1. Alayadhi LY, Halepoto DM, Alhowikan AM, Elamin NE, Halepota AT. Low Plasma Levels of Contactin-Associated Protein-Like 2 in Children with Autism Spectrum Disorder: Links to Neural Development. Neuropsychiatr Dis Treat. 2024; 20: 2423-31.

BACKGROUND: Autism spectrum disorder (ASD) is a condition of atypical neurodevelopment and is characterized by social communication problems and repetitive patterns of behavior. Early diagnosis and intervention are decisive for managing symptoms and improving outcomes. Contactin-associated protein-like 2 (CNTNAP2) protein is implicated in neural development and plays a role in brain connectivity and synapse formation. Genetic research has shown a possible link between CNTNAP2 and ASD. AIM: We aimed to discover the blood plasma levels of CNTNAP2 in children with ASD and explore the potential association between CNTNAP2 concentrations and ASD severity. METHODOLOGY: This case-control study included children with ASD (n=40) and aged-matched healthy controls (n=40). Blood plasma levels of CNTNAP2 were measured using enzyme-linked immunosorbent assay (ELISA). The Children Autism Rating Scale (CARS) and Social Responsiveness Scale (SRS) were used to assess the severity of the ASD. Spearman correlation coefficient (r) was used to correlate the variables. RESULTS: Children with severe ASD had significantly lower CNTNAP2 levels (0.31 (0.14) ng/mL, p=0.003) compared to normal controls (0.47 (0.24) ng/mL). However, CNTNAP2 levels of children with mild autism (0.44(0.22), ng/mL, p=0.77) were not significantly different as compared to normal controls (0.47 (0.24) ng/mL). Furthermore, a significant difference was found between CNTNAP2 levels, by comparing the mild and severe groups based on the CARS (p= 0.05). Furthermore, no significant correlation between CNTNAP2 levels, and severity scores (CARS and SRS), was obtained. However, a significant correlation between CNTNAP2 and age was observed. CONCLUSION: The low CNTNAP2 plasma level in children with ASD indicated that it might be involved in the pathophysiology of ASD. Nevertheless, these results should be interpreted with care till more studies are achieved using a larger population to decide whether the reduction in CNTNAP2 plasma level is a mere outcome of ASD or it plays a pathogenic role in the disease.

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2. Berg KL, Herrman D, Bernard L, Shiu CS, Mihaila I, Arnold C, Acharya K, Gladstone TRG, Danguilan C, Gussin H, Perez P, Herrman A, Aaron S, Thornton A, Gerges M, Patriarca C, Pak JJ, Van Voorhees BW. Involving youth with intellectual and/or developmental disabilities as collaborators in a comparative effectiveness trial: A community-engaged research approach. Contemp Clin Trials Commun. 2024; 42: 101395.

BACKGROUND: Practices to include youth with intellectual and/or developmental disabilities (IDD) are necessary to design and implement research that specifically meets the behavioral health needs of this population. This article describes a protocol for engaging youth with IDD as collaborators in a comparative effectiveness clinical trial using a community-engaged research (CEnR) approach. METHODS: Our engagement protocol, guided by the Community Engaged Research (CEnR) Framework, emphasized harm avoidance, accessibility, demonstrated value, capacity bridging and co-learning, shared power and equity in decision-making, accountability and respect, and transparent communication. We involved seven youth with IDD in a Youth Advisory Committee (YAC) and four youth with IDD in a Summer Scholars program, ensuring consistent and structured engagement throughout the study. RESULTS: Youth with IDD maintained high levels of engagement in both the YAC and Summer Scholars Program with 100 % retention across two years. Youth used multiple modalities to provide feedback on aspects of the research project, resulting in study modifications, the co-development of products, and tangible improvements in the accessibility and relevance of the study for youth with IDD. CONCLUSION: Researchers and clinicians seeking to engage the historically underserved population of disabled youth in clinical trial research can leverage our findings to enhance the accessibility and inclusivity of their studies.

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3. Chiperi LE, Hagau AC, Tecar C, Hutanu A, Muntean I. Brain-derived neurotrophic factor as a promising neuromarker which could predict psychomotor developmental impairment in children with unrepaired congenital heart defects. Int J Dev Neurosci. 2025; 85(1): e10400.

