1. Alon R. Predicting the Emotions of Brothers and Sisters of Individuals with Down Syndrome/Autism. J Autism Dev Disord;2025 (Jul 26)

Within a family system, when a sibling is diagnosed with Down Syndrome (DS) or autism, it can pose significant challenges for the non-diagnosed sibling, especially as the non-diagnosed sibling is often responsible for the future care of the diagnosed sibling. DS and autism have specific characteristics that may uniquely influence sibling relations, particularly the emotions towards the sibling with the disability. The current study focused on the role of sense of coherence (SOC) in predicting the emotions of emerging adult siblings of individuals with DS/autism. There were 543 participants ranging in age from 18 to 27 (M = 22.33, SD = 2.49): 306 were siblings (105 brothers, 201 sisters) of individuals with DS and 237 siblings (89 brothers, 148 sisters) of individuals with autism. Participants completed self-report questionnaires on emotions, SOC, and demographics. Factor analysis revealed that emotions comprised active negative emotions, passive negative emotions, and positive emotions. Path analysis results showed that SOC predicted all three emotion types, with the disability (DS/autism) and the sex of the typically-developing sibling involved in this relation. The results highlight the importance of addressing the unique needs of siblings of individuals with DS/autism both in terms of the type of disability and according to their sex.

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2. Barbosa de Matos M, Vendrametto V, Molaschi F, Graziano F, Vacchetti M, Svevi B, Vitiello B, Marcotulli D, Delia G, Fioretto F, Martinuzzi A, Davico C. How Useful Are Instrumental Examinations in Newly Diagnosed Children with ASD? Insights from Real-World Practice. Children (Basel);2025 (Jun 27);12(7)

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and multifactorial etiology, diagnosed on the basis of clinical criteria. Medical comorbidities are common and often lead to instrumental examinations; however, the clinical utility of routinely performing such tests remains uncertain. This study aimed to assess the practical value of instrumental assessments in ASD by examining both prescribing behaviors and the prevalence of abnormal findings in a sample of autistic children. METHODS: A combined-method approach was adopted: (1) an online survey of child neuropsychiatrists across the Piedmont region (Italy) explored current attitudes and practices regarding instrumental testing in children with ASD; (2) a retrospective cross-sectional analysis examined the frequency and clinical relevance of abnormal findings in ASD patients who underwent comprehensive testing at a tertiary hospital in Turin. RESULTS: The survey showed that 85.7% of centers follow specific protocols for instrumental examinations, though practices vary considerably. Genetic testing and blood analyses are routinely performed, while EEG, MRI, audiometry, and metabolic screenings are generally based on clinical indication. In the retrospective study, instrumental tests revealed a low rate of clinically significant findings. Clinically relevant genetic abnormalities were detected in 7.9% of CGH-array tests. EEG abnormalities were seen in 9% of cases, though 57% had nonspecific or unclear results. Among biochemical parameters, notable findings included altered lipid profiles (45%), ferritin deficiency (24%), and anemia (12.5%) and no metabolic disorders were identified. DISCUSSION: These findings highlight substantial variability in clinical practice and suggest that while some instrumental tests may provide valuable insights, routine screening is often of limited benefit. The high prevalence of nonspecific findings reinforces the need for careful clinical correlation, emphasizing the importance of balancing comprehensive assessment against the risks of over-testing and challenges in interpreting results. Future research should focus on developing evidence-based guidelines for instrumental assessments in this population.

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3. Burleigh L, Weber N, Lim A, Young RL. Perceived Remorse and Education: Their Impact on Mock Juror Judgements of Autistic Individuals. J Autism Dev Disord;2025 (Jul 26)

Research indicates that autistic individuals are at increased risk compared to their non-autistic peers of receiving harsher treatment and penalties when interacting with the criminal justice system. Given that remorse is highly regarded in the criminal judicial system and features strongly in comments made by adjudicative constituents when issuing proposed punishments, the present study investigated whether this harshness may be attributed to autistic people being perceived by non-autistic individuals as less remorseful. It was also investigated whether educating people about autism would moderate any mediating relationship between autism diagnosis, perceived remorse, and penalty harshness. Five autistic and five non-autistic individuals participated in video recordings and were instructed to convey remorse for two hypothetical crimes. Non-autistic participants (N = 195) were then randomly allocated one autistic video and one non-autistic video to view and asked to indicate perceived remorse and degree of appropriate penalty harshness. Participants were then educated regarding autistic characteristics and given the option to re-rate perceived remorse and penalty harshness. Results supported the hypothesis that perceived remorse would mediate the relationship between autism diagnosis and penalty harshness. Further, education resulted in a reduction on the harshness of penalty imposed, through improving perceived remorse. These results suggest that autistic individuals may be unfairly disadvantaged within the forensic setting when perceived by non-autistic individuals, due to potential difficulties or differences in displaying remorse. However, the presentation of education regarding autism may mitigate these adverse outcomes, indicating that educating decision makers on potential differences in autistic presentation may be beneficial.

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4. Campêlo Borba de Morais RM, Gouveia FV, Sato F, Germann J, Pinheiro S, Barros N, Kuroki MA, Fongaro C, Zaffarani L, da Rocha MM, Fonoff ET, Brentani HP, Martinez RCR. Multimodal associations between brain morphology, immune-inflammatory markers, spatial transcriptomics, and behavioural symptoms in autism spectrum disorder. Brain Behav Immun;2025 (Jul 26)

BACKGROUND: Aggression is a common and disruptive feature of autism spectrum disorder (ASD), affecting up to 68% of individuals and significantly burdening families and caregivers. Despite its prevalence, the mechanisms underlying aggression in ASD remain poorly understood, with evidence pointing to complex interactions between behavioural, neurobiological, and environmental factors. Emerging research suggests that neuroinflammation, along with structural brain changes, may contribute to aggressive behaviour in ASD. OBJECTIVES: This study investigated the behavioural and neurobiological profiles of individuals with ASD who exhibit aggressive behaviour by examining neuroendocrine and inflammatory markers, structural brain differences, and spatial transcriptomics. The overarching goal was to identify the mechanisms underlying aggression in ASD and inform potential therapeutic strategies. METHODS: Forty-two male individuals with ASD aged 11-38 years were included in the study, divided into aggressive (Case; n = 21) and non-aggressive (Control; n = 21) groups based on Modified Overt Aggression Scale scores. A series of standardized questionnaires were used to investigate behaviour patterns and quality of life. Plasma levels of neuroendocrine and inflammatory markers, including cytokines and neuropeptides, were measured using a multiplex assay. For a subset of aggressive participants (n = 13), MRI scans were acquired, and a deformation-based morphometry (DBM) was performed to evaluate structural brain differences. Spatial transcriptomics investigated gene expression patterns in brain regions exhibiting volume alterations. RESULTS: Aggression in ASD was associated with more severe core symptoms (higher CARS scores) and pervasive behavioural disturbances, including hyperactivity, irritability, and stereotypy, as well as poorer quality of life. Aggressive individuals exhibited elevated levels of TNF-α, IL-6, IL-8, IL-13, TNF-α, IFN-γ, vasopressin, and epidermal growth factor (EGF), suggesting a pro-inflammatory state. Neuroimaging revealed distinct volume differences between patients with high- compared to medium-aggression, with enlargements in the anterior cingulate cortex, orbitofrontal cortex, and hippocampus and reductions in the amygdala, insula, and basal ganglia. Spatial transcriptomics identified two gene expression clusters: regions associated with emotional regulation exhibit overexpression of pro-inflammatory genes. In contrast, sensory and cognitive regions have relative anti-inflammatory gene upregulation, potentially reflective of a compensatory mechanism. CONCLUSIONS: This study identifies a complex interplay between heightened neuroinflammation and structural brain differences related to gene expression patterns in aggressive ASD. The findings suggest that aggression is associated with imbalances in the fronto-limbic-striatal network, compounded by a pervasive pro-inflammatory state. These insights highlight the potential for targeted interventions integrating behavioural therapies with adjunctive treatments addressing neuroinflammation and neural dysregulation. Future research should explore longitudinal dynamics, genetic and environmental influences, and broader ASD populations to develop personalized strategies for managing aggression in ASD.

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5. Chen X, Peng J, Zhang Z, Song Q, Li D, Zhai G, Fu W, Shu Z. Constructing a predictive model for children with autism spectrum disorder based on whole brain magnetic resonance radiomics: a machine learning study. AJNR Am J Neuroradiol;2025 (Jul 28)

BACKGROUND AND PURPOSE: Autism spectrum disorder (ASD) diagnosis remains challenging and could benefit from objective imaging-based approaches. This study aimed to construct a prediction model using whole-brain imaging radiomics and machine learning to identify children with ASD. MATERIALS AND METHODS: We analyzed 223 subjects (120 with ASD) from the ABIDE database, randomly divided into training and test sets (7:3 ratio), and an independent external test set of 87 participants from Georgetown University and University of Miami. Radiomics features were extracted from white matter, gray matter, and cerebrospinal fluid from whole-brain MR images. After feature dimensionality reduction, we screened clinical predictors using multivariate logistic regression and combined them with radiomics signatures to build machine learning models. Model performance was evaluated using ROC curves and by stratifying subjects into risk subgroups. RESULTS: Radiomics markers achieved AUCs of 0.78, 0.75, and 0.74 in training, test, and external test sets, respectively. Verbal intelligence quotient(VIQ) emerged as a significant ASD predictor. The decision tree algorithm with radiomics markers performed best, with AUCs of 0.87, 0.84, and 0.83; sensitivities of 0.89, 0.84, and 0.86; and specificities of 0.70, 0.63, and 0.66 in the three datasets, respectively. Risk stratification using a cut-off value of 0.4285 showed significant differences in ASD prevalence between subgroups across all datasets (training: χ(2)=21.325; test: χ(2)=5.379; external test: χ(2)=21.52m, P<0.05). CONCLUSIONS: A radiomics signature based on whole-brain MRI features can effectively identify ASD, with performance enhanced by incorporating VIQ data and using a decision tree algorithm, providing a potential adaptive strategy for clinical practice. ABBREVIATIONS: ASD = Autism Spectrum Disorder; MRI = Magnetic Resonance Imaging; SVM = support vector machine; KNN = K-nearest neighbor; VIQ = Verbal intelligence quotient; FIQ = Full-Scale intelligence quotient; ROC = Receiver Operating Characteristic; AUC = Area under Curve.

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6. Davis A, Chu S, Scott L, Mohiuddin S. Use of COACH for Autism Screening in Speech and Language Pathology Evaluations; Preliminary Outcomes. J Autism Dev Disord;2025 (Jul 26)

PURPOSE: This brief report investigates whether the use of a novel screening tool (Clinical Observation for Autism CHecklist – COACH) developed for use in speech-language pathology (SLP) evaluations improves the identification and documentation of autism traits in SLP evaluations and decreases wait times for diagnostic evaluation for autism spectrum disorder (ASD). METHOD: 28 patients aged 16-56 months identified by SLP as having increased suspicion for ASD were retrospectively identified by chart review. 14 of the patients were evaluated by SLP who utilized the COACH tool and subsequently referred the patient for ASD diagnostic evaluation (pilot/investigation group). 14 of the patients were referred for ASD diagnostic evaluation through standard diagnostic pathways (standard/control group). RESULTS: Both groups demonstrated high rate of diagnostic consensus (93%); there were significantly shorter wait times for ASD diagnostic evaluation in the pilot (investigation) group vs. standard pathway (control) group (4.85 ± 3.21 weeks vs. 38.21 ± 14.93 weeks). Female and racial/ethnic minority children were also proportionally more likely to be identified in the pilot group compared to the standard pathway group. CONCLUSION: These results demonstrate that SLPs who utilize a standardized tool specific to identifying/documenting ASD traits demonstrate a high degree of diagnostic consensus with subspecialty ASD diagnostic evaluation. Earlier identification by SLP may lead to decreased wait time for formal diagnosis and identification of ASD in traditionally under-diagnosed populations.

