Pubmed (TSA) du 15/01/26
1. Al Tarsha N. Concept of de-diagnosing autism and ADHD raises pressing questions. Bmj;2026 (Jan 14);392:s51.
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2. Albekairi TH, Albakheet AS, Alosaimi TH, Bakheet SA, Nadeem A, Attia SM, Ansari MA, Hussein MH, Mahmoud MA, Ahmad SF. Ursolic acid enhances social behavior and modulates Th1, Th17, and T regulatory cell-related transcription factor signaling in the BTBR T(+) Itpr3(tf)/J mouse model of autism. J Neuroimmunol;2026 (Jan 15);410:578810.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by unusual social interactions, limited speech, and repetitive behaviors or hobbies. The BTBR T(+) Itpr3(tf/)J (BTBR) inbred mice are commonly used as a model for ASD because they display many genetic traits associated with autism. Ursolic acid, a naturally occurring compound found in several plants, has shown promise as a treatment for various inflammatory disorders and related experimental models. This study aimed to explore the potential effects of ursolic acid on self-grooming, marble burying, and social behaviors in BTBR mice. We examined how ursolic acid affects the expression of Th1 (IFN-γ, TNF-α, STAT1, STAT4, and T-bet), Th17 (IL-17, RORγt, and STAT3), and T regulatory (Treg; IL-10, TGF-β1, and Foxp3) markers in CD4(+) T cells within the spleens of BTBR and C57BL/6 mice. Additionally, we assessed the impact of ursolic acid on brain mRNA levels of IFN-γ, TNF-α, STAT1, STAT4, T-bet, IL-17, RORγ, STAT3, IL-10, TGF-β1, and Foxp3. Treatment with ursolic acid significantly affected behavioral issues in BTBR mice. In these animals, ursolic acid reduced the levels of Th1 and Th17 cells while increasing the levels of Treg cells. Furthermore, it decreased the expression of Th1 and Th17 mRNA and increased the expression of Treg-related mRNA in the brain. Our findings suggest that, due to its anti-inflammatory properties, ursolic acid may be a beneficial treatment for behavioral impairments in BTBR mice.
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3. Aljubour AA, Abdelbaki M, El Meligy O, Jabri BA, Bashkail FB, Alamoudi RM, Sabbagh HJ. The effect of culturally adapted oral hygiene dental visual aids on plaque removal in autistic children: A randomized clinical trial. Res Dev Disabil;2026 (Jan 15);169:105212.
BACKGROUND: Culturally tailored visual aids are a vital educational resource for facilitating skill acquisition in children with Autism Spectrum Disorder (ASD). This study evaluates the effectiveness of a culturally adapted dental visual aid, developed by Aljubour, in enhancing the oral hygiene of children with ASD over a six-month follow-up period. METHODOLOGY: A longitudinal, blinded, randomized, and controlled clinical trial was conducted over six months. Participants were allocated into two groups: Group I received the Aljubour culturally adapted dental visual aids, while Group II received conventional dental visual aids. Oral hygiene status was assessed using the Silness and Löe plaque index. RESULTS: Although the reduction in mean plaque index following six months of using the culturally adapted visual aids was not statistically significant (P = 0.120), a significant difference was observed between the two study groups (P = 0.002). CONCLUSION: The findings indicate that children with ASD who utilized the Aljubour culturally adapted dental visual aids demonstrated a significant improvement in oral hygiene status compared to those who used conventional dental visual aids after a six-month evaluation period.
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4. Bonuck K, George P, 3rd, Harniss M, Meeuwis F, Iadarola S. Researchers’ roadblocks to including people with intellectual and developmental disabilities (DD) in research: Translational science and I/DD program leaders insights. J Clin Transl Sci;2026;10(1):e2.
People with disabilities in the US are now a health disparities population. Though 25% of US adults have a disability, only 5% of medical research grants are disability related. Knowledge about researchers’ perceived barriers to including people with disabilities in research has focused on a single disability/condition and thus has limited translational science applications. Our CTSA’s Disability as Difference: Reducing Researcher Roadblocks (D2/R3) project examined such roadblocks towards inclusion of people with intellectual and developmental disabilities (I/DD). I/DDs are broad, heterogeneous conditions that originate in childhood, have varying impact and function, and persist throughout the lifespan. Strategies that mitigate their under-representation in research will likely have general applicability to all disabilities. In D2/R3’s first phase we conducted semi-structured interviews with translational science and I/DD program leaders at ten US institutions about perceived barriers and facilitators to including people with I/DD in research. Interviews were held with 25 individuals from partnering Intellectual and Developmental Disabilities Research Centers, University Centers for Excellence in Developmental Disabilities, and Clinical and Translational Science Award programs. Collaborative thematic coding identified key themes as: attitudinal barriers (e.g., assumptions about consent capacity), logistical barriers (e.g., accommodation costs), health disparities, and generalizability concerns. Findings informed development of a survey based on Prosci’s ADKAR® model of change management’s five components: Awareness, Desire, Knowledge, Ability and Reinforcement. Exclusion appears to stem from researchers’ lack of awareness, misconceptions, and knowledge gaps rather than insurmountable obstacles.