INTRODUCTION: The aim of the study was to assess the predicting value of neuromarkers for psychomotor performances of congenital heart defect (CHD) patients before surgery, as until now the researchers only evaluated neuromarkers after the surgical treatment of the CHD. METHODS: This cross-sectional study included children with CHD who did not receive treatment (interventional or cardiac surgery). Psychomotor development was evaluated using the Denver II Screening Test. Blood samples were collected for neuromarkers analysis: neuron-specific enolase (NSE), protein S100 (pS100), brain-derived neurotrophic factor (BDNF), and glial fibrillary acidic protein (GFAP). RESULTS: We enrolled 77 children. Patients with CHD experienced more frequent developmental delays compared to healthy children (12-34% in the non-cyanotic group and 26-74% in the cyanotic group). The association between type of CHD and psychomotor impairment was statistically significant (p < 0.0001, RR = 2.604, CI = 2.07-3.26). Neuromarkers value was compared between cyanotic and non-cyanotic groups: NSE and BDNF values were higher in the cyanotic group, respectively, pS100 and GFAP had slightly higher values in the non-cyanotic group. A correlation coefficient of 0.35 (p = 0.023) was obtained between psychomotor development and BDNF level. An AUC of 0.72 was obtained for psychomotor development and BDNF in ROC analysis with the cut-off value of 5895 pg/ml. CONCLUSION: BDNF is showing moderate discriminative ability in predicting psychomotor development outcomes in pediatric patients with CHD.

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4. Cui J, Li H, Hu C, Zhang F, Li Y, Weng Y, Yang L, Li Y, Yao M, Li H, Luo X, Hao Y. Unraveling pathogenesis and potential biomarkers for autism spectrum disorder associated with HIF1A pathway based on machine learning and experiment validation. Neurobiol Dis. 2024; 204: 106763.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high social burden and limited treatments. Hypoxic condition of the brain is considered an important pathological mechanism of ASD. HIF1A is a key participant in brain hypoxia, but its contribution to the pathophysiological landscape of ASD remains unclear. METHODS: ASD-related datasets were obtained from GEO database, and HIF1A-related genes from GeneCards. Co-expression module analysis identified module genes, which were intersected with HIF1A-related genes to identify common genes. Machine learning identified hub genes from intersection genes and PPI networks were constructed to explore relationships among hub and HIF1A. Single-cell RNA sequencing analyzed hub gene distribution across cell clusters. ASD mouse model was created by inducing maternal immune activation (MIA) with poly(I:C) injections, verified through behavioral tests. Validation of HIF1A pathway and hub genes was confirmed through Western Blot, qPCR, and immunofluorescence in ASD mice and microglia BV-2 cells. RESULTS: Using CEMiTool and GeneCards, 45 genes associated with ASD and HIF1A pathway were identified. Machine learning identified CDKN1A, ETS2, LYN, and SLC16A3 as potential ASD diagnostic markers. Single-cell sequencing pinpointed activated microglia as key immune cells. Behavioral tests showed MIA offspring mice exhibited typical ASD-like behaviors. Immunofluorescence confirmed the activation of microglia and HIF1A pathway in frontal cortex of ASD mice. Additionally, IL-6 contributed to ASD by activating JUN/HIF1A pathway, affecting CDKN1A, LYN, and SLC16A3 expression in microglia. CONCLUSIONS: HIF1A-related genes CDKN1A, ETS2, LYN, and SLC16A3 are strong diagnostic markers for ASD and the activation of IL-6/JUN/HIF1A pathway in microglia contributes to the pathogenesis of ASD.

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5. Delgado C. Autism service stops taking new patients amid 18 year wait for diagnosis. Bmj. 2024; 387: q2786.

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6. DiGuiseppi C, Crume T, Holst B, Aiona K, Van Dyke J, Croen LA, Daniels JL, Friedman S, Sabourin KR, Schieve LA, Wiggins L, Windham GC, Robinson Rosenberg C. Associations of maternal peripregnancy cannabis use with behavioral and developmental outcomes in children with and without symptoms of autism spectrum disorder: Study to Explore Early Development. Autism Res. 2024.

Some studies report increased prevalence of autism spectrum disorder (ASD) and associated symptoms with prenatal cannabis exposure. We examined whether associations of maternal cannabis use from 3 months preconception through delivery (« peripregnancy ») with behavior and development in the offspring varied with the presence of ASD symptoms. Children ages 30-68 months with ASD symptoms (i.e., met study criteria for ASD or had ASD symptoms on standardized assessments or community ASD diagnosis, N = 2734) and without ASD symptoms (other developmental delay/disorders or general population sample, N = 3454) were evaluated with the Child Behavior Checklist and Mullen Scales of Early Learning. We examined cannabis use during three time periods: peripregnancy, pregnancy, and only preconception. Peripregnancy cannabis exposure was reported for 6.0% of children with and 4.6% of children without ASD symptoms. Preconception-only cannabis use (versus no use) was associated with more aggressive behavior, emotional reactivity, and sleep problems in children with ASD symptoms, but not in children without ASD symptoms. Cannabis use during pregnancy was associated with increased attention and sleep problems in children with ASD symptoms; these associations did not differ significantly by ASD symptoms. Peripregnancy cannabis use was not associated with child developmental abilities regardless of ASD symptoms. In summary, associations of peripregnancy cannabis use with some behavioral outcomes differed in children with and without ASD symptoms. With rising cannabis use among pregnant women, future studies that examine a range of developmental risks associated with timing and patterns of cannabis use prior to conception as well as during pregnancy could inform clinical guidance.

