1. Allé MC, Schneider P, Rigoulot L, Gandolphe MC, Danion JM, Coutelle R, Berna F. Narrative identity differences in autism. Sci Rep. 2025; 15(1): 16990.

Autism is characterized by a modification of the sense of self, particularly self-continuity. While former studies focused on the recollection and narrative of single past events, the present study aimed to explore autistic individuals’ narrative identity by assessing for the first time their life story, described as the most integrated form of personal narrative and the closest to the self. A comparison of the narrative coherence of autistic individuals’ life stories (n = 22) with those of nonautistic participants (n = 22) revealed that global coherence, particularly causal-motivational coherence, was lower in the life narratives of autistic individuals. Additionally, typical narrative beginnings at birth and elaborated endings were less frequent in autistic individuals. In comparison with the nonautistic group, the autism group included personal events in their life narratives that were self-rated as more negative and associated with negative feelings at retrieval, along with having lower life impacts. The present study provides evidence for a different narrative identity in autism. We discussed how this effect could be related to variations in narrative coherence and temporal framework, possibly influenced by differences in others’ perspective-taking.

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2. Anderer S. CDC: Better Screening Access Drives Rise in Autism Diagnoses. Jama. 2025.

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3. Benjamin LR, Stahmer AC, Lau A, Brookman-Frazee L. Caregiver concerns for autistic children differ between publicly funded educational and mental health settings: Findings from a community implementation-effectiveness trial. Autism. 2025: 13623613251337536.

This study sought to characterize caregiver concerns for autistic children receiving care in two public service systems-schools and mental health programs-and to identify child and family characteristics associated with these concerns. Caregivers of 353 school-age autistic children in mental health services (n = 192) or schools (n = 161) named, in their own words, the top three concerns for their child. A modified version of Weisz et al.’s Top Problem coding system was developed to expand beyond the original codes, capturing child emotional and behavioral problems, autism features, and adaptive behaviors. Most caregivers (61.8%) identified externalizing behaviors like aggression, as well as social differences (36.3%) and attention difficulties (35.4%) as top problems. Caregivers also mentioned autism-specific concerns related to social responsiveness (54.7%). Participant characteristics, including child age and caregiver race/ethnicity, were associated with concerns. Controlling for child age and caregiver ethnicity, concerns differed by setting; caregivers in mental health (vs. school) settings named more externalizing behaviors, while those in school settings named more restricted repetitive behaviors and social differences. Findings highlight the need to implement setting-specific interventions individualized to caregivers’ priorities and to ensure opportunities for cross-system coordination.Lay abstractThis study explored what concerns caregivers have about their autistic children when receiving care from either mental health programs or schools. Caregivers shared, in their own words, the top three concerns they worry about most for their child. Caregivers had many different concerns, including worries about their child’s emotions and behaviors, autism-related traits, daily living skills, and ability to manage feelings and behavior. The study also found that caregivers’ concerns were linked to family characteristics like their child’s age, the caregiver’s race or ethnicity, and how many children live in the home. Caregivers’ concerns also differed based on where they were getting help. Caregivers in mental health programs were more likely to worry about challenging behaviors like aggression. Caregivers in school settings were more likely to be concerned about their child’s social skills and repetitive behaviors. These findings help us better understand what caregivers worry about when seeking support for their child. The findings also show why it is important to use the right strategies in each setting to meet the specific needs of caregivers and their children.

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4. Conrad CE, Ziegler SMT, Bilenberg N, Christiansen J, Fagerlund B, Jakobsen RH, Jeppesen P, Kamp CB, Thomsen PH, Jakobsen JC, Lauritsen MB. Parent-mediated interventions versus usual care in children with autism spectrum disorders: A protocol for a systematic review with meta-analysis and Trial Sequential Analysis. PLoS One. 2025; 20(5): e0323798.

INTRODUCTION: Autism spectrum disorder encompasses diverse patterns of social communication and repetitive, restricted behaviours. Various interventions have been developed to reduce the negative consequences of this disorder and improve levels of functioning, and recently interest in parent-mediated interventions has increased. Previous reviews and meta-analyses have investigated the effects of the parent-mediated interventions, however; a systematic review with meta-analysis of high quality has not been performed since 2013. This protocol for a systematic review with meta-analysis aims to describe the methods and purpose of synthesising current evidence regarding the effects (both positive and adverse) of parent-mediated interventions in both children with autism and their parents. METHODS: Electronic searches will be conducted in Cochrane Central Register of Controlled Trials (CENTRAL), Medical Literature Analysis and Retrieval System Online (MEDLINE), Excerpta Medica database (EMBASE), Latin American and Caribbean Health Sciences Literature (LILACS), American Psychological Association PsycInfo (PsycInfo) and Science Citation Index Expanded (SCI-EXPANDED). Randomised clinical trials of parent-mediated interventions for children with autism and control groups of usual care, waiting list or no treatment will be included. Two reviewers will independently screen, select and collect data. Methodological quality of included studies will be evaluated using Cochrane methodology. The primary outcome will be autism symptom severity as measured by the Autism Diagnostic Observation Schedule. Secondary outcomes will be adaptive functioning, adverse effects, child language, child´s quality of life, parental quality of life and parental stress. Meta-analyses and Trial Sequential Analysis will be performed. DISCUSSION: This is the study protocol for a systematic review and meta-analysis of parent-mediated interventions versus usual care for children with ASD. Results of the review will inform clinicians and parents about the current evidence of the effects, both positive and negative, of parent-mediated interventions on younger children with autism and their parents, through improved methodology and inclusion of new studies. PROSPERO registration number: 385188.

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5. Dotzer M, Kachel U, Huhsmann J, Huscher H, Raveling N, Kugelmann K, Blank S, Neitzel I, Buschermöhle M, von Polier GG, Radeloff D. Identification of smile events using automated facial expression recognition during the Autism Diagnostic Observation Schedule (ADOS-2): a proof-of-principle study. Front Psychiatry. 2025; 16: 1497583.

INTRODUCTION: The diagnosis of autism spectrum disorder (ASD) is resource-intensive and associated with long waiting times. Digital screenings using facial expression recognition (FER) are a promising approach to accelerate the diagnostic process while increasing its sensitivity and specificity. The aim of this study is to examine whether the identification of smile events using FER in an autism diagnosis utilisation population is reliable. METHODS: From video recordings of children undergoing the Autism Diagnostic Observation Schedule (ADOS-2) due to suspected ASD, sequences showing smile and non-smile events were identified. It is being investigated whether the FER reliably recognizes smile events and corresponds to a human rating. RESULTS: The FER based on the facial action unit mouthSmile accurately identifies smile events with a sensitivity of 96.43% and a specificity of 96.08%. A very high agreement with human raters (κ = 0.918) was achieved. DISCUSSION: This study demonstrates that smile events can in principle be identified using FER in a clinical utilisation population of children with suspected autism. Further studies are required to generalise the results.

