1. Bassett J, Sathiyamoorthy K, Horman A, Taylor G, Wu HYT, Dent S, Sharma R. Challenges in diagnosing hawkinsinuria in adulthood: 2 cases from a single family. BMJ Case Rep. 2025; 18(8).

Hawkinsinuria, caused by an autosomal dominant gain-of-function variant of 4-hydroxyphenylpyruvate dioxygenase resulting in accumulation of 2-L-cystein-S-yl-1,4-dihydroxy-cyclohex-5-en-1-yl acetic acid (hawkinsin) and tyrosine, typically presents in the neonatal period. Here we report the case of a female adult patient in her early 20s presenting with childhood developmental delay and dyspraxia. She was initially referred to neurology, where baseline imaging and biochemistry were unremarkable. She was subsequently investigated for metabolic disorders, and it was found that plasma organic acids and amino acids were indicative of hawkinsinuria. Furthermore, her mother, who was asymptomatic, was also diagnosed with hawkinsinuria following family screening. Management was conservative, with regular monitoring of tyrosine and phenylalanine levels. Dietary restriction may be considered if tyrosine is elevated or patients become symptomatic. To our knowledge, this is the first reported case of hawkinsinuria presenting symptomatically in an adult patient and the second case of an asymptomatic adult being diagnosed from genetic testing.

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2. Bauer Estrada K, Conde-Martínez N, Acosta-González A, Díaz-Barrera LE, Rodríguez-Castaño GP, Quintanilla-Carvajal MX. Corrigendum to « Synbioticsof encapsulated Limosilactobacillus fermentum K73 promotes in vitro favorable gut microbiota shifts and enhances short-chain fatty acid production in fecal samples of children with autism spectrum disorder » [Food Res. Int. 209 (2025) 116227]. Food Res Int. 2025; 218: 116997.

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3. Cai B, Miao Y, Zhao J, Ying X, Lin W. The Effect of Exercise Intervention on Cognitive Function and Quality of Life With Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. Actas Esp Psiquiatr. 2025; 53(4): 839-56.

BACKGROUND: Physical exercise may confer benefits on cognitive function and quality of life in children with autism spectrum disorder (ASD). However, the evidence has not been co mprehensively synthesized. This study aimed to investigate the effect of exercise intervention on cognitive function and quality of life with ASD, and provide evidence to support the scientific use of exercise interventions in practice. METHODS: We systematically searched major databases from inception to November 2023 for randomized trials and observational studies examining exercise interventions in children with ASD. Mean differences (MDs) with 95% confidence intervals (CIs) were calculated using random-effects models. Heterogeneity was assessed using the I2 statistic. Risk of bias was evaluated with the Cochrane tool. RESULTS: Fourteenth studies were included. Meta-analysis of 8 randomized trials found a small but significant effect of exercise on social communication (MD: 1.42, 95% CI: 0.21 to 2.6322, p = 0.02, I2 = 29%). The effect on social cognition was also significant (MD: 1.99, 95% CI: 0.18 to 3.80, p = 0.03, I2 = 0%). Influential analysis identified 2 studies as outliers. Leave-one-out analysis showed meta-analysis conclusions were robust. The included studies consistently demonstrated benefits of exercise on sleep, behavioral aspects, motor skills, quality of life, and other outcomes. CONCLUSIONS: This meta-analysis provides evidence that exercise interventions may improve core symptoms and functional outcomes in children with ASD. However, small sample sizes and heterogeneity indicate cautious interpretation. Further adequately powered trials are needed to establish optimal exercise programs for managing ASD.

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4. Cao X, Jia J, Li Z, Guo S, Duan J, Ma J, Yuan XB, Pan YH. Cadherin 11 regulates presynaptic vesicle trafficking and neuronal activity in autism-related brain circuit. Mol Psychiatry. 2025.

The molecular etiology of numerous risk genes for autism spectrum disorder (ASD), including Cadherin 11 (CDH11), remains elusive. We investigated the role of CDH11 in the development of ASD-related behaviors using gene-deficient mice. CDH11 is enriched at synapses in glutamatergic neurons of the anterior cingulate cortex (ACC), which project to the dorsal striatum, nucleus accumbens, and the basolateral amygdala. Developmental ablation of Cdh11 in these neurons led to increased self-grooming, reduced sociability, and decreased neuronal activity in the ACC. Chemogenetic inhibition of ACC glutamatergic neurons recapitulates the over-grooming phenotype, while activation of these neurons mitigates self-grooming in Cdh11-deficient mice. Moreover, targeted expression of CDH11 in the ACC of these mice significantly attenuated their over-grooming behaviors. Proteomics of ACC synaptosomes and CDH11 interactomes revealed that CDH11 participates in synaptic vesicle trafficking, as evidenced by a reduction in presynaptic vesicle density at excitatory synapses in Cdh11-deficient mice. These findings highlight an important role of CDH11 in the development of ASD-related brain circuits and provide insights into the molecular basis of repetitive behaviors in ASD.