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7. Guo X, Wang X, Zhou R, Cui D, Liu J, Gao L. Altered Temporospatial Variability of Dynamic Amplitude of Low-Frequency Fluctuation in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with altered brain activity. However, little is known about the integrated temporospatial variation of dynamic spontaneous brain activity in ASD. In the present study, resting-state functional magnetic resonance imaging data were analyzed for 105 ASD and 102 demographically-matched typically developmental controls (TC) children obtained from the Autism Brain Imaging Data Exchange database. Using the sliding-window approach, temporal, spatial, and temporospatial variability of dynamic amplitude of low-frequency fluctuation (tvALFF, svALFF, and tsvALFF) were calculated for each participant. Group-comparisons were further performed at global, network, and brain region levels to quantify differences between ASD and TC groups. The relationship between temporospatial dynamic amplitude of low-frequency fluctuation variation alterations and clinical symptoms of ASD was finally explored by a support vector regression model. Relative to TC, we found enhanced tvALFF in visual network (Vis), somatomotor network (SMT), and salience/ventral attention network (SVA) of ASD, and weakened tvALFF in dorsal attention network (DAN) of ASD. Besides, ASD showed decreased svALFF in Vis, SVA, and limbic network (Limbic), and increased svALFF in DAN and default mode network (DMN). Elevated tsvALFF was found in the Vis, SMT, and DMN of ASD. More importantly, the altered tsvALFF from the DMN can predict the symptom severity of ASD. These findings demonstrate altered temporospatial dynamics of the spontaneous brain activity in ASD and provide novel insights into the neural mechanism underlying ASD.

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8. Hong V, Miller F, Kentopp S, Reynard H, Biermann B, Beser C, Shamshair S, Fay B, Shobassy A, Stanley M, Weston C, Ghaziuddin M, Ghaziuddin N. Patients with Autism Spectrum or Intellectual Disability in the Psychiatric Emergency Department: Findings from a 10-year Retrospective Review. J Autism Dev Disord. 2024.

PURPOSE: There is a dearth of information about patients with autism spectrum disorder (ASD) or intellectual disability (ID) who seek emergency psychiatric care. Given this backdrop, this retrospective study aims to explore clinical, demographic, and disposition-related information about this patient population over a 10-year period. METHODS: This study includes individuals with ASD or ID (n = 1461) and had presented to a psychiatric emergency department between 2012 and 2021. Data were extracted using a structured chart review methodology, and included demographic, clinical and visit information. Bivariate and multivariate logistic regressions were estimated to explore associations between key variables and dispositions of interest. RESULTS: Sample was predominantly White (77.21%), adolescent (mean age ± SD = 15.5 ± 4.3) and male (72.76%). The most common reason for their presentation was aggression towards others (36.39%). 28.27% of patients were psychiatrically hospitalized but 30% of those who needed hospitalization were discharged due to lack of inpatient bed availability. CONCLUSION: This study adds to the limited literature about individuals with ASD or ID seeking emergency care. The results indicate a highly acute patient population with aggression, suicidal thoughts, and self-injurious behaviors who are frequently prescribed psychotropic medications and face barriers to accessing higher levels of care.

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9. Jain S, Shah K, Woo S, Dykman M, Fung LK, Rork JF. Strengths-Based Assessment and Inclusive Language for Patients With Intellectual and Developmental Disabilities. Pediatr Dermatol. 2024.

Pediatric dermatology patients with intellectual and developmental disabilities (IDD) and comorbid cutaneous conditions often face barriers to effective healthcare due to differences in communication preferences and sensitivities to environmental factors. The clinical intake process serves as a potential intervention point to help better understand and meet patients’ needs. Strengths-based assessment and considerations around identity-first versus person-first language are tools that can improve the clinical intake process in pediatric dermatology. We provide examples of intake questions and recommendations to help guide IDD-informed care.

