1. Correction to « Understanding the nature of face processing in early autism: A prospective study » by Tye et al. (2022). J Psychopathol Clin Sci;2025 (Aug);134(6):688-689.

Reports an error in « Understanding the nature of face processing in early autism: A prospective study » by Charlotte Tye, Giorgia Bussu, Teodora Gliga, Mayada Elsabbagh, Greg Pasco, Kristinn Johnsen, Tony Charman, Emily J. H. Jones, Jan Buitelaar and Mark H. Johnson (Journal of Psychopathology and Clinical Science, 2022[Aug], Vol 131[6], 542-555; see record 2022-84900-002). In the article (Journal of Psychopathology and Clinical Science, 2022, Vol. 131, No. 6, pp. 542-555, https://doi .org/10.1037/abn0000648), in the second paragraph of the Group-Level Differences section of the Results, in the sentence beginning « Specifically, the EL-ASD group had longer P1 latency to gaze shifting away versus toward … » the phrase « away versus toward » should have read « toward versus away. » In the same paragraph, « Finally, there was enhanced P400 amplitude to gaze shifting . . . » should have read « Finally, the TL group showed enhanced P400 amplitude to gaze shifting away versus toward the viewer . . . .  » In Panels A, B, and C of Figure 2, the TL and EL-no ASD groups are incorrectly keyed to each other’s colors. The corrected figure is provided. (The following abstract of the original article appeared in record 2022-84900-002.) Dimensional approaches to psychopathology interrogate the core neurocognitive domains interacting at the individual level to shape diagnostic symptoms. Embedding this approach in prospective longitudinal studies could transform our understanding of the mechanisms underlying neurodevelopmental disorders. Such designs require us to move beyond traditional group comparisons and determine which domain-specific alterations apply at the level of the individual, and whether they vary across distinct phenotypic subgroups. As a proof of principle, this study examines how the domain of face processing contributes to the emergence of autism spectrum disorder (ASD). We used an event-related potentials (ERPs) task in a cohort of 8-month-old infants with (n = 148) and without (n = 68) an older sibling with ASD, and combined traditional case-control comparisons with machine-learning techniques for prediction of social traits and ASD diagnosis at 36 months, and Bayesian hierarchical clustering for stratification into subgroups. A broad profile of alterations in the time-course of neural processing of faces in infancy was predictive of later ASD, with a strong convergence in ERP features predicting social traits and diagnosis. We identified two main subgroups in ASD, defined by distinct patterns of neural responses to faces, which differed on later sensory sensitivity. Taken together, our findings suggest that individual differences between infants contribute to the diffuse pattern of alterations predictive of ASD in the first year of life. Moving from group-level comparisons to pattern recognition and stratification can help to understand and reduce heterogeneity in clinical cohorts, and improve our understanding of the mechanisms that lead to later neurodevelopmental outcomes. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

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2. Al-Mamari W, Idris AB, Fadlallah N, Jalees S, Al-Jabri M, Al-Shehhi H, Mohammed M, Alsayegh A. Consanguinity: The innocent culprit in autism severity. Sultan Qaboos Univ Med J;2025;25(1):114-121.

OBJECTIVES: This study aimed to investigate the relationship between consanguinity and the severity of autism spectrum disorder (ASD), a neurodevelopmental condition influenced by both genetic and environmental factors. METHODS: This retrospective study, conducted at the Genetic & Developmental Medicine Clinic at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, examined the records of 139 children aged 1.5 to 14 years who were diagnosed with ASD between June 2011 and May 2024. The study analysed the correlation between consanguinity, homozygosity and ASD severity. RESULTS: Of the 139 cases evaluated, 74.1% were male, with an average age of diagnosis of 4.5 ± 2 years. Most ASD cases were classified at severity levels 2 (63.3%) and 3 (35.3%). Consanguinity was reported in 59% of the cases, with a mean homozygosity rate of 4.6%. No significant correlation was found between consanguinity or homozygosity rates and ASD severity. CONCLUSIONS: No significant association was found between consanguinity or homozygosity rates and ASD severity. Further research is necessary to explore the genetic mechanisms underlying ASD in consanguineous populations.

