Pubmed du 18/03/25

Pubmed du jour

1. Abder-Rahman H, Al-Abdallat I, Qaqish LN, Elqasass A, Al-Shaeb A, Abuzaid L, Samara YF. Understanding the link between autism and self-harm from a forensic lens. J Forensic Sci;2025 (Mar 17)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social communication difficulties, restricted interests, and repetitive behaviors. Individuals with ASD, particularly females, are at an increased risk of self-injurious behavior (SIB), which can sometimes be misinterpreted as signs of physical abuse. This case report describes a 17-year-old female with ASD and ADHD and limited verbal language skills who presented to the emergency room with multiple skin lesions resembling second-degree burns, raising concerns of child abuse. Initial assessments by the emergency and dermatology teams were inconclusive, and plastic surgeons suggested the lesions were burns. However, forensic specialists noted inconsistencies with burn patterns, including the absence of blisters and redness around newer lesions. A review of the patient’s psychiatric records revealed a history of repetitive self-harm, specifically aggressive scratching. Additional history from the family confirmed that the injuries were self-inflicted. Distinguishing between self-harming injuries and physical abuse in patients with ASD can be challenging, especially since both can coexist. This necessitates thorough assessment and experienced forensic consultation to avoid misdiagnosis, which can lead to significant legal and emotional consequences. To conclude, accurate diagnosis of self-harm versus abuse in patients with autism requires detailed investigation, consideration of psychiatric history, and forensic expertise. Moreover, early and correct diagnosis is crucial to prevent misattributed allegations of abuse and facilitate appropriate medical and psychiatric care for individuals with ASD.

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2. Alahmari FS, Alhabbad AA, Alshamrani HA, Almuqbil MA. Effectiveness of social skills training interventions for children with autism spectrum disorder: A systematic review and meta-analysis. Saudi Med J;2025 (Mar);46(3):226-237.

OBJECTIVES: To evaluatethe effectiveness of social skills training (SST) interventions for children with autism spectrum disorder (ASD). METHODS: A systematic review and meta-analysis were carried out to identify relevant studies published between 2000-2023. The study was conductedin accordance with the PRISMA guidelines. Studies were included if they met the following criteria: randomized controlled trials (RCTs) or quasi-RCTs, participants were children with ASD aged 3-18 years, SST interventions were delivered individually or in groups, and social skills were assessed using standardized measures. Effect sizes were calculated using Cohen’s d, and meta-analyses were carried out using a random-effects model. RESULTS: A total of 17 studies were included in the meta-analysis. The overall effect size for SST interventions was 0.28-0.60 (95% confidence interval: [0.23-0.41]), indicating a small to moderate effect. Social skills training interventions were effective in improving a range of social skills, including social communication, reciprocity, and joint attention. CONCLUSION: Social skills training interventions demonstrate modest to moderate effectiveness in improving social skills in children with ASD, with outcomes varying depending on intervention type, participant characteristics, and implementation fidelity. While SST interventions offer potential benefits, they should be considered as one component of a broader, individualized treatment plan for children with ASD, rather than a standalone solution.PROSPERO No. ID: CRD42024578682.

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3. Blackburn A, Stone-Heaberlin M, Tamm L, Smith J, Nidey N. Developing and Evaluating the Feasibility of a Behavioural Educational Programme for Transporting Students With Disabilities on School Buses. Child Care Health Dev;2025 (Mar);51(2):e70064.

BACKGROUND: Prevalence rates of intellectual and developmental disabilities (I/DD) continue to increase in the United States, and a high proportion of these students are estimated to ride buses daily to and from school. There is a need for transportation staff to (1) have a greater understanding of the challenges students with I/DD face during their daily bus journey and (2) learn how to provide behavioural support that is rooted in evidenced-based practices. AIMS: This work aimed to develop and evaluate a behavioural educational programme to address gaps in transportation staff knowledge and skills related to I/DD and examine feasibility of the programme through participant feedback. METHODS: Development of the programme was guided by caregiver focus groups, interviews with key stakeholders and field observations. Three training modules, a social narrative and a caregiver input form were developed. Training modules included topics related to the characteristics of I/DD, positive behavioural support, increasing communication with district staff and caregivers, the functions of behaviour and how to safely de-escalate behaviour. Implementation of the programme included training delivery to transportation staff (N = 886) at three school bus locations across the United States. Participants completed posttraining evaluations. RESULTS AND CONCLUSIONS: The overwhelming majority of participants reported agreement with statements related to satisfaction with the three trainings, as well as perceived increases in their knowledge and confidence in supporting students with I/DD on the school bus. Acceptability and preliminary effectiveness are established for the programme. Participants’ previous experience transporting students with disabilities was positively associated with acceptability and preliminary effectiveness. Caregiver and educator training programmes have demonstrated effectiveness in behavioural interventions for children with I/DD, but this study provides evidence of the feasibility of a behavioural education programme developed specifically for school bus transportation staff. This programme serves as a model for student transportation companies and school districts that are seeking strategies to better serve their students with I/DD in their bus-riding journeys.

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4. Chaturvedi A, Ramappa S, Anderson A, Banchik M, Shah U, Craske M, Green S. Integrating parent report, observed behavior, and physiological measures to identify biomarkers of sensory over-responsivity in autism. J Neurodev Disord;2025 (Mar 17);17(1):13.

BACKGROUND: Sensory over-responsivity (SOR) is a heightened reaction to environmental stimuli commonly seen in autism spectrum disorder (ASD) which impacts daily functioning. Parent-reported and observed behavioral assessments are used to study SOR, but show limited associations with each other, possibly because they measure different aspects of SOR or because children inhibit their responses during standardized assessments. Physiological measures provide an objective measure of sensory reactivity, and atypical heart rate (HR) responses to aversive stimuli have been shown to be related to SOR in ASD youth. This study aimed to compare how reported and observed measures of SOR predict HR and to examine if the level of reported behavioral inhibition in ASD youth affects how observed SOR behaviors correlate with physiological reactivity. METHODS: Participants were 54 typically developing (TD) and 83 ASD youth, ages 8-17, who completed a standardized behavioral assessment of SOR while electrocardiogram recordings were collected. Participants’ parents also reported on their child’s SOR symptoms and behavioral inhibition. RESULTS: ASD youth showed lower inter-beat-intervals (IBI; higher HR) across all auditory and tactile stimuli. For ASD youth, parent-reported SOR interacted with observed SOR to predict HR changes across the stimulation periods, indicating that ASD participants whose parents reported they had high SOR in their daily life, and showed high observed SOR in the lab assessment, exhibited reduced HR deceleration (orienting) after the onset of the stimulus and subsequent increased HR acceleration. Finally, we found that ASD participants who had lower parent-reported behavioral inhibition had a stronger correlation between observed SOR behavior and atypical HR responses. CONCLUSIONS: Results support prior findings that increased HR responses to aversive stimuli is related to both ASD and SOR. Furthermore, observed and parent-reported SOR interacted to predict HR, suggesting that a multi-method approach may best capture the extent of SOR for an individual. However, observed SOR measures may be most accurate for ASD youth who are less likely to inhibit their behavioral responses. This study illustrates the importance of integrating multiple measures of sensory reactivity to identify SOR. HR measures of sensory reactivity have the potential to serve as a biomarker of SOR across a diverse range of individuals.