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10. Jhanji M, Krall CL, Guevara A, Yoon B, Sajish M, Boccuto L, Lizarraga SB. The intersection of inflammation and DNA damage as a novel axis underlying the pathogenesis of autism spectrum disorders. bioRxiv. 2024.

Autism spectrum disorders (ASD) affects 1 in 36 children and is characterized by repetitive behaviors and difficulties in social interactions and social communication. The etiology of ASD is extremely heterogeneous, with a large number of ASD cases that are of unknown or complex etiology, which suggests the potential contribution of epigenetic risk factors. In particular, epidemiological and animal model studies suggest that inflammation during pregnancy could lead to an increased risk of ASD in the offspring. However, the molecular mechanisms that contribute to ASD pathogenesis in relation to maternal inflammation during pregnancy in humans are underexplored. Several pro-inflammatory cytokines have been associated with increased autistic-like behaviors in animal models of maternal immune activation, including IL-17A. Using a combination of ASD patient lymphocytes and stem cell-derived human neurons exposed to IL-17A we discovered a shared molecular signature that highlights a metabolic and translational node that could lead to altered neuronal excitability. Further, our work on human neurons brings forward the possibility that defects in the DNA damage response could be underlying the effect of IL-17A on human excitatory neurons, linking exacerbated unrepaired DNA damage to the pathogenicity of maternal inflammation in connection to ASD.

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11. Karaminis T, Gabrielatos C, Maden-Weinberger U, Beattie G. Gender and family-role portrayals of autism in British newspapers: An intersectional corpus-based study. Autism. 2024: 13623613241303547.

A recent large-scale study on the portrayal of autism in British newspapers revealed a deficit-based coverage, which concentrated on children and boys in particular, typically represented from the mothers’ perspective. This follow-up study refines these representations, considering how they differ by gender and family role. We analysed 2998 text samples, which discussed autism in the context of four combinations of gender and family roles, namely, BOY, GIRL, FATHER and MOTHER. These samples included sources with different publication dates, reporting style and political orientation. Autism representations remained negative regardless of gender and family role. Over time, stories about autistic girls started to emerge, identifying them as a distinct group explicitly compared to autistic boys. Newspapers, especially broadsheets, associated girls with diagnostic difficulties, camouflaging and sometimes gender dysphoria – discussed particularly for those assigned female at birth. The child’s autism was more often attributed to maternal than paternal behaviours or lifestyle. Autistic mothers were mentioned more often than fathers and were portrayed negatively. We conclude that newspapers portray female autism as less significant than male autism and, in addition, place mothers under more ethical scrutiny than fathers. These disparities reflect both historical biases in autism research and gender and family-role stereotypes.

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12. Kim SY, Kim SY, Ji H, Yoon WH, Gillespie-Lynch K. Can a Culturally Adapted Autism Training Reduce Stigma Towards Autistic People in South Korea?. J Autism Dev Disord. 2024.

This randomized controlled trial examined the effectiveness of an online autism training intervention in reducing stigma toward autistic individuals. Participants were 208 Korean undergraduate students who were blinded to group allocation, with 106 assigned to the autism training and 102 assigned to a control intervention. All participants completed an online Qualtrics survey that included a pre-test survey (perceived similarity to different minority groups), the training, and a post-test survey (perceived similarity, stigma toward autistic people, knowledge about autism, confidence in their knowledge, and open-responses question asking for descriptions of autism). We conducted independent sample t tests and a mixed-effects model to examine group-level differences, and a reliable change index (RCI) analysis to examine individual changes in the perceived similarity score. The responses to the open-ended questions were analyzed using qualitative content analysis. Results revealed that the experimental group reported reduced stigma toward autistic individuals, increased perceived similarity with autistic individuals, and increased confidence in their autism knowledge and demonstrated increased knowledge about autism compared to the control group. At the individual level, the RCI analysis indicated that the training was effective for a notable subset of participants (25%). At post-test, the experimental group recognized the strengths of autistic people and described autistic individuals as « people like us, » while many in the control group mentioned misconceptions about autism. Future research should employ more robust intervention designs and tailor materials for diverse target populations, including administrators, to foster systemic destigmatization.

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13. Lousky Y, Selanikyo E, Tubul-Lavy G, Ben-Itzchak E. Toward workforce integration: enhancements in adaptive behaviors and social communication skills among autistic young adults following vocational training course. Front Psychol. 2024; 15: 1392672.

