1. Bollengier M, Diaz Berenguer AA, Sahli H. Dynamic multi-hypergraph structure learning for disease diagnosis on multimodal data. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-5.

With its superior capability in complex data modeling, hypergraph computation is a powerful tool for many applications. In this work, we propose using hypergraph computation for disease prediction. Hypergraphs allow for the representation of higher-order relations, called hyperedges, spanning possibly more than two nodes to capture complex correlations within multimodal medical data and patients’ characteristics. We propose a dynamic bi-clustering approach to learn a multi-hypergraph structure based on node embedding to model high-order multimodal patient interaction. We have conducted experiments on benchmark real-world datasets for Alzheimer’s Disease and Autism Spectrum Disorder prediction. Experimental results demonstrate that the proposed Hypergraph Neural Network method outperforms state-of-the-art methods.

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2. Cartwright L, Scerif G, Oliver C, Beggs A, Stockton J, Wilde L, Crawford H. Genetic determinants of longitudinal behavioural trajectories in rare conditions: the case of fragile X syndrome. Behav Brain Res;2025 (Mar 5):115527.

Despite being a monogenic condition, individual variability in the phenotypic profile of fragile X syndrome (FXS) is substantial, with behavioural outcomes differing in severity and frequency. Existing studies have revealed that common variation in 5-HTTLPR (serotonin) and COMT (dopamine) single nucleotide polymorphisms (SNPs) is associated with behavioural variation in FXS when measured cross-sectionally. However, the associations between SNPs and longitudinal behavioural trajectories in FXS remain unknown. This study explored relationships between three SNPs, selected a priori (5-HTTLPR, COMT and monoamine oxidase A (MAOA)), and trajectories of clinically relevant behaviours in 42 males with FXS. Autistic characteristics, property destruction, aggression, stereotyped behaviour, self-injury, repetitive behaviour, and mood/interest and pleasure were measured at two time points across three years via a series of standardised informant questionnaires. DNA was extracted from saliva samples and a combination of PCR and TaqMan genotyping was performed for genetic confirmation of FXS, and COMT, 5-HTTLPR and MAOA analyses. Results revealed that males with FXS with AA COMT genotype were less likely to display persistent stereotyped behaviour compared to AG or GG genotypes. Participants with the S/S 5-HTTLPR genotype displayed a steeper decline in repetitive and stereotyped behaviours compared to the L/S or L/L genotypes. Participants with the three-repeat MAOA genotype demonstrated a steeper decline in communication skills over three years compared to those with four repeats. This study documents the association between common genetic variation and behavioural trajectories in males with FXS. Results suggest specific SNPs play an important role in longitudinal behavioural patterns in FXS. This work may facilitate an understanding of individual trajectories for people with FXS, and, therefore, support future tailored interventions.

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3. Cerci Akcay H, Safci D, Kasimoglu Y, Aren G, Guloğlu R, Coskun M, Tanir Y, Oren MM, Erdem AP. Effects of Covid-19 pandemic on nutritional habits, lifestyle changes and dental trauma frequency of children with autism: a cross-sectional study. BMC Oral Health;2025 (Mar 4);25(1):331.

BACKGROUND: The Covid-19 pandemic has disrupted daily routines and lifestyle habits, affecting the psychological well-being and dietary habits of individuals, especially children with autism spectrum disorder (ASD). This study aims to evaluate the susceptibility of children with ASD to changes in nutritional habits, lifestyle, and dental trauma during the pandemic related with oral health and compare them with healthy children. METHODS: This study, conducted at Istanbul University, involves children aged 3-14 diagnosed with ASD at the Department of Child and Adolescent Psychiatry, and healthy children who visited the Department of Pedodontics. Parents provide written informed consent, and a questionnaire covering various aspects of their child’s health and habits is used. Intraoral examinations are conducted for both groups, recording any trauma history or signs, and evaluating possible causes and risk factors. All data were obtained and analysed by SPSS software program version 23.0 with descriptive statistics calculation, Chi square test, Kolmogorov Smirnov, the Mann-Whitney U test, t test and McNemar test was used with p value fixed at 0.05. RESULTS: The results show significant differences between children with ASD and the control group in terms of dental health. Children with ASD had lower dmft and DMFT indices, indicating better dental health (p = 0.005). However, the frequency of dental trauma was similar between the groups (p = 0.685). Additionally, the control group exhibited more significant changes in dietary habits during the pandemic, with a higher tendency for snacking throughout the day (p = 0.027). During lockdowns, parents of children with ASD were statistically more likely to provide junk food when their child was irritable (p < 0.001). Changes in physical activity levels also differed, with a more pronounced decrease in the control group (p < 0.001). Furthermore, children with ASD experienced a statistically significant higher rate of disruption in daily routines and inability to participate in social activities and courses (p < 0,001). CONCLUSION: This study sheds light on the unique challenges faced by children with ASD, particularly in terms of dental health and related behaviors. It underscores the importance of interventions to ensure optimal oral health outcomes for this population, especially during periods of disruption like the Covid-19 pandemic.

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4. Chen X, Tao J, Zhang Y, Xu Q, Dong C. Relationship between caregiver burden and family resilience among Chinese parents of children with autism spectrum disorder: The mediating role of social support and positive cognition. J Pediatr Nurs;2025 (Mar 5);82:57-64.

PURPOSE: This study was designed to assess the impact of caregiver burden on family resilience and explore the potential mediating role of social support and positive cognition in this association among Chinese families of children with autism spectrum disorder (ASD). DESIGN AND METHODS: A total of 254 parents of children with ASD were recruited using convenience sampling from five ASD rehabilitation institutions in Wenzhou and Ningbo, Zhejiang Province from June to August 2021. The Zarit Burden Scale, Social Support Rate Scale, Illness Cognition Questionnaire-Parent Version, and Family Resilience Assessment Scale were employed to investigate the mediating mechanisms of social support and illness cognition between caregiver burden and family resilience. Structural equation models were conducted to evaluate the relationships among the variables. RESULTS: This study revealed that caregiver burden negatively associated with family resilience, with social support partially mediating this relationship (accounting for 17.86 % of the total effect), and both factors being indirectly linked through social support and positive cognition (accounting for 3.76 % of the total effect). CONCLUSIONS: The findings emphasize the need for interventions aimed at enhancing social support and positive cognition to alleviate the negative effects of caregiver burden on family resilience among parents of children with ASD.

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5. Chen YF, Tsao CY, Chen YT, Chang HC, Li WY, Chiang JL, Chen CF, Chen CH, Gau SS, Lee KY, Lee LJ, Wang YC. Altered odor perception in Dlgap2 mutant mice, a mouse model of autism spectrum disorder. Behav Brain Res;2025 (Mar 5);480:115365.

