1. Ahmed Z, Thahiem S, Bakhsh A, Khan MJ, Umair M, Khan H. Homozygous Variant in NADSYN1 Causes Multiple Congenital Vertebral Malformation, With Neurodevelopmental Disorder. Int J Dev Neurosci;2026 (May);86(3):e70140.

Congenital NAD deficiency (CNDD) is a rare autosomal recessive disorder characterized by multiple congenital anomalies, frequently affecting the spine, kidneys, heart and nervous system. NADSYN1 is one of the genes of the NAD pathway that is mutated in CNDD. Here, we report a 5-year-old boy from a consanguineous family presenting with multiple vertebral segmentation defects, developmental delay and intellectual and speech impairment. To identify the disease-causing variant, whole-exome sequencing (WES) coupled with Sanger sequencing was performed. WES identified a biallelic missense variant c.193C>T (p.His65Tyr) in the NADSYN1 gene affecting a highly conserved amino acid within the glutaminase domain. This case expands the clinical and mutational spectrum of NADSYN1 related CNDD, highlighting a predominantly skeletal phenotype with neurodevelopmental involvement and emphasizing the importance of NAD biosynthesis in early development.

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2. Alharran AM, Aldousari AH, Alnajdi S, Alwazzan LT, Alsaid MA, Alkandari DK, Alsalem K, Alazemi WB. Acceptance and Commitment Therapy for the Parents of Children and Adolescents with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis of Randomized Controlled Trials: La thérapie d’acceptation et d’engagement pour les parents d’enfants et d’adolescents atteints de troubles du spectre de l’autisme : une revue systématique et une méta-analyse d’essais contrôlés à répartition aléatoire. Can J Psychiatry;2026 (May 19):7067437261450738.

BackgroundParents of children with autism spectrum disorder (ASD) experience significantly higher levels of stress, anxiety and depression. Acceptance and Commitment Therapy (ACT) has emerged as a promising intervention; however, the evidence remains inconsistent. This meta-analysis aims to evaluate the efficacy of ACT-based interventions in parents of children and adolescents with ASD.MethodsIn February 2026, we conducted a systematic search of PubMed, Scopus, Web of Science, Cochrane Library and Embase for randomized controlled trials (RCTs) assessing ACT-based interventions in parents of children/adolescents with ASD. For the meta-analysis, we used R software (version 4.5.0) with RStudio (2024.12.1 + 563) and the meta package.ResultsWe included seven RCTs with a total of 698 participants. Acceptance and Commitment Therapy significantly reduced parenting stress compared to control conditions, as measured by the Parenting Stress Index – Short Form Total Stress (mean difference [MD] = -7.05, 95 per cent CI -9.90 to -4.19, p < 0.0001, I(2) = 0 per cent), with consistent improvements across all subscales (Parental Distress, Parent-Child Dysfunctional Interaction and Difficult Child). Acceptance and Commitment Therapy also significantly improved psychological flexibility on the Acceptance and Action Questionnaire-II and Parenting Sense of Competence scale. For child outcomes assessed in our analysis, ACT significantly reduced total difficulties on the Strengths and Difficulties Questionnaire (MD = -2.80, 95 per cent CI -4.71 to -0.88, P = 0.004, I(2) = 0 per cent) and conduct problems (MD = -0.98, 95 per cent CI -1.62 to -0.33, P = 0.003, I(2) = 0 per cent).ConclusionAcceptance and Commitment Therapy-based interventions may be effective for reducing parenting stress, improving psychological flexibility, enhancing parenting competence and reducing child behavioural difficulties in parents of children with ASD. However, the limited number of studies and clinical heterogeneity might limit our findings, highlighting the need for future large-scale RCTs with longer follow-up. Does acceptance and commitment therapy help parents of children with autism?Plain Language SummaryParents of children with autism often experience high levels of stress, anxiety and emotional challenges. This study looked at whether a type of psychological support called Acceptance and Commitment Therapy (ACT) can help improve parents’ well-being.We reviewed results from seven high-quality studies involving 698 parents. These studies compared ACT with usual care or no treatment. We found that parents who received ACT had lower stress levels and felt more confident in their parenting. They were also better able to handle difficult thoughts and emotions, which helped them cope more effectively with daily challenges. In addition, children of parents who received ACT showed some improvements in behavior, especially fewer conduct problems and overall difficulties. However, ACT did not significantly improve all areas of children’s emotional or social functioning. Overall, ACT appears to be a helpful approach for supporting parents of children with autism. It focuses on helping parents accept difficult feelings, stay present, and act according to their values, rather than trying to eliminate stress completely. However, the number of studies was small, and the programs varied in how they were delivered. More research is needed to confirm these findings and to understand long-term effects. eng