BACKGROUND: Cognitively able autistic adults demonstrate low rates of employment due to social and vocational challenges. The current study aimed to examine changes in various areas among autistic young adults who participated in the ‘Roim Rachok’ (‘Looking Ahead’ in Hebrew) Training Course (RRTC). The course prepares young autistic adults for integration into military service as vocational soldiers. METHODS: The study included 49 autistic participants who completed the RRTC in one of three vocational fields: Digital (n = 19), Technical (n = 9), and Visual (n = 21). Evaluations at the beginning and end of the course included adaptive behavior (Adaptive Behavior Assessment Scale 2(nd) Edition [ABAS-II]), autism symptom severity (Social Responsiveness Scale 2nd Edition [SRS-II]), and communication skills (Faux Pas; Empathy Quotient [EQ]; Friendship Quality Scale; Conversation task based on Yale in vivo Pragmatic Protocol [YiPP]). RESULTS: The results revealed a significant Time effect for the self-reported ABAS-II conceptual, social, and practical subdomains, EQ empathy quotient subdomain, Faux Pas, and SRS-II social communication interaction scores. Accordingly, participants reported increasing their adaptive skills, emotional empathy, and the ability to detect and interpret awkward statements, and decreased in their social communication interaction symptoms, following the RRTC. No significant Time x Group interaction was found for any of the examined measures, meaning similar trends were observed in all three vocational groups. CONCLUSION: Following the RRTC, participants reported significant improvements in areas essential for their future integration as soldiers in the military and as employees in the vocational world. Implications of the study findings are discussed.

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14. Lv D, Liu A, Yi Z, Mu M, Wu M, Li X, Cao K, Liu R, Jia Z, Han J, Xie W. Neuroligin 1 Regulates Autistic-Like Repetitive Behavior through Modulating the Activity of Striatal D2 Receptor-Expressing Medium Spiny Neurons. Adv Sci (Weinh). 2024: e2410728.

Restricted and repetitive behavior (RRB) is a primary symptom of autism spectrum disorder (ASD), which poses a significant risk to individuals’ health and is becoming increasingly prevalent. However, the specific cellular and neural circuit mechanisms underlying the generation of RRB remain unclear. In this study, it is reported that the absence of the ASD-related protein Neuroligin 1 (NLGN1) in dopamine receptor D2-expressing medium spiny neurons (D2-MSNs) in the dorsal striatum is associated with the duration and frequency of self-grooming and digging behaviors. The Nlgn1-deficient D2-MSNs are hyperactivated, which correlates with excessive self-grooming and digging behaviors. Inhibiting the activity of D2-MSNs reduces the duration and frequency of these RRBs. Furthermore, it is demonstrated that the generation of self-grooming and digging behaviors depends on distinct patterns of D2-MSN activity. Finally, through single-nucleus RNA sequencing (sn-RNAseq) and protein detection verification, it is revealed that the overactivation of protein kinase C (PKC) in Nlgn1-deficient mice contributes to excessive repetitive behaviors and increased neuronal excitability. In this study, potential mechanisms are proposed for the generation of self-grooming and digging behaviors, as well as suggest possible treatments and interventions ASD.

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15. Ma W, Dai X, Zhang H. Correction: Perception and Production of Pitch Information in Mandarin-Speaking Children with Autism Spectrum Disorders. J Autism Dev Disord. 2024.

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16. Merchie A, Bonnet-Brilhault F, Escera C, Houy-Durand E, Gomot M. Unraveling neural adaptation to vocal and non-vocal sounds in autism. Clin Neurophysiol. 2024; 170: 58-66.

OBJECTIVE: Autism is linked to a strong need for sameness and difficulties in social communication, associated with atypical brain responses to voices and changes. This study aimed to characterize neural adaptation in autistic adults using a Roving paradigm and assess how vocal vs. non-vocal, as well as neutral vs. emotional sounds, influence this adaptation. METHODS: Neural adaptation was measured in 20 autistic and 20 non-autistic adults using a Roving paradigm, where sounds were repeated 4, 8, or 14 times. Neural responses and Repetition Positivity (RP) amplitudes were analyzed as indices of adaptation. RESULTS: RP amplitudes showed no significant differences between groups for vocal or non-vocal sounds, but adaptation dynamics varied. Non-autistic adults adapted more quickly to non-vocal (5-8 repetitions) compared to vocal sounds (12-14 repetitions). In contrast, autistic adults adapt faster to vocal than to non-vocal sounds. Moreover emotional prosodic content influenced RP amplitude in autistic adults only, suggesting heightened sensitivity to emotional cues in social contexts. CONCLUSIONS: The study highlights how atypical neural adaptation in autism how emotional content impacts social communication deficits. These insights enhance understanding of autism-related adaptation challenges.