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7. Fabio RA, Giannatiempo S, Perina M. At-School Telerehabilitation for Rett Syndrome: Support Teachers Driving Cognitive and Communication Progress in a Randomized Trial. Children (Basel);2025 (Jul 14);12(7)

Background/Objectives: This exploratory study examined the potential effectiveness of cognitive enhancement interventions targeting basic cognitive prerequisites and communicative abilities in girls with Rett syndrome. Special attention was given to evaluating telerehabilitation as a feasible alternative to traditional in-person therapy, particularly for individuals with severe impairments and limited access to care. Methods: Twenty-four girls diagnosed with Rett syndrome (mean age = 13.7 years, SD = 7.1), all meeting the basic cognitive prerequisites defined by the GAIRS scale, were randomly assigned to two groups: a telerehabilitation group (n = 12) and an in-person rehabilitation group (n = 12). Interventions were delivered in school settings and focused on two core areas: basic cognitive skills (e.g., object recognition, spatial and temporal concepts, form and color discrimination, and cause-effect reasoning) and communication skills (e.g., comprehension and expression through gestures, images, or verbal output). Results: Both groups showed significant improvements in the cognitive and communicative domains, with generally comparable outcomes. Notably, the telerehabilitation group demonstrated relatively greater gains in verbal expression and cause-effect understanding. Correlational analyses indicated positive associations between the cognitive and communicative improvements, particularly between spatial understanding and expressive abilities. However, these findings should be interpreted with caution due to the sample size and study design limitations. Conclusions: These preliminary findings suggest that cognitive enhancement programs may support developmental gains in girls with Rett syndrome and that telerehabilitation could represent a viable alternative for those unable to access in-person care. Given the limited sample size and absence of qualitative measures, further research is necessary to validate its effectiveness and understand its role within comprehensive care models.

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8. Ferretti LA, Uhl A, Zawacki J, McCallion P. Understanding Barriers and Facilitators of Parent/Caregiver Involvement in Home-Based Applied Behavioral Analysis Programming for Their Autistic Child. Children (Basel);2025 (Jun 27);12(7)

There is a need for more attention to the importance of substantial parent involvement in programming for autistic children in community-based care. More encouragement is needed to ensure that practitioners prioritize parental training and involvement throughout interventions, including practitioner-led in-home applied behavioral analysis (ABA) interventions. There has been little to no research on the feasibility and efficacy of adding parental training to in-home practitioner-led ABA interventions. This study is intended to begin the consideration of efficacy by reporting on a series of focus groups involving parents of autistic children and the Board Certified Behavioral Analysts (BCBAs) and Registered Behavior Technicians (RBTs) who work with them. Method: Focus group meetings were conducted with a total of 18 participants: 7 family members, 5 RBTs, and 6 BCBAs drawn from two provider sites. Transcripts were generated, and data was analyzed using Braun & Clarke’s reflexive thematic analysis, a method for analyzing and interpreting qualitative data that involves systematically generating codes in order to develop themes. Findings: The findings are described using three main themes: (1) barriers to family involvement in applied behavioral analysis programming, (2) facilitators of family involvement in applied behavioral analysis programming, and (3) recommendations for improving family involvement in applied behavioral analysis programming. Conclusions: There are logistical challenges in involving parents in in-home interventions when they occur in evening hours when the family has multiple other responsibilities. However, being in-home also presents opportunities not available in school or clinic settings. The recommendations provided offer an initial road map to advancing parent training components.

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9. García-Villamisar D, Álvarez-Couto M, Sáez-Suanes GP. Understanding Mental Health in Autism: A Lifespan Perspective. Brain Sci;2025 (Jul 21);15(7)

Understanding and studying the mental health of people with ASD across the spectrum, from childhood to adulthood, is undoubtedly a pressing need and a challenge […].

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10. Garcini LM, Gonzalez KO, DeBellis L, Mulford S, Kodavatikanti E, Buchwald E, Edwards AP, Olson-Salas D, Reat C, Oyeleye O, Jeter C. Breaking the silence: A systematic review of methodology and findings of studies on bereavement among adults with intellectual and developmental disabilities. Death Stud;2025 (Jul 29):1-21.

This study systematically reviewed the methodology and findings of 28 peer-reviewed studies on the experiences of loss, grief, and bereavement among adults with intellectual & developmental disabilities (IDD). Of these studies, five included quantitative data, 11 were qualitative studies, and 12 utilized mixed methods. Furthermore, eight of the included studies were interventions, focused on understanding grief among adults with IDD, including identifying risk- and protective-factors in the face of bereavement. Overall, results showed significant gaps in knowledge about the bereavement process among adults with IDD, and the need for more inclusive studies with increased methodological rigor. Significant themes from the studies included the relevance of understanding the concept of death, communicating about loss/death, symptoms of bereavement, coping strategies, sources of support for adults with IDD, and improving bereavement training for caregivers and staff to adults with IDD. Risk factors associated with diminished health outcomes in the face of bereavement included greater cognitive impairment and exclusion from: (a) funerals and loss rituals, (b) conversations regarding loss and death, and (c) advanced planning and end of life decisions. Effective bereavement coping strategies identified included: (a) spending time with and talking to family or friends, (b) engaging in relaxing activities, such as breathing exercises, listening to music, and/or spiritual engagement, and (c) engaging in creative activities, such as painting, drawing, or storytelling. This review highlights areas for future research to fill existing gaps in knowledge, which is needed to support the health and well-being of adults with IDD when they experience loss.

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11. George B, Padmam MSR, Nair MKC, Leena ML, Scaria LM, Prasanna GL, Neethu T, Shahida AS, Bhaskaran D, Russell PSS. Childhood Autism Tool – Trivandrum (CAT-T) – Development and Validation. Indian J Pediatr;2025 (Jul 29)

OBJECTIVES: To develop and validate a culturally appropriate measure for the diagnosis of ASD among children between 2 and 6 y of age in Kerala. METHODS: This qualitative study was conducted among 200 children who were consecutively recruited over a period of 18 mo. The development of the new measure was based on the Consensus based Standards for the selection of health Measurement Instruments (COSMIN) protocol. The face and content validity were already established while developing the measure. The convergent and divergent validity of CAT-T were measured against Childhood Autism Rating Scale (CARS) and Vineland Social Maturity Scale (VSMS) respectively. The construct validity of CAT-T was evaluated using exploratory factor analysis. RESULTS: A 39-item measure was developed by using the 8 steps recommended for psychosocial measure development. The 39 items of the tool were subjected to factor analysis and finally a tool having 24 items was developed (CAT-T). Convergent validity of the measure with CARS (r = 0.67, p = 0.0001) and divergent validity with VSMS (r = -0.50, p = 0.0001) were moderate. The tool has good test retest reliability (ICC = 0.86), inter rater reliability (ICC = 0.89), and internal consistency of 24-item CAT-T was very high (Cronbach’s alpha = 0.86). The construct validity of CAT-T demonstrated a 7- factor structure that explained 66.22% of the variance. CONCLUSIONS: A 24-item final measure, the Childhood Autism Tool-Trivandrum (CAT-T), was developed. The measure CAT-T has adequate validity and reliability parameters.

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12. Ghiglino D, Floris F, De Tommaso D, Russi NS, Frulli A, Moretti S, Wykowska A. Enhancing theory of mind in autism through humanoid robot interaction in a randomized controlled trial. Sci Rep;2025 (Jul 29);15(1):27650.

Autism Spectrum Disorder presents significant challenges in social cognition, particularly in understanding others’ thoughts, emotions, and intentions. Traditional interventions often rely on role-playing games with human therapists or inanimate objects, but these approaches may lack consistency and ecological validity. This study integrated Applied Behavior Analysis principles with robot-assisted training to improve social cognition in children with autism. A randomized, two-period crossover trial involving 32 children (mean age = 7.53 ± 1.32 years, 7 females) compared robot-assisted training using the humanoid robot iCub with standard therapy and an active human-assisted control condition. During robot-assisted sessions, children engaged in structured social role-play scenarios, practicing essential social skills such as perspective-taking, joint attention, and recognizing intentions. The robot’s human-like appearance and adaptive behavior provided an engaging, predictable learning environment. Results indicated that robot-assisted training significantly improved social cognition, in contrast to traditional therapy and the human-assisted control group, where no improvements were found. Importantly, the active human control confirmed that these improvements were driven by the robot’s presence rather than the protocol itself. These findings demonstrate the potential of humanoid robots as effective therapeutic tools for enhancing social skills in children with autism, offering a scalable and engaging complement to existing clinical practices. Clinical Trial Registration: ISRCTN15341724, registered on May 6, 2025. Available at: https://www.isrctn.com/ISRCTN15341724 .

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13. Giuliano VO, Sacchettino L, Rusu AS, Ciccarelli D, Gazzano V, de Cesare M, Visone M, Mizzoni V, Napolitano F, d’Angelo D. Well-Being Indicators in Autistic Children and Therapy Dogs During a Group Intervention: A Pilot Study. Animals (Basel);2025 (Jul 10);15(14)

Animal-assisted services (AAS) have been shown in multiple studies to improve a range of human psychological and physical health benefits. The aim of this pilot study is to investigate simultaneously two psycho-physiological indicators of the valence of interactions in the context of dog-assisted activities in children diagnosed with autism spectrum disorder. Ten children and four dogs experienced in AAS were involved, lasting 90 days, in weekly one-hour sessions. Before and after each session, saliva was taken in both dogs and children for determination of salivary oxytocin and cortisol levels. In addition, at the end of the program, a questionnaire was administered to both parents and dog handlers to assess the impact of AAS in children and dogs. Our results revealed no statistically significant change in cortisol and oxytocin levels in dogs enrolled throughout the sessions, while an increasing trend was noted for salivary oxytocin in 50% of the dogs and for salivary cortisol in all dogs at the end of the AAS, when compared to the pre-AAS. Salivary cortisol measurement in children with an autistic neurotype highlighted a statistically significant increase at the end of the AAS when compared to the pre-AAS, but this was not observed for oxytocin level evaluations. Regarding the perception of the children’s parents about the effects of the program, our data reported an improvement in sociability of the children in 100 percent of the cases. Furthermore, dog handlers reported an absence of signs of stress in their dogs during the sessions. Although the perceived effectiveness and quality of AAS has been demonstrated in the literature, the need to carefully select the dogs involved, considering their skills and needs, is critical to ensure their well-being in various therapeutic settings.

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14. Goldthorp K, Henderson B, Yogarajah P, Gardiner B, McGinnity TM, Nicholas B, Wimpory DC. Increased Temporal Variability of Gait in ASD: A Motion Capture and Machine Learning Analysis. Biology (Basel);2025 (Jul 8);14(7)

Motor deficits, including atypical gait, are common in individuals with autism spectrum disorder (ASD), although the precise nature and cause of this co-occurrence is unclear. Because walking is a natural activity and gait timing is a metric that is relatively accessible to measurement, we explored whether autistic gait could be described solely in terms of the timing of gait parameters. The aim was to establish whether temporal analysis, including machine learning models, could be used as a group classifier between ASD and typically developing (TD) individuals. Thus, we performed a high-resolution temporal analysis of gait on two age-matched groups of male participants: one group with high-functioning ASD and a comparison TD group (each N = 16, age range 7 to 35 years). The primary data were collected using a VICON(®) 3D motion analysis system. Significant increased temporal variability of all gait parameters tested was observed for the ASD group compared to the TD group (p < 0.001). Further machine learning analysis showed that the temporal variability of gait could be used as a group classifier for ASD. Of the twelve models tested, the best-fitting model type was random forest. The temporal analysis of gait with machine learning algorithms may be useful as a future ASD diagnostic aid.

