1. Baldwin AG, Foley DW, Collins R, Lee H, Jones DH, Wahab B, Waters L, Pedder J, Paine M, Feng GJ, Privitera L, Ashall-Kelly A, Thomas C, Gillespie JA, Schino L, Belelli D, Rocha C, Maussion G, Krahn AI, Durcan TM, Elkins JM, Lambert JJ, Atack JR, Ward SE. Discovery of MDI-114215: A Potent and Selective LIMK Inhibitor To Treat Fragile X Syndrome. J Med Chem;2025 (Jan 9);68(1):719-752.

LIMKs are serine/threonine and tyrosine kinases responsible for controlling cytoskeletal dynamics as key regulators of actin stability, ensuring synaptic health through normal synaptic bouton structure and function. However, LIMK1 overactivation results in abnormal dendritic synaptic development that characterizes the pathogenesis of Fragile X Syndrome (FXS). As a result, the development of LIMK inhibitors represents an emerging disease-modifying therapeutic approach for FXS. We report the discovery of MDI-114215 (85), a novel, potent allosteric dual-LIMK1/2 inhibitor that demonstrates exquisite kinome selectivity. 85 reduces phospho-cofilin in mouse brain slices and rescues impaired hippocampal long-term potentiation in brain slices from FXS mice. We also show that LIMK inhibitors are effective in reducing phospho-cofilin levels in iPSC neurons derived from FXS patients, demonstrating 85 to be a potential therapeutic candidate for FXS that could have broad application to neurological disorders or cancers caused by LIMK1/2 overactivation and actin instability.

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2. Biggs K, Ouellette-Kuntz H, Griffiths R, Hansford R, Hallet J, Kelly C, Decker K, Dawe DE, Shooshtari S, Brownell M, Turner D, Cobigo V, Mahar A. Frequency of Missing TNM Stage Data for Adults With Intellectual or Developmental Disabilities in a Provincial Cancer Registry-A Brief Report. Cancer Med;2025 (Jan);14(1):e70579.

BACKGROUND: Adults with intellectual or developmental disability (IDD) are at higher risk for incomplete cancer staging. AIM: To compare unknown stage data between those with and without IDD. MATERIALS AND METHODS: We used the Ontario Cancer Registry linked to administrative health data between 2007 and 2019. RESULTS: Adults with IDD diagnosed with breast, colorectal, and lung cancer were 1.94 (95% CI 1.52-2.47), 1.90 (95% CI 1.63-2.21), and 2.17 (95% CI 1.86-2.54) times more likely to have unknown cancer stage at diagnosis, relative to those without IDD. DISCUSSION: The absence of stage data has person-level and population-level implications. At the individual level, if stage data are not simply missing from the registry but reflect incomplete or absent diagnostic or staging procedures, this may represent barriers for adults with IDD in receiving curative treatment. At the population level, research using inaccurate or incomplete stage data may lead to unrepresentative health and social system policy decisions. CONCLUSION: A better understanding of the cancer diagnostic interval for adults with IDD is needed to develop interventions.

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3. Capisizu A, Sandu C, Caragea RM, Capisizu AS. A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy. J Med Life;2024 (Nov);17(11):1023-1029.

The MACF1 gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the MACF1 gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with MACF1 mutations remains limited. We present the case of a 7-year-old girl, a long-term patient at the Pediatric Neurology Clinic of Dr. Alexandru Obregia Hospital in Bucharest, followed since the age of 3. She initially presented with epilepsy characterized by generalized seizures, clinically resembling both spasms and myoclonus. Over time, she exhibited features of a pervasive developmental disorder and moderate cognitive delay. Genetic testing identified a missense point mutation in the MACF1 gene, c.16223C > T, p.(Pro504Leu). Her final diagnosis was epilepsy with generalized seizures of non-lesional origin, moderate cognitive impairment, pervasive developmental disorder, and a confirmed point mutation in the MACF1 gene. This case underscores the importance of incorporating genetic testing into the diagnostic process for patients with autism spectrum disorder and epilepsy.

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4. Chen YJ, Sideris J, Watson LR, Crais ER, Baranek GT. Measurement Invariance of the First Years Inventory (FYIv3.1) Across Age and Sex for Early Detection of Autism in a Community Sample of Infants. Assessment;2025 (Jan 9):10731911241306360.

The use of parent-report screeners for early detection of autism is time- and cost-efficient in clinical settings but their utility may vary by respondent characteristics. This study aimed to examine the degree to which infants’ age and sex impacted parental reports of early behavioral signs of autism captured by the First Years Inventory Version 3.1 (FYIv3.1). The current sample included 6,454 caregivers of infants aged 6 to 16 months recruited through the North Carolina vital records. Using moderated nonlinear factor analysis for each of the seven FYIv3.1, we identified differential item functioning in small to medium effect sizes across 18 out of 69 items, with the majority of biases associated with infants’ age (e.g., object mouthing, walking, pretend, and imitation), while sex-related biases were minimal. This indicates that differential scoring algorithms by infants’ age and more closely spaced monitoring may be needed for these constructs for more accurate identification of autism in infancy.

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5. Chikezie-Darron O, Sakai J, Tolson D. Analysis of Disparities in Diagnosis of Autism Spectrum Disorder in the Military Health System Pediatrics Population. J Autism Dev Disord;2025 (Jan 9)

There have been disparities reported in prevalence of autism by gender, race, and socioeconomic status with older ages of diagnosis in non-White and in female children. Possible disparities in the ages of autism diagnosis are not well-established within the Military Health System (MHS) pediatric population, where we hypothesized less disparities given universal Tricare coverage for active-duty military families and theoretically equal access to the military treatment facility (MTF). We conducted retrospective cross-sectional analysis using deidentified database repository records from the MHS. We collected and analyzed demographic data on children covered by Tricare and newly diagnosed with autism within an MTF (N = 31,355) or outside of the MTF (5,579 respectively). Within the MTF, we identified younger ages of autism diagnosis in non-White children less than 18 years old (p < 2.2e(-16)), without significant differences in ages of diagnosis by race in children less than 6 years of age. There were no statistically significant differences in ages of diagnosis between males and females. Outside the MTF, we identified younger ages of autism diagnosis in males versus females with statistically significant difference in average ages of autism diagnosis between males and females less than the age of 18 years (p = 4.4e-08). This difference was not seen in children less than 6 years of age. Racial data was not available for diagnosis outside the MTF. The age of autism diagnosis in the military pediatric population within the MTF did not reflect historical disparities seen in non-White and in female children.

