CM. Xerophthalmia and bilateral optic neuropathy secondary to nutritional deficiency in a patient with autism spectrum disorder: Case report and literature review. Arch Soc Esp Oftalmol (Engl Ed);2026 (Apr 22):502534.
According to the World Health Organization (WHO), chronic vitamin A deficiency is the leading preventable cause of childhood blindness1. Patients with autism spectrum disorder (ASD) represent a high-risk group because they may present eating disorders that lead to severe nutritional deficiencies. We present the case of a pediatric patient diagnosed with ASD who developed xerophthalmia and bilateral optic neuropathy in the context of vitamin A deficiency, associated with vitamin B12 deficiency and anemia, who was managed and followed up through a multidisciplinary approach. The aim of this work is to present a case report accompanied by a literature review to contextualize it, compare it with previously described cases in the scientific literature, and highlight its relevance in diagnostic and therapeutic management.
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15. Ralston R, Smith A, Dixon-Ibarra A. Health Promotion Across the Life Span for Special Olympics Athletes. Am J Public Health;2026 (May);116(S2):S66-s69.
A life span approach to health promotion serves as a foundational strategy in Special Olympics programming for individuals with intellectual and developmental disabilities (IDD). This global approach integrates two key interventions-Young Athletes and fitness programming-to address barriers to health equity and promote healthy lifestyles for people with IDD. Evaluations demonstrate improvements in motor development and cardiovascular health. Success across programming highlights the use of scalable models to improve health outcomes for people with IDD. (Am J Public Health. 2026; 116(S2):S66-S69. https://doi.org/10.2105/AJPH.2026.308502).
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16. Spicer BG. Referral Coordination to Address Health Disparities in Special Olympics Athletes With Intellectual and Developmental Disabilities. Am J Public Health;2026 (May);116(S2):S70-s74.
Individuals with intellectual and developmental disabilities (IDD) face significant barriers to health care access. Special Olympics Healthy Athletes addresses this through health screenings and care coordination. From 2023 to 2025, 580 individuals received multidisciplinary referral support. Coordinators provided no-cost benefits navigation, transportation, and provider connections. Common barriers included difficulty locating in-network providers, financial constraints, and limited insurance coverage for specialty services. This highlights the impact of dedicated referral coordination in overcoming systemic barriers and improving care access for individuals with IDD. (Am J Public Health. 2026; 116(S2):S70-S74. https://doi.org/10.2105/AJPH.2026.308503).
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17. Vincent J, Kajjumba D, Amone R, Estlin EJ, Okello KK, Akello F, Okello J, Idro R, Abbo C, Ouma S. Community Perceptions of the Causes of Autism and Help-Seeking Responses: A Multi-Site Qualitative Study Across Northern Uganda. Autism;2026 (Apr 22):13623613261434571.
Understanding the causes of autism in sub-Saharan Africa remains limited, contributing to stigma and delayed identification. This multi-site qualitative study examined community explanatory models of autism and related help-seeking practices in Northern Uganda. Data were generated through 25 semi-structured interviews and 4 focus group discussions (N = 64) across 1 urban and 2 rural districts in the Acholi sub-region. Participants included autistic young people, caregivers, health and education professionals, community, cultural and religious leaders, and government representatives. Data were analysed inductively. Four interrelated themes were identified: unknown causes, supernatural explanations, biopsychosocial attributions, and help-seeking pathways. Autism was frequently misunderstood and conflated with ‘mental illness’ or general learning difficulties. Supernatural accounts, such as witchcraft, curses, and divine punishment, were prevalent and often gendered, with mothers disproportionately blamed. Biopsychosocial explanations included contraceptive use, obstetric complications, genetic factors, and post-conflict trauma. These causal beliefs shaped different help-seeking trajectories, typically prioritising religious and traditional interventions before biomedical care. Stigmatising interpretations were linked to social exclusion, neglect, physical abuse, and, in extreme cases, infanticide. Findings highlight the entanglement of cultural, spiritual, and biomedical models in a post-conflict, low-resource context. Interventions addressing misconceptions and maternal blame may reduce stigma, support earlier identification, and prevent avoidable harms.Lay AbstractThis study looked at how people in Northern Uganda think about autism and what they believe causes it. Researchers spoke with 25 people through one-on-one interviews and 4 group discussions (with 8-10 people per group for a total of 39 people) in 3 districts of the Acholi region of Uganda, covering both urban and rural areas. The data were transcribed and interpreted to understand what seemed most important across all the participants from the interviews and focus groups. Four main themes were identified: (1) Unknown causes, (2) Supernatural causes, (3) Biopsychosocial causes, and (4) Help-seeking responses. Overall, the study found that autism is often poorly understood. Many participants linked it to supernatural explanations, such as witchcraft or punishment from God. Mothers were often blamed and seen as responsible for their child’s condition. People also pointed to wider influences, including modern medical interventions and the long-term effects of war and displacement, as possible causes. These beliefs led to traditional, religious, and modern medical help-seeking responses. Where families followed traditional responses, this could have serious consequences, including harm or even death for the child. This study highlights the importance of working with communities in culturally respectful ways to better understand their perspectives. This can lead to earlier recognition, reduced stigmatisation, better education, and stronger support.
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18. Williams AD. Elevating Health Equity for Individuals With Intellectual and Developmental Disabilities: A Public Health Priority. Am J Public Health;2026 (May);116(S2):S55-s57.