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5. Ferri E, Noris A, Appleton T, Peraio S, Di Rita A, Spezzani C, Battini R, D’Incerti L, Lenge M, Sica M, Macconi L, Mesin L, Fontanarosa M, Raggi M, Giordano F. Individuation of predictive parameters of posterior cranial fossa decompression in pediatric patients with Chiari I malformation and autism spectrum disorder. Childs Nerv Syst;2026 (Jan 14);42(1):28.
PURPOSE: There are no specific guidelines for posterior cranial fossa decompression (PCFD) in asymptomatic Chiari Malformation Type I (CM-I) patients with autism spectrum disorder (ASD). However, some studies suggest that surgery for symptomatic CM-I may improve ASD symptoms. This study aims to identify skull and brain morphometric parameters that could predict surgical outcomes in symptomatic CM-I with ASD, using artificial intelligence (AI). METHODS: This study included pediatric patients diagnosed with both symptomatic CM-I and ASD who underwent posterior cranial fossa (PCF) surgery. Eleven morphometric parameters were measured using computed tomography (CT) and magnetic resonance imaging (MRI) scans, including cerebellar tonsil descent, tentorium length and angle, cerebellum-to-PCF area ratio, PCF-to-cerebrum area ratio, PCF height and diameter, and various distances involving the corpus callosum, pons, fastigium, foramen magnum, and clivus length. ASD symptom changes were assessed through phone interviews and outpatient evaluations. A binary tree classifier AI model was used to identify patients who improved post-surgically. RESULTS: Our analysis showed that patients with a larger tentorium angle experienced some improvements in ASD symptoms after surgery, whereas those with a significantly smaller tentorium angle showed no improvement. AI identified a tentorium angle of 89.55° as a potential cut-off for distinguishing between outcome groups. No other morphometric parameters significantly influenced ASD symptom outcomes. CONCLUSIONS: This study evaluates the relevance of the tentorium angle width as a potentially valuable MRI-based morphometric parameter that could guide neurosurgeons in the decision-making process for this unique patient population. These findings may contribute to a more tailored approach for managing patients with CM-I and coexistent ASD.
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6. Fischer MC, Reis LM, Lenberg J, Friedman J, Seese SE, Muheisen S, Writzl K, Golob B, Peterlin B, Semina EV. Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes. HGG Adv;2026 (Jan 15);7(1):100539.
Human development is a complex process that requires precise control of gene expression through regulatory proteins. Recently, heterozygous variants in PRR12, encoding a proline-rich regulatory protein, were found to cause a variable phenotype involving developmental delay/cognitive impairment, neuropsychiatric diagnoses, structural eye anomalies, congenital heart and kidney defects, and poor growth. QSER1, encoding glutamine- and serine-rich protein 1, represents a paralog of PRR12 that shares 28% overall identity at the protein level and stronger conservation (43%) in the C-terminal region. QSER1 deficiency in human embryonic stem cells causes hypermethylation of many key transcription factor genes, implicating it in the development of multiple organs. Here, we present three unrelated individuals with neurodevelopmental phenotypes, variable other multisystem anomalies, and heterozygous variants in QSER1. This includes two novel de novo frameshift alleles (p.(Lys1565Argfs∗36) and p.(Phe896fs∗28)) and one ultra-rare canonical splice site variant resulting in a combination of abnormal transcripts, frameshift (p.(Glu1393Glyfs∗26)), and in-frame deletion of a conserved amino acid (p.(Glu1393del)), supported by in silico predictions and minigene assays. In situ hybridization revealed dynamic and broad expression of qser1 in zebrafish embryos, including a strong presence in the developing brain. These data suggest a possible role for QSER1/qser1 in vertebrate development and human disease.
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7. Gogate A, Chahrour MH. Recent advances in the neurogenomics of autism spectrum disorder. Curr Opin Genet Dev;2026 (Jan 13);96:102431.
Neurogenomics has provided exceptional insights into the genetic architecture underlying autism spectrum disorder (ASD), which is increasingly understood as a collection of individually rare disorders. This review synthesizes current advancements in the field, examining how both rare and common genetic variants contribute to ASD etiology. To functionally interpret the convergence on biological pathways that has emerged despite this genetic heterogeneity, multiomic approaches have been applied to identify gene regulatory networks disrupted in ASD. High-throughput technologies, such as clustered regularly interspaced short palindromic repeats (CRISPR) editing and massively parallel reporter assays, have been employed in human induced pluripotent stem cells and organoids to bridge the gap between genetic association and biological function. Finally, machine learning methods play a pivotal role in integrating and leveraging these complex datasets to inform personalized interventions.