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6. Falck-Ytter T. New Approaches to Eye-Tracking Analysis in Autism Research. Biol Psychiatry Cogn Neurosci Neuroimaging;2025 (Jan);10(1):3-4.

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7. He L, Zhu T, Cai W, Yang W, Chen Z, Li J. Posterior Ligamentum Complex Preservation Alleviate ASD-Related Biomechanical Deterioration in Lumbar Interbody Fusion Models: A Finite Element Analysis. JOR Spine;2025 (Mar);8(1):e70030.

BACKGROUND: There are differences in the extent of excision of articular processes, spinal processes and posterior ligamentum complexes (PLC) for posterior approach lumbar interbody fusion. Given that the biomechanical significance of these structures has been verified and that deterioration of the biomechanical environment is the main trigger for complications in both fused and adjacent motion segments, changes in decompression ranges may affect the potential risk of adjacent segmental disease (ASD) biomechanically; however, this topic has yet to be identified. METHODS: Posterior lumbar interbody fusion (PLIF) with different decompression strategies was simulated in a well-validated lumbosacral model. The excision and preservation of the cranial motion of the segmental PLC and the lateral articular process in the fusion segment were simulated in this model. The stress distribution in the cranial motion segment was computed under different loading conditions to determine the potential risk of ASD. RESULTS: Compared to complete bilateral articular process excision, preservation of the lateral two-thirds of the articular process did not alleviate stress concentration on the cranial motion segment both in PLC preserved and excised models. In contrast, preservation of the cranial segmental PLC can obviously alleviate the stress concentration tendency of the cranial intervertebral disc under flexion loading conditions. CONCLUSION: Preservation of the lateral parts of the articular process cannot optimize the biomechanical environment, in contrast, PLC preservation can effectively alleviate ASD related biomechanical deterioration of the cranium segment.

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8. Hosseini S, Ghadimi M, Reyhani N, Khazaei S, Rahmatkhah-Yazdi M, Soleimani-Farsani R, Vaseghi S. BDNF and GSK-3beta expression changes underlie the beneficial effects of crocin on behavioral alterations in a rat model of autism induced by prenatal valproic acid administration. Naunyn Schmiedebergs Arch Pharmacol;2025 (Jan 8)

Autism spectrum disorder (ASD) is a serious neurodevelopmental disorder characterized by impairments in social interaction, language, and communication and induction of stereotypic behavior. In rodents, prenatal administration of valproic acid (often on 12.5 gestational days) is used for the induction of an ASD-like model. In the present study, we aimed to assess the potential therapeutic effects of crocin (a major component of Saffron, a neuroprotective and anti-inflammatory agent) on behavioral dysfunctions with respect to the level of brain-derived neurotrophic factor (BDNF) and glycogen synthase kinase-3 beta (GSK-3beta) in the medial prefrontal cortex. Valproic acid was intraperitoneally injected at the dose of 600 mg/kg on 12.5 gestational days. BDNF and GSK-3beta expression levels were also measured using real-time PCR. Locomotion, anxiety-like behavior, grooming, and sniffing were also measured in the open-field test. The results showed that prenatal valproic acid administration induced hyperactivity, anxiety-like behavior, increased grooming and sniffing (stereotyped behavior), decreased BDNF levels, and increased GSK-3beta levels in the medial prefrontal cortex. However, crocin dose-dependently restored the effects of prenatal valproic acid administration on behavioral functions and gene expressions. In conclusion, we suggested that BDNF and GSK-3beta expression changes in the medial prefrontal cortex may underlie the pathophysiology of ASD. The therapeutic effects of crocin may be also related to counteracting BDNF and GSK-3beta expression changes induced by prenatal valproic acid.

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9. Kaddouri RE, Nijhof AD, Brass M, Wiersema JR. Intact Neural Responding to Hearing One’s Own Name in Children with Autism. J Autism Dev Disord;2025 (Jan 9)

Diminished responding to one’s own name is one of the strongest and earliest predictors of autism. However, research on the neural correlates of this response in autism is scarce. Here we investigate neural responses to hearing the own name in school-aged children with and without autism. Thirty-four children with autism and 33 without autism (ages 7-13) were presented with three categories of names (own name, close other’s name and unknown other name) as task-irrelevant deviant stimuli in an auditory oddball paradigm, while EEG was recorded. In line with previous findings, parietal P3 amplitudes for the own name were enhanced compared with a close other’s name. Older children showed a stronger self-specific effect than younger children. However, this self-preferential effect was not different between groups, despite the fact that parents of children with autism reported significantly less own-name responsiveness in daily life. Neither the N1 component or SON negativity showed self-specific effects. In school-aged children, only the parietal P3 component, and not the N1 or SON negativity, appears to be enhanced for the own name as compared to a close other’s name. Age seems to have an effect on the own name modulation of the P3 amplitude, which may explain the relatively small overall effect size. Against expectations, groups did not differ on this self-specific effect. Further research into neural and behavioral responses to hearing one’s own name in autism, across different age groups, is warranted.

