Pubmed du 13/01/25
1. Aizenberg D, Shalev I, Uzefovsky F, Eran A. Data-Driven Characterization of Individuals With Delayed Autism Diagnosis. JAMA Pediatr;2025 (Jan 13)
This study used various machine learning approaches to identify and comparatively characterize groups of individuals with delayed autism diagnosis. eng
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2. Albino L, Adatia A, Thiesen A, Halloran B, Dong V, Moctezuma-Velázquez C. Steatotic liver disease diagnosed in a 24-year-old woman with Rett syndrome: a case report. J Int Med Res;2025 (Jan);53(1):3000605241310158.
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the MECP2 gene, potentially disrupting lipid metabolism and leading to dyslipidemia (DLD) and steatotic liver disease (SLD). Although SLD has been described in RTT mouse models, it remains undocumented in humans. We herein describe a 24-year-old woman with RTT who was evaluated for abnormal liver enzymes. Imaging revealed hepatic steatosis, and transient elastography showed a controlled attenuation parameter of 342 dB/m and stiffness of 7.1 kPa. Laboratory investigations excluded secondary causes, including insulin resistance, metabolic syndrome, alcohol use, and new medications. Her Homeostatic Model Assessment for Insulin Resistance score was 1.8, her hemoglobin A1c concentration was 4.8%, and her lipid profile showed elevated triglycerides and low-density lipoprotein, consistent with DLD. Liver biopsy confirmed SLD. This case supports the hypothesis that MECP2 mutations in RTT disrupt lipid metabolism through a unique pathophysiologic mechanism, increasing the risk of DLD and SLD independently of traditional metabolic syndrome factors. It highlights the importance of early screening for liver disease in patients with RTT, despite their young age, to prevent complications. Additionally, it validates MECP2-null mouse models as reliable tools for investigating future therapeutic strategies in RTT.
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3. Barber W, Aslan B, Meynen T, Marsden J, Chamberlain SR, Paleri V, Sinclair JMA. Alcohol use among populations with autism spectrum disorder: narrative systematic review. BJPsych Open;2025 (Jan 13);11(1):e15.
BACKGROUND: Alcohol use in autism spectrum disorder (ASD) is under-researched. Previous reviews have explored substance use as a whole, but this neglects individual characteristics unique to different substances. Alcohol use in non-clinical samples is associated with diverse responses. To advance practice and policy, an improved understanding of alcohol use among people with ASD is crucial to meet individual needs. AIMS: This was a narrative systematic review of the current literature on the association between alcohol use and ASD, focusing on aetiology (biological, psychological, social and environmental risk factors) and implications (consequences and protective factors) of alcohol use in autistic populations who utilise clinical services. We sought to identify priority research questions and offer policy and practice recommendations. METHOD: PROSPERO Registration: CRD42023430291. The search was conducted across five databases: CINAHL, EMBASE, MEDLINE, PsychINFO and Global Health. Included studies explored alcohol use and ASD within clinical samples. RESULTS: A total of 22 studies was included in the final review. The pooled prevalence of alcohol use disorder in ASD was 1.6% and 16.1% in large population registers and clinical settings, respectively. Four components were identified as possible aetiological risk factors: age, co-occurring conditions, gender and genetics. We identified ten implications for co-occurring alcohol use disorder in ASD, summarised as a concept map. CONCLUSION: Emerging trends in the literature suggest direction and principles for research and practice. Future studies should use a standardised methodological approach, including psychometrically validated instruments and representative samples, to inform policy and improve the experience for autistic populations with co-occurring alcohol use.
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4. Cezar LC, da Fonseca CCN, Klein MO, Kirsten TB, Felicio LF. Prenatal Valproic Acid Induces Autistic-Like Behaviors in Rats via Dopaminergic Modulation in Nigrostriatal and Mesocorticolimbic Pathways. J Neurochem;2025 (Jan);169(1):e16282.
Autism spectrum disorder (ASD) is a complex developmental disorder characterized by several behavioral impairments, especially in socialization, communication, and the occurrence of stereotyped behaviors. In rats, prenatal exposure to valproic acid (VPA) induces autistic-like behaviors. Previous studies by our group have suggested that the autistic-like phenotype is possibly related to dopaminergic system modulation because tyrosine hydroxylase (TH) expression was affected. The objective of the present study was to understand the dopaminergic role in autism. Wistar rats on gestational day 12.5 received VPA (400 mg/kg) and behaviors related to rat models of ASD were evaluated in juvenile offspring. Neurochemical and genetic dopaminergic components were studied in different brain areas of both juvenile and adult rats. Prenatal VPA-induced autistic-like behaviors in comparison to a control group: decreased maternal solicitations by ultrasonic vocalizations, cognitive inflexibility and stereotyped behavior in the T-maze test, decreased social interaction and play behavior, as well as motor hyperactivity. Prenatal VPA also decreased dopamine synthesis and activity in the striatum and prefrontal cortex, as well as dopamine transporter, D1 and D2 receptors, and TH expressions. Moreover, prenatal VPA increased TH+ immunoreactive neurons of the ventral tegmental area-substantia nigra complex. In conclusion, the dopaminergic hypoactivity associated with the behavioral impairments exhibited by the rats that received prenatal VPA suggests the important role of this system in the establishment of the characteristic symptoms of ASD in juvenile and adult males. Dopamine was demonstrated to be an important biomarker and a potential pharmacological target for ASD.