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5. De Introna M, Krashia P, Sabetta A, La Barbera L, Nobili A, D’Amelio M, Cecconi F, Ammassari-Teule M, Pignataro A. Chemogenetic induction of CA1 hyperexcitability triggers indistinguishable autistic traits in asymptomatic mice differing in Ambra1 expression and sex. Transl Psychiatry;2025 (Mar 17);15(1):82.

Among the genomic alterations identified as risk factors in mice models of autism spectrum disorders (ASD), heterozygous deletion of Ambra1 (Activating Molecule in Beclin1-Regulated Autophagy) triggers an ASD phenotype associated with hippocampal hyperexcitability exclusively in the female sex although Ambra1 protein is comparably expressed in the hippocampus of symptomatic females and asymptomatic males. Given the intricate relationship between Ambra1 deficiency and sex in the etiology of ASD, we took advantage of asymptomatic mice including Ambra1(+/-) males and wild-type (Wt) mice of both sexes to investigate whether their non-pathogenic variations in Ambra1 levels could underlie a differential susceptibility to exhibit ASD-like traits in response to experimental elevation of hippocampal excitability. Here we report that selective activation of inhibitory DREADD in CA1 parvalbumin-positive interneurons (PV-IN) reduces GABAergic currents onto pyramidal neurons (PN), causes social and attentional deficits, and augments the proportion of immature/thin spines in CA1 PN dendrites to the same extent in Ambra1(+/-) males and Wt mice of both sexes. Our findings show that the substantial hippocampal variations in pro-autophagic Ambra1 gene product shown by asymptomatic mice differing in mutation and/or sex do not underlie a differential reactivity to chemogenetic induction of idiopathic ASD.

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6. Girault JB. The developing visual system: A building block on the path to autism. Dev Cogn Neurosci;2025 (Mar 12);73:101547.

Longitudinal neuroimaging studies conducted over the past decade provide evidence of atypical visual system development in the first years of life in autism spectrum disorder (ASD). Findings from genomic analyses, family studies, and postmortem investigations suggest that changes in the visual system in ASD are linked to genetic factors, making the visual system an important neural phenotype along the path from genes to behavior that deserves further study. This article reviews what is known about the developing visual system in ASD in the first years of life; it also explores the potential canalizing role that atypical visual system maturation may have in the emergence of ASD by placing findings in the context of developmental cascades involving brain development, attention, and social and cognitive development. Critical gaps in our understanding of human visual system development are discussed, and future research directions are proposed to improve our understanding of ASD as a complex neurodevelopmental disorder with origins in early brain development.

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7. Gu C, Zeng Y, Wei W, Sun J, Zhang L. Should teaching strategies emphasize emotion or competence? Enhancing audience acceptance of children with autism through online music performances – evidence from China. Acta Psychol (Amst);2025 (Mar 18);255:104923.

This study investigates the experiences and perceptions of audiences watching online music performances by children with autism, focusing on how the emotions and competence displayed by the children during the performances affect the audience’s sense of immersion and acceptance. We conducted an online survey with 949 respondents, t-tests was used to compare the differences before and after the respondents watching the performance, and structural equation modeling was used to analyzed the path relationships among variables. The results showed that audience acceptance was significantly higher after watching the music performances (t = -6.104, p < 0.05). We found that the competence demonstrated during the performances had a medium effect on both the audience's sense of immersion (β = 0.337, p < 0.05) and acceptance (β = 0.211, p < 0.05). Emotions expressed through the performances also significantly influenced the audience's immersion (β = 0.323, p < 0.05) and had a large effect on their acceptance (β = 0.401, p < 0.05). Based on these findings, we propose the Music-Driven Acceptance Model (MDAM), which suggests that while fostering the competence of children with autism, teachers might consider placing instructional emphasis on guiding children to learn methods of expressing emotions through music.

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8. Huo C, Meng C, Qian H, Li W, Shao M, Huang Y, Meng J. Altered processing of consecutive changeable emotional voices in individuals with autistic traits: behavioral and ERP studies. BMC Psychol;2025 (Mar 17);13(1):261.

BACKGROUND: Similar to individuals with autism spectrum disorder (ASD), individuals with autistic traits are expected to exhibit alterations in emotion recognition. However, many previous studies using single emotional stimuli did not observe these alterations in such individuals. Given that consecutive changeable emotional stimuli are more common in social interactions than single emotional stimuli, impaired mental processing of consecutive changeable emotions may be a key factor underlying the social interaction challenges faced by these individuals. METHODS: The present research aimed to investigate the behavioral and neural responses to consecutive changeable emotional voices in individuals with autistic traits through two studies (Study 1 and Study 2). Based on the autism-spectrum quotient (AQ) scores, participants were categorized into two groups: the High-AQ and the Low-AQ groups. In Study 1, both groups were asked to judge a single emotional voice (positive, negative, or neutral; S1) presented in each trial in Task 1, or the last presented emotional voice (S3) in a triplet of stimuli (S1-S2-S3, trains of three consecutive changeable emotional voices) in Task 2. In Study 2, both groups were instructed to passively listen to the stimulus triplet (S1-S2-S3), and event-related potential (ERP) technology was used to investigate their neural responses to each stimulus. RESULTS: No significant group difference was found in response to S1 voices in either Study 1 or Study 2. However, the High-AQ group elicited higher arousal levels (Study 1) and larger P2 amplitudes (Study 2) in response to S3 emotional voices (positive and negative) compared to the Low-AQ group. CONCLUSION: These findings reveal that individuals with autistic traits may exhibit alterations in their processing of consecutive changeable emotions in the auditory modality.

