1. Non-epileptic paroxysmal events in Rett syndrome: A systematic review of case-based and observational evidence. Dev Med Child Neurol;2026 (Jan 8)

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2. Akkus N, Canbal A, Guneysu S, Gokce E, Duzgun P, Barıs İ. Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability. Mol Genet Genomic Med;2026 (Jan);14(1):e70180.

INTRODUCTION: Whole-exome sequencing (WES) is considered an important tool in investigating the etiology of developmental delay/intellectual disability (DD/ID) and epilepsy. Genetic diagnosis with WES has become an important tool in patients with DD/ID and epilepsy. METHODS: In this study, we present the findings of WES conducted between August 2021 and December 2024 on children with DD/ID and epilepsy. We evaluated clinically important variants identified by WES in 65 pediatric patients by retrospective analysis. RESULTS: Sixty-five patients with DD/ID were included in the study, 34 of whom (52.3%) were male. The most common symptom was epilepsy (45 patients, 69.2%), and the second most common symptom was DD/ID in 39 patients (60%). A total of 19 pathogenic/likely pathogenic variants (31.2%) with confirmation made in the parents and probands, 9 variants were determined to be de novo. In this study, the number of patients diagnosed was determined as 19 (31.2%). We detected a de novo likely pathogenic heterozygous c.142 T>C (p.Cys48Arg) variant in the BCL11A gene in the first reported Turkish patient with BCL11A-related intellectual disability. Other previously unreported de novo variants identified: ASXL3 gene, NM_030632.2 c.3613G>T p.(Glu1205Ter), ANKRD11 gene, NM_001256182.2 c.4750G>T, SHANK3 gene, NM_001372044.2 c.4711_4712del. CONCLUSION: The cases we present contribute to the expansion of the spectrum of genetic variants in genetically heterogeneous patient groups such as DD/ID and epilepsy. These previously unreported variants advance our molecular understanding and broaden the clinical spectrum of these rare genetic disorders.

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3. Anderer S. WHO Analysis Finds No Causal Link Between Vaccines and Autism. Jama;2026 (Jan 9)

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4. Arutiunian V, Santhosh M, Neuhaus E, Borland H, Bernier RA, Bookheimer SY, Dapretto M, Gupta AR, Jack A, Jeste S, McPartland JC, Naples A, Van Horn JD, Pelphrey KA, Webb SJ. Altered aperiodic EEG spectral power during speech perception task is associated with verbal communication in youths with Autism Spectrum Disorder. bioRxiv;2025 (Dec 29)

Most children with Autism Spectrum Disorder (ASD) have co-occurring language impairment, but its neural mechanisms are not well known. Excitation (E) / inhibition (I) imbalance is considered as a key neurobiological mechanism of ASD, and several electroencephalography (EEG)-based E/I balance metrics have been proposed in the previous studies. The goal of the present research was to focus on these metrics abstracted from the speech perception task to investigate their relation to language/communication in autistic youths. We used a high-density 128-channel EEG to register neural responses during speech perception task in the sex- and age-matched groups of youths with ASD ( N = 162) and typically developing (TD) controls ( N = 144), aged 7-18 years old. The results revealed alterations in the E/I measures in the ASD group, pointing to a higher level of excitation or neural ‘noise’ in the cortex as well as broadband reduction of spectral power during speech perception. A greater neural ‘noise’ reflected in the reduction of aperiodic exponent and offset was associated with lower verbal communication skills in youths with ASD. The findings suggested that the higher ‘noisiness’ in the cortical systems may be a relevant marker to monitor in relation to language/communication in ASD.

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5. Benecke RM, Williams ZJ, Holmes LG, Miller JS, Kaplan-Kahn EA. Measurement Invariance of the PROMIS Family Relationships Scale Among Autistic and General Population Adolescents. Autism Res;2026 (Jan 8)

Social relationships are a key component of quality of life, a high-priority outcome for autistic people, and family relationships are critical in adolescence. The PROMIS Family Relationships scale has been well validated for use with the general population, but psychometric validation in the autistic population is lacking. This study investigated measurement invariance of the PROMIS Family Relationships among autistic and general population adolescents. The scale demonstrated scalar invariance between the groups, providing evidence that it measures the same construct equivalently and scores can be meaningfully compared between groups. With a well-validated self-report measure, researchers can ask autistic teens directly about their experiences of their family relationships, rather than relying solely on parent proxy report. Autistic people and their families value research about quality of life, including family relationships. When researchers use tools that were originally developed for the general population, rather than those designed specifically for autistic people, they must first make sure that the tool measures the same thing in the same way for autistic people. This study tested whether a tool that works well for the general population, the PROMIS Family Relationships scale, also works well for autistic teens. We found that the scale did measure the same thing in the same way for autistic teens, meaning that researchers can confidently do research using this scale with autistic teenagers and compare answers from both groups. This is important because most research on autism and family relationships asks questions of parents, but this scale can be used directly with autistic teens themselves to ask about their experiences. eng

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6. Bumbacco C, Watson SL, Lunsky Y. Clinician Experience Using the Socio-Sexual Knowledge and Attitudes Assessment Tool-Revised (SSKAAT-R). J Appl Res Intellect Disabil;2026 (Jan);39(1):e70176.

BACKGROUND: Socio-sexual assessment tools like the SSKAAT-R are valuable for sexual education programming and interventions with people with intellectual and developmental disabilities. Although studies have been conducted on the psychometric properties of the SSKAAT-R, less is known about how clinicians use the tool in practice with individuals. As part of a larger research project, this paper explores clinicians’ experiences using the SSKAAT-R. METHOD: A total of 17 clinicians participated in semi-structured interviews. Themes were identified through Thematic Analysis. RESULTS: Clinicians spoke to the versatility of the SSKAAT-R administration. Clinicians often used the SSKAAT-R to assess client vulnerability and risk. Clinicians also spoke to the importance of the attitudes section for understanding client beliefs, while the knowledge section helped identify strengths and skill gaps. CONCLUSIONS: This study sheds light on how clinicians use the SSKAAT-R with individuals who have intellectual and developmental disabilities. Clinicians use the SSKAAT‐R in various ways depending on the person they are working with. They find both the ‘attitudes’ and ‘knowledge’ parts helpful but for different reasons. Learning how the SSKAAT‐R is used can help other workers in disability services know how to use it in their own work. The findings in this study are similar to what other studies have found when looking at how professionals use tools like the SSKAAT‐R. eng

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7. Chen X, Chen C, Lan X, Zhang X, Li T, Zhang P, Cheng G, Zhou W, Wang Z, Xie Y, Zeng S, Zhou W, Wang M. Machine learning and causal inference applied to the gut metagenome-metabolome axis reveals a link between neonatal jaundice and autism spectrum disorder. mSystems;2026 (Jan 9):e0140525.