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6. Gu JL, Shangguan SF, Wang JH, Li JY, Xie H, Qu X, Peng N, Wang X, Xu Q, Zhu YK, Li XH, Sun XF, Chen XL, Wang L. [Clinical and genetic characteristics of SCN2A gene related developmental delay]. Zhonghua Yu Fang Yi Xue Za Zhi. 2025; 59(5): 667-76.

Objective: To explore the genotype and the clinical phenotype of SCN2A-related developmental delay in children. Methods: A case series study was adopted. Collect clinical data from 10 cases of children with SCN2A gene variants diagnosed with global developmental delay/intellectual disability who were admitted to the Children’s Hospital between July 2019 and March 2023. Summarize the clinical phenotype and genotype based on clinical data such as general information, clinical manifestations, imaging examinations, laboratory tests, genetic testing results, and comprehensive pediatric neuropsychological development assessment. Results: A total of 10 patients were recruited, including 7 males and 3 females, with an age range of 27 days to 5 years and 9 months. 9 patients underwent children’s neuropsychological and behavioral assessments, and the results were consistent with global developmental delay, including 2 mild cases, 4 moderate cases, and 3 severe cases. 3 cases had autism spectrum disorder, and 2 cases had epilepsy. 6 patients underwent complete head MRI examination, and 4 of them showed abnormalities, including delayed myelination, widening of the local extra brain space in the frontal lobe, and abnormal frontal lobe morphology. All 10 cases had point variants. Among them, 9 cases are de novo and 1 case is maternal inheritance. Out of 10 cases, there were 5 cases with copy number variations, but all of them were of unknown significance. Among the 10 variants, 8 have been reported and 2 have not been reported, namely c.4145A>T(p.N1382I) and c.4937T>A(p.I1646N). In this study, 4 out of 10 patients with SCN2A variants had variation sites located in the S4 segment of domain which constitute Nav1.2, the sodium ion channel encoded by SCN2A. The developmental quotient level was lower when the variation sites were located in the S4 segment of domain, and the difference was statistically significant (t=-3.101, P=0.017), indicating that the severity of developmental delay may be related to the localization of amino acids corresponding to variant sites within the protein domain. Conclusion: SCN2A mutations are strongly associated with diverse neurodevelopmental disorders. In this study, the phenotypic spectrum of SCN2A variants encompassed epilepsy, global developmental delay, and autism spectrum disorder. Affected individuals exhibited early-onset developmental delays, predominantly moderate to severe in severity. Voltage-sensing domain dysfunction in sodium channels may constitute a critical pathomechanism underlying neurodevelopmental impairments. Further electrophysiological characterization and molecular mechanistic studies are warranted todelineate the genotype-phenotype correlations between specific variant loci and clinical severity.

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7. Jibon MDK, Islam MA, Hosen ME, Faruqe MO, Zaman R, Acharjee UK, Sikdar B, Tiruneh YK, Khalekuzzaman M, Jawi M, Zaki MEA. In-silico analysis of deleterious non-synonymous SNPs in the human AVPR1a gene linked to autism. BMC Genomics. 2025; 26(1): 492.

Single nucleotide polymorphisms are the most prevalent type of DNA variation occurring at a single nucleotide within the genomic sequence. The AVPR1a gene exhibits genetic polymorphism and is linked to neurological and developmental problems, including autism spectrum disorder. Due to the difficulties of studying all non-synonymous single nucleotide polymorphisms (nsSNPs) of the AVPR1a gene in the general population, our goal is to use a computational approach to identify the most detrimental nsSNPs of the AVPR1a gene. We employed several bioinformatics tools, such as SNPnexus, PROVEAN, PANTHER, PhD-SNP, SNP & GO, and I-Mutant2.0, to detect the 23 most detrimental mutants (R85H, D202N, E54G, H92P, D148Y, C203G, V297M, D148V, S182N, Q108L, R149C, G212V, M145T, G212S, Y140S, F207V, Q108H, W219G, R284W, L93F, P156R, F136C, P107L). Later, we used other bioinformatics tools to perform domain and conservation analysis. We analyzed the consequences of high‑risk nsSNPs on active sites, post-translational modification (PTM) sites, and their functional effects on protein stability. 3D modeling, structure validation, protein-ligand binding affinity prediction, and Protein-protein docking were conducted to verify the presence of five significant substitutions (R284W, Y140S, P107L, R149C, and F207V) and explore the modifications induced due to these mutants. These non-synonymous single nucleotide polymorphisms can potentially be the focus of future investigations into various illnesses caused by AVPR1a malfunction. Employing in-silico methodologies to evaluate AVPR1a gene variants will facilitate the coordination of extensive investigations and the formulation of specific therapeutic approaches for diseases associated with these variations.

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8. Kwon J, Kotani H. Quantifying Body Motion Synchrony in Autism Spectrum Disorder Using a Phase Difference Detection Algorithm: Toward a Novel Behavioral Biomarker. Diagnostics (Basel). 2025; 15(10).

Background/Objectives: Nonverbal synchrony-the temporal coordination of physical behaviors such as head movement and gesture-is a critical component of effective social communication. Individuals with autism spectrum disorder (ASD) are often described as having impairments in such synchrony, but objective and scalable tools to measure these disruptions remain limited. This study aims to assess body motion synchrony in ASD using phase-based features as potential markers of social timing impairments. Methods: We applied a phase difference detection algorithm to high-resolution triaxial accelerometer data obtained during structured, unidirectional verbal communication. A total of 72 participants (36 typically developing TD-TD and 36 TD-ASD) were divided into dyads. ASD participants always assumed the listener role, enabling the isolation of receptive synchrony. Four distribution-based features-synchrony activity, directionality, variability, and coherence-were extracted from the phase difference data to assess synchrony dynamics. Results: Compared to the TD group, the ASD group exhibited significantly lower synchrony activity (ASD: 5.96 vs. TD: 9.63 times/min, p = 0.0008, Cohen’s d = 1.23), greater temporal variability (ASD: 384.4 ms vs. TD: 311.1 ms, p = 0.0036, d = 1.04), and reduced coherence (ASD: 0.13 vs. TD: 0.81, p = 0.036, d = 0.73). Although the mean phase difference did not differ significantly between groups, the ASD group displayed weaker and more irregular synchrony patterns, indicating impaired temporal stability. Conclusions: Our findings highlight robust impairments in nonverbal head motion synchrony in ASD, not only in frequency but also in terms of temporal stability and convergence. The use of phase-based synchrony features provides a continuous, high-resolution, language-independent metric for social timing. These metrics offer substantial potential as behavioral biomarkers for diagnostic support and intervention monitoring in ASD.

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9. Maleki A, Behmanesh H, Jenabi E. The Association between Prenatal Antibiotic Use and the Risk of Autism Spectrum Disorders among Children: An Updated Meta-Analysis. Curr Pediatr Rev. 2025.

