1. Meeting the psychiatric needs of people with intellectual and developmental disabilities: A statement of the International Society of Psychiatric-Mental Health Nurses (ISPN). Arch Psychiatr Nurs. 2026; 63: 152159.

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2. Akemoğlu Y, Roberts EB, Xiong J. A Systematic Review and Quality Appraisal of AI-Augmented Intervention Studies for Autistic Individuals. Autism. 2026: 13623613261470855.

Artificial intelligence (AI) has been increasingly integrated into autism interventions to support personalization and scalability; however, the strength of empirical evidence supporting these approaches remains unclear. In this systematic review, we synthesized and critically appraised experimental studies evaluating AI-based interventions for autistic individuals with a specific focus on intervention outcomes and methodological rigor. Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines and a preregistered PROSPERO protocol, we searched databases and identified 13 eligible studies, including randomized controlled trials, quasi-experimental group designs, and single-case experimental designs. Reviewed studies targeted social engagement, communication, emotion recognition, empathy, adaptive participation, and symbolic play and predominantly employed human-in-the-loop models involving parents, educators, or clinicians. Methodological quality was evaluated using design-appropriate quality indicators and What Works Clearinghouse (WWC) standards. Although most studies reported positive short-term effects on participant-level outcomes, rigor varied considerably. Only two studies met WWC standards, five met standards with reservations, and six did not meet standards due to limitations related to experimental control, fidelity reporting, outcome measurement, or data adequacy. Overall, AI-based interventions show promise as tools to augment human-delivered autism interventions, but the current evidence base is preliminary. More rigorous research is needed to establish effectiveness and inform implementation in autism services.Lay AbstractArtificial intelligence, often called AI, is increasingly being used to support services for autistic children. AI tools can help adults such as parents, teachers, and therapists personalize instruction, track progress, and provide feedback during everyday activities. However, it is not yet clear how strong the research evidence is for AI-based interventions. In this review, we examined studies that tested AI-supported interventions designed to improve learning and behavior outcomes for autistic individuals. We carefully reviewed 13 studies and evaluated how well these studies were designed and conducted. The studies focused on areas such as social engagement, communication, emotion understanding, empathy, and participation in daily routines. Most interventions used AI to support, rather than replace, adult guidance. Although many studies reported positive short-term improvements, we found that many had important limitations in their research design. Only a small number of studies met strong standards for research quality. This means that more careful and well-designed studies are needed before AI-based interventions can be widely recommended. Overall, AI shows promise as a tool to support autism intervention, but stronger evidence is needed to understand when, how, and for whom these tools are most helpful.

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3. Ambrose K, Simpson K, Pellicano E, Heyworth M, den Houting J, Roth J, Adams D. « Support Me to Take the Steps I Need, to Live the Life I Want, in Ways That Work for Me »: Perspectives of Autistic Adolescents on What is Important for Their Quality of Life. J Autism Dev Disord. 2026.

PURPOSE: Quality of life (QoL) is a subjective construct, influenced by an individual’s values, priorities and goals, yet little research considers the views of Autistic people regarding what is important for living a ‘good life’. This study addresses the question: « What do Autistic adolescents describe is important for them to live a ‘good life’? ». METHODS: 42 Autistic adolescents aged 10-17 years (52.4% girls, 45.2% boys, 2.4% non-binary gender) shared their views about what is important for their QoL through written or spoken responses in either a survey or interview. Autistic adolescents were recruited via social media advertisements directed towards parents. RESULTS: We identified five themes reflecting the priorities of Autistic adolescents: being understood and accepted, connecting deeply with others, engaging in strengths and passions to experience achievement and develop self-worth, having agency to manage their own needs, and being consulted and listened to. These themes highlight specific aspects within the broad concept of QoL that are most important for Autistic adolescents. CONCLUSION: This study adds to the conceptualisation of QoL for Autistic children and adolescents by eliciting directly the views of Autistic adolescents. The findings can inform the development of individual supports and increase understanding of Autistic perspectives in research and the community, which better enable Autistic adolescents to live a ‘good life’. Further research should extend this work to include younger Autistic children and those with higher support needs.