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10. Kılıç B, Kültür S. Comparison of children and adolescents diagnosed with attention deficit hyperactivity disorder with and without autism traits in terms of emotion regulation, clinical characteristics and functionality. J Neuropsychol;2025 (Jan 8)

This study aims to demonstrate that children and adolescents diagnosed with Attention Deficit Hyperactivity Disorder (ADHD) who exhibit autism traits have a more severe clinical profile in terms of emotion regulation, clinical features related to ADHD, and functionality, compared to those diagnosed with ADHD without these traits. 50 patients with and 64 patients without autism traits between the ages of 8-16 were recruited for the study among the children and adolescents diagnosed with ADHD. The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version, DSM-5-2016-Turkish Adaptation (K-SADS-PL-DSM-5-T) was used to exclude the diagnosis of Autism Spectrum Disorder (ASD) and detect comorbid psychiatric diagnosis. The Social Reciprocity Scale (SRS) was completed by parents to determine groups based on autism traits. Children completed the Childhood Anxiety Sensitivity Index (CASI) and the Affective Reactivity Index (ARI). The Strengths and Difficulties Questionnaire (SDQ), Affective Reactivity Index-Parent Report (ARI-P) and Weiss Functional Impairment Rating Scale-Parent Report (WFIRS-P) were completed by the parents. We found that the group with autism traits had significantly more hyperactivity/inattention, conduct problems, emotional problems, and peer problems and significantly more irritability and frequent separation anxiety disorder. Although there was no significant impairment in functionality in either group, the level of impairment was significantly higher in the group with autism traits. Children diagnosed with Attention Deficit Hyperactivity Disorder who exhibit autism traits experience higher levels of irritability and separation anxiety disorder, as well as greater impairment in functionality, compared to those without these traits.

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11. Li W, Kong Q, Guo M, Wang L, Tian P, Lu J, Zhao J, Chen W, Wang G. Butyrylated modification of corn starch alleviates autism-like behaviors by modulating 5-hydroxytryptamine metabolism and gut-brain neural activity. Carbohydr Polym;2025 (Mar 1);351:123073.

This study was conducted to elucidate the effects of different degrees of substitution (DS) on the properties of propionylated and butyrylated starches and to investigate their efficacy and mechanisms in ameliorating autism-like phenotypes. Fourier transform infrared spectra of propionylated and butyrylated starches revealed the presence of the CO absorption peak at 1730 cm(-1). Additionally, as the DS increased, the surface of the starch granules became rougher, and the crystallinity decreased. Moreover, in vitro digestion tests demonstrated that propionylated and butyrylated starches with a DS of approximately 0.25 exhibited enhanced resistance to digestion. Animal experiments indicated that butyrylated starch significantly improved abnormal behaviors in autism-like rats and increased butyrate accumulation in the colon. Furthermore, butyrylated starch normalized aberrant expression of G protein-coupled receptor 41 and tryptophan hydroxylase 1 in the colon, promoting 5-hydroxytryptamine metabolism and suppressing the expression of ionized calcium binding adaptor molecule 1 and glial fibrillary acidic protein in the gut and brain. These findings demonstrate that butyrylated starch effectively alleviates autism-like phenotypes in rats, supporting strategies to mitigate autism and develop new applications for natural corn starch.

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12. Liu WX, Shan L, Li CL, Liu YM, Xue Y, OuYang YL, Jia FY. Effects of the Early Start Denver Model on emotional dysregulation and behavior problems in children with Autism spectrum disorder : Effects of the early start Denver model on emotional dysregulation and behavior problems in Chinese children with Autism spectrum disorder. BMC Pediatr;2025 (Jan 9);25(1):19.

BACKGROUND: Most previous studies have focused on the clinical efficacy after intervention of ESDM, particularly in core symptoms. However, only a few have paid attention to the effectiveness of ESDM on emotional dysregulation and behavior problems in children with ASD. This study aimed to explore the effect of the ESDM on addressing emotional dysregulation and behavior problems in children with ASD in China, as well as its correlation with core symptoms of ASD. METHODS: A total of 319 children aged 1.5 to 5 years were included in this study and received treatment based on the ESDM intervention program Baseline assessment (T0) was conducted before intervention, including Children Behavior Checklist (CBCL), Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). All children with ASD were examined in the assessment (T1) after 12 weeks of treatment. Emotional dysregulation and behavior problems in children with ASD were measured using CBCL, while ABC and CARS were used to evaluate the core symptoms. RESULTS: In the T1 assessment, the core symptoms of children with ASD in ABC and CARS showed significant differences. Subscale scores of ABC and the severity of CARS, including senses, relationships, stereotypes objects to use, self-help and social also exhibited significant differences. The children showed significant differences in both total score and subscale scores of CBCL(P < 0.05), which included emotionally/reactive, anxious/depressed, somatic complaints, withdrawal, sleep problems, attention problems, aggressive behavior, internalization and externalization. The children demonstrated significant differences in scores of CBCL-AAA (P < 0.05), taking into account the combined total of attention, aggression and anxious/depressed CBCL T scores. In addition, a consistent positive correlation was observed between the overall scores of CBCL and the core symptoms of children with ASD as indicated by ABC and CARS in both T0 and T1(P < 0.01). In T0, the CBCL-AAA scores were positively associated with the core symptoms of children with ASD as reflected by CARS(P < 0.01), as well as senses of ABC( P < 0.05). During T1, a noteworthy significant positive correlation was observed between the CBCL-AAA scores and the core symptoms of children with ASD as indicated by both ABC and CARS assessment (P < 0.05). CONCLUSIONS: Children with ASD benefit from ESDM, not only in terms of improving their core symptoms, but also in terms of improving their emotional dysregulation and behavior problems, and ESDM could be considered as one of the early treatment options for overall psychological promotion. The core symptoms of children with ASD are significantly associated with emotional dysregulation and behavior problems in young children, both cross-sectionally and prospectively for the short term over time. Emotional dysregulation and behavior problems represent an important comorbidity, and could be considered as potential treatment targets for treatment for improving emotional stability in ASD.

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13. Locke J, Sridhar A, Shih W, Shire S, Eisman AB, Kim E, Du A, Espeland C, Kasari C. Study protocol for a hybrid type 3 effectiveness-implementation trial of a team-based implementation strategy to support educators’ use of a social engagement intervention. Implement Sci;2025 (Jan 9);20(1):3.