OBJECTIVE: Studies on prenatal antibiotic use and Autism Spectrum Disorder (ASD) risk have yielded inconsistent results. AIM: This study aimed to resolve these discrepancies by conducting a meta-analysis on the relationship between prenatal antibiotic use and ASD in children. METHOD: A comprehensive search was conducted in three main databases: PubMed, Scopus, and Web of Science, up to August 1, 2024. The analysis employed random-effect models to estimate effect sizes, including hazard ratios (HR) and odds ratios (OR). Publication bias was assessed using Begg’s test and Egger’s regression test. Subgroup analyses explored variations in the association based on the trimester of pregnancy. The quality of the included studies was assessed using the Newcastle-Ottawa Scale (NOS). RESULTS: In this meta-analysis, which included twelve studies with a total population of 5,065,060, prenatal antibiotic use was associated with an increased risk of Autism Spectrum Disorder (ASD). The estimated HR for this risk was 1.08 (95% CI: 1.05, 1.12), and the OR was 1.16 (95% CI: 1.09, 1.23), with no detected heterogeneity among studies. The analysis found no publication bias. Significant associations were observed for each trimester: first trimester (HR: 1.11; 95% CI: 1.04, 1.18), second trimester (HR: 1.10; 95% CI: 1.06, 1.14), and third trimester (HR: 1.09; 95% CI: 1.01, 1.18). CONCLUSION: The analysis reveals a significant link between prenatal antibiotic use and an increased risk of ASD, with a consistently modest elevation in risk across all trimesters. Future research should focus on elucidating the mechanisms underlying this association by examining the effects of specific antibiotic classes, dosages, and timing during critical developmental periods. Longitudinal studies with comprehensive control for confounding factors are essential for strengthening causal inferences and guiding clinical recommendations regarding antibiotic use during pregnancy.

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10. Mohamed Z, Ponsonby AL, Wakhlu A, Thomson S, Love C, Symeonides C, Ranganathan S, O’Hely M, Vuillermin PJ, Drummond K. Infant sleep characteristics in children with autism spectrum disorder: a population-derived Australian birth cohort study. Arch Dis Child. 2025; 110(6): 471-9.

OBJECTIVES: To examine the prospective associations between infant sleep patterns and subsequent autism characteristics and diagnosis in a population-derived sample. DESIGN, SETTING AND PARTICIPANTS: Population-derived birth cohort study in Victoria, Australia’s Barwon region, with 1074 mother-infant pairs recruited from June 2010 to 2013. MAIN OUTCOME MEASURES: Infant sleep characteristics via the Brief Infant Sleep Questionnaire at 6 months (n=925) and 12 months (n=885). Parent-reported autism characteristics measured using the Child Behaviour Checklist for Ages 1½-5 (CBCL/1½-5; n=676) at 2 years and Strengths and Difficulties Questionnaire for report for ages 4-10 (SDQ/P4-10; n=791) at 4 years. Autism Diagnostic and Statistical Manual for Mental Disorders fifth edition (DSM-5) diagnoses (n=64) were confirmed by 11.5 years. RESULTS: At 6 months, each 10% increase (~1 hour) in night sleep duration was associated with fewer autism characteristics at 2 years (4.5% decrease, CBCL/1½-5) and 4 years (4.5% decrease, SDQ/P4-10) and 22% lower autism DSM-5 diagnosis odds by 11.5 years (adjusted mean difference (AMD): -0.02, 95% CI: -0.04 to -0.01; AMD: -0.02, 95% CI: -0.03 to -0.007; adjusted OR (AOR): 0.78, 95% CI: 0.65 to 0.94). At 12 months, each 25% increase in sleep latency (~5 min) was associated with more autism characteristics (1.5% increase, CBCL/1½-5, AMD: 0.006, 95% CI: 0.002 to 0.01) and 7.7% higher autism diagnosis odds (AOR: 1.08, 95% CI: 1.03 to 1.13). Among diagnosed school-aged children, 42% used melatonin in the past month. CONCLUSIONS: Poor infant sleep quality was linked to increased autism characteristics and diagnosis odds in a population-derived Australian sample. The extent to which this reflects common determinants of poor sleep and autism is not known. These findings suggest early monitoring of sleep issues as a potential autism indicator.

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11. Moreira C, Simões C, Oliveira A, Pereira A, Rosário P, Hagiwara M, Shogren KA, Santos S. The Factor Structure of the Self-Determination Inventory Portuguese Translation for Persons With and Without Intellectual and Developmental Disabilities: A Confirmatory Analysis. J Intellect Disabil Res. 2025.

BACKGROUND: Self-determination has seen increasing interest in literature worldwide, in terms of its contextualisation, operationalisation and assessment. Developing sound and robust instruments will enable valid assessment both within individual countries and in cross-cultural comparisons. METHODS: The new Self-Determination Inventory (SDI) was translated and adapted into Portuguese, for people with intellectual and developmental disabilities (IDD) and our goal was to analyse the SDI Portuguese Translation’s factorial structure. The inventory was administered to 408 participants, between 13 and 73 years old (27 ± 13.6), 246 females and 162 males, with (n = 146) and without IDD (n = 262). Factor structure, measurement invariance and latent difference between persons with and without IDD were analysed. RESULTS: The confirmatory factor analysis supported the SDI Portuguese Translations’ psychometric properties. The data fit a unidimensional model, indicating that the 21 items represent the construct better than a three-factor model. The measurement invariance across groups confirms that the latent construct can be measured and the assessment used with both groups. However, participants with IDD experience greater variability in scores and tend to report lower levels of self-determination. CONCLUSIONS: Findings provide support for the use of SDI Portuguese Translation for persons with and without IDD. Implications for research and practice are discussed.

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12. Mossa A, Dierdorff L, Lukin J, Garcia-Forn M, Wang W, Mamashli F, Park Y, Fiorenzani C, Akpinar Z, Kamps J, Tatzelt J, Wu Z, De Rubeis S. Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X. Nat Commun. 2025; 16(1): 4512.

DDX3X is an X-linked RNA helicase that escapes X chromosome inactivation and is expressed at higher levels in female brains. Mutations in DDX3X are associated with intellectual disability (ID) and autism spectrum disorder (ASD) and are predominantly identified in females (DDX3X syndrome). Using cellular and mouse models, we show that Ddx3x mediates sexual dimorphisms in brain development at a molecular, cellular, and behavioral level. During cortical neuronal development, Ddx3x sustains a female-biased signature of enhanced ribosomal biogenesis and mRNA metabolism. Compared to male neurons, female neurons display larger nucleoli, higher expression of a set of ribosomal proteins, and a higher cytoplasm-to-nucleus ratio of ribosomal RNA. All these sex dimorphisms are obliterated by Ddx3x loss. Ddx3x regulates dendritic arborization complexity in a sex- and dose-dependent manner in both female and male neurons. Ddx3x modulates the development of dendritic spines but only in female neurons. Further, ablating Ddx3x conditionally in forebrain neurons is sufficient to yield sex-specific changes in developmental outcomes and motor function. Together, these findings pose Ddx3x as a mediator of sexual differentiation during neurodevelopment and open new avenues to understand sex differences in health and disease.