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8. Hall KC, Marraccini ME, Karpinsky M, Middleton T, Knotek S, Mankowski J, Evarrs S, Maddox BB. Youth on the autism spectrum hospitalized for suicide related thoughts and behaviors: Characteristics and perspectives from the field. J Affect Disord;2026 (Jan 15);393(Pt B):120383.
Suicidal thoughts and behaviors (STB) are alarmingly prevalent in youth, with even higher rates among children diagnosed with autism spectrum disorder (hereafter autism) – a neurodevelopmental difference characterized by differences in social communication skills and restrictive and repetitive behaviors. Although autistic youth are hospitalized in psychiatric units at higher rates than their non-autistic peers, the limited research exploring hospital staff’s experience with autistic patients and their families highlights a disconnect between providers and parents and a lack of knowledge about autism. The current study leveraged medical records of 86 hospitalized patients (43 autistic, 43 non-autistic) aged 6-18, extracting quantitative and qualitative data to explore differences in demographic characteristics, co-occurring diagnoses, and reasons and stressors related to hospitalization for suicide-related crises, as well as hospital staff’s perceptions of autistic patients. Results indicated that autistic patients had more co-occurring diagnoses than non-autistic, with attention-deficit hyperactivity disorder being the most common in autistic patients and anxiety and depression common in both autistic and non-autistic patents. Autistic patients’ hospitalization was often related to aggression and stressors involving interpersonal skills. Behaviors related to rigidity were documented by hospital staff working with autistic psychiatric patients. Differences in factors related to hospitalization for suicide-related crises in autistic and non-autistic youth underscore the need for research on suicide risk factors unique to neurodivergent populations. Commonly documented behaviors of hospitalized autistic youth highlight the need for strength-based approaches to meet specific needs of autistic people.
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9. Holland L, Drummond K, Thomson S, Sominsky L, Marx W, Love C, Dawson SL, Harrison LC, Saffery R, Symeonides C, Tang ML, Burgner D, Sly PD, Vuillermin P, Ponsonby AL, Mansell T, Ranganathan S, O’Hely M. Prenatal and birth factors associated with child autism diagnosis: a birth cohort perspective. Pediatr Res;2026 (Jan 15)
BACKGROUND: Autism spectrum disorder (autism) describes a heterogeneous neurodevelopmental phenotype arising from the interplay of environmental and genetic factors in early life. METHODS: In a general population birth cohort, we employed a scoping approach to identify prospective associations between prenatal and birth factors and a subsequent autism diagnosis. RESULTS: Factors associated with increased likelihood of autism included those related to i) maternal health (maternal pre-pregnancy body mass index, pre-existing maternal mental health conditions, maternal use of selective serotonin reuptake inhibitors) ii) environmental exposures (maternal passive tobacco smoke exposure, and exposure to vinyl floors) iii) demographic factors (socioeconomic disadvantage). Factors associated with a decreased likelihood of autism included maternal dietary nutrition and supplementation (higher folic acid, magnesium, and iron, as well as adherence to the Australian Dietary Guidelines). CONCLUSION: Our findings extend the evidence that autism may have a multifactorial origin in early life. Further studies should explore the composite effects of these prenatal and birth factors on autism outcomes via shared biological pathways, such as inflammation, and oxidative stress, in concert with genetic predisposition. IMPACT: Autism spectrum disorder (autism) is a multifactorial condition. Here we report on multiple prenatal environmental, demographic, maternal and pregnancy factors that are associated with an increased likelihood of an autism diagnosis. For example, adherence to the Australian Dietary Guidelines during pregnancy is linked to a reduced likelihood of autism in the offspring, consistent with mounting evidence that prenatal nutrition impacts brain development. We examine how the multiple risk factors, identified by our comprehensive approach, may be linked to shared biological mechanisms. Future work should examine composite exposure measures acting through shared mechanisms as a more productive approach to understanding aetiology than focusing solely on individual exposures.
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10. Jäntti H, Michels S, Cherubini E, Giniatullin R, Malm T. Non-neuronal mechanisms in autism spectrum disorder (ASD): Microglia and astrocytes at the crossroads with neurons. Brain Behav Immun;2026 (Jan 12):106275.