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15. Goodrich AJ, Tancredi DJ, Ludeña YJ, Roudneva E, Schmidt RJ, Hertz-Picciotto I, Bennett DH. Pet Flea and Tick Control Exposure During Pregnancy and Early Life Associated with Decreased Cognitive and Adaptive Behaviors in Children with Developmental Delay and Autism Spectrum Disorder. Int J Environ Res Public Health;2025 (Jul 19);22(7)

Approximately 18% of U.S. children experience cognitive and behavioral challenges, with both genetic and environmental contributors. We examined if household insecticides, particularly those used in and around the home and on pets, are associated with neurodevelopmental changes. Data were from children aged 24-60 months in the CHARGE study with the following classifications: autism spectrum disorder (ASD, n = 810), developmental delay (DD, n = 192), and typical development (TD, n = 531). Exposure to indoor, outdoor, and pet insecticides was reported for the period from three months pre-conception to the second birthday. Cognitive and adaptive functioning were assessed using the Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales. Linear regression was used to evaluate associations by diagnostic group, adjusting for confounders. Flea/tick soaps, shampoos, and powders used during year two were significantly associated with lower cognitive and adaptive scores in children with ASD after FDR correction. Flea/tick skin treatments in early pregnancy were associated with reduced scores in the DD group, though not significant after correction, especially when used with high frequency. No associations were observed in TD children. These findings underscore the need to examine early-life exposure to non-agricultural insecticides as modifiable risk factors for neurodevelopment.

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16. Gray M, McCarthy J, Mawren D, Cooper S, Simms C, Pathé M. A descriptive study of young people with Autism Spectrum Disorder referred to a Fixated Threat Assessment Centre. Psychiatr Psychol Law;2025;32(4):632-644.

This study examines a cohort of persons aged 14 to 25 years referred to a threat assessment centre in Australia due to concerns regarding their potential for extremist or other grievance-fuelled violence. It examines the demographic features, clinical comorbidities and threat profile of this cohort and compares cases with and without a diagnosis of Autism Spectrum Disorder (ASD). The findings suggest that young people with ASD are significantly overrepresented, compared to the population rate, with late diagnosis and complex, unmet needs. The services required to mitigate risk were predominantly mainstream disability and mental health programs, not specialised forensic interventions. These exploratory findings have broader implications for improved provision of autism-specific services to prevent this vulnerable group entering the justice system.

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17. Han JY. Polymorphisms in CACNA1A, CACNA1C, and CACNA1H Genes in Korean Pediatric Patients with Developmental Delay and Intellectual Disability: A Focus on Epilepsy Comorbidity. Genes (Basel);2025 (Jun 29);16(7)

Background: Developmental delay and intellectual disability (DD/ID) are frequently accompanied by epilepsy, and growing evidence implicates variants in voltage-gated calcium channel genes in their pathogenesis. This study aimed to investigate the association of polymorphisms in CACNA1A, CACNA1C, and CACNA1H with DD/ID and epilepsy comorbidity in Korean children. Methods: We retrospectively analyzed 141 pediatric patients diagnosed with DD/ID who underwent whole-exome sequencing (WES) and were not found to have pathogenic monogenic variants. Nine single-nucleotide polymorphisms (SNPs) across CACNA1A, CACNA1C, and CACNA1H were selected based on functional annotation scores and prior literature. Genotype data were extracted from WES variant files, and allele and genotype frequencies were compared with control data from the gnomAD East Asian population and the Korean Reference Genome Database (KRGDB). Subgroup analyses were performed according to epilepsy comorbidity. Results: The CACNA1A rs16023 variant showed a significantly higher B allele frequency in DD/ID patients than in both control datasets and was also associated with epilepsy comorbidity. Genotype distribution analysis revealed that the BB genotype of rs16023 was more frequent in patients with epilepsy. Conclusions: The CACNA1A rs16023 variant may contribute to genetic susceptibility to DD/ID and epilepsy in Korean children, potentially through regulatory mechanisms. These findings support the relevance of calcium channel genes in neurodevelopmental disorders and highlight the importance of integrating functional annotation in variant prioritization.

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18. Harner C, Gaffey TA, Sullivan SS, Witmans M, DelRosso LM, Tablizo MA. Sleep Disorders in Children with Rett Syndrome. Children (Basel);2025 (Jun 30);12(7)

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder marked by neurological regression, autonomic dysfunction, seizures, and significant sleep and breathing abnormalities. About 80% of affected individuals, especially young children, experience sleep disturbances such as insomnia, sleep-disordered breathing, nocturnal vocalizations, bruxism, and seizures. Breathing irregularities during sleep-like apnea, alternating hyperventilation, and hypoventilation-are common, with both obstructive and central sleep apnea identified through polysomnography. This review focuses on the prevalent sleep disorders in children with Rett syndrome and highlights current recommendations for the management of sleep disorders.

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19. Hasan H, Biag HMB, Santos ER, Randol JL, Ring R, Tassone F, Hagerman PJ, Hagerman RJ. Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations. Int J Mol Sci;2025 (Jul 16);26(14)

The study’s aim was to evaluate electroretinographic (ERG) alterations in Fragile X syndrome (FXS), FMR1 premutation carriers, and controls, and to explore correlations with peripheral blood FMRP expression levels and behavioral outcomes. ERG recordings were obtained using a handheld device across three stimulus protocols in 43 premutation carriers, 39 individuals with FXS, and 23 controls. Peripheral blood FMRP expression levels were quantified using TR-FRET (Time-Resolved Fluorescence Resonance Energy Transfer). Correlations were assessed with cognitive and behavioral measures including IQ (Intelligence Quotient), ABC(FX) (Aberrant Behavior Checklist for Fragile X Syndrome), SNAP-IV (Swanson, Nolan, and Pelham Teacher and Parent Rating Scale), SEQ (Sensory Experiences Questionnaire), ADAMS (Anxiety, Depression, and Mood Scale), and the Vineland III Adaptive Behavior Scale standard score. Significant group differences were observed in multiple ERG parameters, particularly in 2 Hz b-wave amplitude (p = 0.0081), 2 Hz b-wave time to peak (p = 0.0164), 28.3 Hz flash combined amplitude (p = 0.0139), 3.4 Hz red/blue flash b-wave amplitude (p = 0.0026), and PhNR amplitude (p = 0.0026), indicating both outer and inner retinal dysfunction in FXS and premutation groups. Despite high test-retest reliability for ERG (ICC range = 0.71-0.92) and FMRP (ICC = 0.70), no correlation was found between ERG metrics and FMRP or behavioral measures. However, FMRP levels strongly correlated with IQ (ρ = 0.69, p < 0.0001) and inversely with behavioral impairment [ABC(FX) (ρ = -0.47, p = 0.0041), SNAP-IV (ρ = -0.48, p = 0.0039), SEQ (ρ = -0.43, p = 0.0146), and the Vineland III standard score (ρ = 0.56, p = 0.0019)]. ERG reveals distinct retinal functional abnormalities in FMR1-related conditions but does not correlate with peripheral FMRP expression levels, highlighting the need for multimodal biomarkers integrating radiological, physiological, behavioral, and molecular measures.

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20. Huntjens A, Smit F, van den Bosch L, Kerkhof A, Sizoo B, van der Gaag M. Emotion regulation as a mediator of dialectical behaviour therapy for autistic adults with suicidal ideation. Cogn Behav Ther;2025 (Jul 29):1-15.

Dialectical behaviour therapy (DBT) effectively reduces suicidality in autism by improving emotion regulation (ER), yet its underlying therapeutic mechanism is unclear. This study explores ER factors as mediators in DBT’s impact on suicidal ideation in autistic individuals. Data from 123 adult outpatients with autism and suicidal behaviours were randomly assigned to DBT (n = 63) or treatment as usual (n = 60). Suicidal ideation was assessed using the Suicidal Ideation Attributes Scale, and six ER factors were measured with the Difficulties in Emotion Regulation Scale. Structural equation modelling compared a non-sequential model with a sequential model targeting ER factors in the following order: reducing suicide risk, enhancing emotional awareness, consolidating skills, and aligning coping strategies with long-term goals. ER mediated 67% of the total treatment effect. In the non-sequential mediation model, path coefficients were generally small (β ≤ 0.32) and largely not significant. Conversely, in the sequential model, path coefficients were stronger (range: 0.23 ≤ β ≤ 0.92) and all statistically significant (p < 0.01). DBT effectively reduces suicidal behaviour in autistic individuals, with ER playing a profound mediating role. Sequential targeting of ER factors cascades the therapeutic process, highlighting the importance of structured intervention.

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21. Huzard D, Oliva G, Marias M, Granat C, Soubeyre V, do Nascimento Pereira G, Negm A, Grellier G, Devaux J, Bourinet E, François A. Primary sensory neuron dysfunction underlying mechanical itch hypersensitivity in a Shank3 mouse model of autism. Transl Psychiatry;2025 (Jul 28);15(1):259.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder marked by social deficits, repetitive behaviors and atypical sensory perception. The link between ASD and skin abnormalities, inducing itchiness, has never been investigated in depth. This study explores mechanical itch sensitivity in the Shank3(ΔC/ΔC) mouse model. Key observations include heightened scratching in response to skin deformation and hypersensitivity to mechanical itch (i.e. alloknesis) in Shank3(ΔC/ΔC) mice. In Shank3(ΔC/ΔC) mice, ex vivo electrophysiological experiments revealed that C-fiber low-threshold mechanoreceptors (C-LTMRs) were hyporesponsive and transcriptomic analysis showed a downregulation of TAFA4, a protein secreted by C-LMTRs. Interestingly, pharmacologically inhibiting Aβ-LTMR, important in mechanical itch initiation, abolished the itch hypersensitivity. Also, TAFA4 injections reduced the spontaneous scratching response to skin deformation but failed to restore itch sensitivity. Our data suggest that somatosensory deficits in Shank3(ΔC/ΔC) mice lead to a hypersensitivity to itchiness and indicate that two pathways might be regulating mechanical itchiness, dependent or not on TAFA4.

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22. Jiao JP, Zhang HW, Zhou XZ, Tian SJ, Gao L, Li BM, Luo JX, Wang J, Lan S, Li B, Liao WP. Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay. Orphanet J Rare Dis;2025 (Jul 28);20(1):380.

BACKGROUND: The SLC9A6 gene encodes a monovalent sodium-selective sodium/hydrogen exchanger that is essential in regulating endosomal PH and volume. SLC9A6 variants are associated with Christianson Syndrome, a severe neurodevelopmental disorder that is accompanied by seizures. It is unknown whether SLC9A6 variants are associated with milder phenotypes. METHOD: Trio-based whole-exome sequencing was performed in unrelated cases (families) with epilepsy without acquired causes. Previously reported SLC9A6 variants were reviewed to analyze the mechanism underlying phenotype variations. RESULTS: Five hemizygous variants, including three null and two missense variants, were identified in five males. All the variants were absent in the gnomAD-all populations and the missense variants were predicted to be damaging by multiple in silico tools. The three patients with null variants presented with refractory epilepsies and severe developmental delay; one patient with missense variant in the transmembrane region showed refractory epilepsies and speech delay; and one patient harboring missense variant located in the loop region achieved seizure-free with favorable outcome. Further analysis revealed that the proportions of brain atrophy, microcephaly, and movement disorders in patients with missense variants were significantly lower than that of patients with null variants, suggesting a genotype-phenotype correlation. Additionally, previously reported missense variants in the pore/transmembrane region led to Christianson Syndrome, whereas variants outside these regions were associated with milder phenotype, suggesting a sub-regional effect. CONCLUSION: Missense variants in SLC9A6 are associated with mild partial epilepsies. The genotype-phenotype correlation and molecular sub-regional effect of SLC9A6 help in explaining the mechanisms underlying phenotypic variations.