Neonatal jaundice (NJ) might increase the risk of autism spectrum disorder (ASD) in children. This study examined whether alterations in the gut microbiota could explain the link between NJ and ASD. We analyzed three cohorts: NJ cohort 1 comprised 68 neonates with NJ and 68 healthy controls (HCs); NJ cohort 2 included 56 infants with NJ and 14 HCs; and the ASD cohort consisted of 43 children with ASD and 31 typically developing children. Fecal samples were collected aseptically. We performed 16S rRNA sequencing (NJ cohort 1), liquid chromatography with tandem mass spectrometry metabolomics (NJ cohort 1 and ASD cohort), and shotgun metagenomics (NJ cohort 2 and ASD cohort). We characterized the gut DNA virome, quantified bile acid metabolism genes, and integrated multi-omics data using causal mediation and machine learning causal inference. Both NJ and ASD were associated with increased diversity of bile acid metabolism genes, suggesting biomarker potential. The gut DNA virome was also identified as a potential biomarker. Causal mediation analysis showed that the gut DNA virome influences bile acid metabolism genes in both conditions. Using machine learning-based causal modeling, we further found that gut human betaherpesviruses and human mastadenoviruses contribute to NJ and ASD, respectively, mediated by gut bile acid-metabolizing bacteria. These findings suggest that perturbations in the virome and bile acid-metabolizing bacteria may explain the link between NJ and ASD. Our results indicate that NJ and ASD are associated with bile acid metabolism alterations, which are also influenced by the gut DNA virome. Dysbiosis of the gut DNA virome and bile acid-metabolizing bacteria may mechanistically link NJ and ASD. IMPORTANCE: Human epidemiological studies have established an association between perinatal pathogenic infections and autism spectrum disorder (ASD), and the gut microbiota plays an extremely important role in this relationship. Neonatal jaundice (NJ) may increase the risk of ASD in children. However, it remains unclear whether alterations in the gut microbiota affect the association between NJ and ASD. Both NJ and ASD are linked to altered gut bile acid metabolism and significantly elevated gene diversity among bile acid metabolism enzymes, and these relationships are influenced by the gut virome. Gut human betaherpesviruses and human mastadenoviruses influence the development of NJ and ASD, respectively, by influencing the abundance of gut bile acid-metabolizing microbes. Alterations of the gut virome and bile acid-metabolizing bacteria appear to explain the link between NJ and ASD. There is a lack of effective treatment options for ASD. We found that both NJ and ASD are linked to altered bile acid metabolism. Gaining a comprehensive understanding of the role of the bile acid-gut microbiota axis in the pathogenesis of NJ and ASD, as well as regulating this axis, may be crucial for developing novel preventive and therapeutic strategies for ASD.

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8. Fish LA, Gliga T, Gui A, Ali JB, Mason L, Johnson MH, Charman T, Falck-Ytter T, Jones EJH, Kandaswamy R, Happé F, Wong CCY. Epigenome-wide analysis identifies DNA methylation signatures associated with the infant pupillary light reflex, a candidate intermediate phenotype for autism. Sci Rep;2026 (Jan 8);16(1):325.

The pupillary light reflex (PLR), the automatic constriction of the pupil in response to increased luminance, is a candidate early intermediate phenotype associated with autism, with potential to help understand early neurodevelopmental differences because it is controlled by relatively simple neural circuitry. We conducted epigenome-wide association analyses of PLR onset latency and constriction amplitude at 9, 14, and 24 months, with 51 male infants enriched for familial autism likelihood (~ 80% with a first-degree autistic relative), using buccal DNA collected at 9 months. We identified four epigenome-wide differentially methylated probes (p < 2.4 × 10⁻⁷) significantly associated with PLR latency at 14 and 24 months, and 14- to 24-month developmental change in latency. Probes linked to PLR amplitude were identified at a discovery threshold (p < 5 × 10⁻⁵). Regional analyses revealed multiple differentially methylated regions associated with both latency and amplitude. Associated probes were enriched for neurodevelopmental processes and autism-associated genes, including NR4A2, HNRNPU, and NAV2. While the findings are most directly relevant to male infants in whom PLR variability may be associated with familial autism likelihood, they provide novel evidence that DNAm contributes to early variation in PLR. These insights into the biological underpinnings of this reflex support PLR as an early intermediate phenotype associated with autism.

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9. Ge Y, Tian T, Li B, Axerio-Cillies P, Chen W, Qin X, Zhao M, Sun QC, Li J, Floresco SB, Liu L, Yang X, Wang YT. GluN2B-specific NMDAR positive allosteric modulation reverses cognitive and behavioral abnormalities in Mecp2 and Disc1 transgenic mice. Sci Adv;2026 (Jan 9);12(2):eady3891.

