1. Al Mogren M, Teniou A, Rhouati A, Thakur A, Alanazi S, Anasori B, Zourob M. Integration of Ti(3)C(2)T(x) MXene in the selection of DNA aptamers for FMRP for the diagnosis of fragile X syndrome. Int J Biol Macromol;2025 (Jul 12):145968.

Being the second cause of intellectual disability after Down syndrome, Fragile X Syndrome (FXS) is a X-linked heritable disease. It is caused by a mutation in FMR1 gene consisting of an expansion of CGG repeats causing the absence or reduced expression of Fragile mental retardation protein (FMRP). FXS diagnosis is thus based on molecular techniques studying the FMR1 gene alterations. However, studying the protein is crucial for a better understanding of the FMRP role in brain development and function. This work aims to select a ssDNA aptamer for the detection and quantification of FMRP in blood. SELEX (Systematic Evolution of Ligands by EXponential enrichment) process, with a total of eight rounds of selection, was used to generate three ssDNA sequences able to bind FMRP. Affinity studies were performed by exploring the ability of ssDNA to adsorb to the titanium carbide (Ti(3)C(2)T(x)) MXene. Dissociation constants were determined based on the capacity of MXene to quench the fluorophore labeling of the aptamers. The aptamer sequence FM1, with the best affinity K(d) = 25.35 nM, was employed for the design of a fluorescent assay, where Ti(3)C(2)T(x) MXene acts as an energy acceptor. Under the optimal conditions, the proposed strategy enabled the FMRP determination within the range of 0.01 to 1000 ng/mL and the low detection limit of 0.038 pg/mL. MXene-based aptamer selection could be an excellent alternative in SELEX to techniques used in traditional SELEX.

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2. Baroncini A, Boissiere L, Larrieu D, Haddad S, Pellisé F, Alanay A, Kleinstueck F, Pizones J, Bourghli A, Obeid I. Comparison of Patients With and Without Predicted Surgical Indication Between Clusters of Adult Spine Deformity (ASD) Patients. Spine (Phila Pa 1976);2025 (Jul 15);50(14):975-980.

STUDY DESIGN: Multicentric, retrospective analysis of prospectively collected data. OBJECTIVE: To utilize machine learning (ML) for clustering and management prediction (conservative vs . operative) in surgically treated adult spine deformity (ASD) patients, and to compare the attainment of the minimum clinically important difference (MCID) between predicted surgical and conservative patients. SUMMARY OF BACKGROUND DATA: Management choice in ASD is complex. ML can identify patient clusters and predict treatment, but it is unclear whether patients treated according to the prediction also show better clinical outcomes. MATERIALS AND METHODS: ASD patients (2-yr follow-up) were divided into groups using k-means clustering. Management choice was predicted among operated patients in each cluster. The MCID for the Oswestry Disability Index (ODI) and the Scoliosis Research Society-22 (SRS-22) were calculated and compared between patients with and without surgical prediction. RESULTS: In cluster 1 (idiopathic scoliosis, n=675, 150 surgeries), 57% of patients had a conservative prediction. Of these, 52% and 49% achieved MCID for ODI and SRS-22, respectively, compared with 68% and 75% for those with surgical predictions [odds ratio (OR)=2 and 3.1, respectively].In cluster 2 (moderate sagittal imbalance, n=561, 200 surgeries), 12% had a conservative prediction. Of these, 29% and 46% achieved MCID for ODI and SRS-22, respectively, compared with 47% and 56% for those with surgical predictions.In cluster 3 (significant sagittal imbalance, n=537, 197 surgeries), 17% had a conservative prediction. Of these, 12% and 15% achieved MCID for ODI and SRS-22, respectively, compared with 37% and 45% for those with surgical predictions (OR=4.2 and 4.5, respectively). CONCLUSION: Patients with concordant surgical prediction and management had higher odds of achieving the MCID, indicating a good correlation between prediction and clinical outcomes. In cluster 3, the low percentage of patients with conservative prediction achieving the MCID suggests that ML could well identify patients with poor clinical outcomes.

