Pubmed (TSA) du 14/05/26
1. Ai W, Anchordoqui A, Bogdanova O, Pomies V, Coutelle R, Atzori P, Leboyer M, Lai MC, Amestoy A. Untangling Sex and Gender Differences in Impression Management and Associated Autism Features in French Autistic Adults. Autism Res;2026 (May 14):e70271.
Some autistic individuals camouflage their behavioral differences, a phenomenon that overlaps with general impression management (IM). Few studies have examined IM in autistic people, particularly outside English-speaking countries. This study delineated the shared facets of camouflaging and IM, and used this conceptual clarification to address two knowledge gaps: (1) the respective roles of assigned-sex, gender identity, and gender role expression in explaining IM facet differences, and (2) how these facets relate to autism features across life stages. French autistic adults (N = 291) completed self-report measures of camouflaging, concern for appropriateness, self-monitoring, and gender role expression. The Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule Second Edition (ADOS-2) measured childhood and adulthood autism features, respectively. Joint exploratory factor analysis extracted latent facets of camouflaging and IM measures. Hierarchical and elastic-net regressions examined how IM facets were associated with assigned-sex, gender identity, and gender role expression. Multiple regressions tested whether IM facets moderated the relationship between childhood and adulthood autism profiles. The results highlighted the multi-faceted nature of IM (as inclusive of camouflaging) and unveiled nuances beyond previously documented sex/gender differences in autistic camouflaging. We found two IM facets: « intentional use » (purposeful IM use) and « self-efficacy » (self-perceived IM capability). IM intentional use was greater in autistic women and gender-diverse adults than men. Greater IM self-efficacy was most strongly associated with higher communion traits (i.e., qualities of being caring and cooperative). In autistic assigned-males, greater IM self-efficacy was linked with lower adulthood autistic social communication features. The findings confer new insights into sex-related, gender-related, and potential developmental links between IM and autism profiles. Some autistic people camouflage to “blend in” socially, but we know little about how aspects of this phenomenon relate to broader ways people manage impressions in general (e.g., when one monitors and adapts behaviors to fit a situation, create a favorable social image, or avoid disapproval, such as by laughing at a joke one does not find funny to be seen as friendly and easy‐going). Camouflaging can be understood as a way by which autistic people manage impressions. We identified two aspects of French autistic adults’ impression management. “Intentional use” describes how much someone deliberately manages impressions; it was greater in autistic women and gender‐diverse adults compared to men. “Self‐efficacy” captures how capable someone feels at managing impressions; it was tied to communion (i.e., caring and cooperative) traits. Among autistic assigned‐males, greater self‐efficacy in managing impressions was linked to reduced autistic social communication features in adulthood; the same was not observed in autistic assigned‐females. There are multiple sources of sex‐related and gender‐related differences across aspects of impression management in autistic people, beyond the male–female binary. These nuances should be considered for improving autistic adults’ social wellbeing, clinical recognition, and access to care. eng
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2. Chen Y, Cao J, Li J, Wang G, Que Y, Chai W, Yuan Y, Dai Y, Peng Y, Long H, Luo Z, Xiao B, Wang H, Guo D, Long L. Clinical and genetic spectrum of CASK-related disorders in Chinese patients. J Neurol;2026 (May 14);273(6)
BACKGROUND: CASK-related disorders are rare X-linked neurological conditions. Heterozygous and hemizygous variants in the CASK gene located at Xp11.4 are strongly associated with developmental delay and intellectual disability. However, no long-term clinical information has been reported in the Chinese population. Here, we delineated the clinical and genetic characteristics of 21 Chinese patients with CASK variants. METHODS: We used whole-exome sequencing and copy number variant sequencing to identify CASK variants in 21 Chinese patients (18 females and 3 males). Information on the age, sex, genetic data, feeding situation, growth, developmental conditions, and auxiliary examinations of the cohort was collected. RESULTS: We identified a total of 20 CASK alterations, 12 of which were novel variants, including five copy number alterations. The clinical phenotypes of the cohort included severe developmental delay, severe intellectual disability, microcephaly, muscle tone abnormalities, feeding difficulties, relatively low weight gain, and seizures. Significant differences in the sex composition of patients with CASK-related neurodevelopmental disorders were noted; compared with male patients, more female patients had CASK-related neurodevelopmental disorders and had relatively mild clinical manifestations. Compared with that in previously reported cohorts in other countries, the age of seizure onset was earlier in the Chinese population with CASK variants, and these patients tended not to suffer from severe ophthalmologic problems. CONCLUSION: The present study revealed the clinical and genetic spectrum of 21 Chinese individuals carrying CASK variants. The core clinical phenotypes of the present cohort overlapped with those in previously reported cohorts, but there were several unique features, such as earlier seizure times. The present study emphasized the role of CASK as a disease-causing gene of unexplained intellectual disability.