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23. Kao C, Lim KK, Chen ES. Emerging Epigenetic Therapeutics and Diagnostics for Autism Spectrum Disorder. Curr Issues Mol Biol;2025 (Jun 27);47(7)

Autism spectrum disorder (ASD) is a complex neurological and developmental condition that occurs in approximately 1 in 100 children. ASD is a lifelong condition defined by difficulties with social communication, restricted interests, and repetitive behaviors, among other symptoms. Currently, we understand that there is no cure and the disorder can only be managed with occupational therapy alongside limited medical treatments. Reasons underlying the pathogenesis of ASD are still not well understood, but recent studies point to the influence of epigenetic dysregulation in ASD development, which opens up avenues to novel diagnosis and treatment options. In this review, we summarize recent findings and emerging therapeutics for ASD, with a focus on implications of epigenetic regulatory pathways and factors. We expound the implications of these findings to enable preventive measurements for mothers to reduce the impact of ASD at birth, non-invasive diagnostic tests for early detection, and personalized medicine management. Finally, we discuss several critical issues to be addressed and future directions of this important research field.

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24. Karakale Ö, Nelson N, Gredelj A, Ryan KJ, Bayindir A. Prior contextual information and autistic traits influence eye gaze behaviour and emotional valence ratings for facial expressions. Sci Rep;2025 (Jul 29);15(1):27574.

This study examined the influence of social top-down information on eye-gaze behaviour and valence perception in individuals with higher and lower autistic traits. Data from 57 participants (37 identified as female, 18 as male, 2 as non-binary; M = 21.33 years, SD = 4.35) were analysed. Participants rated the valence of facial expressions depicting different intensities of emotions across three contexts while an eye-tracker recorded their gaze behaviour. In the no-context condition, participants observed neutral, joyful and angry faces without any background context; in the positive-context, they viewed neutral and joyful faces while imagining a dream-job offer scenario; and in the negative-context, they viewed neutral and angry faces while imagining a dream-job rejection scenario. Key findings included: (1) both the higher and lower autistic traits groups fixated longer on the eyes than the mouth across valence categories and contexts, with largest differences observed in the no-context condition, (2) the higher autistic traits group showed similar or longer eye fixations than the lower autistic traits group, with greater variability, and (3) the lower autistic traits group exhibited context-sensitive valence ratings, perceiving faces as more negative in positive and negative contexts than in no-context, whereas the higher autistic traits group showed no significant context effects. These results suggest that while both groups integrate prior information in sensory-driven processes like gaze behaviour, context-sensitive reflective judgments are more evident in individuals with lower autistic traits, highlighting trait-linked differences in predictive processing in social cognition.

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25. Katakis P, Frankson P, Lockwood Estrin G, Wolstencroft J, Mirzaei V, Sayani S, Skuse D, Heys M. Families’ and clinicians’ experiences with telehealth assessments for autism: A mixed-methods systematic review. PLOS Digit Health;2025 (Jul);4(7):e0000931.

Recently, the utilization of telehealth for the evaluation of autism spectrum disorder (ASD) in children has increased considerably. Although past studies have explored the feasibility and validity of telehealth assessment procedures for ASD, the acceptability and perspectives of families and clinicians regarding telehealth for autism evaluations have not yet been systematically examined. This mixed-methods systematic review aimed to synthesize the available evidence to understand the experiences of families and clinicians with telehealth. We followed the Joanna Briggs Institute methodology guidelines for conducting mixed-method systematic reviews using the convergent integrated approach. We searched relevant databases (EMBASE, MEDLINE, PsycINFO, CINAHL, ASSIA) and other sources (e.g., grey literature) to identify eligible articles (PROSPERO: CRD42022332500). Data from eligible studies were pooled and subjected to thematic synthesis. In total, 27 studies were included in this review, involving 1013 caregivers and 521 clinicians who shared their perceptions and experiences with telehealth. Overall, participants were highly satisfied with telehealth procedures and noted several advantages, including increased convenience, flexibility, and efficiency (e.g., reduced costs and travel time), improved service provision and access to timely care, and enhanced clinical effectiveness. However, certain disadvantages, such as technical difficulties, difficulties observing certain behaviors, perceived lack of accuracy, concerns about the family’s role and safeguarding issues, among others, were also reported. Telehealth was believed to improve equity for some families (i.e., geographically remote families) while potentially disadvantaging others (i.e., socioeconomically disadvantaged families and those with limited English proficiency). Children who were older, less active, less medically and psychosocially complex and those with a clearer presentation of ASD were considered more suitable for a telehealth evaluation for ASD. In conclusion, this review provides new insights into the experiences of families and clinicians with telehealth, highlighting its potential uses for ASD evaluations and identifying areas for improvement and future research.

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26. Keefer A, Perrin J, Ferrara I, Vasa RA. Intolerance of Uncertainty and Sensory Overreactivity: Potential Targets to Reduce Aggression in Young Autistic Children?. J Autism Dev Disord;2025 (Jul 26)

PURPOSE: Young autistic children (i.e., under 6 years old) are more likely to engage in frequent and severe aggression compared to non-autistic peers. Yet limited studies have examined aggression or its predictors in this age range. This cross-sectional study examined if intolerance of uncertainty (IU) and sensory over-reactivity (SOR), two mechanisms underlying internalizing conditions in autistic youth, are also associated with aggression in young, autistic children. METHODS: Data were analyzed from 59 autistic children aged 3 to 5 years-old from a larger study of anxiety phenomenology and correlates. Parents completed the Response to Uncertainty and Low Environmental Stability Scale (RULES), Short Sensory Profile-2 (SSP-2), and the Child Behavior Checklist (CBCL)-Aggressive Behavior Subscale to assess IU, SOR, and aggression, respectively. Child anxiety, which was examined as a potential confounding variable, was assessed using the Anxiety Disorders Interview Schedule-Parent Version with Autism Spectrum Addendum (ADIS/ASA). RESULTS: Multiple regression analysis revealed that IU and SOR were each positively associated with aggression while controlling for child anxiety and age. Although IU and SOR were moderately correlated, dominance analysis indicated they had moderate and relatively equivalent independent associations with aggression. CONCLUSIONS: Findings emphasize the need for further research investigating IU and SOR as predictors of aggression in young autistic children and as promising targets for aggression intervention and prevention.

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27. Key AP, McGonigle T, Liu J, Muscatello R, Gable P, White S, Lerner M, Corbett BA. Characterizing the Relationship Among the Social Competence Elements in Autistic Adolescents. Autism Res;2025 (Jul 29)

Individuals with autism spectrum disorder have significant difficulties in social competence. This study provided empirical evaluation of the theoretical model by Kennedy and Adolphs (2012) positing that social competence relies on an interconnected network of four components: social brain, cognition, behavior, and functioning. Data from 243 youth (69 female, 174 male), age 10-17 years, were used to test the hypothesized mediation effect of social cognition (Theory of Mind) from social brain (event-related potential markers of face perception and memory) to social behavior (Contextual Assessment of Social Skills) and functioning (Child Behavior Checklist). An additional analysis evaluated whether the structure of the social competence model varied based on the biological sex of the autistic participants. The findings support the conceptual model of social competence where the social brain’s contributions to social behavior and functioning are mediated by social cognition, with an additional direct path between the brain and behavior. The relationship among the four components of social competence is not significantly different for autistic males and females. Social competence is best represented as a network of direct and indirect connections among the neural, cognitive, and behavioral components. Thus, focusing on any single element is not sufficient for effective design of novel assessment and treatment approaches in autism. The findings also highlight the importance of self-initiated active engagement with social cues as a contributor to successful social behavior and functioning in autism.

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28. Khongpiboonkit R, Chaiyakit N, Wannapaschaiyong P, Sittanomai N. Prevalence and Factors Associated with Overweight and Obesity in Thai Children and Adolescents with Autism Spectrum Disorder: A Retrospective Longitudinal Study. J Autism Dev Disord;2025 (Jul 26)

Children with Autism Spectrum Disorder (ASD) exhibit higher rates of overweight/obesity compared to children without ASD, yet influencing factors remain inconclusive. This study aimed to evaluate the prevalence of overweight/obesity and identify associated factors within this population using longitudinal data. This retrospective longitudinal study analyzed 1,876 visits from 176 children and adolescents (aged 2-18 years) diagnosed with ASD attending a child psychiatric clinic between 2012 and 2018. World Health Organization (WHO) criteria defined weight status. Generalized Estimating Equations (GEE) and linear regression identified factors associated with overweight/obesity and Body Mass Index (BMI) Z-scores. The overall prevalence of overweight/obesity was 35%, increasing significantly from 27.3% (initial visit) to 37.5% (last visit), alongside rising BMI Z-scores (p < 0.001). Antipsychotics use showed a modest association with increased odds of overweight/obesity (Adjusted Odds Ratio [AdjOR] = 1.499, p = 0.049). Age (β = - 0.100, p = 0.037), stimulants use (β = - 0.312, p = 0.030) and mood disorders (β = - 0.982, p < 0.001) correlated with lower BMI Z-scores, while Attention-Deficit/Hyperactivity Disorder (ADHD) (β = 0.442, p = 0.027) correlated with higher scores. Children with ASD show higher prevalence of overweight and obesity than children without ASD. Identified associations between psychotropic medications, comorbid psychiatric conditions (mood disorders, ADHD), and weight status underscore the critical need for early psychiatric assessment, proactive weight monitoring, and tailored management strategies in this vulnerable population.

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29. Kushner EH, Holbrook CB, Hendrix NM, Douglas-Brown JD, Pickard KE. Addressing Emotional Dysregulation Within NDBI for Young Autistic Children: Outcomes and Factors Related to Change. Behav Sci (Basel);2025 (Jul 17);15(7)

Despite high rates of emotional dysregulation among autistic children, few studies have explored interventions addressing dysregulation. Naturalistic developmental behavioral interventions (NDBIs) are a class of interventions focused on supporting social communication. As social communication and emotion regulation skills emerge from similar developmental processes, NDBIs may be one approach for addressing dysregulation among autistic children. The present study sought to characterize change in dysregulation among one-hundred and eleven caregiver-child dyads completing Project ImPACT, a caregiver-mediated NDBI. Caregivers reported on child communication and social engagement using the Social Communication Checklist and emotion regulation using the Emotional Dysregulation Inventory-Young Child at the beginning and end of services. Clinicians reported on caregiver fidelity at each intervention session. Children showed reductions in emotional dysregulation throughout Project ImPACT, though reductions were specific to children who began the program with elevated dysregulation. Child social engagement at baseline and caregivers’ fidelity to specific strategies within Project ImPACT were associated with reductions in emotional dysregulation. Very few studies have tested interventions aimed at supporting emotion regulation among young autistic children. These findings demonstrate that NDBIs may support emotion regulation as well as social communication skills. Further incorporating support for emotion regulation in NDBI may address this critical gap without increasing service coordination for families.

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30. Loumi O, Andres CR. Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population. Int J Dev Neurosci;2025 (Aug);85(5):e70036.

Autism spectrum disorder (ASD) affects more than 80,000 children under the age of 18 in Algeria, making it a major public health problem. It is characterized by communication abnormalities, restricted and stereotyped behaviours and resistance to change. To date, scientific publications on autism in Algeria are very rare. This study proposes to report the clinical and paraclinical profiles of ASD children or young adults in an Algerian population, as well as the prenatal, perinatal and postnatal factors associated with ASD. We conducted an ambidirectional cohort study (retrospective and prospective) on 186 persons (143 boys and 43 girls) with a diagnosis of ASD who ranged in chronological age from 3 to 25 years (mean = 7 years 8 months; standard deviation = 3 years 9 months). Data were collected from medical records and patients interviews. The ASD diagnosis was carried out according to the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, revised, to the Diagnostic and Statistical Manual of Mental Disorders-5th Ed (DSM-5) criteria, the Childhood Autism Rating Scale (CARS), Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. Insomnia (36.6%) and attention-deficit/hyperactivity disorder (13%) were the main comorbidities associated with autism. Most of the children (63.4%) were treated following the Treatment and Education of Autistic and Related Communication Handicapped Children. The rate of prenatal, perinatal and postnatal risk factors was registered among the ASD population. The clinical features and comorbidities of autism present among the study group were similar to findings in individuals with ASD in other parts of the world.