Olfactory dysfunction has been observed in patients with Autism Spectrum Disorder (ASD). A microdeletion at the 8p23 terminal regions of chromosome 8p23 was identified in a Taiwanese patient with ASD, suggesting a potential association with mutations in the DLGAP2 gene. DLGAP2 is expressed in the olfactory bulb in rodents. The current study investigated olfactory phenotypes of Dlgap2 mutant mice. The results indicated that odor detection capabilities were comparable between wild-type (WT) and Dlgap2 mutant mice. However, homozygous mutant (Homo) mice showed less interest in sniffing odors of banana and almond but greater sniffing activity in response to bedding from unfamiliar cages. Notably, exposure to banana odor elicited significant c-fos expression in most olfaction-related brain regions of WT mice, while Homo mice did not show much increase in c-fos levels in major olfactory areas, which may correlate with their diminished sniffing behavior. Bedding stimuli induced pronounced c-fos expression in WT brains and some olfaction-related regions, including the olfactory bulb, amygdala, hypothalamus, and medial prefrontal cortex, in Homo mice. These mutants may still process olfactory signals from the bedding through a relatively narrow channel, which might elicit their interest, leading to increased sniffing behaviors that may compensate for their olfactory deficits. The DLGAP2 protein was absent in the olfactory bulb of Homo mice, and the levels of PSD95 and CaMKIIβ were also affected, indicating alterations in synaptic transmission and signaling within the olfactory system. This study evaluated olfactory perception in a mouse model of ASD, which may advance diagnostic and therapeutic strategies.

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6. Choi-Tucci E, Sideris J, Holland C, Baranek GT, Watson LR. Measuring Intentional Communication in Infants at Elevated Likelihood of Autism: Validity, Reliability, and Responsiveness of a Novel Coding Scale. J Speech Lang Hear Res;2025 (Mar 5);68(3):1151-1160.

PURPOSE: Intentional communication acts, or purposefully directed vocalizations and gestures, are particularly difficult for infants at elevated likelihood for eventual diagnosis of autism. The ability to measure and track intentional communication in infancy thus has the potential to aid early identification and intervention efforts. This study assesses the validity of a novel measure of intentional communication intended for use within semistructured caregiver-infant interactions. METHOD: The Intentional Communication Coding Scale (IC Coding Scale) captures infants’ Vocalizations, Gestures, and Combined (vocalizations paired with gestures) acts. Using data from 36 infants at elevated likelihood for autism, we tested the convergent and discriminant validity of the IC Coding Scale with established language measures using Spearman’s rho. We tested interrater reliability using intraclass correlation coefficient (ICC) calculations. Finally, we tested responsiveness (i.e., sensitivity to change) using Wilcoxon signed-ranks tests and Spearman’s rho. RESULTS: Our initial psychometric tests suggested adequate levels of convergent and discriminant validity. ICCs ranged from .77 to .92, while confidence intervals were wide, suggesting that Gestures and Combined acts were coded more variably than Vocalizations were among raters. Tests of the scale’s responsiveness suggested adequate sensitivity to change across a 12-week period. CONCLUSIONS: This study is an important first step toward validating the IC Coding Scale for use in measuring and tracking intentional communication behaviors in infants at elevated likelihood for autism within more naturalistic, semistructured activities. Additional studies are needed to disentangle the effects of intervention from maturation and to examine types of intentional communication acts in more detail.

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7. Columna L, McNamarra S, Myers BA, Dosa N, Barry A, Roth K, Ashby CE, Ku B, Davis T, Borowski N, Hooper LM. Assessing parental stress and self-efficacy: A multisite feasibility study of parent-mediated physical activity interventions for children with developmental disabilities. Health Promot Perspect;2024;14(4):350-359.

BACKGROUND: Children with developmental disabilities often face barriers to engaging in physical activity (PA), impacting their health and quality of life. Parent-mediated interventions (PMIs) have shown promise to reduce these barriers, but little research explores online PMIs for parents of children with developmental disabilities. Thus, the purpose of this study was to assess the feasibility and impact of a multi-site collaborative online parent-mediated PA intervention on stress levels and self-efficacy among parents of children with developmental disabilities over a 12-week period. METHODS: Participants (n=55) were parents of children with developmental disabilities, randomly assigned to intervention (n=27) or control (n=28) groups. RESULTS: Recruitment rate was 58%, with an 80% retention rate. The feasibility of online delivery was demonstrated, allowing participation from various locations. An analyses of covariance (ANCOVA) with parental sex and education level as covariates revealed no significant interaction effect between group and time for parenting self-efficacy score (PSE), F(1, 104)=0.118, P=0.732, or PSI, F(1, 104)=0.196, P=0.659. The mean PSI difference (pre-post) was -0.38 (CI: -10.57 to 9.80) for the experimental group and 2.64 (CI: -9.61 to 14.91) for the control group, while the mean PSE difference was -4.41 (CI: -29.33 to 20.49) and 4.75 (CI: -23.22 to 32.73), respectively. CONCLUSION: Future research should explore the integration of hybrid PMIs in conjunction with qualitative measures to facilitate a deeper understanding of the multifaceted factors influencing parental engagement in PA interventions for children with developmental disabilities.

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8. Di Leva F, Arnoldi M, Santarelli S, Massonot M, Lemée MV, Bon C, Pellegrini M, Castellini ME, Zarantonello G, Messina A, Bozzi Y, Bernier R, Zucchelli S, Casarosa S, Dassi E, Ronzitti G, Golzio C, Morandell J, Gustincich S, Espinoza S, Biagioli M. SINEUP RNA rescues molecular phenotypes associated with CHD8 suppression in autism spectrum disorder model systems. Mol Ther;2025 (Mar 5);33(3):1180-1196.

Loss-of-function mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are strongly associated with autism spectrum disorders (ASDs). Indeed, the reduction of CHD8 causes transcriptional, epigenetic, and cellular phenotypic changes correlated to disease, which can be monitored in assessing new therapeutic approaches. SINEUPs are a functional class of natural and synthetic antisense long non-coding RNAs able to stimulate the translation of sense target mRNA, with no effect on transcription. Here, we employed synthetic SINEUP-CHD8 targeting the first and third AUG of the CHD8 coding sequence to efficiently stimulate endogenous CHD8 protein production. SINEUP-CHD8 were effective in cells with reduced levels of the target protein and in patient-derived fibroblasts with CHD8 mutations. Functionally, SINEUP-CHD8 were able to revert molecular phenotypes associated with CHD8 suppression, i.e., genome-wide transcriptional dysregulation, and the reduction of H3K36me3 levels. Strikingly, in chd8-morpholino-treated and ENU mutant zebrafish embryos, SINEUP-chd8 injection confirmed the ability of SINEUP RNA to rescue the chd8-suppression-induced macrocephaly phenotype and neuronal hyperproliferation. Thus, SINEUP-CHD8 molecule(s) represent a proof-of-concept toward the development of an RNA-based therapy for neurodevelopmental syndromes with implications for, and beyond ASD, and relevant to genetic disorders caused by protein haploinsufficiency.