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4. Anderle F, Maheshwari D, McKinney A, Croke C, Luthra N, Nosyk M, Scerif G, Hendry A. Convergence between task performance scores, researcher observations, and parent ratings of executive functions and emotion regulation in neurodiverse toddlers at 20 months. Psychol Assess. 2026; 38(8): 520-31.

Executive functions (EFs) are higher order cognitive skills that enable individuals to regulate impulses, retain information, filter out distractions, and shift attention in response to changing demands. Various measures have been developed to assess these functions in toddlers across different contexts. However, convergence between these measures has not yet been established. Nor has it been verified whether these measures work in similar ways among children more-likely to experience EF difficulties, such as children at elevated likelihood for autism or ADHD, or already showing autistic traits. Here, we measure associations between performance-based scores (from a battery of five EF tasks), parent ratings of EFs using the Early Executive Functions Questionnaire Cognitive EF (EEFQ-CEF) and emotion regulation (EEFQ-Regulation) scores, and observer-report of self-regulation scores (Adapted Toddler Self-Regulation Assessment) in a neurodiverse sample of 110 toddlers aged 20 months. In addition, we investigate whether these associations are moderated by the likelihood of autism/ADHD or elevated autistic traits. Correlational analyses reveal positive moderate associations between all scores, except for performance-based EF and EEFQ-Regulation (r = .01). Moderation analyses indicate the association between EEFQ-CEF and EEFQ-Regulation is stronger for children with low levels of autistic traits than those with high levels. No other associations were significantly moderated by autistic traits. These results demonstrate that toddler EF can be captured with moderate consistency across different evaluative contexts (parent-rating, child performance, and researcher observations) and populations (neurodivergent or neurotypical), and that (parent-reported) day-to-day emotion regulation does not link with performance on structured tasks, but is associated with day-to-day cognitive EF, particularly among neurotypical toddlers. (PsycInfo Database Record (c) 2026 APA, all rights reserved).

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5. Colombi C, Barbaro J, Dwyer P, Kim SH. Editorial: Very early identification and intervention for infants with prodromes of autism. Front Psychiatry. 2026; 17: 1910179.

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6. Hamad O, Klára S, Elmadani M, Mbaabu G, Tóth L, Horváth É, Mesmar A, Máté O. Enhancing emergency department care for individuals with autism spectrum disorder across the lifespan: a systematic review. Front Health Serv. 2026; 6: 1835710.

OBJECTIVE: This systematic review aims to synthesize existing evidence on emergency department (ED) experiences, service-delivery challenges, and environmental and communication factors affecting autistic people and to identify strategies and interventions reported to improve patient comfort, safety, and satisfaction. METHODS: A comprehensive search was conducted across databases, including PubMed, Scopus, Web of Science, and the Cochrane Library, for peer-reviewed articles published between January 1, 2014, and December 31, 2024. Data extraction was performed using standardized forms, and quality assessment was conducted using the Mixed Methods Appraisal Tool (MMAT). Data synthesis involved narrative thematic analysis to identify key barriers and facilitators to emergency department care for autistic people. The reporting of this review follows the PRISMA guidelines. RESULTS: Eleven studies met the inclusion criteria and revealed consistent barriers affecting autistic people in emergency departments. Across settings, communication difficulties, sensory overload, long waiting times, and limited staff preparedness were the most frequently reported challenges. These factors contributed to heightened distress, behavioral escalation, and reduced satisfaction for patients and families. Facilitators identified in the literature included ASD-specific staff training, sensory-adapted environments, structured care routines, and active caregiver involvement. While not all barriers are easily modifiable, several environmental, communication, and workflow-related factors appear potentially amenable to service-level interventions. The findings further indicate that autism-specific staff training, sensory-friendly adaptations, and caregiver-supported care approaches may improve the ED experience for autistic patients and their families. DISCUSSION: The findings underscore the multifaceted challenges ASD patients face in EDs, exacerbated by sensory overload and communication difficulties. Addressing these issues requires a comprehensive approach, including staff education, environmental adjustments, and efficient triage systems. Engaging parents as partners in care also emerged as critical for delivering patient-centered care. CONCLUSION: This review emphasizes the urgent need for systemic reforms in ED care for ASD patients. Strategies such as sensory-friendly environments, enhanced staff training, and patient-centered policies can improve patient outcomes and satisfaction. Future research should focus on evaluating the long-term impacts of these interventions and identifying innovative solutions to meet the complex needs of this vulnerable population. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/view/CRD42024532107, PROSPERO CRD42024532107.