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9. Jemima DD, Selvarani AG, Lovenia JDL. Multi-view united transformer block of graph attention network based autism spectrum disorder recognition. Front Psychiatry;2025;16:1485286.

INTRODUCTION: Autism Spectrum Disorder (ASD) identification poses significant challenges due to its multifaceted and diverse nature, necessitating early discovery for operative involvement. In a recent study, there has been a lot of talk about how deep learning algorithms might improve the diagnosis of ASD by analyzing neuroimaging data. METHOD: To overrule the negatives of current techniques, this research proposed a revolutionary strategic model called the Unified Transformer Block for Multi-View Graph Attention Networks (MVUT_GAT). For the purpose of extracting delicate outlines from physical and efficient functional MRI data, MVUT_GAT combines the advantages of multi-view learning with attention processes. RESULT: With the use of the ABIDE dataset, a thorough analysis shows that MVUT_GAT performs better than Mutli-view Site Graph Convolution Network (MVS_GCN), outperforming it in accuracy by +3.40%. This enhancement reinforces our suggested model’s effectiveness in identifying ASD. The result has implications over higher accuracy metrics. Through improving the accuracy and consistency of ASD diagnosis, MVUT_GAT will help with early interference and assistance for ASD patients. DISCUSSION: Moreover, the proposed MVUT_GAT’s which patches the distance between the models of deep learning and medical visions by helping to identify biomarkers linked to ASD. In the end, this effort advances the knowledge of recognizing autism spectrum disorder along with the powerful ability to enhance results and the value of people who are undergone.

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10. Jin B, Liu Q, Tang J, Zhao Y, Xin J, Zhou Y, Cai H, Huo Z, Chen X, Bai Y. [Qihuang needle therapy for autism spectrum disorder with sleep disorder: a multi-center randomized controlled trial]. Zhongguo Zhen Jiu;2025 (Mar 12);45(3):322-326.

OBJECTIVE: To observe the clinical efficacy of Qihuang needle therapy for autism spectrum disorder (ASD) children with sleep disorder. METHODS: A total of 60 ASD children with sleep disorder were randomly divided into an observation group and a control group, 30 cases in each group. Both groups were treated with structured education intervention, 60 min each time, once a day, 6 times a week. Qihuang needle therapy was applied at Yintang (GV24(+)), Baihui (GV20) and bilateral Jueyinshu (BL14), Xinshu (BL15) in the observation group, multi-direction needling was delivered and without needle retaining. The treatment was given 2 times a week, each treatment was delivered at interval of 2 days at least. Behavioral intervention was adopted in the control group. Treatment for consecutive 12 weeks was required in both groups. Before and after treatment, the scores of children’s sleep habits questionnaire (CSHQ), the autism behavior checklist (ABC), the childhood autism rating scale (CARS), and the childhood autism behavior scale (CABS) were observed in the two groups. RESULTS: After treatment, the scores of CSHQ, ABC, CARS and CABS were decreased compared with those before treatment (P<0.01), and the above scores in the observation group were lower than those in the control group (P<0.05). CONCLUSION: Qihuang needle therapy can effectively treat ASD with sleep disorder, improve the core symptoms of ASD and the sleep quality.

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11. K VRP, Bindu CH, Rama Devi K. Optimized attention-enhanced U-Net for autism detection and region localization in MRI. Psychiatry Res Neuroimaging;2025 (Mar 14);349:111970.

Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects a child’s cognitive and social skills, often diagnosed only after symptoms appear around age 2. Leveraging MRI for early ASD detection can improve intervention outcomes. This study proposes a framework for autism detection and region localization using an optimized deep learning approach with attention mechanisms. The pipeline includes MRI image collection, pre-processing (bias field correction, histogram equalization, artifact removal, and non-local mean filtering), and autism classification with a Symmetric Structured MobileNet with Attention Mechanism (SSM-AM). Enhanced by Refreshing Awareness-aided Election-Based Optimization (RA-EBO), SSM-AM achieves robust classification. Abnormality region localization utilizes a Multiscale Dilated Attention-based Adaptive U-Net (MDA-AUnet) further optimized by RA-EBO. Experimental results demonstrate that our proposed model outperforms existing methods, achieving an accuracy of 97.29%, sensitivity of 97.27%, specificity of 97.36%, and precision of 98.98%, significantly improving classification and localization performance. These results highlight the potential of our approach for early ASD diagnosis and targeted interventions. The datasets utilized for this work are publicly available at https://fcon_1000.projects.nitrc.org/indi/abide/.

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12. Kanna RM, Prakash G, Shetty AP, Shanmuganathan R. Do all symptomatic adjacent segment diseases (ASD) require surgery? a prognostic classification and predictors of surgical treatment of lumbar ASD. Eur Spine J;2025 (Mar 18)

INTRODUCTION: Symptomatic Adjacent segment disease presents in myriad ways with varying clinic-radiological presentation but the optimal management and the factors that predict need for revision surgery are unclear. METHODOLOGY: Consecutive patients (n = 132) who experienced significant back or leg pain after an asymptomatic period (minimum 1 year) following a lumbar fusion were evaluated with dynamic radiographs and MRI. ASD was classified anatomically as proximal (86.3%), distal (12.1%, or combined (1.5%) and, sub-classified pathologically into six sub-types: Type 1: Disc prolapse (17.4%), Type 2: Disc degeneration with intra-discal instability (15.1%), Type 3: Anterolisthesis and facet instability (6.8%), Type 4: Retrolisthesis (25%), Type 5: Stenosis (21.9%) and Type 6: Combined types (13.6%). RESULTS: The mean duration between the index surgery and ASD was 5.9 ± 4.1 years. Surgery was required in 40.9% (54/132). Six factors were highly predictive of surgical treatment for ASD, viz., Diabetes mellitus (OR-4.3, p = 0.007), ASD- disc prolapse (OR 6.3, p = 0.018), ASD intra-discal instability (OR-16.8206, p = 0.003), ASD – anterolisthesis (OR - 8.2998, p = 0.043), Facet angle > 75° (OR 37.6, p = 0.02) and radiculopathy (OR 48.0, p = 0.002). Retrolisthesis was the most benign type as 84.8% patients were managed conservatively (p = 0.016). Among proximal ASD, retrolisthesis was the most common subtype (28.9%) while disc prolapse was the most common subtype in distal ASD 37.5% (p = 0.032). CONCLUSION: The study classifies the versatile clinic-radiological presentation of ASD, and identifies factors that predicted the development of the different sub-types of ASD. Knowledge about the six clinic-radiological factors that predict the need for surgical treatment in ASD is beneficial.

