1. Abu-Ramadan TM, Tassone AU, Andrzejewski TM, Breitenfeldt KE, Batista SG, McDonnell CG. Diagnostic Experiences and Barriers to Diagnosis Among Autistic Adults in the United States: Associations with Diagnostic Timing and Gender. J Autism Dev Disord. 2025.

Understanding Autistic experiences with autism diagnostic processes in the United States is an important priority, including whether assessment experiences differ by diagnostic timing (whether individuals were diagnosed as a child or adult) and gender. Autistic adults (N = 129) who self-consented to participate in online research completed a survey assessing various domains of assessment experiences (e.g., factors leading to an assessment, assessment visits, emotional reactions to diagnosis, post-diagnostic support, diagnostic satisfaction, diagnostic barriers). Analyses examined correlates of diagnostic satisfaction and differences in diagnostic experiences by diagnostic timing and gender (cisgender women, cisgender men, gender diverse group). Fewer barriers to diagnosis, receiving a written report, seeing fewer providers, receiving post-diagnostic resources, and feeling relieved in response to the diagnosis related to higher diagnostic satisfaction. Adult-diagnosed individuals were more likely to raise the question of whether they were Autistic themselves, have mental health concerns contribute to seeking an assessment, and have more positive emotional reactions to the diagnosis compared to child-diagnosed individuals. Barriers and desired post-diagnostic supports also differed by diagnostic timing. Cisgender women and individuals in the gender diverse group were more likely to feel relieved in response to their autism diagnosis. The gender diverse group was most likely to desire post-diagnostic support regarding trauma and suicidality and reported the highest number of barriers to diagnosis. Diagnostic timing and gender relate to a range of diagnostic experiences. Findings highlight the importance of enhancing post-diagnostic support and reducing barriers to assessment, particularly across Autistic people of different genders.

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2. Bakytbekovna AD, Erkibayeva ZU, Yermukhanova GT, Yakubova I, Tsypan S, Ryskulova AR, Talekar A. Risk Factors of Early Dental Caries in Children with Autistic Spectrum Disorders in the Republic of Kazakhstan and Ukraine. J Int Soc Prev Community Dent. 2025; 15(3): 247-56.

AIM: The prevalence of autism spectrum disorder (ASD) and early childhood caries (ECC) is increasing globally. The association between ASD and ECC remains unclear. This study aimed to evaluate risk factors for ECC in children with ASD in Kazakhstan and Ukraine. MATERIALS AND METHODS: This multi-center observational study included 190 children aged 5-6 years (125 with ASD and 65 without ASD) from Kazakhstan (n = 98) and Ukraine (n = 92). Data on oral hygiene practices, dietary habits, and oral fluid pH were collected through parental surveys and clinical examinations. Oral hygiene was assessed using a modified plaque index (Kazakhstan) and the Fedorov-Volodkina index (Ukraine). Statistical analysis included the average values of quantitative data, and the Student t test was calculated. Mixed-effects analysis of variance was used for intergroup and intragroup comparison of the results of the quality of hygiene in children 5-6 years. RESULTS: In Kazakhstan, only 16.07% of children with ASD brushed their teeth twice daily, compared to 33.33% in Ukraine. Mean plaque index scores indicated poor oral hygiene in children with ASD in both Kazakhstan (2.6 ± 0.14) and Ukraine (2.70 ± 0.13). Oral fluid pH was significantly lower (more acidic) in children with ASD in both Kazakhstan (5.53 ± 0.07) and Ukraine (5.96 ± 0.07) compared with controls. The dietary habits observed slow eating patterns in the ASD group from the range of 8.70-25%. CONCLUSIONS: Children with ASD in both Kazakhstan and Ukraine exhibit a higher risk for ECC, which is associated with poor oral hygiene practices and acidic oral pH. These findings highlight the need for targeted oral health interventions and guidelines for children with ASD, irrespective of geographic location.