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9. Du M, Li T, Xu Y, Fang P, Xu X, Shi P, Liu W, Liu X, Liu S. Camera-based Gait Kinematic Features Analysis and Recognition of Autism Spectrum Disorder. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-4.

The atypical development in children with autism spectrum disorder (ASD) may cause varying degrees of gait deficits, characterized by uncoordinated and peculiar postures. However, these symptoms are often ignored due to their subtlety. This study aimed to quantify the atypical gait pattern in ASD and explore the feasibility of a gait-based method for ASD recognition. Firstly, we collected natural walking videos from 38 ASD children and 30 health control (HC) children, then extracted gait kinematic parameters using a skeleton model, including joint swing angle and amplitude features, to analyze subtle changes among ASD children. Subsequently, the potential correlation of these features with the clinical severity of ASD was analyzed, and several machine learning models were constructed for recognition. The results showed, compared to HC group, ASD group had a significant decrease in step length, speed, leg swing angle and coordination, along with a significant increase in head angle. Moreover, significant correlations were observed between these features and both Autism Behavior Checklist (ABC) and Clancy Autism Behavior Scale scores, except for the coordination, which only exhibited significant correlation with ABC score. For recognition, the Random Forests achieved the best recognition performance with an accuracy of 0.84 and an F1 score of 0.86. Overall, this study reveals the atypical gait pattern of ASD children, and proposes a novel gait-based recognition model for future auxiliary evaluation.

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10. Dumont RL, Rios-Vega L, Barrett A, Sivori TT, Knell E, Njoroge J, Cannady L, Schaaf RC. Culturally Adapting an Occupational Therapy Intervention for Black American Autistic Communities. Am J Occup Ther;2025 (Mar 1);79(2)

IMPORTANCE: Ayres Sensory Integration® is an evidence-based intervention for autistic children, but there is no culturally responsive adaptation to support Black American autistic children and their families. OBJECTIVE: To culturally adapt an occupational therapy intervention for Black American families. DESIGN: Qualitative study involving focus groups and interviews, using researcher triangulation and member-checking surveys for the trustworthiness of findings. SETTING: Zoom focus groups and interviews. PARTICIPANTS: Convenience sampling resulted in 12 participants, including Black American parents and caregivers, cultural experts, and occupational therapy practitioners who provide services to Black American autistic children. OUTCOMES AND MEASURES: Interviews and focus group discussions. RESULTS: Four parents and caregivers, two cultural experts, and six practitioners participated. Five themes emerged regarding barriers and eight for supports in accessing and utilizing occupational therapy services, including cultural humility knowledge and practices by practitioners and strategies for engaging and incorporating families’ culture. CONCLUSIONS AND RELEVANCE: This study demonstrates the process of culturally adapting an occupational therapy intervention according to relevant literature and the insight and expertise of parents and caregivers, cultural experts, and occupational therapy practitioners. Plain-Language Summary: This project identified challenges and supports for Black American families of autistic children regarding access to and engagement in occupational therapy services. We adapted an occupational therapy intervention to address these challenges and to include recommended supports to guide occupational therapy practitioners to be more culturally responsive and collaborative with Black American families of autistic children throughout the therapeutic process. Positionality Statement: The inclusive term Black American is used to engage people from all cultural and ethnic backgrounds who are a part of the Black and African-American community throughout the United States (Rivera-Figueroa et al., 2022). Also, identity-first terminology and the term autistic are used according to autistic adults’ preferences for embracing one’s identity (Taboas et al., 2023). The research team consisted of female occupational therapists (Rachel Dumont, Roseann Schaaf, Lady Rios-Vega, and Taylor Sivori, who self-identified as White, White, Latina, and White, respectively); female and male occupational therapy students (Allison Barrett, Emily Knell, and Joshua Njoroge, who self-identified as Asian, White, and Black and White, respectively); and a male focus group facilitator (Levone Cannady, who self-identified as Black). The principal investigator (PI) for this study, Rachel Dumont, and co-PI, Roseann Schaaf, have 16 yr and more than 30 yr of research experience, respectively. The co-PI has extensive experience with occupational therapy using Ayres Sensory Integration and was the director of the Jefferson Autism Center of Excellence. The focus group facilitator had over 8 yr of experience in leading groups and workshops.

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11. Guo Q, Zhu R, Ma Z, He Y, Wang D, Zhang X. Sex differences in the prevalence and clinical correlates of autistic features in patients with chronic schizophrenia: a large scale cross-sectional study. Int J Psychiatry Clin Pract;2025 (Mar 5):1-9.

OBJECTIVE: Sex differences have been suggested in both schizophrenia (SCZ) and autism spectrum disorder (ASD). This study aims to assess the prevalence and clinical correlates of autistic features in male and female patients with chronic SCZ. METHODS: A total of 1690 chronic SCZ patients (M/F: 1122/568) were recruited from ten psychiatric hospitals in China. The Positive and Negative Syndrome Scale Autism Severity Score and the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) were utilised to assess the presence of autistic features and measure cognitive function, respectively. RESULTS: Female SCZ patients had a higher prevalence of autistic features than male SCZ patients. In male patients, those with autistic features exhibited higher illness duration and RBANS scores, but lower years of education. Whereas in female patients, those with autistic features had higher RBANS scores, but lower years of education. Binary logistic regression analysis revealed that years of education, illness duration, visuospatial/constructional abilities, and language were correlated with autistic features in male patients. In female patients, years of education, language, and delayed memory were correlated with the presence of autistic features. CONCLUSIONS: Our findings suggest that sex differences exist in the prevalence and clinical correlates of autistic features in chronic SCZ patients. Sex differences exist in the prevalence and clinical correlates of autistic features in patients with chronic SCZ.Years of education, illness duration, visuospatial/constructional abilities, and language were correlated with autistic features in male chronic SCZ patients.Years of education, language, and delayed memory were correlated with autistic features in female chronic SCZ patients. eng

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12. James D, Lam VT, Jo B, Fung LK. Sex Differences in the Relationship Between Cortical Thickness and Sensory Motor Symptoms in Adults on the Autism Spectrum. Behav Neurol;2025;2025:2951294.