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13. Karin E, Zviely NB, Estrugo Y, Sabag M, Geva R. Paths to Common Ground in ASD. Autism Res;2025 (Mar 18)

Common ground (CG), the shared contextual knowledge serving everyday situations like conversations, is crucial for effective communication. This study delved into CG generation between peers with autism spectrum disorder (ASD, N = 84) compared to Controls (N = 56) children and adolescents (ages 6-16 years) paired into peer dyads. We aimed to deepen the understanding of the mechanism involved in CG efficacy among peers by exploring the roles of Theory of Mind (ToM) and Vocabulary in CG formation during play. Participants engaged in a structured task probing CG production in an ambiguous setting. Findings show that ASD and Control dyads generate CG spontaneously, yet the Control group demonstrated greater efficiency by achieving common conceptualization faster and with fewer words. Age and CG measures were correlated, outlining CG development, and Path analysis models suggested independent contributions from Vocabulary and ToM to CG efficiency. Limitations include the task’s structured nature, precluding a comprehensive assessment of language and visual perception abilities. Taken together, the findings highlight the potential for interventions targeting CG acquisition in ASD, which is crucial for daily life participation. Interventions could harness cognitive processes like vocabulary and ToM to enhance dialogue efficacy among children with ASD.

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14. Kinlin LM, Saunders NR, Carsley S, Keown-Stoneman C, Tu K, Zwaigenbaum L, Birken CS. Weight status of children and adolescents with autism spectrum disorder: A cross-sectional analysis of primary care electronic medical records and linked health administrative datasets in Ontario, Canada. Pediatr Obes;2025 (Mar 18):e70000.

BACKGROUND: Individuals with autism spectrum disorder (ASD) may be at increased risk of both obesity and underweight. OBJECTIVE: To examine the association between ASD and weight status in children and adolescents, adjusting for individual- and neighbourhood-level sociodemographic factors. METHODS: We conducted a cross-sectional study of children and adolescents ≥2 and ≤18 years old using health administrative and demographic data from Ontario, Canada. Using growth measurements from a large primary care database between 2011 and 2016, we categorized weight status using World Health Organization definitions. We defined ASD based on a previously validated algorithm. RESULTS: We included 568 children and adolescents with ASD and 32 967 without ASD. Comparing those with ASD to those without ASD, prevalence of underweight was 3.5% versus 1.9%, overweight 19.0% versus 18.2%, obesity 12.9% versus 7.3%, and severe obesity 5.8% versus 2.2%. In the fully adjusted multinomial logistic regression model, ASD remained associated with underweight (adjusted odds ratio [aOR] 2.02; 95% confidence interval [CI] 1.27-3.20), obesity (aOR 1.87; 95% CI 1.44-2.43) and severe obesity (aOR 2.62; 95% CI 1.81-3.80). CONCLUSION: Children and adolescents with ASD are at increased risk of underweight, obesity, and severe obesity, independent of sociodemographic characteristics. Strategies addressing growth and weight status are warranted in this population.

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15. Lampinen LA, Zheng S, Olson L, Bal VH, Thurm AE, Esler AN, Kanne SM, Kim SH, Lord C, Parenteau C, Nowell KP, Roberts JE, Takahashi N, Bishop SL. DSM-5 based algorithms for the Autism Diagnostic Interview-Revised for children ages 4-17 years. J Child Psychol Psychiatry;2025 (Mar 18)

BACKGROUND: The Autism Diagnostic Interview, Revised (ADI-R) is a caregiver interview that is widely used as part of the diagnostic assessment for Autism Spectrum Disorder (ASD). Few large-scale studies have reported the sensitivity and specificity of the ADI-R algorithms, which are based on DSM-IV Autistic Disorder criteria. Kim and Lord (Journal of Autism and Developmental Disorders, 2012, 42, 82) developed revised DSM-5-based toddler algorithms, which are only applicable to children under 4 years. The current study developed DSM-5-based algorithms for children ages 4-17 years and examined their performance compared to clinical diagnosis and to the original DSM-IV-based algorithms. METHODS: Participants included 2,905 cases (2,144 ASD, 761 non-ASD) from clinical-research databanks. Children were clinically referred for ASD-related concerns or recruited for ASD-focused research projects, and their caregivers completed the ADI-R as part of a comprehensive diagnostic assessment. Items relevant to DSM-5 ASD criteria were selected for the new algorithms primarily based on their ability to discriminate ASD from non-ASD cases. Algorithms were created for individuals with and without reported use of phrase speech. Confirmatory factor analysis tested the fit of a DSM-5-based two-factor structure. ROC curve analyses examined the diagnostic accuracy of the revised algorithms compared to clinical diagnosis. RESULTS: The two-factor structure of the revised ADI-R algorithms showed adequate fit. Sensitivity of the original ADI-R algorithm ranged from 74% to 96%, and specificity ranged from 38% to 83%. The revised DSM-5-based algorithms performed similarly or better, with sensitivity ranging from 77% to 99% and specificity ranging from 71% to 92%. CONCLUSIONS: In this large sample aggregated from US clinical-research sites, the original ADI-R algorithm showed adequate diagnostic validity, with poorer specificity among individuals without phrase speech. The revised DSM-5-based algorithms introduced here performed comparably to the original algorithms, with improved specificity in individuals without phrase speech. These revised algorithms offer an alternative method for summarizing ASD symptoms in a DSM-5-compatible manner.

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16. Li B, Qu Z, Wu W, Wang W. Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations. Neurogenetics;2025 (Mar 18);26(1):36.