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3. Arslan B, Kizilay E, Turan YE, Verim B, Demirlek C, Demir M, İlhan Ö, Cesim E, Bora E. Computational linguistic investigation in schizophrenia and autism spectrum disorders. Psychiatry Res;2025 (Jul 8);351:116633.

Computational linguistic analysis has been increasingly used to capture formal thought disorder in schizophrenia. Despite promising outcomes, investigations of the computational linguistic disturbances of schizophrenia in a transdiagnostic context are limited. Particularly, shared characteristics, neurodevelopmental origins, and the role of speech in the diagnosis of schizophrenia and autism indicate a need to explore both the commonalities and distinctions in the computational linguistic profiles of these groups. In this study, we investigated the semantic and structural properties of speech samples of 35 patients with schizophrenia spectrum disorder, 25 patients with autism spectrum disorder, and 25 healthy controls in free speech and picture description tasks. Our findings showed that only 5 of 45 features differed between the clinical groups. All of these were from the structural domain, while semantic features did not differ between these neurodevelopmental disorders. The clinical groups demonstrated elevated local and global semantic similarity, and negative sentiment compared to controls. Moreover, the speech of autism spectrum disorder included lower unique word frequency in picture description, alongside shorter pronouns and adverbs in free speech relative to other groups. Schizophrenia spectrum disorder used shorter adjectives than autism spectrum disorder and controls in free speech. Importantly, adjective frequency in schizophrenia spectrum disorder was lower than in autism spectrum disorder in free speech. Overall, our findings demonstrated an extensive dominance of similar computational linguistic traits between schizophrenia and autism spectrum disorders, indicating shared communication disturbances in these disorders. This outcome highlights the critical role of transdiagnostic and neurodevelopmental perspectives in computational linguistic investigations.

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4. Burrows CA, Elison JT, Piven J. Mitigating sex-related biases to elucidate the autism phenotype. Biol Psychiatry;2025 (Jul 11)

Autism spectrum disorder (ASD) is commonly considered a male-dominant condition, with epidemiological estimates finding that approximately 3-4 males are diagnosed for every female. An overwhelming majority of studies used to establish this sex ratio were conducted with participants ascertained based on having first met clinical criteria, which may obscure qualitative differences between males and females, and omits females who do not meet male-biased criteria. Our recently published data, which used a prospectively-identified sample of children at high-familial likelihood for ASD, corrected for sex-based measurement bias, and used data-driven groupings of behavior over time, were well-suited to address this issue and suggest the male-to-female ratio of autism-related concerns is closer to 1:1. In this review, we propose that research is needed that characterizes the autism phenotype, or behavioral expression of underlying genetic variation in autism-relevant traits. We describe shifts in sample ascertainment, methodological rigor, and scope of traits examined that may help elucidate the autism phenotype. A research program focusing on delineating the genetically-related, biological determinants of clinical disorders has the potential to reveal the full expression of underlying genetic liability for ASD and improve early identification of ASD-related concerns in females.

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5. Jourdon A, Mariani J, Natu A, Wu F, Li B, Capauto D, Hagy KT, Norton S, Tomasini L, Safi A, Amiri A, Schreiner J, Nguyen CK, Nolan N, Nelson MP, Ramos DM, Ward ME, Szekely A, McPartland JC, Pelphrey K, Ventola P, Chawarska K, Gersbach CA, Crawford GE, Abyzov A, Vaccarino FM. Enhancer-driven gene regulatory network of forebrain human development provides insights into autism. bioRxiv;2025 (May 11)