The GluN2B subunit of N-methyl-d-aspartate receptors (NMDARs) plays a central role in synaptic development and plasticity, and its hypofunction is linked to autism spectrum disorder (ASD), severe neurodevelopmental delay, and other neuropsychiatric diseases. Therefore, enhancing the function of this NMDAR subunit may provide an effective therapeutic strategy for correcting synaptic and behavioral deficits associated with GluN2B hypofunction. Here, we developed a class of GluN2B-selective positive allosteric modulators and characterized the pharmacological properties and binding site of the lead compound, 175. Systemic application of 175 facilitates hippocampal long-term depression in rats. 175 restores performances in open-field exploration and three-chamber test in Mecp2 overexpression mice that exhibit GluN2B hypofunction and autism-like features. Treatment with 175 also reverses behavioral abnormalities in open-field, Y-maze spontaneous alternation, three-chamber test, and prepulse inhibition in Disc1 mutant mice. Our findings introduce a pharmacological tool for selectively potentiating GluN2B-NMDAR function and highlight its therapeutic potential for cognitive and behavioral symptoms associated with GluN2B hypofunction.

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10. Gupta S, Heinrichs E, Rodriguez C, Friedman E, Gallardo S, Dermirjie T, Panosian T, Phan K, Tahmasian A, Verdin Y, Butler SJ. In vivo human embryonic spinal cord atlas validates stem cell-derived human dorsal interneurons and reveals ASD spinal signatures. bioRxiv;2025 (Dec 24)

Spinal cord injuries (SCI) result in the loss of motor and sensory function. We are working towards restoring sensation by developing directed differentiation protocols to generate dorsal spinal interneurons (dIs; dI1-dI6) from human embryonic stem cells (hESCs). Here, we present an improved method that produces human dIs via a neuromesodermal progenitor state, the physiological intermediate for spinal cord development. We show that retinoic acid (RA), bone morphogenetic protein 4 (BMP4) and growth differentiation factor (GDF) 11 direct dI identity, while GDF11 and extended time in culture promotes posterior spinal identities. Together, these protocols generate the full complement of dorsal subtypes along the entire anterior-posterior axis of the spinal cord. To benchmark in vitro -derived dIs, we constructed a single-cell RNA-Seq atlas of the human embryonic spinal cord and used it to show that hESC-derived dIs closely match their endogenous counterparts. The atlas also reveals that the dI4/dI5 populations dramatically expand in comparison with the other spinal lineages. Moreover, they have mechanosensory circuit signatures linked to autism spectrum disorder, implicating spinal circuits in autistic phenotypes.

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11. Hamdan S, Nguyen J, Abdoul H, Ollivier C, Treluyer JM, Courson F, Jungo S, Salmon B, Fron-Chabouis H, Smail-Faugeron V. Dog Therapy for Dental Care Among Autistic Children: A Randomized Trial. Pediatrics;2026 (Jan 9)

OBJECTIVE: We aimed to assess whether the presence of a therapy dog during 2 dental care sessions could facilitate subsequent dog-free dental care for anxious autistic children who had difficulty cooperating. METHODS: We conducted a parallel-arm randomized trial: control group using usual behavioral strategies only and experimental group using animal-assisted therapy (AAT) strategies combined with usual behavioral strategies. All patients had 3 dental care sessions. In the experimental group, the therapy dog was present during the first 2 dental sessions, and the third dental session was dog-free. The primary outcome was the mean overall anxiety during the dog-free third treatment session. Generalized estimating equations (GEEs) were also used to account for the correlation of repeated measures. RESULTS: A total of 49 patients were enrolled. The most frequently usual behavioral strategies were positive reinforcement (n = 31; 64%), hypnosis (n = 28; 58%), demystification (n = 26; 52%), and in vivo modeling (n = 25; 51%). AAT-specific strategies included imitating dog (n = 18; 69%), positive supportive reinforcement with dog incentives (n = 14; 54%), and distraction or therapeutic touch (n = 11; 42%). Mean anxiety scores were significantly lower in the experimental group during the third session (mean difference, -1.4; 95% CI, -2.43 to -0.37). GEE analysis showed a significant reduction in anxiety over time in the experimental group compared with controls (P = .0001; β = -1.03). CONCLUSION: Dog served mainly as an in vivo model and positive reinforcer. Our findings suggest that AAT could play a key role in helping children acclimate to dental procedures, and, consequently, ease the transition back to conventional, animal-free dental treatments.

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12. Helgesen I, Nordahl-Hansen A. Breaking with the Criteria; Selective Mutism and its Forbidden Connection with Autism. Res Child Adolesc Psychopathol;2026 (Jan 9);54(1):4.

Despite autism being defined as an exclusion criterion for selective mutism (SM) in the European diagnostic manual, many studies have revealed a significant overlap between these conditions (Keville et al., 2023; Muris & Ollendick, 2021; Sharkey & McNicholas, 2012; Suzuki et al., 2020). The purpose of this study was to examine selective mutism in Norway using data from the Norwegian Patient Register (NPR), with a specific focus on quantifying its co-occurrence with Autism Spectrum Disorder (ASD). We have identified a sample (n = 1,682), aged from 3 years to 18 years in Norway, who during the period from January 1, 2008, to April 30, 2023, have had at least one documented episode where the diagnosis of selective mutism was registered. Many individuals show a clear overlap between selective mutism and autism, at 11.7%. The Norwegian gender ratio in this SM group was 2.13 girls for every boy (M/F 1:2.13). The exclusion of autism as a co-occurring diagnosis with selective mutism in ICD-10/11 may lead to delayed or incorrect diagnoses, preventing early intervention and tailored support. This particularly affects children who experience both conditions but initially present with SM as the dominant clinical feature.

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13. Jin Y, Cao Y, Ma W, Li R, Li Y, Kang Y, Huang J, Epstein MP, Guo X, Lim J, Rivera N, Zhou Y, Wen Z, Allen EG, Jin P. Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome. Nat Commun;2026 (Jan 8)

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansions in the FMR1 gene. While CGG repeat toxicity is established, the precise molecular mechanisms driving neurodegeneration remain unclear. Here, we show that a multi-omics strategy combined with TWAS reveals brain-region-specific molecular signatures and striking gene dysregulation in inhibitory neurons. Using conditional mouse models, we demonstrate that selective expression of expanded CGG repeats in GABAergic neurons is sufficient to recapitulate key pathologic hallmarks of FXTAS. We identify PRKCG as a genetic modifier of FXTAS, with cross-species evidence linking its overexpression to disease onset. Many dysregulated mRNAs in GABAergic neurons are targets of hnRNPA2/B1, an RNA-binding protein sequestered by CGG repeat RNA. Functional screening in Drosophila further establishes PRKCG as a potent modulator of CGG-associated neurotoxicity. These findings uncover a critical role of GABAergic neurons in FXTAS pathogenesis and position PRKCG as a promising therapeutic target.