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3. Alili Ademi L, Sukarova-Angelovska E, Nonkulovski D, Ademi B. GNB1-related neurodevelopmental disorder due to a pathogenic exon 6 variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism. BMJ Case Rep;2026 (May 19);19(5)

GNB1-related neurodevelopmental disorder is a rare developmental encephalopathy caused by pathogenic variants in GNB1 The disorder presents with early-onset developmental delay, hypotonia, movement disorders, seizures and/or epilepsy and varied electroencephalographic (EEG) findings, which may occur even in the absence of seizures.We report a male toddler with early-onset global developmental delay, hypotonia, dysmorphic features, bilateral sensorineural hearing loss, nystagmus, transient neonatal focal seizures and emerging EEG findings. Genetic testing identified a pathogenic GNB1 missense variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism.This case illustrates the clinical variability of GNB1 encephalopathy, expands the spectrum of reported inheritance patterns and highlights the importance of early genetic testing of infants with developmental delay and pathological EEG patterns. Recognition of the electroclinical patterns is essential for early diagnosis, genetic counselling and multidisciplinary management. The future expansion of longitudinal clinical and EEG data will be essential for prognosis and possible future therapeutic approaches.

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4. Angus DC. Autism-Understanding Diagnosis, Prevalence, and Treatment: A Healthy Dialogue With Jeremy Veenstra-VanderWeele and Dost Öngür. Jama;2026 (May 19);335(19):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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5. Davies J, Brinkert J, Irvine B, Elise F, Farran EK, Milne E, Scerif G, Remington A. Superior perceptual capacity is specific to autistic cognition. Acta Psychol (Amst);2026 (May 19);267:107088.

OBJECTIVES: To systematically measure perceptual capacity for autistic, ADHD, autistic people with ADHD (AuDHD), and neurotypical adult populations, and to examine whether increased perceptual capacity represents a specific feature of autism or extends to other neurodivergent groups. METHODS: UK-based adults (n = 270: 69 autistic, 66 ADHD, 65 AuDHD, and 70 neurotypical), aged 18 to 40 years of age, took part in an online, computer-based perceptual capacity paradigm. Participants performed a target detection task with various levels of perceptual load (set size) and distractor congruency. RESULTS: Pre-registered Analysis of Variance and Generalized Linear Models/Linear Mixed-Effects Models indicated a significant group by set size interaction for reaction time. This was driven by a plateau in reaction time from set size 4 for the neurotypical group. There were no significant main effects of group for accuracy or reaction time. Exploratory analyses showed autistic participants demonstrated significantly stronger congruency effect (greater slowing from incongruent distractors) at moderate load levels than neurotypical participants, with a similar trend for those with AuDHD, but not ADHD. CONCLUSIONS: These findings suggest that increased perceptual capacity might be a unique aspect of autistic cognition. This offers important insight into the differing cognitive underpinnings that may give rise to attentional challenges experienced by autistic people and those with ADHD and consequently, alternative recommendations regarding individualised approaches to support.

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6. Liu CH, Lin WC, Man LLY, Wu CJ, Tafarodi RW, Fang L, Penner M, Ni HC, Lai MC. « Autism Diagnosis as a Guide »: Taiwanese Adolescents’ Own Experiences of Receiving Autism Diagnoses. Autism;2026 (May 19):13623613261444800.

Receiving an autism diagnosis can significantly contribute to adolescent identity formation via different processes, such as coping with stigmatization and/or reframing the diagnosis as a foundation for self-understanding and self-acceptance. Despite the presumed importance of cultural context in this regard, little is known about how autistic adolescents experience their autism diagnoses in non-Western countries. We aimed to understand the experiences of Taiwanese autistic adolescents receiving autism diagnoses in a relationship-oriented, non-Western culture. Eight autistic adolescents aged 14-18 years (three assigned-male, five assigned-female) participated in in-depth individual interviews, with data analyzed by reflexive thematic analysis. These Taiwanese autistic adolescents used their autism diagnoses to gain self-understanding and guide social interactions, specifically, (a) to explain past experiences in relation to both positive and negative stereotypes about autism; (b) as a guide to autism knowledge and to provide a framework for modifying one’s own behaviors; (c) to seek connections with autistic peers and to be understood by non-autistic people; and (d) to negotiate with the Taiwanese educational system in meeting their needs. This study offers a qualitative, in-depth perspective on how autistic adolescents in a relationship-oriented, non-Western society experience and navigate their autism diagnoses-as a resource for identity construction and social position.Lay AbstractReceiving an autism diagnosis can come with different emotional and cognitive responses, such as feeling stigmatized and/or reframing this experience as a foundation for self-understanding and self-acceptance. This process is especially impactful during the teenage years, when young people typically begin to actively explore who they are. Because most previous research has been conducted in Western countries, we know very little about the experiences receiving an autism diagnosis in non-Western, relationship-oriented cultures, where fitting in with the group is often valued more than standing out. In this study, we interviewed eight autistic adolescents in Taiwan, aged 14-18 years, to understand how they experienced their autism diagnoses. We found that these Taiwanese autistic adolescents used their diagnoses to better understand themselves and guide their interactions with other people. Some used it to explain their past experiences and relieve themselves of guilt. Some said it helped them understand more about their own behavioral tendency and adjust their behavior accordingly. The diagnosis also helped them connect with their autistic peers, communicate effectively with non-autistic people, and ask for support within the school system. This study highlights the voices of Taiwanese autistic teenagers about their experiences of receiving an autism diagnosis. It shows how autism diagnoses can promote self-understanding and social coping.