Mutations in the DEPDC5 gene are inherited in an autosomal dominant manner and can lead to various clinical phenotypes, including focal seizures. While numerous case reports on DEPDC5 mutations exist, functional validation studies remain scarce. We analyzed seven cases of epilepsy or developmental disorders caused by DEPDC5 mutations, summarizing their clinical manifestations and conducting genetic analysis of the mutation sites. The age of onset in the seven patients ranged from 2 months to 4 years. Six mutation sites were identified, including three nonsense mutations: c.1443del (p.C481X), c.2512 C > T (p.R838X), and c.2620 C > T (p.R874X); one missense mutation: c.1140 C > A (p.F380L); and two splice-site mutations: c.2802-13 C > G (splicing) and c.4034-2 A > G (splicing). Among these, c.2512 C > T (p.R838X) and c.2620 C > T (p.R874X) had been previously reported, while the remaining mutations were novel. Minigene experiments confirmed that the c.4034-2 A > G mutation resulted in a slightly truncated protein.Focal seizures were the predominant symptom in six cases. Among the four patients with nonsense mutations, three (Cases 2, 4, and 5) exhibited drug-resistant epilepsy. Four out of seven patients responded effectively to lacosamide treatment. DEPDC5 mutations can cause focal seizures, with truncating mutations associated with more severe symptoms. Lacosamide may offer better therapeutic outcomes. The intronic mutation c.463 + 4 A > G (splicing) led to protein truncation and was determined to be pathogenic.

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17. Lim A, Young RL. Understanding Autistic Young Adults’ Perceptions and Experiences of Traumatic and Stressful Events. J Clin Psychol;2025 (Mar 18)

OBJECTIVES: The aim of this study was to explore how young autistic adults experience and respond to stressful life events, and the relationship between autistic characteristics and symptoms of stress associated with these events. METHODS: Using an exploratory sequential mixed-methods approach, an online qualitative survey was first administered to 50 autistic young adults asking about their perceptions of trauma and the role that autistic behaviours may play in their perceptions of and responses to traumatic events. Data were analysed using reflexive thematic analysis. To examine the generalisability of these findings, a quantitative survey was developed based on the themes generated and then administered to 150 autistic and 149 non-autistic young adults. RESULTS: Autistic and non-autistic participants described similar perceptions of trauma. Autistic participants reported greater interpersonal trauma exposure and more symptoms of stress than non-autistic comparisons. Among participants who experienced a DSM-5-TR traumatic event, autistic traits (as measured by select items of the Social Responsiveness Scale [SRS-2]) accounted for a combined 16.2% of the variance in PTSD symptoms (as measured by the PTSD Checklist [PCL-5]). Autistic participants highlighted that a significant factor that sets their experience apart from that of non-autistic individuals is that autism is already a challenging condition to manage. Participants identified four main ways that autism and trauma interact: (1) autism increases one’s vulnerability to experiencing a stressful event, (2) autism amplifies the impact of the trauma, (3) autistic behaviours can serve as healthy or unhealthy coping mechanisms, and (4) autism compounds barriers to receiving support. CONCLUSIONS: An overarching theme that permeated the narratives of autistic young adults was, « The autistic experience of trauma is fundamentally different. » There is thus a need for clinicians to develop thorough case conceptualisations that consider the interaction between autism and trauma when working with an autistic population.

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18. Lin IY, Morgan AC, Stave CD, Feldman HM, Huffman LC. Family Navigation for Children with Autism: A Scoping Review of Quantitative and Qualitative Evidence. J Autism Dev Disord;2025 (Mar 18)

Family navigation (FN) has emerged as a promising intervention for reducing barriers and addressing social and economic inequities in autism service delivery. Little is known regarding the implementation and effectiveness of FN for children with autism. The aims of this scoping review are to: (1) summarize the breadth, quantity, and characteristics of the existing literature on FN for children diagnosed with autism; (2) describe the models and outcomes of FN for this population; and (3) identify knowledge gaps and provide directions for future research. Authors used Arksey and O’Malley’s methodological framework for scoping reviews. Searches were conducted in PubMed, CINAHL, Embase, Social Services Abstracts, and Web of Science, resulting in identification of 308 papers. Two independent raters completed title/abstract and full-text screenings. Data was extracted using a researcher-developed tool. Results synthesis involved content and construct analysis and descriptive numerical summaries. 17 publications met inclusion criteria. Among these, seven studies evaluated FN models delivered by professional or peer navigators. Three studies investigated FN tools. The remaining seven papers included five qualitative and two mixed methods studies that provided valuable insights on improving FN programs. Overall, studies on FN models reported positive impacts on family activation and well-being, knowledge, and service access and utilization. None addressed improvements in child developmental status or behavioral profiles. FN is a promising intervention for improving family outcomes and increasing service access and utilization. Further research is needed to establish best practices, identify child- and family-centered outcome metrics, and promote scalability and sustainability.

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19. Mears K, Rai D, Shah P, Ashwin C. Obsessional thinking and autistic traits are each uniquely associated with greater traits of gender dysphoria in clinical and nonclinical adult samples. Mol Autism;2025 (Mar 17);16(1):20.

BACKGROUND: Research has demonstrated a strong relationship between autism and gender dysphoria (GD) and that this relationship could be explained by obsessional interests which are characteristic of autism. However, these studies often measured obsessions using either single items which questions the reliability of the findings, or within autistic trait measures meaning the findings may simply index a more general relationship between autistic traits and GD. Therefore, the present study aimed to investigate the relationships between obsessional thoughts and traits of GD using a measure of obsessional thoughts alongside a measure of autistic traits, which was investigated in both non-clinical and clinical samples. METHODS: A total of 145 non-clinical participants took part in Study 1 and all completed the Autism-Spectrum Quotient (AQ) as a measure of autistic traits, the Obsessive-Compulsive Inventory-Revised (OCI-R) obsessional thoughts subscale as a measure of obsessional thoughts, and the Gender-Identity/Gender-Dysphoria Questionnaire (GIDYQ) to measure traits of GD. For Study 2, a total of 226 participants took part in Study 2 and all completed the same measures as in Study 1. They included participants diagnosed with GD (N = 49), autism (N = 65), OCD (N = 46) and controls with no diagnosis (N = 66). RESULTS: The hierarchical linear regression for Study 1 showed that both total AQ and OCI-R obsessional thoughts scores were uniquely associated with GIDYQ scores, with no interaction effect between the scores. The results for Study 2, from a hierarchical linear regression, once again found that obsessional thoughts and autistic traits were each uniquely associated with GIDYQ scores, but not their interaction. The GD and autistic groups both reported significantly greater traits of GD than the OCD and control groups, with the GD group reporting higher scores than the autistic group. LIMITATIONS: Participants self-reported their diagnoses for Study 2, but diagnostic tests to verify these were not administered. Traits of GD were also measured at a single point in time, despite such traits being transient and continuous. CONCLUSIONS: The results show both obsessional thoughts and autistic traits are uniquely associated with GD, and that autistic people experience greater traits of GD than other clinical groups.