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3. Cummings SN, Duda B, Theodore RM. Autistic Listeners Demonstrate Robust Lexically Guided Perceptual Learning. Autism Res. 2025.

Listeners accommodate rampant variability in speech input, at least in part, by adapting to structured phonetic variation. However, most work demonstrating this type of perceptual learning has focused on group-level effects in modal populations. This approach masks potentially meaningful differences-present among all listeners but particularly associated with autism-in sensory perception, social functioning, and language processing. These differences may be expected to influence adaptation, but their roles remain unclear. The present investigation aimed to clarify the relationships between autism, perceptual acuity, and adaptation. Listeners (n = 80, of which 40 were diagnosed with autism) were exposed to spectral energy ambiguous between /s/ and /ʃ/ in lexical contexts designed to elicit adaptation. Learning was assessed by comparing categorization of an ashi-asi test continuum before and after the critical lexically guided exposure. Autistic traits and pitch pattern sensitivity were also assessed. Robust learning was observed by both the general population and autistic listeners, with no evidence to suggest that learning was associated with autistic traits or pitch pattern sensitivity. These results advance theories of speech adaptation by constraining determinants of lexically guided perceptual learning to suggest that the social language traits of autism may be orthogonal to adaptation in speech perception.

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4. Davidson D, Sawyer B, Kiessel C. Autistic and Non-autistic Children’s Recounting of Basic and Self-Conscious Emotional Experiences. J Autism Dev Disord. 2025.

PURPOSE: In the present study, we asked autistic and non-autistic children to recount personally experienced basic (fear, happiness, sadness) and self-conscious (guilt, pride, embarrassment) emotions. Using linguistic analyses, children’s recounts were examined in order to gain new insights into their understanding of these emotions. METHODS: Children were asked to recount personally experienced basic and self-conscious emotions. Discourse and content analyses were performed on their responses. RESULTS: For basic emotions, autistic and non-autistic children’s recounts did not differ in terms of number of responses provided following two requests, length of responses (i.e., number of verb and argument clauses in recounts), and the number of prompts needed to elicit basic emotion recounts. Moreover, children did not differ in the appropriateness of their recounts of basic emotions, although autistic children made fewer causal inferences about sadness than their non-autistic peers. In contrast, autistic children offered significantly fewer recounts of guilt and embarrassment and provided briefer recounts of guilt compared to their non-autistic peers. Autistic children also made fewer references to others in their recounts for guilt and embarrassment and were less likely to include social context information (i.e. references to others). Finally, autism symptomatology predicted appropriateness of content for guilt and pride, whereas vocabulary level predicted appropriateness of content for sadness and embarrassment. CONCLUSION: Few linguistic differences were found in children’s recounting of basic emotions, whereas autistic children showed less appropriate content for self-conscious emotions. Implications of our findings in terms of possible avenues for intervention and training are given.

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5. Deng L, Lu MJ, Yang LT, Zhang Y, Tan HY, Cao M, Li F. A New Paradigm for Autism Spectrum Disorder Discrimination in Children Utilizing EEG Data Collected During Cartoon Viewing With a Focus on Atypical Semantic Processing. Autism Res. 2025.

Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication skills, with semantic processing difficulties being a hallmark feature that significantly impacts social communication. While traditional neuroimaging studies have provided insights into language processing in ASD, ecological validity remains a challenge, particularly when assessing young children. This study introduces a novel approach to evaluate atypical semantic processing in children with ASD (aged 4-10 years) through electroencephalography (EEG) data collection during cartoon viewing, offering a more natural assessment environment. We developed an innovative methodology combining pretrained language models with regression techniques in a machine learning framework. The analysis incorporated the Six-dimensional Semantic Database system and EEG topographical mapping to investigate semantic processing preferences and neural mechanisms across various word dimensions. Our semantic processing model demonstrated robust performance with high sensitivity (91.3%) and moderate specificity (61.0%); findings successfully replicated in validation analysis. These results reveal distinct patterns in how children with ASD process semantic information, particularly in their integration and response to emotional semantic dimensions. These findings help us understand the language processing patterns in ASD and provide potential applications for auxiliary diagnosis in more natural settings, meeting important needs in clinical practice.