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13. Nicolardi V, Fanizza I, Accogli G, Scoditti S, Trabacca A. Pain perception in autism. A study of sensory reactivity in children and adolescents with autism using quantitative sensory testing and psychophysiological correlates. Front Neurosci. 2025; 19: 1543538.

BACKGROUND: Hyper- or hypo-reactivity to sensory input is a diagnostic criterion for autism spectrum disorder; however, it is still not fully characterized, despite its relevance to patients’ quality of life. When considering neurodevelopment, sensory reactivity in autism is often assessed through parental reports, with only a few pieces of evidence acquired using standardized protocols. Quantitative sensory testing (QST) is a standardized protocol used to quantify sensory function by assessing perceptive and pain thresholds with calibrated sensory stimuli. To date, only a few studies have used QST to investigate sensory reactivity in autism, with only one taking into account adolescents and none including children in the sample. METHODS: We aimed to study pain perception and in children diagnosed with autism using the QST protocol. Moreover, we sought to measure central reactivity to painful stimuli by recording electroencephalographic (EEG) responses to painful thermal stimuli to explore the relationship between subjective reactivity (i.e., reactions to sensory stimuli) and central processing of sensory stimuli (i.e., EEG responses). Finally, we aimed to explore the relationship between parents’ reports, subjective reports, and EEG responses. DISCUSSION: This study will help to expand our previous knowledge concerning the sensory profile of children and adolescents with autism. Deepening our understanding of the relationship between perceptive thresholds in children with autism and the reactivity of the central nervous system, could help us understand the causal mechanism of the perceptual differences observed in autism. STUDY PROTOCOL IDENTIFIER: NCT06659731.

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14. Nijhof D, Sosenko F, Ward LM, Cairns D, Hughes L, Rydzewska E. Making a Case for an Autism-Specific Multimorbidity Index: A Comparative Cohort Study. J Autism Dev Disord. 2025.

Autistic people experience challenges in healthcare, including disparities in health outcomes and multimorbidity patterns distinct from the general population. This study investigated the efficacy of existing multimorbidity indices in predicting COVID- 19 mortality among autistic adults and proposes a bespoke index, the ASD-MI, tailored to their specific health profile. Using data from the CVD-COVID-UK/COVID-IMPACT Consortium, encompassing England’s entire population, we identified 1,027 autistic adults hospitalized for COVID- 19, among whom 62 died due to the virus. Predictors were selected using logistic regression with fivefold cross-validation, comparing AUCs amongst multimorbidity indices. Diabetes, coronary heart disease, and thyroid disorders were selected as predictors for the ASD-MI, outperforming the Quan Index, a general population-based measure, with an AUC of 0.872 versus 0.828, respectively. Notably, the ASD-MI exhibited better model fit (pseudo-R2 0.25) compared to the Quan Index (pseudo-R2 0.20). These findings underscore the need for tailored indices in predicting mortality risks among autistic individuals. However, caution is warranted in interpreting results, given the limited understanding of morbidity burden in this population. Further research is needed to refine autism-specific indices and elucidate the complex interplay between long-term conditions and mortality risk, informing targeted interventions to address health disparities in autistic adults. This study highlights the importance of developing healthcare tools tailored to the unique needs of neurodivergent populations to improve health outcomes and reduce disparities.

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15. Paditz E, Renner B, Koch R, Schneider BM, Schlarb AA, Ipsiroglu OS. The Pharmacokinetics, Dosage, Preparation Forms, and Efficacy of Orally Administered Melatonin for Non-Organic Sleep Disorders in Autism Spectrum Disorder During Childhood and Adolescence: A Systematic Review. Children (Basel). 2025; 12(5).

Background: To date, it remains unclear which oral doses and preparation forms of melatonin should be recommended for children and adolescents with non-organic sleep disorders and autism spectrum disorder (ASD). We reviewed the current state of knowledge on this topic based on randomised placebo-controlled trials (RCTs) and diagnosis-related blood melatonin concentrations available in this age group. Method: Two investigators independently searched PubMed, PsycINFO, MEDLINE, and Cochrane CENTRAL on 1 March 2025 for the keywords « melatonin », « autism », and « randomised » in titles and abstracts in all languages, including an evaluation of the references of the reviews, systematic reviews, and meta-analyses published up to that date, some of which were based on searches in numerous databases. Based on this, additional in-depth searches were carried out in PubMed for pharmacokinetic, physiological, and pathophysiological data on melatonin in children and adolescents, with a special focus on ASD. Results: To date, five RCTs on non-organic sleep disorders in children and adolescents with the sole diagnosis of ASD or with subgroup analyses in the presence of several initial diagnoses such as ADHD, epilepsy, Smith-Magenis, or Fragile X syndrome are available. In these studies, rapid-release, non-delayed preparations were administered orally. In one of these studies, the clinical efficacy of a combination preparation with a sustained-release and a non-released active substance component was tested. Pharmacokinetic data with multiple determinations of melatonin concentrations in the blood are only available for children with ASD in the form of a case series (N = 9). Discussion: RCTs comparing the efficacy of delayed melatonin preparations with non-delayed rapid-release oral preparations are not yet available. Physiological data and clinical effects documented in five RCTs indicate that non-delayed melatonin preparations with an initial rapid onset of action are effective for non-organic sleep disorders in children and adolescents with ASD. Conclusions: From a clinical, pharmacokinetic, and physiological point of view, the RCTs available to date and the data on melatonin concentrations in the blood of children with ASD, measured several times over 24 h, suggest that a low oral melatonin dose and a non-delayed preparation with rapid onset should be started in children and adolescents with non-organic sleep disorders in ASD, if sleep hygiene advice and psychotherapeutic interventions have not demonstrated sufficient effects.

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16. Pereira T, Lopes AC, Ramalho AM, Lousada M. Psychometric Properties of the Standardised Instruments that are Used to Measure (Pragmatic) Intervention Effects in Autistic Children: A Systematic Review. Autism Dev Lang Impair. 2025; 10: 23969415251341251.

