Pubmed du 01/08/25

Pubmed du jour

1. Banerjee T. Electromagnetic Interaction Algorithm (EIA)-Based Feature Selection With Adaptive Kernel Attention Network (AKAttNet) for Autism Spectrum Disorder Classification. Int J Dev Neurosci. 2025; 85(5): e70034.

BACKGROUND AND OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurological condition that impacts cognitive, social and behavioural abilities. Early and accurate diagnosis is crucial for effective intervention and treatment. Traditional diagnostic methods lack accuracy, efficient feature selection and computational efficiency. This study proposes an integrated approach that combines the electromagnetic interaction algorithm (EIA) for feature selection with the adaptive kernel attention network (AKAttNet) for classification, aiming to improve ASD detection performance across multiple datasets. METHODS: The proposed methodology consists of two core components: (1) EIA, which optimises feature selection by identifying the most relevant attributes for ASD classification, and (2) AKAttNet, a deep learning model leveraging adaptive kernel attention mechanisms to enhance classification accuracy. The framework is evaluated using four publicly available ASD datasets. The classification performance of AKAttNet is compared against traditional machine learning methods, including logistic regression (LR), support vector machine (SVM) and random forest (RF), as well as competing deep learning models. Statistical evaluation includes precision, recall (sensitivity), specificity and overall accuracy metrics. RESULTS: The proposed model outperforms conventional machine learning and deep learning approaches, demonstrating higher classification accuracy and robustness across multiple datasets. AKAttNet, combined with EIA-based feature selection, achieves an accuracy improvement ranging from 0.901 to 0.9827, Cohen’s kappa values between 0.7789 and 0.9685 and Jaccard similarity scores from 0.8041 to 0.9709 across four different datasets. Comparative analysis highlights the efficiency of the EIA algorithm in reducing feature dimensionality while maintaining high model performance. Additionally, the proposed method exhibits lower computational time and enhanced generalizability, making it a promising approach for ASD detection. CONCLUSIONS: This study presents a practical ASD detection framework integrating EIA for feature selection with AKAttNet for classification. The results indicate that this hybrid approach enhances diagnostic accuracy while reducing computational overhead, making it a promising tool for early ASD diagnosis. The findings support the potential of deep learning and optimisation techniques in developing more efficient and reliable ASD screening systems. Future work can explore real-world clinical applications and further refinement of the feature selection process.

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2. Baris S, Yavas C. PGAP1-Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature. Int J Dev Neurosci. 2025; 85(5): e70044.

Spastic paraplegia-67, caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis, is an autosomal recessive neurodevelopmental disorder. It is characterized by dysmorphic features, spasticity, brain abnormalities, hypotonia, impaired intellectual development and speech difficulties. A 9-month-old girl was admitted to our clinic with a neurodevelopmental disorder, hepatomegaly, occasional vomiting, spasticity and hypotonicity. Whole exome sequencing (WES) was planned in the patient who had microcephaly, dysmorphic facial appearance, short and blunt fingers, a wide mouth, lacking physical sensation, dyskinetic movements, agenesis of the corpus callosum and cerebellar hypoplasia on MRI. In our study, we used whole-exome sequencing, family segregation and bioinformatics to identify a homozygous 3 bp duplication in the GPI remodelling gene PGAP1 (c.1226_1229dup p.(Val411Argfs*3) [NM_024989.4]) in a female patient with a neurodevelopmental disorder, encephalopathy and nonspecific autosomal recessive forms of intellectual disability (ARID). At least 26 genes are involved in the biosynthesis and remodelling of GPI junctions. Hypomorphic coding variants in seven of these genes have been reported to cause reduced expression of GPI-associated proteins (GPI-APs) on the cell surface and ARID. PGAP1 gene variants are important in understanding GPI biosynthesis defects, which can lead to severe neurodevelopmental disorders like spastic paraplegia-67. The identified homozygous variant (c.1226_1229dup) further expands the genetic spectrum of GPI-related disorders and underscores the role of WES in diagnosing rare encephalopathies with dysmorphic features.

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3. Bsharat BA, Al-Duhoun AH, Ghanouni P, Alhusban R, Begeske J. Parents’ attitudes towards using assistive technologies for children with ASD in Jordan. Disabil Rehabil Assist Technol. 2025; 20(6): 1727-35.

This study aimed to evaluate the acceptance and attitudes of Jordanian parents toward assistive technology (AT) for children with autism spectrum disorder (ASD) using the Unified Theory of Acceptance and Use of Technology (UTAUT). In this cross-sectional study, 130 parents participated, most female (73.8%) and over 34 (70.8%). The majority (89.6%) reported that their children used smartphones, with 68.5% using them several times daily. Smartphones (89.6%) and iPads (24%) were the most frequently used technologies, while talking books (4%) and smart boards (2.4%) had the lowest usage. UTAUT results showed moderate agreement in most factors: effort expectancy (68.7%), performance expectancy (58.7%), and attitudes toward technology (65%). Notably, 47.8% of parents reported low social support for using AT, likely due to limited awareness and financial constraints. Regression analysis revealed that technology usage explained 41% of the variance in performance expectancy, while parental factors accounted for 43% of the variance in effort expectancy. Significant positive relationships were found between AT usage, behavioral intention, and actual use. These findings suggest that increasing technology usage and social support may enhance the adoption of AT for children with ASD. There is a need to increase the awareness towards assistive technology (AT) among Jordanian caregivers of people with autism spectrum disorder (ASD).There is need for clear and comprehensive guidelines to use AT for people with ASD.This study confirms the usability of the unified theory of acceptance and use of technology (UTAUT) to measure the technology adoption.This study highlights the amount of time using AT as the most critical variables while using AT in ASD. eng.

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4. Burrows CA, Sung S, Zheng S, Young GS, Charman T, Klaiman C, Klin A, Marrus N, Ozonoff S, Piven J, Robins DL, Schmidt RJ, Schwichtenberg AJ, Webb SJ, Zwaigenbaum L, Carver LJ, Chawarska K, Curtin S, Jeste SS, Iverson JM, Landa RJ, Messinger DS, Roberts JE, Stone WL, Tager-Flusberg H, Esler AN, Miller M, Bishop SL, Elison JT. Sex-Related Measurement Bias in Autism Spectrum Disorder Symptoms in the Baby Siblings Research Consortium. JAMA Netw Open. 2025; 8(8): e2525887.

IMPORTANCE: Disparities exist in age of diagnosis and prevalence of autism spectrum disorder (ASD) for female compared with male children. Correcting for sources of bias is critical for improving equitable ASD identification. OBJECTIVE: To determine whether sex differences exist in measurement of ASD symptoms using the Autism Diagnostic Observation Schedule (ADOS) among young children at high familial likelihood (HFL) and low familial likelihood (LFL) of ASD. DESIGN, SETTING, AND PARTICIPANTS: This cohort study collected longitudinal, prospective data from the Baby Siblings Research Consortium between January 1, 2003, and December 31, 2021. Participants included 3106 children who had an older sibling with ASD (HFL group) and 1444 without (LFL group). Data from as many as 3 visits when participants were aged 20 to 40 months were included. Analysis occurred between March 1, 2023, and May 29, 2025. EXPOSURES: Child sex and age and ASD diagnosis. MAIN OUTCOMES AND MEASURES: Measurement invariance by sex and age was examined across item-level ADOS data. Diagnostic group and sex differences were then examined using mixed-effect models on corrected scores. RESULTS: Repeated visits (n = 7557) from 4550 participants (2548 [56.0%] male) were included, of whom 1444 (31.7%) were in the LFL and 3016 (68.3%) in the HFL groups. Confirmatory factor analysis indicated social communication and restricted and repetitive behaviors models fit the data well in the HFL group but poorly in the LFL group. In the HFL group, females were rated as less impaired in eye contact (differential item functioning estimate [SE] = 0.088 [0.033]; P = .01), and their response to joint attention (differential item functioning estimate [SE] = 0.290 [0.105]; P = .01) and quality of social overtures (differential item functioning estimate [SE] = 0.053 [0.019]; P = .005) was associated with less underlying social communication difficulties compared with males. Adjusting for differential item functioning by age and sex resulted in moderate levels of measurement differences. Females showed milder autistic traits than males, although this gap was smaller in the participants diagnosed with ASD. CONCLUSIONS AND RELEVANCE: Sex differences exist in the general population in many social communication traits, yet ASD diagnostic thresholds do not account for these sex differences. Future instrument development, as well as clinician training, should acknowledge milder presentation (fewer difficulties with eye contact or quality of social impairments) in many females. This may help identify developmental differences earlier and improve outcomes for autistic females (estimate [SE] = -0.160 [0.061]; P = .009).

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5. Cacciato-Salcedo S, Lao-Rodríguez AB, Malmierca MS. Contextual auditory processing in the inferior colliculus is affected in a sex- and age-dependent manner in the valproic acid-induced rat model of autism. PLoS Biol. 2025; 23(8): e3003309.

Diverse biological factors, such as sex and age, confer heterogeneity on sensory processing challenges in autism. These factors result in major difficulties in the processing of contextual information in social and non-social situations. To assess divergence in autistic traits, it is critical to consider sex- and age-related variability. Nevertheless, these differences remain largely elusive. Animal models of autism offer the possibility to examine contextual processing at the single-neuron level. Here, we investigated predictive processing of contextual auditory cues in the auditory midbrain of control and prenatally valproic acid-induced rats, a well-established animal model of autism. The rats were prepubertal and adult female and male animals. We performed single-unit recordings in the inferior colliculus of control and prenatally, or in utero, exposed rats under the classical oddball paradigm and non-repetitive cascade control sequences to study neuronal mismatch. This is the neuronal correlate of mismatch negativity, the brain’s automatic response to interruptions in environmental regularity. When comparing control and exposed rats, our results demonstrated a reduction in neuronal mismatch in rats exposed to valproic acid. However, exposed adult females exhibited an increased neuronal mismatch compared to their control counterparts. With respect to sex distinctions, valproic acid induced sex differences in neuronal mismatch of prepubertal and adult rats that are not observable in control animals. Moreover, we detected an age-dependent refinement in prediction error that is not affected by the drug. But valproic acid altered typical developmental trajectory of neuronal mismatch in both sexes. Such observations support sex- and age-related effects of in utero valproic acid exposure in contextual auditory processing at the neural level of the inferior colliculus. In autism, atypical predictive processing of environmental regularities underlies unusual responses to novel experiences. The present study highlights the importance of sex and age, that confer heterogeneity to these challenges.