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14. Li H, Li X, Wang X, Lin L, Cao M, Pan S, Ou X, Gu T, Shen S, Li H, Jing J. Multiomics analysis reveals the exacerbating effect of constipation on autism-related symptoms in children with autism spectrum disorder. NPJ Biofilms Microbiomes;2026 (Jan 8)

This study investigated the relationship between constipation and autism-related symptoms in children with autism spectrum disorder (ASD). Participants were assessed for gastrointestinal (GI) and autism-related symptoms and classified into constipated and non-constipated groups. The relationship was further explored via 16S rRNA sequencing and non-targeted metabolomics to identify underlying mechanisms. Results revealed that constipated ASD children exhibited more severe autism-related symptoms and alterations in four bacterial taxa-the phylum Bacteroidetes, the family Barnesiellaceae, and the genera Alistipes and Bilophila-plus 451 metabolites compared to non-constipated ASD children. Among the altered bacterial taxa, three-Bacteroidetes, Alistipes, and Bilophila-exacerbated the relationship between constipation and autism-related symptoms. Five metabolites derived from the above three taxa-chenodeoxycholic acid, palmitic acid, glutaric acid, arachidonic acid, and choline-were significantly associated with autism-related symptoms. Our multi-omics analysis reveals the exacerbating effect of constipation on autism-related symptoms in children with ASD.

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15. Mazefsky CA, Bradley M, Duman K, Beck KB, Conner CM, Powell N, Siegle GJ, Jones S, Trabert C, Tonarely-Busto N, Shaw AM, de Abril Cameron F, Kolko DJ, Kang C, Ehrenreich-May J, Farchione TJ, White SW. Study protocol for a comparative effectiveness randomized controlled trial comparing the emotion awareness and skills enhancement program to the unified protocol in autistic youth and young adults with emotion dysregulation. BMC Psychol;2026 (Jan 9)

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16. McCann LJ, Bakhti R, Fonseka N, Nicholls D, Hargreaves DS, Amati F, Lazzarino AI, Mitra R, Narayan K, Weston A, Gnani S. Narrative systematic review for autism spectrum disorders screening tools in school settings. BMJ Open;2026 (Jan 8);16(1):e105317.

OBJECTIVES: Early screening for autism spectrum disorder (ASD) can enhance educational and health outcomes for affected children. This narrative systematic review explores school-based screening tools used around the world to identify children with ASD and explore the differences across socio-demographic groups. DESIGN: Systematic review of electronic databases (EMBASE, MEDLINE, PsycINFO, Cochrane and Scopus) in October 2024 of papers published between 2011 and 2024. SETTING: Mainstream school-based settings globally. PARTICIPANTS: Children aged 4-16 years old attending mainstream school. INTERVENTIONS: School-based screening tools for ASD, including all types of informant and format of tools reported in eligible studies. PRIMARY AND SECONDARY OUTCOME MEASURES: Primary outcomes included prevalence of screen positives, sensitivity and specificity of the screening tools. Secondary outcomes included participants’ sex, socioeconomic status and ethnicity, and the relation of this to the primary outcomes. RESULTS: Of 7765 eligible articles, 14 studies were included in this review. We identified eight different school-based ASD screening tools. Study populations ranged from 103 to 16 556 children, with sensitivity and specificity varying by screening tool used, age group, setting and ASD prevalence. The percentage of children screening positive for ASD ranged from 0.7% to 8.5%. Studies were conducted in Europe (n=6), Western Pacific (n=4), the Americas (n=3) and Eastern Mediterranean (n=1) regions. No studies explicitly explored accuracy or validity outcomes based on ethnicity or socioeconomic status. Half of the 14 studies (n=7) reported the sensitivity and specificity of the screening tools; sensitivity ranged from 58% to 94% and specificity from 61% to 100%. There was insufficient evidence to recommend any single ASD screening tool. CONCLUSIONS: ASD screening tools vary widely across the globe, with limited standardisation. Evidence is lacking on how ethnicity and socioeconomic status affect their effectiveness in schools. Given the dearth of scientific evidence in this field, collaboration among educators, researchers and policymakers is needed to establish the evidence base for universal screening, identify optimal tools, coordinate their use and ensure their validation for specific populations.

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17. Morrison DE, Ponzini MD, Santos ER, Biag HMB, Espinal G, Tassone F, Rivera SM, Hessl D, Schneider A, Bourgeois JA, Hagerman R, Kim K. Progression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference. Brain Commun;2026;8(1):fcaf483.

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by the premutation (55-200 CGG repeats) in the fragile X messenger ribonucleoprotein-1 (FMR1) gene. An open question is: In what sequential order do FXTAS symptoms typically appear, and how does that sequence vary among patients and between males and females? We applied the ordinal-outcomes version of the Subtype and Stage Inference algorithm (‘Ordinal SuStaIn’) to identify the sequential events of clinical and brain MRI changes in cross-sectional data collected during baseline visits from a longitudinal cohort of FXTAS patients at Stages 0-5. We included 28 neurodegenerative symptoms collected from 253 premutation carriers (101 females and 152 males) and 44 controls (7 females and 37 males), aged 40-86 years old at entry, who participated in two longitudinal studies, with entry dates between 2008 and 2023. We found substantial differences in order of events depending on sex, and possibly in combination of sex and CGG repeats. The main finding is the predominance of the psychiatric co-morbidities that occur early in females (often before the onset of tremor and ataxia) compared to males. These findings suggest that the sequence of neuropsychiatric symptoms for FXTAS is different in females compared to males, particularly for early symptoms in disease development and progression. This could lead to sex-specific modifications of the FXTAS diagnostic stages.