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5. Chen H, Feng F, Lou P, Li Y, Zhang M, Zhao F. Prob-sparse self-attention extraction of time-aligned dynamic functional connectivity for ASD diagnosis. Heliyon;2025 (Jan 15);11(1):e41120.
Dynamic functional connectivity (DFC) has shown promise in the diagnosis of Autism Spectrum Disorder (ASD). However, extracting highly discriminative information from the complex DFC matrix remains a challenging task. In this paper, we propose an ASD classification framework PSA-FCN which is based on time-aligned DFC and Prob-Sparse Self-Attention to address this problem. Specifically, we introduce Prob-Sparse Self-Attention to selectively extract global features, and use self-attention distillation as a transition at each layer to capture local patterns and reduce dimensionality. Additionally, we construct a time-aligned DFC matrix to mitigate the time sensitivity of DFC and extend the dataset, thereby alleviating model overfitting. Our model is evaluated on fMRI data from the ABIDE NYU site, and the experimental results demonstrate that the model outperforms other methods in the paper with a classification accuracy of 81.8 %. Additionally, our research findings reveal significant variability in the DFC connections of brain regions of ASD patients, including Cuneus (CUN), Lingual gyrus (LING), Superior occipital gyrus (SOG), Posterior cingulate gyrus (PCG), and Precuneus (PCUN), which is consistent with prior research. In summary, our proposed PSA framework shows potential in ASD diagnosis as well as automatic discovery of critical ASD-related biomarkers.
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6. Dell’Osso L, Amatori G, Bonelli C, Nardi B, Massimetti E, Cremone IM, Pini S, Carpita B. Autism spectrum disorder, social anxiety and obsessive-compulsive disorders: beyond the comorbidity. BMC Psychiatry;2025 (Jan 13);25(1):37.
OBJECTIVE: Autism spectrum disorder (ASD) is characterized by high rates of comorbidity with other mental disorders, including anxiety disorders and obsessive-compulsive disorder. Beyond a mere concept of comorbidity, recent literature is speculating the existence of a neurodevelopmental nature of such mental disorders. The aim of the study is to investigate the distribution of social-phobic, obsessive-compulsive and panic-agoraphobic traits within a sample of individuals with ASD, social anxiety disorder (SAD), obsessive-compulsive disorder (OCD) and panic disorder (PD). METHODS: 40 participants with ASD, 40 with SAD, 40 with OCD, 40 with PD and 50 HC were assessed with the Social Anxiety Spectrum-Short Version (SHY-SV) questionnaire, the Obsessive-Compulsive Spectrum-Short Version (OBS-SV) questionnaire and the Panic Agoraphobic Spectrum-Short Version (PAS-SV) questionnaire. Statistical analyses included Kruskal-Wallis test and Chi-square test. RESULTS: When analyzing SHY-SV scores, the SAD group obtained the highest scores, with individuals with ASD following closely, significantly surpassing the scores of the remaining diagnostic groups. In the examination of OBS-SV questionnaire scores, individuals with ASD once again secured the second-highest scores, trailing only the OCD group. These scores were notably higher than those of both the PD group and healthy controls. In the analysis of PAS-SV scores, the ASD group once again achieved the highest scores after the PD individuals, although this time the difference was not statistically significant compared to the other diagnostic groups. DISCUSSION: These findings highlight the central role of the autism spectrum in SAD and OCD diagnoses. They provide support for the hypotheses of a neurodevelopmental basis for social anxiety and OCD, contributing to the growing body of evidence supporting a dimensional and interconnected view of mental health conditions.
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7. Fazioli L, Hadad BS, Denison RN, Yashar A. Suboptimal but intact integration of Bayesian components during perceptual decision-making in autism. Mol Autism;2025 (Jan 13);16(1):2.