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31. Martínez-Villamea S, Prada-García C, Benítez-Andrades JA, Quiroga-Sánchez E, García-Fernández R, Arias-Ramos N. Sleep Disturbances and Dietary Habits in Autism: A Comparative Analysis. J Autism Dev Disord;2025 (Jul 26)

This study investigates dietary patterns and sleep quality in children and adolescents on the autism spectrum, compared to non-autistic peers. It explores the relationship between dietary habits and sleep quality, aiming to identify modifiable factors that could enhance well-being in ASD individuals. A cross-sectional case-control study was conducted with 158 participants on the autism spectrum and 77 non-autistic individuals aged 6-17 years in Spain. Dietary patterns were assessed using a validated food frequency questionnaire, while sleep quality was measured with the Children’s Sleep Habits Questionnaire (CSHQ-SP) and Pittsburgh Sleep Quality Index (PSQI). Statistical analyses, including non-parametric tests and Spearman’s correlation, were performed to examine differences and associations. Children on the autism spectrum displayed higher sugar intake and lower consumption of fruits and vegetables compared to non-autistic peers. ASD adolescents consumed more sugary beverages, with less pronounced differences in other food categories. Sleep quality was significantly poorer in the ASD group across all age cohorts, characterized by increased sleep latency, parasomnias, and daytime dysfunction. Positive associations were found between fruit and vegetable intake and improved sleep quality in ASD children. Unexpectedly, adolescents on the autism spectrum showed a complex relationship between sugar consumption and sleep quality, indicating potential short-term benefits but long-term risks. This study highlights the interplay between diet and sleep quality in ASD populations. Interventions promoting healthier eating habits, such as increased fruit and vegetable intake and reduced sugar consumption, could improve sleep outcomes and overall well-being in this vulnerable population.

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32. Mirzaian CB, Smith R, Betz CL. An Examination of Health Care Transition Experiences Through Parents’ Reflections About Their Sons or Daughters Who Have Intellectual and Developmental Disabilities. Children (Basel);2025 (Jul 4);12(7)

BACKGROUND: As national and international reports reveal, significant health care transition (HCT) service disparities exist for youth and young adults with intellectual and developmental disabilities (YYAs with IDD). The development of the HCT model necessitates informed perspectives from a broad constituency, including consumers and families. Parents’ retrospective perspectives of their sons’ or daughters’ HCT experiences are presented to enlarge the understanding of the service need. METHODOLOGY: Eleven parents were recruited virtually from parent support/disability advocate groups via an email distribution list of the Children’s Hospital Los Angeles University Center for Excellence in Developmental Disabilities. Parents who consented to participate were interviewed by phone using an interview guide with 11 open-ended items. Three questions focused on the barriers and facilitators associated with the HCT experience are reported. FINDINGS: Four major themes were generated from the analysis of data gathered from parents pertaining to their sons’ or daughters’ health care transition experiences, focusing on the transfer of care. Two major themes were related to HCT barriers-Pediatric Care Contrasted with Adult-Focused Care and Transfer of Care Barriers-and two were related to HCT facilitators-Transfer of Care Facilitators and Transfer of Care Recommendations. Each of the major themes included subthemes. CONCLUSIONS: Parents openly shared their sons’ or daughters’ HCT experiences, which illuminated the scope of their challenges and the assistance received. These insights provide rich descriptions of the barriers they and their adult children faced as they proceeded with navigating new systems of health care. The reported data find support in other previously conducted studies.

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33. Moise M, Andrei LE, Mihailescu I, Buica AM, Rad F. Aggression and Risk Behaviors in a Group of Adolescents with High-Functioning Autism. Children (Basel);2025 (Jun 27);12(7)

BACKGROUND/OBJECTIVES: Aggression in adolescents with autism, particularly those with high-functioning autism (HFA), presents a unique clinical profile. The aim of this study was to assess and compare anger expression and regulation in adolescents with HFA, those diagnosed with conduct disorder (CD), and a control group with no psychiatric diagnoses. METHODS: A total of 120 adolescents aged 14-17 were divided into three equal groups: 40 with HFA, 40 with CD, and 40 controls. Participants were assessed using the State-Trait Anger Expression Inventory (STAXI-2), which measures emotional intensity, trait predisposition, and modes of anger expression and control. Non-parametric statistical analyses were conducted to examine group differences. RESULTS: Statistically significant differences were found across most STAXI-2 scales. Adolescents with CD exhibited the highest scores on anger intensity and expression, followed-at a lower level-by those with HFA. The autism group showed significantly elevated levels of verbal anger expression and frustration reactivity compared to controls, but lower tendencies for physical aggression. Trait anger was also higher in the HFA group, particularly in response to frustration or criticism. No significant differences were found between the HFA and control groups on anger control scales individually; however, the overall Anger Expression Index was significantly elevated in HFA, reflecting a global imbalance between anger expression and regulation. CONCLUSIONS: Adolescents with high-functioning autism exhibit a distinct profile of emotional dysregulation, characterized by increased verbal anger and frustration sensitivity, despite lower levels of overt aggression. This comparative pilot study contributes to a better understanding of emotional dysregulation and anger expression in adolescents with HFA. These findings highlight the need for tailored emotion regulation interventions. School-based programs focused on emotional awareness and verbal anger management could offer meaningful benefits for this population. Future research should expand sample diversity, explore gender differences, include common comorbidities like ADHD, and investigate longitudinal and neurobiological patterns of anger regulation in ASD.

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34. Noor A, Almukhalfi H, Souza A, Noor TH. Harnessing YOLOv11 for Enhanced Detection of Typical Autism Spectrum Disorder Behaviors Through Body Movements. Diagnostics (Basel);2025 (Jul 15);15(14)

Background/Objectives: Repetitive behaviors such as hand flapping, body rocking, and head shaking characterize Autism Spectrum Disorder (ASD) while functioning as early signs of neurodevelopmental variations. Traditional diagnostic procedures require extensive manual observation, which takes significant time, produces subjective results, and remains unavailable to many regions. The research introduces a real-time system for the detection of ASD-typical behaviors by analyzing body movements through the You Only Look Once (YOLOv11) deep learning model. Methods: The system’s multi-layered design integrates monitoring, network, cloud, and typical ASD behavior detection layers to facilitate real-time video acquisition, wireless data transfer, and cloud analysis along with ASD-typical behavior classification. We gathered and annotated our own dataset comprising 72 videos, yielding a total of 13,640 images representing four behavior classes that include hand flapping, body rocking, head shaking, and non_autistic. Results: YOLOv11 demonstrates superior performance compared to baseline models like the sub-sampling (CNN) (MobileNet-SSD) and Long Short-Term Memory (LSTM) by achieving 99% accuracy along with 96% precision and 97% in recall and the F1-score. Conclusions: The results indicate that our system provides a scalable solution for real-time ASD screening, which might help clinicians, educators, and caregivers with early intervention, as well as ongoing behavioral monitoring.

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35. Patel H, Shrimali AL, McDougle CJ, Carroll HM. Acute Medical Events in Adults with Profound Autism: A Review and Illustrative Case Series. Brain Sci;2025 (Jul 10);15(7)

Background: Autism spectrum disorder (ASD) is associated with social-communication challenges that can hinder timely diagnosis and treatment during acute medical events (AMEs). The purpose of this report is to review the literature on medical comorbidities and AMEs in adults with profound ASD and highlight how healthcare teams can better understand atypical presentations of acute pain and discomfort in adults with profound ASD to reduce delayed diagnoses, delays in treatment, and ultimately improve health outcomes. Methods: The literature on medical comorbidities and AMEs in adults with profound ASD was reviewed using the following databases: PubMed, PsycINFO, and Google Scholar. The histories of three adults with profound ASD who experienced AMEs-specifically, appendicitis, nephrolithiasis, and eosinophilic esophagitis (EoE)-are described. The clinical cases were selected to illustrate the challenges inherent in diagnosing and treating AMEs in adults with profound ASD in the context of the review. Results: In Case 1, a 31-year-old male with autism was diagnosed with perforated appendicitis after his family noticed behavioral changes. In Case 2, a 36-year-old male with autism experienced intermittent pain from nephrolithiasis and communicated his discomfort through irritability and pointing. In Case 3, a 34-year-old male with autism exhibited atypical behavior due to pain from undiagnosed EoE, identified after years of untreated pain and multiple unsuccessful clinical procedures. Conclusions: This review and the illustrative cases demonstrate the significant role that communication barriers play in delayed medical diagnoses for adults with profound ASD during AMEs. Integrating caregiver insights and recognizing atypical pain expressions are essential for improving the accuracy and timeliness of diagnosis and treatment in this population.

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36. Politano D, Mancini C, Celario M, Radio FC, D’Abrusco F, Garau J, Kalantari S, Visani G, Carbonera S, Gana S, Ferilli M, Chiriatti L, Cappelletti C, Ellena K, Prodi E, Borgatti R, Valente EM, Orcesi S, Tartaglia M, Sirchia F. Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency. Genes (Basel);2025 (Jul 2);16(7)

BACKGROUND/OBJECTIVES: Neurodevelopmental disorders (NDDs) represent a clinically diverse group of conditions that affect brain development, often leading to varying degrees of functional impairment. Many NDDs, particularly syndromic forms, are caused by genetic mutations affecting critical cellular pathways. Ribosomopathies, a subgroup of NDDs, are linked to defects in ribosomal function, including those involving the synthesis of diphthamide, a post-translational modification of translation elongation factor 2 (eEF2). Loss-of-function (LoF) mutations in genes involved in diphthamide biosynthesis, such as DPH1, DPH2, and DPH5, result in developmental delay (DD), intellectual disability (ID), and multisystemic abnormalities. DPH5-related diphthamide deficiency syndrome has recently been reported as an ultrarare disorder linked to LoF mutations in DPH5, encoding a methyltransferase required for diphthamide synthesis. METHODS: Clinical, neurological, and dysmorphological evaluations were performed by a multidisciplinary team. Brain MRI was acquired on a 3T scanner. Craniofacial abnormalities were assessed using the GestaltMatcher phenotyping tool. Whole exome sequencing (WES) was conducted on leukocyte-derived DNA with a trio-based approach. Bioinformatic analyses included variant annotation, filtering, and pathogenicity prediction using established databases and tools. RESULTS: The affected subject carried a previously reported missense change, p.His260Arg, suggesting the occurrence of genotype-phenotype correlations and a hypomorphic behavior of the variant, likely explaining the overall milder phenotype compared to the previously reported patients with DPH5-related diphthamide deficiency syndrome. CONCLUSIONS: Overall, the co-occurrence of short stature, relative macrocephaly, congenital heart defects, variable DD/ID, minor skeletal and ectodermal features, and consistent craniofacial features suggests a differential diagnosis with Noonan syndrome and related phenotypes.