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6. Cai B, Miao Y, Zhao J, Ying X, Lin W. The Effect of Exercise Intervention on Cognitive Function and Quality of Life With Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. Actas Esp Psiquiatr. 2025; 53(4): 839-56.

BACKGROUND: Physical exercise may confer benefits on cognitive function and quality of life in children with autism spectrum disorder (ASD). However, the evidence has not been co mprehensively synthesized. This study aimed to investigate the effect of exercise intervention on cognitive function and quality of life with ASD, and provide evidence to support the scientific use of exercise interventions in practice. METHODS: We systematically searched major databases from inception to November 2023 for randomized trials and observational studies examining exercise interventions in children with ASD. Mean differences (MDs) with 95% confidence intervals (CIs) were calculated using random-effects models. Heterogeneity was assessed using the I2 statistic. Risk of bias was evaluated with the Cochrane tool. RESULTS: Fourteenth studies were included. Meta-analysis of 8 randomized trials found a small but significant effect of exercise on social communication (MD: 1.42, 95% CI: 0.21 to 2.6322, p = 0.02, I2 = 29%). The effect on social cognition was also significant (MD: 1.99, 95% CI: 0.18 to 3.80, p = 0.03, I2 = 0%). Influential analysis identified 2 studies as outliers. Leave-one-out analysis showed meta-analysis conclusions were robust. The included studies consistently demonstrated benefits of exercise on sleep, behavioral aspects, motor skills, quality of life, and other outcomes. CONCLUSIONS: This meta-analysis provides evidence that exercise interventions may improve core symptoms and functional outcomes in children with ASD. However, small sample sizes and heterogeneity indicate cautious interpretation. Further adequately powered trials are needed to establish optimal exercise programs for managing ASD.

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7. Campbell-Templeton S, Branney P, Mitchell P. How do autistic people view their empathic capacity?. Br J Dev Psychol. 2025.

Extensive research has examined empathy in autistic people; this has largely been conducted by asking autistic participants to complete measures and engage in experimental procedures or by consulting with close relatives. To the best of our knowledge, this study is one of the first to seek the views of autistic participants on their self-perceived empathic capacity. In this case, empathy was explored within a wider context of self-concept. The study recruited 100 participants who were asked to complete 10 statements about themselves. Subsequently, participants were asked to rate their self-perceived empathy on a scale of 1-10, providing justification for this. Autistic and non-autistic participants made a comparable proportion of references to numerous psychological traits. However, non-autistic participants made a higher proportion of references to being happy, friendly and caring. Autistic participants gave lower self-ratings of empathy compared to non-autistic participants; however, the thematic analysis showed that both groups felt they had cognitive and affective empathic capacity, with nuanced differences between the groups. This paper highlights the importance of involving autistic voices in research about their empathic capacity and self-concept, identifying nuance in the autistic experience that has been generally overlooked in previous research.

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8. Christensen KE, Faquette ML, Keser V, Reagan AM, Gebert AT, Bottiglieri T, Howell GR, Rozen R. Low Dietary Folate Increases Developmental Delays in the Litters of Mthfr(677TT) Mice. Nutrients. 2025; 17(15).

Background/Objectives: Low folate intake before and during pregnancy increases the risk of neural tube defects and other adverse outcomes. Gene variants such as MTHFR 677C>T (rs1801133) may increase risks associated with suboptimal folate intake. Our objective was to use BALB/cJ Mthfr(677C>T) mice to evaluate the effects of the TT genotype and low folate diets on embryonic development and MTHFR protein expression in pregnant mice. Methods: Female 677CC (mCC) and 677TT (mTT) mice were fed control (2 mg folic acid/kg (2D)), 1 mg folic acid/kg (1D) and 0.3 mg folic acid/kg (0.3D) diets before and during pregnancy. Embryos and maternal tissues were collected at embryonic day 10.5. Embryos were examined for developmental delays and defects. Methyltetrahydrofolate (methylTHF) and total homocysteine (tHcy) were measured in maternal plasma, and MTHFR protein expression was evaluated in maternal liver. Results: MethylTHF decreased due to the experimental diets and mTT genotype. tHcy increased due to 0.3D and mTT genotype; mTT 0.3D mice had significantly higher tHcy than the other groups. MTHFR expression was lower in mTT liver than mCC. MTHFR protein expression increased due to low folate diets in mCC mice, whereas in mTT mice, MTHFR expression increased only due to 1D. Developmental delays were increased in the litters of mTT mice fed 1D and 0.3D. Conclusions: The Mthfr(677C>T) mouse models the effects of the MTHFR 677TT genotype in humans and provides a folate-responsive model for examination of the effects of folate intake and the MTHFR 677C>T variant during gestation.

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9. Contestabile A, Casarotto G, Girard B, Righetti B, Solié C, Bellone C, Tzanoulinou S. Early Postnatal Shank3 Downregulation in the Nucleus Accumbens Impairs Performance in Social Conditioning Paradigms in Male Mice. Eur J Neurosci. 2025; 62(3): e70203.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by reduced social interactions, as well as repetitive behaviors and restricted interests. Mutations in SHANK3, a scaffolding protein located postsynaptically at excitatory synapses, are associated with ASD, schizophrenia, and intellectual disability in humans. Similar autism-like phenotypes have been observed in Shank3-deficient rodent models. The mesolimbic dopamine pathway appears to be particularly sensitive to Shank3 disruptions. We have previously shown that Shank3 downregulation in the nucleus accumbens (NAc) (Shank3-NAcKD) during early postnatal development impaired social preference in the three-chamber test. Here, we aimed to assess whether this Shank3 downregulation would lead to deficits in social conditioning paradigms. Specifically, using the social instrumental task (SIT), we found that Shank3-NAcKD male mice performed fewer lever presses to gain access to social interaction with a nonfamiliar juvenile mouse. Moreover, these mice failed to develop a preference for the chamber associated with social stimuli in a conditioned place preference (CPP) task. Unsupervised analysis of locomotor motifs during CPP revealed distinct exploratory strategies, with an altered allocation of exploratory behaviors between the socially paired and unpaired chambers, suggesting a suboptimal direction of exploration towards relevant social-associated cues. Our current data expand on our previous research to understand the involvement of mesolimbic Shank3 expression in autism-like phenotypes. Additionally, our results underline that local Shank3 manipulation during early postnatal life leads to intricate social behavior deficits, highlighting the need for an in-depth dissection of behavioral phenotypes in rodent models of ASD.

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10. Digonnet M, Chevin M, Alfaidy N, Raia-Barjat T, Giraud A, Sébire G. Restricted fetal blood brain barrier permeability in a preclinical model of autism induced by Group B Streptococcus maternal immune activation. J Dev Orig Health Dis. 2025; 16: e30.

Clinical and preclinical data about perinatal inflammation show its implication in brain injuries leading to autism spectrum disorder (ASD). For instance, Group B Streptococcus (GBS) chorioamnionitis generates autistic manifestations in the progeny. However, the precise way(s) how chorioamnionitis exerts its noxious effect on the central nervous system remains to be define. The pathogen-induced inflammatory response effects on the permeability of the blood brain barrier (BBB) have been documented in the mature brain. No study deals with the effect of GBS-induced chorioamnionitis, on the fetal BBB, even though it is one of the most common infection affecting the fetal environment. Given that dysfunctions of several key cells and molecules from the BBB seem to be involved in the pathogenesis of ASD from genetic and/or environmental origins, we hypothesized that pathogen-induced chorioamnionitis affects structurally and functionally the BBB. We used a well-established preclinical model of GBS chorioamnionitis leading to ASD phenotype in male offspring. We document a significant decrease of albumin permeability of the BBB in the white and gray matters of fetuses exposed versus unexposed to GBS chorioamnionitis. In line with this result, a significant increase in the expression of claudin-5 – component of tight junctions of the BBB – is detected in endothelial cells from BBB exposed to chorioamnionitis. Altogether, our results show that beyond genetic determinants, environmental factors such as bacterial infections affect the integrity of the BBB and might be involved in the fetal programming of ASD.

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11. Dingwall R, May C, McDonald JA, Hill T, Brown R, Lawrence AJ, Hannan AJ, Burrows EL. Training Schedule Affects Operant Responding Independent of Motivation in the Neuroligin-3 R451C Mouse Model of Autism. Genes Brain Behav. 2025; 24(4): e70032.

Autism affects ~1 in 100 people and arises from the interplay between rare genetic changes and the environment. Diagnosis is based on social and communication difficulties, as well as the presence of restricted and repetitive behaviours. Autism aetiology is complex. However, the social motivation hypothesis proposes that an imbalance in the salience of social over non-social stimuli contributes over time to the autism phenotype. Accordingly, motivational dysfunction in autism is widespread, and human imaging data has identified broad impairments to reward processing. The R451C mutation of the neuroligin-3 gene is one such rare genetic change. Knock-in mice harbouring this mutation (NL3) exhibit a range of autism-related phenotypes, including impaired sociability and social motivation. However, no prior report has directly probed non-social motivation. Here, we explore conflicting results from the progressive ratio (PR) and conditioned place preference tasks of non-social motivation. Initial PR results were inconsistent, suggesting reduced, unaltered, and elevated non-social motivation, respectively. Utilising several experimental designs, we probed a range of confounders likely to influence task performance. Overall, reduced PR responding by NL3s likely arose from a combination of their superior ability to withhold responding during prior training and a short PR training schedule. Meanwhile, increased PR responding by NL3s was attributable to their heightened degree of habitual responding. The NL3 mouse model therefore likely best represents autistic individuals with intact non-social motivation but altered behavioural updating. Finally, we discuss the benefits and limitations of using heterogenous experimental designs to probe behavioural phenotypes and offer some general recommendations for PR.

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12. Espinosa Mendoza TA, Oviedo Lara AR, Henk Jordan G, Sampieri-Cabrera R, Perez Martinez LE. Correction: Effects of Low-Intensity Transcranial Magnetic Stimulation in Neuropsychological Development of Pediatric Subjects With Autism Spectrum Disorder: A Longitudinal Retrospective Approach. Cureus. 2025; 17(8): c241.

[This corrects the article DOI: 10.7759/cureus.76569.].

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13. Ferreira HA, Pacheco PM, Santos THF, Molini-Avejonas DR. Early speech therapy intervention in children with Autism Spectrum Disorder. Codas. 2025; 37(4): e20240245.