BACKGROUND: Alterations in sensory perception, a core phenotype of autism, are attributed to imbalanced integration of sensory information and prior knowledge during perceptual statistical (Bayesian) inference. This hypothesis has gained momentum in recent years, partly because it can be implemented both at the computational level, as in Bayesian perception, and at the level of canonical neural microcircuitry, as in predictive coding. However, empirical investigations have yielded conflicting results with evidence remaining limited. Critically, previous studies did not assess the independent contributions of priors and sensory uncertainty to the inference. METHOD: We addressed this gap by quantitatively assessing both the independent and interdependent contributions of priors and sensory uncertainty to perceptual decision-making in autistic and non-autistic individuals (N = 126) during an orientation categorization task. RESULTS: Contrary to common views, autistic individuals integrated the two Bayesian components into their decision behavior, and did so indistinguishably from non-autistic individuals. Both groups adjusted their decision criteria in a suboptimal manner. LIMITATIONS: This study focuses on explicit priors in a perceptual categorization task and high-functioning adults. Thus, although the findings provide strong evidence against a general and basic alteration in prior integration in autism, they cannot rule out more specific cases of reduced prior effect – such as due to implicit prior learning, particular level of decision making (e.g., social), and level of functioning of the autistic person. CONCLUSIONS: These results reveal intact inference for autistic individuals during perceptual decision-making, challenging the notion that Bayesian computations are fundamentally altered in autism.
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8. Fischer J, Alders M, Mannens M, Genevieve D, Hackmann K, Schröck E, Sadikovic B, Porrmann J. Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature. Clin Epigenetics;2025 (Jan 13);17(1):5.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features. This highlights the utility of episignatures in variant interpretation, as well as a potential novel diagnostic approach in unsolved cases or for disease prognosis.
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9. Floris DL, Llera A, Zabihi M, Moessnang C, Jones EJH, Mason L, Haartsen R, Holz NE, Mei T, Elleaume C, Vieira BH, Pretzsch CM, Forde NJ, Baumeister S, Dell’Acqua F, Durston S, Banaschewski T, Ecker C, Holt RJ, Baron-Cohen S, Bourgeron T, Charman T, Loth E, Murphy DGM, Buitelaar JK, Beckmann CF, Langer N. A multimodal neural signature of face processing in autism within the fusiform gyrus. Nat Ment Health;2025;3(1):31-45.
Atypical face processing is commonly reported in autism. Its neural correlates have been explored extensively across single neuroimaging modalities within key regions of the face processing network, such as the fusiform gyrus (FFG). Nonetheless, it is poorly understood how variation in brain anatomy and function jointly impacts face processing and social functioning. Here we leveraged a large multimodal sample to study the cross-modal signature of face processing within the FFG across four imaging modalities (structural magnetic resonance imaging (MRI), resting-state functional magnetic resonance imaging, task-functional magnetic resonance imaging and electroencephalography) in 204 autistic and nonautistic individuals aged 7-30 years (case-control design). We combined two methodological innovations-normative modeling and linked independent component analysis-to integrate individual-level deviations across modalities and assessed how multimodal components differentiated groups and informed social functioning in autism. Groups differed significantly in a multimodal component driven by bilateral resting-state functional MRI, bilateral structure, right task-functional MRI and left electroencephalography loadings in face-selective and retinotopic FFG. Multimodal components outperformed unimodal ones in differentiating groups. In autistic individuals, multimodal components were associated with cognitive and clinical features linked to social, but not nonsocial, functioning. These findings underscore the importance of elucidating multimodal neural associations of social functioning in autism, offering potential for the identification of mechanistic and prognostic biomarkers.
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10. Gonzalez D, Jonak CR, Bernabucci M, Molinaro G, Collins K, Assad SA, Gibson JR, Binder DK, Huber KM. Enhanced CB1 receptor function in GABAergic neurons mediates hyperexcitability and impaired sensory-driven synchrony of cortical circuits in Fragile X Syndrome model mice. bioRxiv;2025 (Jan 2)
Electroencephalographic (EEG) recordings in individuals with Fragile X Syndrome (FXS) and the mouse model of FXS ( Fmr1 KO) display cortical hyperexcitability at rest, as well as deficits in sensory-driven cortical network synchrony. A form of circuit hyperexcitability is observed in ex vivo cortical slices of Fmr1 KO mice as prolonged persistent activity, or Up, states. It is unknown if the circuit mechanisms that cause prolonged Up states contribute to FXS-relevant EEG phenotypes. Here we examined the role of endocannabinoids (eCB) in prolonged Up states in slices and resting and sensory-driven EEG phenotypes in awake Fmr1 KO mice. Bidirectional changes in eCB function are reported in the Fmr1 KO that depend on synapse type (excitatory or inhibitory). We demonstrate that pharmacological or genetic reduction of Cannabinoid Receptor 1 (CB1R) in GABAergic neurons rescues prolonged cortical Up states and deficits in sensory-driven cortical synchrony in Fmr1 KO mice. In support of these findings, recordings from Fmr1 KO cortical Layer (L) 2/3 pyramidal neurons revealed enhanced CB1R-mediated suppression of inhibitory synaptic currents. In contrast, genetic reduction of Cnr1 in glutamatergic neurons did not affect Up state duration, but deletion of Fmr1 in the same neurons was sufficient to cause long Up states. These findings support a model where loss of Fmr1 in glutamatergic neurons leads to enhanced CB1R-mediated suppression of GABAergic synaptic transmission, prolonged cortical circuit activation and reduced sensory-driven circuit synchronization. Results suggest that antagonism of CB1Rs as a therapeutic strategy to correct sensory processing deficits in FXS.