Background: Autism spectrum disorder (ASD) involves alterations in both cortical morphology and sensory processing. These structural and perceptual changes may lie on a continuum with typically developing (TD) individuals. However, investigations on possible links between these two factors are lacking, and it remains to be seen if their relationship differs by sex. We hypothesized that cortical thickness in the postcentral gyrus (a somatosensory processing hub) would correlate with sensory processing symptoms in a combined cohort of autistic and TD individuals. We also hypothesized that these correlations would differ based on sex. Methods: We studied 23 autistic adults and 27 TD adults using magnetic resonance imaging to measure the cortical thickness of the postcentral gyrus and the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R) to measure autism characteristics, with a particular focus on the sensory motor subscale. Results: The left postcentral gyrus (PCG) was found to be thicker in the autism group than in the TD group (d = 0.946, p = 0.003), particularly in autistic males compared to TD males and TD females. The RAADS-R sensory motor subscale and bilateral PCG cortical thickness were positively correlated across both autistic and TD males (Spearman’s rho = 0.481, p = 0.008) but not females. These correlations were specific to the sensory motor subscale, as no correlations were found for RAADS-R total score or any of the other subscales. Conclusions: These results demonstrate sex-specific differences in the relationship between cortical thickness at the PCG and sensory processing in autistic individuals and that these differences exist along a continuum that extends into the TD population. Our findings contribute to furthering our understanding of sex-specific neuroanatomical differences in people on the autism spectrum. The left PCG thickness could be a potential sex-specific biomarker for sensorimotor function that is generally applicable in both neurotypical and autism populations. With further validations, this biomarker could be used to track responses to interventions targeting sensorimotor challenges in people on the autism spectrum.

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13. Kidwell V, Williams A, Sanchez L, Sarma SV. A resting-state fMRI network biomarker for autism spectrum disorder. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-4.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder impacting a person’s social communication skills and behaviors. Due to its a wide range of symptoms and presentations, diagnosis is a subjective process reliant on clinician experience and symptom reports. Our pilot study aims to improve this process using a resting-state fMRI biomarker based on dynamic network modeling. Using matched cohorts (14 healthy, 14 ASD) from the DecNef rsfMRI open dataset we built generative models of the influence between cortical regions of the brain, encapsulated by a value we call the sink index; a network-based biomarker that measures the influence on between brain regions. A high sink index suggests high influence from and minimal influence on other parts of the network over time. Three cortical regions were found to have statistically significant differences between ASD and control patients: the left lateral occipital cortex, right frontal pole, and the left postcentral gyrus. Using these results, a high accuracy (AUC 0.91) classifier was generated that can quantitatively predict ASD status.

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14. La Valle C, Mejia GD, Wilkinson CL, Baumer N. Examining Concurrent Associations Between Gesture Use, Developmental Domains, and Autistic Traits in Toddlers With Down Syndrome. J Speech Lang Hear Res;2025 (Mar 5);68(3):1126-1136.

PURPOSE: Toddlers with Down syndrome (DS) showcase comparable or higher rates of gestures than chronological age- and language-matched toddlers without DS. Little is known about how gesture use in toddlers with DS relates to multiple domains of development, including motor, pragmatics, language, and visual reception (VR) skills. Unexplored is whether gesture use is a good marker of social communication skills in DS or if gesture development might be more reliably a marker of motor, language, pragmatics, or VR skills. This study examined the concurrent association of gesture use on other areas of development and investigated the association of autistic traits with gesture use in toddlers with DS. METHOD: Thirty toddlers with DS (15 females; M = 26.12 months, SD = 6.42 months) completed the Mullen Scales of Early Learning (MSEL) and the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Parents completed the MacArthur-Bates Communicative Development Inventories Words and Gestures form and the Language Use Inventory (LUI; pragmatic language) about their child. RESULTS: Controlling for child chronological age and sex, total gestures was strongly positively associated with the LUI total score (pragmatic language) and MSEL language (receptive, expressive) raw scores, moderately positively associated with motor (fine, gross) raw scores, but not significantly associated with VR raw scores. Higher ADOS social affect (SA) calibrated severity scores was strongly negatively associated with total gestures but not significantly associated with restricted and repetitive behaviors. CONCLUSIONS: Gestures track together with language, pragmatics, and motor skills. Higher ADOS SA calibrated severity scores were associated with fewer gestures in toddlers with DS. Clinicians can consider each child’s developmental profile (e.g., motor, pragmatics, language, social communication skills) to better understand their gesture development. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28169186.

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15. Li W, Ma S, Tian Y. Exploring the Association Between Human Blood Metabolites and Autism Spectrum Disorder Risk: A Bidirectional Mendelian Randomization Study. Health Sci Rep;2025 (Mar);8(3):e70528.

BACKGROUND AND AIMS: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a poorly understood etiology. Recent studies have suggested that metabolic dysregulation might be linked to the development of ASD; however, causal relationships remain unclear. This study aimed to investigate the causal association between these factors using two-sample Mendelian randomization (TSMR). METHODS: We conducted a TSMR analysis to assess the relationship between blood metabolites and ASD using summarized GWAS data. The metabolite dataset from the Canadian Longitudinal Study of Aging included 1091 metabolites and 309 ratios from 7824 European individuals. The ASD data from the Psychiatric Genomics Consortium comprised 18,381 ASD cases and 27,969 controls. Blood metabolites were set as exposures with ASD as the outcome. We primarily used the inverse-variance weighted method, supplemented by MR-Egger, weighted median, simple mode, and weighted mode methods. We also conducted sensitivity analyses to confirm robustness. Replication, confounding, and reserve analyses were performed to verify causation. Additionally, metabolic pathway and network pharmacology analyses were conducted to explore potential mechanisms. RESULTS: We identified 55 known metabolites including 13 metabolite ratios and 10 unknown blood metabolites associated with ASD. Additionally, our analysis identified 13 potential metabolic pathways, among which tryptophan metabolism was the most notable (p = 0.0388). Gene Ontology functional analysis and Kyoto Encyclopedia of Genes and Genomes analysis highlighted crucial pathways, such as cellular glucuronidation, glucuronosyltransferase activity, and bile secretion, and the significance of the apical part of the cell. CONCLUSIONS: Our findings indicate that the dodecenedioate, methionine sulfone, cysteine to alanine ratio and proline to glutamate ratio have an impact on ASD. These results enhance our understanding of the metabolic pathways involved in ASD and could lead to new avenues for intervention and prevention. Further research is needed to explore the mechanisms underlying these associations and confirm these findings in different populations.

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16. Liu H, Li C, Qin R, Li L, Yuan X, Chen B, Chen L, Li T, Wang X. Effective connectivity alterations of the triple network model in the co-occurrence of autism spectrum disorder and attention deficit hyperactivity disorder. Cereb Cortex;2025 (Feb 5);35(2)

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are both highly prevalent disorders and frequently co-occur. The underlying neurological mechanisms of the co-occurrence of ASD and ADHD (ASD + ADHD) remain unknown. This study focuses on investigating the effective connectivity (EC) alterations within the triple network model in individuals with ASD + ADHD. Resting-state functional magnetic resonance imaging data were obtained from 44 individuals with ASD + ADHD, 60 individuals with ASD without ADHD (ASD-only), 35 individuals with ADHD without ASD (ADHD-only), and 81 healthy controls (HC) from the Autism Brain Imaging Data Exchange II and the ADHD-200 Sample database. Spectral dynamic causal modeling was employed to explore the EC alterations within and between the default mode network, salience network, and central executive network. Our analysis showed that compared to HC, ASD + ADHD, ASD-only, and ADHD-only exhibited both shared and disorder-specific EC alterations within the triple-network model. These results have potential clinical implications for identifying ASD + ADHD, facilitating diagnostic accuracy, guiding targeted treatment approaches, and informing etiological studies.