Cell differentiation is orchestrated by transcription factors (TFs) binding to enhancers, shaping gene regulatory networks that drive neuronal lineage specification. Deciphering these enhancer-driven networks in human forebrain development is essential for understanding the genetic basis of neurodevelopmental disorders. Through integrative epigenomic and transcriptomic analyses of human forebrain organoids derived from 10 individuals with autism spectrum disorder (ASD) and their neurotypical fathers, we constructed a comprehensive enhancer-driven gene regulatory network (GRN) of early neurodevelopment. This GRN revealed hierarchical regulatory transitions guiding neuronal differentiation and was experimentally validated via CRISPR interference (CRISPRi) and loss-of-function analyses. A subnetwork linked ASD-associated transcriptomic alterations to dysregulated TF activity, implicating FOXG1, BHLHE22, EOMES, and NEUROD2 as key regulators of excitatory neuron specification in macrocephalic ASD. These findings suggest that ASD disrupts enhancer-driven regulatory frameworks, altering neuronal cell fate decisions in the developing fetal brain.

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6. Justus SA, Hutson E, Summe J, Duarte A. Emotional Arousal-Induced Episodic Memory Benefits Are Attenuated in Autism Spectrum Disorders, Especially in Older Age. Autism Res;2025 (Jul 14)

Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder associated with episodic memory impairment. Although emotional factors such as arousal, as well as age and depression symptoms, are known to influence episodic memory in neurotypical (NT) populations, how these factors affect memory processes in ASD, which is associated with a higher prevalence of depression, remains unclear. In this large-scale online study, 326 adults (ages 18-67) with or without ASD (n = 163 per group) and varying levels of depressive symptoms rated their experienced arousal of positive, negative, and neutral images and performed a recognition task 48 h later. Adults with ASD reported lower arousal for positive images and exhibited reduced arousal-enhanced memory benefits for both positive and negative images compared to NT adults, independent of depression severity. Age further exacerbated this reduced arousal memory benefit in the ASD group, specifically for positive stimuli. These findings underscore the role of atypical emotional arousal in ASD on episodic memory, with age-related declines suggesting accelerated vulnerability in positive memory retention.

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7. Kaur R. Oral inferential comprehension intervention program for children with Autism: A randomized controlled trial. MethodsX;2025 (Jun);14:103203.

The study develops a structured and manualized treatment model to enhance oral inferential communication (IC) skills in children with Autism (CWA). Inferential comprehension, involving the understanding of hidden meanings and contextual cues, is a critical component of language, social, and cognitive development. While existing interventions focus heavily on literal language, the lack of specialized programs for inferential comprehension leaves a significant gap in treatment options for CWA. To address this, the study introduces a treatment model that Speech-Language Pathologists (SLPs) can utilize to deliver targeted interventions. The program provides clear guidelines and a structured approach to help children bridge the gap between literal understanding and inferential language use, ensuring improved real-world communication skills. The intervention model is adaptable, evidence-based, and designed for integration into therapy practices, equipping SLPs with a reliable tool for enhancing inferential comprehension. By emphasizing the practical application of skills across varied contexts, the study contributes to developing standardized treatment protocols that support long-term communication outcomes.•Proposes a structured, evidence-based treatment model for improving inferential communication in children with Autism.•Provides SLPs with a practical framework to deliver targeted therapy programs.•Bridges the gap between literal language acquisition and real-world inferential comprehension.