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11. Hesami E, Bakhshani NM, Dahouie MA, Zaheri Y. Evaluation of the effectiveness of a serious game titled « Kookism » on the receptive lexicon in 4-9-year-old autistic children. Heliyon;2025 (Jan 15);11(1):e41036.
BACKGROUND: Autistic children often face difficulties with semantic skills such as receptive lexicon. Games based on behavioral principles have been emphasized for treating autistic children. Serious Games are a new and effective way to alleviate deficits in autistic children. OBJECTIVES: The present study aimed to design and investigate the efficiency of a Serious Game titled « Kookism » on the receptive lexicon of autistic children. METHODS: The empirical study with a pretest-posttest design, and a two-months follow-up, involved 30 children (aged 4-9) at Birjand and Zahedan, Iran. The participants were selected by convenience sampling and randomly divided into experimental and control groups (each 15 participants). The control group received the Applied Behavior Analysis (ABA), while the experimental group received a treatment consisting of the ABA plus the « Kookism » game. The 20-min sessions were held every other day for two months. Data were collected using MacArthur-Bates Communicative Development Inventories. After confirming the essential assumptions for the covariance analysis, ANCOVA was used to analyze the data. RESULTS: The findings showed a significant difference between the experimental and control groups in the increase in the participants’ receptive lexicon after eliminating the effects of the covariate (p < 0.05). Two months later, there was no statistically significant difference. (P = 0.144, F = 0.077, p > 0.05). CONCLUSIONS: The findings of this study indicate that Serious Games significantly improved the receptive lexicon of autistic children. This result remained for up to two months.
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12. Navas P, Arias VB, Vicente E, Esteban L, Guillén VM, Alvarado N, Heras I, Rumoroso P, García-Domínguez L, Verdugo M. Empowering lives: How deinstitutionalization and community living improve the quality of life of individuals with intellectual and developmental disabilities. Res Dev Disabil;2025 (Jan 11);157:104909.
BACKGROUND: The number of people with intellectual and developmental disabilities (IDD) living in residential settings has not changed substantially in recent years in Spain. To change this situation the project « My House: A Life in the Community » aims to promote the transition of individuals with IDD and high support needs into community settings. AIMS: This paper deepens the understanding of the underlying mechanisms responsible for the changes observed in the process of deinstitutionalization. METHODS: A longitudinal study was designed to evaluate the quality of life of individuals with IDD (n = 90) across different environments at two distinct time points: when they were living in an institution and nine months after transitioning to a community-based setting. A comparison group (n = 72) consisting of individuals who remained institutionalized was included to carry out intergroup comparisons. T-tests were used to estimate mean differences both between and within groups. Longitudinal path models were used to investigate the processes underlying the relationships between variables. RESULTS: After transition, movers obtained significantly higher mean scores on all variables with large or very large effect sizes. However, simply moving to a different place was not the factor responsible for the observed improvements: positive changes in quality of life require the constant availability of opportunities to support decision making. IMPLICATIONS: deinstitutionalization will only lead to improvements in quality of life if it favors people’s control over their lives. Community living should therefore be understood not as an autonomous life but as a chosen one.
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13. Persichetti AS, Li TL, Stevens WD, Martin A, Gilmore AW. Atypical scene-selectivity in the retrosplenial complex in individuals with autism spectrum disorder. bioRxiv;2024 (Dec 17)
A small behavioral literature on individuals with autism spectrum disorder (ASD) has shown that they can be impaired when navigating using map-based strategies (i.e., memory-guided navigation), but not during visually guided navigation. Meanwhile, there is neuroimaging evidence in typically developing (TD) individuals demonstrating that the retrosplenial complex (RSC) is part of a memory-guided navigation system, while the occipital place area (OPA) is part of a visually-guided navigation system. A key identifying feature of the RSC and OPA is that they respond significantly more to pictures of places compared to faces or objects – i.e., they demonstrate scene-selectivity. Therefore, we predicted that scene-selectivity would be weaker in the RSC of individuals with ASD compared to a TD control group, while the OPA would not show such a difference between the groups. We used functional MRI to scan groups of ASD individuals and matched TD individuals while they viewed pictures of places and faces and performed a one-back task. As predicted, scene-selectivity was significantly lower in the RSC, but not OPA, in the ASD group compared to the TD group. These results suggest that impaired memory-guided navigation in individuals with ASD may, in part, be due to atypical functioning in the RSC. LAY SUMMARY: The retrosplenial complex (RSC), a cortical region that is part of a neural system that supports our ability to form map-like mental representations of the environment and use them to navigate (i.e., memory-guided navigation), exhibits atypical responses to images of places in individuals with autism spectrum disorder (ASD). These results are a first step towards understanding the neural mechanisms responsible for understudied behavioral impairments in memory-guided navigation in individuals with ASD.