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17. Liu Y, Sun Y, Chen A, Chen J, Zhu T, Wang S, Qiao W, Zhou D, Zhang X, Chen S, Shi Y, Yang Y, Wang J, Wu L, Fan L. Involvement of disulfidptosis in the pathophysiology of autism spectrum disorder. Life Sci;2025 (Mar 5):123531.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder, with oxidative stress recognized as a key pathogenic mechanisms. Oxidative stress disrupts intracellular dynamic- thiol/disulfide homeostasis (DTDH), potentially leading to disulfidptosis, a newly identified cell death mechanism. While studies suggest a link between DTDH and ASD, direct evidence implicating disulfidptosis in ASD pathogenesis remains limited. In this study, Mendelian randomization analysis revealed a significant causal association between disulfidptosis-related sulfhydryl oxidase 1 and 2 and ASD (OR1 = 0.883, OR2 = 0.924, p < 0.05). A positive correlation between protein disulfide-isomerase and cognitive performance (OR = 1.021, p < 0.01) further supported the role of disulfidptosis in ASD. Seven disulfidptosis-related genes (TIMP1, STAT3, VWA1, ADA, IL5, PF4, and TXNDC12) were identified and linked to immune cell alterations. A TF-miRNA-mRNA regulatory network and a predictive model (AUC = 0.759) were constructed and external validation datasets (AUC = 0.811). Immune infiltration analysis demonstrated altered expression of naive B cells and three other types of immune cells in ASD children. Animal experiments further validated the differential expression of key genes, highlighting their relevance to ASD pathogenesis. Animal experiments found that BTBR mice exhibit glucose starvation and NADPH depletion, with the specific indicator Slc7a11 being highly expressed. Silencing Slc7a11 can improve core ASD impairments in BTBR mice. CONCLUSION: This study establishes the first mechanistic link between disulfidptosis and ASD, identifies seven key genes and their regulatory network, and develops a predictive model with clinical utility. Animal experiments further confirmed the strong association between disulfidpotosis and ASD phenotypes. These findings offer novel therapeutic targets for modulating oxidative stress in ASD.

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18. Long D, Yang T, Chen J, Zhang J, Dai Y, Chen L, Jia F, Wu L, Hao Y, Li L, Ke X, Yi M, Hong Q, Chen J, Fang S, Wang Y, Wang Q, Jin C, Li T. Motor developmental delay in preschoolers with autism spectrum disorders in China and its association with core symptoms and maternal risk factors: a multi-center survey. Child Adolesc Psychiatry Ment Health;2025 (Mar 5);19(1):18.

BACKGROUND: Motor disturbance, as a related symptom of autism spectrum disorders (ASD), has not received the attention it deserves. We aimed to investigate the different degrees of motor developmental delay and influencing factors in Chinese preschool children with ASD, in order to enhance people’s awareness of motor developmental delay in ASD children. METHODS: We recruited 1,256 ASD children aged 2-6 years from the China Multi-Center Preschool Autism Project (CMPAP). We investigated the overall status of neurodevelopment in preschool children with ASD through the Revised Children Neuropsychological and Behavior Scale (CNBS-R2016) and the Gesell Developmental Scale (GDS). The multivariate ordered logistic regression model was used to analyze the relationship between different degrees of motor developmental delay and demographic, core symptoms of ASD, and maternal risk factors, which were evaluated using the questionnaires, the Childhood Autism Rating Scale (CARS) and the Social Responsiveness Scale-Second Edition (SRS-2). RESULTS: The proportions of delayed development in various neurodevelopmental domains was significantly imbalanced in preschool children with ASD. The proportions of gross and fine motor developmental delay were as high as 39.6% and 68.4% respectively. ASD children in different age subgroups all exhibited gross and fine motor developmental delay. The CARS and SRS-2 total scores of ASD children with mild, moderate-severe gross or fine motor developmental delay were significantly higher than those with normal motor skills development (P < 0.05). ASD children aged ≥ 5 years, or higher CARS and SRS-2 total scores, or gestational age in the 28-36(+ 6) weeks were more likely to suffer from gross motor developmental delay (OR values were 5.504, 1.083, 1.846 respectively) and fine motor developmental delay (OR values were 2.216, 1.074, 1.011, 1.661 respectively). CONCLUSION: Gross and fine motor developmental delay were difficulties that most preschool children with ASD may face, and ASD children with motor developmental delay had greater deficits in social skills. Therefore, it is necessary to continuously monitor the gross and fine motor development progress of children with ASD for facilitating early identification and individualized intervention.

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19. Loomes R, Chivers K, Georgeaux-Healy C, Mandy W, Jewell T. Understanding the Autistic Experience of Restrictive Eating Disorders-A Systematic Review and Qualitative-Synthesis. Eur Eat Disord Rev;2025 (Mar 5)

OBJECTIVE: To synthesise qualitative findings on the autistic experience of restrictive eating disorders in order to identify common themes and use this to inform future research on the development of more effective care. METHOD: This systematic review was pre-registered on PROSPERO (CRD42023434116) and followed PRISMA guidelines. CINAHL, PsycINFO, Medline, Embase, Web of Science and Global Health databases were searched. Studies were included if they contained qualitative data detailing the autistic experience of restrictive eating disorders from autistic people, carers or healthcare professionals. The Critical Appraisal Skills Programme was used to assess quality of studies. Recurring themes were identified via thematic synthesis. RESULTS: Nine studies met the inclusion criteria, all focused on anorexia nervosa. Four themes arose from the analysis: (1) the relationship between autism and restrictive eating; (2) the journey to self-understanding; (3) experience of eating disorder services; (4) suggested treatment adaptations. CONCLUSION: Findings suggest a broad range of mechanisms underlying the development and perpetuation of anorexia nervosa that are related to autism and are not consistently acknowledged and addressed in current care provision. This emphasises the need for more research into developing adapted or novel interventions for autistic people with eating disorders, as well as training programmes for clinicians.

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20. McGonigle E, VanDam M, Wilkinson C, Johnson KT. Benchmarking Automatic Speech Recognition Technology for Natural Language Samples of Children With and Without Developmental Delays. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-5.

Natural language sampling (NLS) offers rich insights into real-world speech and language usage across diverse groups; yet, human transcription is time-consuming and costly. Automatic speech recognition (ASR) technology has the potential to revolutionize NLS research. However, its performance in clinical-research settings with young children and those with developmental delays remains unknown. This study evaluates the OpenAI Whisper ASR model on n=34 NLS sessions of toddlers with and without language delays. Manual comparison of ASR to human transcriptions of children with Down Syndrome (DS; n=19; 2-5 years old) and typically-developing children (TD; n=15; 2-3 years old) revealed ASR accurately captured 50% of words spoken by TD children but only 14% for those with DS. About 20% of words were missed in both groups, and 21% (TD) and 6% (DS) of words were replaced. ASR also struggled with developmentally informative sounds, such as non-speech vocalizations, missing almost 50% in the DS data and misinterpreting most of the rest. While ASR shows potential in reducing transcription time, its limitations underscore the need for human-in-the-loop clinical machine learning systems, especially for underrepresented groups.

