1. Ali F, Shehzad A, Shahzad R, Khan S, Rashan L, Taha M. Cannabis Oil Protects Against Valproic Acid-Induced Autism Spectrum Disorder by Reducing Oxidative Stress. Dev Neurobiol. 2025; 85(3): e22969.

Autism spectrum disorder (ASD) is characterized by persistent problems in speech, social interaction, restricted and repetitive behavior patterns, lack of interest, and intellectual disabilities. Currently, there is no effective treatment available for the core symptoms of ASD. Among various treatments, herbal pharmacological treatments have shown promising results with fewer side effects, especially cannabidiol (CBD) treatment for the core symptoms and co-morbidities of ASD. The current study was performed to explore the therapeutic potential of CBD oil supplementation against the valproic acid (VPA)-induced autism mouse model. The autism mouse model was developed by exposing albino BALB/c mouse fetuses to VPA (600 mg/kg) on gestational day 13. On postnatal day (PND)-21, the male pups from both control and diseased groups were further divided into the following treatment groups: (I) control saline group, (II) VPA-exposed group, (III) VPA + CBD oil (100 mg/kg/day/orally) group, and (IV) standard group of VPA + risperidone (RISP) (0.5 mg/kg/day/orally) for 3 consecutive weeks. VPA mice displayed autistic behaviors upon delivery, such as increased anxiety levels, delayed response to painful stimuli, and impaired social interaction. VPA mice also showed depletion of glutathione and other antioxidant levels. CBD oil improved these dysfunctions, as seen through biochemical analysis and morphological staining of the hippocampal region, prefrontal cortex, and Purkinje cells. These findings showed that CBD oil treatment significantly improved behavioral abnormalities and lowered the oxidative stress in the autistic mouse model by acting as an antioxidant.

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2. Auer GA, Plener PL, Poustka L, Konicar L. Multi-level treatment outcome evaluation in adolescents with autism spectrum disorder. Child Adolesc Psychiatry Ment Health. 2025; 19(1): 58.

BACKGROUND: Aberrant resting state electroencephalography (rsEEG) is a well-established indicator of psychopathological brain activity in clinical disorders. In Autism Spectrum Disorder (ASD), a substantial body of research reports reduced Alpha activity in the electrocortical resting state of affected individuals. However, effective interventions based on neurophysiological patterns and objective biological markers of treatment outcome remain scarce. METHODS: In this randomized controlled trial, the primary objective was to examine rsEEG changes in adolescents with ASD following 24 sessions of slow cortical potential neurofeedback training (n = 21) compared to a treatment-as-usual control group (n = 20). A repeated-measures analysis of variance was used to assess group differences over time. Additionally, Pearson correlation analyses were conducted to exploratorily investigate associations between rsEEG measures and clinical psychopathology and affective well-being, as assessed via parental and self-report questionnaires at baseline and post-intervention. RESULTS: Analyses revealed significant differences in the development of rsEEG between the intervention groups: while Alpha activity increased in the experimental neurofeedback group, it decreased in the control group, demonstrating an opposite trend. Exploratory analyses showed that Delta activity decreased in both groups, with a more pronounced decrease in the experimental group. Correlational analyses revealed significant associations between subjective-psychological and electrocortical levels: lower alpha power at baseline was related to greater severity of ASD symptoms, while both lower alpha and higher delta power were associated with greater negative affect at baseline. Increases in alpha power after NF-training were linked with enhanced positive affect, whereas reductions in delta power corresponded to decreases in negative affect. CONCLUSIONS: This study provides insights into changes in resting-state neural activity before and after clinical interventions alongside clinical-psychological assessment, overcoming single-level assessments and emphasizing the need for multi-level outcome measures for a more comprehensive treatment evaluation. CLINICAL TRIAL REGISTRATION: DRKS00012339.

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3. Caumes R, Burger P, Mandel JL, Béhal H, Ghoumid J, Smol T. Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review. J Neurodev Disord. 2025; 17(1): 28.