Autism spectrum disorder (ASD) is a group of complex neurodevelopmental conditions characterized by persistent deficits in social interaction, communication, and repetitive behavior. Although the etiology of ASD has traditionally been linked to neuronal dysfunctions, emerging evidence highlights the significance of non-neuronal cells, particularly microglia and astrocytes, in the pathophysiology of ASD. Although both glial cell types exhibit diverse functional states, microglia are primarily associated with eliminating unused neurons and synapses during early brain development, whereas astrocytes in the tripartite synapse mainly support synapse formation and actively regulate excitatory and inhibitory neurotransmission. Together, microglia and astrocytes complement each other in shaping a dynamic excitatory/inhibitory (E/I) network in the developing brain. Abnormal glial function during critical neurodevelopmental periods is emerging as a significant, and possibly even a leading factor in the E/I imbalance underlying ASD. In this review we highlight recent findings on how microglia and astrocytes contribute to E/I imbalance and other neuronal dysfunctions in ASD, particularly during the vulnerable prenatal period. GABAergic transmission, with a shift in the polarity of GABA action early in development, represents a particularly vulnerable target for aberrant modulation by glia. Recent transcriptomic and multi-omics studies show that signaling pathways thought to be neuron-specific can also be activated in glia at distinct developmental time points, shaping their unique contributions to ASD. This growing knowledge opens new perspectives for using glia-targeted therapeutic approaches for mitigating debilitating aspects of ASD.
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11. Levanova NM, Vergunov EG, Savostyanov AN, Yatsyk IV, Ivanisenko VA. In silico reconstruction of the gene network for cytokine regulation of ASD-associated genes and proteins. Vavilovskii Zhurnal Genet Selektsii;2025 (Dec);29(7):1000-1008.
Accumulated evidence links dysregulated cytokine signaling to the pathogenesis of autism spectrum disorder (ASD), implicating genes, proteins, and their intermolecular networks. This paper systematizes these findings using bioinformatics analysis and machine learning methods. The primary tool employed in the study was the ANDSystem cognitive platform, developed at the Institute of Cytology and Genetics, which utilizes artificial intelligence techniques for automated knowledge extraction from biomedical databases and scientific publications. Using ANDSystem, we reconstructed a gene network of cytokine-mediated regulation of autism spectrum disorder (ASD)-associated genes and proteins. The analysis identified 110 cytokines that regulate the activity, degradation, and transport of 58 proteins involved in ASD pathogenesis, as well as the expression of 91 ASD-associated genes. Gene Ontology (GO) enrichment analysis revealed statistically significant associations of these genes with biological processes related to the development and function of the central nervous system. Furthermore, topological network analysis and functional significance assessment based on association with ASD-related GO biological processes allowed us to identify 21 cytokines exerting the strongest influence on the regulatory network. Among these, eight cytokines (IL-4, TGF-β1, BMP4, VEGFA, BMP2, IL-10, IFN-γ, TNF-α) had the highest priority, ranking at the top across all employed metrics. Notably, eight of the 21 prioritized cytokines (TNF-α, IL-6, IL-4, VEGFA, IL-2, IL-1β, IFN-γ, IL-17) are known targets of drugs currently used as immunosuppressants and antitumor agents. The pivotal role of these cytokines in ASD pathogenesis provides a rationale for potentially repurposing such inhibitory drugs for the treatment of autism spectrum disorders.
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12. Li B, Le J, Wang Y. A qualitative study on the experience of stigma of family caregivers of children with autism from the perspective of family empowerment. BMC Nurs;2026 (Jan 15);25(1):49.
BACKGROUND: This qualitative study investigates the experiences of stigma among caregivers of children with autism, from the viewpoint of family empowerment. The goal is to offer insights that can inform the development of personalized and effective family intervention strategies. METHODS: We invited fifteen family caregivers of children with autism to participate in semi-structured interviews. After each interview, the dialogue was transcribed verbatim. Subsequently, we analyzed the data according to the principles of thematic analysis. RESULTS: The experiences of caregivers of children with autism can be categorized into four main themes: (1) the challenges faced by family caregivers, (2) the family’s coping mechanisms in response to the child’s autism, (3) the acceptance and personal growth of caregivers of children with autism, and (4) social interactions from the perspective of family empowerment. CONCLUSIONS: Empowering caregivers to support their physical and mental health generates positive energy, while empathetic understanding offers emotional comfort. It is essential to develop individualized rehabilitation plans through collaborative family-based service mechanisms, provide respite services tailored to family needs, and integrate community resources to improve community engagement. Enhancing social support and increasing public awareness will strengthen the rehabilitation service system. Furthermore, by disseminating information through various channels and coordinating efforts across departments to provide comprehensive care throughout the illness, a family-centered collaborative model can be established, ultimately improving the health of both patients and caregivers. CLINICAL TRIAL NUMBER: Not applicable.