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8. Li J, Chai X, Song D, Wang M, Sun P, Zhao Y, Ren D, Liu F, Ni H, Jiang Y, Zhu X, Li E, Zhao S. Acer truncatum oil ameliorates autism-like behaviours by promoting maturation of oligodendrocytes and inhibiting neuroinflammation: the role of the brain-gut axis. Food Funct;2025 (Jul 14);16(14):5771-5790.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social communication and repetitive behaviours. The gut microbiota plays a pivotal role in the etiology of autism spectrum disorder, and its modulation represents a promising therapeutic strategy to alleviate autism-like behaviours. The purpose of this study was to evaluate the effects of Acer truncatum oil (ASO) on autism-like behaviours in an autistic mouse model, BTBR T(+) Itpr3(tf)/J (BTBR) mice, and to assess the related molecular mechanisms. The juvenile BTBR mice were administered with ASO for 36 consecutive days by gavage. Behaviour tests showed that ASO remarkably alleviated the autism-like behaviours of BTBR mice. In addition, the supplementation with ASO promoted the maturation of oligodendrocytes and suppressed microglial over-activation, and reduced the IL-1β and TNF-α levels in the hippocampus of the BTBR mice. Oral ASO administration also improved gut microbiota imbalances in BTBR mice by reducing the abundance of the harmful bacterium Mycoplasma and the ratio of Firmicutes to Bacteroidetes. Additionally, ASO decreased the expression of TNF-α and IL-1β, and increased the levels of ZO-1, claudin-1 and occludin in the intestine, thereby reducing intestinal inflammation and repairing intestinal barrier damage. Our results indicate that ASO has great potential in the treatment of autism, providing theoretical basis for the development of autism drugs.

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9. Lockington DC, Gullon-Scott F. The Lived Experiences of Autistic Mothers: A Systematic Review and Thematic Synthesis of Qualitative Evidence. Autism Dev Lang Impair;2025 (Jan-Dec);10:23969415251343850.

BACKGROUND: Increasingly, research has explored autistic mothers’ experiences of motherhood. However, understanding is largely based on single studies. Existing syntheses of qualitative and quantitative research are highly specific, focusing on pregnancy, sensory, infant feeding, and perinatal periods. Thus, a review taking a broader perspective which encapsulates autistic mothers’ experiences beyond early motherhood is warranted. AIMS: To systematically identify, appraise, and synthesize existing qualitative research on autistic mothers’ experiences of motherhood to enrich understanding, and guide future research and practice. METHODS: A systematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), and a qualitative synthesis of extant peer-reviewed qualitative studies and grey literature sources using Thomas and Harden Thematic Synthesis. Methodological rigor was assessed using the Critical Appraisal Skills Programme (CASP) checklist. RESULTS: Three themes representing the collective experiences and perspectives of 629 autistic mothers from 23 primary studies were developed: « The Embodied Autistic Experience of Motherhood, » « Navigating the Non-Autistic World as an ‘Other’ Mother » and « Recalibrating Identities. » CONCLUSIONS: Autistic mothers report having unique autistic strengths and prioritizing their children. However, their experiences of motherhood are largely colored by autism-specific and identity-related challenges, and adverse experiences related to systemic, structural, and societal othering, specifically, from feeling policed, pathologized and overpowered by professionals. This translates into an increased prevalence of psychological difficulties and need for support. Further research, professional training, systemic changes, and societal awareness are urgently needed to inform understanding and support.

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10. Luo Y, Chen Q, Li F, Xu P, Zhang Y. Multi-Site rs-fMRI Domain Alignment for Autism Spectrum Disorder Auxiliary Diagnosis Based on Hyperbolic Space. IEEE J Biomed Health Inform;2025 (Jul 14);Pp

Increasing the volume of training data can enable the auxiliary diagnostic algorithms for Autism Spectrum Disorder (ASD) to learn more accurate and stable models. However, due to the significant heterogeneity and domain shift in rs-fMRI data across different sites, the accuracy of auxiliary diagnosis remains unsatisfactory. Moreover, there has been limited exploration of multisource domain adaptation models on ASD recognition, and many existing models lack inherent interpretability, as they do not explicitly incorporate prior neurobiological knowledge such as the hierarchical structure of functional brain networks. To address these challenges, we proposed a domain-adaptive algorithm based on hyperbolic space embedding. Hyperbolic space is naturally suited for representing the topology of complex networks such as brain functional networks. Therefore, we embedded the brain functional network into hyperbolic space and constructed the corresponding hyperbolic space community network to effectively extract latent representations. To address the heterogeneity of data across different sites and the issue of domain shift, we introduce a constraint loss function, Hyperbolic Maximum Mean Discrepancy (HMMD), to align the marginal distributions in the hyperbolic space. Additionally, we employ class prototype alignment to mitigate discrepancies in conditional distributions across domains. Experimental results indicate that the proposed algorithm achieves superior classification performance for ASD compared to baseline models, with improved robustness to multi-site heterogeneity. Specifically, our method achieves an average accuracy improvement of 4.03%. Moreover, its generalization capability is further validated through experiments conducted on extra Major Depressive Disorder (MDD) datasets. The code is available at https://github.com/LYQbyte/H2MSDA.