The GenIDA project aims to improve the understanding and management of rare genetic forms of intellectual disability by fostering collaboration among patients, caregivers, healthcare professionals, and research professionals. Clinical data is provided by patients’ families via a structured questionnaire to identify medically relevant insights and better understand the natural history of rare diseases. This study focused on MED13L syndrome, analyzing data from 41 patients in the GenIDA database and comparing it with 102 cases from the scientific literature and 6 new descriptions of patients from our medical center.The GenIDA series confirmed the key features of MED13L syndrome, including global developmental delay, poor speech, intellectual disability, and cardiac defects (OMIM #616789), at frequencies similar to those reported in the literature. The GenIDA series identified a higher prevalence of visual impairment (76%) and highlighted under-recognized musculoskeletal issues, such as foot deformities, which had previously received little attention. This study highlights the value of family-reported data in describing the full phenotype of rare syndromes. A comprehensive review of published cases showed that patients with missense variants have more severe impairments, including increased cardiac defects, global developmental delay, and a higher incidence of epilepsy, than patients with premature truncated variants.These findings highlight the importance of family involvement in rare disease research and the need for further studies to explore genotype-phenotype correlations to improve patient care and outcomes.

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4. Davison KE, Liu T, Belisle RM, Perrachione TK, Qi Z, Gabrieli JDE, Tager-Flusberg H, Zuk J. Right-Hemispheric White Matter Organization Is Associated With Speech Timing in Autistic Children. J Speech Lang Hear Res. 2025: 1-15.

PURPOSE: Converging research suggests that speech timing, including altered rate and pausing when speaking, can distinguish autistic individuals from nonautistic peers. Although speech timing can impact effective social communication, it remains unclear what mechanisms underlie individual differences in speech timing in autism. METHOD: The present study examined the organization of speech- and language-related neural pathways in relation to speech timing in autistic and nonautistic children (24 autistic children, 24 nonautistic children [ages: 5-17 years]). Audio recordings from a naturalistic language sampling task (via narrative generation) were transcribed to extract speech timing features (speech rate, pause duration). White matter organization (as indicated by fractional anisotropy [FA]) was estimated for key tracts bilaterally (arcuate fasciculus, superior longitudinal fasciculus [SLF], inferior longitudinal fasciculus [ILF], frontal aslant tract [FAT]). RESULTS: Results indicate associations between speech timing and right-hemispheric white matter organization (FA in the right ILF and FAT) were specific to autistic children and not observed among nonautistic controls. Among nonautistic children, associations with speech timing were specific to the left hemisphere (FA in the left SLF). CONCLUSION: Overall, these findings enhance understanding of the neural architecture influencing speech timing in autistic children and, thus, carry implications for understanding potential neural mechanisms underlying speech timing differences in autism. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28934432.

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5. Gao J, Hou Y, Mao J, Gao F. Expression of miR-195-5p in the serum of children with autism spectrum disorder and its correlation with the severity of the disease. Psychiatr Genet. 2025.

OBJECTIVE: The target of this research was to explore the serum miR-195-5p expression in children with autism spectrum disorder (ASD) and its association with the disease severity. METHODS: The research enrolled 30 ASD children as the study group and 30 typically developing children as the control group. MiR-195-5p and FGFR1 were detected in the serum and cells of subjects via real-time quantitative PCR (RT-qPCR). The diagnostic values of miR-195-5p and FGFR1 were assessed using receiver operating characteristic (ROC) curves. The Pearson correlation coefficient was employed to assess the relationship between miR-195-5p and childhood autism rating scale (CARS), autism behavior checklist (ABC), and Clancy autism behavior scale (CABS) scores, as well as the correlation between miR-195-5p and FGFR1. Bioinformatics was utilized to predict the miR-195-5p-targeted gene. The interaction between miR-195-5p and FGFR1 was validated through luciferase reporter assay. RESULTS: Serum miR-195-5p levels were significantly increased in ASD children (P < 0.001). The ROC results indicated that miR-195-5p had the ability to differentiate between ASD children and control groups. The Pearson correlation coefficient confirmed that miR-195-5p was positively correlated with the CARS score (r = 0.6699), ABC score (r = 0.5386), and CABS score (r = 0.7096). Luciferase reporter experiments and RT-qPCR demonstrated that FGFR1 served as a downstream target gene of miR-195-5p. Further studies revealed that FGFR1 levels were decreased in ASD children (P < 0.001) and FGFR1 exhibited a negative correlation with miR-195-5p. The ROC results signified that FGFR1 could also distinguish ASD children from the control group. CONCLUSION: Serum miR-195-5p was elevated in ASD children and was positively associated with the disease severity. MiR-195-5p might function as a diagnostic and treatment target for ASD.