BACKGROUND AND AIMS: Pragmatic language difficulties can negatively influence the learning, socialization, and mental health of children diagnosed with autism spectrum disorder (ASD). Several studies have sought to determine the effects of interventions, including competencies to help these children use language for social purposes. However, are the instruments used to measure the results of the interventions appropriate and psychometrically adequate? This systematic review aims to analyze the psychometric properties of the standardized instruments that are used to measure the effects of interventions addressing (not exclusively, but also) pragmatic language competencies for autistic children. METHOD: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, systematic literature research was carried out in four electronic indexing databases: CENTRAL, PubMed, Web of Science, and Scopus. RESULTS: A total of 49 studies from 2005 to 2023 were included and 19 standardized instruments were identified. CONCLUSIONS: After analyzing the instruments psychometric properties, the results indicated that all present some evidence of validity and reliability, but none report responsiveness. Implications: Given the impact that an instrument can have on analyzing the effects of an intervention, this study highlights the importance of considering not only the validity and reliability of an instrument but also responsiveness as a psychometric property, and the need to better describe the rationale for the outcome measures and specify what abilities are being targeted and measured. This will accurately guide future research and improve clinical decision-making around ASD.

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17. Peristeri E, Drakoulaki K, Boznou A, Nerantzini M, Varlokosta S. Linguistic Markers of Autism Spectrum Disorder in Narrative Production: Evidence From the Monkey Cartoon Storytelling Task of the Autism Diagnostic Observation Schedule. Autism Dev Lang Impair. 2025; 10: 23969415251331045.

BACKGROUND AND AIMS: The Autism Diagnostic Observation Schedule (ADOS-2) is considered a « gold standard » diagnostic instrument in the assessment of autism spectrum disorder (ASD). The Monkey Cartoon task is an optional pictured storytelling task in ADOS-2, which has been designed to assess gestural and verbal communication in autistic children while telling a story. It is well established that storytelling is challenging for autistic children, particularly for the content and coherent organization of the story, also known as narrative macrostructure. Existing evidence on the efficacy of the Monkey Cartoon task to pinpoint differences between autistic and neurotypical individuals in narrative macrostructure is scant. In this study, we used a version of the Monkey Cartoon task with modified scoring to analyze the narrative macrostructural skills of two groups of children with and without ASD. We also investigated the relations between narrative macrostructure and language ability in each group. METHODS: A group of 16 Greek-speaking autistic children and 16 age- and IQ-matched neurotypical children were administered the Monkey Cartoon storytelling task. Children’s vocabulary and syntactic skills were also measured. Narratives were analyzed in terms of macrostructural features, including story completeness and story grammar, as well as units denoting the setting, internal responses and added details. RESULTS: The autistic children had lower scores in communicating the story content rather than story grammar. Moreover, the autistic group tended to include less information on the story’s setting and more off-topic utterances than their neurotypical peers. Regarding the relations between narrative macrostructure and language ability, the two groups dissociated since the autistic children tended to rely on vocabulary at the expense of including irrelevant information in their narratives, while neurotypical children relied on both lexical and syntactic skills, especially when instantiating references to the story characters’ mental states and the setting of the story, respectively. CONCLUSIONS: The Monkey Cartoon storytelling task seems to be efficient at revealing pragmatic weaknesses mainly at the thematic content level in autistic children. Also, the frequent use of semantically- and pragmatically-irrelevant information in storytelling differentiated autistic from neurotypical children, and may thus be treated as a distinguishing feature of ASD in narrative production. IMPLICATIONS: The findings demonstrate the viability of the Monkey Cartoon task in highlighting language markers of ASD in narrative macrostructure, with clinical implications for enhancing clinical practice in countries like Greece that face a shortage of narrative assessment tools for autistic children.

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18. Rashid N, Darer JD, Ruetsch C, Yang X. Aspiration, respiratory complications, and associated healthcare resource utilization among individuals with Rett syndrome. Orphanet J Rare Dis. 2025; 20(1): 232.

BACKGROUND: Individuals with Rett syndrome (RTT) are at high risk for aspiration and also experience high rates of lower respiratory tract infections (LRTI) and respiratory failure (RF). METHODS: A retrospective comparative cohort analysis was performed among 89 individuals with RTT with and without evidence of aspiration, using EHR structured and abstracted clinical notes data. Individuals with known or suspected aspiration (per clinical documentation) (cases) were compared to controls on aspiration risk factors, RF, LRTI, and hospitalization. RESULTS: Of eligible individuals, 25 (28.1%) were aspiration cases. The cumulative rate of RF among RTT individuals with and without aspiration was 60.0% and 6.3%, respectively. Aspiration cases were more likely to have risk factors compared to controls during the 6-month baseline including epilepsy (54.5% vs. 4.5%), dysphagia (40.9% vs. 0%), GERD (31.8% vs. 0.0%), scoliosis (31.8% vs. 4.5%), and vomiting (18.2% vs. 0.0%). Aspiration cases were more likely to have LRTI (50% vs. 5.0%) and ≥ 1 inpatient admissions than non-aspiration controls (75.0% vs. 35.0%) (all p < 0.05). CONCLUSIONS: Individuals with RTT with known or suspected aspiration are at increased risk of LRTI, RF, and inpatient admissions. Providers should monitor aspiration and institute preventative measures among individuals with aspiration risk factors even in the absence of aspiration symptoms.

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19. Ren Y, Ma Z, Ding Z, Yang R, Li X, He X, Liu T. SFPGCL: Specificity-preserving federated population graph contrastive learning for multi-site ASD identification using rs-fMRI data. Comput Med Imaging Graph. 2025; 124: 102558.

Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder that affects people’s social communication and daily routine. Most existing imaging studies on ASD use single site resting-state functional magnetic resonance imaging (rs-fMRI) data, which may suffer from limited samples and geographic bias. Improving the generalization ability of the diagnostic models often necessitates a large-scale dataset from multiple imaging sites. However, centralizing multi-site data generally faces inherent challenges related to privacy, security, and storage burden. Federated learning (FL) can address these issues by enabling collaborative model training without centralizing data. Nevertheless, multi-site rs-fMRI data introduces site variations, causing unfavorable data heterogeneity. This negatively impacts biomarker identification and diagnostic decision. Moreover, previous FL approaches for fMRI analysis often ignore site-specific demographic information, such as age, gender, and full intelligence quotient (FIQ), providing useful information as non-imaging features. On the other hand, Graph Neural Networks (GNNs) are gaining popularity in fMRI representation learning due to their powerful graph representation capabilities. However, existing methods often focus on extracting subject-specific connectivity patterns and overlook inter-subject relationships in brain functional topology. In this study, we propose a specificity-preserving federated population graph contrastive learning (SFPGCL) framework for rs-fMRI analysis and multi-site ASD identification, including a server and multiple clients/sites for federated model aggregation. At each client, our model consists of a shared branch and a personalized branch, where parameters of the shared branch are sent to the sever, while those of the personalized branch remain local. This setup facilitates invariant knowledge sharing among sites and also helps preserve site specificity. In the shared branch, we employ a spatio-temporal attention graph neural network to learn temporal dynamics in fMRI data invariant to each site, and introduce a model-contrastive learning method to mitigate client data heterogeneity. In the personalized branch, we utilize population graph structure to fully integrate demographic information and functional network connectivity to preserve site-specific characteristics. Then, a site-invariant population graph is built to derive site-invariant representations based on the dynamic representations acquired from the shared branch. Finally, representations generated by the two branches are fused for classification. Experimental results on Autism Brain Imaging Data Exchange (ABIDE) show that SFPGCL achieves 80.0 % accuracy and 79.7 % AUC for ASD identification, which outperforms several other state-of-the art approaches.