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5. Çiftçi E, Sağlam N, Gözler T, Yüksel İ, Kilit N, Bozkurt İ, Konuk M, Ulucan K, Tarhan N. Could the Polymorphisms of DOCK4 (rs147636134), SYNGAP1 (rs199759879), and FOXP1 (rs767001715) be the Primary Risk Factors for Bipolar Disorder and Autism Spectrum Disorder?. Dev Neurobiol. 2025; 85(4): e22995.

Autism spectrum disorder (ASD) and bipolar disorder (BD) are psychiatric diseases that may overlap in common neurodevelopmental and genetic basis. Forkhead Box P1 (FOXP1), Synaptic Ras GTPase-activating protein 1 (SYNGAP1), and Dedicator of Cytokinesis 4 (DOCK4) genes are critical for synaptic plasticity, neuronal communication, and brain development. This study aims to investigate the association of FOXP1 (rs767001715), SYNGAP1 (rs199759879), and DOCK4 (rs147636134) polymorphisms with ASD and BD and to determine the effects of genetic variations on disease pathogenesis in the Turkish population. This study was conducted with a total of 200 participants, including 50 ASD patients, 50 BD patients, and 100 healthy controls. DNA was isolated from peripheral blood samples, and FOXP1, SYNGAP1, and DOCK4 polymorphisms were genotyped using real-time PCR. The distribution of genetic variants was compared between patient groups and healthy controls. The chi-square test was applied for statistical analyses. In terms of FOXP1 (rs767001715), SYNGAP1 (rs199759879), and DOCK4 (rs147636134) polymorphisms examined in the study, no statistically significant difference was found between the ASD and BD patient groups and the healthy control group (p > 0.05) in the Turkish population. In addition, it was determined that these variants had allele frequencies compatible with global population data. However, due to the limited sample size, these results cannot be generalized. Further large-scale population analyses and functional studies are needed to investigate the association of these genes with ASD and BD in more detail.

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6. Deng YY, Zhou X, Yin BY, Zou FY, Zhong SS, Luo XW, Shen LS, Fan Y, Guo RM. Neuroimaging biomarkers in school-aged children with autism: MRI-measured lipid content in the limbic system. J Child Psychol Psychiatry. 2025.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Alterations in brain lipids may elucidate ASD’s neurophysiological mechanisms, but evidence remains limited. This study aims to assess whether the MRI-measured lipid content in limbic brain regions could serve as novel biomarkers for neurophysiological changes in school-aged children with ASD. METHODS: This prospective study included 98 school-aged (7-16 years) children with ASD and 94 age- and gender-matched typically developing (TD) children, an age window selected based on established milestones of structural brain maturation. Lipid content in limbic regions was quantified via MRI-based proton density fat fraction (PDFF). Between-group differences, blood lipid correlations, and clinical scale associations were analyzed. In vitro validation and histopathology in ASD mice confirmed lipid quantification accuracy and deposits. Receiver operating characteristic (ROC) analyses evaluated diagnostic utility. RESULTS: Children with ASD exhibited significantly elevated MRI-measured lipid content in the bilateral fusiform gyrus (FUS) (p(fdr) < .01), with positive correlations observed between lipid content and total cholesterol (left hemisphere: r = .38, p < .01; right hemisphere r = .46, p < .01). Histopathological examination of BTBR mice brain sections stained with ammonium ferric sulfate revealed significant cholesterol deposits. Additionally, reduced lipid content in the bilateral caudal anterior cingulate cortex (cACC) (left hemisphere: p(fdr) < .01, right hemisphere: p(fdr) < .01) was found in children with ASD, and the lipid content of the right cACC was negatively correlated with impairments in social communication (r = -.32, p(fdr) = .04). Results of ROC analyses demonstrated that multimodal integration of bilateral FUS and cACC lipid contents yielded the highest AUC (0.89, 95% CI: 0.84-0.94). CONCLUSIONS: Alterations in the FUS and cACC underscore their roles in ASD neuropathology. These findings suggest that MRI-measured lipid levels of specific regions from the brain limbic system could serve as a biomarker for neurophysiological changes in school-aged children with ASD.

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7. English J, McSweeney D, Geng J, Howell E, Ribbe F, Hinderhofer M, Proskauer L, Sebastian R, Wang L, Sharf T, Pang ZP, Pak C. Distinct Synaptic Mechanisms Drive NRXN1 Variant-Mediated Pathogenesis in iPSC-Derived Neuronal Models of Autism and Schizophrenia. bioRxiv. 2025.