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6. Hanawa Y, Hayashi W, Nakamura D, Suzuki H, Aoyagi K, Iwami Y, Yamauchi M, Seki S, Iwanami A. Comparison of ADOS-2 scores in adults with attention deficit hyperactivity disorder and autism spectrum disorder. PCN Rep. 2025; 4(2): e70118.

AIM: Attention deficit hyperactivity disorder (ADHD) symptoms persist significantly into adulthood; however, only a few studies have examined the overlap between ADHD and autism spectrum disorder (ASD) symptoms in adults. This study compared ASD symptoms in adults with ASD, ADHD, and neurotypical controls using the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). METHODS: In total, 150 adults (69 with ADHD [mean age, 34.5 years; 43 men], 50 with ASD [mean age, 33.8 years; 35 men], and 31 controls [mean age, 38.7 years; 17 men]) completed Module 4 of the ADOS-2, the Autism Spectrum Quotient, Conners’ Adult ADHD Rating Scale, and the Wechsler Adult Intelligence Scale. RESULTS: Consistent with juvenile studies, adults with ADHD exhibited significant ASD symptoms, which were between those with ASD and neurotypical individuals. Item-level analysis suggested more similarities than differences between the two disorders; the differences may be of degree rather than quality. CONCLUSION: This study shows the importance of assessing full ASD symptoms in adults with ADHD.

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7. Heo JS, Yang SW, Lee S, Lee KS, Ahn KH. Sex-Based Differences in Prenatal and Perinatal Predictors of Autism Spectrum Disorder Using Machine Learning With National Health Data. Autism Res. 2025.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder influenced by genetic, epigenetic, and environmental factors. ASD is characterized by a higher prevalence in males compared to females, highlighting the potential role of sex-specific risk factors in its development. This study aimed to develop sex-specific prenatal and perinatal prediction models for ASD using machine learning and a national population database. A retrospective cohort design was employed, utilizing data from the Korea National Health Insurance Service claims database. The study included 75,105 children born as singletons in 2007 and their mothers, with follow-up data from 2007 to 2021. Twenty prenatal and perinatal risk factors from 2002 to 2007 were analyzed. Random forest models were used to predict ASD, with performance metrics including accuracy and area under the curve (AUC). Random forest variable importance and SHapley Additive exPlanation (SHAP) values were used to identify major predictors and analyze associations. The random forest models achieved high accuracy (0.996) and AUC (0.997) for the total population as well as for the male and female groups. Major predictors included pregestational body mass index (BMI) (0.3679), socioeconomic status (0.2164), maternal age at birth (0.1735), sex (0.0682), and delivery institution (0.0549). SHAP analysis showed that low maternal BMI increased ASD risk in both sexes, while high BMI was associated with greater risk in females. A U-shaped relationship between socioeconomic status and ASD risk was observed, with increased risk in males from lower socioeconomic backgrounds and females from higher ones. These findings highlight the importance of sex-specific risk factors, particularly pregestational BMI, and socioeconomic status, in predicting ASD risk.

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8. Hou Y, Zhao Y, Yang D, Feng T, Li Y, Li X, Liu Z, Yan X, Zhang H, Wu S, Liu X, Wang Y. Amelioration of biased neuronal differentiation in humanized mouse model of valproic acid-induced autism by precisely targeted transcranial magnetic stimulation. Bioeng Transl Med. 2025; 10(3): e10748.

Autism spectrum disorder (ASD) is a group of developmental diseases, which still lacks effective treatments. Pregnant exposure of Valproic acid (VPA) is an important environmental risk factor for ASD, but it’s long-term effects on the development of human neural cells, particularly in vivo, and the corresponding treatment have yet been fully investigated. In the present study, we first made a humanized ASD mouse model by transplanting VPA-pretreated human neural progenitor cells (hNPCs) into the cortex of immune-deficient mice. In comparison with wild type and control chimeric mice, ASD chimeric mice ((VPA)hNPC mice) exhibit core syndromes of ASD, namely dramatic reduction of sociability, social interaction and social communication, and remarkable increase of stereotype repetitive behaviors and anxiety-like behaviors. At cellular level, VPA-pretreatment biased the differentiation of human excitatory neurons and their axonal projections in host brain. Chemogenetic suppression of human neuronal activity restored most behavior abnormalities of (VPA)hNPC mice. Further, specific modulation of human neurons by a newly developed transcranial magnetic stimulation (TMS) device which could precisely target hPNCs effectively recued the core syndromes of ASD-like behaviors, restored the excitatory-inhibitory neuronal differentiation and axonal projection, and reversed the expression of over half of the VPA-affected genes. These data demonstrated that (VPA)hNPC mice could be used as a humanized model of ASD and that precisely targeted TMS could ameliorate the VPA-biased human neuronal differentiation in vivo.