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7. Hernández-Ayala LF, Guzmán-López GE, Galano A. Mapping Trofinetide Polypharmacology in Rett Syndrome: A Multi-Stage Computational Analysis. J Comput Chem. 2026; 47(21): e70468.

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the MECP2 gene. Although trofinetide is the first FDA-approved drug for RTT, its pharmacological mechanism remains unclear. We present a structure-based in silico workflow that integrates target prediction, molecular docking, and 100 ns molecular dynamics (MD) simulations to prioritize potential RTT-relevant targets. Candidate receptors were ranked using a comparative pleiotropic score (P(S)), as well as an interaction similarity index (S(SI)) relative to endogenous substrates and reference modulators. Five targets emerged as high-priority candidates (GAT1, GABA(A), CHRM1, AMPA, and GSK3β) and were further examined using MD. The simulations supported several binding hypotheses: (i) stable occupation of the orthosteric site in GAT1 and CHRM1, with persistent contacts with ligand-recognition-associated residues (Tyr60 in GAT1 and Asp105 in CHRM1); (ii) sustained binding within the catalytic cleft of GSK3β with recurrent interactions near key catalytic elements (including Lys85); and (iii) dynamic, surface-associated binding modes in GABA(A) and AMPA, with peripheral residues. In different targets, the proline fragment frequently contributes to hydrophobic anchoring. Taken together, these results provide testable structural hypotheses for the multi-target interaction of trofinetide in RTT and a computational framework to guide experimental validation and next-generation multi-target design.

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8. Liao Y, Zhang S, Zhang X, Tan S, Luo Y, Wan Y, Lyu Y, Xie B, Zhan R, Zhang Y, Chen G, Jia X, Hu Z, Zheng Y, Mao X, Wang H, Tan J, Li F, Peng Y, Xia K, Guo H. X-linked SYTL4 missense variant disrupts RAB27A-dependent vesicle trafficking and synaptic transmission in autism. Proc Natl Acad Sci U S A. 2026; 123(31): e2605483123.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social communication and repetitive behaviors, with genetic studies implicating widespread synaptic dysfunction. However, the contribution of presynaptic vesicle trafficking mechanisms to ASD pathogenesis remains incompletely understood. Here, we identify synaptotagmin-like protein 4 (SYTL4), a RAB27A effector previously characterized in secretory cells, as a regulator of presynaptic function in the mammalian brain. We report a recurrent hemizygous missense variant, R126H, located within the Rab-binding domain of SYTL4 in four unrelated male individuals, consistent with an X-linked recessive mode of ASD, and additionally identify a de novo missense variant in RAB27A (T41A) in an independent ASD family that affects a domain mediating interactions with downstream effectors. Using a R126H knock-in mouse model, we show that R126H knock-in male mice exhibit ASD-relevant behavioral abnormalities accompanied by synaptic deficits in the medial prefrontal cortex. At the molecular level, ASD-associated SYTL4 and RAB27A variants interfere with the interaction between SYTL4 and RAB27A, providing a mechanistic link between human genetic variation and synaptic dysfunction. Together, these findings implicate disrupted SYTL4-RAB27A-dependent vesicle trafficking in ASD pathogenesis and identify SYTL4 and RAB27A as previously unrecognized contributors to autism-associated synaptic deficits and behavior.

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9. Ng BJ, Tan MY, Ng JQX, Aishworiya R, Shorey S. Unmasking Fatherhood: An Interpretative Phenomenological Analysis Exploring Mental Health Experiences Among Fathers of Autistic Children. J Adv Nurs. 2026.