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19. Williams AD. Improving Accessibility for People With Intellectual and Developmental Disabilities: Principles for Developing an Inclusive Document. Am J Public Health;2026 (May);116(S2):S64-s65.
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20. Williams AD. Advancing Health Equity Through Positive Media Representations: Transforming Perceptions of Individuals With Intellectual and Developmental Disabilities. Am J Public Health;2026 (May);116(S2):S58-s61.
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21. Williams AD. Special Olympics PATH to Health Equity for People With Intellectual and Developmental Disabilities. Am J Public Health;2026 (May);116(S2):S94-s102.
Despite numerous efforts by health systems, health care professionals, public health professionals, and various policy advocates, health disparities persist for people with intellectual and developmental disabilities (IDD). Achieving health equity for these individuals requires continued efforts to address health disparities and improve access to adapted health services. This includes building capacity in health care systems, governments, and the health care workforce to deliver high-quality, inclusive care. Special Olympics Health employs a comprehensive 4-pronged approach called the PATH to Health Equity, which focuses on prevention, assessment, training, and health systems to address the health disparities that individuals with IDD experience. Each key component of this approach is highlighted with examples of evidence-based programming and outcomes. Although achieving true health equity for this population requires further collaboration, partnership, and resources across health systems, academia, policy, advocacy, and public health sectors, Special Olympics Health is making significant strides in improving health outcomes and quality of life for individuals with IDD. (Am J Public Health. 2026; 116(S2):S94-S102. https://doi.org/10.2105/AJPH.2026.308436).
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22. Yang YL, Qu XL, Zhang S, Peng CJ, Luo N, Zeng H, Wei Z. [Risk factors associated with neurodevelopmental outcomes at 2-3 years of corrected age in extremely preterm infants]. Zhongguo Dang Dai Er Ke Za Zhi;2026 (Apr 15);28(4):458-463.
OBJECTIVES: To investigate neurodevelopmental outcomes and associated risk factors in extremely preterm infants (EPIs) at 2-3 years of corrected age. METHODS: A retrospective study included EPIs (EPI group, n=122) at 2-3 years of corrected age who were followed at the High-Risk Infant Clinic of Shenzhen Maternity and Child Healthcare Hospital and normal full-term infants aged 2-3 years (term group; n=154) during the same period from January 2018 to December 2024. Neurodevelopmental outcomes were compared between groups, and risk factors for neurodevelopmental impairment (NDI) in EPIs were analyzed. RESULTS: The EPI group had a lower general developmental quotient and lower developmental quotients in gross motor, hand-eye coordination, and visual performance than the term group (P<0.05). In the EPI group, the proportions of no NDI, mild NDI, and moderate-to-severe NDI were 50.8% (62/122), 36.1% (44/122), and 13.1% (16/122), respectively; the proportions with cerebral palsy and global developmental delay were 2.5% (3/122) and 7.4% (9/122), respectively. The proportions of moderate-to-severe NDI and global developmental delay were higher in the EPI group than in the term group (P<0.05). The incidence of moderate-to-severe NDI did not differ between EPIs born at 22-24(+6) weeks and those born at 25-27(+6) weeks (P>0.05). Periventricular leukomalacia was a risk factor for moderate-to-severe NDI (OR=13.511, 95%CI: 1.370-133.235) in EPIs, whereas a higher 1-minute Apgar score was protective (OR=0.589, 95%CI: 0.437-0.795). CONCLUSIONS: At 2-3 years of corrected age, EPIs have a lower general developmental quotient than term infants, with significant deficits in gross motor, hand-eye coordination, and visual performance. The proportion with NDI is relatively high; periventricular leukomalacia is an important risk factor, and a higher 1-minute Apgar score may confer neurodevelopmental benefits.
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23. Zhou L, Han J, Wu H, Bao H, Wang J, Qin P. Alterations in self-related brain networks in autism spectrum disorder: a systematic review of functional and structural magnetic resonance imaging studies. Psychoradiology;2026;6:kkag011.
Autism spectrum disorder (ASD) involves alterations in social communication and restricted, repetitive behaviors. Emerging evidence highlights atypical self-awareness as a key factor in ASD-related social impairments. However, the neural mechanisms underlying differences in self-processing remain fragmented. This systematic review synthesizes findings from 49 functional magnetic resonance imaging (fMRI) and structural magnetic resonance imaging (sMRI) studies (2000-2025) to explore self-related brain networks in ASD, based on the hierarchical self-model comprising interoceptive, exteroceptive, and mental levels. Across all three levels, consistent atypicalities were observed in ASD. The interoceptive level (insula, thalamus) showed altered functional connectivity (FC) and gray matter density, associated with atypical bodily and affective self-awareness. The exteroceptive level, which includes the medial prefrontal cortex (mPFC), temporoparietal junction (TPJ), and premotor cortex (PMC), exhibited reduced long-range FC and local coherence, potentially reflecting atypical self-other differentiation and communication. The mental level, involving the anterior and posterior cingulate cortices (ACC and PCC), revealed decreased FC and interhemispheric coherence, implicating atypical reflective self-processing. Disrupted cross-level interactions further suggest a breakdown in hierarchical self-integration. These findings emphasize the importance of self-related network alterations in ASD and support their inclusion in neurocognitive models of autism.