PURPOSE: To analyze the results of speech therapy intervention based on the principles of the DIR/Floortime model in early childhood in children with Autism Spectrum Disorder. METHODS: A longitudinal, quantitative, and prospective manner with direct and indirect intervention, whose target population was children up to three years and eleven months of age, with atypical language development associated with Autism Spectrum Disorder. It led twenty-four speech therapy early intervention sessions based on the DIR Floortime model, in addition to two initial assessment sessions, and two sessions for final assessment. RESULTS: Twenty children completed the research, with an average age of 29 months at the initial assessment and 36 months in the final assessment. Among the children, 90% already had a diagnosis of Infantile Autism (F84.0). Comparing the results of the Pragmatic Profile, There was an average increase of 0.8 communicative acts and 6.66% in the occupation of the communicative space with statistical significance, as well as a decrease in the use of gestures. There was also a positive glow with moderate significance between « Intentional two-way communication » and the number of acts expressed per minute (the greater the capacity for intentional two-way communication, the greater the number of acts per minute). CONCLUSION: When analyzing the pre- and post-intervention results, a consistent and statistically significant evolution is observed. In social communication, skills are interconnected and need to be worked on in a correlational manner, observing the individual needs of each child.

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14. Freeman R, Jeffrey-Pearsall J, Dunphy D, Simacek J, Danov S, MacSuga-Gage A, Moore M. Implementation Drivers for Organization-Wide Positive Behavior Support: Supporting People With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2025; 63(4): 344-57.

Organization-wide positive behavior support (OW-PBS) is a framework for improving quality of life and preventing challenging behaviors for children and adults with intellectual and developmental disabilities (IDD). This tiered PBS framework has been adapted from schools for use in disability services. Supporting people with IDD involves a variety of services (family and home, independent living skills, supported employment, and day programs) and requires a values-based approach. Although the process of translating PBS from education to disability service organizations requires adaptations to the technical assistance tools and resources, the foundational implementation science drivers-and challenges-are analogous. In this article, the mechanisms for adapting the PBS framework into disability service organizations is discussed, with considerations for ensuring person-centered, culturally inclusive and responsive practices.

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15. Geslak DS, Boudreaux RT, Boudreaux BD. Exercise as Medicine across the Autism Spectrum: A Conceptualized Framework. Curr Sports Med Rep. 2025; 24(8): 246-51.

The prevalence of autism spectrum disorder is 1 in 31 children in the United States and is associated with increased risk for obesity, diabetes, hypertension, and shorter life expectancy. While the benefits of exercise for individuals with autism spectrum disorder are shown to be beneficial, federal endorsed guidelines and exercise prescriptions such as the FITT principle (Frequency, Intensity, Time, Type) fail to account for the complexity and diversity of the autistic population. The present article addresses the applicability of traditional exercise prescriptions for autistic individuals and presents a new conceptualized personal recommendation based on current data available, lived experiences, and evidence-based teaching strategies.

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16. He J, Shi Y, Wang X. Therapeutic Effects of Electroencephalogram-Based Bioelectric Stimulation on Cognitive-Behavioural Outcomes in Children With Dual Diagnosis of Autism Spectrum Disorder and Intellectual Disability. Actas Esp Psiquiatr. 2025; 53(4): 802-12.

OBJECTIVES: This investigation evaluates the interventional effects of electroencephalogram-based bioelectric stimulation (EBBS) on intellectual development and behavioural symptoms in children with autism spectrum disorder (ASD) and comorbid intellectual disability (ID). METHODS: By utilising a retrospective cohort design, the research team analysed 310 clinically diagnosed cases of ASD and ID that were stratified into two intervention groups: a conventional group (n = 163) receiving conventional interventions (behavioural applied behaviour analysis (ABA) therapy and structured instruction) and an observation group (n = 147) receiving the same behavioural interventions combined with EBBS. Before and following the treatment, the childhood autism rating scale (CARS), Montreal cognitive assessment (MoCA), developmental age and developmental quotient (DQ) and infants-junior middle school students’ social-life abilities scale (S-M) were employed to assess symptom alleviation, cognitive capabilities and quality of life. The levels of serum 25-hydroxyvitamin D [25(OH)D], folic acid (FA) and brain-derived neurotrophic factor (BDNF) were also measured. RESULTS: After treatment, the observation group showed significantly lower CARS scores; increased post-treatment serum levels of 25(OH)D, FA and BDNF; and improved MoCA scores than the conventional group (p < 0.05). Regarding developmental age and DQ, the observation group demonstrated significant improvements in the subscales of fine motor skills, language, adaptive ability and social interaction after intervention (p < 0.05). Additionally, the S-M total scores and all quality-of-life indicators were superior in the observation group (p < 0.05). CONCLUSION: EBBS has the potential to collaboratively enhance the cognitive function, behavioural symptoms and quality of life of children with comorbid ASD and ID.

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17. Higuchi Y, Ozawa A, Kobayashi R, Konno T, Arakawa H. Functional disruption of oxytocin projections participates atypical social and anxiety-like behaviours in BTBR mouse model of autism. Open Biol. 2025; 15(8): 240387.

Oxytocin (OXT) neurons in the paraventricular nucleus of the hypothalamus (PVN), which send projections to the medial amygdala (MeA) and the bed nucleus of the stria terminalis (BnST), are implicated in regulation of prosocial-emotional behaviours and abnormalities resembling autism spectrum disorders (ASD). Compared with standard C57BL6J (B6) mice, BTBR mice, a behaviour-based ASD model, exhibited decreased densities of OXT(PVN) neurons and attenuated OXT neuronal responses to a social encounter. OXT receptor mRNA expressions in the MeA and BnST as a response to a social encounter were blunted in BTBR mice. OXT promoter retrograde viral tracing revealed that the OXT(PVN→BnST) projections were defective in those BTBR mice. Thus, chemogenetic excitation of OXT(PVN→MeA) neurons using OXT promoter adeno-associated viruses (AAV) enhanced anxiety-like behaviour and facilitated social investigation in both strains, while excitation of OXT(PVN→BnST) neurons attenuated anxiety-like behaviour along with social investigation in B6 mice and failed to induce a change in their socio-emotional behaviours in BTBR mice. Altogether, OXT circuits serve as a key regulator for socio-emotional behaviour; MeA-OXT projection facilitates social investigation and anxiety-like behaviour, while BnST-OXT projection conversely attenuates these behaviours; hence a defect of the OXT(PVN→BnST) circuits contributes to the development of ASD-like social phenotypes in BTBR mice.

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18. Hing B, Taylor R, Eliasen S, Stevens HE. Parental preconceptual α-cypermethrin exposure alters embryonic brain transcriptomics in mice: Implications for autism spectrum disorder and stress vulnerability. Neurotoxicology. 2025; 110: 181-96.

Pyrethroid insecticides are widely used in agriculture and households, and their exposure can affect neurodevelopment. Few studies have evaluated how preconception parental exposure could also affect this process. To address this knowledge gap, adult C57Bl6/J mice were gavaged daily with α-cypermethrin at a human relevant low (0.3 mg/kg) or high (10 mg/kg) dose in corn oil for four weeks prior to conception. Offspring embryonic day 16 dorsal forebrain was extracted for transcriptomic analysis. In offspring forebrains of exposed compared to unexposed parents, there was increasing number of differentially expressed genes (DEGs) from paternal (least) to maternal to both parent exposure (most). A dose dependent effect was observed in offspring forebrain for paternal and maternal preconceptual exposures. Maternal and both parent exposures led to upregulated genes in offspring brain for biological processes involved in translation with predicted activation of EIF4E, a gene associated with autism. In contrast, paternal exposure upregulated cell cycle related DNA damage signaling processes. After any parent exposure, there was upregulation of biological processes involved in mitochondria function and oxidative stress and a downregulation of neuronal and synaptic processes with predicted inhibition of BDNF signaling. Weighted gene correlation network analysis identified modules associated with different parent exposures that were over-represented with DEGs and had similar functional signatures as DEG-related pathways. Importantly, DEGs in offspring forebrain after any parent exposure were over-represented with genes related to autism spectrum disorder (ASD) and stress vulnerability. The study highlights the potential contribution of preconception parental pyrethroid exposure to aberrant brain functioning.

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19. Hnoonual A, Plong-On O, Tangviriyapaiboon D, Charalsawadi C, Limprasert P. A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand. Int J Mol Sci. 2025; 26(15).

Fragile X syndrome (FXS) is the most common form of X-linked intellectual disability (ID). This study aimed to share 30 years of experience in diagnosing FXS and determine its frequency in Thailand. We retrospectively reviewed 1480 unrelated patients (1390 males and 90 females) with ID, developmental delay, or autism spectrum disorder, or individuals referred for FXS DNA testing at Songklanagarind Hospital, Thailand, over a 30-year period. The samples were analyzed using cytogenetic methods, PCR-based techniques, and/or Southern blot analysis. Full mutations (>200 CGG repeats) were identified in 100 males (7.2%) and three females (3.3%). An intermediate allele was detected in one male, while no premutation was found in the index cases. Two males were suspected to have FMR1 gene deletions. Twelve families underwent prenatal testing during this study. Most families undergoing prenatal FXS diagnosis involved mothers who were premutation carriers and had given birth to children affected by FXS. This study represents the largest series of molecular genetic FXS testing cases reported in Thailand. The frequency of FXS identified in different cohorts of Thai patients across various periods was approximately 7%. This study enhances public awareness of at-risk populations and highlights the importance of prenatal testing and genetic counseling for vulnerable families.

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20. Itahashi T, Tanji K, Shikauchi Y, Naoe T, Okimura T, Nakamura M, Ohta H, Hashimoto RI. Iron deposition and functional connectivity alterations in the right substantia nigra of adult males with autism. Cereb Cortex. 2025; 35(8).

The substantia nigra (SN) is a midbrain nucleus implicated not only in motor control and reward processing but also in higher-order cognitive functions. Iron homeostasis in this region is essential for neurotransmitter synthesis, especially for dopamine, and thus, iron dysregulation may contribute to the symptomatology of autism spectrum disorder (ASD). However, iron deposition and functional circuits of the SN in the autistic brain remain underexplored. This study investigated iron deposition and functional connectivity (FC) of the SN in 53 adult males with ASD and 99 typically developing controls using quantitative susceptibility mapping and resting-state fMRI. Compared to controls, the ASD group exhibited higher magnetic susceptibility in the right SN, suggesting elevated iron deposition. Within the ASD group, higher iron deposition was associated with more severe socio-communicative deficits and reduced sensory-seeking behavior. Seed-based FC analyses further revealed that the ASD group exhibited stronger FC between the right SN and bilateral visual cortices and reduced FC with the right superior frontal gyrus. These results highlight the critical role of the SN in the autistic brain and indicate that altered iron homeostasis in the SN may contribute to disruptions in the dopaminergic system that underlie the core symptoms of ASD.