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18. Neul JL, Benke TA, Marsh ED, Peters SU, Fu C, Merritt JK, Percy AK. Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome. Res Sq;2025 (Dec 15)

Background To characterize frequency, timing, and trajectory of gain, loss, and regain of developmental skills in Classic Rett syndrome (RTT). Methods The frequency and timing of gain, loss, and regain of 51 developmental skills from 1228 females with Classic RTT and a pathogenic loss-of-function variant in MECP2 was assessed during in-person visits from participants enrolled in the US Natural History Study. The percentage of participants experiencing gain, loss, or regain events, mean and median age of event and time to event with confidence intervals, and the cumulative incidence curves were calculated and compared to normative data using SPSS v29.0.2.0. One-year incidence of either gain or regain of each skill from 0-20 years old and one-year incidence of either gain or regain of any of 51 developmental skills was calculated. Results The acquisition of skills was greatest for lower-level skills and conversely lowest for more advanced skills. Acquisition of skills peaked at 6 years. Skill loss occurred mainly within 2 years of acquisition. Loss of fine motor, communication, and social adaptive skills changed little after age 6 years. The regain of lost skills involved less than 30% of fine motor, communication, and social adaptation. Regain of skills generally ceased by age 6 years. Conclusion These results provide critical endpoints essential for conducting clinical trials in RTT. The lack of acquisition of skills beyond age 6 years and absence of loss or regain of previously lost skills, aside from gross motor features, beyond 6 years suggest that functional gains in these realms would represent important indicators of efficacy.

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19. Noda S, Murakami T, Hashimoto K, Kamioka N, Ohno Y, Ikari Y. Folding atrial septal aneurysm to close multi-fenestrated ASDs and a PFO with a single device. Cardiovasc Interv Ther;2026 (Jan 8)

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20. Rangaraj S, Sundar S, Alagesan K, Anbazhagan R, Prasitha P, Samayan K. Early Life Screen Exposure Characteristics and Risk of Autism Spectrum Disorder – A Multivariable Analysis in a Case-Control Study. Indian J Pediatr;2026 (Jan 9)

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21. Rashaid AHB, Al-Rabi YI, Nusair SD, Bashtawi MA. A pilot study of amino acid profiles in boys with autism spectrum disorder and their mothers. Nutr Neurosci;2026 (Jan 8):1-20.

Autism Spectrum Disorder (ASD) has been linked to metabolic disturbances in prior research. This pilot study explored plasma and urinary amino acid profiles in a cohort of Jordanian boys with ASD (n = 17) and their mothers, comparing them to neurotypical controls (n = 17). Amino acid concentrations were quantified using Amino Acid Analyzer system, which integrates: High-performance liquid chromatography (HPLC); cation exchange chromatography for separation; and post-column ninhydrin derivatization, l. Our analysis revealed preliminary correlations, including a significant association between urinary arginine levels in children with ASD and their mothers (r = 0.52, p = 0.031). Furthermore, distinct amino acid patterns were observed across ASD severity levels. When evaluating individual amino acids as biomarkers, several showed fair diagnostic accuracy (AUC 0.7-0.8) in internally cross-validated ROC analyses. The observed patterns suggest a complex interplay of genetic factors e.g. Potential inheritance of metabolic enzyme variants, environmental influences (e.g. Shared dietary habits or toxin exposures, and physiological adaptations). These findings suggest that amino acid dysregulation may be involved in ASD and warrant further investigation. However, the small sample size necessitates caution, and these results should be validated in larger, more diverse cohorts to assess their generalizability and potential clinical relevance.

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22. Rast JE, Wright J, Voltaire S, Garfield T, Roux AM. Mental health hospitalization and readmission in autistic adults in a national U.S. sample. Res Autism;2025 (Jun);124

OBJECTIVE: The objectives of this study were to, 1) estimate U.S. national rates of mental health hospitalization (MHH) and all-cause readmission, and 2) explore characteristics associated with readmissions for autistic and non-autistic adults. METHODS: This study used the National Readmission Database (NRD) 2019 to examine 30-day all-cause readmissions following MHH in adults with autism, intellectual disability, ADHD, and mental health conditions. Analysis estimated rates of MHH by group, rates and odds of readmission, and factors associated with readmission. RESULTS: More than one-third (36 %) of all admissions for autistic adults in 2019 were MHH, with schizophrenia the most common reason. Of all MHH index events in autistic adults, 17 % had a 30-day all-cause readmission. Readmissions were more common in autistic adults with ID (25 %) than in autistic adults without ID (15 %). Readmission was also slightly more common in female autistic adults (20 %) than male autistic adults (16 %), and autistic females had greater odds of readmission (OR 1.30, 95 % CI 1.09, 1.55) than autistic males, which was not true in non-autistic adults. Initial admission for schizophrenia was associated with increased odds of readmission for all groups (OR 1.37, 95 % CI 1.32, 1.42). CONCLUSIONS: The complexity of mental health conditions and their care in autistic adults underscores the urgent need for accessible and tailored mental health care services. Addressing these challenges will require collaborative efforts across healthcare sectors to create comprehensive, inclusive, and person-centered approaches to mental health care delivery for autistic adults across often disjointed service sectors.