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13. Li J, Wang Y, Bi L, Yang X, Yang Y, Zhang Q, Mei X, Dang W, Feng G, Zhang X, Zhou R. Association and predictive value of blood branched-chain and excitatory amino acids with autism spectrum disorder severity. BMC Pediatr;2026 (Jan 14)
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with heterogeneous severity. Abnormal amino acid metabolism may contribute to ASD pathogenesis, but the relationship between amino acid levels and severity remains unclear. This study investigated the association and predictive value of blood amino acid profiles for ASD severity. METHODS: We enrolled 474 children with ASD, divided into mild-to-moderate (CARS 30-36, n = 123) and severe groups (CARS 37-60, n = 351). Tandem mass spectrometry measured blood branched-chain amino acids (BCAAs) and excitatory amino acids (EAAs). Multivariate logistic and restricted cubic spline regressions analyzed associations and dose-response relationships. Model performance was evaluated by ROC, calibration, and decision curve analysis. RESULTS: The severe group had higher total BCAAs (307.50 ± 79.94 vs. 284.74 ± 70.51 µmol/L, P = 0.005) and EAAs (245.18 ± 72.02 vs. 227.83 ± 67.32 µmol/L, P = 0.020). After full adjustment, leucine/isoleucine showed the strongest association with severe ASD (OR = 1.012, 95% CI: 1.006-1.018, P < 0.001), followed by glutamate (OR = 1.005, 95% CI: 1.002-1.009, P = 0.006). BCAAs, leucine/isoleucine, and EAAs exhibited linear positive correlations with severe ASD risk; glutamate showed nonlinear association. Leucine/isoleucine had optimal predictive performance (AUC = 0.807, 95% CI: 0.765-0.849; sensitivity 69.80%, specificity 76.42% at 125.595 µmol/L). Subgroup analysis indicated that the associations between amino acids and ASD severity were stronger in children ≤ 3 years old and those with low BMI, with valine showing an interaction with sex (P = 0.045). CONCLUSIONS: Blood BCAAs and EAAs were closely associated with ASD severity, with leucine/isoleucine as the strongest predictor. Amino acid profile-based models provide biomarker evidence for identifying severe ASD and precision intervention.
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14. Lu D, Liang Y, Huang X, Wei A, Lan Z, Xu J. Multi-omics causal inference of nuclear-encoded mitochondrial genes in autism spectrum disorder. J Affect Disord;2026 (Jan 15);393(Pt B):120428.
BACKGROUND: Mitochondrial dysfunction is increasingly implicated in autism spectrum disorder (ASD), yet its causal genetic basis remains unclear. Mitochondria are maternally inherited organelles essential for neurodevelopment and cellular energy homeostasis, while most mitochondrial proteins are nuclear-encoded and follow Mendelian inheritance. Clarifying how genetically regulated mitochondrial gene activity relates to ASD risk may provide new mechanistic insight. METHODS: We applied a multi-omics Mendelian randomization (MR) framework integrating methylation (mQTL), expression (eQTL; blood and 12 GTEx brain regions), and protein (pQTL) datasets. We used summary-data-based MR (SMR) with HEIDI to exclude LD-driven signals and Bayesian colocalization (PPH4 > 0.70) to require a shared causal variant. Where independent cis instruments were available, two-sample MR estimated effects and assessed robustness. ASD outcomes came from IEU-802, IEU-806, and FinnGen GWAS. RESULTS: Convergent evidence highlighted three mitochondria-related genes. CRAT and PRDX6 showed cross-layer support in specific datasets (mQTL/eQTL/pQTL) with overall protective associations. TMEM177 was supported across mQTL and eQTL and exhibited tissue-specific divergence-risk-increasing associations in cerebellar/cortical regions but protective associations in peripheral blood. TMEM177’s biology is consistent with a role in complex IV (COX2) assembly, CRAT regulates acetyl-CoA buffering and metabolic flexibility, and PRDX6 contributes to redox homeostasis and membrane repair. Locus-specific CpG variation was directionally aligned with gene expression and ASD risk. CONCLUSIONS: Our findings support a structure-metabolism-redox axis-TMEM177, CRAT, and PRDX6-linking mitochondrial regulation to ASD susceptibility.
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15. Martinez PGV, Sy MP. Factors Influencing the Implementation of a Disability Package for Children with Developmental Disabilities: A Policy Analysis. Acta Med Philipp;2025;59(20):7-24.
OBJECTIVE: This study analyzed the factors influencing the implementation of the disability benefit package for children with developmental disabilities (CDDs) in the Philippines. METHODS: Data collection was done through document review of policy documents and focused group discussions (FGDs). Guided by Walt and Gilson’s policy triangle framework, data were analyzed through content analysis. RESULTS: Twenty-two (22) policy documents were reviewed and a total of 16 participants joined the FGDs. Facilitators and barriers were identified and categorized through the policy elements: 1) context is anchored by presence of laws and policies but is hindered by issues on politics, governance, and labor force; 2) policy actors are hopeful in the continuous implementation of the policy but there is a lack of participation from all potential policy actors and limitations with human resources; 3) content is sound and comprehensive but there are costing issues and compliance concerns with requirements; and 4) processes emphasize quality assurance and promising initial dissemination efforts but the lack of stakeholder engagement activities and the tediousness of requirements discourage potential service providers. CONCLUSION: While the launch of the disability benefit package for CDDs in the Philippines seemed promising, the policy remains underutilized as the identified barriers outweigh the facilitators. Specific recommendations for the improvement and implementation of the benefit package were outlined and framed based on the policy triangle framework.