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21. Iwanaga K, Wehman P, Schall C, Avellone L, Chan F, Inge K, McDonough J. Factors Affecting Employment for Early Adults With Intellectual and Developmental Disabilities: Influence of Supported Employment. Intellect Dev Disabil. 2025; 63(4): 286-98.

Public policy directives have emphasized Competitive Integrated Employment (CIE) as the primary employment outcome for individuals with intellectual and developmental disabilities (IDD), yet their overall employment rates remain low. Supported Employment (SE) offers evidence-based vocational rehabilitation with personalized workplace support for CIE success. This study aims to predict CIE outcomes for youth and young adults with IDD by evaluating demographics, SE, and adjunctive state vocational rehabilitation agency (SVRA) services. Analyzing data from 67,884 individuals using hierarchical logistic regression, we found SE significantly associated with CIE success. Adjunctive SVRA services, including workplace support, job placement, and job search assistance, also played crucial roles. These findings emphasize SE’s efficacy in helping youth and young adults with IDD achieve CIE, guiding vocational professionals.

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22. Karadag M, Turan MI, Celebi C, Caglar T. Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study. Mol Syndromol. 2025; 16(4): 354-65.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive congenital metabolic disorder, which is characterized by the impairment of the enzymatic activity of sterol 27-hydroxylase. CTX, a rare neurodegenerative disease of sterol metabolism, can affect multiple systems, including the nervous system. It has been demonstrated that many congenital metabolic diseases like CTX are associated with autism spectrum disorder (ASD). The aim of this study was to identify the prevalence of CTX disease in patients with ASD. METHOD: The clinical conditions of all patients were evaluated using the Mignarri Scoring Index. A sociodemographic form and Gilliam Autism Rating Scale-2 were applied to all participants. RESULTS: In total, 101 children and adolescents with ASD were analyzed for genes. Following genetic analyses, 4 patients with mutations in the CYP27A1 gene, two homozygous variants, and two different heterozygous mutations were identified. Most common symptom was diarrhea. Overall, 67.3% of all patients and 3 in 4 cases with CYP27A1 gene mutation had gone through psychiatric evaluation. A family history of a psychiatric disorder was present in 19.8% of all cases and in 75% of cases with mutations. Moreover, all mutant cases had comorbid oppositional defiant disorder. A total of 81.2% of all patients and all mutant patients were diagnosed with a behavioral disorder. CONCLUSION: Psychiatric manifestations ranging from personality changes to behavioral disorders might accompany CTX. Better understanding and knowledge of the CTX disease by distinguishing specific psychiatric and systemic symptoms might help prevent missed diagnoses, progressive neurological deterioration, and permanent disability through early initiation of chenodeoxycholic acid treatment.

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23. Kaş Alay G, Kaçan H, Kurtoğlu S. Experiences, Difficulties, and Coping Mechanisms of Parents With Children With Autism: A Phenomenology Study in Türkiye. J Child Adolesc Psychiatr Nurs. 2025; 38(3): e70035.

BACKGROUND: Autism spectrum disorder (ASD) has the potential to create a number of challenges and problems for parents due to having lifelong problem behaviors. PURPOSE: The aim of this qualitative study was to explore the experiences, difficulties, and coping mechanisms of parents with children with ASD through a multidisciplinary team approach. METHODOLOGY: This study employed a descriptive qualitative research methodology. Data were collected through semi-structured, face-to-face individual interviews with 12 parents, guided by a structured interview protocol. Data management and analysis were conducted using the MAXQDA program. A thematic approach was used in data analysis. RESULTS: Participants reported experiencing both challenges and positive emotions related to raising a child diagnosed with ASD, and described a variety of coping strategies. Thematic analysis of the interview data revealed five key themes centered on parental perspectives: (1) parenting a child with ASD, (2) families’ reactions to the diagnosis, (3) psychological and social difficulties, (4) future-related concerns, and (5) perceived support needs. CONCLUSIONS: Parents of children have ASD have to cope with many problems throughout their lives. Resources are needed to support parents bio-psycho-socially. Enhancing the provision of standardized education and support to parents can be achieved by improving existing health and social policies, establishing formal support networks, and facilitating access to childcare services.

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24. Kato S, Hanawa K. Cognitive constraints and lexicogrammatical variability in ASD: from diagnostic discriminators to intervention strategies. Front Hum Neurosci. 2025; 19: 1606701.

INTRODUCTION: This study examines whether specific lexicogrammatical features can reliably differentiate individuals with autism spectrum disorder (ASD) from non-ASD individuals. Classification models using logistic regression and deep neural networks (DNN) demonstrated high performance-80% accuracy, 82% precision, 73% sensitivity, and 87% specificity. To clarify which linguistic variables contribute to this differentiation, the analysis focused on identifying key syntactic features associated with ASD-specific patterns of lexicogrammatical choices. METHODS: This study used the Tag Linear Model, developed in prior work, which enables identification of specific lexicogrammatical discriminators. Although DNN models achieved higher predictive accuracy, their internal processes were not interpretable. To identify statistically significant features, we applied a logistic regression with 10,000 bootstrap iterations; p-values derived from this procedure indicated the statistical significance of each feature. The linear model thus provided transparent evidence of differences in lexicogrammatical features between ASD and non-ASD individuals. RESULTS: Of the 135 lexicogrammatical items analyzed, 46 were identified asstatistically significant discriminators (p < 0.05) between ASD and non-ASD speakers. From these 46 discriminators, 20 showing variation at the clause and phrase level were selected for detailed analysis. These were grouped into seven cognitive-functional domains implicated in ASD, including working memory, inferencing, joint attention, and mental space construction. DISCUSSION: These findings suggest that syntactic variation in ASD reflects underlying domain-specific cognitive constraints. Linking lexicogrammatical features to cognitive-functional domains provides a linguistically grounded perspective on the neurocognitive profiles of ASD and informs future diagnostic and intervention approaches.

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25. Kim J, Taylor IK, Schwab T, King C, Duru EE, Jones KB. Adverse Birth Outcomes in Pregnant Women With Intellectual and/or Developmental Disabilities by Substance Use Disorder Status. Subst Use Misuse. 2025: 1-8.

OBJECTIVE: There remains a gap in research examining substance use disorder (SUD) during pregnancy among women with intellectual and/or developmental disabilities (IDDs). This study investigates the association between SUD and birth outcomes in this population. METHODS: This retrospective cohort study analyzed 5,512 births from 2,445 mothers with IDDs using the Utah Population Database (1996-2018). Outcomes included preterm birth, low birth weight, cesarean delivery, congenital anomalies, and neonatal intensive care unit (NICU) admission. Random-effects logistic regression models were applied. RESULTS: Among all births, 18.8% were to mothers with SUD, with this rate increasing from 8% in 1996 to 48% in 2018. SUD was associated with a 57% higher risk of preterm birth (OR = 1.57, p = 0.01). Low birth weight was more common in the SUD group, with a 90% increased risk (OR = 1.90, p < 0.01). SUD was also linked to higher rates of cesarean delivery (OR = 2.22, p = 0.02), while it was not significantly associated with NICU admission (OR = 1.43, p = 0.11). CONCLUSIONS: This study reveals significant associations between SUD and adverse birth outcomes in pregnant individuals with IDDs. The findings underscore the need for targeted interventions to mitigate risks and improve access to prenatal care.

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26. Kolukisa T, Cinar N. Mothers of children with autism spectrum disorder: Their views on their children’s hospital experiences, expectations from nurses, and a hospital environment sensitive to differences – A qualitative study. Arch Psychiatr Nurs. 2025; 57: 151912.

PURPOSE: Children with Autism Spectrum Disorder (ASD) tend to require healthcare services more frequently than their neurotypical peers. With the increasing prevalence and high rates of medical comorbidities, it has become increasingly important for healthcare providers and care systems to meet the healthcare requirements of children with ASD. This study aims to examine the hospital experiences of mothers raising children with ASD, their expectations from nurses, and their views on a hospital environment sensitive to differences. MATERIAL AND METHODS: A qualitative research framework was used in this study, drawing from phenomenology. The study population consisted of mothers with children aged 2-6 years with ASD in three different provinces across three geographical regions of Turkey. The study sample consisted of 30 mothers whose children had an autism diagnosis based on the DSM-V criteria and met the inclusion requirements. RESULTS: After analyzing the obtained data during the interviews, three themes and 36 codes were identified. The themes are as follows: Evaluations of Autism Spectrum Disorder, Evaluations of Nursing Care, and Recommendations. CONCLUSION: Given the high prevalence of ASD and the documented challenges that children with ASD encounter in accessing healthcare services, this research aims to enhance the quality of hospital care for children with ASD, offering valuable insights.

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27. Koyama H, Yamanaka T, Maegaki Y, Inoue M. A Pilot Pre-Post Study of an Internet-Based Sleep Education Program for Parents of Children with Autism Spectrum Disorder and Sleep Disturbance in Japan. Yonago Acta Med. 2025; 68(3): 250-61.

BACKGROUND: Children with autism spectrum disorder frequently experience persistent sleep difficulties that persist into adulthood. These issues are linked to adverse outcomes like behavioral issues, poor academic performance, and increased parental stress, highlighting the importance of early interventions. We assessed an internet-based sleep education program for parents of children with autism spectrum disorder and conducted a preliminary examination of its potential to improve sleep quality and behavioral outcomes. METHODS: Eighteen parent-child pairs participated in an internet-based sleep education program. Outcomes related to the program were assessed at three time points: baseline, 4 weeks post-intervention, and 10 weeks post-intervention. Key measures analyzed included sleep parameters, sleep habits, children’s behavioral problems, parental mental health, and parenting attitudes, using validated assessment tools. RESULTS: At 4 weeks post-intervention, the program demonstrated a reduction in the time required for children to fall asleep, an enhancement in sleep efficiency, and an improvement in parental mental health. At 10 weeks post-intervention, improvements were also observed in children’s externalizing behavior problems. Parents reported increased confidence in managing their children’s sleep issues and noted a positive impact on family dynamics. CONCLUSION: The findings suggest that the internet-based sleep education program may be an effective and acceptable intervention for addressing sleep difficulties in children with autism spectrum disorder. This study contributes substantially to the existing literature, highlighting the potential for internet-based interventions to enhance sleep management strategies. This study was retrospectively registered with the jRCT on September 30, 2024 (jRCT1062240058).

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28. Lineberry S, Broda MD, Dinora P, Bogenschutz M, Prohn S, West A. Evaluating Measurement Invariance Over Time for a Personal Opportunities Scale for People With IDD: Implications for Policy and Practice. Intellect Dev Disabil. 2025; 63(4): 315-28.