BACKGROUND: Remaking Recess (RR) is a school-based evidence-based peer social engagement intervention for autistic students. RR involves direct training and coaching with educators; however, educators face several barriers to implementation at both the individual- and organizational-levels. This protocol paper describes a multi-site study that will test whether an educator-level implementation strategy, coaching, with or without a school-level implementation strategy, school-based teams, will maximize educators’ use (fidelity and sustainment) of RR for autistic students and their peers who are socially-isolated, rejected, or peripheral and may need additional support during recess. METHODS: This study will employ a hybrid type-3 effectiveness-implementation trial. Fifty-five elementary schools will be recruited as well as 121 educators (e.g., classroom assistants, aides), 55 general and special educator teachers, and 83-138 other school personnel (e.g., administrators). Additionally, at least 118 autistic students and allistic or non-autistic classmates will be recruited as RR recipients. Participants will complete baseline assessments at the beginning of the year, and all schools will be provided RR training. Schools will be randomized to coaching with or without school-based teams. This study will measure RR fidelity (primary outcome), RR sustainment, as well as peer engagement, social network inclusion, and social skills (secondary outcomes). It is expected that coaching with school-based teams will improve both RR fidelity and social network inclusion, while coaching with and without school-based teams will result in improved peer engagement and social skills. DISCUSSION: Previous research has documented barriers to RR implementation at both the individual- (provider) and organization-level (school). Using multi-level implementation strategies such as coaching with school-based teams may address these barriers and support RR implementation in schools. Findings from this study may guide future efforts to scale up tailored implementation strategies for use in public school districts, with the ultimate goal of increasing intervention access and improving student outcomes. TRIAL REGISTRATION: Name of the Registry: clinicaltrials.gov. TRIAL REGISTRATION: Clinical Trials ID: NCT06559267 . Date of Registration: August 15, 2024. Prospectively registered.

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14. Long EL, Catmur C, Bird G. The theory of mind hypothesis of autism: A critical evaluation of the status quo. Psychol Rev;2025 (Jan 9)

The theory of mind (ToM) hypothesis of autism is the idea that difficulties inferring the mental states of others may explain social communication difficulties in autism. In the present article, we critically evaluate existing theoretical accounts, concluding that none provides a sufficient explanation of ToM in autism. We then evaluate existing tests of ToM, identifying problems that limit the validity of the conclusions that may be drawn from them. Finally, as an example of how the identified issues may be resolved, we describe work developing a psychological account of ToM (the Mind-space framework) and a new test of ToM accuracy (the Interview Task). (PsycInfo Database Record (c) 2025 APA, all rights reserved).

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15. Lund SK, Quach W, Weissling K, McKelvey M. Augmentative and Alternative Communication Assessment for Children on the Autism Spectrum: Protocol Development and Content Validation. Lang Speech Hear Serv Sch;2025 (Jan 9);56(1):1-16.

PURPOSE: Previous research has shown that many speech-language pathologists (SLPs) lack confidence in conducting augmentative and alternative communication (AAC) evaluations. The AAC Clinical Assessment Project team developed a protocol to help guide SLPs to complete AAC assessments for children with autism spectrum disorder (ASD). This article describes the creation and content validation of the protocol. METHOD: Two studies were conducted. The first study developed the content of the protocol using information from previous research, observation of two AAC clinical specialists, and interviews with these specialists. In the second study, five specialists in AAC and ASD provided content validation by rating the appropriateness of each item in the protocol. Advisory group meetings were held with the specialists to discuss how to edit the protocol based on the survey results. RESULTS: The final protocol contains a description of each area to be assessed, a rationale for assessing it, and suggested methods to conduct the assessment. CONCLUSIONS: The final version of the protocol has excellent content validity. Future research will evaluate the feasibility of using the protocol in clinical practice and whether using the protocol improves the clinical decision making of SLPs when planning AAC assessments. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.27156207.

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16. Lyall K, Dickerson AS, Green AM, Frndak S, Croen LA, Ames JL, Avalos LA, Aschner JL, Bush NR, Camargo CA, Jr., D’Sa V, Dager SR, Dunlop AL, Ferrara A, Ganiban JM, Gern JE, Gissandaner TD, Graff JC, Hertz-Picciotto I, Hipwell AE, Ma T, Miller M, Murphy L, Karagas MR, Kelly RS, Margolis A, Koinis-Mitchell D, McEvoy CT, Messinger D, Nguyen R, Oken E, Ozonoff S, Page GP, Schantz SL, Schmidt RJ, Shuster CL, Schweitzer JB, Sheinkopf SJ, Stanford JB, Trevino CO, Weiss ST, Volk HE, Joseph RM. Demographic Correlates of Autism: How Do Associations Compare Between Diagnosis and a Quantitative Trait Measure?. Autism Res;2025 (Jan 8)

Prevalence of autism diagnosis has historically differed by demographic factors. Using data from 8224 participants drawn from the Environmental influences on Child Health Outcomes (ECHO) Program, we examined relationships between demographic factors and parent-reported autism-related traits as captured by the Social Responsiveness Scale (SRS; T score > 65) and compared these to relations with parent-reported clinician diagnosis of ASD, in generalized linear mixed effects regression analyses. Results suggested lower odds of autism diagnosis, but not of SRS T > 65, for non-Hispanic Black children (adjusted odds ratio [OR] = 0.76, 95% CI 0.55, 1.06) relative to non-Hispanic White children. Higher maternal education was associated with reduced odds of both outcomes (OR = 0.73, 95% CI 0.51, 1.05 for ASD autism diagnosis and 0.4, 95% CI 0.29, 0.55 for SRS score). In addition, results suggested a lower likelihood of autism diagnosis but a higher likelihood of an SRS score > 65 in Black girls. Findings suggest lower diagnostic recognition of autism in non-Hispanic Black children, despite a similar degree of SRS-assessed autism-related traits falling in the clinically elevated range. Further work is needed to address this disparity.