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16. Mohanan R, Aithal VU, Veena KD, Bellon-Harn ML. Development and Validation of Video Modeling Materials for Children With Autism Spectrum Disorder. Lang Speech Hear Serv Sch;2026 (Jan 15);57(1):213-223.
BACKGROUND: India is a linguistically and culturally diverse nation where social communication skills such as greeting, requesting, and nonverbal cues are expressed differently in comparison to Western norms. Hence, the direct application of Western video modeling (VM) resources in the Indian population is not advisable. As a result, this study focused on the development and validation of mixed VM materials designed to improve social communication among children with autism spectrum disorder (ASD) in the Indian context. Given the scarcity of culturally relevant VM materials for intervention of children with ASD in India, this research fills a critical gap by creating tailored resources. This work is the initial phase of a broader investigation into the impact of a mixed VM intervention in children with ASD in the Indian context. METHOD: The principle of iterative processes guided the three distinct phases of development of VM material. The first phase focused on the development and validation of activities, followed by the second phase, the development and validation of scripts. In the third phase, socioculturally appropriate videos were developed and validated. Throughout the validation process, 11 stakeholders were consulted. A 5-point rating scale was used to validate in terms of appropriateness, feasibility, simplicity of language, sociocultural relevance, and video image clarity. RESULTS: The content validity ratio (CVR) was used to validate activities, scripts, and videos. CVR scores of 1.0, 0.81, and 0.77 were obtained in the validation process of activities, scripts, and videos, respectively. CONCLUSIONS: The findings suggest that these videos are suitable for exploring the effects of mixed VM interventions. This is the first step toward the successful implementation of mixed VM interventions for early social communicative skills in children with ASD in India.
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17. Moncatar TRT. Addressing the Gaps: Strengthening the Implementation of the Z Benefit Package for Children with Developmental Disabilities. Acta Med Philipp;2025;59(20):5-6.
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18. Naguy A. Leucovorin for Autism. Am J Ther;2026 (Jan 15)
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19. Renteria RA, Grineski SE, Gomez J, Bilder D, Collins TW, Bakian AV. Associations between prenatal PM(2.5) exposures and intellectual disability: Are there differential impacts based on co-occurrence of autism spectrum disorder?. Environ Res;2026 (Jan 15);289:123378.
Prenatal fine particulate matter (PM(2.5)) has been associated with intellectual disability (ID) and autism spectrum disorder (ASD), separately. Its role in co-occurring ID with ASD (ID + ASD) is less understood. To address this gap, this study uniquely disaggregates ID-only from ID + ASD to assess the associations between prenatal PM(2.5) exposure and odds of ID-only and ID + ASD across multiple exposure windows and measures. For children born in Utah, U.S.A., children with ID (ID-only and ID + ASD) were matched 1:3 with non-ID affected controls. PM(2.5) exposure was estimated across four prenatal periods (i.e., preconception, 1st, 2nd, and 3rd trimester) using long-term averages and exceedances of WHO and U.S. NAAQS 24-h thresholds and assigned to children. Associations were examined using multilevel multinomial logistic regressions. Results show that increase in long-term PM(2.5) during preconception and first trimester was associated with increased odds of ID-only and ID + ASD. Exceedances of the WHO 24-h threshold (15 μg/m(3)) during preconception were linked to ID-only, while first trimester WHO 24-h exceedances were linked to both ID-only and ID + ASD. U.S. NAAQS 24-h threshold (35 μg/m(3)) exceedances during preconception and first trimester were associated with ID + ASD. Results reveal that long-term PM(2.5) exposure during preconception and the first trimester elevates risk for both ID-only and ID + ASD. ID + ASD appears particularly sensitive to preconception and first trimester exceedances of the U.S. NAAQS 24-h threshold, whereas ID-only may be more sensitive to exceedances of the WHO 24-h threshold during preconception. By distinguishing these neurodevelopmental outcomes, these results underscore timing and magnitude of prenatal PM(2.5) exposure differentially influence neurodevelopmental risk. They also highlight the need for targeted public health interventions and stronger air quality regulations to protect early neurodevelopment.