Personal opportunities refer to chances for people with intellectual and developmental disabilities (IDD) to take self-directed action based on their interests, strengths, and preferences. This study tested for measurement invariance across five years of cross-sectional data, including data collected during the COVID-19 pandemic, to determine whether the scale performed consistently over time. Analysis revealed significant differences in both the National Core Indicators In-Person Survey (NCI-IPS) outcomes and in the Personal Opportunities scale. Measurement invariance testing indicated partial threshold and loading invariance, but not intercept invariance, suggesting that the ways in which participants perceived or responded to scale items changed over time. We recommend that researchers utilizing scaled measures with longitudinal outcomes employ statistical checks, including measurement invariance, to ensure the scale performs consistently over time.

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29. Long J, Liao X, Han K, Chen J, Li H, Liu Y, Tang Z, Zhang H. A Case Report of High-Dose Repetitive Transcranial Magnetic Stimulation-Induced Excessive Laughing in a 6-Year-Old Boy With Autism Spectrum Disorder. Clin Case Rep. 2025; 13(8): e70731.

High-dose transcranial magnetic stimulation-induced excessive laughter in a 6-year-old autistic male. We hypothesized that this phenomenon reflected prefrontal disinhibition or exaggerated emotional response. This case emphasizes the necessity for modified treatment protocols with concurrent psychiatric assessment, emotional evaluation, and neurophysiological monitoring when encountering such adverse effects during neuromodulation therapy.

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30. Mansour H, Kurana S, Eshetu A, Hoare S, El Baou C, Arnold I, Halys C, Stewart GR, Desai R, John A, Mandy W, O’Nions E, Stott J. Prevalence of Post-Traumatic Stress Disorder (PTSD) in autistic children or young people (CYP) and adults: A systematic review and meta-analysis. Clin Psychol Rev. 2025; 120: 102621.

Autistic individuals are more likely to encounter traumatic events and mental health challenges throughout their lives. While multiple studies have explored the link between autism and post-traumatic stress disorder (PTSD), no meta-analysis has comprehensively synthesised PTSD prevalence rates according to DSM or ICD diagnostic manuals. This is important for ensuring appropriate intervention for this underserved population. Therefore, the current meta-analysis investigated the point and lifetime prevalence of PTSD among diagnosed autistic children or young people (CYP) and adults. A thorough systematic search identified 17 studies involving 53,918 autistic CYP and 13 studies with 142,081 autistic adults. Random-effects meta-analyses indicated a point prevalence of 1.11 % (95 % CI: 0.32; 2.38) among autistic CYP and 2.06 % (95 % CI: 0.00; 11.97) among autistic adults. Lifetime prevalence was 5.74 % (95 % CI: 2.12; 10.99) for autistic CYP and 2.72 % (95 % CI: 2.54; 2.90) for autistic adults. Subgroup analyses identified several factors influencing rates: co-occurring intellectual disability, gender proportion, diagnostic criteria (e.g., DSM vs. ICD), and informant type (self-report vs. combined self and carer/parent). Although PTSD prevalence rates are similar to general population estimates, they contrast with previous studies using screening tools, which reported substantially higher PTSD symptomatology in autistic individuals. This discrepancy may highlight some limitations of current PTSD diagnostic criteria, which may not fully capture how trauma is experienced and expressed by autistic individuals, leading to underdiagnosis and potentially significant adverse outcomes. Future research should focus on developing autism-specific diagnostic guidelines to better identify and address PTSD in this population, ensuring more timely support.

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31. Mao HY, Qi K, Meng SQ, Cai KL, Zhu LN, Zhang WK, Qiao ZY, Yang Y, Chen AG. The impact of a ball sports combination training program on physical fitness and body mass Index in children with autism spectrum disorder. Front Pediatr. 2025; 13: 1590666.

OBJECTIVE: This study aims to explore the effects of a 12-week Ball Combination Training Program (BCTP) on the physical fitness and Body Mass Index (BMI) of children with Autism Spectrum Disorder (ASD). METHODS: This study employed a 2 × 2 mixed experimental design. A total of 29 children diagnosed with ASD were included (mean age = 7.60 ± 2.81). The 29 participants were randomly assigned to either the BCTP group (n = 15) or the control group (n = 14). The BCTP group underwent 12 weeks of ball combination exercise training (5 times per week, 45 min per session) in addition to their regular rehabilitation therapy, while the control group continued their usual rehabilitation therapy and daily activities. BMI and physical fitness tests were conducted before and after the 12-week intervention. RESULTS: The 12-week BCTP prevented increase in BMI (p < 0.05), which increased in the control group. Children in the BCTP group also showed improvements in physical fitness, which was measured using the 2 × 10-meter shuttle run, sit-and-reach, and tennis ball throw (p < 0.05), while no such improvements were seen in the control group. CONCLUSION: The 12-week BCTP prevented an increase in BMI and improved the physical fitness of children with ASD in terms of speed, agility, flexibility, and upper body strength. Therefore, we recommend incorporating ball combination exercises into the physical rehabilitation of children with ASD to improve overall physical health and fitness.

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32. May D, Barshir R, Shahar M, Rose AJ, Shmueli D. Genetic Testing of Neurodevelopmental Disorders in Israel. JAMA Netw Open. 2025; 8(8): e2527464.

IMPORTANCE: Genetic testing is the criterion standard for diagnosing neurodevelopmental disorders (NDDs), with chromosomal microarray analysis (CMA) used as a first-line test for autism, intellectual disability, or global developmental delay. Despite advancements in genetic testing technologies and integration into health care systems, data on clinical use remain limited. OBJECTIVE: To evaluate genetic counseling and testing rates in patients with major NDDs and these individuals’ clinical and sociodemographic characteristics. DESIGN, SETTING, AND PARTICIPANTS: This longitudinal, retrospective, population-based cohort study analyzed electronic health records of individuals born between 2000 and 2020 and insured by Clalit Health Services, the largest health maintenance organization in Israel. Follow-up extended through December 6, 2023. Patients diagnosed with autism spectrum disorder, intellectual disability or global developmental delay, epilepsy, or cerebral palsy (major NDDs) were included. EXPOSURE: Neurodevelopmental disorders. MAIN OUTCOMES AND MEASURES: The outcome was the rate of genetic counseling, CMA testing, and NDD diagnosis measured using descriptive statistics. RESULTS: Of 2 406 763 individuals born in Israel between 2000 and 2020, 25 403 (1.06%; mean [SD] age at December 6, 2023, 11.9 [4.3] years; 68.7% male) were diagnosed with a major NDD. The cohort was predominantly of middle socioeconomic status (56.5%), and autism was the most common diagnosis (40.6%). Among 18 709 children indicated for CMA (ie, those with autism, intellectual disability or global developmental delay, or multiple diagnoses), 7233 (38.7%) received genetic counseling, and 4592 (24.5%) underwent testing (63.5% of those counseled). Genetic testing rates were higher in children with multiple co-occurring NDDs (1478 of 4005 [36.9%]) compared with those with autism alone (2189 of 10 311 [21.2%]). Genetic counseling rates were lowest for cerebral palsy and epilepsy as guidelines were less established. Genetic evaluation rates increased with more recent birth cohorts. While evaluation rates were similar across subpopulations for children with a diagnosis, initial autism diagnosis rates were 54% to 83% lower in lower socioeconomic status and minority populations, limiting access to counseling and testing. CONCLUSIONS AND RELEVANCE: A key finding of this cohort study was that more than one-third of patients who received genetic counseling did not undergo testing. Furthermore, low socioeconomic status and minority populations experienced drastic underdiagnosis of autism. These findings underscore the need for national initiatives to improve awareness and access to counseling and testing for all major NDDs and the recognition of autism in minority groups.

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33. Messaoud M, Joya HU, Alansari AN, Jouini A, Ksiaa A, Zrig A, Sahnoun L. A Rare Case of Ileal Intussusception Caused by Primary Small Bowel Trichobezoar and Meckel’s Diverticulum in an Autistic Child. Clin Case Rep. 2025; 13(8): e70745.

Intussusception is a condition in which one part of the intestine slides into an adjacent part of the intestine. Intussusception is an important cause of an acute abdomen and the second most common cause of bowel obstruction in children. Trichobezoars, which are rare in children and often linked to psychiatric disorders, seldom cause intestinal intussusception. While Rapunzel syndrome-a form of gastric trichobezoar extending into the small bowel-is a recognized cause, primary small-bowel trichobezoars are exceptionally rare. We report a unique pediatric case of ileo-ileal intussusception triggered by a 30-cm primary small-bowel trichobezoar coexisting with Meckel’s diverticulum, an association not previously documented. A 6-year-old autistic boy presented with symptoms suggestive of bowel obstruction. Imaging suggested small-bowel intussusception related to Meckel’s diverticulum. Surgery revealed an ileo-ileal intussusception secondary to a 30-cm obstructive trichobezoar located proximal to the invagination and an inflamed Meckel’s diverticulum. The diverticulum was resected, the trichobezoar was removed, and ileo-ileal anastomosis was performed, with no postoperative complications. The combination of a primary small-bowel trichobezoar and Meckel’s diverticulum leading to intussusception is exceedingly rare and poses unique diagnostic and therapeutic challenges, particularly in special pediatric populations. Early recognition and surgical intervention are essential to prevent bowel ischemia, perforation, and sepsis.

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34. Mirzaian CB, Deavenport-Saman A, Hudson S, Betz CL. Intellectual and Developmental Disabilities Health Care Transition: Stakeholder Perspectives. Intellect Dev Disabil. 2025; 63(4): 299-314.

Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) and YYA with IDD and co-occurring mental health (MH) conditions experience unique challenges during the period of health care transition compared to those with other long-term conditions. This investigation explored respondents’ (N = 277) perceptions of the needs associated with the transition experience of these two groups. Community-based organization respondents were significantly more likely to indicate stigma/bias were barriers for YYA with IDD compared to advocates or providers. Advocates were more likely to indicate access to postsecondary training or education was needed for YYA with IDD and co-occurring MH conditions. Greater services or supports were needed for YYA with co-occurring MH conditions than those with IDD: employment-related, housing, transportation/mobility, financial/food security.

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35. Morris AM, Kasdin RG, Shah S, Hill I, Bao KH, Singletary W, Rice T. Autism Spectrum Disorder in Child and Adolescent Inpatient Psychiatric Settings: Presentation, Clinical Strategies, and Application of the Double Empathy Problem. South Med J. 2025; 118(8): 528-32.