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

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

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21. Shafer RL, Bartolotti J, Driggers A, Bojanek E, Wang Z, Mosconi MW. Visual feedback and motor memory contributions to sustained motor control deficits in autism spectrum disorder across childhood and into adulthood. J Neurodev Disord. 2025; 17(1): 26.

BACKGROUND: Autistic individuals show deficits in sustained fine motor control which are associated with an over-reliance on visual feedback. Motor memory deficits also have been reported during sustained fine motor control in autism spectrum disorders (ASD). The development of motor memory and visuomotor feedback processes contributing to sustained motor control issues in ASD are not known. The present study aimed to characterize age-related changes in visual feedback and motor memory processes contributing to sustained fine motor control issues in ASD. METHODS: Fifty-four autistic participants and 31 neurotypical (NT) controls ages 10-25 years completed visually guided and memory guided sustained precision gripping tests by pressing on force sensors with their dominant hand index finger and thumb. For visually guided trials, participants viewed a stationary target bar and a force bar that moved upwards with increased force for 15s. During memory guided trials, the force bar was visible for 3s, after which participants attempted to maintain their force output without visual feedback for another 12s. To assess visual feedback processing, force accuracy, variability (standard deviation), and regularity (sample entropy) were examined. To assess motor memory, force decay latency, slope, and magnitude were examined during epochs without visual feedback. RESULTS: Relative to NT controls, autistic individuals showed a greater magnitude and a trend for a steeper slope of force decay during memory guided trials. Across conditions, the ASD group showed reduced force accuracy (β = 0.41, R(2) = 0.043, t(79.3)=2.36, p = .021) and greater force variability (β=-2.16, R(2) = 0.143, t(77.1)=-4.04, p = .0001) and regularity (β=-0.52, R(2) = 0.021, t(77.4)=-2.21, p = .030) relative to NT controls at younger ages, but these differences normalized by adolescence (age x group interactions). Lower force accuracy and greater force variability during visually guided trials and steeper decay slope during memory guided trials were associated with overall autism severity. CONCLUSIONS: Our findings that autistic individuals show a greater magnitude and tendency for a greater rate of force decay than NT individuals following the removal of visual feedback indicate that motor memory deficits contribute to fine motor control issues in ASD. Findings that sensorimotor differences in ASD were specific to younger ages suggest delayed development across multiple motor control processes.

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22. Shazman S, Carmel J, Itkin M, Malitsky S, Shalan M, Soreq E, Elliott E, Lebow M, Kuperman Y. Urine Metabolomic Profiling and Machine Learning in Autism Spectrum Disorder Diagnosis: Toward Precision Treatment. Metabolites. 2025; 15(5).

BACKGROUND: Autism spectrum disorder (ASD) diagnosis traditionally relies on behavioral assessments, which can be subjective and often lead to delayed identification. Recent advances in metabolomics and machine learning offer promising alternatives for more objective and precise diagnostic approaches. METHODS: First-morning urine samples were collected from 52 children (32 with ASD and 20 neurotypical controls), aged 5.04 ± 1.87 and 5.50 ± 1.74 years, respectively. Using liquid chromatography-mass spectrometry (LC-MS), 293 metabolites were identified and categorized into 189 endogenous and 104 exogenous metabolites. Various machine learning classifiers (random forest, logistic regression, random tree, and naïve Bayes) were applied to differentiate ASD and control groups through 10-fold cross-validation. RESULTS: The random forest classifier achieved 85% accuracy and an area under the curve (AUC) of 0.9 using all 293 metabolites. Classification based solely on endogenous metabolites yielded 85% accuracy and an AUC of 0.86, whereas using exogenous metabolites alone resulted in lower performance (71% accuracy and an AUC of 0.72). CONCLUSION: This study demonstrates the potential of urine metabolomic profiling, particularly endogenous metabolites, as a complementary diagnostic tool for ASD. The high classification accuracy highlights the feasibility of developing assistive diagnostic methods based on metabolite profiles, although further research is needed to link these profiles to specific behavioral characteristics and ASD subtypes.

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23. Shen L, Chen L, Tang Y, Yan Y, Xiong T, Liu Y, Li H, Gu H. PRRG4 Brain-Specific Conditional Knockout Mice Display Autism Spectrum Disorder-Like Behaviors. Biol Proced Online. 2025; 27(1): 16.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized primarily by social deficits and repetitive behaviors. The mechanisms of ASD are complex and are not yet fully understood, although many ASD risk genes and mouse models have been reported. It has been suggested that deletion of PRRG4 (proline-rich and Gla domain 4) deletion may contribute to autism symptoms in patients with WAGR (Wilms’ tumor, aniridia, gonadoblastoma, mental retardation) syndrome. The mouse model with PRRG4 gene deletion has not been reported so far. This study investigated whether brain-specific conditional knockout of PRRG4 induces ASD-like symptoms in mice by crossing the PRRG4(fl/fl) mice with Emx1-Cre mice, which express Cre in the cerebral cortex and hippocampus. RESULTS: The PRRG4 brain-specific knockout (PRRG4(fl)/(fl)-Cre(+), PRRG4-CKO) mice exhibited social deficits, repetitive behaviors, and anxiety-like symptoms compared to PRRG4(fl/fl) control mice according to the results of various behavioral tests. PRRG4 knockout led to the increase in total dendritic length, branching, and dendritic spine density in the pyramidal neurons of the cerebral cortex and hippocampus, as well as enhanced levels of synaptic proteins including SYP and PSD95. Immunoprecipitation experiment with PRRG4 antibodies showed dramatic decreased interaction of PRRG4 and MAGI2 proteins in brain tissues from PRRG4-CKO mice compared to PRRG4(fl/fl) control mice. GST-RBD pull-down assay showed a significant decrease in RhoA-GTP levels in the cerebral cortex and hippocampus of PRRG4-CKO mice. CONCLUSIONS: Brain-specific conditional knockout of the PRRG4 in mice leads to ASD-like symptoms. PRRG4 protein may regulate dendritic and synaptic development in mice by activating RhoA through interaction with MAGI2. These findings provide evidence for a comprehensive understanding of PRRG4 function in vivo and support the association between PRRG4 loss and ASD phenotypes observed in WAGR syndrome.

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24. Soares T, Coelho Santos J, Couto D. Puberty-Onset Selective Mutism in a Female Adolescent With Autism Spectrum Disorder. Cureus. 2025; 17(4): e82280.