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20. Mohanakumar Sindhu VP, Brignell A, Moses M, Kallady K, Bellgrove MA, Johnson BP. Evaluating the CELF-5 Screening Test and Vineland-3 for Identifying Language Difficulties in Autism and Attention Deficit Hyperactivity Disorder. Autism Res;2025 (Mar 18)

Language screening tools are frequently used to identify children with potential undiagnosed language difficulties. These difficulties are more prevalent in autistic children and those with attention deficit hyperactivity disorder (ADHD) compared to neurotypical peers. Despite the widespread use of tools like the Clinical Evaluation of Language Fundamentals, Fifth Edition Screening Test (CELF-5 Screener) and the Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), their sensitivity and specificity for this population have not been empirically validated. This study aimed to evaluate the screening accuracy of the CELF-5 Screener and Vineland-3 in children diagnosed with autism and/or ADHD and compare their performance to the gold standard measure. The sample consisted of 132 participants (n(autism) = 25; n(ADHD) = 29, and n(autism+ADHD) = 78; M(age in years) = 9.6; % male = 59) from the Monash Autism-ADHD Genetics and Neurodevelopment Project. The sensitivity, specificity, positive predictive value, and negative predictive value of the CELF-5 Screener and Vineland-3 receptive and expressive language subdomain scores were compared against those of the clinician-administered CELF-5 receptive and expressive language composite scores. The screening accuracy of each tool was further evaluated through Receiver Operating Characteristic analyses and calculations of Youden’s J statistic. The CELF-5 Screener demonstrated poor sensitivity for receptive language difficulties (35.6%) while demonstrating high specificity (95.3%). Similarly, for expressive language difficulties, the sensitivity was low (37.9%), and the specificity was high (91.1%). The Vineland-3 showed high sensitivity (93.3%) but low specificity (48%) for expressive language difficulties and inadequate sensitivity (80.9%) and specificity (22.4%) for receptive language difficulties. Both the CELF-5 Screener and Vineland-3 may miss a significant number of children with co-occurring language difficulties related to autism and/or ADHD. Examiners must understand these tools’ strengths and limitations, especially when assessing neurodivergent children whose language development might not follow a normative trajectory.

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21. Nasir AK, Masri AT, Shaheen S, Sayles H, Nasir L. Arabic Language Autism Diagnostic Interview (ALADIN): A Validation Study. J Autism Dev Disord;2025 (Mar 18)

There is a gap in autism research from Low- and Middle-Income Countries (LMIC) where most children with autism live. This has contributed to a lack of culturally validated diagnostic instruments for autism and is a major barrier to early diagnosis, intervention, and research. The Arabic Language Autism Diagnostic Inventory (ALADIN) was developed based on the DSM-5 criteria and adapted to Arabic language and culture using primary source data. The aim of this study was to validate the Arabic Language Autism Diagnostic Inventory for the diagnostic evaluation of autism. A case-control study design was used to test the instrument for sensitivity and specificity for diagnosis of autism in children 2-5 years of age. Parents of 48 children with autism and 152 neurotypical children in Jordan completed the ALADIN. Demographic information from the participants in each group was summarized, and a Receiver Operating Curve (ROC) was fit to the data. A total score of 24 on the ALADIN had 77% sensitivity and 98% specificity for autism. The area under the curve (AUC) was 0.976, indicating strong performance in identifying children with autism. The ALADIN is the first instrument created specifically for Arab populations and is informed by cultural and linguistic data from the target population. Initial validation shows it has high diagnostic specificity for autism. Culturally informed instruments can improve access to early diagnosis and intervention and enhance autism research to improve care and outcomes in global populations.

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22. Qu H, Wang J, Shirley DJ, Gemmell HM, Christensen D, Orlando AM, Romero RA, Zielinski BA, Wang Z. Atypical Postural Control Variability and Coordination Persist Into Middle and Older Adulthood in Autism Spectrum Disorder. Autism Res;2025 (Mar 18)

Postural control deviations remain largely unexplored in middle aged and older autistic adults. With the increased prevalence of neurodegenerative conditions and heightened fall risk, precise quantification of postural variability and coordination may provide valuable insights into aging associated neuromotor deviations in autistic adults. Forty-seven autistic and 48 non-autistic individuals completed static stance, anterior-posterior (AP), and mediolateral (ML) postural sway on a force platform. Center of pressure (COP) metrics were derived and interpreted using ANCOVAs for between-group comparisons and multilinear regressions for group  ×  age interaction. Correlations between clinical measures and COP variables that differentiated groups were explored. Compared to non-autistic individuals, autistic adults exhibited greater COP standard deviation (COP(SD)) and COP trajectory length during static stance and demonstrated significant COP(SD-AP) reductions in older age. Autistic adults also exhibited decreased COP range of motion (ROM) but increased ROM variability in the target direction during dynamic stance. Autistic adults’ postural sway was jerkier during dynamic stance, and increased ROM variability during dynamic AP sway was moderately associated with lower verbal IQ in autistic adults. Our findings highlight persistent postural control deviations in middle aged and older autistic adults. Static and dynamic stance are differentially associated with unique profiles of postural control in ASD. Specifically, autistic adults demonstrated pronounced increases in postural sway variability during static stance, while reducing coordination during dynamic conditions. The extent to which postural control deviations found in autistic adults are predictive to the onset of neurodegenerative conditions and the severity of falls warrants future longitudinal research.

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23. Savaldi-Harussi G, Amter I, Stoler O, Ben-Itzhak E. The effect of Smart-Glove exchange-based system vs. PECS® on communication initiation in minimally verbal toddlers with autism spectrum disorder. Res Dev Disabil;2025 (Mar 18);160:104964.