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11. Lv X, Tian P, Zhu X, Bian B, Liu Z, Zhao T, Dou L, Jie Y, Jia F, Li D. White matter correlates of language ability in chinese boys with autism spectrum disorder: a diffusional kurtosis imaging study. Eur J Pediatr;2025 (Jul 14);184(8):480.

Children with autism spectrum disorder (ASD) exhibit diverse language abilities, yet magnetic resonance imaging (MRI) studies have not systematically examined white matter microstructural differences based on language difficulties. This study aimed to use diffusional kurtosis imaging (DKI) and tract-based spatial statistics (TBSS) to investigate white matter variations in boys with ASD and explore their relationship with language abilities. The study included 61 boys with ASD and 30 typically developing (TD) peers. The ASD group was divided into mild (n = 28) and severe (n = 33) language difficulties subgroups based on the Griffiths Development Scales-Chinese Edition (GDS-C) scores. DKI data were collected for all participants, while clinical symptoms were assessed in the ASD group using the GDS-C and Autism Behavior Checklist (ABC) scales. Correlation analyses examined the relationship between diffusion metrics and clinical scale scores in ASD. Compared to TD peers, children with ASD exhibited significantly reduced white matter microstructural integrity in the corpus callosum (CC), fornix, bilateral corona radiata (CR), inferior longitudinal fasciculus (ILF), inferior fronto-occipital fasciculus (IFOF), and superior longitudinal fasciculus (SLF), with more pronounced reductions in the severe language difficulties subgroup. Additionally, in the mild language difficulties subgroup, mean kurtosis (MK) in the left CR was positively associated with GDS-C language subscale scores. In the severe language difficulties subgroup, MK in the right IFOF showed a positive association with GDS-C language subscale scores, while kurtosis fractional anisotropy (KFA) in the CC was negatively associated with ABC language subscale scores. CONCLUSION: These findings suggest that reduced white matter microstructural integrity in these tracts may be an important neurobiological factor associated with language difficulties in boys with ASD. Additionally, boys with severe language difficulties may exhibit more distinct and widespread white matter differences compared to those with mild difficulties. WHAT IS KNOWN: • Children with ASD often present with varying degrees of language difficulties; language delay is an early and sensitive indicator of ASD. • Previous DTI studies have identified white matter abnormalities in ASD, particularly in tracts related to language processing. WHAT IS NEW: • DKI analyses revealed graded white matter alterations in ASD children based on the severity of language difficulties. • Microstructural changes in specific language-related white matter tracts were significantly associated with language abilities.

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12. Marsicano G, Garofalo S, Ronconi L, Bertini C. Autistic and schizotypal traits influence audiovisual temporal binding window malleability following alpha-band entrainment. Biol Psychol;2025 (Jul 12);199:109082.