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14. Ramadan QM, Sabaghi A, Heirani A. Focusing Attention to Improve Throwing Skills in Children With Autism Spectrum Disorder: Exploring the Influence of Working Memory. Occup Ther Int;2025;2025:8855971.
This study is aimed at investigating the impact of internal and external attention focus on learning a throwing skill in children with autism, as well as the relationship between working memory and learning rate. Twenty-four children aged 6-8 years with autism were assigned to internal and external attention groups. Participants performed a throwing task while their working memory was assessed using Cornoldi’s working memory test. The data was analyzed using ANOVA with repeated measures involving two attention instructions and five blocks during the acquisition stage. An independent t-test was conducted during the retention phase. Furthermore, a Pearson correlation test was utilized to explore any potential relationship between working memory and performance in both the acquisition and retention stages. Data analysis revealed no significant difference between the internal and external attention groups during the acquisition phase (p > 0.05), but a significant difference was found in the retention phase (p < 0.05). There was no correlation between working memory and learning outcomes (p > 0.05). The results suggest that internal attention may enhance motor learning in children with autism, and reducing working memory load does not necessarily favor external attention.
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15. Roberts K, Rankin PM. A cognitive help or hindrance? A systematic review of cognitive behavioural therapy to treat anxiety in young people with autism spectrum disorder. Clin Child Psychol Psychiatry;2025 (Jan 13):13591045251314906.
OBJECTIVE: Anxiety rates amongst autistic youth range from 11% to 84%. While Cognitive Behavioural Therapy (CBT) is an effective treatment of anxiety in neurotypical youth, there are concerns autistic youth lack the cognitive resources necessary to effectively engage with CBT. It is also unclear whether standard or adapted CBT is more effective. This review aims to compare the effects of standard and adapted CBT in the treatment of anxiety in autistic youth. METHODS: Articles were searched across three online databases. 24 articles were selected for final review. All articles were published between 2008 and 2024. Total sample size was 1,140 and participant age ranged from 4-18 years. Various designs, settings, and CBT formats were incorporated. RESULTS: When treating anxiety in autistic youth, standard CBT is effective although CBT adapted to accommodate the autism-related needs of the youth appears more effective, with gains maintained up to 26 months post-treatment. Statistical analysis was not significant. CONCLUSIONS: Standard and adapted CBT are effective treatments of anxiety in autistic youth. To optimise outcomes, it may be important to consider the common cognitive styles associated with autism and adapt the therapeutic intervention accordingly. However, there is not yet statistical evidence for this hypothesis. A review of studies investigating the use of Cognitive Behavioural Therapy to treat anxiety in young people with Autism Spectrum Disorder: Why was this review done? Up to 84% of autistic youth have anxiety. Cognitive Behavioural Therapy (CBT) is often used to treat anxiety in youth without autism. However, there are concerns autistic youth lack the thinking processes necessary to effectively engage with CBT. It is also unclear whether standard or adapted CBT is more effective. This review therefore aims to compare the effects of standard and adapted CBT in the treatment of anxiety in autistic youth. What did the researchers do? Three online databases were used to find relevant studies for review. 24 studies were included in the final review. All studies were published between 2008 and 2024 and involved 1,140 participants overall. Participant age ranged from 4-18 years. Different study designs, settings, and CBT formats were included. What did the researchers find? CBT can help reduce anxiety in autistic young people. Greatest treatment effects may be found when the CBT has been adapted to suit the specific autism-related needs of the youth, and these effects can last up to 26 months post-treatment. Statistical analysis between standard and adapted CBT however did not show any significant differences. What do the findings mean? CBT helps to reduce anxiety in autistic youth. To achieve the greatest treatment effects, it may be important to adapt the CBT to suit the thinking processes of the autistic young people. However, there is not yet statistical evidence for this hypothesis. eng
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16. Saleh C, Budincevic H. Carotid intima-media thickness and autism spectrum disorder. Int J Dev Disabil;2024;70(7):1123-1125.
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17. Tanaka H, Miyamoto K, Hamet Bagnou J, Prigent E, Clavel C, Martin JC, Nakamura S. Analysis of Social Performance and Action Units During Social Skills Training: Focus Group Study of Adults With Autism Spectrum Disorder and Schizophrenia. JMIR Form Res;2025 (Jan 10);9:e59261.