AIM: To explore how fathers in Singapore experience, interpret, and cope with the emotional and mental health demands of raising an autistic child, and how stigma and support contexts influence coping and help-seeking. DESIGN: Qualitative. METHODS: Interpretative phenomenological analysis guided this qualitative study. Purposive sampling recruited 17 fathers (aged 31-55 years) of autistic children under 18 years living in Singapore, with confirmed DSM-5 diagnoses by trained developmental behavioural paediatricians. The sample was multi-ethnic (Chinese n = 9; Malay n = 5; Indian n = 1; Other n = 2), broadly reflecting the national distribution. Most fathers held university-level education and were in full-time employment. Fathers completed one-to-one in-depth semi-structured interviews from September to October 2025. RESULTS: Three themes were identified: (1) Fatherhood disrupted: Grief and the spectre of an unscripted future; (2) Holding it together: functioning as a moral metric and the quiet toll of self-reliance; (3) Guarded disclosure: navigating stigma, masculinity and the search for safe spaces. CONCLUSIONS: These findings highlight that fathers’ mental health experiences and help-seeking are shaped by identity-level processes that current services have not adequately addressed. Cultural stigma surrounding autism and masculine role expectations influence how fathers interpret and respond to psychological distress by encouraging functional self-monitoring and discouraging emotional disclosure, thereby delaying help-seeking and under-recognition of clinically relevant distress in fathers. The study reveals a significant need to understand paternal experiences in greater depth before designing interventions, and points to the importance of father-inclusive support structures that recognise the intersection of disability-related stigma with culturally specific masculine identity standards. Further research is needed to examine the longer-term trajectories of paternal coping and the potential consequences of sustained reliance on functional self-monitoring as the primary indicator of wellbeing. IMPLICATIONS FOR THE PROFESSION AND PATIENT CARE: Nurses and allied health professionals should recognise fathers of autistic children as distinct, underserved recipients of mental health support whose experiences are shaped by identity-level processes rather than symptom recognition alone. Practice should explicitly invite fathers into psychoeducation, coaching and care-planning conversations rather than defaulting to mothers as the sole service interface. Engagement strategies should use functional, role-sustaining language that aligns with how fathers conceptualise their own wellbeing, while remaining alert to the risk that such framing may inadvertently reinforce avoidance of emotional processing. Service pathways should integrate autism-specific peer-based entry points with clearly signposted escalation routes to professional mental health care. Culturally attuned practice should acknowledge the compounded effects of courtesy stigma, affiliate stigma and Confucian-influenced masculine norms, so that help-seeking can be framed as an expression of paternal duty rather than an admission of failure. Nurses are often the first and most sustained professional contact for these families; they are well placed to lead a two-step engagement pathway: first using capability-oriented language to lower the threshold to contact, then, within a trusting relationship, introducing emotion- and identity-level reflection and clear escalation to specialist care. Embedding father-inclusive, gender-sensitive and culturally safe competencies in nurse education and advanced practice would help nurses detect paternal need that symptom-based screening alone is likely to miss. IMPACT: What problems did the study address? Fathers of autistic children are disproportionately vulnerable to mental health difficulties yet remain peripheral to autism caregiving research and services. This is particularly the case in Asian contexts, where culturally specific masculine norms and disability-related stigma shape paternal help-seeking in under-examined ways. This study addressed how fathers in Singapore experience, interpret and cope with the mental health demands of raising an autistic child, and how stigma and support contexts influence their coping and help-seeking. What were the main findings? Fathers described their child’s autism diagnosis as a turning point that disrupted expected fatherhood trajectories and required them to reconstruct what it meant to be a competent and caring father. They conceptualised mental health through functional capacity and moral duty rather than through emotional distress language, and they navigated compounded help-seeking barriers arising from the intersection of courtesy stigma, affiliate stigma and Confucian-influenced masculine norms. Autism-specific, peer-based, activity-embedded support emerged as the most acceptable form of help, while professional mental health services were positioned as a last resort. Where and on whom will the research have an impact? The findings will inform nurses, mental health clinicians, paediatric and early intervention professionals and policymakers designing father-inclusive autism caregiving services in Singapore and comparable multi-ethnic Asian contexts. The study will also extend the global autism caregiving evidence base by contributing an underrepresented Southeast Asian paternal perspective that foregrounds identity, masculinity and cultural stigma as central to paternal mental health. REPORTING METHOD: COREQ guideline. PATIENT OR PUBLIC CONTRIBUTION: This study did not include patient or public involvement in its design, conduct or reporting.

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10. Plank IS, Koehler JC, Eckelmann J, Bierlich AM, Musil R, Koutsouleris N, Falter-Wagner CM. Prediction models for highly scalable technology-assisted differential diagnostics of autism spectrum disorder. BMJ Ment Health. 2026; 29(1).