Selective mutism (SM) is a rare anxiety disorder typically diagnosed in early childhood. It is characterized by a persistent failure to speak in specific social situations despite having the ability to verbalize in others. Although the onset of SM during adolescence is uncommon, its emergence during puberty or major life transitions may reflect an atypical form of anxiety that is more frequently observed in individuals with autism spectrum disorder (ASD). We describe a case of an 11-year-old girl who developed SM following the onset of puberty and significant environmental changes, including school transition and relocation. She was subsequently diagnosed with ASD. A multidisciplinary treatment approach involving cognitive behavioral therapy, fluoxetine, and pregabalin led to complete remission of SM and marked improvements in academic and social functioning. This case underscores the importance of recognising atypical anxiety presentations in adolescents with ASD and highlights the value of early, individualized, and multimodal interventions. It also raises ethical considerations regarding the temporary use of covert medication in cases with severe resistance to treatment.

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25. Swarup G, Andreae S, Pickett K, Columna L. Exploring yoga attitudes and social influences among mothers of autistic children through the theory of planned behavior. Disabil Health J. 2025: 101852.

BACKGROUND: Mothers of autistic children face physiological and psychological health concerns and encounter significant barriers to engaging in health-enhancing behaviors. While yoga may improve physical and emotional well-being in parents with children with disabilities, research on yoga programs designed specifically for mothers of autistic children remains limited. Developing accessible and motivating yoga interventions requires an understanding of attitudes toward yoga within this population. OBJECTIVE: The purpose of this study was to explore the attitudes of mothers of autistic children toward yoga and investigate how yoga was perceived within their social environment. METHODS: The Theory of Planned Behavior guided this descriptive-qualitative study, in which participants were mothers (N = 12) of autistic children aged 3-22 years. Data were collected through semi-structured interviews, transcribed verbatim, and analyzed using line-by-line thematic analysis. RESULTS: Three major themes were constructed: (1) Positive beginnings with yoga; (2) Yoga’s impact on holistic well-being; and (3) Influence of social circles on yoga attitudes. CONCLUSIONS: Mothers expressed positive attitudes towards yoga, influenced by their past experiences and perceived benefits. Yoga was positively regarded within mothers’ social networks, which reinforced their attitudes. Despite positive attitudes and supportive subjective norms, most mothers were not actively practicing yoga. This suggests the need to explore potential barriers, which may restrict mothers’ participation in yoga.

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26. Takyi E, Nirmalkar K, Adams J, Krajmalnik-Brown R. Interventions targeting the gut microbiota and their possible effect on gastrointestinal and neurobehavioral symptoms in autism spectrum disorder. Gut Microbes. 2025; 17(1): 2499580.

Autism spectrum disorder (ASD) is a developmental disorder that is characterized by deficits in social communication and restricted, repetitive, and stereotyped behaviors. In addition to neurobehavioral symptoms, children with ASD often have gastrointestinal symptoms (e.g. constipation, diarrhea, gas, abdominal pain, reflux). Several studies have proposed the role of gut microbiota and metabolic disorders in gastrointestinal symptoms and neurodevelopmental dysfunction in ASD patients; these results offer promising avenues for novel treatments of this disorder. Interventions targeting the gut microbiota – such as fecal microbiota transplant (FMT), microbiota transplant therapy (MTT), probiotics, prebiotics, synbiotics, antibiotics, antifungals, and diet – promise to improve gut health and can potentially improve neurological symptoms. The modulation of the gut microbiota using MTT in ASD has shown beneficial and long-term effects on GI symptoms and core symptoms of autism. Also, the modulation of the gut microbiota to resemble that of typically developing individuals seems to be the most promising intervention. As most of the studies carried out with MTT are open-label studies, more extensive double-blinded randomized control trials are needed to confirm the efficacy of MTT as a therapeutic option for ASD. This review examines the current clinical research evidence for the use of interventions that target the microbiome – such as antibiotics, antifungals, probiotics/prebiotics, synbiotics, and MTT – and their effectiveness in changing the gut microbiota and improving gastrointestinal and neurobehavioral symptoms in ASD.

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27. Tutak K, Broniarek I, Zielezinski A, Niewiadomska D, Skrzypczak T, Baud A, Sobczak K. Insufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditions. Elife. 2025; 13.

Expansion of CGG repeats (CGGexp) in the 5′ untranslated region (5’UTR) of the FMR1 gene underlies the fragile X premutation-associated conditions including tremor/ataxia syndrome, a late-onset neurodegenerative disease and fragile X-associated primary ovarian insufficiency. One common pathomechanism of these conditions is the repeat-associated non-AUG-initiated (RAN) translation of CGG repeats of mutant FMR1 mRNA, resulting in production of FMRpolyG, a toxic protein containing long polyglycine tract. To identify novel modifiers of RAN translation we used an RNA-tagging system and mass spectrometry-based screening. It revealed proteins enriched on CGGexp-containing FMR1 RNA in cellulo, including a ribosomal protein RPS26, a component of the 40 S subunit. We demonstrated that depletion of RPS26 and its chaperone TSR2, modulates FMRpolyG production and its toxicity. We also found that the RPS26 insufficiency impacted translation of limited number of proteins, and 5’UTRs of mRNAs encoding these proteins were short and guanosine and cytosine-rich. Moreover, the silencing of another component of the 40 S subunit, the ribosomal protein RPS25, also induced repression of FMRpolyG biosynthesis. Results of this study suggest that the two 40 S ribosomal proteins and chaperone TSR2 play an important role in noncanonical CGGexp-related RAN translation.

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28. Ventura M, Manippa V, Caffò AO, Cicinelli G, Nobile E, Keller R, Rivolta D. Unveiling Face Recognition Challenges and Awareness in Autism Spectrum Disorder: Insights from the Italian Famous Face Test (IT-FFT). J Autism Dev Disord. 2025.

Accurate face recognition is crucial for navigating social interactions. While neurotypical individuals generally show no issues with face processing, persons with Autism Spectrum Disorder (ASD) often exhibit impairments in this area. This study explores the extent of these face recognition deficits in autistic adults, focusing on their ability to identify famous faces, along with the awareness (metacognition) of their face recognition skills. Using the Italian Famous Face Test (IT-FFT) and the Prosopagnosia Index-20 (PI-20), to compare face recognition performance and self-awareness of face recognition abilities between 50 non-autistic and 49 individuals diagnosed with level 1 ASD. Autistic people had significantly lower face identification scores and greater difficulties recognizing famous faces than non-autistic participants. Additionally, autistic individuals reported more face recognition challenges on the PI-20, highlighting their awareness of these deficits. These findings suggest that face recognition impairments in ASD extend to famous faces and underscore the importance of further research to explore targeted interventions aimed at improving different aspects of face recognition in autistic people.

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29. Vivanti G, Roux AM, Robins DL, Wieckowski AT, Nahmais AS, Miller KK, Shea LL. Identifying and Addressing the Missing Links Between Research, Policy, and Practice in Autism Research: Lessons From Early Autism Screening and Intervention Research. Autism Res. 2025.