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17. Masoumi E, Soleymani Z, Modarresi Y, Maroufizadeh S, Mohseni F. The Effect of Narrative Intervention on Spoken Narrative and Reading Comprehension Abilities in Farsi-Speaking Children with Autism Spectrum Disorders: A Randomized Clinical Trial. Med J Islam Repub Iran;2024;38:118.

BACKGROUND: Children with autism spectrum disorders (ASD) show prominent deficits in pragmatic aspects of language such as spoken narrative. Deficits in spoken narrative in school years lead to deficits in reading comprehension. Therefore, this randomized clinical trial research examined the influence of narrative intervention on spoken narrative and reading comprehension abilities in children with ASD. METHODS: In the current double-blind, randomized clinical trial study, 21 students with ASD from second to seventh grade participated in the study. Two intervention methods were provided three times a week and a total of 24 sessions of 45 minutes. The experimental group received the Supporting Knowledge in Language and Literacy (SKILL) program and the control group received Traditional Language Therapy (TLT). The score of macrostructures, microstructures, perspective-taking index, narrative complexity, Story knowledge index, and reading comprehension score were measured pre and post-intervention. ANCOVA was used for between- within-group comparisons analysis. RESULTS: The experimental group indicated significant improvement in macrostructure (P < 0.001, η(2) = 0.614), microstructure (P = 0.012, η(2) = 0.303), narrative complexity (P < 0.001, η(2) = 0.585), story knowledge index (P < 0.001, η(2) = 0.574) and perspective taking index (P < 0.001, η(2) = 0.553) compared to the control group. However, the difference between the two groups in reading comprehension skills was not significant in post-intervention (P = 0.457, η(2) = 0.031). CONCLUSION: The results showed the efficacy of the three stages of the SKILL program compared to TLT in spoken narrative. Also, the results of the study showed that the SKILL program and TLT have the same effect on improving reading comprehension.

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18. Mayes SD, Becker SP, Waschbusch DA. Cognitive Disengagement Syndrome and Autism Traits are Empirically Distinct from each Other and from Other Psychopathology Dimensions. Res Child Adolesc Psychopathol;2025 (Jan 9)

Recently, an association between cognitive disengagement syndrome (CDS), formerly sluggish cognitive tempo, and autism has been documented, but it is not known if the association is due to overlapping autism and CDS traits or if CDS is empirically distinct from autism. Mothers rated 2,209 children 4-17 years (1,177 with autism, 725 with ADHD-Combined type, and 307 with ADHD-Inattentive type) on the Pediatric Behavior Scale. Factor analysis of the Pediatric Behavior Scale items indicated that CDS and autism traits are empirically distinct from each other without cross-loading and are distinct from eight other factors (attention deficit, impulsivity, hyperactivity, oppositional behavior, irritability/anger, conduct problems, depression, and anxiety). CDS total scores were significantly higher in the autism + ADHD-Inattentive and autism + ADHD-Combined groups than in the autism, ADHD-Combined, and ADHD-Inattentive only groups with a nonsignificant difference between the latter three groups. CDS and autism are empirically distinct from each other and from other psychopathology dimensions. Overlapping traits do not explain the association between autism and CDS. Autism in combination with ADHD-Combined or ADHD-Inattentive increases the likelihood of CDS relative to youth who have autism, ADHD-Combined, or ADHD-Inattentive only. Because of the known associations between autism, CDS, and ADHD, both autism and ADHD must be assessed in CDS research and clinically to better understand and explain research findings and provide targeted clinical intervention.

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19. Oliver M, Poysden Z, Crowe E, Parkin F, Mair APA, Hendry N, Macey E, Gillespie-Smith K. « Just Listen to Me. Help Me Explore it. » An Interpretative Phenomenological Analysis Exploring Experiences of Gender Dysphoria, Identity And Resilience in Autistic Adolescents Assigned Female at Birth. J Autism Dev Disord;2025 (Jan 7)

Much of the current autism and gender literature has been based within a medical deficiency model; where both are seen as deficiencies rather than differences. However, there is currently minimal knowledge about the experiences of being an autistic adolescent who is both assigned female at birth and has gender dysphoria (GD), whilst even less is known about their experiences of social identity, self-concept and resilience. This study aims to explore experiences of GD with a particular focus on identity and resilience to promote parent and healthcare staff understanding; particularly around gender-affirming care, to foster positive mental health outcomes. Five assigned female at birth autistic adolescents, who identify as trans men/boys, took part in one-to-one semi-structured interviews, which were analysed using an Interpretative Phenomenological Approach. Five subordinate themes arose; « Having both autism and GD », « Finding where I belong », « Being more than labels », « Trying to cope » and « Making support successful ». Our findings build on current literature and theory regarding the experience of concurrent autism and GD; highlighting its legitimacy, the ways in which autism impacts upon GD and how healthcare approaches and policy can increase accessibility and suitability of gender-affirming care.

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20. Petrolo E, Guerrera S, Logrieco MG, Casula L, Vicari S, Valeri G. The role of executive functions in preschool children with autism spectrum disorder: A short narrative review. Res Dev Disabil;2025 (Jan 9);157:104905.

Atypical executive functions (EFs) are well-documented in individuals with autism spectrum disorders (ASD) across all ages. However, most research focuses on EFs impairments in school-aged children and older, with less attention to preschool children. Understanding EF deficits in this age group is challenging and underexplored due to limited studies and measurement difficulties. The current short narrative review’s aim is to provide an update on the knowledge on EFs in preschool children with ASD and their association with ASD symptoms. Despite varied results, recent research suggests early EF difficulties, potentially linked to greater impairments in social skills and externalizing behaviors. This suggests the importance of implementing early interventions that take into account the enhancement of these areas from an early age. Further investigation in this age group could enhance our understanding of ASD.