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9. Ma Y, Yang R, Yan X, Song X, Zhan F. Genetic analysis and prenatal diagnosis of 15q11-q13 microduplication syndrome. J Matern Fetal Neonatal Med. 2025; 38(1): 2505752.

OBJECTIVE: 15q11-q13 microduplication syndrome, a genetic disorder caused by duplications in the 15q11-q13 region, has been associated with autism spectrum disorder (ASD); however, research on chromosome 15 microduplications is scarce. We explored the copy number variant (CNV) characteristics of 15q11-q13 microduplication syndrome, pathogenic mechanisms of ASD-related causative genes in this region, and factors affecting ASD development. METHODS: We performed laboratory investigations and data collection on seven cases of 15q11-q13 microduplications, comprising 5 prenatal and 2 postnatal cases, detected using chromosomal microarray analysis (CMA), comparing their CNV characteristics and clinical presentations. RESULTS: Chromosomal karyotyping was not performed in one case, while the results for the others were normal. CMA revealed one case each of a microduplication at 15q11.2q13.3, 15q11.2, 15q13.2q13.3, 15q13.3, and three at 15q11.2q13.1, varying in size from 444 kb to 9.6 Mb. Of the seven confirmed cases, postnatal facial anomalies were present in two male patients (cases 5 and 6), with one exhibiting intellectual disability, speech delay, ASD features, and hypotonia. No significant abnormalities could be observed in the five female patients. Concerning the five prenatal cases, four exhibited an ultrasound testing suggestive of abnormality, one displayed no abnormality on the ultrasound, although the mother of the fetus had a history of adverse pregnancy outcomes. Finally, only case 5 displayed facial deformities after birth. The remaining four fetuses did not retain any abnormality during postnatal follow-up. » CONCLUSION: The 15q11-q13 region may be associated with an increased ASD risk, and its clinical phenotype may be related to sex. Our study presents detailed clinical features and molecular genetic data, providing important insights into the link between 15q duplications and ASD and diagnosing and treating the syndrome.

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10. Martino DC, Brantley A, Scarpa A. The role of self-advocacy and self-determination in positive adjustment for autistic adolescents and young adults: a mini-review. Front Child Adolesc Psychiatry. 2025; 4: 1542543.

Autistic individuals have an increased likelihood for negative adjustment relative to their peers, often as a result of adverse experiences. Consistent with the biosocial model of resilience and the growing neurodiversity movement, identifying factors that may contribute to positive outcomes among autistic individuals is an urgent research priority. The present review explores the existing literature on the role of self-advocacy and self-determination in promoting positive adjustment for autistic adolescents and young adults. Findings point to encouraging associations of self-advocacy and self-determination with various adjustment outcomes, including educational and employment outcomes, socialization, relationship development, identity development, self-concept, and quality of life. Implications are discussed, including limitations, directions for future research, and considerations for designing interventions that support autistic individuals to act with the agency and autonomy they desire.

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11. Minnigulova A, Dragoy O, Arutiunian V. Atypical segregation of frontoparietal and sensorimotor networks is related to social and executive function impairments in children with ASD. Brain Imaging Behav. 2025.

Two possible indicators of a deficient segregation of functional networks are within-underconnectivity and between-overconnectivity. Both these processes can be observed in Autism Spectrum Disorder (ASD) to be associated with different core and co-occurring atypicalties of behavior. We focused on within- and between-network connectivity of Frontoparietal and Sensorimotor networks in ASD compared to typically developed (TD) peers and its links to social difficulties and impairments of executive and motor functions. To our knowledge, this study for the first time described between-network connectivity of Frontoparietal and Sensorimotor networks in ASD with relations to symptoms of ASD. In this study, we utilised resting-state functional MRI to investigate 121 participants with ASD and 84 TD children. We investigated between-group differences of the connectivity between Frontoparietal and Sensorimotor regions. We also conducted brain-behavior analysis for beta values of these connections and behavioral scores. Controlling for age and sex, we found a significant group difference within- Frontoparietal network (right and left posterior parietal cortices were underconnected in ASD) and between-networks (right posterior parietal and right lateral sensorimotor cortices were overconnected in ASD). In the ASD group, we also showed that within-Frontoparietal underconnectivity was related to lower scores of social and executive functions as well as between-networks overconnectivity was associated with social difficulties only. There were no significant relationships between scores of motor functions and beta values. We confirmed the hypothesis of deficient segregation for Frontoparietal and Sensorimotor networks in ASD. These findings highlight the importance of between-network connectivity investigation.