Copy number deletions in the 2p16.3/NRXN1 locus confer genome wide risk for autism spectrum disorder (ASD) and schizophrenia (SCZ). Prior work demonstrated that heterozygous NRXN1 deletions decreases synaptic strength and neurotransmitter release probability in human-iPSC derived cortical glutamatergic induced neurons and this synaptic phenotype is replicated in SCZ patient iPSCs with varying NRXN1 genomic deletions. What is unknown, however, is whether similar synaptic impairment exists in ASD patients carrying NRXN1 deletions. Answering this question is important to determine whether all NRXN1 deletion carriers should be treated similarly or individually, based on their genetic backgrounds and deletion breakpoints. Here, using previously uncharacterized ASD patient iPSC lines, we show that ASD-NRXN1 deletions impact cortical synaptic function and plasticity in unique ways compared to SCZ-NRXN1 deletions. Specifically, at a single neuronal level, ASD-NRXN1 deletions alter basal spontaneous synaptic transmission by selectively enhancing excitatory synaptic signaling with no changes at inhibitory synapses while SCZ-NRXN1 deletions reduce both excitatory and inhibitory synaptic transmission. At the neuronal network level, there exists enhanced transmission probability and irregular firing patterns in ASD-NRXN1 deletions. Such changes at the synaptic and network level connectivity patterns influence a critical form of developmental cortical plasticity, synaptic scaling, as ASD-NRXN1 deletions uniquely fail to upscale their synaptic strength in response to chronic neuronal silencing. Together, these findings highlight the disorder-specific consequences of NRXN1 deletions on synaptic function and connectivity, offering mechanistic insights with implications for therapeutic targeting and refinement strategies for NRXN1-associated synaptopathies.

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8. Gillions A, O’Nions E, Mansour H, Hoare S, Mandy W, Stott J. The healthcare experiences of middle and older age autistic women in the United Kingdom. Autism. 2025: 13623613251362265.

Autistic women experience a higher prevalence of physical and mental health conditions compared with autistic men and non-autistic women, plus greater premature mortality and a higher suicide risk. However, little is known about autistic women’s experiences of healthcare, particularly in middle and later life. We aimed to explore autistic women’s perspectives on accessing healthcare services in the United Kingdom. Fifteen autistic women aged between 51 and 73 years participated in semi-structured interviews, which were analysed using reflexive thematic analysis. Four main themes were generated: (1) Stigma and stereotypes in professionals’ understanding of autism leading to poor-quality care, (2) Accumulation of negative healthcare experiences reducing participants’ confidence in services, (3) Efforts required to navigate healthcare systems and (4) The future: age-related concerns and hopes for change. The autistic women in this study reported multiple barriers to accessing healthcare and they felt stigmatised by repeated negative interactions with healthcare providers. Intersections between age and gender affected how participants felt they were perceived in healthcare settings; specifically, participants felt that being an older woman contributed to their autism-related needs being overlooked or misunderstood. Implications for services and directions for future research are discussed.Lay abstractWhy was the study done and what did the researchers do?Autistic women face distinctive healthcare challenges compared with autistic men and non-autistic women. However, there is not much information about their experiences with healthcare in the UK, especially as they age. To better understand the lived experiences of this population, the research team in this study interviewed 15 autistic women in middle to later life about their healthcare experiences. Information from the interviews was analysed by creating themes based on what the participants had reported.What did the researchers find?Four main themes came out of the analysis.1. Participants expressed concerns that stigma and stereotypes associated with autism led to poor healthcare experiences.2. Participants’ confidence in seeking help was affected by having many negative experiences across their lives. Difficult interactions with healthcare providers also made them less confident in seeking help.3. Navigating the healthcare system was a challenge for participants.4. Participants thought a lot about the future. They had worries about ageing and what consequences this might have on their health and support needs. They also shared hopes for better healthcare in the future.What do the findings mean?The findings highlight that autistic women in middle to later life face many barriers in accessing healthcare. The study emphasises the need for better understanding and support for autistic women in healthcare settings.

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9. Goad BS, Rodda J, Allen M, Bamborschke D, Overmars I, Kerr RJ, Bushlin I, Chopra S, Coorg R, Dabscheck G, Freeman JL, Mackay MT, Devinsky O, Guerrini R, Parrini E, Bölsterli B, Hughes I, Huh LL, Kamate M, Kunz AB, Melikishvili G, Miteff C, Myers KA, Olson HE, Poduri A, Pillai S, Riney CK, Sinclair A, Calvert S, Reynolds TQ, Martinez AR, Russo A, Sadleir LG, Sanchez-Albisua I, Sartori S, Shea S, Smith-Hicks CL, Spooner CG, Thomas RH, Ardern-Holmes SL, Webster RI, Valeriani M, Veggiotti P, Masnada S, Ware TL, Yoong M, Berecki G, De Dominicis A, Specchio N, Trivisano M, Møller RS, Wolff M, Fazeli W, Scheffer I, Howell KB. Development and Adaptive Function in Individuals With SCN2A-Related Disorders. Neurology. 2025; 105(3): e213868.