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37. Prato A, Randazzo M, Messina MA, Puglisi G, Aleo LR, Ciantia F, Cirnigliaro L, Rizzo R, Barone R. Clinical and Behavioral Correlates of Blood Acylcarnitine Profiles in Children with Autism Spectrum Disorder: A Cross-Sectional Analysis. Children (Basel);2025 (Jun 27);12(7)

Background/Objectives: Autism Spectrum Disorder (ASD) etiology is complex, involving genetics and environmental factors, and associated with impaired energy metabolism. Mitochondrial fatty acid oxidation (mFAO) is instrumental to energy production through the oxidation of acylcarnitines (ACs). We performed a comprehensive investigation of blood AC profiles in a pediatric ASD cohort, aiming to define ASD subgroups based on AC profiles and link these profiles to key clinical features and comorbidities using a phenotype-first approach. Methods: Blood levels of 31 ACs (μmol/L) collected from 102 ASD patients and 117 healthy controls (HCs) were evaluated via tandem mass spectrometry. The percentile distribution of blood AC levels in HC samples was computed to define the normal reference range (RR) and identify values corresponding to the 10th and 90th percentiles. Cognitive levels, emotional-behavioral disturbances and the severity of ASD symptoms (Autism Diagnostic Observation Schedule-Calibrated Severity Score ADOS-CSS) were assessed. Clinical correlates of ASD groups based on AC profiles were evaluated. Results: Three ASD subgroups were identified based on the percentile distribution of AC levels: group A (ACs < 10th percentile), group B (ACs 10th-90th percentile) and group C (ACs > 90th percentile) (abnormal AC number ≥ 3). Out of the thirty-one analyzed ACs in DBSs, fifteen (48.4%) were significantly different when comparing ASD group A to ASD group C. There was a significant difference in the severity of autism symptoms (ADOS CSS) related to the repetitive and restricted behaviors domain (CSS RRB) among the different groups (χ(2)(2) = 6.26; p = 0.044). The post hoc Dunn’s test with Bonferroni correction showed that ADOS-CSS RRB was significantly higher in ASD group A compared to ASD group B (p = 0.013). AC C14 was more frequently decreased (<10th pc) in patients with more severe symptoms (p = 0.006); C10:1 tended to be more frequently increased (>90th pc) in patients with lower clinical severity (p = 0.052). Conclusions: This study highlights differences across blood AC levels in children with ASD and conveys novel information on clinical severity in ASD patients with abnormal blood AC profiles. Thus, examining metabolic profiles may provide helpful insights to understand the variability of ASD symptoms.

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38. Pulliam G, Feldman JI, Wallace MT, Cutting LE, Woynaroski TG. Associations Between Audiovisual Integration and Reading Comprehension in Autistic and Non-autistic School-Aged Children. J Autism Dev Disord;2025 (Jul 26)

Although not considered a core feature of autism, autistic children often present with difficulties in reading comprehension, which is a multisensory process involving translation of print to speech sounds (i.e., decoding) and interpreting words in context (i.e., language comprehension). This study tested the hypothesis that audiovisual integration may explain individual differences in reading comprehension, through its relations with decoding and language comprehension, in autistic and non-autistic children. To test our hypothesis, we conducted a concurrent correlational study involving 50 autistic and 50 non-autistic school-aged children (8-17 years of age) matched at the group level on biological sex and chronological age. Participants completed a battery of tests probing their reading comprehension, decoding, and language comprehension, as well as a psychophysical task assessing audiovisual integration as indexed by susceptibility to the McGurk illusion. A series of regression analyses was carried out to test relations of interest. Audiovisual integration was significantly associated with reading comprehension, decoding, and language comprehension, with moderate-to-large effect sizes. Mediation analyses revealed that the relation between audiovisual integration and reading comprehension was completely mediated by decoding and language comprehension, with standardized indirect effects indicating significant mediation through both pathways. These associations did not vary according to diagnostic group. This work highlights the potential role of audiovisual integration in language and literacy development and underscores the potential for multisensory-based interventions to improve reading outcomes in autistic and non-autistic children. Future research should employ longitudinal designs and more diverse samples to replicate and extend these findings.

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39. Qiao J, Yan H, Wang Z, Zhang G, Xu G. The Autism Spectrum Disorder Subtypes Identification Based on Features of Structural and Functional Coupling. J Autism Dev Disord;2025 (Jul 29)

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by high clinical and biological heterogeneity. Identifying discrete ASD subtypes is crucial for understanding the neurobiological substrates and developing individualized treatments. However, most existing approaches focus solely on features from single modality, ignoring the valuable interaction information between multiple imaging modalities. In this study, we propose a novel approach that combines structural and functional neuroimaging data with semi-supervised learning techniques to cluster individuals with ASD into distinct subtypes. We aim to reveal quantitative biomarkers and elucidate the biological basis of ASD subgroups, potentially leading to improved diagnosis and targeted interventions. Diffusion tensor imaging (DTI) and functional magnetic resonance imaging (fMRI) data from 92 individuals with ASD and 65 neurotypical controls were collected from four independent sites within the Autism Brain Imaging Data Exchange (ABIDE) database. We initially integrated structural and functional MRI data through a skeleton-based white matter (WM) functional analysis, enabling voxel-wise function-structure coupling by projecting fMRI signals onto a WM skeleton. Subsequently, we employed WM low-frequency oscillations (LFOs) as input features for a clustering algorithm, aiming to categorize individuals with Autism Spectrum Disorder (ASD) into distinct neurological subgroups. Statistical analyses were performed to identify significant disparities in fractional anisotropy (FA), mean diffusivity (MD), and various clinical measures between these ASD subgroups and the control group. Additionally, we employed a support vector machine (SVM) to evaluate the potential of these subgroups to enhance diagnostic accuracy for ASD. Two neurosubtypes of ASD were identified. Subtype 1 displayed significantly lower FA in the posterior cingulate cortex (PCC) compared to neurotypical controls, with no significant differences observed for Subtype 2 in this region. Conversely, Subtype 2 exhibited reduced FA in the anterior cingulate cortex, middle temporal gyrus, parahippocampus, and thalamus relative to neurotypical controls, whereas Subtype 1 showed no significant alterations in these areas. Additionally, Subtype 2 had markedly higher mean diffusivity in the middle temporal gyrus, parahippocampus and thalamus than the control group, a pattern not seen in Subtype 1. The full-scale intelligence quotient (FIQ) and performance IQ (PIQ) scores were also lower for Subtype 2 compared to Subtype 1. Moreover, diagnostic prediction accuracy was enhanced when distinguishing between these subtypes compared to the general ASD classification. Our study identified two distinct neurosubtypes of ASD, shedding light on the biological underpinnings of the disorder’s heterogeneity. The unique biomarkers associated with each subgroup reveal potential neurological signatures specific to individuals with autism, which could facilitate tailored therapeutic strategies and early interventions. This differentiation enhances the understanding of ASD and underscores the importance of personalized approaches in managing the spectrum of autism disorders.

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40. Rea CJ, Lesch K, Hernandez B, Sprecher E, Hauptman M, Epee-Bounya A, Wilson K, Shah SN. Child and Family Characteristics Associated With Age of Autism Spectrum Disorder Diagnosis in a Primary Care Population. J Dev Behav Pediatr;2025 (Jul 28)

OBJECTIVE: To compare a sample of pediatric primary care patients diagnosed with autism spectrum disorder (ASD) with the general clinic population, as well as associations of child and caregiver characteristics with age of diagnosis. METHOD: Cross-sectional data for patients from 2 large, urban primary care practices diagnosed with ASD between March 1, 2018, and February 28, 2022, were collected from the medical record through extraction and chart review. The sample was compared with the total primary care population using χ2 analysis. Unadjusted bivariate linear regression and multivariate linear regression were used to evaluate associations of each variable with age of diagnosis. RESULTS: Patients diagnosed with ASD were more likely to be male, Hispanic, publicly insured and medically complex than the general clinic population. There was also a higher maternal education level in the autism group. In unadjusted linear regression analyses, language delay, connection with Early Intervention (EI), earlier age of parental concern, earlier age of referral, having an M-CHAT completed, higher M-CHAT scores, and having a first-degree relative with ASD were associated with earlier age of diagnosis. In multivariate linear regression analysis, connection with EI, better continuity of care, higher M-CHAT scores and having commercial insurance were associated with earlier diagnosis. Race/ethnicity, language, and Social Vulnerability Index ≥ 90%ile were not significantly associated with age of ASD diagnosis. CONCLUSION: This study reflects shifting prevalence patterns of ASD, but a persistent disparity in age of diagnosis among publicly insured children. It highlights the importance of developmental monitoring, continuity of care, and navigation support to help families obtain ASD diagnoses promptly.

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41. Rodríguez-Jiménez T, Navarro-Soria I, Martínez-González AE. Cross-Cultural Differences in Gastrointestinal Symptoms and Sensory Responses in Individuals with Autism: A Comparison Between Spain and Colombia. Children (Basel);2025 (Jul 6);12(7)

BACKGROUND: Between 40 and 70% of the population with autism have been found to suffer from functional gastrointestinal disorders (FGIDs). The emergence of FGIDs is related to lower quality of life and greater medical resources, somatization and emotional instability. There is a paucity of research available that examines gastrointestinal symptoms and sensory responses in individuals with autism in different countries and cultures. The aim of the present study is to compare the possible differences between gastrointestinal symptoms and sensory reactivity between two samples of individuals with autism from Spain and Colombia. METHODS: Differences in gastrointestinal symptoms and sensory response were analysed between individuals with autism from Spain (n = 65; mean age = 8.91, SD = 4.02) and Colombia (n = 62; mean age = 10.16, SD = 5.31). RESULTS: No differences were found as a function of age, sex and autism severity between Spanish and Colombian participants. More severe functional nausea and vomiting was reported by the Colombian sample when compared with the Spanish sample (p < 0.00, d = 0.42). Similarly, greater sensory reactivity emerged in Colombian individuals with autism relative to Spanish individuals with autism. CONCLUSIONS: Due to methodological limitations, sample size and other factors that could not be analysed in this research, it is not possible to draw conclusions about the influences of cultural or biological factors on gastrointestinal symptomatology and sensory reactivity among both autistic populations. This work could encourage more rigorous cross-cultural research in the future.

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42. Rostollan MA, Pulliam EH, Scott AL. Caregiver’s Perspectives on Disclosing the Diagnosis of Autism Spectrum Disorder to Their Children. J Dev Behav Pediatr;2025 (Jul 28)

OBJECTIVE: There is growing literature emphasizing the importance of early and tailored parental disclosure of an autism diagnosis to their children. While there are barriers to disclosure, most parents agree that children have a right to know of their diagnosis, with early disclosure being associated with a better quality of life and self-image. Within the literature, however, there is scarcity of populations from the United States represented in qualitative disclosure studies. With the impact of culture and location on language, this study aims to address this gap. METHOD: Caregivers of children with prior diagnosis of ASD (n = 16) were recruited to participate in semistructured interviews. Blinded transcripts of interviews were used to individually create codes that were formed into themes based on consensus of the researchers through thematic analysis. RESULTS: Of the 16 caregivers interviewed, 14 were White and all 16 were female. Twelve caregivers reported working or volunteering in areas with high exposure to the autism community. Thematic analysis yielded 4 themes relating to diagnosis disclosure: (1) Language of Disclosure, (2) Disclosure as a Journey, (3) Purpose of Disclosure, and (4) Process of Disclosure. CONCLUSION: This exploratory, qualitative study examines caregiver’s perspectives on the disclosure process, strengthening the consensus with emerging literature surrounding the process of disclosure and highlighting the role language plays in the disclosure process. More specifically, the metaphors used by parents to describe autism change from generally positive euphemisms to more well-balanced and realistic metaphors that encapsulate both triumphs and struggles that accompany an autism diagnosis.