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3. Byrne K, Lisiecka D, Moran G, Daly B, Fleischmann I, McCallion P, McCarron M, Phadraig CMG. Oral Health and Pneumonia in Adults With Intellectual and Developmental Disabilities: A Scoping Review. J Intellect Disabil Res;2025 (Jul 15)

INTRODUCTION: Pneumonia is a leading cause of death for people with intellectual and developmental disabilities (IDD), who also have increased risk of oral disease. Given the known relationship between oral disease and pneumonia in similar populations, this review aims to explore what is known about the association between oral health and pneumonia among people with IDD. METHODS: This systematic scoping review was carried out in accordance with the Joanna Briggs Institute methods and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist (PRISMA-ScR). A systematic search of Medline (Ovid), Embase, Cochrane Trials, Cochrane Review, CINAHL and PubMed was conducted, guided by a registered protocol. The PCC framework informed the search and inclusion criteria. Titles and abstracts were independently screened by two reviewers, with full texts assessed for relevance to oral health and pneumonia in adults with IDD. RESULTS: Following a protocol and defined criteria, (2544) articles were abstract screened; a further (31) reached full-text review, with (7) included in this review. Study designs included cross-sectional studies (2), retrospective cohorts (2), prospective cohorts (2) and one RCT pilot (1). Six studies reported oral carriage of respiratory pathogens such as Streptococcus pneumoniae, Pseudomonas aeruginosa and Klebsiella pneumoniae. Two studies reported predictive relationships between oral pathogens and pneumonia, with increased odds of respiratory illness associated with positive PCR results for specific pathogens (OR 9.0, 95% confidence interval [CI] 2.3-38.8). Two studies identified poor oral health as a predictor of pneumonia, using validated tools such as the ROAG (OR 1.6, 95% CI 1.1-2.5). Mediating factors included enteral feeding, level of IDD, and history of oral disease. CONCLUSIONS: Research consistently finds carriage of potential respiratory pathogens in the oral microbiome of people with IDD. Despite this, there is a significant lack of research into the relationship between the oral microbiome, poor oral health, and pneumonia in this population, though the latter two are both prevalent and consequential. There is an urgent need for further research exploring the role that oral health and the oral microbiome play in pneumonia among people with IDD.

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4. Gao X, Xu Y. Vision transformer and complex network analysis for autism spectrum disorder classification in T1 structural MRI. Jpn J Radiol;2025 (Jul 15)

BACKGROUND: Autism spectrum disorder (ASD) affects social interaction, communication, and behavior. Early diagnosis is important as it enables timely intervention that can significantly improve long-term outcomes, but current diagnostic, which rely heavily on behavioral observations and clinical interviews, are often subjective and time-consuming. This study introduces an AI-based approach that uses T1-weighted structural MRI (sMRI) scans, network analysis, and vision transformers to automatically diagnose ASD. METHODS: sMRI data from 79 ASD patients and 105 healthy controls were obtained from the Autism Brain Imaging Data Exchange (ABIDE) database. Complex network analysis (CNA) features and ViT (Vision Transformer) features were developed for predicting ASD. Five models were developed for each type of features: logistic regression, support vector machine (SVM), gradient boosting (GB), K-nearest neighbors (KNN), and neural network (NN). 25 models were further developed by federating the two sets of 5 models. Model performance was evaluated using accuracy, area under the receiver operating characteristic curve (AUC-ROC), sensitivity, and specificity via fivefold cross-validation. RESULTS: The federate model CNA(KNN)-ViT(NN) achieved highest performance, with accuracy 0.951 ± 0.067, AUC-ROC 0.980 ± 0.020, sensitivity 0.963 ± 0.050, and specificity 0.943 ± 0.047. The performance of the ViT-based models exceeds that of the complex network-based models on 80% of the performance metrics. By federating CNA models, the ViT models can achieve better performance. CONCLUSION: This study demonstrates the feasibility of using CNA and ViT models for the automated diagnosis of ASD. The proposed CNA(KNN)-ViT(NN) model achieved better accuracy in ASD classification based solely on T1 sMRI images. The proposed method’s reliance on widely available T1 sMRI scans highlights its potential for integration into routine clinical examinations, facilitating more efficient and accessible ASD screening.