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3. Fan L, Guo Y, Cheung M, Tian M, Hu X, Lv D, Ling Y, Wang Y, Liu H, Liu Q, Han G, Liu Y, Liang J, Bai Y, Huang X, Lin P, Chen J, Li X, Liu J. Efficacy of executive function training in preschool children with ASD: a randomized controlled trial. Child Adolesc Psychiatry Ment Health;2026 (May 14)
BACKGROUND: This two-arm, assessor-blinded, randomized controlled trial investigated the effect of a 16-week Executive Function Training Course (EFTC) based on the principles of ABA for preschool children with ASD. METHODS: Seventy-two children aged 3-6 years were randomly allocated to the intervention group (EFTC + treatment as usual, TAU) or control group (TAU). Executive function (EF) served as the primary outcome, evaluated using both performance-based tasks and parent-report rating scales. Secondary outcomes included core autism symptoms, emotional-behavioral comorbidities, developmental progress, and parental stress. RESULTS: Linear mixed model analysis revealed significant group × time interactions for total EF [F (1, 67.94) = 9.712, p = 0.003], inhibition [F (1, 66.97) = 5.916, p = 0.018], and working memory [F (1, 67.15) = 6.173, p = 0.015] measured by the task-based EF assessment. No significant differences were observed in parent-reported EF or other secondary outcomes. CONCLUSIONS: These findings provide empirical evidence for the effectiveness of EFTC on EF in preschool children with ASD. More studies are needed to explore the effects of EFTC in ecological contexts, as well as on broader symptomatology and development, and long-term effects on EF in preschool children with ASD. TRIAL REGISTRATION: The trial is registered in the Chinese Clinical Trial Registry, ChiCTR2400091585 (2024.10.30), https://www.chictr.org.cn/bin/project/edit?pid=249048.
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4. Fergus RA, Ahearn WH, Matthews A, Pandola O. Functional analysis and treatment of higher level restricted repetitive behavior displayed by individuals with autism. J Appl Behav Anal;2026 (Aug);59(3):e70066.
To date, only one behavior analytic study has systematically examined the use of functional analysis to assess arranging and ordering, which is a form of higher level restricted and repetitive behavior (Rodriguez et al., 2012). The researchers found that arranging and ordering was automatically maintained and developed efficacious interventions that involved some form of prompting and response disruption. The current study applied the Hagopian et al. (2020) treatment model (i.e., augmented competing stimulus assessments) for automatically maintained self-injury to higher level repetitive behavior. A variety of pretreatment assessments including preference assessments, functional analyses, process-versus-product analyses, and augmented competing stimulus assessments were conducted to inform treatment. Following treatment, generalization probes were conducted. For all four participants, efficacious treatments were identified that consisted of providing competing stimuli identified via the augmented competing stimulus assessment.
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5. Grünfelder L, Sandbote C, Schönhofer B, Sappok T. [From the intensive care unit to a new home: Case report on the complex treatment and reintegration of a patient with intellectual disability and autism spectrum disorder]. Fortschr Neurol Psychiatr;2026 (May);94(5):186-189.
This case study illustrates the vulnerability of individuals with intellectual developmental disorders and autism spectrum disorders to crisis situations and severe, life-threatening complications that can arise from the loss of primary caregivers and changes in their environment. With time and a tightly knit network of dedicated caregivers and a multidisciplinary professional team, the patient was accompanied through the serious illness, successfully treated, and ultimately discharged to a new home in order to participate in life once again.
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6. Hadad BS, Leon I, Hartston M, Freud E, Abu-Akel A. Mapping sensory sensitivity in autism. Mol Autism;2026 (May 14)
BACKGROUND: Sensory perception in autism is strikingly heterogeneous, with individuals showing both hypo- and hypersensitivity across different sensory domains. While sensory differences are widely recognized as a core feature of autism, the structure and underlying patterns of this variability remain poorly understood. Previous studies have yielded mixed findings, often examining sensory processing in isolation within single domains, thereby limiting a comprehensive understanding of sensory sensitivity in autism. METHODS: We compiled psychophysical data from 107 autistic and 408 age- and IQ-matched non-autistic individuals across 32 experimental conditions spanning multiple perceptual domains, including size, brightness, orientation, pitch, and face processing. Two complementary statistical approaches were used: segmented regression and a Bayesian hierarchical model. RESULTS: Despite substantial inter- and intra-individual variability, both models revealed a consistent domain-specific pattern: on average, autistic individuals showed reduced sensitivity to faces and speech, while performance on basic non-social tasks was comparable to or exceeded that of the comparison group. Bayesian modelling further indicated that social relevance, rather than domain alone, accounted for the primary source of divergence between groups. LIMITATIONS: This study focused on sensory sensitivity thresholds and did not assess perceptual biases or changes in subjective appearance of the stimuli. A full account of perception in autism requires considering these broader alterations. CONCLUSIONS: The current findings suggest that sensory differences in autism reflect a structured perceptual profile shaped by social relevance, stimulus complexity, and individual variability. The results highlight the importance of individualized sensory profiling and may inform both theoretical models and personalized approaches to intervention in autism.