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21. Miranda JM, Browne RAV, da Silva WQA, Rodrigues Dos Santos JP, Campbell CSG, Ramos IA. Effects of a Session of Exergames and Traditional Games on Inhibitory Control in Children With Autism Spectrum Disorder: Randomized Controlled Crossover Trial. JMIR Serious Games;2025 (Mar 5);13:e65562.

BACKGROUND: Autism spectrum disorder (ASD) is characterized by deficits in executive functions, such as inhibitory control, which affect behavior and social adaptation. Although physical activity-based interventions, such as exergames, have shown potential to improve these functions, their comparative effects with active traditional games remain underexplored, particularly regarding inhibitory control in children with ASD. OBJECTIVE: We aim to analyze the effects of a session of exergames and active traditional games on inhibitory control in children with ASD. METHODS: This randomized controlled crossover trial included 9 male children with ASD (mean age 8.6, SD 1.4 y). Participants completed three 20-minute experimental sessions in random order, with a minimum interval of 48 hours: (1) active traditional games, (2) exergames using Just Dance 2022, and (3) a control session with manual painting activities. Inhibitory control was assessed 5 minutes postsession using a modified flanker task in the E-Prime (version 3.0; Psychological Software Tools Inc) program, recording reaction time (RT) and accuracy in congruent and incongruent phases. Repeated measures ANOVA was used to compare RT and accuracy between experimental and control conditions. Data are presented as means and 95% CIs. RESULTS: There was a statistically significant effect of condition on RT in the incongruent phase (P=.02). RT in the exergame session (849 ms, 95% CI 642 to 1057) was lower compared to the traditional games (938 ms, 95% CI 684 to 1191; P=.02) and control (969 ms, 95% CI 742, 1196 to P=.01) sessions. No significant differences were observed in RT during the congruent phase or in accuracy across either phase. CONCLUSIONS: A 20-minute session of exergame improved inhibitory control performance in children with ASD compared to active traditional games and painting activities.

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22. Namgung JY, Mun J, Park YJ, Kim J, Park BY. Investigation of sex-related functional connectivity alterations in autism using class imbalance mitigation approach. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-4.

Autism spectrum disorder is primarily diagnosed in males, leading to the lack of understanding of brain disorganization in female individuals with autism. To fill the gap, we applied a Gaussian mixture model-based oversampling technique to the functional connectivity data to adjust for the sex imbalance in autism. Leveraging a dimensionality reduction technique, we generated a low-dimensional principal component (i.e., gradient) and assessed its between-group differences between the sexes. We observed significant sex-related differences in sensorimotor, attention, and default mode networks, which were associated with higher-order cognitive control processes. Transcriptomic association analysis provided a potential biological underpinning, specifying gene enrichment in the cortex, thalamus, and striatum. Finally, symptom severity prediction analysis suggested that the functional gradient was only associated with symptoms in female individuals with autism.

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23. Narula Khanna H, Roy S, Shaikh A, Chhabra R, Uddin A. Impact of probiotic supplements on behavioural and gastrointestinal symptoms in children with autism spectrum disorder: A randomised controlled trial. BMJ Paediatr Open;2025 (Mar 4);9(1)

OBJECTIVE: To investigate whether probiotic supplementation can improve behavioural and gastrointestinal (GI) symptoms in children with autism spectrum disorder (ASD) aged 2-9 years and further explore the correlation between these symptoms. DESIGN: Single-blinded, randomised, placebo-controlled study. SETTING: Five developmental paediatric outpatient clinics of ‘Continua Kids’. PATIENTS: Children aged 2-9 years diagnosed with ASD along with their caregivers. INTERVENTIONS: Probiotic or placebo sachet reconstituted in 50 mL of lukewarm milk/water, taken two times per day for 3 months. MAIN OUTCOME MEASURES: Change in behavioural (measured by Social Responsiveness Scale-2 (SRS-2) and Aberrant Behaviour Checklist-2 (ABC-2) tools) and GI (measured by GI Severity Index (GSI) score) symptoms after receiving intervention for 3 months. RESULTS: A total of 180 children with ASD were enrolled in the study (probiotic group: 90 and placebo group: 90). All children completed the study. The probiotic group showed a significant reduction in behavioural symptom severity as measured by the SRS-2 tool (47.77% vs 23.33%; p=0.000) compared with the placebo. Probiotic-treated children demonstrated significant reductions in severe symptoms, including social withdrawal/lethargy (40%), stereotypic behaviour (37.77%), hyperactivity (34.44%) and inappropriate speech (32.22%) post-intervention (p=0.000). They also had marked improvements in constipation (p=0.003) and diarrhoea (p=0.043) compared with the placebo group. Both groups exhibited a statistically significant correlation between behavioural and GI symptoms. CONCLUSIONS: Probiotic supplementation improved behavioural and GI symptoms in children with ASD with no adverse effects. Both symptoms were significantly correlated. However, these results need to be validated in a larger sample size. TRIAL REGISTRATION NUMBER: CTRI/2021/11/038213.

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24. Nelson A, Somerville P, Patel S, Matta J. The Etiology of Autism Spectrum Disorder and Gender Dysphoria. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-4.

This paper investigates the genetic correlations between Autism Spectrum Disorder (ASD) and Gender Dysphoria (GD) using network science techniques applied to data from the National Institute of Health’s All of Us research program. Despite extensive research on the genetic etiology of ASD and the phenotypic overlaps between ASD and GD, a genetic component linking the two has not been explored thoroughly. Our study addresses this gap by integrating phenotypic data and genetic variations, specifically single nucleotide polymorphisms (SNPs), to construct a network graph that reveals potential genetic intersections between these conditions. We identify a single gene linking ASD and GD, indicating a potential genetic overlap. This finding is significant as the gene has been associated with several psychiatric conditions, including ASD.Clinical relevance-The study’s methodology extends existing research by combining phenotypic and genetic data to analyze the comorbidity of two different conditions. Our results not only provide insights into the genetic correlations between ASD and GD but also demonstrate the utility of network science in medical research. The approach used here could be generalized to other conditions, offering a new way to understand genetic relationships in neurodevelopmental and psychiatric disorders.

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25. Paulete R, Sousa D, Agostinho D, Sequeira J, Monteiro MJ, Castelo-Branco M, Simoes M. Physiological Synchrony Analysis in a Multi-Person Setting: Unveiling Connections in Autism Family Therapy. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-4.