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5. Huang D, Zhao W, Sun H, Yang C, Jiang L. 5-mC DNA methylation in neurodevelopment: from molecular mechanisms to therapeutic implications. Mol Biol Rep;2025 (Jul 15);52(1):713.

5-mC DNA methylation is a fundamental epigenetic modification that plays a crucial role in neurodevelopment and neurological disorders. This review synthesizes the current understanding of 5-mC DNA methylation in neural system development and its implications in neurodevelopmental disorders. During normal neural development, 5-mC methylation precisely regulates neural stem cell differentiation and neuronal maturation through DNA methyltransferases (DNMTs) and methyl-CpG-binding domain (MBD) proteins. Disruption of these methylation patterns contributes to various neurodevelopmental disorders. In autism spectrum disorder (ASD), altered methylation patterns in specific genes like SHANK family and genome-wide methylation changes have been identified as potential diagnostic biomarkers. In fragile X syndrome, CGG trinucleotide repeat expansion increases methylation of the FMR1 gene promoter, leading to FMRP protein deficiency. Rett syndrome, primarily caused by MECP2 mutations, involves disrupted methylation-dependent transcriptional regulation. In epilepsy, DNA methylation abnormalities affect multiple epilepsy-related genes and may influence treatment responses to ketogenic diets. Despite these advances, the field faces significant challenges including tissue specificity issues, technical limitations in methylation detection, and therapeutic targeting difficulties. This review also discusses future perspectives, emphasizing the potential of DNA methylation as a therapeutic target and biomarker for neurodevelopmental disorders. Understanding these methylation mechanisms could lead to novel diagnostic tools and therapeutic strategies for various neurological conditions.

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6. Kaan H, Coskun M. Autism Spectrum Disorder in a Child with Megalencephaly-capillary Malformation-polymicrogyria Syndrome: A Case Report. Clin Psychopharmacol Neurosci;2025 (Aug 31);23(3):516-519.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction as well as repetitive behaviors and restricted interests. The genetic mechanism underlying ASD is as complex and heterogeneous as the clinical presentation of the disorder itself. Megalencephaly-capillary malformation syndrome (MCAP) is a rare genetic disorder that is associated with mutations in the ADGRV1 and PIK3CA genes. To the best of our knowledge, there is only one case report in the literature that documents the coexistence of MCAP and ASD. In this case study, we present the case of a 14-year-old girl diagnosed with both ASD and MCAP who was admitted to our clinic. Diagnosing ASD in patients with genetic syndromes can be challenging due to pre-existing cognitive and medical issues. This case underscores the importance of regular child psychiatry follow-ups for children with genetic syndromes to ensure timely and accurate diagnosis of ASD.

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7. Kırşan FZ, Doğan Ö, Yaylacı M, Öztop DB. Fractalkine and Neuroinflammation in Autism Spectrum Disorder: A Novel Perspective. Clin Psychopharmacol Neurosci;2025 (Aug 31);23(3):467-475.

OBJECTIVE: To investigate the role of neuroinflammation in the etiopathogenesis of autism spectrum disorder (ASD), we investigated the role of fractalkine and tumour necrosis factor alpha (TNF-α), which may be potential biomarkers for ASD. This study aimed to evaluate the serum levels of interleukin-1beta (IL-1β), interleukin-6 (IL-6), and high-sensitivity CRP (hs-CRP) and to investigate the relationship between fractalkine, TNF-α, IL-1β, IL-6, and hs-CRP and the severity of symptoms in ASD. METHODS: In this cross-sectional study, 44 children between the ages of 24-72 months diagnosed with ASD constituted the research group, and 44 healthy children of similar age and sex constituted the control group. Detailed mental status examinations were performed in both groups. Symptom severity of children diagnosed with ASD was evaluated using the Childhood Autism Rating Scale, Autism Behaviour Checklist and Repetitive Behaviours Scale-Revised Turkish Version. Peripheral venous blood samples were obtained from children in both groups and serum fractalkine, TNF-α, IL-1β, IL-6 and hs-CRP levels were measured by ELISA method. RESULTS: Serum fractalkine and IL-1β levels of children in the ASD group were significantly lower than those in the control group. No significant difference was found between the groups in serum TNF-α, IL-6 and hs-CRP levels. There was no correlation between ASD severity and fractalkine, TNF-α, IL-1β, and IL-6 levels. CONCLUSION: Our study is the first to evaluate serum fractalkine levels in ASD in early childhood. Our findings suggest that fractalkine may play a role in the etiopathogenesis of ASD in early life and may be a potential biomarker for ASD.