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7. Otani Y, Zhu X, Liu X, Koga K, Kawabata R, Miyajima H, Takumi T, Fujitani M. Restoration of axon initial segment plasticity via chemogenetic activation rescues autism-related behaviors. Cell Death Dis;2026 (May 19)

Autism spectrum disorder (ASD) presents a major clinical challenge, necessitating the identification of novel therapeutic targets rooted in its underlying pathophysiology. The axon initial segment (AIS) is the critical site for action potential initiation and a hub for homeostatic plasticity; however, its involvement in ASD remains poorly defined. Herein, we report significant structural and functional deficits in the AIS within a clinically relevant ASD mouse model harboring a 15q11-13 duplication (15q dup). We observed that pyramidal neurons in the medial prefrontal cortex (mPFC) exhibited shortened AIS, resulting in reduced neuronal excitability and impaired plasticity. Importantly, these abnormalities were specific to long-range circuits, including the mPFC-dorsal raphe nucleus (DRN) pathway, which is critical for social behavior. We employed a circuit-specific chemogenetic strategy that activates these mPFC-DRN projection neurons to test the reversibility of this phenotype. Remarkably, this targeted intervention normalized AIS structure and rescued core ASD-like behaviors, including social interaction deficits and repetitive behaviors. These results demonstrated that AIS alterations in this ASD model represent a reversible form of maladaptive plasticity, rather than permanent neuropathology. Our study highlights circuit-specific AIS modulation as a promising novel avenue for therapeutic interventions aimed at correcting fundamental neuronal excitability deficits in ASD.

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8. Ou J, Sun C, Zhang L. A cross-sectional study on the quality of pediatric autism-related videos on short video platforms. Sci Rep;2026 (May 19)

This study evaluated the information quality, content characteristics, and distribution patterns of short videos concerning pediatric autism on three major Chinese platforms: TikTok, Bilibili, and Rednote. Employing a cross-sectional design, we retrieved videos using the keyword  »pediatric autism » and analyzed 279 eligible entries. We collected basic video characteristics and engagement metrics, while video quality and reliability were assessed using the Global Quality Scale (GQS), the modified DISCERN (mDISCERN) instrument, the Journal of the American Medical Association (JAMA) criteria, and the Video Information and Quality Index (VIQI). Overall video quality was moderate, with a median GQS score of 3, but information reliability was poor, indicated by a median JAMA score of 1. Significant inter-platform differences emerged (p < 0.05): Bilibili videos were the longest, TikTok had the highest proportion of uploaders who were healthcare professionals (69.89%) and exhibited greater user engagement, whereas Rednote was dominated by individual users and contained a higher proportion of low-quality videos. Information on treatment costs was notably insufficient across all platforms. In conclusion, the quality of pediatric autism-related health information on short-video platforms varies substantially by platform, revealing a mismatch between available information and user needs. Enhancing professional content review mechanisms and encouraging greater participation by healthcare professionals could improve the dissemination of practical and reliable health information.

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9. Sahin B. Response to Charki et al. (2025) « Examining the association between variation of ASD and cognitive and affective domains of mentalizing in verbal children with ASD ». Appl Neuropsychol Child;2026 (May 19):1-2.

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10. Taylor F, Ahmed N, Pemovska T, Dar F, Lloyd-Evans B, Johnson S. Autistic adults’ experiences of accessing and receiving mental health care and their priorities for improvements: A qualitative study. PLOS Ment Health;2026;3(5):e0000581.