Interpersonal physiological synchrony (PS) is a process that emerges when the physiological responses of two or more individuals show signs of co-regulation and synchronization. PS shows promising relationships with social behavior, emerging as a potential therapeutic target for populations facing social limitations. Here we propose a case study where we investigate PS in a family with an individual in the autism spectrum (AS) while they undergo a narrative family therapy session. Electrodermal activity was measured simultaneously in all family members and a windowed correlation algorithm was used to extract the level of interpersonal synchronization for each dyad throughout the session. Time windows were categorized as « difficulties » or « resources » based on the therapy session content at that time. Synchronization values compared between those two classes for each dyad showed synchronization levels significantly different between classes for two dyads, which relates to the neuropsychological assessment of the elements of those dyads. Results show a promising prospect for the multi-person PS assessment, reiterating the need to uncover the processes that give rise to physiological linkage.

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26. Pelizza L, Federico A, Leuci E, Quattrone E, Palmisano D, Pupo S, Paulillo G, Pellegrini C, Pellegrini P, Menchetti M. What autism features in first episode psychosis? Results from a 2-year follow-up study. Eur Arch Psychiatry Clin Neurosci;2025 (Mar 5)

The PANSS Autism Severity Score (PAUSS) is a popular measure of autistic features in First Episode Psychosis (FEP) samples. However, evidence on its longitudinal stability, course and treatment response is poor. Therefore, the main aim of this research was to compare clinical outcomes between FEP individuals with or without « autistic features » enrolled within an « Early Intervention in Psychosis » (EIP) service across 2 years of follow-up, as well as any significant association with EIP treatment components. FEP subjects completed the Positive And Negative Syndrome Scale (PANSS), the Global Assessment of Functioning (GAF), and the Health of the Nation Outcome Scale (HoNOS) at entry and across the follow-up. Statistical tests included Kaplan-Meyer survival analysis, mixed-design ANOVA, and multiple linear logistic regression analysis. 301 FEP subjects were enrolled (85 [28.0%] scored above the PAUSS cut-off score). Across the follow-up, the PAUSS + subgroup showed lower incidence rates of both symptomatic and functional remission. No PAUSS long-term stability was observed, but a statistically significant reduction in its values. This longitudinal change was mainly predicted by the total number of case management sessions offered within the EIP program. Our results suggest that the PAUSS could not represent a valid instrument to assess « trait-like » autistic features in FEP subjects. On contrary, it seems to capture a FEP subgroup characterized by higher severity levels in psychopathology and poorer outcomes and prognosis.

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27. Reetzke R, Landa R. Effects of an Inclusive Group-Based Naturalistic Developmental Behavioral Intervention on Active Engagement in Young Autistic Children: A Preliminary Study. J Speech Lang Hear Res;2025 (Mar 5);68(3):1137-1150.

PURPOSE: Despite group-level improvements in active engagement and related outcomes, significant individual variability in response to early intervention exists. The purpose of this preliminary study was to examine the effects of a group-based Naturalistic Developmental Behavioral Intervention (NDBI) on active engagement among a heterogeneous sample of young autistic children in a clinical setting. METHOD: Sixty-three autistic children aged 24-60 months (M = 44.95, SD = 10.77) participated in an inclusive group-based NDBI over a period of 10 months. Speech-language pathologists used an abbreviated version of the measure of active engagement to rate children’s active engagement at three treatment time points. RESULTS: Linear mixed-effects regression analyses revealed that active engagement significantly increased from Time 1 to Time 2 (after 6 months of the group-based NDBI) and persisted through Time 3 (after 10 months of the group-based NDBI). Symmetrized percent change analyses revealed that 48% of the sample (n = 30) exhibited an increasing trajectory, 29% were stable, and 24% showed a decreasing trajectory. Age and parent-reported social pragmatic concerns at program entry, as well as the length of time participating in the group-based NDBI, were differentially associated with the identified subgroups, signaling baseline child characteristics that may be associated with NDBI response. CONCLUSION: These findings highlight the importance of careful monitoring of active engagement to guide clinical decision making regarding changing intervention strategies, targets, or the intensity of the NDBI if gains are not observed.

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28. Siampou MD, Nocera L, Oh J, Smith BA, Shahabi C. An Algorithmic Approach for Detecting Neuromotor Developmental Disabilities in Infants from Wearable Sensor Data. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-4.

The inherent challenges in recruiting human subjects, particularly infants, often hinder the acquisition of sufficiently large datasets for health research, thereby limiting the applicability of conventional machine-learning (ML) approaches. In this study, we analyze full-day motion recordings from two groups: typically developing infants (N = 12) and infants at risk for developmental disabilities (N = 24), further divided into those with good (N = 10) and poor (N = 9) developmental outcomes at 24 months. The goal is to differentiate at-risk (AR) infants from those with typical development (TD) and predict outcomes for the at-risk category using wearable data. Due to its limited size, previous studies on this dataset, employing statistical and machine learning methods, raise reliability concerns. To address this, we introduce a novel algorithmic approach to extract meaningful patterns, referred to as Motifs, from the raw signals. The abundance of Motifs serves as highly informative indicators, enabling effective differentiation between the groups. Evaluation on this limited-size dataset demonstrates the effectiveness of Motifs in distinguishing AR from TD infants and predicting future outcomes for the at-risk category.

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29. Smith JV, Howard M, Menezes M, Burroughs C, Pappagianopoulos J, Sastri V, Brunt S, Miller R, Parenchuk A, Kuhn J, Mazurek MO. Building Capacity: A Systematic Review of Training in the Diagnosis of Autism for Community-Based Clinicians. Autism Res;2025 (Mar 5)

In an effort to reduce the « waitlist crisis, » researchers have developed training programs to educate community-based clinicians in best-practice autism diagnostic assessments. This systematic review aims to synthesize the effectiveness and implementation outcomes of such trainings. The following databases were searched from inception until August 2023: PubMed, Web of Science, APA PsycINFO, CINAHL, ERIC, and a select number from Google Scholar. Ten studies were included in the present review because they met the following criteria: development and/or evaluation of a training for practicing community-based clinicians to diagnose autism, published full-text in English, and original research. Risk of bias was assessed through an adapted NIH quality assessment tool. Only seven distinct training programs in autism diagnosis for practicing community-based clinicians were identified. Trainings demonstrated preliminary efficacy in the improvement of clinician knowledge, self-efficacy, practice behavior, and diagnostic accuracy. Many of the trainings had a reported positive impact on the community and were feasible to participate in; however, systems-level factors (e.g., time and reimbursement) remain as barriers to community-based diagnosis. Findings from the present review position clinician training as a promising strategy to increase families’ timely access to an autism diagnosis. More research on training models is needed due to both the limited number of trainings and the limited reported effectiveness and implementation outcomes. Future implementation studies are also needed to reduce systems-level barriers and to aid in the determination of what trainings best fit the needs of different contexts.

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30. Soleimani N, Calhoun VD. Neural Complexity Unveiled: Doubly Functionally Independent Primitives (dFIPs) in Psychiatric Risk Score Assessment. Annu Int Conf IEEE Eng Med Biol Soc;2024 (Jul);2024:1-4.