BACKGROUND: Social communication is a crucial factor influencing human social life. Quantifying the degree of difficulty faced in social communication is necessary for understanding developmental and neurological disorders and for creating systems used in automatic symptom screening and assistive methods such as social skills training (SST). SST by a human trainer is a well-established method. Previous SST used a modified roleplay test to evaluate human social communication skills. However, there are no widely accepted evaluation criteria or social behavioral markers to quantify social performance during SST. OBJECTIVE: This paper has 2 objectives. First, we propose applying the Social Performance Rating Scale (SPRS) to SST data to measure social communication skills. We constructed a Japanese version of the SPRS already developed in English and French. Second, we attempt to quantify action units during SST for people with autism spectrum disorder (ASD) or schizophrenia. METHODS: We used videos of interactions between trainers, adults with ASD (n=16) or schizophrenia (n=15), and control participants (n=19) during SST sessions. Two raters applied the proposed scale to annotate the collected data. We investigated the differences between roleplay tasks and participant groups (ASD, schizophrenia, and control). Furthermore, the intensity of action units on the OpenFace toolkit was measured in terms of mean and SD during SST roleplaying. RESULTS: We found significantly greater gaze scores in adults with ASD than in adults with schizophrenia. Differences were also found between the ratings of different tasks in the adults with schizophrenia and the control participants. Action units numbered AU06 and AU12 were significantly deactivated in people with schizophrenia compared with the control group. Moreover, AU02 was significantly activated in people with ASD compared with the other groups. CONCLUSIONS: The results suggest that the SPRS can be a useful tool for assessing social communication skills in different cultures and different pathologies when used with the modified roleplay test. Furthermore, facial expressions could provide effective social and behavioral markers to characterize psychometric properties. Possible future directions include using the SPRS for assessing social behavior during interaction with a digital agent.
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18. Tao R, Yang Y, Wilson M, Chang JR, Liu C, Sit CHP. Comparative effectiveness of physical activity interventions on cognitive functions in children and adolescents with Neurodevelopmental Disorders: a systematic review and network meta-analysis of randomized controlled trials. Int J Behav Nutr Phys Act;2025 (Jan 13);22(1):6.
BACKGROUND: Physical activity (PA) interventions have been shown to yield positive effects on cognitive functions. However, it is unclear which type of PA intervention is the most effective in children and adolescents with Neurodevelopmental Disorders (NDDs). This study aimed to compare the effectiveness of different types of PA interventions on cognitive functions in children and adolescents with NDDs, with additional analyses examining intervention effects across specific NDD types including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). METHODS: In this systematic review and network meta-analysis, seven databases (Web of Science, PubMed, Medline, APA PsycINFO, Embase, CINAHL, and SPORTDiscus) for randomized controlled trials from database inception to September 2023 were searched. Randomized controlled trials comparing the effectiveness of PA intervention with any non-pharmacological treatment or control group on cognitive functions in children and adolescents diagnosed with NDDs aged 5-17 years were included. Frequentist network meta-analyses were performed based on standardized mean differences (SMD) using random effects models to examine post-intervention differences in cognitive functions, including attention, memory, and executive functions. Intervention dropout was assessed as a measure of treatment acceptability. RESULTS: Thirty-one randomized controlled trials (n = 1,403, mean age 10.0 ± 1.9 years) with 66 arms were included in the network. Mind-body exercise (MBE; SMD = 1.91 for attention; 0.92 for executive functions), exergaming (SMD = 1.58 for attention; 0.97 for memory; 0.94 for executive functions), and multi-component physical activity (MPA; SMD = 0.79 for executive functions) were associated with moderate to substantial cognitive improvements compared with usual care, whereas the effectiveness of aerobic exercise (AE) was non-significant. Exergaming (SMD = 0.78, 95%CI 0.12 to 1.45) and MPA (SMD = 0.64, 95%CI 0.11 to 1.18) were more effective than AE for executive functions. When analyzing specific NDD types, exergaming lost its superiority over usual care for attention and memory in ADHD, nor for executive functions in ASD. Instead, MPA demonstrated significant benefits across these domains and populations. The certainty of evidence for these comparisons was very low to low. No significant differences in acceptability were observed among MBE, exergaming, and MPA. CONCLUSIONS: The findings in this study suggest that MBE, exergaming, and MPA were effective interventions for improving domain-specific cognitive functions in children and adolescents with NDDs. AE demonstrated non-significant effectiveness for all outcomes. MBE emerges as particularly advantageous for attention. MPA yielded consistent improvements in memory and executive functions across NDD types. Further high-quality randomized controlled trials of direct comparisons are needed to confirm and expand on the findings from this NMA. TRIAL REGISTRATION: PROSPERO CRD42023409606.