BACKGROUND: Diagnosing autism spectrum disorder (ASD) in adulthood is time-consuming and markedly complicated by the requirement to distinguish between ASD and differential diagnoses also associated with social interaction difficulties, such as borderline personality disorder (BPD)-a distinction for which currently no valid screening or diagnostic tool exists. While technology-assisted diagnostics (TAD) has emerged, existing algorithms have focused on classifying between ASD and no diagnosis, not fully addressing clinical reality. OBJECTIVE: Therefore, we assessed the feasibility of TAD for differential diagnostics by classifying between ASD and BPD in this proof-of-concept study. METHODS: We collected a rich multimodal dataset of reciprocal interactions, specifically dyadic conversations (n=120 interaction partners). From this data, we extracted more than 800 features, allowing us to capture the core area of defining symptoms for both conditions: social interactions. These features include speech patterns, facial expressions, movement quantity and interpersonal synchrony. We used these features to train and stack linear support vector machines to classify between ASD-involved, BPD-involved and comparison interaction partners. FINDINGS: Base models capturing facial expressions during speaking and listening, speech patterns, synchronisation of facial expressions and movement quantity all performed above chance when differentiating between ASD-involved and BPD-involved interaction partners. Stacking all base models containing conceptually related features further increased accuracy, with our algorithm achieving nearly 82% of balanced accuracy, solely based on 20 min of conversation. CONCLUSIONS: Our proof-of-concept study shows the immense potential of TAD for differential diagnostics: data collection only requires microphones and webcams while feature-extraction is automated, making this approach highly objective, scalable and user-friendly. CLINICAL IMPLICATIONS: Our TAD algorithm shows the potential of multimodal, behavioural data for differential diagnostics. On the basis of clinical validation such an algorithm has the potential to streamline differential diagnoses of ASD in the future, enabling faster and more accurate diagnostic assessment and ultimately reducing patient distress by shortening the wait for an appropriate treatment plan.

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11. Protyasha NF, Pei S, Williamson JR, Sarnie L, Nowinski L, Kosmyna N, Pecukonis M, Townsend PH, Yuditskaya S, McDougle CJ, Quatieri TF, Maes P, Mody M. Exploring motor speech patterns in adults with minimally verbal autism spectrum disorder through surface electromyography. Front Hum Neurosci. 2026; 20: 1757743.

INTRODUCTION: It is well known that standardized neuropsychological testing frequently fails to capture the true capacity and full range of abilities in individuals with minimally verbal autism spectrum disorder (mvASD) due to difficulties with motor speech skills. Here we used Surface Electromyography (sEMG), a non-invasive method that captures action potentials during muscle movements, to examine the motor basis of speech production challenges in adults with minimally verbal autism spectrum disorder (mvASD). METHOD: sEMG data were collected from 8 sensors placed on the face and neck while participants performed four speech tasks: imitation, naming and reading words, and a syllable repetition task (diadochokinetic, DDK). We compared adults with mvASD and neurotypical controls (NT) on RMS amplitude and mean correlation between the sEMG signals and movement complexity measures derived from auto and cross-correlation structures of the signal to capture the dynamic coordination of muscle activity during speech production. Principal component analysis was applied to reduce the eigenvalue features to a compact speech-motor representation used as input to leave-one-out cross-validated predictive models of group. RESULTS: Across all speech tasks, the mvASD group consistently demonstrated stronger correlations between sensor signals from muscles on the face and neck compared to NT. The finding suggests tighter coupling of muscle activity reflecting potentially less differentiated muscle movement control during speech production. This is in keeping with a pattern of lower complexity of motor coordination related to reduced degrees of freedom in mvASD compared to NT participants. CONCLUSION: The findings extend previous work by demonstrating that sEMG features capture differences in muscle coordination patterns between adults with mvASD and neurotypical individuals across multiple speech tasks. Additionally, dimensionality-reduced EMG representations derived from imitation and diadochokinetic (DDK) tasks showed the strongest ability to distinguish between groups, suggesting that speech tasks that involve reproducing the utterances presented may be particularly sensitive to atypical speech-motor control in mvASD. These results support the potential of sEMG as an objective tool for characterizing speech-motor performance and informing assessment approaches for minimally verbal individuals.