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43. Salmerón Medina M, Blázquez A, Cercos A, Calvo R. Application of White Noise in Minors with Autism Spectrum Disorder. Behav Sci (Basel);2025 (Jul 21);15(7)

Individuals with Autism Spectrum Disorder (ASD) often experience sensory hyperreactivities that interfere with daily life activities. White noise, characterized by its uniformity and its ability to mask environmental sounds, may serve as a tool to improve sensory and emotional regulation in children with ASD. The primary objective was to evaluate the response to white noise in improving self-regulation in minors with ASD. As a secondary objective, the study assessed whether there were differences in the response to white noise between patients with ASD and those with ASD and Intellectual Disability (ID). This study was conducted in the Child and Adolescent Psychiatry and Psychology Department of Hospital Clínic of Barcelona. A total of 54 patients, aged between 7 and 17 years, were included. The patients were divided into two groups: Group 1 consisted of patients diagnosed with ASD (n = 21), and Group 2 included patients diagnosed with ASD and ID (n = 33). White noise was offered to the patients, and their response was evaluated before and after the exposure using the Conners Teacher Rating Scale. Overall, the response to white noise in the sample was positive, with a significant difference in scores on the Conners Teacher Rating Scale (p < 0.001). When dividing the sample into the ASD group and the ASD + ID group, it was observed that the ASD + ID group tolerated white noise better and had a longer exposure time, although both groups showed improved scores on the Conners Teacher Rating Scale. White noise may be a valuable tool to enhance well-being in individuals with ASD, reduce motor restlessness, and increase attention span and emotional stability. However, its effectiveness varies across individuals. It is recommended to tailor its use to individual needs and to extend future research by incorporating physiological measures and larger sample sizes.

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44. Sánchez B, Jordán de Urríes FB, Verdugo M, Abena CJ, Sanblás V. Strategies to Prevent Work Ability Decline and Support Retirement Transition in Workers with Intellectual and Developmental Disabilities. Healthcare (Basel);2025 (Jul 21);13(14)

Background/Objectives: The aging of workers with intellectual and developmental disabilities is an emerging reality attributed to the rise in life expectancy and improved labor market access. In this study, « workers » is used as an inclusive, neutral term covering all individuals engaged in paid labor-whether employees, self-employed, freelancers, or those performing manual or non-manual tasks. It encompasses every form of work. It is crucial to comprehend the reality of aging workers from the perspectives of the primary individuals involved: the workers, their families, and supporting professionals. Methods: A qualitative study was developed, involving 12 focus groups and 107 participants, using NVivo 12 Pro for analysis; we used a phenomenological methodology and grounded theory. Results: A set of concrete needs was highlighted: among them, 33 were related to declining work ability due to aging and disability (WADAD), and 30 to transition to retirement. These needs were grouped into categories: workplace accommodations, coordination and collaboration, personal and family support, counseling and training, and other types of needs. Conclusions: This study establishes an empirical basis tailored to the needs of this group, enabling the development of prevention and intervention protocols that address WADAD and the transition to retirement.

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45. Serpe C, De Sanctis P, Marini M, Canaider S, Abruzzo PM, Zucchini C. Human Blood-Derived lncRNAs in Autism Spectrum Disorder. Biomolecules;2025 (Jun 27);15(7)

Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder with a significant impact on public health. ASD diagnosis is based on clinical observation and typically occurs around three years of age. The identification of reliable ASD markers could facilitate early diagnosis and help pinpoint therapeutic targets for effective interventions. Long non-coding RNAs (lncRNAs), particularly those derived from blood, have been recently proposed as potential biomarkers in many pathological conditions, including neurological diseases. This manuscript summarizes original studies examining human dysregulated blood-derived lncRNAs as potential ASD biomarkers. LncRNAs are described by grouping them according to the selection strategy used by the authors: (i) lncRNAs involved in biological processes impaired in ASD or in pathological conditions sharing the disrupted signaling pathways of ASD; and (ii) lncRNAs identified through high-throughput analysis. The study highlights key priorities for future research: assessing the ability of lncRNAs to distinguish ASD from other neurological disorders, extending analyses to larger and younger cohorts to validate candidate biomarkers in early life, and integrating multiple data sources to establish validated biomarker networks for clinical application. This review indicates that research on blood-derived lncRNAs in ASD is still in its early stages.

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46. Shi L, Ma L, Zhao J, Kuang Z, Wang S, Yang H, Wang H, Han Q, Sun L. TFSNet: A Time-Frequency Synergy Network Based on EEG Signals for Autism Spectrum Disorder Classification. Brain Sci;2025 (Jun 25);15(7)

Autism Spectrum Disorder (ASD) seriously affects social, communication, and behavioral functions, and early accurate diagnosis is crucial to improve the prognosis of patients. Traditional diagnosis methods rely on professional doctors to make subjective diagnosis through scales, the feature extraction of existing machine learning methods is inefficient, and existing deep learning methods have limitations in capturing time-varying features and the joint expression of time-frequency features. To this end, this study proposes a time-frequency synergy network (TFSNet) to improve the accuracy of ASD EEG signal classification. The proposed Dynamic Residual Block (TDRB) was used to enhance time-domain feature extraction; Short-Time Fourier Transform (STFT), convolutional attention mechanism, and transformation technology were combined to capture frequency-domain information; and an adaptive cross-domain attention mechanism (ACDA) was designed to realize efficient fusion of time-frequency features. The experimental results show that the average accuracy of TFSNet on the University of Sheffield (containing 28 ASD patients and 28 healthy controls) and KAU dataset (containing 12 ASD patients and five healthy controls) reaches 98.68%and 97.14%, respectively, yielding significantly better results than the existing machine learning and deep learning methods. In addition, the analysis of model decisions through interpretability analysis techniques enhances its transparency and reliability.

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47. Shi Z, Jin Y, Xu H, Gao L, Wu M, Chang Y, Song X, Guo X. Altered neurotransmitters in cerebrospinal fluid of children with autism spectrum disorder. Brain Res;2025 (Jul 26):149851.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors. Neurotransmitter imbalances have been implicated in ASD, but few studies have examined cerebrospinal fluid (CSF) alterations in ASD patients. Identifying specific CSF biomarkers could enhance our understanding of the underlying neurobiology and improve diagnostic and therapeutic approaches. METHODS: CSF samples were collected from 17 children, including 8 with ASD and 9 typically developing controls. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to analyze neurotransmitter levels and metabolites in the CSF samples. Statistical comparisons were performed to identify group differences in neurotransmitter concentrations. RESULTS: ASD participants had significantly lower levels of glutamine, norepinephrine, and kynurenine compared to controls. Neurotransmitter dysregulation, particularly in the glutamine-glutamate cycle, was observed in ASD, potentially contributing to core symptoms. CONCLUSION: Our findings suggest that neurotransmitter imbalances in the CSF could serve as potential biomarkers for ASD. Further research is needed to validate these findings and explore therapeutic interventions targeting these neurotransmitter pathways.

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48. Stachura K, Emich-Widera E, Kazek B, Stania M. Coordination, Balance and Fine Motor Skills Deficities in Children with Autism Spectrum Disorder Without Co-Occuring Conditions-Application of MABC-2 Test in Pilot Study Among Polish Children. J Clin Med;2025 (Jul 12);14(14)

Objectives: The primary objective of this study was to determine whether motor disorders are significantly more prevalent in children with Autism Spectrum Disorder (ASD) without co-occurring genetic or neurological conditions compared to neurotypical children. Another aim was to explore the applicability of the MABC-2 test for assessing motor skills in a Polish cohort of children with ASD. Additionally, this study sought to develop a basic framework for motor skill assessment in children with autism. Methods: This study included 166 Caucasian children, both sexes, aged 5-12 years, without intellectual disability (IQ ≥ 70), without concomitant genetic or neurological disorders, particularly epilepsy or cerebral palsy. The study group consisted of children with ASD (n = 71), and the control group consisted of neurotypical children (n = 95). The participants were assessed with the Movement Assessment Battery for Children-second edition (MABC-2), MABC-2 checklist and the Developmental Coordination Disorder Questionnaire (DCDQ), used as a reference point. Results: The children with ASD obtained significantly lower MABC-2 test results in all subtests in comparison with the control group. The children with suspected or diagnosed coordination disorders were characterized by a significantly greater number of co-occurring non-motor factors than the other participants of this study. MABC-2 test showed greater consistency with DCDQ than with the MABC-2 questionnaire. Conclusions: Children with ASD present a lower level of manual dexterity and balance and greater difficulties in performing tasks, including throwing and catching, in comparison with neurotypical children. The MABC-2 test with the MABC-2 checklist and DCDQ questionnaire constitute a complementary diagnostic tool.

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49. Su WC, Tsuzuki D, Srinivasan S, Bhat A. Neural Effects of Creative Movement, General Movement, and Sedentary Play Interventions on Interpersonal Synchrony in Children with Autism Spectrum Disorder: A Preliminary fNIRS Study. Brain Sci;2025 (Jun 25);15(7)

BACKGROUND/OBJECTIVES: Children with Autism Spectrum Disorder (ASD) experience difficulties with interpersonal synchrony (IPS). While creative movement (CM) interventions have shown benefits for social, cognitive, and motor skills in children with ASD, the neural mechanisms underlying these improvements remain unclear. This pilot randomized control trial examined the behavioral and neural effects of CM, general movement (GM), and sedentary play (SP) interventions. METHODS: Twenty-two children with ASD (Mean Age ± SE = 8.7 ± 1.9) participated. Functional Near-Infrared Spectroscopy (fNIRS) was used to measure cortical activation during a drumming synchrony task before and after 8 weeks of intervention. RESULTS: The CM group demonstrated significant improvements in IPS and the most widespread increases in socially enhanced activation across the left middle frontal gyrus (MFG), inferior frontal gyrus (IFG), and superior temporal sulcus (STS). The GM group showed increased activation in the left IFG, while the SP group showed enhanced activation in the left STS. Children with lower baseline adaptive functioning and social responsiveness showed greater IPS improvement. CONCLUSIONS: These findings provide preliminary evidence for the efficacy of CM in improving IPS in children with ASD and support the use of fNIRS to capture neural effects following interventions.

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50. Suprunowicz M, Zwierz M, Konarzewska B, Waszkiewicz N. Autistic Traits in Schizophrenia: Immune Mechanisms and Inflammatory Biomarkers. Int J Mol Sci;2025 (Jul 10);26(14)

Autistic traits-such as social communication deficits, cognitive rigidity, and repetitive behaviors-are increasingly recognized in individuals with schizophrenia, particularly in early-onset cases and subtypes with predominant negative symptoms. This overlap has prompted investigations into shared pathophysiological mechanisms. One emerging area of focus is the role of neuroinflammation in schizophrenia, which may contribute to the manifestation of autistic features. Immunological research indicates the presence of chronic low-grade inflammation, microglial activation, and disruption of the blood-brain barrier in schizophrenia. In particular, an imbalance in T-helper (Th) cell responses-specifically a shift toward Th2 dominance or concurrent Th1/Th2 activation-may lead to dysregulated cytokine production and disturbances in neural function. These findings highlight the importance of exploring immunological pathways as a basis for specific symptom profiles. Additionally, current efforts aim to identify reliable inflammatory biomarkers in schizophrenia that could support diagnosis, predict disease course, and guide treatment. Evaluating neuroinflammatory markers in patients with autistic features may provide novel insight into schizophrenia subtypes and help tailor immunomodulatory therapies. This review explores the expression of autistic traits in schizophrenia and examines the role of neuroinflammation and Th1/Th2 imbalance as potential mechanisms and biomarkers.

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51. Tagkouli E, Kouklari EC, Tonge BJ, Ntre V, Pehlivanidis A, Stefanis NC, Pantelis C, Papanikolaou K. Schizotypal Traits in Children with Autism Spectrum Disorder and the Impact on Social, Emotional and Behavioral Functioning. Brain Sci;2025 (Jun 20);15(7)

Background: Schizotypal traits are considered to be clinical and cognitive features of Schizotypal Disorder in children (SDc). These traits are also seen in children and adolescents with high-functioning Autism Spectrum Disorder (ASD). This study examines the influence of schizotypal traits (and their severity) on the capacity of children with ASD to manage emotions, develop relationships with others, and adapt in school and family life. Methods: The Schizotypal traits of 63 children (6-12 years old) with High Functioning ASD were measured by the Melbourne Assessment of Schizotypy in Kids (MASK). Parents and teachers of the participating children completed the Child Behavior Checklist (CBCL) and Teachers’ Report Form (TRF) from the Achenbach System of Empirically Based Assessment and the Aberrant Behavior Checklist (ABC). Results: Overall, the results indicated correlations between the MASK scores and problems recorded by teachers, such as Internalizing problems (i.e., Anxious/Depressed, Withdrawn/Depressed, and Other problems score) according to TRF and Inappropriate speech scores, according to teacher’s ABC scales. Schizotypal traits impact the social, emotional, and behavioral functioning of children with ASD at home and school environments. Conclusions: The assessment of schizotypal traits in children with ASD provides critical information about a child’s functionality and cognitive development, also leading to the identification of potential cognitive-neuropsychological endophenotypes within ASD with characteristics of both Autism and Schizophrenia spectra. Τhe development of a valid assessment tool is required, as well as the design of targeted interventions to prevent the loss of functionality.