BACKGROUND AND OBJECTIVES: Developmental impairment is common in individuals with SCN2A-related disorders, although descriptions are limited. We aimed to determine trajectories and outcomes of development and adaptive function. METHODS: This was a mixed retrospective cross-sectional study of individuals from an international SCN2A Natural History Study, who had neurologic/neurodevelopmental disorders due to an SCN2A variant. Individuals with SCN2A intragenic variants were grouped into early-onset (EO) and late-onset (LO) phenotypic groups; those with SCN2A-containing 2q24.3 copy number variants (CNVs) were considered separately. We collected medical and developmental history from parents/caregivers and medical records. Adaptive function and behavior were characterized using functional classification system levels and Vineland Adaptive Behavior Scales-3 (VABS-3) Parent/Caregiver Form. We repeated analyses on individuals with variants known to result in gain-of-function (GOF, typically EO phenotypes) or loss-of-function (LOF, typically LO phenotypes). RESULTS: A total of 100 individuals (age 0.1-21.9 years, 39% female) were studied. Phenotypic groups were EO (n = 44), LO (n = 48), and 2q24.3 CNV (n = 8). Developmental delay/intellectual disability was present in 91 of 100, and 23 of 80 individuals (29%) older than 2 years had autism spectrum disorder. Of people older than the typical age for skill attainment, 59 of 95 (62%) could sit and 48 of 88 (55%) could walk. In addition, 27 of 86 individuals (31%) spoke more than 1-5 single words, and 24 of 74 (32%) followed two-step commands. Median VABS-3 Adaptive Behavior Composite (ABC) scores were as follows: the EO phenotypic group had a score of 56 (range 21-110), the LO phenotypic group had a score of 45 (range 20-89), and 5 of 6 with a 2q24.3 CNV had an ABC score of <45. The EO phenotypic group had 3 distinct subgroups, consistent with "benign," "intermediate," and "severe" definitions previously published. The LO phenotypic group showed a continuum of severity, without distinct clusters. However, clinically relevant differences in motor function were evident when subgrouped by seizure-onset age; a lower proportion with earlier seizure onset (age <18 months) were independently ambulant than those with later onset or no seizures (5/15 [33%] vs 10/12 [83%] vs 14/15 [93%], p < 0.01). Analyses of individuals with confirmed GOF/LOF variants (n = 57) showed similar results to the EO/LO analyses. DISCUSSION: The spectrum of developmental impairments and adaptive function in SCN2A-related disorders is extremely broad. Phenotypic subgroups provide prognostic information and critically inform clinical trial design.

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10. Hamrick LR, Boorom O, Estrada K, Brady N, Kelleher B. Prelinguistic Communication Complexity of Children With Neurogenetic Syndromes. J Speech Lang Hear Res. 2025; 68(8): 3938-55.

PURPOSE: Communication complexity and communicative function are important features of prelinguistic communication that are related to later language outcomes. However, little is known about how these early prelinguistic features present in young children with neurogenetic syndromes (NGS). This study aims to characterize prelinguistic complexity and function of children with three NGS: Angelman syndrome (AS), Down syndrome (DS) and fragile X syndrome (FXS). METHOD: Seventy-two infants aged 5-31 months (16 AS, 24 DS, 13 FXS, 19 low-risk control [LRC] infants) completed a parent-child interaction from which their prelinguistic communication was coded using the Communication Complexity Scale. Communication complexity (degree to which eye gaze, gestures, and vocalizations are integrated) and function (communication for the purposes of joint attention or behavior regulation) were compared among groups. RESULTS: The DS group used the most complex communication of the syndrome groups and in many ways demonstrated similar profiles to the LRC group. The AS and FXS groups exhibited the lowest overall communication complexity when covarying age, but their levels of complexity were similar to those of the LRC group when accounting for developmental level. The DS group showed a relative strength in communication for the purposes of behavior regulation. The FXS group demonstrated the lowest likelihood of using communication for the purposes of joint attention, while the AS group exhibited the lowest likelihood of communicating for the purposes of behavior regulation. CONCLUSIONS: Children with NGS exhibit nuanced differences in prelinguistic communication profiles that indicate unique strengths and areas of need. Additional work is needed to disentangle the effects of age and developmental level on prelinguistic communication profiles and to explore how these profiles are related to later language outcomes. Continuing to explore cross-group differences in prelinguistic communication may facilitate more targeted intervention and sensitive phenotyping among children with rare NGS.

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11. He J, Shi Y, Wang X. Therapeutic Effects of Electroencephalogram-Based Bioelectric Stimulation on Cognitive-Behavioural Outcomes in Children With Dual Diagnosis of Autism Spectrum Disorder and Intellectual Disability. Actas Esp Psiquiatr. 2025; 53(4): 802-12.