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12. Shi Y, Gao F, Liu Z, Cai K, Sun Z, Xu Y, Zou L, Chen A. Dose-related effects of acute cycling on executive function in children with autism spectrum disorder: a within-subject repeated-measures study. Front Psychol. 2026; 17: 1902127.

BACKGROUND: Exercise has shown promise for supporting executive function in children with autism spectrum disorder (ASD), but findings remain inconsistent, partly because exercise dose has not been examined systematically. This study examined the immediate effects of acute cycling with different combinations of intensity and duration on executive function in children with ASD. METHODS: A within-subject repeated-measures design was used. Thirty children with ASD completed one non-exercise sedentary control session at enrollment, followed by four counterbalanced cycling sessions arranged in a 2 × 2 exercise-dose matrix: 20 min low-intensity, 40 min low-intensity, 20 min moderate-intensity, and 40 min moderate-intensity cycling. Exercise intensity was monitored using the heart rate reserve method. Selected executive function components were assessed after each condition using the Early Years Toolbox, including the Go/No-Go task for inhibitory control and the Mr. Ant task for working memory. Repeated-measures analyses of variance were conducted, followed by FDR-corrected planned comparisons between each exercise condition and the sedentary control condition. RESULTS: Significant condition effects were observed for Go reaction time (p = 0.024, partial η(2)  = 0.092), No-Go reaction time (p = 0.006, partial η(2)  = 0.116), Go accuracy (p = 0.046, partial η(2)  = 0.080), No-Go accuracy (p = 0.006, partial η(2)  = 0.115), and the inhibitory-control composite score (p < 0.001, partial η(2)  = 0.405). Moderate-intensity exercise showed the clearest post-session advantages relative to sedentary control, with the 40-min moderate-intensity condition showing the most consistent pattern across inhibitory-control outcomes. For the inhibitory-control composite score, all four exercise conditions were higher than sedentary control. No significant condition effect was found for working memory (p = 0.353, partial η(2)  = 0.037). CONCLUSION: Acute cycling may have selective short-term effects on selected executive function components in children with ASD. Moderate-intensity cycling, particularly a 40-min session under the present protocol, was associated with more favorable inhibitory-control performance, whereas immediate changes in working memory were not observed. These findings should be interpreted in light of the non-counterbalanced sedentary control session. CLINICAL TRIAL REGISTRATION: https://www.chictr.org.cn/showproj.html?proj=248491, ChiCTR2400091872.

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13. Singh J, Chishti S, Ameenpur S, Fiori F, McFadden L, Mirza HA, Vidmar L, Zahavi Z, Santosh P. When Neurodevelopment Meets Autoimmunity: Pemphigus Foliaceus in Rett Syndrome Expands the Clinical Spectrum-A Case Report. Int J Mol Sci. 2026; 27(15).

Rett syndrome (RTT, OMIM 312750) is a complex multisystem neurodevelopmental disorder. Evidence suggests that RTT may have an autoimmune component and inflammatory activation. However, the autoimmune manifestations remain poorly described. Pemphigus foliaceus is a debilitating autoimmune blistering condition caused by IgG autoantibodies that target desmoglein-1 (Dsg1), resulting in widespread skin blistering and lesions. We report a case of pemphigus foliaceus in a 20-year-old female with RTT and discuss its clinical implications. Clinical data obtained from electronic health records were extracted and reviewed. Genetic testing was performed to identify the specific methyl-CpG-binding protein 2 (MECP2) mutation and on an expanded panel of 55 genes associated with pemphigus foliaceus and related blistering disorders. The individual had pemphigus foliaceus, which required immunosuppression, intravenous immunoglobulin (IVIg) therapy, and Rituximab. The disease trajectory was complicated by infections, aspiration pneumonia, and hypoxic cardiac arrest. There was progressive functional decline, and disease control was difficult to achieve, with frequent flares. Genetic testing confirmed a heterozygous pathogenic MECP2 variant (NM_001110792.1:c.952C>T; p.(Arg318Cys)). HLA genotyping identified alleles consistent with the HLA-DRB1*04:02-HLA-DQA1*03:01-HLA-DQB1*03:02 (DR4/DQ8) haplotype. Furthermore, genetic analysis identified a heterozygous DSG1 variant rs12967407. This study reports the first case of pemphigus foliaceus in RTT, expanding the clinical spectrum of RTT beyond its neurodevelopmental phenotype. The DR4/DQ8 haplotype, previously associated with pemphigus susceptibility, supports a background of genetic susceptibility in this individual. No causal association between RTT and pemphigus foliaceus can be inferred from this single case. Rather, this case demonstrates that a rare autoimmune disorder such as pemphigus foliaceus can co-occur with a pathogenic MECP2 mutation. The coexistence of a genetic and autoimmune disease can result in a more complex clinical presentation and treatment course. The case further emphasises the need for increased vigilance in identifying new and emerging systemic pathology alongside RTT.