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17. Minutoli R, Scarcella I, Doria G, Vetrano N, Chilà P, Sireci MJ, Gismondo S, Failla C, Pioggia G, Marino F. Case report: Receptive labeling training in autism: conventional vs. technology-based approaches? a single case study. Front Psychiatry. 2024; 15: 1437293.

BACKGROUND: Receptive language, the ability to comprehend and respond to spoken language, poses significant challenges for individuals with Autism Spectrum Disorder (ASD). To support communication in autistic children, interventions like Lovaas’ simple-conditional method and Green’s conditional-only method are commonly employed. Personalized approaches are essential due to the spectrum nature of autism. Advancements in technology have opened new avenues for personalizing therapeutic interventions. This single case study compares traditional and technology-based learning sets in a receptive labeling teaching program using Green’s method. METHODS: An alternating treatments design assessed the number of sessions required to achieve mastery in receptive identification of stimuli presented on flashcards or tablets. The study involved a six-year-old Italian child with ASD named Pietro. Initial assessment using the Verbal Behavior Milestone Assessment and Placement Program (VB-MAPP) determined Pietro’s strengths and weaknesses. Six stimuli were selected and divided into two sets: traditional and technology-based. Sessions were semi-randomly alternated, and the teaching procedures remained constant across conditions. In the traditional condition, sessions were conducted twice a week, using flashcards. Correct responses received immediate social reinforcement. In the technological condition, the same stimuli were presented on a tablet via PowerPoint slides. RESULTS: Pietro achieved mastery more quickly with flashcard instruction than with tablet instruction. Learning was exponential in the traditional condition and linear in the digital condition. Follow-up assessments three weeks post-treatment showed no differences in the generalization and maintenance of skills between the two modalities. DISCUSSION: The findings indicate that the format of stimulus delivery affects the learning process, with traditional flashcards leading to faster mastery in this case. Individual motivation appears crucial, suggesting that Pietro’s learning history influenced his performance. Personalized approaches remain vital in autism interventions. Further research is needed to determine if these differences extend to other skills or contexts. CONCLUSION: While technology-based interventions offer new opportunities, they are not universally more effective than traditional methods. Careful consideration of individual differences, especially motivational factors, is essential in designing effective autism intervention programs.

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18. Natowicz MR, Bauman ML, Edelson SM. A most important gift: the critical role of postmortem brain tissue in autism science. Front Neurol. 2024; 15: 1486227.

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19. Schwartz AE, McDonald K. Social validity of Research Ethics for All: Social-behavioral research ethics education for community research partners with developmental disabilities. Disabil Health J. 2024: 101762.

BACKGROUND: Training in research ethics supports community research partners with developmental disabilities to take on additional research responsibilities. We worked with an academic-community partnership to develop an accessible research ethics training tailored to the roles of community research partners with developmental disabilities that leads to certification: Research Ethics for All. OBJECTIVE: We evaluated the social validity of the educational activities and certification process. METHODS: We shared the training via a webinar and gathered feedback from attendees using polls (138 attendees; 92 respondents). In addition, four research teams composed of academic researchers and community research partners with developmental disabilities completed Research Ethics for All. Teams provided feedback on a series of surveys as they prepared to use the training, completed each of the 5 learning units, and after completing the training. We calculated descriptive statistics and used a pragmatic content analysis approach to analyze open-ended data. RESULTS: Teams were satisfied with the training and felt it supported learning. They endorsed the videos and learning activities but thought videos should be shorter. 68.5% of webinar attendees felt that Research Ethics for All covers essential information in social-behavioral research ethics. Several IRBs have approved the use of Research Ethics for All. CONCLUSIONS: Research Ethics for All is an acceptable research ethics training that may support community research partners with developmental disabilities to take on important research responsibilities in social-behavioral research.

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20. Segura P, Pagani M, Bishop SL, Thomson P, Colcombe S, Xu T, Factor ZZ, Hector EC, Kim SH, Lombardo MV, Gozzi A, Castellanos XF, Lord C, Milham MP, Martino AD. Connectome-based symptom mapping and in silico related gene expression in children with autism and/or attention-deficit/hyperactivity disorder. medRxiv. 2024.