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7. Iqbal R. My Autistic Sister Deserves a Pap Smear Too: Closing the Reproductive Care Gap for Neurodiverse Patients. J Am Board Fam Med;2026 (Jan);39(1)
Autistic women face significant disparities in reproductive healthcare including receiving lower rates of Pap smears and human papillomavirus (HPV) vaccinations. This editorial explores how widespread gaps in primary and gynecologic care exacerbate reproductive health inequities for this population. Drawing on peer-reviewed literature, national guidelines, and personal insight as a medical student and sibling to a profoundly autistic woman, this piece identifies widespread gaps in clinical training and practice. Key themes include low clinician training, limited use of communication accommodations, and the absence of neurodiversity-affirming care guidelines. Barriers to provider preparedness are discussed alongside coordinated solutions, such as collaboration between medical institutions, advocacy organizations, and accrediting bodies to implement longitudinal, evidence-based training across medical education. This editorial calls on professional organizations to adopt neurodiversity-affirming training into clinical guidelines, medical education, and residency curricula. Closing these gaps is essential to ensuring that all patients, regardless of neurodevelopmental profile, receive equitable reproductive healthcare.
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8. Lian A, He M, Zhang H, Yang Y. Microglia in autism spectrum disorder: heterogeneity, immunometabolism, and synapse-related pathways. Front Immunol;2026;17:1783755.
Microglia are increasingly implicated in autism spectrum disorder (ASD), but their role remains difficult to define because the available evidence is heterogeneous in cohort composition, developmental stage, sampled brain region, and experimental modality. This Review summarizes current evidence on three related aspects of ASD-relevant microglial biology: microglial heterogeneity, immunometabolic regulation, and synapse-related pathways. Human postmortem studies, bulk transcriptomics, single-cell and spatial atlases, methylomic deconvolution, and in vivo neuroimmune imaging collectively support the presence of immune- and glia-associated alterations in at least a subset of ASD brains, but these findings do not support a single ASD-wide microglial phenotype. Instead, current evidence is more consistent with region-, stage-, sex-, and context-dependent microglial variation that should be interpreted together with neuronal, astrocytic, vascular, and broader tissue-level changes. We further review how lipid handling, mitochondrial function, phagocytic-lysosomal load, and bioactive lipid signaling may influence microglial competence in ASD-relevant settings, while noting that much of the detailed mechanistic immunometabolism literature still derives from aging and neurodegeneration. At the microglia-synapse interface, complement deposition, phosphatidylserine exposure, anti-engulfment checkpoints, and astrocyte-microglia crosstalk provide more informative mechanistic entry points than broad activation terminology. Across studies, the major challenge is not whether microglia are involved in ASD, but how to distinguish primary pathogenic effects from secondary adaptation, and how to relate molecular signatures to excessive, insufficient, or mistargeted synaptic remodeling. Overall, the literature supports a more precise interpretation of ASD-related microglial biology based on developmental timing, cellular context, and mechanism-linked readouts rather than non-specific inflammatory labels alone.
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9. Popov TN, Minchev SD, Vachev IT. Identification of Serum Proteome in Children with Autism Spectrum Disorder. Balkan J Med Genet;2025 (Dec);28(2):85-92.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by impaired social interaction, communication deficits, and restricted, repetitive behaviors. Early and accurate diagnosis is essential for timely intervention and improved outcomes. While numerous efforts have been made to identify reliable biomarkers, no clinically validated protein biomarkers for ASD are currently available. The identification of such biomarkers could aid in diagnosis, subtyping, treatment monitoring, and the discovery of novel therapeutic targets. In this study, we analyzed the serum proteome profiles of children with ASD compared to typically developing children (TDC) using an iTRAQ-based quantitative proteomic approach. Pooled serum samples were assessed to identify potential ASD-associated protein biomarkers. A total of 59 differentially expressed proteins were identified between the ASD and TDC groups. These proteins are implicated in several biological pathways, including cholesterol metabolism, complement and coagulation cascades, tight junctions, regulation of the actin cytoskeleton, and extracellular matrix (ECM)-receptor interactions. Notably, levels of complement C4A, APOC2, and PFN1 were significantly elevated in the ASD group, while proteins involved in ECM-cell interactions – HSPG2, HPSE, and NID1 – were markedly decreased. These findings highlight a distinct proteomic signature in ASD and suggest that the identified proteins may serve as promising candidates for molecular biomarkers. Further validation in larger, independent cohorts is warranted to establish their diagnostic and clinical utility.