Understanding and predicting intricate neural underpinnings of psychiatric disorders has become an area of intensive research in neuroimaging. Current assessment methods, such as genetic testing, face limitations in providing adaptable biomarkers. This study introduces an innovative perspective by focusing on doubly functionally independent primitives (dFIPs) to assess risk scores modeled by employing multiple linear regression. Departing from traditional polygenic risk scores, our novel approach assesses an individual’s psychiatric risk by contrasting their functional network connectivity (FNC) with reference patterns from psychiatric disorder. Leveraging a large imaging dataset (N=5805) encompassing schizophrenia (SZ), autism spectrum disorder (ASD), bipolar disorder (BPD) and major depressive disorder (MDD), alongside corresponding healthy controls, the risk score is computed and applied to a diverse dataset of Adolescent Brain and Cognitive Development (ABCD, N=8191). Our major findings unveiled the nuanced significance of reconstructed FNCs based on the most discriminative dFIP patterns in the 10% of the ABCD individuals with highest risk score for the specific disorder. Furthermore, the 10% ABCD individuals with highest risk score of ASD and MDD showed greater overlap than individuals with other disorders. Overall, these findings underscored the relative importance of each dFIP pattern, providing valuable insight into the differential contributions of these patterns to the accurate prediction of elevated risk score. Also, this pioneering approach provides a promising avenue for comprehensive risk assessment.

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31. Srinivasan A, Luccarelli J, Tamargo R, Adegoke T, Smith JR. Treat to Sedation: Managing Intravenous Placement for Electroconvulsive Therapy in Autism with Intellectual Disability and Hyperactive Catatonia. J Child Adolesc Psychopharmacol;2025 (Mar 5)

Purpose: Catatonia is a severe psychomotor and mood-related disorder, which can significantly impact the quality of life for autistic individuals. Often, electroconvulsive therapy (ECT) is required for treatment of catatonia in autism. However, hyperactive, impulsive, and aggressive symptoms are common in this subpopulation. Thus, pharmacologic agents are needed to assist in obtaining intravenous (IV) access and placement of necessary monitoring leads when ECT is pursued. Here we report six patients with autism and hyperactive catatonia who successfully and safely received intramuscular (IM) ketamine to obtain IV access for ECT while prescribed high-dose benzodiazepines for catatonia. Methods: Using SlicerDicer software found within Epic Systems electronic medical record, we conducted a single-site retrospective analysis. All patients had a diagnosis of autism, were treated for hyperactive catatonia with ECT, and required the use of ketamine for safe IV placement. Diagnoses of autism and catatonia were confirmed per the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders. Results: Six patients were identified. All patients met criteria for autism, intellectual disability, and catatonia. The patient’s ages ranged from 10 to 30 years, and all were prescribed high doses of benzodiazepines for treatment of catatonia, with a mean dose of 24 mg per day in lorazepam equivalents. The patients’ symptoms of hyperactive catatonia impaired the ability to obtain IV access. Thus, IM ketamine was received by all patients to facilitate this process. All patients were able to receive ECT. Conclusion: In all cases, IM ketamine was successfully used to obtain IV access and allow patients to receive ECT uneventfully. No serious adverse events were reported despite the coadministration of ketamine with high-dose benzodiazepines in this patient subpopulation.

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32. Vilaseca R, Rivero M, Leiva D, Roggman LA, Innocenti MS. The use of video feedback to promote developmentally supportive parent-child interactions with young children with ASD or at risk: study protocol for a randomized controlled trial (VIFEPOPA-RCT). BMC Psychol;2025 (Mar 4);13(1):196.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by difficulties in social communication and interaction, and repetitive and restrictive behaviors and interests from an early age. ASD often negatively affects caregiver-child interactions, caregiver emotional well-being and self-efficacy, and quality of family life. Positive caregiver-child interactions are crucial for good developmental outcomes, leading to the development of Parent-Mediated Interventions (PMIs). PMIs tend to follow an expert model where professionals provide direct instruction on treatment techniques and parental behaviors. However, research supports a shift towards a more collaborative and reflective approach, using coaching strategies that highlight caregiver strengths and encourage self-reflection. This study tests a video-feedback intervention (VFI) with parents of young children at risk of ASD. METHODS: A randomized controlled trial (RCT) with 60 families, recruited from Early Intervention Centers in Spain, meeting inclusion criteria: adequate use of internet, child aged 24-36 months with a high risk of ASD (M-CHAT-R score ≥ 8), and participant primary caregiver (mother or father) with high anxiety, depression, or parental stress (score ≥ 1 SD above M), and low or medium-low developmentally supportive parental behaviors (PICCOLO score ≤ 40). Families will be randomly assigned to an intervention group (receiving usual services plus VFI) or a control group (usual services). The intervention includes twelve bi-weekly 90-min sessions over six months, with the caregiver. Outcome measures include parenting behaviors, emotional state, self-efficacy, family quality of life, and child development collected at pre-intervention, post- intervention and six-month follow-up. DISCUSSION: The study will assess whether the intervention enhances developmentally supportive parental behaviors, emotional well-being, self-efficacy, and family quality of life, with a secondary positive impact on child development. If proven effective, it could be a cost-effective intervention with both short and long-term benefits. TRIAL REGISTRATION: ClinicalTrials.gov Identifier NCT06604988. Registered on September 17, 2024. Retrospectively registered.

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33. Yorke I, Murphy J, Rijsdijk F, Colvert E, Lietz S, Happé F, Bird G. Alexithymia may explain the genetic relationship between autism and sensory sensitivity. Transl Psychiatry;2025 (Mar 5);15(1):75.

Sensory symptoms are highly prevalent amongst autistic individuals and are now considered in the diagnostic criteria. Whilst evidence suggests a genetic relationship between autism and sensory symptoms, sensory symptoms are neither universal within autism nor unique to autism. One explanation for the heterogeneity within autism and commonality across conditions with respect to sensory symptoms, is that it is alexithymia (a condition associated with difficulties identifying and describing one’s own emotions) that has a genetic relationship with sensory symptoms, and that alexithymia commonly co-occurs with autism and with several other conditions. Using parent-reports of symptoms in a sample of adolescent twins, we sought to examine the genetic association between autism, alexithymia and sensory symptoms. Results showed that the genetic correlation between autism and sensory symptoms was not significant after controlling for alexithymia. In contrast, after controlling for variance in alexithymia explained by autism, the genetic correlation between alexithymia and sensory symptoms was significant (and the proportion of variance explained by genetic factors remained consistent after controlling for autism). These results suggest that 1) alexithymia and sensory symptoms share aetiology that is not accounted for by their association with autism and 2) that the genetic association between sensory symptoms and autism may be, in part or wholly, a product of alexithymia. Future research should seek to examine the contribution of alexithymia to sensory symptoms across other conditions.

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