Clinical, neuroimaging and genomics evidence have increasingly underscored a degree of overlap between autism and attention-deficit/hyperactivity disorder (ADHD). This study explores the specific contribution of their core symptoms to shared biology in a sample of N=166 verbal children (6-12 years) with rigorously-established primary diagnoses of either autism or ADHD (without autism). We investigated the associations between inter-individual differences in clinician-based dimensional measures of autism and ADHD symptoms and whole-brain low motion intrinsic functional connectivity (iFC). Additionally, we explored their linked gene expression patterns in silico. Whole-brain multivariate distance matrix regression revealed a transdiagnostic association between autism severity and iFC of two nodes: the middle frontal gyrus of the frontoparietal network and posterior cingulate cortex of the default mode network. Across children, the greater the iFC between these nodes, the more severe the autism symptoms, even after controlling for ADHD symptoms. Results from segregation analyses were consistent with primary findings, underscoring the significance of internetwork iFC interactions for autism symptom severity across diagnoses. No statistically significant brain-behavior relationships were observed for ADHD symptoms. Genetic enrichment analyses of the iFC maps associated with autism symptoms implicated genes known to: (i) have greater rate of variance in autism and ADHD, and (ii) be involved in neuron projection, suggesting shared genetic mechanisms for this specific brain-clinical phenotype. Overall, these findings underscore the relevance of transdiagnostic dimensional approaches in linking clinically-defined phenomena to shared presentations at the macroscale circuit- and genomic-levels among children with diagnoses of autism and ADHD.

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21. Wang RK, Kwong K, Liu K, Kong XJ. New eye tracking metrics system: the value in early diagnosis of autism spectrum disorder. Front Psychiatry. 2024; 15: 1518180.

BACKGROUND: Eye tracking (ET) is emerging as a promising early and objective screening method for autism spectrum disorders (ASD), but it requires more reliable metrics with enhanced sensitivity and specificity for clinical use. METHODS: This study introduces a suite of novel ET metrics: Area of Interest (AOI) Switch Counts (ASC), Favorable AOI Shifts (FAS) along self-determined pathways, and AOI Vacancy Counts (AVC), applied to toddlers and preschoolers diagnosed with ASD. The correlation between these new ET metrics and Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) scores via linear regression and sensitivity and specificity of the cut-off scores were assessed to predict diagnosis. RESULTS: Our findings indicate significantly lower FAS and ASC and higher AVC (P<0.05) in children with ASD compared to their non-ASD counterparts within this high-risk cohort; the significance was not seen in total fixation time neither pupil size (p > 0.05). Furthermore, FAS was negatively correlated with ADOS-2 total scores and social affect (SA) subscale (p < 0.05). Among these new ET metrics, AVC yielded the best sensitivity 88-100% and specificity 80-88% with cut off score 0.305-0.306, followed by FAS and ASC to separate ASD from non-ASD for diagnosis. CONCLUSIONS: This study confirms the utility of innovative ET metrics-FAS, AVC, and ASC-which exhibit markedly improved sensitivity and specificity, enhancing ASD screening and diagnostic processes.

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22. Xie S, Zuo K, De Rubeis S, Ruggerone P, Carloni P. Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex. Protein Sci. 2025; 34(1): e5238.

The WAVE regulatory pentameric complex regulates actin remodeling. Two components of it (CYFIP2 and NCKAP1) are encoded by genes whose genetic mutations increase the risk for autism spectrum disorder (ASD) and related neurodevelopmental disorders. Here, we use a newly developed computational protocol and hotspot analysis to uncover the functional impact of these mutations at the interface of the correct isoforms of the two proteins into the complex. The mutations turn out to be located on the surfaces involving the largest number of hotspots of the complex. Most of them decrease the affinity of the proteins for the rest of the complex, but some have the opposite effect. The results are fully consistent with the available experimental data. The observed changes in the WAVE regulatory complex stability might impact on complex activation and ultimately play a role in the aberrant pathway of the complex, leading to the cell derangement associated with the disease.

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23. Xing J, Kang Y, Kuo F, Sun X, Xi J, Kang Z. A Serial Mediation Model of Resilience Among Caregivers of Children With Autism. Am J Occup Ther. 2025; 79(1).

IMPORTANCE: Resilience has been reported as a vital element against the high burden on caregivers of children with autism. However, the intricate mechanisms underlying the concurrent interplay of positive factors with resilience within this demographic group remain less understood. OBJECTIVE: To construct a model to verify the sequential mediating influence of hope and gratitude in the relationship between perceived social support and resilience among caregivers of children with autism. DESIGN: Cross-sectional study. PARTICIPANTS: A total of 193 caregivers of children with autism in mainland China. OUTCOMES AND MEASURES: Data were collected using the Herth Hope Index, C-GQ-6 Gratitude Questionnaire, Perceived Social Support Scale, and Resilience Questionnaire for Parents of Children With Special Needs. The hypothesized mediating model was tested with Process 4.0 (Model 6) for SPSS (Version 26.0). RESULTS: The relationship of perceived social support and resilience was mediated by hope, gratitude, and the hope-gratitude sequence. Hope exhibited a stronger mediation effect, accounting for 26.23% of the total effect. CONCLUSIONS AND RELEVANCE: The results indicated significant positive correlations between perceived social support, hope, gratitude, and resilience, with perceived social support strongly linked to the other three. This study has important implications for occupational therapy, suggesting strategies for resilience-focused interventions tailored to caregivers of children with autism. PLAIN-LANGUAGE SUMMARY: Resilience is essential for caregivers of children with autism. Studies show that parents of children with autism report having fewer social supports, reduced quality of life, and heightened mental health challenges, including anxiety, depression, and hopelessness. This research highlights the connections between caregivers’ perceived social support, hope, gratitude, and resilience. Addressing caregiver social supports and mental health can enhance caregiver well-being as well as children’s participation in meaningful activities. The findings suggest practical implications and insights for occupational therapy practitioners to strengthen and foster caregiver resilience and well-being in the autism community.