The likelihood of integrating audiovisual (AV) information is reflected in the construct of temporal binding window (TBW), which accounts for the differing processing times across sensory regions. Wider TBWs within the autistic and schizotypal spectrums predict the degree of cognitive-perceptual and socio-communicative atypicalities. Alpha oscillations (8-13 Hz) represent an important neural mechanism for AV binding, and consequently alpha-band entrainment can shrink or expand TBWs. However, whether interindividual differences in autistic and schizotypal traits influence TBW modulations under entrainment is unexplored. Here, we used alpha-band sensory AV entrainment to explore how individual traits affect TBW malleability in neurotypical individuals (n = 113), administering rhythmic stimulations at slower (∼8.5 Hz) and faster alpha (∼12 Hz) frequencies before an AV simultaneity judgement task. Participants self-reported autistic and schizotypal traits, and a cluster analysis stratified individuals into three groups: high Cognitive-Perceptual Traits (CPT), high Socio-Affective Traits (SAT), Low Traits (LT). Results revealed that, across groups, upper alpha entrainment narrowed TBWs, enhancing AV temporal acuity. However, following lower alpha stimulation, only the CPT group exhibited wider TBWs, indicating a heightened responsiveness to entrainment stimulation, reflecting bottom-up atypical integration of sensory information into coherent models. Additionally, the typical leading sense asymmetry determining narrower TBWs for auditory-leading sequences was observed only in the LT group, suggesting that even sub-clinical cognitive-perceptual and socio-communicative atypicalities may disrupt basic aspects of cross-modal interactions. These findings suggest that socio-communicative and cognitive-perceptual anomalies associated with autistic and schizotypal traits influence low-level aspects of temporal binding across sensory modalities, including their malleability following alpha-band stimulation.

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13. Mollajani R, Joghataei MT, Tehrani-Doost M, Khosrowabadi R. Effect of Bumetanide on Neural Correlates of Emotion Recognition in Youth With Autism Spectrum Disorder: An Event-related Potential Study. Basic Clin Neurosci;2025 (Jan-Feb);16(1):65-80.

INTRODUCTION: Individuals with autism spectrum disorder (ASD) have impairments in emotion processing, including recognizing facial emotions. There is a significant need for medication to improve core symptoms of ASD. Bumetanide is one of the most recently used drugs in some studies of ASD to address this need. This study aimed to evaluate the effect of bumetanide on the brain response of youth with ASD while they were recognizing facial emotions using the event-related potentials (ERPs). METHODS: Fifteen children with ASD aged between 7 to 16 years were evaluated using the childhood autism rating scale (CARS), schedule for affective disorders and schizophrenia for school-age children-present and lifetime version, social responsiveness scale, Wechsler intelligence scale for children-revised form, and standard blood tests. The electrical brain response was measured while they were doing a facial emotion recognition task (FERT). After 3 months of treatment, they were assessed again regarding core symptoms and ERPs. RESULTS: The behavioral problems of the participants decreased significantly based on CARS. With regard to behavioral performance on FERT, the accuracy of detecting emotions increased, and reaction time decreased significantly. The amplitude of N170, EPN, and N250 increased, and latency for N170 and N250 decreased significantly in some electrodes. There were no serious side effects. CONCLUSION: In this study, bumetanide improved behavioral symptoms and recognition of facial emotions. Also, brain function was improved based on the ERP components. So, bumetanide can be used safely in children and adolescents with ASD to improve the main symptoms of the disorder.

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14. Peng Q, Dong Y, Jin J, Ao H, Zhang C, Ma Y. The effectiveness of mindfulness-based interventions for children with autism and their parents: a systematic review and meta-analysis. Front Psychol;2025;16:1526001.