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6. Figueiredo LC, Otoch LN, Godoy PBG, Ubeid G, Santos LHR, Quinteiro VD, Bruckner JP, Taylor C, Green J, Shephard E. Feasibility of a preemptive therapy for Brazilian infants with family history of autism and ADHD. J Reprod Infant Psychol. 2025: 1-15.

OBJECTIVE: This pilot study aims to investigate the preliminary feasibility and acceptability of a pre-emptive intervention for infants with a family history of autism and/or attention-deficit/hyperactivity disorder (ADHD) in Brazil. BACKGROUND: Infants with a first-degree relative diagnosed with autism or ADHD are more likely to meet diagnostic criteria for these conditions later in childhood. From the first year of life, these infants may also experience a range of developmental difficulties as well as differences in their day-to-day interactions with their caregivers. The pre-emptive iBASIS intervention has shown efficacy in enhancing caregiver-infant interaction and social-communication development in infants with family history or early signs of autism in the UK and Australia, but has not been assessed in lower-resource contexts nor for infants with a family history of ADHD. METHODS: iBASIS was delivered to nine Brazilian mothers of infants aged 4-13 months with and without a family history of autism/ADHD. Quantitative (number of drop-outs, number of sessions completed) and qualitative (themes developed from interviews with the mothers using reflexive thematic analysis) measures were used to assess feasibility and acceptability of iBASIS. RESULTS: Eight of the nine mothers completed all iBASIS sessions. Six mothers interviewed described receiving iBASIS as a positive experience with benefits for themselves and their infants consistent with the themes of the therapy. The mothers considered practical aspects of iBASIS to be feasible and challenges associated with completing the intervention surmountable. CONCLUSIONS: These findings provide the first preliminary evidence of the good feasibility and acceptability of iBASIS in a non-English-speaking, socioeconomically and culturally diverse context.

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7. Hirn E, Huppke B, Wilken B, Kiehntopf M, Huppke P. Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain. Pediatr Neurol. 2025; 172: 1-7.

BACKGROUND: Rett syndrome, a neurodevelopmental disorder predominantly affecting females, is caused by variants in MECP2. Individuals experience a decline in skills, particularly involving language and hand function; nevertheless, studies of brain pathology suggest that neurodegeneration is not involved. To further investigate the presence of neurodegeneration, we measured serum neurofilament light chain (sNfL), a sensitive biomarker of neuronal damage. METHODS: Cross-sectional study performed in a cohort of Rett syndrome females with a confirmed pathogenic MECP2 variant. sNfL levels were measured using single-molecule array assay, converted to an age-adjusted z-score, and compared with MECP2 variant type and clinical characteristics. RESULTS: Included were 77 patients; mean age 14 years, median sNfL level 6.8 pg/mL. sNfL z-scores were higher in the Rett cohort compared to healthy age-matched females (P < 0.001). Elevated sNfL levels were associated with pathogenic variant type; only patients carrying variants affecting the nuclear receptor corepressor interaction domain had elevated sNfL z-scores (P < 0.001) greater than healthy age-matched females, while those with C-terminal deletions or missense variants outside this domain did not. Consistently, patients unable to walk independently and without residual hand function had higher sNfL levels than patients with residual function in these respective areas (P = 0.04). CONCLUSIONS: sNfL levels were elevated in our Rett syndrome cohort, irrespective of age, indicating ongoing neuronal damage. However, on closer inspection, this finding was true only for a subset of patients with more severe pathogenic variants affecting the nuclear receptor corepressor interaction domain. sNfL may prove a useful biomarker in upcoming therapeutic trials.

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8. Liu Q, Wang Q, Gong X, Luo X, Ji Z, Yin T, Su X, Chen J, Li X, Yi L, Liu J. Audio-Visual Speech Synchrony Impacts Gaze Patterns in Autism. J Autism Dev Disord. 2025.