Children with autistic spectrum disorders (ASD) show low engagement and priority of video over other activities. The Smart-Glove system is an augmentative and alternative communication tool combining video visual scene display (VVSD) with a picture exchange-based approach. This study compares the effectiveness of integrating Smart-Glove during PECS® phase 1 instructional strategy to teach independent initiation in minimally verbal toddlers with ASD. Four participants who failed to master PECS® Phase 1 over eight months at a specialized daycare were included. An alternating treatment design evaluated the relative effectiveness of Smart-Glove (VVSD and cards) versus cards only during PECS Phase 1 instruction. Percentages of independent request initiations, reaction times (RT) and social validity inventories were measured. Participants demonstrated improved independent initiations in both intervention sessions, with instances of 90 %-100 % successful independent exchanges. However, during Smart-Glove sessions, significantly higher average independent initiation, a faster learning linear trend and reduced RT reductions over time were achieved. Social validity inventories indicated satisfaction with the Smart-Glove system. Use of the Smart-Glove system improved independent request initiations, accelerated learning and increased reaction speed among minimally verbal toddlers with ASD, suggesting that integrating VVSD into PECS may be a motivational and effective instructional strategy for this subgroup.

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24. Sheldrick C. Understanding Childhood Screenings for Autism: The predictive value of screening depends on how common a condition is. Sci Am;2025 (Apr 1);332(4):78.

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25. Shi Q, Ren B, Lu X, Zhang L, Wu L, Hu L, Zhang YQ. Neural mechanisms underlying reduced nocifensive sensitivity in autism-associated Shank3 mutant dogs. Mol Psychiatry;2025 (Mar 17)

Autistic individuals carrying mutations in SHANK3 (encoding a synaptic scaffolding protein) have been consistently reported to exhibit reduced pain sensitivity. However, the neural mechanisms underlying impaired pain processing remain unclear. To investigate the role of SHANK3 in pain processing, we conducted behavioral, electrophysiological, and pharmacological tests upon nociceptive stimulation in a Shank3 mutant dog model. Behaviorally, Shank3 mutant dogs showed reduced nocifensive sensitivity compared to wild-type (WT) dogs. Electrophysiologically, Shank3 mutant dogs exhibited reduced neural responses elicited by the activations of both Aδ- and C-fiber nociceptors. Additionally, Shank3 mutants showed a lower level of aperiodic exponents, which serve as a marker for the excitatory-inhibitory balance of neural activity. The aperiodic exponents mediated the relationship between genotype and nocifensive sensitivity as well as between genotype and neural responses elicited by nociceptive stimuli. Pharmacologically, the reduced nocifensive sensitivity and atypical excitatory-inhibitory balance were rescued by a GABA(A)R antagonist pentylenetetrazole. These findings highlight the critical role of Shank3 in pain processing and suggest that an impaired excitatory-inhibitory balance may be responsible for the reduced nocifensive reactivity in autism.

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26. Souto DO, Nascimento A, Cruz TKF, de Lima AFB, Oliveira GS, Fernandes ACS, Haase VG. Assessment of the Global Integration Method on the parents’ perception of functional goals in children and adolescents with autism. Dement Neuropsychol;2025;19:e20240154.

Children with autism spectrum disorder (ASD) may experience impairments across all domains of the International Classification of Functioning, Disability, and Health. However, there is a scarcity of programs that integrate interventions encompassing all these domains. OBJECTIVE: To investigate parents’ perception of performance and satisfaction with functional goals for children with ASD after intervention with the Global Integration. METHODS: This single-group quasi-experimental study involved a total of 98 participants aged 1.8 to 18.2 years who underwent a 3-month intervention, five times a week, for 3-4 h per day. The intervention involved functional task training in an environment inspired by the natural environment associated with the use of a flexible therapeutic suit. The primary outcome measure was the Canadian Occupational Performance Measure, administered before and after the intervention. RESULTS: Ninety-five participants completed the study. Approximately 60% of participants showed improvements in performance and satisfaction that ranged from 1 to 9 points on the Canadian Occupational Performance Measure. The Global Integration Method program resulted in significant improvements in goal performance (p<0.001, d=0.80) and satisfaction (p<0.001, d=0.67). Most parents (81%) believed that the Global Integration Method incorporated aspects of family-professional collaboration and were satisfied (93%) with the intervention. CONCLUSION: In the perception of parents, the Global Integration Method demonstrated effectiveness in achieving functional goals for children with ASD and their families. Parents expressed satisfaction with the intervention and indicated that it incorporated elements of family-professional collaboration.

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27. Speranza BE, Do M, Hill AT, Donaldson PH, Enticott PG, Kirkovski M. Facial emotion processing hemispheric bias is weakly associated with handedness, autistic traits and biological sex, but not age. BMC Psychol;2025 (Mar 18);13(1):271.

BACKGROUND: Right-hemisphere brain regions are strongly implicated in facial emotion processing (FEP), a phenomenon termed right-hemispheric bias. Variability in FEP hemispheric bias is thought to underpin differences in facial emotion recognition ability and has been associated with age, handedness, biological sex, and autistic traits. However, findings from research to date investigating factors associated with FEP hemispheric bias have been inconsistent. OBJECTIVE: To examine if FEP hemispheric bias can be predicted by individual factors such as age, biological sex, handedness, and autistic traits. METHODS: 427 adults recruited from the general population aged 18-67 years completed the Autism-spectrum Quotient. We also assessed covariates previously linked with FEP hemispheric bias including age, handedness, and biological sex. FEP hemispheric bias was indexed using laterality quotients calculated from a Chimeric Faces Task, where participants indicated which of two identical (but mirrored) half-emotional half-neutral (no emotion) chimeric faces were more emotive. RESULTS: Linear regression models revealed that (1) handedness predicted FEP hemispheric choice bias, (2) the attention switching Autism-spectrum Quotient subscale predicted FEP hemispheric reaction time bias, and (3) the imagination Autism-spectrum Quotient subscale predicted FEP hemispheric reaction time bias for males, but not females. CONCLUSIONS: These findings indicate that the relationship between autistic traits and FEP hemispheric bias is nuanced. Additionally, handedness influences hemispheric bias effects during FEP. Future research should endeavour to investigate if FEP hemispheric bias is dependent on the emotion being observed and consider using more direct measures of hemispheric bias.

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28. Steinke HR. The Convergence of Autism Spectrum Disorder and Intimate Partner Violence: Implications for Clinical Practice. J Child Adolesc Trauma;2025 (Mar);18(1):23-33.