Children and adolescents with autism spectrum disorder (ASD) have presentations and clinical needs in the inpatient psychiatric (IP) setting that are distinct from those of their neurotypical peers. This narrative review describes the clinical presentations and IP environmental management strategies for youth with ASD. Evidence suggests that traditional IP care teams often are poorly equipped to address the multifaceted specific needs of this population. The benefits for a multifaceted approach in youth IP units with an increased focus on family collaboration, youth communication, and various psychosocial modalities are described, as are specialized IP units for patients with ASD. We suggest that an established framework called the double empathy problem can be used to better understand the complexities of interpersonal interactions and psychosocial environments within IP units. Future research may integrate the double empathy problem into understandings of caring for youth with ASD in IP contexts to optimize pharmacological interventions and enhance therapeutic milieus.

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36. Orionzi B. Neurodiversity in Children From Historically Marginalized Communities. Pediatr Ann. 2025; 54(8): e257-e60.

Neurodiversity is a term that describes thinking and interacting with the world differently from « typical » thoughts and interactions as held by societal standards. Neurodiversity often highlights diagnoses, like autism spectrum disorder or attention-deficit/hyperactivity disorder, but may include several other developmental disorders. Primary care pediatricians are naturally tied to neurodiversity, as they are often on the forefront of identifying and evaluating for neurodivergent development. There are significant disparities that exist in diagnosing and managing developmental disorders for children from historically marginalized communities. A delay in diagnosis can hinder outcomes, as critical periods of intervention are best early on. When pediatricians use culturally responsive screening and intervention tools, alleviation of these disparities can occur. Combined with tools to improve early identification, as well as connecting health care to educational systems, pediatricians can contribute positively to the development of children with minoritized backgrounds and to the neurodiversity movement.

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37. Ortiz Hernández IY, Noboa Rodríguez J, Bueno Fernandez LA, Rijo Florimon K. Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations. Cureus. 2025; 17(8): e90530.

The 15q11.2 microdeletion syndrome, also known as Burnside-Butler syndrome (BBS), is a rare genetic disorder involving a deletion in the breakpoint 1 to breakpoint 2 (BP1-BP2) on the long arm of chromosome 15, often associated with growth retardation and delayed speech development. In contrast, rare manifestations consist of dysmorphic traits, seizures, and neurodevelopmental or psychiatric conditions such as epilepsy, autism spectrum disorder (ASD), and schizophrenia. The BP1-BP2 region contains genes critical for brain development and function, including non-imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), non-imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), cytoplasmic FMR1 interacting protein 1 (CYFIP1), and tubulin gamma complex associated protein 5 (TUBGCP5), which have been linked to conditions such as attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and epilepsy. Prenatal tests and karyotype lead to unclear results, but the current chromosomal microarray analysis (CMA) provides an accurate diagnosis of BBS. Treatment for these individuals is personalized and typically involves a multidisciplinary approach. We present the case of a six-year-old male patient with 15q11.2 microdeletion syndrome and a complex neurological and developmental profile, including developmental delay and ASD. We highlight the rare combination of early-onset refractory epilepsy, schizencephaly, and cystic fibrosis transmembrane conductance regulator (CFTR) variant carrier status, which adds to the uniqueness of the case. This article contributes to expanding the clinical spectrum of 15q11.2 microdeletion syndrome. It underscores the importance of genetic testing in children with complex neurodevelopmental symptoms, as the clinical presentation of this syndrome is often subtle or nonspecific, making early diagnosis and genetic counseling challenging but essential for guiding appropriate interventions.

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38. Parish-Morris J. Viewing Early Diagnosis Through a Developmental Lens-« Autistic, Yet Still a Girl ». JAMA Netw Open. 2025; 8(8): e2525893.

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39. Pearson H. Autism is on the rise: what’s really behind the increase?. Nature. 2025; 644(8078): 860-3.

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40. Peterson T, Dodson J, Burgin S, Sherwin R, Strale F, Jr. Correction: Impacts of Hyperbaric Oxygen Therapy (HBOT) on Verbal Scores in Children With Autism: A Secondary Analysis of the HBOT Trial Using Multivariate Analysis of Variance (MANOVA). Cureus. 2025; 17(8): c245.

[This corrects the article DOI: 10.7759/cureus.69421.].

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41. Peterson T, Hosey T, Mosteller J, Sherwin R, Strale F, Jr. Correction: A Descriptive Study on the Impacts of Hyperbaric Oxygen Therapy on Autistic Individuals Using Parent Testimonies. Cureus. 2025; 17(8): c247.

[This corrects the article DOI: 10.7759/cureus.55648.].

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42. Peterson T, Sherwin R, Hosey T, Close N, Strale F, Jr. Correction: The Effects of Hyperbaric Oxygen Treatment on Verbal Scores in Children With Autism Spectrum Disorder: A Retrospective Trial. Cureus. 2025; 17(8): c248.

[This corrects the article DOI: 10.7759/cureus.51654.].

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43. Pfeiffer B, Weiss KE, Tomczuk L, Slugg L. Community-Driven Priorities in Intellectual and Developmental Disabilities Transition Services: An Environmental Scan. OTJR (Thorofare N J). 2025: 15394492251352398.

The transition into adulthood can be an arduous time for young adults with intellectual and developmental disabilities (IDD) who face new responsibilities and significant shifts in services they receive. Peer support by someone with shared lived experience of disability can provide relevant and effective transition services. An inclusive team of researchers, which engaged people with lived experience in all research activities, conducted an environmental scan including a scoping review, focus groups (5 groups, n = 28 participants), and interviews (n = 19) to identify services and research priorities from the perspective of key community members (i.e., young adults with IDD, parents, peer supporters, researchers and service providers). Crosswalked data from the three sources demonstrated community-driven transition service priorities of independent living skills, person-centered approaches, and post-secondary experiences with peer support identified as a capacity builder. Priorities of key community members can be leveraged for existing transition and peer support interventions. Priorities for Transition Services Identified by Key Community Partners including Young Adults with Intellectual and Developmental DisabilitiesThe transition to adulthood can be hard for young adults with intellectual and developmental disabilities (IDD) due to changes in routines, responsibilities, and available services. Adult services often lack providers who understand the unique needs of people with IDD, despite increased demand for support during this time. Peer support, offered by people with similar lived experiences, can help fill this gap by providing meaningful assistance and understanding. However, the voices of young adults with IDD are often overlooked in setting transition priorities, with more focus placed on the views of family members, teachers, and other caregivers. To address this, researchers conducted an environmental scan to identify priorities for services and research from key community members, including young adults with IDD, peer supporters, caregivers, and professionals. An inclusive research team, which included people with IDD, used different types of methods like a scoping review of literature, interviews, and focus groups, to gather diverse perspectives. The results were combined and reviewed by an advisory board to identify critical needs for transition services. The top priorities identified were the development of independent living skills, person-centered approaches, and post-secondary experiences (like college or work). Peer support was highlighted as an important way to strengthen these services. By focusing on these community-driven priorities, researchers and service providers can better understand and support young adults with IDD as they transition to adulthood. eng.

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44. Porto KS, Wieckowski AT, Fein DA, Barton ML, Baranek GT, Robins DL. Comparison of Available Tools to Screen for Autism at 12 and 15 Months. J Dev Behav Pediatr. 2025.

OBJECTIVE: To determine the performance of autism screeners at 12 and 15 months of age. METHODS: Children were screened either at 12- (n = 1473) or 15-month (n = 1227) primary care visits. Children were screened with both the Infant/Toddler Checklist (ITC) and the First Year Inventory-Lite (FYI-L) at 12 months and FYI-L and the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) at 15 months. After a positive screen and/or clinical concern, families were offered a no-cost diagnostic evaluation. RESULTS: Of the 1473 toddlers screened at 12 months, 223 screened positive and 107 attended a diagnostic evaluation. Of the 1227 children screened at 15 months, 252 screened positive and 94 attended the evaluation. Overall, specificity for autism was high (>0.94) for all screeners at 12 and 15 months. At 12-month screening, sensitivity for autism was low on the ITC (0.26) and moderate on the FYI-L (0.67). Positive predictive value (PPV) was low for both screeners (0.24 for ITC and FYI-L). At 15 months, both the FYI-L and the M-CHAT-R/F demonstrated moderate sensitivity (0.61 for FYI-L and 0.60 for the M-CHAT-R/F) and low PPV (0.16 for FYI-L and 0.31 for M-CHAT-R/F). CONCLUSION: Although data do not support universal screening at younger ages, the study identifies tools that can be used at 12 and 15 months. Importantly, screening at these ages does not identify all cases of autism, and repeat screening at 18 months and beyond is essential to support autism detection as early as possible.

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45. Rosenbaum P, Chambers EM. In developmental disability, parenting is a dance led by the child. Dev Med Child Neurol. 2025.

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46. Ruíz MGH, Calderón MJA, Solá VP, Zúñiga AH. Description of Motor Stereotypies in Adolescents and Adults With Autistic Spectrum Disorder. Actas Esp Psiquiatr. 2025; 53(4): 715-29.

BACKGROUND: Motor stereotypies (MS) are highly prevalent in children with autism spectrum disorders (ASD) and, although they tend to decrease with age, may persist into adulthood. The primary objective of this study was to describe the frequency, severity, number, and types of MS in adolescents and adults with ASD, to retrospectively evaluate their evolution over time, as well as to examine their relationship with sociodemographic and clinical variables. METHODS: A sample of 90 adolescents and adults with ASD were included in a cross-sectional and retrospective study. Rojahn’s Stereotypic Behavior Scale (SBS) was used to measure the frequency, severity, and types of MS, while the Achenbach System of Empirically Based Assessment (ASEBA) inventories were utilized to assess psychiatric comorbidity. RESULTS: MS were observed in 86.5% of cases. The most frequent MS in adolescents and adults with ASD were complex hand and finger movements and pacing (both of which were the most persistent over time) and repetitive body movements (which decreased in periodicity over time). Other, more socially inappropriate MS diminished over time. A significant reduction in the frequency and severity of MS was observed. No correlation was found between age and frequency of MS, and no differences were observed between men and women. Individuals with ASD and intellectual disability (ID) exhibited more types of MS per case and more frequent MS than those without ID, although these differences were not statistically significant. The ASD group with psychopathological comorbidities showed greater frequency and severity of MS, as well as more types of MS per case. CONCLUSIONS: MS decreased in frequency and severity over time but persisted in ASD, particularly those that are more specific to ASD. The most socially inappropriate MS tended to disappear. The presence of MS in adolescents and adults with ASD was not influenced by age or sex. Adolescents and adults with ASD and ID or psychopathological comorbidities exhibited a greater variety of stereotypies, with the psychopathological comorbidities group showing higher frequency and severity of MS. Understanding the characteristics of MS could aid in predicting their progression, designing more targeted treatments (if needed), and identifying phenotypic subgroups to facilitate the discovery of associated risk genes.