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9. Morag SB, Itzkovich C, Kurolap A, Shohat M, Durr A, Agathe JS, Bertrand J, Koifman A, Alkelai A, Shuldiner AR, Mory A, Harel T, Mor-Shaked H, Shalata A, Paperna T, Feldman HB, Kakun RR, Kornitzer D, Salzberg A, Weiss K. A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesis. Genet Med. 2025: 101569.

PURPOSE: Hereditary spastic paraparesis (HSP) is a genetically diverse group of Mendelian disorders characterized by length-dependent axonal degeneration. Microtubule dysfunction is a known mechanism in HSP that impairs axonal dynamics. TBCB encodes Tubulin folding co-factor B (TBCB), which, along with TBCE, regulates αβ-heterodimer dynamics and neuronal axonal growth. Here, we describe a new form of complicated HSP caused by a founder variant in TBCB. METHODS: Exome sequencing revealed a homozygous c.589T>A p.(Tyr197Asn) variant in TBCB in a cohort of ten individuals assembled through genematching tools. Protein function was assessed using Saccharomyces cerevisiae orthologue ALF1, and a CRISPR-Cas9-generated homologous mutant in Drosophila melanogaster. TBCB expression and localization were examined in fibroblasts using western blot and immunofluorescence. RESULTS: Participants displayed late childhood onset spastic paraparesis, global developmental delay and autism spectrum. TBCB protein levels were reduced in affected fibroblasts. The ALF1 mutant in yeast increased benomyl sensitivity, resembling a loss-of-function phenotype. In Drosophila melanogaster, the homologous mutant led to reduced survival and impaired climbing ability. CONCLUSIONS: We describe a novel neurodevelopmental disorder with spastic paraparesis and a high carrier rate in the Ashkenazi Jewish population. Our results indicate that TBCB has a vital role in CNS development and potentially in axonal function in humans.

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10. Prynda M, Mazur M, Doroz P, Odrzywolska O, Aboud A, Dyląg A, Niemczyk W. Barriers to dental treatment for patients on the autism spectrum disorder. Wiad Lek. 2025; 78(7): 1433-7.

Individuals diagnosed with autism spectrum disorder (ASD) encounter significant obstacles when attempting to access dental care services. These obstacles are a result of their unique health requirements, behavioral challenges, and communication impairments. The primary challenges encompass a reliance on caregivers, challenges with adhering to proper oral hygiene practices, selective eating habits that contribute to dental caries, and an impaired capacity to communicate pain and health requirements. Furthermore, dental clinics frequently lack the capacity to accommodate individuals with ASD, exacerbating their stress during visits. A further salient issue pertains to the dearth of adequate staff training to address the needs of patients necessitating specialized care. The objective of this paper is to analyze these barriers and propose solutions that can increase the accessibility and quality of dental care for individuals with ASD, thereby improving their comfort and oral health.

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11. Saad MAE. Sleep Problems in Children with ASD and Mothers’ Stress: the Mediating Role of Mother’s Quality of Life and Moderator Role of Mother’s Resilience. J Autism Dev Disord. 2025.

The present study aimed to examine the mediating role of mother’s quality of life and moderator role of mother’s resilience in the relationship between sleep problems in children with ASD and mothers’ stress. One hundred and eighty eight children and their mothers participated in the present study. Questionnaires were used to collect data. The results of the mediation and mediated moderation analyses in this context confirmed the hypotheses of the study. The results provided important data on the factors that affect the mothers’ stress of children with ASD and how mother’s resilience can play a moderating role. Sleep problems in children with ASD indicates mothers’ stress (b = 0.21, p < .001, 95% CI [0.18, 0.24]) and mother's quality of life (b = -0.21, p < .01), 95% CI [-0.20, 0.25]). After controlling for the effect of sleep problems, mothers' stress predicted mother's quality of life at negative and significant levels (b = -. 18, p < .01, 95% CI [-0.11, 0.22]). Children with ASD often exhibit sleep difficulties which increase maladaptive daytime behaviors and this impacts their mothers' stress. This in its turn leads to poor health outcomes for mothers. Accordingly, increased, prolonged parental stress can be related to decreased health-related quality of life (QoL). The relationship between poor sleep of the child, increased problem behaviors, and parent's stress becomes a perpetual cycle.