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23. Rattaz C, Peries M, Pickles A, Baghdadli A. The Impact of Inclusive Education Practices on Students With ASD’S Outcomes: Report From the ELENA French Cohort Study. Autism Res;2026 (Jan 8)

Inclusive education is largely promoted in the field of autism spectrum disorders (ASD), but scientific and empiric studies about the impact of school inclusion on the children’s outcome are lacking. We studied the effect of the type of inclusion (regular classroom vs. special education classroom) in a sample of 356 children with ASD over a three-years period. Results first showed that, when comparing both groups at baseline, children in special education classes were older, had a higher level of challenging behaviors and came from lower socioeconomic status families. Once matched through propensity score, children in special classrooms had significantly lower communication and daily living skills than children in ordinary classrooms after 3 years, whereas there was no significant difference in socialization skills and in IQ. Overall, placement in a regular education classroom was positive for most children, however there is a high inter-individual variability and it is very unlikely that inclusive settings are by default superior for all children with special needs. These results, emphasizing the crucial role of the mainstream milieu, cannot be considered definitive and further studies are needed to address this critical educational policy issue. Trial Registration: ClinicalTrials.gov identifier: NCT02625116. While inclusive education is largely promoted, little is known about the impact of school inclusion on the children’s outcome. This study explored the outcome of children as a function of the type of inclusion (regular vs. special education classroom) over a 3‐year period. We found that children in ordinary classroom had higher communication and daily living skills after 3 years than children in special education classes. However, there were important differences from one child to another, and we cannot conclude that inclusive settings are by default superior for all children with special needs. An important issue is thus to have a panel of different inclusion modalities, and to choose the one that is the most appropriate for one child as a function of his profile. eng

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24. Robeson M, Chassin V, Albright J, Lewis C, Baxter A, Zlomke K. Investigating the effectiveness of PEERS©-campus: The impact of a social skills group for young adults with autism adapted for a college campus. Res Dev Disabil;2026 (Jan 7);169:105203.

BACKGROUND: The Program for the Education and Enrichment of Relationship Skills (PEERS©) for Young Adults (PEERS-YA) is an evidence-based, group intervention for fostering social skills in young adults, though it may consist of elements that are not as suitable for autistic individuals in post-secondary educational settings. This study examined preliminary outcomes of an adapted PEERS-YA intervention for autistic college students. METHOD: A quasi-experimental design was utilized in which autistic college students (n = 6) and non-autistic social partners (n = 5) participated in the adapted PEERS-YA intervention. Wilcoxon Signed Rank Tests were used to assess statistically significant changes in social responsiveness, empathic and social self-efficacy, social skills knowledge, college belongingness, quality of life, loneliness, quality of socialization, and social anxiety at three time points. Reliable change indices (RCIs) were calculated to examine clinically significant effects. RESULTS: There were significant changes found in autistic participants’ self-rated social reciprocity. Further, social skills knowledge increased for both autistic participants and social partners. RCIs demonstrated that two autistic participants experienced meaningful improvements in social skills knowledge, social responsiveness, and/or quality of socialization, and one showed meaningful improvement in empathic/social self-efficacy, social anxiety, and/or quality of life. Changes were relatively stable from post-intervention to follow up. CONCLUSIONS: Findings demonstrate promising results toward the adapted PEERS-YA intervention as a feasible option for teaching social skills, improving empathic self-efficacy, and increasing social responsiveness amongst autistic undergraduates, with mixed findings regarding benefits to social partners.

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25. Rodrigo PG, Mara PG, Beatriz GV, Gisselle LV, Cecilia GM, Rubén CL, Luis TH, Yazmín RC. Altered structural plasticity mediated by mGlu and NMDA receptors and impaired cognition in a genetic ASD model (Shank3(+/-) mice). J Neurosci;2026 (Jan 9)

Dendritic spine morphology is strongly associated with neurodevelopmental disorders. Synaptic plasticity alters spine volume, a phenomenon known as structural plasticity, which influences information processing within neuronal circuits. Structural changes at dendritic spines are linked to autism spectrum disorders (ASD), particularly those involving gene mutations that result in synaptopathy. Loss of a single copy of the Shank3 gene leads to Phelan-McDermid syndrome, a synaptopathy, as Shank3 encodes SHANK3, a scaffold protein in the postsynaptic density of glutamatergic neurons. In this study, the structural plasticity of dendritic spines was evaluated in male and female Shank3(+/-) and wild-type (WT) mice in response to synaptic plasticity. Two-photon imaging and glutamate uncaging were employed in organotypic hippocampal cultures. Cognitive function in adult Shank3(+/-) mice was also assessed using a novel object recognition test. The results indicate that Shank3(+/-) mice exhibit altered structural plasticity in response to long-term depression (LTD) and display a heterosynaptic response in neighboring spines. Increased GluN2B expression and NMDA currents underlie these effects and may influence object recognition memory in Shank3(+/-) mice. These findings suggest that Shank3 haploinsufficiency induces synaptic alterations during postnatal development that impact memory in adulthood.Significance statement Alterations in the morphology and density of dendritic spines, which are the sites of approximately 90% of synapses, have been associated with neurodevelopmental disorders such as autism spectrum disorder (ASD). Although these associations have been established, it is unclear how dendritic spine structural changes affect synaptic responses and cognitive function in ASD. This study uses a genetic mouse model of ASD (Shank3 heterozygous mice with a deletion of exons 4-9) to investigate synaptic responses and their structural correlates. The aim is to elucidate the neurobiology of ASD and determine how these modifications may affect memory in adulthood.

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26. Russell ISB, Perreault ML. Bacterial immunomodulatory structures as determinants of the maternal immune response and autism risk. Cytokine Growth Factor Rev;2026 (Jan 2);87:128-139.

Autism is a group of neurodevelopmental conditions that have shown increasing prevalence over the last several decades. Despite being largely idiopathic in origin, numerous genetic and environmental risk factors have been identified. One of the leading environmental risk factors for autism is maternal immune activation (MIA) following infection. The impact of bacterial infection on MIA and neurodevelopmental outcomes has been widely studied though the specific causal underpinnings that directly influence autism risk remains elusive. In preclinical research, bacterial-derived lipopolysaccharide (LPS) is most often used to model bacterial infection and drive immune responses and autism-like outcomes. However, pathogenic structural determinants of the specific MIA response are rarely considered. Male and female fetuses also have distinct immune responses to MIA, which have been linked to sex-specific alterations in mitochondrial dysfunction and placental barrier disruption resulting in distinct behavioural characteristics. This review will discuss the known clinical and preclinical research on the impact of infection on MIA and neurodevelopmental outcomes, emphasizing the key role of bacterial structural factors. Here, we put forth that it is not only the severity, timing, and physical location of a bacterial infection that is important. Rather it is more nuanced, involving variations in key pathogenic immunostimulatory structures that, in turn, lead to a diversity of immune response phenotypes in both the mother and offspring, and distinct alterations in placental barrier integrity.