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10. Wei HY, Li DX. [Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic acidemia]. Zhongguo Dang Dai Er Ke Za Zhi;2026 (May 15);28(5):536-542.
Abnormalities in growth and development in children with methylmalonic acidemia (MMA) have become a central challenge affecting prognosis. As a relatively common disorder of organic acid metabolism, MMA has a complex etiology and exhibits highly heterogeneous clinical manifestations. Among these, neurodevelopmental delay and impaired somatic growth are particularly prominent and are key determinants of poor long-term outcomes. Accordingly, early identification, refined assessment, and individualized intervention for these growth and developmental problems are focal points of current MMA clinical management. This review focuses on the occurrence status, potential mechanisms, and intervention strategies for growth and developmental abnormalities in MMA, aiming to provide a reference for optimizing patient management and improving long-term outcomes.
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11. Williams JS. The OET Autism Framework: Rethinking Clinical Practice with Adolescent and Adult Autistic Females. Soc Work;2026 (May 14)
The OET Autism Framework represents a social justice response to the diagnostic disparities of misdiagnosis, underdiagnosis, and late diagnosis experienced by adolescent and adult autistic females. The theoretical intersection of optimal distinctiveness and empowerment theories and trauma-informed care incorporates lived experience narratives to produce an intersectional, antioppressive, and strengths-based approach to holistic therapeutic assessment to inform treatment choice. The author proposes core principles that are aligned with the theoretical underpinnings of the OET Autism Framework to guide practitioners in its clinical application to foster collaborative goal setting, treatment planning, and treatment choice with this population. Seminal and present-day autism scholarship is revisited to expose the impact of gender assumptions and biases that have perpetuated harm and informed treatment choice for adolescent and adult autistic females. Accentuating the ethical responsibilities of the social work profession, the author proposes future recommendations to invite critical analysis from autism scholars to explore the efficacy of the framework and clinical assessment tool identification.
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12. Witt L, Friedmann N, Haben S, Dost-Kovalsky K, Bast N, Oganowski T, Gold R, Thiel S, Hellwig K. Safety of breastfeeding under monoclonal antibodies in the offspring of mothers with multiple sclerosis or neuromyelitis optica spectrum disorder. J Neurol Neurosurg Psychiatry;2026 (May 14);97(6):522-531.
BACKGROUND: Women with multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD) and highly active disease may benefit from early post partum reinitiation of disease-modifying therapy (DMT), but safety data to monoclonal antibody (mAb) use while breastfeeding are limited. This study examined infant development and health following potential mAb exposure during breastfeeding. METHODS: A prospective monocentric cohort study of infants, born in 2013-2022, in the German MS and Pregnancy Registry, followed up 6-36 months post partum via telephone interviews. 183 infants breastfed during maternal mAb therapy (mAb use during breastfeeding (mAb-BF)) were matched 1:1 (DMT pregnancy exposure) to infants of DMT-naïve mothers (no-DMT-BF). Primary outcomes included developmental delay, systemic antibiotic use, hospitalisation, severe infection and growth. Adjusted regression models estimated the beta coefficient, OR or rate ratio with 95% CI. RESULTS: The study included 366 infants. Among 183 mAb-BF infants, most were breastfed on natalizumab (n=125), followed by ocrelizumab (n=34), rituximab (n=11) and ofatumumab (n=10); three had multiple exposures. Developmental delays occurred in 8.2% mAb-BF and in 7.1% no-DMT-BF infants (p=0.844). A comparable number of infants used a systemic antibiotic (n=33/183, 18.0% vs n=29/183, 15.8%; p=0.676), were hospitalised (n=18/183, 9.8% vs 19/183, 10.4%; p=1.000) or had a severe infection (n=14/183, 7.7% vs n=13/183, 7.1%; p=1.000). The physical growth and adjusted model outcomes were also similar. CONCLUSIONS: The results indicate that infants of mothers with neuroimmunological diseases, breastfed under mAbs, did not experience negative consequences for their development and health within the initial 6-36 months of life. This may encourage mothers with highly active disease to breastfeed.