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8. Li D, Feng D, Hu C, Tian Y, Reiss AL, Hagerman RJ, Xu X, Qiao Z, Li R, Xu Q. Distinct and shared intrinsic resting-state functional networks in children with idiopathic autism spectrum disorder and fragile X syndrome. Mol Psychiatry;2025 (Jul 15)

Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are behaviorally overlapped. However, little is known about the functional patterns underlying the cognitive and behavioral characteristics of FXS and ASD. The present study aimed to identify the distinct or/and shared functional networks in young children with FXS and idiopathic ASD. We recruited 150 children consecutively in a group with FXS, a group with idiopathic ASD, and a group with typically developing (TD) children. Resting-state functional magnetic resonance imaging (fMRI) and behavioral data were collected and genetic information was obtained in the FXS group. We compared functional connectivity (FC) among the three groups and found that both FXS and ASD showed significantly decreased FC among the default mode network (DMN), sensorimotor network (SMN), cerebellum network (CN), and visual network (VN) relative to TD. FXS specifically demonstrated decreased FC within DMN, while both FXS and ASD exhibited significantly decreased FC within the CN and also between the CN and DMN, SMN, VN, respectively. Aberrant topological alterations of CN were identified in children with FXS and ASD, while ASD group showed significantly lower segregation in regions that integrate sensory and visual information, and motor coordination function. Moreover, correlations between the severity of social affect and mean FC of various cerebral-cerebellum networks in FXS exhibited significantly distinct trends from those observed in ASD. In the FXS group, the topological measure at crus I of the cerebellum is found to be negatively associated with DNA methylation levels. These results were statistically robust and demonstrated the shared and distinct profiles of intrinsic functional networks in FXS and ASD, two phenotypically overlapping developmental disorders.

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9. Man LLY, Lacroix A, Lai MC. Autistic patients. Cmaj;2025 (Jul 13);197(25):E722-e723.

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10. Mori Y, Suzuki Y, Miura I. Long-acting injectable paliperidone palmitate for severe anorexia nervosa and comorbid autism spectrum disorder: A case report. PCN Rep;2025 (Sep);4(3):e70161.

BACKGROUND: Anorexia nervosa (AN), comorbid with autism spectrum disorder (ASD), poses significant treatment challenges due to cognitive rigidity, poor insight, and frequent nonadherence to pharmacological interventions. Although second-generation antipsychotics (SGAs) have been used off-label in AN, evidence for long-acting injectable (LAI) formulations remains scarce, particularly in adult patients with neurodevelopmental disorders. CASE PRESENTATION: We report the case of a 27-year-old woman with severe AN and comorbid ASD who exhibited repeated hospitalizations due to critical underweight and persistent refusal of oral medications. Cognitive assessment revealed mild intellectual disability (IQ 56). The patient demonstrated obsessive-compulsive traits and extreme rigidity toward food intake, and was resistant to multiple oral antipsychotics. While risperidone was tolerated, poor adherence limited its efficacy. After obtaining informed consent, LAI paliperidone palmitate was initiated (initial dose 25 mg, increased to 50 mg monthly). Following a short period of psychoeducation and lifestyle intervention, the patient maintained psychiatric and nutritional stability over a 3-year outpatient follow-up without rehospitalization. Her body mass index stabilized at approximately 24 kg/m(2). No severe adverse effects were reported. CONCLUSION: This case highlights the potential role of LAI paliperidone palmitate in managing treatment-refractory AN with comorbid ASD and intellectual disability, particularly in patients with poor adherence and prominent obsessive traits. Although antipsychotics are not standard for AN, LAI formulations may offer pragmatic, sustainable benefits in selected cases. Further studies are warranted to assess long-term safety and efficacy in this population.