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21. Salt E, Wiggins AT, Toupin DN, Parks E, Okoli C, Rayens MK. A Demographic Description of Children and Adolescents With Concomitant Autism and Anxiety Along With a Comparison of Receipt of Psychological Services. J Dev Behav Pediatr;2024 (Oct 23)

OBJECTIVE: (1) Evaluate differences in demographic distributions between those with autism alone and those with autism concomitant with anxiety and (2) assess demographic factors associated with receipt of psychological therapy in patients with autism. METHODS: Using deidentified health care claims data, we extracted all encounters among children with the International Classification of Diseases-10-CM for Autism Spectrum Disorder (F84) and flagged those with concomitant anxiety (F41.9). Extracted data included age, sex, race, ethnicity, insurance status, and Rural-Urban Continuum Codes. Current procedural terminology codes for psychological services were extracted. Data were analyzed using Mann-Whitney U tests, χ2 tests of association, and logistic regression. RESULTS: Demographic differences between children/adolescents with autism alone versus autism concomitant with anxiety were noted for age, sex, and race/ethnicity, with a greater prevalence of autism/anxiety identified in older-aged children and children identifying as female and non-Hispanic White residing in an urban area. While 21% of those included in this study had received psychotherapy, the percentages within the autism only and autism/anxiety groups were 12% and 50%, respectively (p < 0.001). Children/adolescents who were older age quartile, resided in an urban residence, and with a concomitant diagnosis of anxiety were more likely to receive psychological services, while non-Hispanic Other were less likely to, compared with the reference of non-Hispanic White. CONCLUSION: We identified demographic disparities in the diagnosis of autism versus autism with concomitant anxiety, including age, sex, race/ethnicity, and residence location. Age quartile, urban location, and concomitant anxiety were associated with increased likelihood of receipt of psychological services.

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22. Tachi A, Takahashi Y, Kotani T. Association between combined use of epidural analgesia and oxytocin administration during labor and offspring outcomes: a narrative review and proposal. Nagoya J Med Sci;2024 (Nov);86(4):549-563.

Studies have suggested that the administration of epidural analgesia (Epi) and oxytocin (OT) during labor affects offspring outcomes. However, the effects of their combined use remain unclear. This article aimed to review the outcomes of offspring exposed to Epi and OT, identify research gaps, and discuss future research directions. We searched the MEDLINE/PubMed, Web of Science, and Cochrane Library databases to identify studies describing offspring outcomes in the Epi, OT, Epi-OT, and control groups. We included one systematic review, six cohort studies, and one case-control study. The offspring outcomes at birth did not differ between the Epi-OT and Epi groups. In the first hour of life, the pre-feeding and sucking behaviors of the Epi-OT group showed an inverse correlation. At 2 days of age, the breastfeeding behavior and skin temperature patterns differed significantly between the Epi-OT and other groups. At 4 days of age, hyperbilirubinemia was more prevalent in the Epi-OT versus control group. Behavioral scores at 1 month differed little among the Epi-OT, Epi, and control groups. No eligible studies examined 1 month to 1 year of life. From 1 to >13 years of age, the risk of autism spectrum disorder was higher in the Epi and Epi-OT groups versus the control group. Most eligible studies were small and observational without randomization, and the results were inconsistent. Additional large cohort studies of various aspects of offspring development are required to assess the long-term effects of Epi-OT administration.

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23. Tan J, Huang M, Ji X, Liu A, Qiao F, Zhang C, Meng L, Wang Y, Xu Z, Hu P. Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay. BMC Pediatr;2025 (Jan 9);25(1):18.

BACKGROUND: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance. CASE PRESENTATION: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.1) and other conventional approaches including chromosomal microarray analysis and whole exome sequencing were failed to detect any pathologic variants that can explain the phenotypes of the proband. Subsequently, long-read Nanopore sequencing was directly conducted and defined the breakpoint position of the inversion, disrupting the MEIS2 gene at intron 8. These breakpoints were also confirmed by Sanger sequencing. CONCLUSIONS: In conclusion, we report the first chromosomal inversion disrupting the MEIS2 gene, which was fine-mapped by long read Nanopore sequencing. Our data not only expand the clinical spectrum of MEIS2-caused syndromic developmental delay, but also illustrate the value of long-read sequencing in elucidating the precise genetic etiology of patients with relatively nonspecific clinical findings and chromosomal inversion that are beyond the resolution of conventional approaches.

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24. Tavares É AF, de Souza DLS, da Silva Gomes FT, Holanda MVF, Oliveira RF, Paiva KM, de Gois Morais PLA, de Vasconcelos CL, de Paiva Cavalcanti DML, de Paiva Cavalcanti JRL. Calcium-Binding Proteins in the Autistic Brain-Potential Links to Symptom Development. Int J Dev Neurosci;2025 (Feb);85(1):e10412.

Autism spectrum disorder (ASD) is a complex challenge, influenced by genetic and environmental factors. This review focuses on the proteins calbindin (CB), calretinin (CR) and parvalbumin (PV) in the context of ASD, exploring their clinical correlations and providing a deeper understanding of the spectrum. In addition, we seek to understand the role of these proteins in GABAergic regulation and their implication in the pathophysiology of ASD. The studies reviewed revealed a significant decrease in PV+ interneurons in the prefrontal cortex of individuals with ASD compared with typical controls. This reduction is associated with local synaptic hyperconnectivity, characterized by an increase in the number of excitatory synapses and a reduction in inhibitory synapses. A correlation was also observed between the decrease in PV+ and the severity of the behavioural symptoms of ASD. The research highlights GABAergic imbalance as a crucial component in the neuropathology of ASD, highlighting the role of calcium-binding proteins, especially PV, in regulating neuronal excitability and modulating synaptic connectivity. These findings provide valuable insights for the development of new therapeutic strategies intended to modulate neuronal activity and improve the symptoms associated with ASD.