OBJECTIVES: This investigation evaluates the interventional effects of electroencephalogram-based bioelectric stimulation (EBBS) on intellectual development and behavioural symptoms in children with autism spectrum disorder (ASD) and comorbid intellectual disability (ID). METHODS: By utilising a retrospective cohort design, the research team analysed 310 clinically diagnosed cases of ASD and ID that were stratified into two intervention groups: a conventional group (n = 163) receiving conventional interventions (behavioural applied behaviour analysis (ABA) therapy and structured instruction) and an observation group (n = 147) receiving the same behavioural interventions combined with EBBS. Before and following the treatment, the childhood autism rating scale (CARS), Montreal cognitive assessment (MoCA), developmental age and developmental quotient (DQ) and infants-junior middle school students’ social-life abilities scale (S-M) were employed to assess symptom alleviation, cognitive capabilities and quality of life. The levels of serum 25-hydroxyvitamin D [25(OH)D], folic acid (FA) and brain-derived neurotrophic factor (BDNF) were also measured. RESULTS: After treatment, the observation group showed significantly lower CARS scores; increased post-treatment serum levels of 25(OH)D, FA and BDNF; and improved MoCA scores than the conventional group (p < 0.05). Regarding developmental age and DQ, the observation group demonstrated significant improvements in the subscales of fine motor skills, language, adaptive ability and social interaction after intervention (p < 0.05). Additionally, the S-M total scores and all quality-of-life indicators were superior in the observation group (p < 0.05). CONCLUSION: EBBS has the potential to collaboratively enhance the cognitive function, behavioural symptoms and quality of life of children with comorbid ASD and ID.

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12. Huang Z, Wei A, Yuan H, Huang S, Chen X, Han Y, Li X. Gut microbiota and urine metabolomics signature in autism spectrum disorder children from Southern China. BMC Pediatr. 2025; 25(1): 621.

BACKGROUND AND AIM: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that may have long-term effects on individual development, family functioning, and social integration. This study aimed to determine the gut microbiota and urine metabolomics signature and identify the regional characteristics in ASD from Southern China. METHODS: We conducted a cohort study of 88 well-characterized participants from Guangxi Zhuang Autonomous Region in Southern China. Gut microbiota and urine metabolomics signature was explored by 16 S rRNA sequences and untargeted metabolomic profiles respectively. RESULTS: The gut microbial α-diversity of ASD were significantly lower than healthy controls. The β-diversity analysis indicated that the community structure in ASD group was obviously distinctive. Significant microbiota enriched in 5 sensitive species, Faecalibacterium prausnitzii, Bifidobacterium catenulatum, Blautia obeum, Lachnoclostridium sp., and Blautia sp. in ASD children. In addition, functional analysis of the gut microbiota revealed that the ATP-binding cassette and ABC-2 type transport system ATP-binding protein were closely associated with ASD. Notably, microbiota showing a positive correlation with Androstenedione, Stearamide, Oleamide, Cadaverine, Hexadecanamide, Orotic acid, Linoleic acid, Palmitoleic acid, Lauric acid, suggesting a potential association with the Arginine and proline metabolism pathway. CONCLUSION: This study found lower α-diversity, unique β-diversity, enriched species, and positive correlations between microbiota and Arginine/Proline metabolis, which demonstrated typical signature of microbiota and metabolites discriminated Zhuang ethnic group ASD children of regional characteristics.

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13. Itahashi T, Tanji K, Shikauchi Y, Naoe T, Okimura T, Nakamura M, Ohta H, Hashimoto RI. Iron deposition and functional connectivity alterations in the right substantia nigra of adult males with autism. Cereb Cortex. 2025; 35(8).

The substantia nigra (SN) is a midbrain nucleus implicated not only in motor control and reward processing but also in higher-order cognitive functions. Iron homeostasis in this region is essential for neurotransmitter synthesis, especially for dopamine, and thus, iron dysregulation may contribute to the symptomatology of autism spectrum disorder (ASD). However, iron deposition and functional circuits of the SN in the autistic brain remain underexplored. This study investigated iron deposition and functional connectivity (FC) of the SN in 53 adult males with ASD and 99 typically developing controls using quantitative susceptibility mapping and resting-state fMRI. Compared to controls, the ASD group exhibited higher magnetic susceptibility in the right SN, suggesting elevated iron deposition. Within the ASD group, higher iron deposition was associated with more severe socio-communicative deficits and reduced sensory-seeking behavior. Seed-based FC analyses further revealed that the ASD group exhibited stronger FC between the right SN and bilateral visual cortices and reduced FC with the right superior frontal gyrus. These results highlight the critical role of the SN in the autistic brain and indicate that altered iron homeostasis in the SN may contribute to disruptions in the dopaminergic system that underlie the core symptoms of ASD.