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20. Ricou C, Mofid Y, Roché L, Bufo MR, Houy-Durand E, Malvy J, Lemaire M, Elian JC, Martineau J, Bonnet-Brilhault F, Aguillon-Hernandez N, Wardak C. Invariant response to faces in ASD: Unexpected trajectory of oculo-pupillometric biomarkers from childhood to adulthood. Brain Res;2026 (Jan 15);1871:150070.
Human faces contain a large amount of information, capturing our attention and inducing physiological engagement. Oculometric (visual exploration) and pupillometric (physiological reactivity) parameters quantified by eye-tracking are potent tools for exploring attraction to human faces from an early age. Autistic people have particularities in visual exploration and physiological reactivity to faces, with reduced time spent on the eyes associated with reduced pupil dilation. To date, no study has assessed the age differences of oculo-pupillometric parameters in response to faces. This study aimed to characterize these parameters in neurotypical (n = 150) and autistic (n = 109) populations (3-34 years old). Visual stimuli were organized along a social saliency gradient, from objects to faces. Oculo-pupillometric responses to faces appear invariant across age in the autistic population, contrary to the neurotypical population that shows an increasing attentional focus on the eye region with age, and a larger pupillary sensitivity to social salient stimuli at an early age. Our results highlight an apparent lack of maturation of face processing in autismspectrum disorder (ASD) at the population level, possibly hiding atypical and complex individual trajectories. However, these findings also point to age windows in which specific parameters could be used as discriminating biomarkers of ASD.
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21. Stanton JC, Peel NL, Mills CJ, Breen PP. RedMan-GreenMan: Co-Designed Pedestrian Safety Game Prototype for Children With Autism. JMIR Serious Games;2026 (Jan 15);14:e69260.
This letter presents the conceptualization, design, and technical evaluation of the RedMan-GreenMan game co-designed with carers, aimed to help children with autism spectrum disorder (hereafter autism) acquire pedestrian safety skills. While the system has been implemented and is in active use, no empirical evaluation of learning outcomes or behavioral impact has been conducted to date, and the focus of this work is on system development, functionality, and technical evaluation.
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22. Trevino CT, Lund EA. Comparing Two Vocabulary Interventions for Children Who Use Augmentative and Alternative Communication. Lang Speech Hear Serv Sch;2026 (Jan 15);57(1):180-196.
PURPOSE: The purpose of this study is to compare the effects of two vocabulary interventions (a structured, explicit instruction intervention and a naturalistic, incidental teaching intervention) for children who use robust, high-tech augmentative and alternative communication (AAC). METHOD: This study used an adapted alternating-treatments single-subject design to compare the effects of both interventions for early language learners with intellectual and/or developmental disabilities who use AAC. Three children who use robust, high-tech AAC devices participated in this study across 9 weeks. All participants attended two intervention sessions weekly: one explicit instruction session and one incidental teaching session. The order that children received the intervention sessions within each week was randomized. One word list (containing 10 words) was taught in each session; different word lists were used for explicit instruction and incidental teaching sessions. All target words were probed prior to intervention and after intervention to determine the total number of words learned in each intervention. RESULTS: All children learned words in both interventions. However, all children learned words more efficiently in the structured, explicit instruction intervention. CONCLUSION: These preliminary data suggest that a structured, explicit instruction intervention yields better vocabulary outcomes than a naturalistic, incidental teaching intervention for early language learners who use robust, high-tech AAC.
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23. Uglik-Marucha N, Show S, Vitoratou S, Happé F, Belcher H. ‘I fit the category of the box, it just doesn’t describe me well.’ Exploring the perspectives of autistic women and gender-diverse individuals on self-report autism measures. PLoS One;2026;21(1):e0337600.
Psychological assessments play a significant role in both clinical decision-making and the interpretation of research findings, with the quality of these inferences depending on the validity of the measures used. Recent evidence suggests there are gender differences in the presentation of autism, raising concerns about the validity of existing autism tools to measure autistic traits in women and the subsequent implications for clinical inferences and research. This study explored the perspectives of autistic women on the relevance of existing autism questionnaires to their lived experience, alongside additional input from gender-diverse individuals assigned female at birth (AFAB). Through interviews, focus groups, and online surveys, 22 autistic women and AFAB gender-diverse individuals shared their experiences using and perspectives on the Autism Spectrum Quotient-10, 14-item Ritvo Autism & Asperger Diagnostic Scale, and Broad Autism Phenotype Questionnaire. The interview data were analysed using reflexive thematic analysis, identifying two overarching themes: (1) questionnaires measure only one way to be autistic, and not in an autism-friendly manner, and (2) enhancing questionnaires’ relevance for autistic women and individuals socialised as female: key missing experiences to include. The findings suggest that some of the most frequently used autism measures may not fully capture the experiences of autistic women and AFAB gender diverse individuals. Significant gaps were identified, indicating that important aspects of the participants’ lived experiences were missing. Furthermore, concerns were raised about the questionnaires’ lack of relevance to the autistic population as a whole. The findings underscore the non-satisfactory content validity of these tools for measuring autism in autistic women and AFAB gender-diverse individuals. This highlights the need for their refinement to better reflect contemporary understandings of different presentations of autistic traits, particularly the impact of gendered experiences, in a way that avoids the introduction of possible new biases and remains relevant and accessible to autistic individuals.