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11. Patel LR, O’Neill M, Anzueto G, Olsen D, Pawlowski K, Santoro JD, Sideridis G, Spinazzi N, Baumer NT. Neurobehavioural Patterns in the Diagnosis of Autism Spectrum Disorder in Down Syndrome. J Intellect Disabil Res;2025 (Jul 15)

BACKGROUND: Autism spectrum disorder (ASD) is common in Down syndrome (DS). There are no standardised screening/assessment tools for evaluating ASD in DS. METHODS: We utilised a novel validated questionnaire, the ND-PROM, to investigate differences in developmental skills and behaviours among children with DS only, ASD only and DS + ASD. RESULTS: Data analysis using ANOVA tests and post hoc t-tests revealed item-level differences between groups in domains specific to ASD (nonverbal communication, social-emotional understanding, social interaction, independent play, restrictive and repetitive behaviours and interests and sensory processes) and not specific to ASD (expressive language, receptive language, adaptive/toileting, challenging behaviours, mental health and impulse/ADHD). CONCLUSION: ASD-specific symptoms best distinguished DS only and DS + ASD groups, while non-ASD symptoms best distinguished ASD only and DS + ASD groups. Items that best differentiate groups are presented.

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12. Pitsik E, Kurkin S, Martynova O, Portnova G, Hramov AE. Hypergraph representation of multilayer brain network enhances autism spectrum disorder detection. Chaos;2025 (Jul 1);35(7)

We present a hypergraph-based framework for analyzing functional brain networks in children with autism spectrum disorder (ASD) using resting-state electroencephalography data. Moving beyond conventional multilayer network approaches, our method captures previously undetectable higher-order connectivity patterns through a two-stage analysis: (1) constructing multilayer networks via recurrence quantification analysis to model within- and cross-frequency interactions and (2) transforming these networks into hypergraphs to better represent complex neural relationships. Our results identify distinctive connectivity signatures in ASD, particularly in bilateral frontal regions, with hypergraph representations revealing patterns obscured in traditional analyses. Most significantly, hypergraph-derived features achieved 81% classification accuracy (F1-score) using support vector machines, outperforming 57% achieved with multilayer network features. These findings demonstrate how hypergraphs can provide more stable and informative biomarkers for ASD, offering both a powerful analytical framework for studying neurodevelopmental disorders and a promising pathway toward more objective diagnostic tools. The improvement in classification performance underscores the clinical potential of this approach.

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13. Scaccabarozzi G, Fumagalli L, Mambretti M, Giorda R, Villa M, Busti Ceccarelli S, Villa L, Mani E, Nobile M, Molteni M, Pozzoli U, Crippa A. Protein-Altering Variants’ Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology. Autism Res;2025 (Jul 15)

Understanding the functional implications of genes’ variants in autism heterogeneity is challenging. Gene set analysis examines the cumulative effect of multiple functionally converging genes. Here we explored whether a multi-step analysis could identify gene sets with different loads of protein-altering variants (PAVs) between two subgroups of autistic children. After subdividing our sample (n = 71, 3-12 years) based on higher (> 80; n = 43) and lower ( ⩽ 80; n = 28) intelligence quotient (IQ), a gene set variant enrichment analysis identified gene sets with significantly different incidence of PAVs between the two subgroups of autistic children. Significant gene sets were then clustered into modules of genes. Their brain expression was investigated according to the BrainSpan Atlas of the Developing Human Brain. Next, we extended each module by selecting the genes that were spatio-temporally co-expressed in the developing brain and physically interacting with those in modules. Last, we explored the incidence of autism susceptibility genes within original and extended modules. Our analysis identified 38 significant gene sets (FDR, q < 0.05). They clustered in four modules involved in ion cell communication, neurocognition, gastrointestinal function, and immune system. Those modules were highly expressed in specific brain structures across development. Spatio-temporal brain co-expression and physical interactions identified extended genes' clusters with over-represented autism susceptibility genes. Overall, our unbiased approach identified modules of genes functionally relevant to autism pathophysiology, possibly implicating them in phenotypic variability across subgroups. The findings also suggest that autism diversity likely originates from multiple interacting pathways. Future research could leverage this approach to identify genetic pathways relevant to autism subtyping.