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25. Taylor EC, Gocłowska MA, Callan MJ, Livingston LA. Enhanced creativity in autism is due to co-occurring attention-deficit/hyperactivity disorder. J Psychopathol Clin Sci;2025 (Jan 9)

There has been longstanding speculation that enhanced creativity is associated with autism. Evidence for this association, however, is limited and derived from small-scale studies in nonclinical samples. Furthermore, nothing is known about autism-related creativity after accounting for general cognitive ability and attention-deficit/hyperactivity disorder (ADHD), that is, other factors known to predict creativity. Addressing these issues, we conducted preregistered comparisons of the creativity of autistic and nonautistic adults (N = 352), matched on age, sex, and general cognitive ability. We found clear evidence that there were no group differences on a divergent thinking creativity task. Autistic adults did self-report more real-world creative accomplishments and behaviors, but these differences did not hold after accounting for ADHD. We conclude that enhanced creativity, where observed in autistic people, is likely to be driven by co-occurring ADHD. The clinical and practical implications of these findings for strength-based approaches to psychopathology are discussed. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

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26. Tirupathi SP, Afnan L. Effectiveness of ‘video-based interventions’ of toothbrushing over other interventions on improvement of oral hygiene in children with Autism Spectrum Disorders (ASD): a systematic review and meta-analysis. Evid Based Dent;2025 (Jan 9)

BACKGROUND: Children with Autism exhibit impairment of fine motor co-ordination and sensory sensibilities and hence can directly affect the toothbrushing leading to poor oral hygiene. AIM: This current systematic review and meta-analysis (SRMA) aims to evaluate the effectiveness of Video-based intervention of toothbrush training over other methods on improvement of oral hygiene in children with autism spectrum disorders (ASD) MATERIALS AND METHODS: Prospero no: (CRD42023450168). ‘PubMed’, ‘Cochrane’, ‘Ovid’ databases were searched from 1 January 1980 to 1 August 2023 using pre-defined search strategy. RESULTS: 212 titles were retrieved after, duplicate exclusion, removal of irrelevant titles led to the final inclusion of 13 articles for full text screening out of which 7 articles were included for the final analysis. CONCLUSION: Even though video intervention reported better outcomes in individual studies, pooled data showed no significant superiority over other interventions such as social stories and picture-based interventions in relation to toothbrushing in children with ASD as indicated by the Plaque Index score (PI-S) and Oral hygiene index score (OHI-S).

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27. Wang J, Zhang J, Li J, Gao Q, Chen J, Jia C, Gu X. Cortex-specific Tmem169 Deficiency Induces Defects in Cortical Neuron Development and Autism-like Behaviors in Mice. J Neurosci;2025 (Jan 8)

The development of the nervous system is a complex process, with many challenging scientific questions yet to be resolved. Disruptions in brain development are strongly associated with neurodevelopmental disorders, such as intellectual disability and autism. While the genetic basis of autism is well established, the precise pathological mechanisms remain unclear. Variations on chromosome 2q have been linked to autism, yet the specific genes responsible for the disorder have not been identified. This study investigates the role of the transmembrane protein 169 (Tmem169) gene, located on human chromosome 2q35, which has not been previously characterized. Our findings indicate that Tmem169 is highly expressed in the nervous system, and its deletion in the male mouse dorsal forebrain results in neuronal morphological abnormalities and synaptic dysfunction. Notably, Tmem169-deficient mice, irrespective of sex, display behavioral traits resembling those observed in individuals with autism. These results suggest that Tmem169 interacts with several key neuronal proteins, many of which are implicated in neurodevelopmental diseases. Furthermore, we demonstrate that Tmem169 promotes neuronal process and synapse development through its interaction with Shank3.Significance statement The prevalence of autism worldwide is estimated to be around 1-2%, causing significant burdens for both patients and their families. Our research reveals that Tmem169 not only interacts with important protein products of genes associated with autism, but also influences the levels of many critical synaptic proteins at synapses. We also demonstrated Tmem169 modulates neuronal process and synapse development at least partially via Shank3. Specific knockout of the Tmem169 gene in the cortex of mice induce autism-like behaviors. These findings provide the first insight into the role of the Tmem169 gene in neurodevelopment and offer new avenues for potential treatments and serve as an important theoretical basis for early screening and enhancing population quality related to autism.

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28. Wang J, Zhang L, Chen S, Xue H, Du M, Xu Y, Liu S, Ming D. Individuals with high autistic traits exhibit altered interhemispheric brain functional connectivity patterns. Cogn Neurodyn;2025 (Dec);19(1):9.

Individuals with high autistic traits (AT) encounter challenges in social interaction, similar to autistic persons. Precise screening and focused interventions positively contribute to improving this situation. Functional connectivity analyses can measure information transmission and integration between brain regions, providing neurophysiological insights into these challenges. This study aimed to investigate the patterns of brain networks in high AT individuals to offer theoretical support for screening and intervention decisions. EEG data were collected during a 4-min resting state session with eyes open and closed from 48 participants. Using the Autism Spectrum Quotient (AQ) scale, participants were categorized into the high AT group (HAT, n = 15) and low AT groups (LAT, n = 15). We computed the interhemispheric and intrahemispheric alpha coherence in two groups. The correlation between physiological indices and AQ scores was also examined. Results revealed that HAT exhibited significantly lower alpha coherence in the homologous hemispheres of the occipital cortex compared to LAT during the eyes-closed resting state. Additionally, significant negative correlations were observed between the degree of AT (AQ scores) and the alpha coherence in the occipital cortex, as well as in the right frontal and left occipital regions. The findings indicated that high AT individuals exhibit decreased connectivity in the occipital region, potentially resulting in diminished ability to process social information from visual inputs. Our discovery contributes to a deeper comprehension of the neural underpinnings of social challenges in high AT individuals, providing neurophysiological signatures for screening and intervention strategies for this population.

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29. Wang N, Wang G, Chen D. [Efficacy of acupuncture based on « gut-brain axis » combined with sensory integration training on autism spectrum disorder and its effect on gastrointestinal symptoms]. Zhongguo Zhen Jiu;2025 (Jan 12);45(1):36-40.