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14. Kadiyska T, Tourtourikov I, Madzharova D, Ciurinskiene S, Savcheva M, Ivanova-Todorova E, Mileva-Popova R, Tafradjiiska-Hadjiolova R, Mitev V. Impact of AOC1 and HNMT Variants on the Therapeutic Outcomes of a Histamine Reducing Diet in Autism Spectrum Disorder. J Mol Neurosci. 2025; 75(3): 105.

This study aimed to investigate the effects of a histamine-reducing diet on five developmental domains in autism spectrum disorder subjects and the impact of variants in the AOC1 and HNMT genes on the therapeutic outcomes. Four genetic variants (rs2052129, rs10156191, rs1049742, and rs11558538) in AOC1 and HNMT were genotyped in 400 Bulgarian children with ASD. Genotype and allele frequencies were compared to control data from the GnomAD database. Further analysis was conducted on 91 ASD subjects with elevated histamine who followed the histamine-reducing diet. Significant improvements were observed across all developmental domains measured by the DP-3 test, including physical, adaptive behavior, social-emotional, cognitive, and communication skills. Paired samples T-tests indicated statistically significant increases in all categories (p < 0.001), with physical scores increasing from 82.29 to 89.18, adaptive behavior from 72.68 to 81.35, social-emotional from 71.43 to 80.22, cognitive from 69.33 to 78.66, and communication from 67.36 to 77.54. Minor allele carriers exhibited lower mean improvements across each of the five developmental parameters compared to wild-type carriers, with mean reductions of 0.90 for rs2052129, 0.70 for rs10156191, 2.07 for rs1049742, and 1.94 for rs11558538. These findings highlight the potential role of histamine regulation in autism spectrum disorder, the impact of variants in the AOC1 and HNMT genes on the therapeutic outcome and suggest dietary management as a viable intervention to improve developmental outcomes.

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15. Kraus de Camargo O. Viewpoint: taking a strengths-based approach to developmental disability: the F-words for child development. BMJ Paediatr Open. 2025; 9(1).

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16. Li M, Wang S, Chang L, Chen R, Liu Y, Ye Z, Zhao Y, Ma Y, Yang J, Gan X, Zhuang Y, Wang P. Mn(3)O(4) nanozymes as potential therapeutic agents for autism spectrum disorder: insights from behavioral and molecular studies. Nanoscale. 2025.

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder of uncertain etiology. Current studies suggest that ASD progression is closely linked to an imbalance between oxidative stress and antioxidant capacity, marked by elevated levels of reactive oxygen species (ROS) and reduced concentrations of antioxidant molecules such as superoxide dismutase (SOD) and glutathione (GSH). Although the human body does possess endogenous ROS-scavenging enzymes, their sensitivity to environmental conditions and the difficulties of large-scale production limit their practical application. Consequently, substantial efforts have been dedicated in recent years to developing artificial enzymes with ROS-scavenging activity. Among these, ROS-scavenging nanozymes have been widely used due to their enhanced stability and multifunctionality. Notably, only a few manganese-containing nanozymes have been reported to exhibit effective reactive oxygen species (ROS) scavenging activity thus far. Methods: In this study, we utilized Mn(3)O(4) nanozymes (Mn(3)O(4) NZs) exhibiting superoxide dismutase, catalase, and hydroxyl radical-scavenging activities. We assessed brain injury, as well as the antioxidative and anti-inflammatory effects of Mn(3)O(4) NZs through behavioral tests, Nissl staining, immunofluorescence assays, and a laser speckle imaging system. Furthermore, we explored the underlying mechanisms of Mn(3)O(4) NZs by employing ELISA kits, oxidative stress detection kits, and immunofluorescence analysis. Results: The results demonstrated that Mn(3)O(4) NZs increase cerebral blood flow and effectively ameliorate ischemic and hypoxic conditions in BTBR mice. Moreover, they improve social deficits, repetitive stereotyped behaviors, cognitive impairment, and neuronal morphological damage. Further in vitro experiments confirmed that Mn(3)O(4) NZs exert neuroprotective effects in BTBR mice by mitigating oxidative stress and inflammation. Conclusion: These findings indicate that Mn(3)O(4) NZs exhibit excellent antioxidant and anti-inflammatory effects in vitro and effectively enhance cerebral blood flow, ameliorate behavioral deficits, and alleviate neuronal damage in BTBR mice in vivo. Collectively, our results suggest that Mn(3)O(4) NZs exert neuroprotective effects in the hippocampus of BTBR mice by reducing oxidative stress, mitigating neuroinflammation, and rescuing neuronal injury. Consequently, they hold promise as a potential nanomaterial for the treatment of autism.

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17. Liu Z, Wu C, Lin Z, Li H, Liu Y, Amjad N, Majid M, Basnet R, Li Z. Triple-phase VPA administration in Sprague-Dawley rats: A cost-effective ASD model unveiling the synaptic-mitochondrial-inflammatory axis as a therapeutic target. Life Sci. 2025; 379: 123900.