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27. Samadi SA, Boghrabadi GA, Nori SH, Mahmoodizadeh A, Foladgar M, Moradi SB, Lotfi B. Validating the Brief Autism Mealtime Behavior Inventory (BAMBI) in Persian and Kurdish for Use in Iran and the Kurdistan Region of Iraq. J Autism Dev Disord;2026 (Jan 9)

PURPOSE: Eating problems are prevalent among children with Autism. Early identification is crucial for intervention. This study aimed to validate the Brief Autism Mealtime Behavior Inventory (BAMBI) for use in Iran and the Kurdistan Region of Iraq (KRI). METHODS: The study involved a sample of 873 children, including 540 with autism and 333 neurotypically developing children, with a mean age of 7.09 years. The translation process followed a rigorous methodology, including obtaining official permission, translation, back-translation, and pilot testing to ensure cultural relevance and accuracy. RESULTS: The BAMBI, a mealtime behavior scale, showed strong internal consistency (α = 0.832) and a stable three-factor structure in 873 children (540 autistic, 333 neurotypical) aged 2-14 in Iran and the KRI. The BAMBI demonstrated good discriminant and convergent validity, correlating strongly with autism diagnostic measures. CONCLUSION: The BAMBI questionnaire has been successfully translated and validated for both Persian and Kurdish languages, enabling the evaluation of mealtime behaviors in clinical settings in Iran and the Kurdistan Region of Iraq.

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28. Shah R, Hargreaves D. Autism, paracetamol and folic acid: the perils of health misinformation. Arch Dis Child;2026 (Jan 8)

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29. Shan S, Swaminathan K, Vivek K, Haridoss S. Developmental Disturbances of Teeth in Children with Autism Spectrum Disorder and Attention-deficit Hyperactivity Disorder: A Cross-sectional Study. Int J Clin Pediatr Dent;2025 (Nov);18(Suppl 1):S80-s85.

PURPOSE: Developmental disturbances of teeth in children with neurodevelopmental disorders like autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) can significantly impact their oral health. Children with these disorders show behavior and cognitive impairment. Both the disorders are associated with environmental, genetic, and systemic factors that can impact odontogenesis. Although dental anomalies have been reported in children with neurodevelopmental disorders, the frequency and distribution of these disturbances remain insufficiently studied in children with ASD and ADHD, especially in comparison to their neurotypical peers. The study aims to determine and compare the frequency and distribution of developmental dental disturbances in children with ASD and ADHD and neurotypical children. MATERIALS AND METHODS: A total of 673 children in Chennai, aged 3-13, were included in this cross-sectional study. Demographic data and oral examinations were recorded after obtaining informed consent. Statistical analysis included Chi-squared test. A p -value of ≤0.05 was considered statistically significant. RESULTS: Children with ASD and ADHD had a significantly higher prevalence of developmental disturbances of teeth (51.6%) compared to controls (22.6%). Anomalies such as hypodontia, peg-shaped laterals, talon’s cusp, and enamel hypoplasia had higher prevalence in the case group than in the control group. CONCLUSION: Developmental dental abnormalities are more prevalent in children with ASD and ADHD than in neurotypical peers. These findings emphasize the need for early dental screening and interdisciplinary management to address systemic, genetic, and environmental factors influencing odontogenesis. HOW TO CITE THIS ARTICLE: Shan S, Swaminathan K, Vivek K, et al. Developmental Disturbances of Teeth in Children with Autism Spectrum Disorder and Attention-deficit Hyperactivity Disorder: A Cross-sectional Study. Int J Clin Pediatr Dent 2025;18(S-1):S80-S85.

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30. Vacca F, Yalcin B, Kaestner L, Danek A, Peikert K, Walker RH, Ansar M. Proceedings of the 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders. Tremor Other Hyperkinet Mov (N Y);2026;16:3.

The 12(th) International Meeting on Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related Disorders was held on September 12(th)-14(th), 2025, at the Jules Gonin Eye Hospital in Lausanne, Switzerland. This long-standing series of international symposia has traditionally focused on neuroacanthocytosis syndromes and associated disorders. The program further broadened its scope to include Cohen syndrome, reflecting the growing recognition of shared molecular features and common unsolved questions across VPS13-related disorders. The aim of the meeting was to present the latest updates in the field, from both clinical and basic science perspectives, and to facilitate collaboration and exchange of ideas among researchers, clinicians, and the patient community. An important aspect of these meetings is the active involvement of patients, their relatives and caregivers, who were invited to attend scientific sessions, in addition to participating in parallel patient-oriented sessions. A total of 20 oral communications were presented in eight scientific sessions accompanied by two keynote lectures, short talks by selected poster presenters, and the 2025 « Glenn Irvine Prize » award lecture.

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31. Veseli A, Kosumi S, Krasniqi B, Mrasori S, Veseli E, Gjocaj M, Veseli K. THE EFFICACY OF SENSORY-ADAPTED DENTAL INTERVENTIONS FOR CHILDREN WITH DEVELOPMENTAL DISABILITIES AND SENSORY SENSITIVITIES. Georgian Med News;2025 (Nov)(368):196-200.