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12. Soltysova M, Tomova A, Paulinyova M, Lakatosova S, Trebaticka J, Ostatnikova D. Gut microbiota in children and adolescents with autism, ADHD and anorexia nervosa, and its link to the levels of satiety hormones. Neuroscience. 2025.

Neurodevelopmental disorders such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and anorexia nervosa (AN) significantly impact affected individuals and their families. This study investigated differences in gut microbiota composition, neurotrophic factors, intestinal inflammation biomarkers, and food intake-regulating hormones between affected children and healthy controls. As these disorders are often accompanied by abnormal eating behaviours, we also explored the levels of food intake regulating hormones and their interrelations with other parameters. Our cohort comprised 117 children, including 65 patients (30 boys with ASD, 21 girls with AN, and 14 patients with ADHD) and 52 age- and sex-matched healthy children. We found several common patterns in dysbiosis of different disorders. Richness was lower in ASD and ADHD, and the Bacteroidetes/Firmicutes ratio was higher in all disorders. The Desulfovibriota abundance was increased in ADHD and AN, and Escherichia-Shigella was elevated in ASD and ADHD. Faecalibacterium abundance was decreased in ADHD and AN. A reduction of Bifidobacterium was also common. Children with ASD exhibited an elevated Bacteroidetes and a diminished Actinobacteriota, and Ruminococcus. Children with ADHD manifested reduced Firmicutes. Girls with AN displayed a decreased Firmicutes and increased Proteobacteria, Cyanobacteria, and Verrucomicrobiota. Calprotectin, zonulin and neurotrophic factors levels showed no significant differences. Lower PYY levels in ADHD and reduced PYY, leptin, and ghrelin levels in AN patients were found. Notably, certain resemblances was observed in the microbiotic taxa abundances across all patient cohorts, underscoring the conceivable influence of gut microbiota composition on the behavioral manifestations of mental disorders.

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13. Stearns MA, Hayse B, McGovney K, Nair N, Mazurek M, Curtis AF, Beversdorf D, Sohl K, McCrae CS. Psychosocial Functioning Mediates Parental Depression and Sleep in Autistic Children. J Autism Dev Disord. 2025.

Parents of children who have sleep difficulties often experience depression. Although complex, this relationship may be at least partially explained because the children of parents with depression are more likely to experience poor psychosocial functioning, which can negatively impact their sleep. Autistic children are particularly at risk for sleep difficulties, and it is important to better understand these relationships as scant to no research has been done that investigates parental depression, child psychosocial functioning, and child sleep among autistic children. The current study examined whether parental perception of their child’s psychosocial functioning mediated the relationship between parental depression and their child’s sleep. The sample (N = 74) consisted of parents (77% female) reporting on their children aged 6-12 (M = 8.85, SD = 1.96; 74.3% male). All children were diagnosed with autistic spectrum disorder and had sleep complaints as reported by their parents. Measures included the Child Sleep Health Questionnaire (CSHQ), sleep onset latency (SOL) and total sleep time (TST) from 14 days of sleep diaries, the Pediatric Symptom Checklist (PSC), and a question asking if the parent had been diagnosed with depression (yes/no). Child psychosocial functioning significantly mediated the relationship between parental depression and child sleep (CSHQ and TST). These results indicate that child psychosocial functioning may help to explain the connection between diagnosed parental depression and poor child sleep among autistic children.

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14. Vassall SG, Shragge I, Srinivasan H, Quackenbush WJ, Wallace MT. Recommendations for Increasing Sample Diversity in Autism Research: Lessons from Multisensory Studies. J Autism Dev Disord. 2025.