AIMS: To overcome limitations of traditional single-dose valproic acid (VPA) models in autism spectrum disorder (ASD) research-including severe maternal toxicity and imprecise embryonic exposure-this study established a cost-effective ASD model using a three-phase sequential VPA strategy in Sprague-Dawley (SD) rats. MATERIALS AND METHODS: Pregnant SD rats received VPA (400 → 450 → 400 mg·kg(-1)) on gestational days 11.5, 12.5, and 13.5. Maternal/neonatal survival, neurodevelopmental milestones, and behavioral phenotypes (open field, three-chamber sociability, repetitive grooming) were assessed. Synaptic ultrastructure (transmission electron microscopy), neuroinflammation (ELISA for IL-1β, IL-6, TNF-α, IL-10), and oxidative stress (CAT, SOD, GSH-Px, MDA) in the prefrontal cortex were analyzed. KEY FINDINGS: The optimized protocol eliminated maternal mortality (p < 0.01) and resorption (p < 0.0001), while enhancing neonatal survival (p < 0.01) and litter size (12-16 pups). Model rats exhibited core ASD phenotypes: social deficits (p < 0.0001), repetitive grooming (P < 0.01), and delayed neurodevelopment. Synaptic vesicle depletion, mitochondrial cristae disruption, proinflammatory cytokine upregulation (p < 0.01), and antioxidant suppression (p < 0.01) confirmed synaptic-mitochondrial-inflammatory axis dysregulation. SD rats outperformed C57BL/6 mice in phenotypic fidelity and modeling efficiency. SIGNIFICANCE: This study pioneers a three-phase VPA strategy that balances high ASD phenotyping fidelity with animal welfare. The synaptic-mitochondrial-inflammatory axis is identified as a novel therapeutic target. SD rats provide a superior, cost-effective platform for ASD mechanism and intervention studies.

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18. Loos E, Gerdsen M, Hazen M, Cushing SL, Gordon KA, Perez-Fornos A, Verhaert N, Desloovere C, Van de Berg R, Widdershoven J. Bilateral vestibular hypofunction in children. Int J Pediatr Otorhinolaryngol. 2025; 196: 112506.

BACKGROUND: Vestibular hypofunction in children can lead to frequent falls and delayed motor development. Especially children with bilateral vestibular hypofunction (BVH) are most at risk for developing symptoms. These children might benefit from future therapies, like vestibular implants, to restore their vestibular system. This study aimed to describe the prevalence, etiology, motor development, and hearing status of pediatric patients with BVH. METHODS: A multicenter retrospective chart review of 492 children with sensorineural hearing loss was performed. Children with at least one bilaterally abnormal vestibular test were defined as having a BVH. RESULTS: BVH was found in 23 % of the screened children. Especially children with syndromic hearing loss like Usher, CHARGE, or Waardenburg syndrome and infectious etiologies like congenital CMV and meningitis, were prone to have BVH on all performed tests. Children with BVH had a high percentage of motor developmental delay (81 %), especially if all tests were abnormal on both sides (97 %). CONCLUSION: It is recommended to perform vestibular screening in children with sensorineural hearing loss, as BVH is prevalent. BVH has a very high risk of causing a delay in motor development. Especially in children with BVH on all vestibular tests, motor development is impaired. Those children might benefit from vestibular implants in the future.

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19. Marquez D, Mata K, Williams Brown F, Grewe ME, Piven J, Caravella KE. Navigating family messaging: Qualitative experiences of Black caregivers of children with autism. Autism. 2025: 13623613251361604.

Black caregivers of children with autism express that there are gaps in both knowledge and acceptance of disabilities within their communities. This lack of information and resources provided to Black communities can lead to tensions within families regarding autism diagnoses and how to support individuals with autism in their families. As part of a larger qualitative study, 23 Black caregivers of children with autism shared their experiences with the messages received from family members about their child’s autism diagnosis. Two overarching themes emerged regarding family messaging: Lack of Understanding and Denial of Autism and Supportive Acceptance and Inclusion. Six subthemes were identified that highlight the nuance within the messaging content. These findings can inform strategies to develop culturally tailored interventions to support Black caregivers in navigating the range of messages received from family members when their child receives a diagnosis of autism. Further research should build on these findings to investigate how directly this family messaging links to broader messaging in Black culture regarding autism, as well as how both family and cultural messaging may interact with factors such as awareness or use of autism resources, attitudes toward research, and long-term social and behavioral outcomes for Black children with autism.Lay abstractBlack caregivers of children with autism say there are gaps in knowledge and acceptance of disabilities in their communities. This lack of information and resources can cause tensions in families about autism diagnoses and how to support their children. This study talked to 23 Black caregivers to learn about their experiences with the messages they received about their child’s autism diagnosis from family members. We found two main themes: Lack of Understanding and Denial of Autism, and Supportive Acceptance and Inclusion. Within these themes, parents shared different experiences, like family members denying autism exists, not wanting to learn about it, or being very supportive and inclusive. Black caregivers also talked about the emotional toll the negative messages take on them. This work is important because it can help create culturally tailored support for Black caregivers of children with autism, so that they can engage with family members in more supportive ways. Future research should look at how these messages affect the use of autism resources, attitudes toward research, and long-term outcomes for Black children with autism.