BACKGROUND: Children diagnosed with autism spectrum disorder (ASD) are often more sensitive to environmental stimuli, particularly light, sound, and touch, which can provoke significant anxiety and behavioral resistance during dental visits, thereby contributing to poor oral health. OBJECTIVE: To assess the efficacy of sensory adapted dental environments (SADEs) and related interventions to reduce dental anxiety by improving behavioral cooperation of children with ASD based on peer-reviewed evidence. METHODS: English language studies published between January 2010 and June 2025 were retrieved from the PubMed, ScienceDirect, and Google Scholar databases using the keywords « autism spectrum disorder, » « sensory adapted dental environment, » « multisensory, » « dental anxiety, » and « occupational therapy. » Reports were limited to randomized controlled trials, quasi experimental studies, observational research, and systematic reviews involving children with ASD or other developmental disabilities. Data were assessed qualitatively. RESULTS: Evidence indicates that SADEs consistently reduced physiological and behavioral signs of dental anxiety. A large crossover trial involving 162 autistic children reported that visual, auditory, and tactile adaptations significantly reduced stress during dental cleanings. Modifications (dimmed lighting, nature sounds, slow motion projections, and deep pressure wraps) were effective. A 2024 study involving neurotypical children found improved behavior and reduced anxiety in the SADE group, along with lower heart rates and higher oxygen saturation. A randomized trial of children with Down syndrome demonstrated that a multisensory waiting room significantly reduced heart rate and anxiety scores. While the primary focus was ASD, some comparative studies involving neurotypical children and children with Down syndrome were reviewed due to their relevance to sensory-processing mechanisms Meta-analyses of five studies found that SADEs significantly lowered psychophysiological markers of anxiety Conclusion: Current evidence supports the efficacy of SADEs to reduce anxiety and enhance cooperation of children with ASD. These interventions are cost-effective, feasible, and easily tailored to individual sensory profiles. Future research is recommended to examine long-term outcomes, implementation in community settings, and integration with behavioral approaches.

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32. Williams EG, Sivathasan S, Anthony N, Eack SM, Mazefsky CA. Racial disparities in depression and mental health service use among black and white autistic adults. Sci Rep;2026 (Jan 8)

Studies have reported that autistic individuals are diagnosed with major depressive disorder (depression) at rates significantly higher than their non-autistic peers. While studies have shown that Black autistic individuals may be particularly vulnerable to experiencing depression, few studies have examined rates of lifetime depression diagnosis and symptom burden within this population in comparison to other racial groups, in particular White autistic individuals. This study addresses this gap by comparing demographic differences and mental health diagnosis, symptoms, and service use for Black and White autistic adults with and without a lifetime depression diagnosis, offering insights to guide future research and clinical practice to address the mental health needs of autistic individuals. Data were drawn from the Relationships, Employment, Autonomy, and Life Satisfaction (REALS) study, which includes self-reported history of mental health diagnoses, as well as measures of current anxiety and depression symptoms. Bivariate analyses were conducted to examine demographic, mental health service use, and clinical differences among an age- and income-matched sample of Black and White autistic participants, stratified by whether they had received a depression diagnosis in their lifetime (past and/or current). The study included 179 autistic adults (93 Black, 86 White). Black autistic adults with a lifetime depression diagnosis had higher income, education, and employment rates than those without a lifetime depression diagnosis. White participants showed no such differences. Further, Black participants reported similarly high current depression symptoms and anxiety, regardless of whether they had a depression diagnosis or not. That is, Black autistic adults without a lifetime depression diagnosis report experiencing comparable levels of current depressive symptoms as those with a lifetime depression diagnosis, which for both groups fall near clinical cutoffs. Findings underscore the need for more nuanced mental health services that address the complex needs of autistic adults, particularly Black individuals who remain underrepresented in autism research. The similarly high anxiety and depression symptom levels across Black autistic adults with and without a lifetime depression diagnosis suggest that those with depression and who have access to mental health services may not find that such services fully address ongoing distress. The elevated rates of co-occurring mental health conditions among those with a history of depression point to the importance of integrated, intersectional approaches to care that consider both racial identity and neurodivergence.

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33. Wong WHS, Chen C, Tso A, So HK, Wong JPY, Tinsley H, Chung CHY, Luk RKW, Ip P. Dog-assisted therapy on Hong Kong children with autism spectrum disorder: an exploratory randomized controlled trial. Eur J Pediatr;2026 (Jan 9);185(1):64.

Dog-assisted therapy (DAT) has become a promising complementary approach, providing social and emotional support for children with autism spectrum disorder (ASD). Research on the effects of DAT on multiple functions in children with ASD is limited, and the results are inconsistent. Our study aimed to evaluate the effect of DAT with an RCT study on both psychosocial problems and overall well-being in children with ASD in Hong Kong. An exploratory randomized controlled trial was conducted from February 2023 to November 2024, involving 64 children with ASD aged 6 to 15 years. Participants were randomly assigned (1:1 ratio) to DAT group and control group. The DAT group participated in a structured 8-session DAT training program while the control group received a conventional education curriculum. Before and after the intervention, the Paediatric Quality of Life Inventory scale and Strengths and Difficulties Questionnaire were used to evaluate children’s quality of life and psychosocial problems, respectively. The paired t-test and independent t-test/Mann-Whitney U test were employed to analyze pre-post differences and group differences. In the DAT group, the mean total score of quality of life was significantly improved (pre vs. post: 58.32 vs. 63.71, P = 0.007) and the mean score of total difficulties was significantly reduced (pre vs. post: 15.63 vs. 13.16, P = 0.003). The decreased scores of several subscales of SDQ, such as externalizing behavior, conduct problems, and hyperactivity were also observed (all P < 0.05). The control group with conventional curriculum training also presented with a lowered mean total difficulties score (pre vs. post: 16.47 vs. 15.03, P = 0.035). There were no statistically significant change differences between the two groups (P > 0.05). CONCLUSION: The preliminary finding shows DAT has a comparable effect to the school’s educational curriculum in improving the psychosocial health and quality of life of children with ASD. DAT could potentially serve as a beneficial supplemental therapy for children with ASD who receive conventional curriculum training. TRIAL REGISTRATION: The trial was registered on https://www. CLINICALTRIALS: gov (NCT06609122) on 25 Sep 2024. WHAT IS KNOWN: • Animal-assisted intervention (AAI) has emerged as a promising adjunct, offering social and emotional support for children with ASD. • Evidence on the impact of dog-assisted therapy (DAT) on important outcomes (e.g., emotional and behavioral problems, quality of life) were not fully explored. WHAT IS NEW: • DAT demonstrates a similar impact to the school’s educational curriculum in enhancing the psychosocial well-being and quality of life of children with ASD. • Most cases in pediatric outbreaks occurred among healthcare workers pointing to the need to protect HCW from infections and a limited role of pediatric patients and caregivers.

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