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47. Sandham V, Hill AE, Armstrong R, Hinchliffe F. Closing the Research-to-Practice Gap in Autism: A Professional Practice Intervention Pilot Study for Increasing Use of Evidence-Based Practice. Am J Speech Lang Pathol. 2025: 1-22.

PURPOSE: Implementation science is a field aimed at improving uptake of research into practice. Behavior change techniques are procedures aimed at changing behavior. Clinical speech-language pathologists (SLPs) have reported barriers to translating research into pediatric autism communication services. This study piloted an intervention that integrated implementation science and behavior change techniques to improve evidence-based practice (EBP) use in SLP pediatric autism communication services. The aim was to design and evaluate a professional practice intervention to improve EBP use by pediatric autism SLPs working in Australia. METHOD: This pilot study used participatory action research methods. It recruited participants (N = 27) to small online communities of practice (CoPs), where participants chose an individualized EBP professional practice goal, developed an action plan, and presented the outcome of their learning to their CoP. Convergent mixed-methods analysis was used to analyze the effectiveness of the intervention, and explanatory qualitative methods were used to analyze the mechanism for its effectiveness. RESULTS: Participants’ opportunity and capability for EBP use were significantly improved as a result of the intervention. Quantitative results indicated sustainment but not further improvements in EBP in the 3 months following intervention. Building participant research capacity through experiential learning positively influenced sustainability and scalability of EBP use. The intervention was scaled to a novel context, without direct researcher involvement, and was shown to be effective in this new workplace setting. CONCLUSION: A coproduced online CoP is a model that was shown to improve SLP EBP use and should be considered for future EBP research translation projects. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.29613596.

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48. Selvakumar R. Insights on Parental Experiences with Autism Spectrum Disorder for Global Audiences. J Psychosoc Nurs Ment Health Serv. 2025; 63(8): 6.

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49. Shikarpurya S, Gilson CB. SAATHI: A Pilot Transition Intervention for South Asian Parents of Children With Intellectual and Developmental Disabilities. Intellect Dev Disabil. 2025; 63(4): 271-85.

Racially minoritized parents often experience significant systemic barriers when accessing and navigating transition planning for their young adults with intellectual and developmental disabilities. Despite the benefits of transition-focused parent interventions, only a few studies have developed or adapted these interventions for racially minoritized parents. We developed a 6-week, transition-focused online parent education intervention for 31 South Asian parents, South Asians Accessing and Advocating for Transition and Higher Education Inclusion (SAATHI). We found that SAATHI increased parents’ transition knowledge, advocacy skills, and coping skills. Parents reported an increased sense of community and belonging after participating in SAATHI. Participants considered SAATHI feasible and beneficial. Implications of SAATHI for research, practice, and policy are also discussed.

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50. Slack JD, McTigue B, Mackenzie H, Flack M, Caudwell KM. A mediation analysis of Autistic-like traits and gaming motivations on problem gaming symptoms: Are the effects of social and escape motives the same?. Addict Behav Rep. 2025; 22: 100625.

There are higher rates of video game use and potentially gaming disorder among individuals with autism spectrum disorder (ASD). However, the association between subthreshold autistic-like traits (ALTs) and gaming behaviour remains relatively unexplored. The present study assessed whether gaming motives may mediate the relationship between ALTs and gaming disorder symptoms. A total of 378 (Mage = 31.41, SD = 8.84) respondents completed an online survey, which included measures of gaming disorder symptoms, gaming motives, and ALTs. Findings indicated that social and escape motives mediated relationship between ALTs and gaming disorder symptoms, after controlling for time gaming. However, ALTs displayed a negative association with social motives and a positive association with escape and both social and escape motives were positively associated with gaming disorder symptoms. These findings indicate that individuals with higher levels of ALTs may game primarily for escape from real-life challenges and less so for social reasons, potentially exacerbating problem gaming symptoms. These results underscore the importance of understanding gaming motives, as they can inform targeted interventions for reducing problematic gaming. This study contributes to the growing body of literature on gaming behaviour, emphasising the need for motives to be considered in educational and problem gaming support initiatives.

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51. Sonfelianu A, González-Sala F, Lacomba-Trejo L. Exploring Attachment in Adults With Autism Spectrum Disorder: A Systematic Review. Actas Esp Psiquiatr. 2025; 53(4): 813-38.

BACKGROUND: Attachment styles may exert an influence on emotional regulation, specifically, secure attachment has been associated with more adaptative emotion regulation strategies and enhanced adult well-being. Despite the recognized importance of secure attachment in promoting mental health and well-being, little is known about how attachment styles manifest and evolve in adults with autism spectrum disorder (ASD). This systematic review examines « What is the connection between attachment styles and psychological, relational, and clinical variables in individuals with ASD or autistic traits, according to scientific research? ». METHODS: A literature search, adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, was performed across PubMed, Web of Science and ProQuest Central databases. Using HubMeta, 12 studies were selected based on set criteria. Two independent reviewers conducted the entire process, from searching and selecting studies to extracting data and assessing quality. Inter-rater agreement was high, with kappa values ranging from 0.94 to 1. RESULTS: The sample included 91,078 (98.99%) women and 346 (0.38%) men. Studies assessed attachment, ASD or autistic traits (Broader Autism Phenotype, BAP), intelligence quotient (IQ), depression, anxiety, stress, marital and relationship satisfaction, emotional availability and intelligence, empathy, ASD difficulties, personality traits and motivational processes, and gaming disorder. Individuals with ASD show higher rates of insecure attachment than general population and this could have an impact on their mental health and well-being. Parents with ASD also show difficulties when establishing the bond with their children. CONCLUSION: This review highlights the importance of developing interventions with adults with ASD with the aim to establish better bonding and reaching greater well-being and mental health. The PROSPERO Registration: CRD42024628086, (https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024628086).

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52. Sun X, Wang H, Deng J, Cheng S, Wang X, Fu C, Li L, Zhan Y, Chen J. Causal Network Analysis Reveals Key Brain Regions Associated With Severity in Children With Autism Spectrum Disorder. Autism Res. 2025.

This study aims to investigate the relationship between gray matter (GM) changes and severity in children with Autism Spectrum Disorder (ASD). We examined 113 ASD children aged 2-8 years (17 mild cases, 56 moderate cases, and 40 severe cases), as well as 110 age and sex-matched healthy controls (HC). Voxel-based morphometry (VBM) was used to compare GM density (GMD) changes between ASD and HC groups. Additionally, structural covariance network analysis quantified the cross-regional synchronous changes in GM among ASD children, and causal analysis described the pattern of changes in the GM network related to symptom severity in ASD children. The results indicated that ASD children exhibiting mild symptoms have an enlarged parahippocampal gyrus, and as the severity of ASD increases, the range of GMD changes expands (p < 0.05, FDR correction). Granger causality (GC) analysis revealed that the parahippocampal gyrus may function as a central hub within ASD-related directional networks, exerting causal effects on other brain regions (p < 0.05). These findings were validated by external datasets. Our results provide preliminary insights into the role of the parahippocampal gyrus in ASD and promote the application of dimensional models.

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53. Tumkaya S, Yucens B, Yasaran A, Akmehmetoglu V, Karadag F. Do Autistic Traits Predict Obsessive-Compulsive Symptoms? A Community-Based Study. Psychol Rep. 2025: 332941251363887.

Obsessive Compulsive Disorder (OCD) and Autism Spectrum Disorder (ASD) have similar characteristics. People with one of these disorders are more likely to meet the diagnosis of the other disorder than the general population. This study mainly investigated whether autistic traits predicted obsessive-compulsive symptom subtypes after controlling for some demographic features and clinical variables. This study included 460 university students from two universities and their family members. The subjects were asked to complete a sociodemographic and clinical data form, the Vancouver Obsessional Compulsive Inventory (VOCI), the Autism-Spectrum Quotient (AQ), the Beck Depression Inventory (BDI) and the Beck Anxiety Inventory (BAI). The relationship between autistic symptoms and obsessive-compulsive symptoms was assessed using linear regression analysis, controlling for age, sex, depression, anxiety scores, and a history of frequent childhood upper respiratory tract infections (URTIs). The AQ attention-switching score was associated with hoarding (β = 0.135, p = .002), just-right (β = 0.087, p = .026), indecisiveness (β = 0.101, p = .006), and total VOCI (β = 0.080, p = .038) score. AQ subscale scores other than attention-switching were not associated with VOCI scores. Age was negatively associated with obsessions (β = -0.133, p = .001), just-right (β = -0.129, p = .002), indecisiveness (β = -0.214, p < .001), and total VOCI score (β = -0.109, p = .006). BDI and BAI total scores were positively associated with all VOCI scores (all β in between 0.114 and 0.318, all p in between 0.033 and <0.001). Checking (p = .025), just-right (p = .038), and total VOCI scores (p = .046) were significantly higher in the group with a history of frequent childhood URTIs compared to the group without. Individuals with OCD symptoms may exhibit attention-switching deficits similar to those of individuals with ASD symptoms, suggesting a subgroup of OCD that shares features with ASD. Attention-switching deficits should be further investigated in terms of the relationship between ASD and OCD.

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54. Ullah S. Letter to the Editor regarding: « Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study ». Eur J Pediatr. 2025; 184(8): 517.

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55. Vanneau T, Crosse MJ, Foxe JJ, Molholm S. Impaired neural encoding of naturalistic audiovisual speech in autism. Neuroimage. 2025; 318: 121397.