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52. Tewelde EG, Morvai B, Zachar G, Pogány Á. Prenatal Valproic Acid Exposure Affects Song Learning in Zebra Finches: A Potential Model for Vocal Development in Autism. Life (Basel);2025 (Jul 1);15(7)

Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions characterized by impairments in social abilities and communication. Studying appropriate animal models can enhance our understanding of the neural mechanisms underlying these conditions, potentially leading to improved treatment and intervention strategies. Modeling impairments in linguistic development and vocal communication caused by autism had been a challenging goal for a long time. Prenatal valproic acid (VPA) treatment has been successfully used to induce ASD-like behavioral symptoms in several vertebrate species including birds. Applying VPA-treatment on songbirds, therefore, offers a promising research paradigm to model ASD. In this study, we investigated the effect of embryonic VPA treatment on song learning in the highly social zebra finch (Taeniopygia guttata). Fertilized eggs were injected with either 0.45 µmol VPA or a saline solution on day 9 of incubation, and hatchlings were allowed to stay with their parents until day 35 post-hatching to facilitate song learning from the father. Once male offsprings reached adulthood, their songs were recorded and compared to those of their fathers. VPA-exposed males exhibited significantly greater similarity to their fathers’ songs compared to control males (74% vs. 31%, respectively), suggesting a reduced ability to modify and develop their own vocal patterns as subadults. Additionally, they showed higher entropy in their songs compared to controls (-1.4 vs. -1.7), indicating more disorganized vocalizations. These findings suggest that prenatal VPA exposure disrupts typical song learning and vocal development in zebra finches, likely by affecting neural mechanisms involved in vocal learning and crystallization of the songs. Our study suggests VPA treatment in songbirds provides a useful tool to model and investigate linguistic developmental disorders related to ASD in humans.

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53. Trottier-Dumont W, Bussières EL, Deneault AA, Madigan S, Cyr C. Attachment in autistic children as measured with the strange situation procedure: a systematic review and a meta-analysis. Attach Hum Dev;2025 (Jul 28):1-23.

Since the inception of attachment theory, parent-child relationships has been examined in different populations, including autistic children. Attachment in autistic children has been measured using inconsistent separation-reunion procedures, making it difficult to examine whether autistic children are more or less likely to develop a secure attachment compared to non-autistic children. This study aims to meta-analyze data from studies that have assessed attachment in autistic children using a standardized version of the Strange Situation Procedure. Using the CASCADE catalogue, we identified six studies (n = 202). Results revealed that 45.6% were classified as secure, 18.7% as avoidant, 8.5% as resistant, and 27.2% as disorganized, which was statistically similar to the proportions of attachment categories in general population. Moderator analyses revealed a higher proportion of secure attachment among older children and more recently published studies. Future research should focus on unifying methodological approaches to studying attachment in autistic children.

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54. Voniati L, Papadopoulos A, Ziavra N, Tafiadis D. Communication Abilities, Assessment Procedures, and Intervention Approaches in Rett Syndrome: A Narrative Review. Brain Sci;2025 (Jul 15);15(7)

Background/Objectives: Rett syndrome (RTT) is a rare neurodevelopmental disorder that affects movement and communication skills primarily in females. This study aimed to synthesize the research from the last two decades regarding the verbal and nonverbal communication abilities, assessment procedures, and intervention approaches for individuals with RTT. Methods: A structured literature search was conducted using the Embase, Scopus, and PubMed databases. Fifty-seven studies were selected and analyzed based on inclusion criteria. The data were categorized into four domains (verbal communication skills, nonverbal communication skills, assessment procedures, and intervention approaches). Results: The findings indicated a wide variety of communicative behaviors across the RTT population, including prelinguistic signals, regression in verbal output, and preserved nonverbal communicative intent. Moreover, the results highlighted the importance of tailored assessments (Inventory of Potential Communicative Acts, eye tracking tools, and Augmentative and Alternative Communication) to facilitate functional communication. The individualized intervention approaches were found to be the most effective in improving communicative participation. Conclusions: The current review provides an overview of the current evidence with an emphasis on the need for personalized and evidence-based clinical practices. Additionally, it provided guidance for professionals, clinicians, and researchers seeking to improve the quality of life for individuals with RTT.

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55. Woo T, Ahmed NI, Appenteng MK, King C, Li R, Fritsche KL, Sun GY, Cui J, Will MJ, Maurer SV, Stevens HE, Beversdorf DQ, Greenlief CM. Effect of Maternal Dietary DHA and Prenatal Stress Mouse Model on Autistic-like Behaviors, Lipid Peroxidation Activity, and GABA Expression in Offspring Pups. Int J Mol Sci;2025 (Jul 14);26(14)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restricted social communication and repetitive behaviors. Prenatal stress is critical in neurodevelopment and increases risk for ASD, particularly in those with greater genetic susceptibility to stress. Docosahexaenoic acid (DHA) is one of the most abundant ω-3 fatty acids in the membrane phospholipids of the mammalian brain, and dietary DHA plays an important role in brain development and maintenance of brain structure. In this study, we investigated whether peri-natal supplementation of DHA can alleviate autistic-like behaviors in a genetic risk/stress mouse model and how it alters lipid peroxidation activity and GABAergic system gene expression in the forebrain. Pregnant heterozygous serotonin transporter knockout (SERT-KO) and wild-type (WT) dams were placed in either non-stressed control conditions or chronic variable stress (CVS) conditions and fed either a control diet or a DHA-rich (1% by weight) diet. Offspring of each group were assessed for anxiety and autism-associated behavior at post-natal day 60 using an open field test, elevated plus maze test, repetitive behavior, and the 3-chamber social approach test. A liquid chromatography-mass spectrometry (LC-MS)-based method was used to follow changes in levels of lipid peroxidation products in the cerebral cortex. Male offspring of prenatally stressed SERT-het KO dams exhibited decreased social preference behaviors and increased repetitive grooming behaviors compared to WT control offspring. Moreover, DHA supplementation in male SERT-het mice decreased frequency of grooming behaviors albeit showing no associated effects on social behaviors. Regardless of stress conditions, supplementation of DHA to the WT mice did not result in alterations in grooming nor social interaction in the offspring. Furthermore, no apparent changes were observed in the lipid peroxidation products comparing the stressed and non-stressed brains. Gad2 was downregulated in the cortex of female offspring of prenatally stressed SERT-KO dams, and this change appeared to be rescued by DHA supplementation in offspring. Gad2 was upregulated in the striatum of male offspring of prenatally stressed SERT-KO dams, but DHA did not significantly alter the expression compared to the control diet condition.

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56. Zambri NM, Koh HC, Daniel LM, Wong CM. Identifying the Best Discriminating Items for Three Autism Screening Methods in a High-Likelihood Sibling Population. J Autism Dev Disord;2025 (Jul 26)

The questions used in caregiver-completed autism screening tools vary in how well they differentiate between children with autism and those without, depending on the age group screened, the target population, and language or cultural contexts. This study examined the best discriminating items for the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F), Social Attention and Communication Surveillance, Revised (SACS-R), and ASDetect in a high-likelihood younger sibling population in a multicultural setting. Alternative scoring methods to improve the utility of these screening tools were also examined. Item response data were extracted from a published study on 141 siblings who underwent autism screening at 12, 18 and 30 months old, followed by a diagnostic assessment at 36 to 48 months old. 32 (22.7%) were diagnosed with autism. The best discriminating items from the M-CHAT-R/F were ‘follows a point’, ‘pretend play’, ‘protoimperative pointing’, ‘protodeclarative pointing’, ‘shows objects’, ‘responds to name’, ‘follows gaze’ and ‘understands instructions’. An alternative scoring method (‘Sing-CHAT’) was established using these items and performed better than the full M-CHAT-R/F when using failing ≥1 item as a cutoff. In contrast, almost all items on the SACS-R and ASDetect were found to be significantly discriminating at 18 and 30 months old. For these, however, using all items instead of just key items, and using a lower cut-off threshold, resulted in improvements in psychometric properties. Best discriminating items in screening tools vary by age, population and culture, and alternative scoring methods could potentially improve autism detection.

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57. Zhou M, Hung K, Wong MC, Chau TK, Lam BW, Chu CY, Gu J, Dai J, Chow DH. Effects of Rope Therapy on Social Attention and Temperament Traits in Autistic Children. Children (Basel);2025 (Jul 3);12(7)

BACKGROUND: Autistic children experience social communication challenges that are often linked to reduced social motivation and attention. However, there is currently no effective intervention to improve social attention in autistic children. OBJECTIVE: This study compared the effects of rope therapy (RT), a novel intervention, with traditional sensory integration therapy (SIT) on social attention and temperament traits in autistic children. METHODS: A two-arm randomized controlled trial was conducted in which participants were randomly assigned to RT (n = 14) and SIT (n = 12) groups. Social attention was assessed using eye-tracking parameters, and temperament trait changes were measured using the Taylor-Johnson Temperament Analysis (T-JTA) scale. RESULTS: Both groups showed significant improvements in social attention over time (p < 0.05). Although the RT group demonstrated numerically greater improvements in social attention compared to the transitional SIT group, most of the between-group differences were not statistically significant. Additionally, the RT group showed significant reductions in anxiety and emotional repression temperament traits (p < 0.05). CONCLUSIONS: RT exhibits promise as an effective intervention for improving social attention and temperament trait patterns in autistic children. Further research is required to confirm the findings of this study and explore the long-term effects of RT.

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58. Zhou X, Xu X, Li L, Jin Y, Wang Q, Wang X, Jin M, Ni H. The Effect of Anti-Inflammatory Dimethylmalonic Acid on the Neurobehavioral Phenotype of a Neonatal ASD Model Induced by Antiepileptic Valproic Acid. Biomedicines;2025 (Jul 18);13(7)

Background: Valproic acid (VPA) is a medication used to treat epilepsy, bipolar disorder, and migraine. If taken during pregnancy, it can cause neural tube defects (NTDs) and leads to offspring ASD behavioral phenotype. It has recently been found that early postnatal VPA exposure can also induce the ASD phenotype, but the details of model production and intervention still need further investigation. Dimethylmalonic acid (DMM), a competitive inhibitor of succinate dehydrogenase, blocks the key element succinate of OXPHOS, decreasing the secretion of anti-inflammatory cytokines and ROS production. However, it is still unclear whether DMM is involved in the repair of developmental brain injuries. Objectives: The aim of this study was to evaluate the intervention effect and optimal dosage of DMM on behavioral phenotypes using a neonatal mouse VPA autism model. Methods: This experiment consists of two parts. The first part observed the effects of different concentrations of VPA on the development and neurobehavioral phenotype of mice. The second part determined the intervention effect of DMM on a developmental VPA autism model and determined the optimal therapeutic dose. Results: We found that the 40 mg/mL concentration had a greater impact on the neural reflex damage in mice. Moreover, DMM treatment can partially improve the neurobehavioral damage in the VPA model, and 20 mg/kg has the best intervention effect. Conclusions: This study provides valuable model construction data for further exploring the mechanism of DMM treatment for an ASD phenotype induced by VPA exposure in neonates.

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