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24. Westgate V, Thompson C, Caramaschi D, O’Mahen H. Correction: « I ask them what autism means for them »: a qualitative study of staff experiences of working with autistic women and birthing people in community perinatal mental health teams. BMC Psychiatry;2026 (Jan 15);26(1):47.
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25. Wong OWH, Xu Z, Chan SSM, Mo FYM, Shea CKS, Su Q, Wan MYT, Cheung CP, Ching JYL, Tang W, Tun HM, Chan FKL, Ng SC. A novel synbiotic (SCM06) for anxiety and sensory hyperresponsiveness in children with autism spectrum disorder: an open-label pilot study. NPJ Biofilms Microbiomes;2026 (Jan 14)
Anxiety and sensory hyperresponsiveness are common in children with autism spectrum disorder (ASD), but effective treatments are lacking. Targeting the microbiota-gut-brain axis is a promising strategy. This open-label pilot study evaluated SCM06, a novel synbiotic designed to target anxiety and sensory hyperresponsiveness, in 30 children with ASD (mean age 8.2 years, 22 males). We assessed symptom improvement, compliance, and safety, and collected stool samples for metagenomics and metabolomic analysis over 12 weeks. SCM06 was safe and well-tolerated, and significant improvements were observed in anxiety, sensory hyperresponsiveness, and abdominal pain. Following SCM06 treatment, increase in Bifidobacterium pseudocatenulatum was associated with improved functional abdominal pain (p = 0.0011, p(_adj) = 0.054), while the abundances of valeric acid and butyric acid increased (p(_adj) = 0.004 and p(_adj) = 0.072). Key microbial species, Coprococcus comes and Veillonella dispar, were candidate mediators of symptom improvements. Further randomised controlled trials are warranted to confirm its clinical efficacy.
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26. Yamada A, Nakanishi D, Nogimura A, Luo Y, Katsuki F, Ito Y, Imai F, Watanabe N, Sakata M, Akechi T, Horikoshi M, Furukawa TA. Efficacy of smartphone-based behavioral activation, assertiveness training, and problem-solving therapy for parenting stress in parents raising autistic children: a multicenter, randomized, open-label, parallel-group trial. BMC Psychiatry;2026 (Jan 14)
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27. Yeh CH, Chen JR, Chao YP, Wu CT, Chou TL, Gau SS, Ni HC, Lin HY. White matter alterations linked to social cognitive improvements following theta burst stimulation of the right inferior frontal gyrus in autism. Neuroimage Clin;2026 (Jan 10);49:103948.
OBJECTIVES: Intermittent theta burst stimulation (iTBS) over the right inferior frontal gyrus (RIFG) has been shown to improve social cognitive function in autistic individuals. However, whether this intervention modulates underlying brain structure remains unknown. This study aimed to investigate the impact of iTBS over the RIFG on white matter macro- and micro-structure in intellectually able autistic children and young adults. MATERIALS AND METHODS: In this 8-week double-blind, parallel, sham-controlled trial, autistic participants (aged 8-30 years) were randomized to receive twice-weekly neuro-navigated iTBS targeting the RIFG or sham stimulation using a sham coil applied over the same target. The social cognitive performance was measured with the Frith-Happé Animations Test. Diffusion MRI and behavioral assessments were acquired at baseline, week 8 (immediately after intervention), and week 12 (four-week follow-up). After quality control, data from 26 participants in the active group and 23 in the sham group were included in the final longitudinal whole-brain fixel-based analysis (FBA). RESULTS: No significant treatment-by-time interaction emerged: changes in the composite fiber-density-and-cross-section (FDC) metric did not differ between groups at either week 8 or week 12. Within the active group, however, a significant negative association was found between the change in FDC in the rostral body of the corpus callosum and the improvement in social cognitive performance from baseline to week 12. CONCLUSIONS: An 8-week course of neuro-navigated RIFG iTBS did not produce significant group-level white matter macro/microstructural changes compared to sham stimulation in our autistic cohort. Nevertheless, the finding that individual improvements in social cognition correlated with specific white matter alterations in the active group suggests a potential link between treatment-induced benefits and neural plasticity. Future studies should investigate whether different TBS parameters could induce more pronounced or detectable structural changes on MRI in autistic individuals and further explore the intricate mechanisms underlying observed brain-behavior relationships.