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14. van Erp ML, Yuwattana W, Poolcharoen C, Saeliw T, Roytrakul S, Vanwong N, Hu VW, Trairatvorakul P, Chonchaiya W, Sarachana T. Peripheral blood mononuclear cell proteomic profiling reveals cytoskeletal- and chromatin-associated protein signatures in autism spectrum disorder. Brain Behav Immun Health. 2026; 56: 101319.

PURPOSE: We aimed to identify protein patterns in peripheral blood mononuclear cells (PBMCs) associated with autism spectrum disorder (ASD) diagnosis and clinical heterogeneity and to explore their relevance to biological processes implicated in ASD. METHODS: PBMC proteomic profiles were examined in a Thai cross-sectional cohort of 191 children with ASD and 106 typically developing (TD) controls. Mass spectrometry (LC-MS/MS) was performed to identify differentially expressed proteins (DEPs). Exploratory classification performance was assessed by ROC analysis across clinical subgroups. Associations between DEPs and behavioral and cognitive symptoms were evaluated using mixOmics multivariate integration. DEPs were further assessed for overlap with ASD-associated genes and previously reported ASD blood and brain proteomic datasets, and functionally annotated using protein-protein interaction and enrichment analyses. RESULTS: Thirty-nine annotated proteins were differentially expressed between children with ASD and TD controls, while a subset was associated with heterogeneity within ASD. Several DEPs were encoded by known ASD-associated genes and overlapped with proteins previously reported in ASD blood and brain studies. Functional analyses identified enrichment of cytoskeletal and chromatin-associated pathways, including an actin-centered protein interaction network. Multivariate integration analyses revealed associations between these proteins and behavioral, social, emotional, sensory, and cognitive phenotypes, while subgroup analyses indicated subtle molecular heterogeneity within ASD. CONCLUSION: PBMC proteomic profiles identified molecular signatures associated with ASD diagnosis and clinical heterogeneity in this discovery cohort. Exploratory network analyses highlighted cytoskeletal- and chromatin-associated proteins, supporting further evaluation of peripheral proteomics as a tool for investigating ASD biology and biologically informed stratification.

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15. Wang C, Dong Z, Jia J, Zhang G, Fan X, Zhang K, Xue W, Wang Q, Wang ZP, Lei S. « The protective buffer »: Adequate L4-S1 lordosis restoration reduces the symptomatic conversion of radiographic ASD and long-term revision rates – A 5-year multicenter cohort study. Eur Spine J. 2026.