OBJECTIVE: This study aims to systematically evaluate the efficacy of mindfulness-based interventions (MBIs) for children diagnosed with autism spectrum disorder (ASD) and their parents. METHODS: A comprehensive search of PubMed, Embase, Cochrane Library, Web of Science, PsycINFO and ERIC was conducted to identify randomized controlled trials (RCTs) published up to December 31, 2024, that assessed the effects of MBIs on children with ASD and their parents. Two independent reviewers screened studies, extracted relevant data, and assessed the quality of the included literature. A meta-analysis was performed using standardized mean differences (SMDs) and 95% confidence intervals (CIs). RESULTS: A total of 12 RCTs involving 643 participants were included. The meta-analysis showed that MBIs significantly reduced parental stress [SMD = -0.69, 95% CI (-1.36, -0.02), p = 0.04], improved parental mindfulness awareness [SMD = 3.08, 95% CI (0.26, 5.90), p = 0.03], and alleviated anxiety, depression, and stress in parents [SMD = -0.57, 95% CI (-1.09, -0.06), p = 0.03]. Additionally, MBIs significantly improved social responsiveness in children with autism [SMD = -0.35, 95% CI (-0.66, -0.04), p = 0.03]. However, no statistically significant differences were observed between the MBI and control groups in reducing problematic behaviors in children [SMD = -0.45, 95% CI (-0.90, 0.00), p = 0.05], improving children’s emotional and behavioral difficulties [SMD = -0.23, 95% CI (-0.66, 0.19), p = 0.28], or enhancing parental psychological resilience [SMD = 0.85, 95% CI (-1.96, 3.66), p = 0.55]. CONCLUSION: This meta-analysis demonstrates that MBIs significantly reduce parental stress, alleviate anxiety, depression, and stress, and enhance mindfulness awareness in parents of children with autism. Furthermore, MBIs were found to significantly improve social responsiveness in children with autism. However, their effects on children’s emotional and behavioral challenges and parental psychological resilience remain inconclusive. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/view/CRD42023424059.

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15. Sabetfakhri NP, Guter SJ, Jr., Reyes Pinzon SH, Ajilore OA, Cook EH, Najjar F. de novo KDM5B Mutation in a Patient with Autism Spectrum Disorder and Obsessive-Compulsive Disorder: Case Report. J Mood Anxiety Disord;2025 (Jun);10:100114.

BACKGROUND: The KDM5B gene encodes a lysine histone demethylase that is essential in epigenetic regulation and human development. Homozygous and compound heterozygous variants of KDM5B have been associated with a distinct syndrome characterized by developmental delay, intellectual disability, and dysmorphic features. However, phenotypic presentations associated with heterozygous (HET) protein-truncating variants (PTVs) have been inconsistent, ranging from moderate to severe autism spectrum disorder (ASD) and intellectual disability (ID), to some individuals being unaffected with ASD or ID. CASE PRESENTATION: We report a de novo HET PTV (NM_006618.5 c.1708 C>T; p.R570X) in KDM5B in an 18-year-old Caucasian female patient, who presented with ASD, and then developed severe obsessive-compulsive disorder (OCD) and leading to depression and emotion dysregulation. CONCLUSIONS: This case suggests a potential role for HET PTVs in the KDM5B gene in OCD pathogenesis and marks the first report of co-occurring ASD and OCD associated with a KDM5B variant.

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16. Shekhar H, Aphale DP, Dokania S. Corrigendum to « Constructive appraisal of « retrospective case control study of microcurrent therapy in autism spectrum disorder: Behavioral outcomes and dose-response analysis ». Explore (NY);2025 (Jul 7);21(5):103213.

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17. Wall CA, Smith K, Shic F, Kelleher B, Hogan A, Will EA, Roberts JE. Heart rate defined sustained attention relates to visual attention in autism and fragile X syndrome. Sci Rep;2025 (Jul 14);15(1):25389.

Social attention, including shared attention and social orienting, is essential for positive social interactions. Although early visual social attention is often quantified using eye tracking, these indices may not consistently reflect cognitive engagement. Heart rate defined sustained attention (HRDSA) is a physiological measure that can index cognitive engagement alongside visual attention, leading to more comprehensive assessments of attentional processes that are particularly important in young, neurodiverse children with high support needs, including those with autism and fragile X syndrome (FXS). The present study examined visual and heart-defined measures of social attention to the Selective Social Attention task, a video-based assay of social attention, in children with autism, FXS, and neurotypical development. Linear mixed models examined group and condition effects in multiple cardiac indices and overall looking at the scene. Findings suggest that, overall, children across all groups engaged similarly across the experiment in most dimensions of HRDSA, and consistent with previous work, autistic children spent less time visually attending to the scene than either other group. HRDSA was positively associated with visual social attention. Combining physiological and visual attention measures may elucidate the complex nature of social attention and be especially valuable for neurodiverse children when typical assessments are inaccessible.

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