Autistic adults are disproportionately affected by mental health conditions yet face significant barriers in accessing support and receiving suitable care. To understand this disparity better, using qualitative methods, we investigated the experiences of autistic adults in accessing and receiving mental health care and their priorities for improvement. Thirteen autistic adults with experience of mental health services in England were purposively selected to participate in semi-structured interviews. Reflexive thematic analysis principles guided the analysis of interview transcripts. Participants felt that an understanding of autism was key for professionals to provide effective support, and reported this was often lacking, resulting in insufficient recognition for their autism-specific needs, feelings of neglect and inadequate treatment. Inconsistent services, including varying appointments and unfamiliar professionals exacerbated anxiety and hindered treatment benefits. A recurring theme of validation emerged as participants expressed a shared sense of not being believed or taken seriously within the context of mental health support. In terms of priorities for improving services, adaptability was a central focus, while better understanding and addressing the specific needs of autistic people was considered crucial. Participants – females in particular – emphasised the need for professionals to adopt more effective communication strategies as they felt that poor communication and misunderstandings often delayed autism diagnoses. To enhance mental health support for autistic adults and mitigate negative outcomes, increasing mental health professionals’ understanding of autism is vital. Further research is needed to understand the manifestations and risk factors of mental health conditions in autistic adults. Participants stressed that autistic people need to be directly involved in driving these priorities and guiding the enhancement and adaptation of mental health care to meet their needs.

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11. Verma J, Singh RK, Paul S, Gupta S, Gupta AK, Sharma AK, Kumar M, Mehan S, Samant R, Tongra M. Converging neurotrophic-immune signaling in autism spectrum disorder: integrative roles of klotho, GDNF/GFRA-1, IGF-1 and GLP-1 pathways. Metab Brain Dis;2026 (May 19);41(1)

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by deficits in social communication and restricted, repetitive behaviors. Although traditionally linked to synaptic protein dysfunction and neurotransmitter imbalance, growing evidence suggests that broader intracellular signaling networks critically regulate the neurodevelopmental processes disrupted in ASD. This review synthesizes current evidence on four interconnected signaling pathways-Klotho, GDNF/GFRA-1, IGF-1, and GLP-1-and examines their potential roles in ASD pathophysiology within a unified mechanistic framework. These pathways regulate fundamental processes, including neuronal survival, synaptogenesis, dendritic maturation, myelination, modulation of oxidative stress, neuroinflammation, and metabolic homeostasis. Importantly, they converge on shared intracellular cascades such as PI3K/Akt, MAPK/ERK, mTOR, and Wnt/β-catenin, which are increasingly implicated in ASD-related abnormalities in synaptic plasticity and circuit organization. Experimental models demonstrate that dysregulation of these signaling systems can impair hippocampal function, alter excitatory-inhibitory balance, and disrupt structural connectivity. Among them, IGF-1 has shown promising translational potential in clinical trials for syndromic ASD, while GLP-1 receptor agonists and Klotho modulation represent emerging therapeutic avenues. The GDNF/GFRA-1 axis further highlights the importance of trophic support in maintaining synaptic integrity and neuronal resilience. By integrating molecular, preclinical, and clinical findings, this review proposes that convergent dysregulation of trophic and metabolic signaling pathways may contribute to ASD heterogeneity. A systems-level understanding of these interconnected mechanisms may facilitate biomarker development and support the advancement of stratified, pathway-targeted therapeutic strategies.

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12. Wong O, Zheng Z, Wang M, Cao A, Chan FKL, Ng SC, Su Q. Microbiome biomarkers in autism spectrum disorder: Toward prediction, diagnosis, and prognosis. Cell Rep Med;2026 (May 19);7(5):102780.

Autism spectrum disorder (ASD) is a heterogeneous condition that lacks objective diagnostic biomarkers, often resulting in delayed intervention. Evidence increasingly links gut microbiota dysregulation to ASD pathophysiology via the microbiota-gut-brain axis, suggesting plausible translational applications. This review outlines mechanistic insights from preclinical and clinical studies to illustrate how microbial disturbances affect neurodevelopment. It examines the evolution of biomarker research from early 16S rRNA sequencing to advanced shotgun metagenomics incorporating functional integration, multi-omics, and genomic variants. Such advancements enhance diagnostic accuracy and generalizability. Although clinical causal evidence remains indirect, these microbial signatures show potential for early diagnosis, presymptomatic risk prediction, and tailored therapies. Key challenges include prospective validation in diverse cohorts, specificity testing against comorbidities, and addressing clinical heterogeneity. By summarizing methodological gaps and providing future guidance, this review aims to bridge mechanistic research and clinical practice to improve outcomes across the spectrum.

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