OBJECTIVE: To explore the efficacy of acupuncture based on « gut-brain axis » combined with sensory integration training in children with autism spectrum disorder (autism) and its effect on gastrointestinal symptoms. METHODS: A total of 96 children with autism were randomized into an observation group and a control group, 48 cases in each group, with 3 cases dropped out. Children in the control group received sensory integration training. On the basis of the treatment in the control group, children in the observation group received acupuncture therapy based on « gut-brain axis », and the point selection of scalp acupuncture was forehead five needles, i.e. bilateral Touwei (ST8), Toulinqi (GB15), Shenting (GV24) and Sishencong (EX-HN1), the point selection of body acupuncture was Zhongshu (GV7) and bilateral Tianshu (ST25), Pishu (BL20), Xinshu (BL15), Zusanli (ST36), Hegu (LI4), Taichong (LR3). Acupuncture was delivered once every other day, 3 times a week. Both groups were treated for 12 weeks. Before and after treatment, the scores of autism behavior checklist (ABC), childhood autism rating scale (CARS), autism treatment evaluation checklist (ATEC) and gastrointestinal TCM symptoms, as well as the relative abundance of intestinal flora were compared, and the clinical efficacy was evaluated in the two groups. RESULTS: After treatment, the ABC and CARS scores were decreased compared with those before treatment in the two groups (P<0.001, P<0.05), and the ABC and CARS scores in the observation group were lower than those in the control group (P<0.01). After treatment, the item scores of language, sensory perception, sociability, behavior, and the total score of ATEC in the observation group were decreased compared with those before treatment (P<0.001, P<0.01), the item scores of language, sociability, behavior, and the total score of ATEC in the control group were decreased compared with those before treatment (P<0.01, P<0.001, P<0.05); the each-item and total scores in the observation group were lower than those in the control group (P<0.05). After treatment, the scores of loose stool, stomach duct pain, stomach duct stuffiness, decreased appetite, and the total scores of gastrointestinal TCM symptoms were reduced compared with those before treatment in the two groups (P<0.001), and the above scores in the observation group were lower than those in the control group (P<0.001). After treatment, the relative abundance of Escherichia coli and Enterococcus was decreased compared with that before treatment in the two groups (P<0.001), and the above relative abundance in the observation group was lower than that in the control group (P<0.001); the relative abundance of Bifidobacterium and Lactobacillus was increased compared with that before treatment in the two groups (P<0.001), and the above relative abundance in the observation group was higher than that in the control group (P<0.001). The total effective rate was 88.9% (40/45) in the observation group, which was higher than 66.7% (30/45) in the control group (P<0.05). CONCLUSION: On the basis of sensory integration training, acupuncture based on "gut-brain axis" can improve the behavioral status and gastrointestinal symptoms, and correct the imbalance of intestinal flora in children with autism.

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30. Xue H, Zhang L, Wang J, Liu W, Liu S, Ming D. Corrigendum: Dynamic eye avoidance patterns in the high autistic traits group: an eye-tracking study. Front Psychiatry;2024;15:1543460.

[This corrects the article DOI: 10.3389/fpsyt.2023.1086282.].

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31. Zhang H, Sun H, Li J, Lei X. Subtypes of Insomnia Disorder Identified by Cortical Morphometric Similarity Network. Hum Brain Mapp;2025 (Jan);46(1):e70119.

Insomnia disorder (ID) is a highly heterogeneous psychiatric disease, and the use of neuroanatomical data to objectively define biological subtypes is essential. We aimed to examine the neuroanatomical subtypes of ID by morphometric similarity network (MSN) and the association between MSN changes and specific transcriptional expression patterns. We recruited 144 IDs and 124 healthy controls (HC). We performed heterogeneity through discriminant analysis (HYDRA) and identified subtypes within the MSN strength. Differences in MSN between subtypes and HC were compared, and clinical behavioral differences were compared between subtypes. In addition, we investigated the association between MSN changes and brain gene expression in different ID subtypes using partial least squares regression to assess genetic commonalities in psychiatric disorders and further performed functional enrichment analyses. Two distinct subtypes of ID were identified, each exhibiting different MSN changes compared to HC. Furthermore, subtype 1 is characterized by objective short sleep, impaired cognitive function, and some relationships with major depressive disorder and autism spectrum disorder (ASD). In contrast, subtype 2 has normal objective sleep duration but subjectively reports poor sleep and is only related to ASD. The pathogenesis of subtype 1 may be related to genes that regulate sleep rhythms and sleep-wake cycles. In contrast, subtype 2 is more due to adverse emotion perception and regulation. Overall, these findings provide insights into the neuroanatomical subtypes of ID, elucidating the relationships between structural and molecular aspects of the relevant subtypes.

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32. Zhu JS, Gong Q, Zhao MT, Jiao Y. Atypical brain network topology of the triple network and cortico-subcortical network in autism spectrum disorder. Neuroscience;2025 (Jan 9);564:21-30.

The default mode network (DMN), salience network (SN), and central executive control network (CEN) form the well-known triple network, providing a framework for understanding various neurodevelopmental and psychiatric disorders. However, the topology of this network remains unclear in autism spectrum disorder (ASD). To gain a more profound understanding of ASD, we explored the topology of the triple network in ASD. Additionally, the striatum and thalamus are pivotal centres of information transmission within the brain, and the realization of various brain functions requires the coordination of cortical and subcortical structures. Therefore, we also investigated the topology of the cortico-subcortical network in ASD, which consists of the DMN, SN, CEN, striatum, and thalamus. Resting-state functional magnetic resonance imaging data on 208 ASD patients and 278 typically developing (TD) controls (8-18 years old) were obtained from the Autism Brain Imaging Data Exchange database. We performed graph theory analysis on the triple network and the cortico-subcortical network. The results showed that the triple network’s clustering coefficient, lambda, and network local efficiency values were significantly lower in ASD, and the nodal degree and efficiency of the medial prefrontal cortex also decreased. For the cortico-subcortical network, the sigma, clustering coefficient, gamma, and network local efficiency showed the same reduction, and the altered clustering coefficient negatively correlated with ASD manifestations. In addition, the interaction between the DMN and CEN was more robust in ASD patients. These findings enhance our understanding of ASD and suggest that subcortical structures should be more considered in future ASD related studies.

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