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12. Oxtoby K. The consultant anaesthetist who established a support group for autistic doctors. Bmj. 2025; 389: r784.

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13. Senniksen MB, Wyttenbach N, Page S, Dressman J. Combining high throughput ASD screening with the rDCS to streamline development of poorly soluble drugs. Eur J Pharm Sci. 2025: 107130.

Poor aqueous solubility and slow dissolution rate of active pharmaceutical ingredients (APIs) are often encountered challenges during oral drug development, leading to variable and insufficient bioavailability. To overcome these challenges, a so-called « enabling » formulation strategy is often pursued. Among these, amorphous solid dispersions (ASDs) are established as an effective means of improving drug absorption. However, evaluating the outcome of in vitro ASD screening approaches and relating this to the expected bioavailability increase can be difficult if not done systematically. Here we show, for the first time, how the combination of a high throughput ASD screening method with the refined Developability Classification System (rDCS) can streamline the formulation of poorly soluble APIs as ASDs. Using the Screening of Polymers for Amorphous Drug Stabilization (SPADS) approach to rapidly prepare ASD films, the improvement in dissolution performance of three APIs (befetupitant, celecoxib and itraconazole) was investigated with eight polymeric carriers. The results showed that the concentration of dissolved API was highly dependent on both the carrier and the drug load. For the APIs studied, Eudragit E, HPMC 100LV and Soluplus showed especially advantageous effects as carriers. Translating these results into the rDCS framework allowed for the visualization of the left-shift (more favorable for absorption) in classification. Several ASD films were classified as rDCS class I, showing a major improvement from the initial IIb classification of the pure API. This novel approach could be expanded to include a diverse set of screening methods for enabling formulation strategies, where the rDCS can allow for a direct comparison and support formulation selection.

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14. Wang X, Li Q, Lyu Z, Wu Y. Supplementing with Vitamin D during Pregnancy Reduces Inflammation and Prevents Autism-Related Behaviors in Offspring Caused by Maternal Immune Activation. Biol Pharm Bull. 2025; 48(5): 632-40.

Autism spectrum disorder (ASD), a neurodevelopmental disorder of unknown etiology with limited treatment options, has emerged as a significant public health concern. Studies have demonstrated that prenatal vitamin D deficiency is a risk factor for ASD development in offspring; however, the underlying mechanism remains unclear. In this project, vitamin D was administered orally to pregnant mice with/without the subsequent administration of polyriboinosinic polyribocytidylic acid (Poly(I:C)), which induced the maternal immune activation (MIA). Our results showed that vitamin D supplementation during pregnancy alleviated MIA-induced ASD-like behaviors in offspring. Moreover, vitamin D supplementation reduced the MIA-induced elevation of interleukin-6 (IL-6) and IL-17a levels in both the maternal ileum and fetal brains. It also suppressed signal transducer and activator of transcription 3 (Stat3) activation and the elevated expression of serum amyloid A1 and A2 (SAA1/2) in the ileum of MIA-affected pregnant mice. This study revealed that vitamin D may reduce the expression of IL-17a by inhibiting the IL-6/Stat3/SAA signaling pathway, thereby improving ASD-like behavior in offspring mice, and provide a new theoretical support for the prevention and treatment of ASD by scientific dietary interventions and nutritional supplement during pregnancy.

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15. Wilson C, Wakefield R, Prothero L, Janes G, Nolan F, Fowler-Davis S. Developing the allied health professionals workforce within mental health, learning disability and autism inpatient services: rapid review of learning from quality and safety incidents. BMJ Qual Saf. 2025; 34(6): 389-403.