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24. Yang M, Zhang L, Wei Z, Zhang P, Xu L, Huang L, Kendrick KM, Lei Y, Kou J. Neural and gaze pattern responses to happy faces in autism: Predictors of adaptive difficulties and re-evaluation of the social motivation hypothesis. Int J Clin Health Psychol. 2024; 24(4): 100527.

BACKGROUND: The « Social Motivation » hypothesis posits that social deficits in autism spectrum disorder (ASD) arise from altered reward perception. However, few studies have examined neural and behavioral responses to social reward-related cues in low functioning ASD children with limited cognitive or language abilities. OBJECTIVE: This study investigated if young children with ASD show atypical gaze towards happy faces and its association with altered brain reward responses. METHODS: Eye-tracking was performed in 36 ASD and 36 typically developing (TD) children (2.5-6 years) viewing happy faces of children or emoticons. Functional near infrared spectroscopy was used to record group differences in orbitofrontal cortex (OFC) activation simultaneously. RESULTS: Children with ASD showed increased pupil diameter and OFC activation compared to TD children when viewing all happy faces and gazed less at the eyes of actual faces and the mouths of emoticons. These atypical responses was associated with lower adaptive behavior scores and greater symptom severity. CONCLUSION: Our research reveals distinct neural hyperactivity and viewing patterns in young children with ASD when presented with reward-related facial stimuli. These results contradict the Social Motivation Hypothesis. Children with ASD exhibit heightened levels of arousal and employ less efficient facial processing strategies. This heightened demand for cognitive resources could have long-term effects on children’s well-being and may hinder their ability to develop adaptive skills effectively.

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25. Yoldas Celik M, Canda E, Yazici H, Erdem F, Yuksel Yanbolu A, Atik Altınok Y, Eraslan C, Aykut A, Durmaz A, Habif S, Kalkan Ucar S, Coker M. Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes. Eur J Pediatr. 2024; 184(1): 72.

Glutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The demographic, clinical, and laboratory findings of GA1 patients were reviewed retrospectively. This study presents the clinical, biochemical, genetic, and neuroimaging findings of 15 patients (six males, nine females) from 13 families diagnosed with GA1. The median age at diagnosis was 20 months, and the median follow-up period was 72 months. Developmental delay was observed in 66.7% of patients, with 46.7% experiencing seizures and 33.3% suffering from encephalopathic crises. Biochemical analyses showed elevated levels of glutaric acid and 3-hydroxyglutaric acid in 93.3% and 80% of patients, respectively. Genetic testing identified the p.Arg402Trp variant in 53.3% of patients. Neurological evaluations revealed delays in motor and speech development, with 66.7% of patients never achieving the ability to walk. Cranial MRI indicated white matter changes in all patients and basal ganglia involvement in 93.3%. Despite significant biochemical improvements with treatment in glutaric acid levels and head circumference over time, neurological deficits remain unchanged. Growth parameters such as body weight showed significant decreases due to poor neurological outcomes. CONCLUSION: The study underscores the importance of early diagnosis and intervention to mitigate severe neurological outcomes. Our findings highlight the need for incorporating GA1 into newborn screening programs to ensure timely diagnosis and treatment. WHAT IS KNOWN: • Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. If untreated, it often leads to severe neurological complications. Early diagnosis and treatment are crucial for improving clinical outcomes in GA1 patients. WHAT IS NEW: • This study presents comprehensive data from a cohort of 15 Glutaric aciduria type 1 (GA1) patients, detailing their biochemical, genetic, clinical, and neuroimaging findings. Drawing attention to the severe neurological findings in late-diagnosed patients underscores the critical importance of including GA1 in newborn screening programs to enhance early diagnosis and prevent severe outcomes.

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