Trauma-specific care denotes best practice when working with individuals with histories of childhood abuse, maltreatment, or experiences of intimate partner violence. However, youth with autism spectrum disorder and exposure to intimate partner violence characterize a specific subpopulation of trauma-impacted individuals who present unique challenges for practitioners and researchers alike. The comorbidity of trauma and autism spectrum disorder raises a specific practice problem requiring an in-depth understanding of the complex interrelationship of childhood experiences of intimate partner violence, the associated traumatic sequelae, and the neurobiological characteristics of autism spectrum disorder. The current research on the intersectionality of intimate partner violence, trauma, and autism is limited. This paper draws attention to the practice implications of working with adolescent clients with both a history of trauma from childhood exposure to intimate partner violence and a diagnosis of autism spectrum disorder. The author utilizes a case study to contextualize presenting concerns, prioritize needs, and identify treatment outcomes. A systematized review is used to methodically review the literature on clinical interventions for youth with autism spectrum disorder and trauma. The aim is to draw attention to the gap in the literature as well as provide clinicians with a structured review of the literature on interventions for this unique population. Recommendations include research and tailored interventions to meet the developmental and concrete needs of the client in the present case study and perhaps others who are similarly situated. Clinical and research implications highlight the need for specialized care and further research to meet this underserved population.

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29. Tseng A, Francis SM, Rawls E, Conelea C, Grissom NM, Kummerfeld E, Ma S, Jacob S. Integrating causal discovery and clinically-relevant insights to explore directional relationships between autistic features, sex at birth, and cognitive abilities. Psychol Med;2025 (Mar 18);55:e89.

BACKGROUND: Access to « big data » is a boon for researchers, fostering collaboration and resource-sharing to accelerate advancements across fields. Yet, disentangling complex datasets has been hindered by methodological limitations, calling for alternative, interdisciplinary approaches to parse manifold multi-directional pathways between clinical features, particularly for highly heterogeneous autism spectrum disorder (ASD). Despite a long history of male-bias in ASD prevalence, no consensus has been reached regarding mechanisms underlying sex-related discrepancies. METHODS: Applying a novel network-theory-based approach, we extracted data-driven, clinically-relevant insights from a well-characterized sample (http://sfari.org/simons-simplex-collection) of autistic males (N = 2175, Age = 8.9 ± 3.5 years) and females (N = 334, Age = 9.2 ± 3.7 years). Expert clinical review of exploratory factor analysis (EFA) results yielded factors of interest in sensory, social, and restricted and repetitive behavior domains. To offset inherent confounds of sample imbalance, we identified a comparison subgroup of males (N = 331) matched to females (by age, IQ). We applied data-driven causal discovery analysis (CDA) using Greedy Fast Causal Inference (GFCI) on three groups (all females, all males, matched males). Structural equation modeling (SEM) extracted measures of model-fit and effect sizes for causal relationships between sex, age-at-enrollment, and IQ on EFA-determined factors. RESULTS: We identified potential targets for intervention at nodes with mediating or indirect effects. For example, in the female and matched male groups, analyses suggest mitigating RRB domain behaviors may lead to downstream reductions in oppositional and self-injurious behaviors. CONCLUSIONS: Our investigation unveiled sex-specific directional relationships that inform our understanding of differing needs and outcomes associated with biological sex in autism and may serve to further development of targeted interventions.

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30. Vidal Ceballos A, Geissmann A, Favaro DC, Deshpande P, Elbaum-Garfinkle S. RNA guanine content and G-quadruplex structure tune the phase behavior and material properties of biomolecular condensates. Sci Rep;2025 (Mar 18);15(1):9295.

RNA binding proteins (RBPs) are enriched in phase separated biomolecular assemblies across cell types. These RBPs often harbor arginine-glycine rich RGG motifs, which can drive phase separation, and can preferentially interact with RNA G-quadruplex (G4) structures, particularly in the neuron. Increasing evidence underscores the important role that RNA sequence and structure play in contributing to the form and function of protein condensates, however, less is known about the role of G4 RNAs and their interaction with RGG domains specifically. In this study we focused on the model protein, Fragile X mental retardation protein (FMRP), to investigate how G4-containing RNA sequences impact the phase behavior and material properties of condensates. FMRP is implicated in the development of Fragile X Syndrome, and is enriched in neuronal granules where it is thought to aid in mRNA trafficking and translational control. Here, we examined RNA sequences with increasing G content and G4 propensity in complex with the RGG-containing low complexity region (LCR) of FMRP. We found, that while increasing G content triggers aggregation of poly-arginine, all RNA sequences supported phase separation into liquid droplets with FMRP-LCR. Combining microrheology, and fluorescence recovery after photobleaching, we measured a moderate increase in viscosity and decrease in dynamics for increasing G-content, and detected no measurable increase in elasticity as a function of G4 structure. Additionally, we found that while methylation of FMRP decreased RNA binding affinity, this modification did not impact condensate material properties suggesting that RNA sequence/structure can play a greater role than binding affinity in determining the emergent properties of condensates. Together, this work lends much needed insight into the ways in which G-rich RNA sequences tune the assembly, dynamics and material properties of protein/RNA condensates and/or granules.

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31. Wang L, Xie Q, Hua M, Lu H. How Do Social Support and Resilience Interact in Parents of Children with ASD? A Cross-Lagged Mediation and Moderation Analysis from the COR Perspective. J Autism Dev Disord;2025 (Mar 18)

This study investigates a longitudinal cross-lagged relationship between social support and resilience among parents of autistic children within the framework of conservation of resources theory. It also examines the mediating role of active coping and conducts a group comparison between preschool-aged and school-aged children within this relationship. In total, 436 parents of autistic children aged three to fifteen years from China participated in this study. They completed the Social Support Questionnaire, the Connor-Davidson Resilience Scale, and the Coping Strategies Inventory at baseline (Time 1 [T1]) and 6 months later (Time 2 [T2]). A longitudinal cross-lagged structural equation modeling approach was applied. The findings indicated a longitudinal bidirectional relationship between social support and resilience over time, with active coping mediating this interaction. While the overall model did not significantly differ between parents of preschool- and school-aged children, the relationship between resilience at T1 and social support at T2 was significant for the school-aged group. The study highlights that social support and resilience mutually reinforce each other and that active coping serves as a key mechanism underlying this relationship. Considering the variation across age groups, this study offers implications for age-specific family services aimed at enhancing resilience and social support for parents of autistic children.

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