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19. Wachtel L, Luccarelli J, Falligant JM, Smith JR. Electroconvulsive therapy in autism spectrum disorders: an update to the literature. Curr Opin Psychiatry;2024 (Dec 23)
PURPOSE OF REVIEW: Over the last quarter century, the clinical evidence surrounding the use of electroconvulsive therapy (ECT) in individuals with autism spectrum disorder (ASD) has expanded. This review provides the most up-to-date findings on the usage of ECT in ASD and discusses these results within the historical context and direct patient care experience. RECENT FINDINGS: ECT is typically implemented for psychotropic-refractory catatonic, affective, psychotic, and combined pathology for individuals across the lifespan. Although highly stigmatized, ECT is well tolerated, efficacious, and potentially lifesaving for select individuals. A case presentation of an individual with autism as well as a summary of legal restrictions hampering his ECT access is presented. SUMMARY: ECT is increasingly used in individuals with ASD who present with a wide range of ECT-responsive psychopathology, as well as repetitive self-injury and late, autistic-like regression for which no cause is found. ECT is well tolerated and offers real hope for many ASD individuals with devastating, treatment-refractory conditions.
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20. Waite M, Fouladi RT, Iarocci G. Autistic Girls but Not Boys Show a Strong Association Between Internalizing Symptoms and Social Motivation. J Autism Dev Disord;2025 (Jan 13)
The current study examined the associations between internalizing symptoms, social motivation, and gender among autistic and non-autistic youth. Caregivers of 386 participants age 6 to 14 years completed measures of their child’s internalizing symptoms and social motivation. Correlation and hierarchical regression analyses were conducted to compare internalizing symptoms and social motivation across autistic and non-autistic girls and boys. Social motivation was found to be higher among non-autistic participants compared to autistic participants, with no significant gender differences observed in social motivation within groups. Social motivation was found to be a significant predictor of internalizing symptoms. The association between social motivation and internalizing symptoms varied by gender and diagnostic status. Higher internalizing symptom scores were associated with lower social motivation among autistic girls, non-autistic girls, and non-autistic boys, but no association was found among autistic boys. The current study found that the relations between social motivation and anxiety, depression, and somatization symptoms in autistic youth varied by gender. The strong association between internalizing symptoms and social motivation among autistic girls and not autistic boys may be due to the unique social experiences and expectations associated with the intersecting gender and neurodivergent identities of autistic girls. The findings of the current study underscore the value of adopting an intersectionality perspective by considering both the influence of gender and neurodivergent identities together when addressing the social experiences and mental health of autistic youth.
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21. Wang J, Zhang L, Chen S, Xue H, Du M, Xu Y, Liu S, Ming D. Individuals with high autistic traits exhibit altered interhemispheric brain functional connectivity patterns. Cogn Neurodyn;2025 (Dec);19(1):9.
Individuals with high autistic traits (AT) encounter challenges in social interaction, similar to autistic persons. Precise screening and focused interventions positively contribute to improving this situation. Functional connectivity analyses can measure information transmission and integration between brain regions, providing neurophysiological insights into these challenges. This study aimed to investigate the patterns of brain networks in high AT individuals to offer theoretical support for screening and intervention decisions. EEG data were collected during a 4-min resting state session with eyes open and closed from 48 participants. Using the Autism Spectrum Quotient (AQ) scale, participants were categorized into the high AT group (HAT, n = 15) and low AT groups (LAT, n = 15). We computed the interhemispheric and intrahemispheric alpha coherence in two groups. The correlation between physiological indices and AQ scores was also examined. Results revealed that HAT exhibited significantly lower alpha coherence in the homologous hemispheres of the occipital cortex compared to LAT during the eyes-closed resting state. Additionally, significant negative correlations were observed between the degree of AT (AQ scores) and the alpha coherence in the occipital cortex, as well as in the right frontal and left occipital regions. The findings indicated that high AT individuals exhibit decreased connectivity in the occipital region, potentially resulting in diminished ability to process social information from visual inputs. Our discovery contributes to a deeper comprehension of the neural underpinnings of social challenges in high AT individuals, providing neurophysiological signatures for screening and intervention strategies for this population.