BACKGROUND: Inadequate restoration of L4-S1 segmental lordosis (SL) is a recognized contributor to adjacent segment disease (ASD). However, evidence regarding its impact on long-term revision rates remains conflicting, primarily due to short follow-up periods that fail to capture the critical transition from radiographic degeneration to symptomatic disease. PURPOSE: To evaluate the 5-year impact of L4-S1 SL restoration on revision rates and to introduce the concept of « Symptomatic Conversion Rate » to quantify the clinical progression of ASD. STUDY DESIGN: A multicenter, retrospective cohort study. PATIENT SAMPLE: A total of 232 patients who underwent L4-S1 transforaminal lumbar interbody fusion (TLIF) with a minimum 5-year follow-up were included. The cohort was stratified into Adequate and Inadequate Restoration groups based on postoperative L4-S1 SL. OUTCOME MEASURES: The primary endpoint was the 5-year revision surgery rate. Secondary endpoints included radiographic parameters (pelvic tilt [PT], pelvic incidence-lumbar lordosis [PI-LL] mismatch), implant failure rates, and patient-reported outcome measures (Oswestry Disability Index [ODI], Visual Analog Scale [VAS]). The « Symptomatic Conversion Rate » (the percentage of patients with radiographic ASD progressing to symptomatic ASD) was also assessed. METHODS: Clinical and radiographic data collected at a minimum of 5 years postoperatively were retrospectively analyzed. The cohorts were compared to assess the influence of L4-S1 SL restoration on long-term survivorship, functional recovery, and ASD progression. RESULTS: Baseline demographics and PI were comparable between groups (P > 0.05). At the 5-year follow-up, the Inadequate Group exhibited significant pelvic retroversion (PT increased to 21.82° vs. 17.26° in the Adequate Group, P < 0.001). Although radiographic ASD was prevalent in both cohorts (58.1% vs. 38.1%), the Symptomatic Conversion Rate was markedly higher in the Inadequate Group (73.3% vs. 28.1%, P < 0.001). Consequently, the 5-year revision rate was significantly greater in the Inadequate Group (26.4% vs. 2.4%, P < 0.001). The Inadequate Group also demonstrated inferior ODI scores (28.5 vs. 14.2, P < 0.001) and an increased incidence of screw loosening. CONCLUSIONS: Inadequate L4-S1 SL restoration is an independent risk factor for long-term revision surgery and implant failure following TLIF. Precise restoration provides a crucial "biomechanical buffer," preventing compensatory pelvic retroversion and significantly reducing the conversion of radiographic ASD into symptomatic disease. Achieving this protective buffer should be a primary surgical objective to maximize long-term construct survivorship.

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16. Wilde M, Ghanbari A, Mancienne T, Moran A, Poulsen RE, Constantin L, Lee C, Scholz LA, Arnold J, Qin W, Karle TJ, Petrou S, Favre-Bulle I, Hoffman EJ, Scott EK. Brain-wide circuitry underlying altered auditory habituation in zebrafish models of autism. J Neurosci. 2026.

Auditory processing is widely understood to occur differently in autism, though the patterns of brain activity underlying these differences are not well understood. The diversity of autism also means brain-wide networks may change in various ways to produce similar behavioral outputs. We used larval zebrafish to investigate auditory habituation in three genetic lines relevant to autism: fmr1, mecp2, and cntnap2 In free-swimming behavioral tests, we found each line had a unique profile of auditory hyper-responsiveness and/or reduced habituation compared to wild types. Combining the optical transparency of larval zebrafish with genetically encoded calcium indicators and light-sheet microscopy, we then observed brain-wide activity at cellular resolution during repeated sound stimuli. Each line showed unique alterations in brain-wide spontaneous activity, auditory processing, and adaptation in response to repetitive acoustic stimuli. We also observed commonalities in activity across our genetic lines that indicate shared circuit changes underlying certain aspects of their behavioral phenotypes. These were predominantly in regions involved in sensory integration and sensorimotor gating rather than primary auditory areas. Overlapping phenotypes include differences in the activity and functional connectivity of the telencephalon, dopaminergic regions, and the locus coeruleus. Unique phenotypes include increased activity in auditory regions and excitatory/inhibitory imbalance in the cerebellum in fmr1, and differences in network activity over time in mecp2 and cntnap2 Comparing these distinct but overlapping brain-wide auditory networks suggests that diverse genetic factors may contribute to similar behavioral effects through a range of circuit- and network-scale mechanisms.Significance statement Wilde et al. compare auditory habituation phenotypes in three genetic zebrafish models of autism. Of particular interest, several lines had overlapping behavioral phenotypes despite distinct patterns of brain-wide activity and network organization. Rather than pointing to a single mechanism underlying altered sensory responses, the data instead suggest there may be multiple neural routes to superficially similar sensory behaviors. This fits with growing discussions in human research that auditory processing in autism is unlikely to reflect one unified phenotype, but instead a diverse set of sensory profiles and underlying neural processes. Comparing across multiple genetic models and levels of neural organization may therefore help strengthen links between mechanistic animal work and the variability described in human sensory research in autism.

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17. Zhu XN, Wang LL, Qi ZX, Yang J, He TY. [A case of developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities caused by ZNF699 variation]. Zhonghua Er Ke Za Zhi. 2026; 64(8): 949-51.

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