In 2024, the United States House of Representatives passed ruling H.R.7213, the Autism CARES Act, which, if passed by the Senate, will reauthorize funding to extant national autism research programs, with an emphasis on including autistic individuals significantly affected by the disorder. This shift toward research inclusion across the autism spectrum clearly highlights the lack of representation in the past. In the field of multisensory integration, it is well documented that there are changes to how autistic individuals integrate stimuli across different sensory modalities, and the relationship between atypical (multi)sensory processing and the core features of autism is well documented. However, much of this research utilizes samples of autistic individuals with high cognitive, verbal, and functional ability. The purpose of this review is to draw attention to disparities in the samples used in multisensory research in autism. We conducted a systematic review of all studies examining multisensory function in autism to date and provide basic descriptive statistics of the studies. We observed that the vast majority of multisensory research is focused on young, low support needs autistic individuals, with very little investigation in autistic individuals with high support needs (HSN). Additionally, we found investigation into the effect of sex or comorbidities to be lacking. We propose methodological improvements addressing gaps in the research in order to make multisensory research in autism more inclusive to HSN autistics.

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15. Yoo GE, Lee EY, Lee E. Neural correlates of social motor coordination in autism: A systematic review and meta-analysis of fNIRS studies. Neurosci Biobehav Rev. 2025: 106347.

This study aimed to provide a comprehensive overview of how individuals with autism spectrum condition (ASC) process social motor coordination, focusing on joint action and its neural correlates, as examined through functional near-infrared spectroscopy (fNIRS) in comparing to their neurotypical (NT) counterparts. Eleven studies were analyzed, with nine included in the meta-analysis. The results identified the inferior parietal lobule (IPL) and superior temporal sulcus (STS) as significant moderators explaining group differences in cortical activation during joint action. Specifically, individuals with ASC showed increased IPL activation and reduced STS activation, indicating a greater reliance on kinematic processing and diminished engagement in encoding and integrating socially relevant information. Although the pooled effect size for inter-brain synchrony (IBS) was not statistically significant, descriptive analyses showed a trend toward reduced reciprocal processing in ASC, particularly in predicting and aligning with a partner’s mental states, as supported by decreased IBS in the temporoparietal junction (TPJ). Furthermore, a visual inspection of behavioral and neural outcomes by autism severity exhibited distinct tendencies. Individuals with mild symptoms demonstrated different neural-behavioral associations compared to those with moderate-to-severe symptoms, suggesting that symptom severity influences how neural processing supports joint action. These findings highlight the differential involvement of neural systems in joint actions among individuals with ASC depending on task type and autism severity, and emphasize the distinction between intra- and inter-personal processing. By integrating these findings, this study offers a more integrative perspective on social motor coordination in ASC as a complex, multi-dimensional process.

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16. Zhang L, Guan X, Wang D, Wang J, Liu X, Liu S, Ming D. Understanding face processing in autism spectrum disorder: insights from cognitive neuroscience. Cogn Neurodyn. 2025; 19(1): 137.

Faces convey critical information for social communication, such as identity, expression, and eye gaze. Unfortunately, individuals with autism spectrum disorder (ASD) often experience difficulties in processing this information, and these deficits lead to their suffering from social interactions. Importantly, since face processing is a social skill developed during early childhood, its deficits may be an early symptom of ASD. In recent years, researchers have made great progress in identifying face processing impairments in individuals with ASD and exploring their biological underpinnings. In this paper, we reviewed the research progress on face processing impairments in individuals with ASD. Moreover, we mainly summarized the mechanisms proposed to underlie these impairments, including the changes in brain structure and function, atypical social cognition, and genetic variation. Finally, we discussed the factors leading to the inconsistent results of existing studies. Focused efforts to research the alterations and mechanisms of face processing might improve our knowledge of this complex, heterogeneous neurodevelopmental disorder. The ultimate purpose is to help clinical diagnosis and treatment, thereby improving the function of individuals with ASD.

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