Visual cues from a speaker’s face can significantly improve speech comprehension in noisy environments through multisensory integration (MSI)-the process by which the brain combines auditory and visual inputs. Individuals with Autism Spectrum Disorder (ASD), however, often show atypical MSI, particularly during speech processing, which may contribute to the social communication difficulties central to the diagnosis. Understanding the neural basis of impaired MSI in ASD, especially during naturalistic speech, is critical for developing targeted interventions. Most neurophysiological studies have relied on simplified speech stimuli (e.g., isolated syllables or words), limiting their ecological validity. In this study, we used high-density EEG and linear encoding and decoding models to assess the neural processing of continuous audiovisual speech in adolescents and young adults with ASD (N = 23) and age-matched typically developing controls (N = 19). Participants watched and listened to naturalistic speech under auditory-only, visual-only, and audiovisual conditions, with varying levels of background noise, and were tasked with detecting a target word. Linear models were used to quantify cortical tracking of the speech envelope and phonetic features. In the audiovisual condition, the ASD group showed reduced behavioral performance and weaker neural tracking of both acoustic and phonetic features, relative to controls. In contrast, in the auditory-only condition, increasing background noise reduced behavioral and model performance similarly across groups. These results provide, for the first time, converging behavioral and neurophysiological evidence of impaired multisensory enhancement for continuous, natural speech in ASD. SIGNIFICANCE STATEMENT: In adverse hearing conditions, seeing a speaker’s face and their facial movements enhances speech comprehension through a process called multisensory integration, where the brain combines visual and auditory inputs to facilitate perception and communication. However, individuals with Autism Spectrum Disorder (ASD) often struggle with this process, particularly during speech comprehension. Previous findings using simple, discrete stimuli do not fully explain how the processing of continuous natural multisensory speech is affected in ASD. In our study, we used natural, continuous speech stimuli to compare the neural processing of various speech features in individuals with ASD and typically developing (TD) controls, across auditory and audiovisual conditions with varying levels of background noise. Our findings showed no group differences in the encoding of auditory-alone speech, with both groups similarly affected by increasing levels of noise. However, for audiovisual speech, individuals with ASD displayed reduced neural encoding of both the acoustic envelope and the phonetic features, marking neural processing impairment of continuous audiovisual multisensory speech in autism.

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56. Wagatsuma N, Nobukawa S, Kurikawa T. Excitatory/inhibitory ratio disruption modulates neural synchrony and flow directions in a cortical microcircuit. PLoS Comput Biol. 2025; 21(8): e1013306.

Autism spectrum disorder (ASD) and schizophrenia are complex and heterogeneous mental disorders involving the dysfunction of multiple neural systems. The atypical and heterogenous temporal coordinations of neuronal activity, which are widely observed in these two disorders, are hypothesized to stem from an excitatory/inhibitory (E/I) imbalance in the brain. To investigate the association between the E/I imbalance and atypical neural activities, and to assess the influence of specific subtypes of inhibitory interneurons on network activity regulation, we developed a computational microcircuit model with biologically plausible layer 2/3 of visual cortex that combined excitatory pyramidal neurons with three subtypes of inhibitory interneurons (parvalbumin [PV], somatostatin [SOM], and vasoactive intestinal polypeptide [VIP]). We numerically explored the role of distinct types of E/I imbalance by changing the population size of different subtype neurons. We find that when the E/I balance is disrupted by decreasing the PV population size, activity of the PV population precedes that of the pyramidal population, which enhances beta and gamma oscillations. Conversely, pyramidal neuronal population activity was the precursor of PV interneuron activity when the E/I imbalance was induced by decreasing the SOM population size; this preferentially impaired gamma-frequency activity. The disruption of E/I balance altered the information flow between pyramidal and PV populations, modulating neuronal dynamics. Our results suggest that E/I imbalance due to different subtype interneurons would induce the distinct types of the atypical neural behaviors associated with neural system dysfunction.

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57. Wang H, Zhang M, Yang S, Jiang Y, Wu L, Sun C. Cannabinoid Receptors CB1 and CB2 Activation Restores Hippocampal Lipid Profiles and Alleviates Autism-Like Behaviors in Valproic Acid-Induced ASD Rats. CNS Neurosci Ther. 2025; 31(8): e70591.

OBJECTIVE: Emerging evidence suggests lipid metabolism dysregulation contributes to autism spectrum disorders (ASD), with the endocannabinoid system (cannabinoid receptors CB1R/CB2R) implicated in lipid homeostasis. This study investigated whether CB1R/CB2R activation improves hippocampal lipid metabolism and ASD-like behaviors in a valproic acid (VPA)-induced ASD rat model. METHODS: Male offspring from dams exposed to VPA (600 mg/kg, i.p.) received the CB1R agonist ACPA (0.1 mg/kg) or the CB2R agonist AM1241 (3 mg/kg) from postnatal days 21-27. ASD-like behaviors (marble burying, self-grooming, social interaction, open-field tests) and hippocampal lipid profiles (UPLC-MS/MS) were analyzed. RESULTS: VPA-exposed rats displayed heightened repetitive behaviors, social deficits, and hyperactivity, all significantly alleviated by ACPA and AM1241. Lipidomics revealed marked reductions in hippocampal phosphatidylcholines, lysophosphatidylcholines, fatty acids, sphingomyelins, ceramides, and phosphatidylethanolamines in VPA rats. Both agonists restored lipid levels to near normal, comparable to controls. CONCLUSIONS: CB1R/CB2R activation ameliorates behavioral abnormalities and rectifies hippocampal lipid dysregulation in VPA-induced ASD models, highlighting cannabinoid receptors as potential therapeutic targets for ASD-associated metabolic disturbances.

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58. Wiseman S. Big data for classifying ASD. Nat Neurosci. 2025; 28(8): 1577.

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59. Wong TR, Boulton KA, Demetriou EA, Thomas EE, Phillips NL, Hankin L, Park SH, Hickie IB, Guastella AJ. Executive Function and Social Cognition Performance Predicts Social Difficulty for Autistic Adults. Autism Res. 2025.

There has been limited research aimed at understanding the cognitive features that predict outcomes in autistic adults. Difficulties in social cognition and executive function (EF) processes have been proposed as important cognitive components underlying social functioning outcomes. In this study, 305 autistic adults were administered a battery of social cognition, EF, and social functioning assessments to determine the degree to which social cognition and EF factors predicted outcomes. For social cognition, hierarchical regressions showed that EF explained neither theory of mind scores nor emotion recognition scores. We then ran several mediation models to determine whether EF explained social functioning independently of social cognition. These exploratory analyses show that poorer performance-based EF and social cognition both predicted more clinician-observed social challenges, while poorer self-reported EF and social cognition predicted more self-reported social challenges. Effects on outcomes were independent of each other. Our results highlight the potential of bot EF and social cognition measures to provide clinically meaningful markers for social functioning, but via separate pathways. This study supports the utility of targeting EF and social cognition processes in autistic adults in assessment and support pathways.

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60. Wu G, Song L, Zhang G, Xu Y, Fang J, Xiong S, Yang W, Jiang L. Sex Differences in Functional Gradients and Dynamic Functional Connectivity in Preschool-Aged Children With ASD. CNS Neurosci Ther. 2025; 31(8): e70562.

BACKGROUND: The prevalence of autism spectrum disorder (ASD) is significantly higher in males than in females; although the underlying etiology remains unclear. This study aimed to investigate the multi-scale reorganization of brain networks in preschool-aged boys with ASD and their impact on clinical symptoms. METHODS: A total of 54 children with ASD (40 boys and 14 girls) and 44 typically developing (TD) children (28 boys and 16 girls), aged between 2 and 6 years, were recruited for this study. Functional gradient analysis and dynamic functional connectivity were used to examine differences in the hierarchical organization of brain functional networks between preschool-aged boys and girls with ASD compared to their corresponding typically developing peers. Subsequently, multiple machine learning models were applied to evaluate the classification performance of the identified abnormal features in distinguishing ASD from TD. RESULTS: The results showed that the ASD group exhibited functional gradient abnormalities in multiple brain networks: (1) In boys with ASD, primary gradient abnormalities were identified in the dorsal attention network, limbic network, ventral attention network, and default mode network (DMN), whereas in girls with ASD, primary gradient abnormalities were only found in the DMN; (2) Secondary gradient abnormalities in boys with ASD were found in the sensorimotor network (SMN), ventral attention network, and DMN, while in girls with ASD, secondary gradient abnormalities were restricted to the DMN and SMN; (3) Third gradient abnormalities in boys with ASD were observed only in the visual network, whereas in girls with ASD, abnormalities were present in the limbic network, SMN, and visual network; (4) Enhanced dynamic functional connectivity was detected in boys with ASD only in state 1. CONCLUSION: Preschool-aged boys and girls with ASD exhibit significant sex differences in functional gradients and dynamic functional connectivity, underscoring the complexity and heterogeneity of ASD. These findings provide a novel theoretical framework for understanding the neuroimaging mechanisms underlying ASD.

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61. Zhou Y, Chen Y, Wang P, Zhang K, Zhang Y. Causal associations between schizophrenia and other psychiatric disorders: A Mendelian randomization study. J Int Med Res. 2025; 53(8): 3000605251369855.

ObjectiveSchizophrenia is a globally prevalent complex neuropsychiatric disorder that is frequently comorbid with various psychiatric disorders, leading to poor prognoses for affected patients. However, the causal relationships between schizophrenia and these comorbid disorders remain unclear.MethodsWe utilized Mendelian randomization to investigate the causal effects of schizophrenia on eight psychiatric disorders, including alcohol use disorder, anorexia nervosa, anxiety disorders, attention-deficit hyperactivity disorder, autism spectrum disorders, bipolar disorder, depression, and obsessive-compulsive disorder, using data from the Psychiatric Genomics Consortium and other extensive Genome-Wide Association Studies. We employed the inverse variance-weighted method as the primary analysis, complemented by Mendelian randomization-Egger, weighted median, Mendelian randomization-Presso, Steiger filtering, leave-one-out sensitivity analysis, and reverse Mendelian randomization to address potential biases and validate the directionality of the causal relationships.ResultsOur analysis revealed that a genetically predicted one-log unit increase in schizophrenia risk was associated with a 70.7% increase in the odds of bipolar disorder (odds ratio: 1.707, 95% confidence interval: 1.58-1.84). We also found strong evidence regarding a causal relationship of schizophrenia with autism spectrum disorders, showing a 17.4% higher odds (odds ratio: 1.174, 95% confidence interval: 1.11-1.24). Additionally, schizophrenia conferred a 14.5% elevated risk of alcohol use disorder (odds ratio: 1.145, 95% confidence interval: 1.09-1.21), while a statistically significant yet clinically marginal association was observed with depression (odds ratio: 1.004, 95% confidence interval: 1.003-1.006). No causal relationships were detected between schizophrenia and attention-deficit hyperactivity disorder, anorexia nervosa, anxiety disorders, or obsessive-compulsive disorder. Sensitivity analyses reinforced these findings, and reverse Mendelian randomization analyses provided no evidence of reverse causal impacts on schizophrenia from the disorders examined.ConclusionThese findings confirm schizophrenia as a significant genetic risk factor for bipolar disorder, autism spectrum disorders, and alcohol use disorder. Our findings enhance understanding of the interrelationships among psychiatric disorders and offer novel insights into the clinical diagnosis and management of psychiatric comorbidities.

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