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22. Wang LL, Gao Y, Yan C, Hu HX, Lui SSY, Wang Y, Chan RCK. Characterizing the Profile of Anhedonia in Individuals With Schizotypal Traits, Subthreshold Depression and Autistic Traits. Psych J;2025 (Jan 12)
Anhedonia is believed to be transdiagnostic symptom exist in various disorders including schizophrenia, major depressive disorder, and autism spectrum disorder. However, very few studies attempted to profile subclinical samples with schizophrenia, depressive, and autistic symptoms using measures of anhedonia scales. This study adopted a cluster analytical approach to examine the anhedonia profile in 46 individuals with schizotypal trait (ST), 43 subthreshold depression (SD), 27 autistic trait (AT), and 41 healthy controls. They completed a set of checklists capturing different dimensions of anhedonia including the anticipatory and consummatory interpersonal pleasure scale, the temporal experience of pleasure scale, the motivation and pleasure scale and the belief about pleasure scale. Cluster analysis was conducted on these measures among the merged sample of ST, SD, and AT. To validate the clusters, we administered measures on nonsocial reward processing, self-reported empathy, and social functioning. A three-cluster solution was found to be the best fit. Cluster 1 (n = 48) showed high pleasure experience, motivation, and belief about pleasure and spread evenly across three groups. Cluster 2 (n = 31) was characterized by low levels of anticipatory and consummatory pleasure specifically for the social domain, largely comprised of individuals with ST. Cluster 3 (n = 37) showed low levels of consummatory pleasure, motivation, and belief about pleasure, largely comprised of individuals with SD. The resultant clusters differed in social process and functioning. The current findings suggested distinct anhedonia subtypes within different subclinical populations. These findings may have implications for early detection and prevention for anhedonia.
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23. Xiao J, Ming Y, Li L, Huang X, Zhou Y, Ou J, Kou J, Feng R, Ma R, Zheng Q, Shan X, Meng Y, Liao W, Zhang Y, Wang T, Kuang Y, Cao J, Li S, Lai H, Chen J, Wang Q, Dong X, Kang X, Chen H, Menon V, Duan X. Personalized theta-burst stimulation enhances social skills in young minimally verbal children with autism: a double-blind randomized controlled trial. Biol Psychiatry;2025 (Jan 10)
BACKGROUND: Minimally verbal children with autism are understudied and lack effective treatment options. Personalized continuous theta-burst stimulation (cTBS) targeting the amygdala and its circuitry may be a potential therapeutic approach for this population. METHODS: In a double-blind randomized controlled trial, minimally verbal children with autism (ages 2-8 years) received 4 weeks of cTBS. An amygdala-optimized functional connectivity (AOFC) group (N=23) received personalized stimulation targeting a left dorsolateral prefrontal cortex site functionally connected with the amygdala. A non-optimized (NO) control group (N=21) received stimulation at a standard prefrontal site. We assessed changes in Autism Diagnostic Observation Schedule scores, amygdala volume, spontaneous neural activity, and functional connectivity. RESULTS: Personalized AOFC-guided cTBS improved social and communication skills with an effect size twice that of the NO group (Cohen’s d = 0.55 vs. 0.24). The AOFC group showed greater reductions in amygdala volume, spontaneous neural activity, and hyper-connectivity. Network-level amygdala connectivity changes with default mode, frontoparietal, and dorsal attention networks were correlated with clinical improvements. Field mapping analysis revealed that greater electric field overlap between standard and optimized targets predicted better treatment outcomes. CONCLUSIONS: Personalized AOFC-guided cTBS enhanced social skills and communication in minimally verbal children with autism by modulating amygdala structure and connectivity. Changes in amygdala network connectivity predicted clinical improvements, suggesting a mechanistic link between neural circuit plasticity and behavioral outcomes. These findings demonstrate the potential of precision-targeted neuromodulation in addressing a critical gap in autism treatment for this understudied population.
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24. Zhao Y, Fan H, Luo Y, Zhang R, Zheng X. Gender Inequalities in Employment of Parents Caring for Children With Autism Spectrum Disorder in China: Cross-Sectional Study. JMIR Pediatr Parent;2024 (Dec 17);7:e59696.
BACKGROUND: The increasing need for child care is placing a burden on parents, including those with children with autism. OBJECTIVE: The aim of this study was to examine the employment status of Chinese mothers and fathers with children with autism spectrum disorder (ASD), as well as to investigate the factors that affected their employment decisions. METHODS: An online national survey was completed by the parents of 5018 children and adolescents with ASD aged 2-17 years (4837 couples, 181 single mothers, and 148 single fathers). The dependent variable was employment status-whether they kept working or quit to take care of their child. The independent variables were those characterizing the needs of the child and the sociodemographic characteristics of the family. RESULTS: The employment rate of mothers with children and adolescents with ASD was 37.3% (1874/5018), while 96.7% (4823/4988) of fathers were employed. In addition, 54.3% (2723/5018) of mothers resigned from employment outside the home to care for their children, while only 2.8% (139/4988) of fathers resigned due to caring obligations. Mothers’ employment was positively associated with their single marital status, lower educational level, and having assistance from grandparents. Having the grandparents’ assistance was positively associated with fathers’ employment. CONCLUSIONS: Gender inequalities in employment exist in China. Mothers caring for children with ASD had lower workforce participation than fathers. More female-friendly policies and a stronger gender equality ideology would be of benefit to Chinese society.