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14. Tsujishita S, Nakashima D, Akizuki K, Takeuchi K. Elucidation of Exercise Conditions That Promote Motor Learning in Children With Autism Spectrum Disorder Who Have Motor Coordination Disorders: A Study Using Constant and Variable Practice. Cureus;2025 (Jun);17(6):e85987.

Background and aim Children with autism spectrum disorder (ASD) may experience coordination disorders, but the effects of different training conditions on motor learning in these children remain unclear. This study examined how constant versus variable practice impacts motor performance and learning in children with ASD and motor impairments. Methods Thirty-four children attending child development and daycare centers participated. Assessments included fine motor skills (Purdue Pegboard), gross motor skills (target-target task), visuospatial working memory (Corsi block tapping task), and the developmental disability questionnaire (Strengths and Difficulties Questionnaire). The primary outcome was the change in target-task performance before, during, and after practice, analyzed using repeated measures two-way ANOVA and Pearson’s correlation. Results No significant differences were observed for practice conditions or time effects alone, but significant interactions were found (F = 6.641, p = 0.015). Variable practice resulted in reduced pre- to post-test scores (p = 0.047), while constant practice showed stronger correlations between practice improvements and overall performance changes (p = 0.004, r = 0.666). Prosocial behavior was positively associated with performance improvements in the constant practice group (p = 0.018, r = 0.564). No significant correlations were found in the variable practice group. Conclusions Constant practice yielded greater motor learning improvements than variable practice. Additionally, prosocial behavior positively influenced motor learning in structured settings, highlighting the potential benefits of integrating motor and social skill interventions for children with ASD.

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15. Turnage DM, Conner NE. Profound Autism Prevalence and Impact on Parental Caregiver Quality of Life. J Psychosoc Nurs Ment Health Serv;2025 (Jul 17):1-7.

PURPOSE: The current study aimed to examine the effects of profound autism on caregiver quality of life (QOL). METHOD: This cross-sectional study involved parental caregivers of children aged 3 to 21 years with autism spectrum disorder living in Florida. Data were collected through surveys assessing caregiver QOL across physical, psychological, and environmental domains. Linear regression analyses examined the relationship between profound autism and caregiver QOL. RESULTS: The prevalence of profound autism in the sample was 22.4%. Regression analyses revealed that profound autism significantly predicted lower QOL in physical (F = 5.07, p = 0.007), psychological (F = 5.92, p = 0.003), and environmental (F = 11.01, p < 0.001) domains. Parental caregivers of children with profound autism reported substantially decreased QOL compared to those with children at other levels of autism severity. CONCLUSION: Findings indicate that profound autism is a prevalent condition and significant risk factor for reduced caregiver QOL across multiple domains. The negative impacts on physical, psychological, and environmental well-being highlight the need for targeted support services for families with children who have profound autism. [Journal of Psychosocial Nursing and Mental Health Services, xx(x), xx-xx.].

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16. Vetter MJ, Mason AE, Hansen KL. The Impact of Pediatric Outpatient Waiting Room Design on the Experiences of Autistic Children: A Pilot Study. Herd;2025 (Jul 15):19375867251353735.

Purpose: This study aimed to better understand how the design of the pediatric outpatient waiting room impacts the experiences of autistic children. Background: Outpatient waiting rooms are frequented by autistic children for a variety of healthcare services. Often, these settings consist of unpredictable, uncontrollable, and intense stimuli that may be difficult for children to tolerate. Due to the increased prevalence of autism and significant differences in sensory and self-regulation needs, it is essential to design waiting rooms that are more supportive and inclusive. Methods: Data collection included participant observations, semistructured interviews with the participant and their family, and administration of parent surveys. The Person-Environment-Occupation Model was used to guide data collection and analysis. Once all data was collected, a six-step thematic analysis process was used. Results: Three children and their families participated in this study. Three themes emerged: waiting room triggers, facilitating regulation, and supported inclusion. Each theme identified specific barriers and facilitators of the current waiting room design. Conclusions: This study contributes important perspectives to the literature when designing outpatient therapy waiting rooms. More research is needed to fully tailor healthcare design to be supportive of autistic children.

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17. Wall CA, Smith K, Shic F, Kelleher B, Hogan A, Will EA, Roberts JE. Heart rate defined sustained attention relates to visual attention in autism and fragile X syndrome. Sci Rep;2025 (Jul 14);15(1):25389.