BACKGROUND: Allied health professionals (AHPs) in inpatient mental health, learning disability and autism services work in cultures dominated by other professions who often poorly understand their roles. Furthermore, identified learning from safety incidents often lacks focus on AHPs and research is needed to understand how AHPs contribute to safe care in these services. METHODS: A rapid literature review was conducted on material published from February 2014 to February 2024, reporting safety incidents within adult inpatient mental health, learning disability and autism services in England, with identifiable learning for AHPs. 115 reports/publications were included, predominantly consisting of independent investigations by NHS England, prevent future deaths reports and Care Quality Commission reports. FINDINGS: Misunderstanding of AHP roles, from senior leadership to frontline staff, led to AHPs being disempowered and excluded from conversations/decisions, and patients not getting sufficient access to AHPs, contributing to safety incidents. A central thread ‘organisational culture’ ran through five subthemes: (1) (lack of) effective multidisciplinary team (MDT) working, evidenced by poor communication, siloed working, marginalisation of AHPs and a lack of psychological safety; (2) (lack of) AHP involvement in patient care including care and discharge planning, and risk assessment/management. Some MDTs had no AHPs, some recommendations by AHPs were not actioned and referrals to AHPs were not always made when indicated; (3) training needs were identified for AHPs and other professions; (4) staffing issues included understaffing of AHPs and (5) senior management and leadership were found to not value/understand AHP roles, and instil a blame culture. A need for cohesive, well-led and nurturing MDTs was emphasised. CONCLUSION: Understanding and recognition of AHP roles is lacking at all levels of healthcare organisations. AHPs can be marginalised in MDTs, presenting risks to patients and missed opportunities for quality improvement. Raising awareness of the essential roles of AHPs is critical for improving quality and safety in inpatient mental health, learning disability and autism services.

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16. Won S, Kim Y, Park J, Yoon SI, Cho JA. Development of Nutritional Counseling Materials for ASD Children: Focusing on the Food Exchange List. Clin Nutr Res. 2025; 14(2): 127-38.

Children with autism spectrum disorder (ASD) often present with selective eating behaviors and dietary imbalances, which contribute to nutritional deficiencies that can adversely impact growth and development. Despite increasing awareness of the role of nutrition in ASD management, existing nutritional interventions frequently fail to accommodate the unique dietary needs of this population. This study aimed to develop tailored nutritional counseling materials for ASD children by adapting the food exchange list framework originally designed for individuals with diabetes. A comprehensive food database was constructed using data from the Korean Diabetes Association, the Korea Rural Development Administration, and related resources, specifically addressing the dietary habits and nutritional deficiencies observed in ASD children. Representative foods were selected, standardized for exchange units, and visually documented through photographs to enhance usability. These elements were integrated into a practical, visually engaging educational brochure, which includes detailed food exchange unit tables, photographic representations of portion sizes, and portion standards to guide caregivers in meal planning. The materials focus on enhancing dietary diversity, correcting common nutrient deficiencies, and fostering balanced eating habits. However, limitations exist in adapting a diabetes-centric framework, which may not fully capture the unique dietary preferences and challenges of ASD children. Nevertheless, the developed materials provide a valuable resource for nutritional education and intervention, supporting the health and development of ASD children. Further research is required to refine these materials and evaluate their effectiveness across diverse settings and populations.

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17. Xing J, Lodi M, Flax J, Gwin C, Wilson S, Robinson A, Buyske S, Brzustowicz L, Bartlett C. Narrow Versus Broad Phenotype Definitions Affect Genetic Analysis of Language More Than Other Broad Autism Phenotype Traits. Res Sq. 2025.

Autism spectrum disorder is a heritable neurodevelopmental condition that displays heterogeneity in both presentation and etiology and it often presents with concomitant communication difficulties. The hypothesis behind the New Jersey Language and Autism Genetic Study is that genetic heterogeneity for component phenotypes of autism spectrum disorder may be reduced relative to the disorder as a whole. We previously published an initial phase of this study with family recruitment that used very restricted inclusion/exclusion criteria for both autism and language deficits in other family members. Here we present an expanded sample that includes a wider range of phenotypic presentations in the autism and language domains. We found that our previous findings on 15q and 16q, connecting autism spectrum disorder and oral/written communication, are only relevant to the narrow autism spectrum disorder and language impairment phenotypes (with posterior probability of linkage of 57% and 33%, respectively) though addition of families did reduce both critical regions. After variant prioritization and additional filtration based on segregation patterns and functional annotations, we determined a set of 10 and 6 top candidate risk genes with strong association to language impairment and reading impairment, respectively. The top candidate genes include both genes previously implicated in neurodevelopmental disorders (e.g., ZNF774 and DNAH3 ) and genes not previously reported but with strong evidence of being involved in neurodevelopmental phenotypes.

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