The evidence base on autism diagnosis and intervention has grown exponentially in the past two decades, but there continue to be gaps in the path connecting research, policy, and practice. For example, although standardized autism screening tools have been shown to be helpful for identifying early signs of autism and facilitating early diagnosis, many pediatricians in the United States do not use them as recommended. Similarly, despite the sound evidence supporting Naturalistic Developmental Behavioral Interventions, they are seldom used in early intervention practice. This commentary examines the nature of these gaps using the Exploration, Preparation, Implementation, Sustainment (EPIS) framework, with a focus on the role of « big P » policies, which include legislation and agency regulations, and « little p » policies, which include guidelines set by professional organizations. Efforts to bridge the gap between research and practice through policy offer the potential for improving the lives of those on the autism spectrum through early detection and intervention programs and beyond.

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30. Wu Z, Wu C, Chen X, Qian Q, Yao Z. Bidirectional Relationship Between Atopic Dermatitis and Psychiatric Comorbidities in Individuals of European Ancestry: A Mendelian Randomization Study. Acta Derm Venereol. 2025; 105: adv43133.

Atopic dermatitis is a chronic inflammatory skin disorder that significantly impacts quality of life and is often associated with psychiatric comorbidities. How-ever, the causal relationship between atopic dermatitis and psychiatric disorders remains unclear. This study employed bidirectional 2-sample Mendelian randomization to investigate the potential causal relationships between atopic dermatitis and 8 psychiatric conditions: depression, anxiety, autism spectrum disorder, attention deficit hyperactivity disorder, suicidality, bipolar disorder, obsessive-compulsive disorder, and schizophrenia. Genetic instruments were derived from large-scale genome-wide association studies of European ancestry. Forward Mendelian randomization analysis indicated that atopic dermatitis causally increases the risk of anxiety (inverse variance weighting p = 0.016; odds ratio = 1.110, 95% confidence interval: 1.019-1.208). Reverse Mendelian randomization analysis revealed a significant causal effect of bipolar disorder on increasing the risk of atopic dermatitis (inverse variance weighting p = 0.005; odds ratio = 1.062, 95% confidence interval: 1.018-1.107). No significant causal relationships were found for other psychiatric conditions. Sensitivity analyses confirmed the robustness of these findings, with no evidence of horizontal pleiotropy. These results highlight the need for integrated dermatological and psychiatric care, emphasizing early mental health screening for atopic dermatitis patients and dermatological evaluation for individuals with bipolar disorder. Future research should explore underlying biological mechanisms and validate findings across diverse populations.

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31. Zimmer L, Richardson H, Pletti C, Paulus M, Schuwerk T. Predictive responses in the Theory of Mind network: A comparison of autistic and non-autistic adults. Cortex. 2025; 187: 159-71.

Social cognitive processes, particularly Theory of Mind (ToM) reasoning, appear to differ between autistic and non-autistic individuals. This has been proposed to reflect the autistic core symptomatology of communication and social interaction difficulties. According to the predictive coding theory, autistic individuals’ ToM reasoning difficulties arise from an attenuated use of prior information about others’ mental states to explain and predict their behavior. This reduced use of prior assumptions makes the social world less predictable for autistic people, causing interactive mismatch and stress. Despite strong theoretical claims, robust and replicable neural differences in ToM brain regions remain elusive. Here, we investigated whether brain regions supporting ToM reasoning anticipate a narrative during repeated exposure (i.e., the narrative anticipation effect) in non-autistic adults (Experiment 1) and tested whether this effect was attenuated in autistic adults (Experiment 2). We presented a short movie with a plot including mental states with associated actions, twice, to 61 non-autistic adults who underwent functional magnetic resonance imaging [Experiment 1: M(SD)(age) = 25.9(4.4) years]. In Experiment 2, we used the same protocol with 30 autistic [M(SD)(age) = 32.4(10.7) years] and 30 non-autistic adults [M(SD)(age) = 33.2(10.1) years]. Analyses revealed no narrative anticipation effect in the ToM network in either group. Exploratory reverse correlation analyses identified a ToM scene that evoked a smaller difference in response between movie viewings (i.e., less repetition suppression) in autistic adults, compared to non-autistic adults. In sum, our study shows that predictive processing in the ToM network during a naturalistic movie-viewing experiment was absent in adults. Subtle differences in a key scene provide preliminary neural evidence for the predictive coding theory and open a promising avenue for future research to better understand the nature of differences in social interaction in autistic adults.

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32. Zotti L, Esposito D, Di Iorio G, Covuccia M, Orecchio S, Ferrara M, Conte G. Challenges to high-quality care in autism with functional somatic symptoms: A case-inspired narrative review and exploratory biopsychosocial model. Clin Child Psychol Psychiatry. 2025: 13591045251343692.

BackgroundChildren and adolescents with autism spectrum disorder (ASD) frequently experience functional somatic symptoms (FSS), although the underlying causes often remain unclear. Various biological and psychological factors, both individual and within families, such as alexithymia or health anxiety, can intensify these symptoms, sometimes resulting in excessive and unnecessary medical interventions.MethodsA narrative review of the literature was conducted, alongside the presentation of a case report involving a 13-year-old boy with ASD. The case illustrates how personal and familial factors can influence the presentation of FSS and the risks of inappropriate treatment.DiscussionThe findings suggest that psychological and familial factors play a significant role in the manifestation of FSS in ASD. These factors can increase the risk of unnecessary medicalization, as they often lead to misinterpretation of symptoms by caregivers and healthcare providers. The case report further underscores how the interaction of personal and familial dynamics can complicate the management of FSS. A comprehensive biopsychosocial approach that addresses both the individual and the family is crucial for managing FSS in ASD. Future research should focus on developing targeted interventions that address these psychological and familial influences to enhance the quality of care and reduce unnecessary and potentially harmful healthcare utilization in ASD. Barriers to Effective Healthcare for Autism with Physical Symptoms: A Holistic Approach: Children and adolescents with autism often experience physical symptoms like stomach aches or headaches, but doctors can struggle to find a medical reason for them. These are known as “functional somatic symptoms” (FSS), meaning the symptoms don’t stem from any physical disease. This can lead to unnecessary medical tests and treatments. The study highlights how factors such as family stress and difficulty understanding emotions (a condition called alexithymia) play a role in making these symptoms worse. A case report of a 13-year-old boy with autism is discussed, where the family was suspected of fabricating or exaggerating the boy’s symptoms, resulting in numerous hospital visits and invasive tests. However, the study shows that these suspicions may stem from a misunderstanding of the boy’s condition, emphasizing the need to assess both the emotional and family context when managing FSS in autism. By using a holistic biopsychosocial model, which takes into account the body, mind, and family environment, the study recommends that both the individual and family should be involved in the treatment plan. This approach can lead to better health outcomes and less strain on families. eng.

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