Social attention, including shared attention and social orienting, is essential for positive social interactions. Although early visual social attention is often quantified using eye tracking, these indices may not consistently reflect cognitive engagement. Heart rate defined sustained attention (HRDSA) is a physiological measure that can index cognitive engagement alongside visual attention, leading to more comprehensive assessments of attentional processes that are particularly important in young, neurodiverse children with high support needs, including those with autism and fragile X syndrome (FXS). The present study examined visual and heart-defined measures of social attention to the Selective Social Attention task, a video-based assay of social attention, in children with autism, FXS, and neurotypical development. Linear mixed models examined group and condition effects in multiple cardiac indices and overall looking at the scene. Findings suggest that, overall, children across all groups engaged similarly across the experiment in most dimensions of HRDSA, and consistent with previous work, autistic children spent less time visually attending to the scene than either other group. HRDSA was positively associated with visual social attention. Combining physiological and visual attention measures may elucidate the complex nature of social attention and be especially valuable for neurodiverse children when typical assessments are inaccessible.

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18. Yarger HA, Straske D, Fitter M, Cassidy J, Redcay E. Relations among parents’ attachment, parenting quality, and autistic and nonautistic children’s social-emotional functioning. Attach Hum Dev;2025 (Jul 15):1-28.

Attachment theory has demonstrated the longitudinal impact that aspects of the parent-child dyad have on youth’s social-emotional development. Yet, little to no work has investigated whether parents’ attachment, including parental secure base script (SBS) knowledge and parental attachment styles, are associated with youth’s social-emotional functioning or examined mechanisms by which parents’ attachment leads to social-emotional functioning. Even less research has examined the role of parents’ attachment in parent-child dyads with youth diagnosed with autism spectrum disorder (ASD; further identified as autistic youth) and its impact on their subsequent social-emotional development. Thus, the current pre-registered study assessed whether parents’ attachment was associated with children’s maladaptive (internalizing/externalizing symptoms) and adaptive (social competence) social-emotional functioning via parenting quality (authoritative parenting) in 108 nonautistic parent-child dyads and 49 autistic parent-child dyads. Separate structural equation models were run by group. Higher levels of parents’ SBS knowledge predicted social competence in autistic parent-child dyads. Additionally, higher levels of parents’ attachment-related anxiety predicted lower levels of social competence in autistic parent-child dyads. Attachment-related avoidance predicted lower levels of social competence in nonautistic parent-child dyads and higher levels of externalizing symptoms in autistic parent-child dyads. Results suggest parents’ attachment representations may have unique contributions to youth’s social-emotional functioning.

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19. Zhao F, Sun L, Hu W, Zhang H. A novel mutation in the DYNC1H1 gene causing developmental and epileptic encephalopathy treated with ketogenic diet: A case report. Medicine (Baltimore);2025 (Jul 11);104(28):e43277.

RATIONALE: DYNC1H1 variants are associated with a spectrum of neurodevelopmental disorders, such as spinal muscular atrophy, severe intellectual disability, and epileptic encephalopathies, with the majority of observed cases attributed to de novo variants. PATIENT CONCERN: A 1-year-old Chinese boy presented with frequent seizures and developmental delay. DIAGNOSES: Cranial magnetic resonance imaging revealed malformations of cortical development. EEG indicated epileptic spasms and focal to bilateral tonic-clonic seizures. Trio-WES identified a de novo missense variant (c.3371A > G) located in exon 14 of the DYNC1H1 gene, which was confirmed by Sanger sequence. The final diagnoses were « DYNC1H1-related developmental and epileptic encephalopathy; malformations of cortical development. » INTERVENTION: Initial treatment with various ASMs proved ineffective. Finally, ketogenic diet treatment was introduced. OUTCOMES: The patient had achieved significant seizure control, and the follow-up EEG discharges were reduced. LESSONS: This report expanded the genotypic spectrum of DYNC1H1 gene, and highlights the potential therapeutic option of ketogenic diet for DYNC1H1-related developmental and epileptic encephalopathy, particularly in cases refractory to ASMs. These findings contribute valuable insights for the precision medicine approach in treating such patients.

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