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20. Marroquín JM, Lechuga-Peña S, Oh H, Marsiglia FF. Advancing Health Equity for Latinx Autistic Adults in the United States through an Intersectionality Lens. Soc Work. 2025.

The health of autistic adults has become increasingly researched, but subgroups with intersectional identities like Latinx autistic adults remain largely understudied. In this article authors examine the health disparities U.S. Latinx autistic adults may experience throughout their lifespan and apply a combined theoretical framework-the ecological systems theory, critical race theory (CRT), and intersectionality-to a study of Latinx autistic young adults. CRT conceptualizes how race, along with the intersectional identity of disability, interact in the socioecological systems of the United States. Together these theories guide the examination of the dynamic interactions impacting the health of Latinx autistic individuals. The proposed integrated theoretical framework supports practitioners’ abilities to be culturally humble and responsive to Latinx autistic adults’ health experiences. Practitioners engaging with Latinx autistic communities, and specifically social work researchers, practitioners, and educators, can gain awareness of how individuals’ social context and positionality contribute to people’s experiences of health, discrimination, and wellness in their day-to-day lives. This article provides practical examples and recommendations for implementation. Although this article centers on the intersections of Latinx racial identity and autism disability, the proposed theoretical framework can be useful in identifying and addressing health disparities among other marginalized communities.

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21. McLeod J, Roderick M, Hanley M, Riby DM, Jachyra P. Perspectives and experiences of physical activity among autistic adults in middle adulthood. Autism. 2025: 13623613251360862.

Physical activity (PA) participation among autistic adults is low; however, it is unclear why this is the case. To date, little research has included the perspectives of autistic adults during middle adulthood to understand how to support their PA and to understand the complexity of their daily lives. Seventeen autistic adults aged 36-59 years participated in two online, semi-structured interviews (N = 34). Reflexive thematic analysis was used to analyze the data, and the socio-ecological model was applied to interpret the themes. Reflexive notes (N = 34) made during the research process also were analyzed to support the rigour of the interpretations. Neuro-normative assumptions about autism and PA, the importance of trust and sensory sensitivities shaped PA participation for these autistic adults. The new concept of neuro-normative assumptions highlights how pervasive assumptions were damaging, made it difficult to build trust and decreased the predilection of PA participation. This article delivers original and significant knowledge and calls on the field to co-produce neurodivergent-informed PA practices that are reflective of the lives, needs and abilities of autistic adults. We conclude the article by highlighting how a trauma-informed approach may have potential value in building trust and supporting autistic adults in PA.Lay AbstractWhat is already known? Autistic adults experience barriers to participating in physical activity (PA), and their rates of participation are low. This is a problem because PA participation can contribute many health and well-being benefits. There is a need for research to better understand how to support their PA participation. Working directly with autistic adults is of utmost importance as minimal research has directly included their perspectives.What this article adds: Seventeen autistic adults from the United Kingdom participated in two online semi-structured interviews (N = 34). Interview data were accompanied by reflexive notes which were a way for the research team to provide preliminary analyses and think about the data during the research process (N = 34). Together, interview transcripts and memos were analyzed to generate themes across the interview transcripts. We used the socio-ecological model to examine the different components that impact PA participation. The study highlights how neuro-normative assumptions about PA, trust and sensory sensitivities shaped PA participation for autistic adults. A lack of understanding and knowledge among movement professionals about autism, their needs, interests and abilities and trust significantly impacted participation. Assumptions and limited understandings about autism limited participation, as the forms of PA available often were not suitable to the diverse needs, interests and abilities of autistic adults.Implications for practice, research or policy: The insights highlight the importance of co-producing neurodivergent-informed PA practices that are reflective of the needs, strengths and abilities of autistic adults. Finally, we outline how the use of a trauma-informed approach to PA may be valuable in building trust and supporting PA participation. This is the first study to use this approach for PA with autistic adults.

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22. Moronski L, Chittams JL, Lake ET, McHugh MD. Association of Nurse Work Environment, Staffing, and Skill Mix With Length of Stay for Patients With Intellectual and Developmental Disabilities. Med Care. 2025; 63(9): 672-8.

INTRODUCTION: Complex care for individuals with intellectual and developmental disability (IDD) may translate into longer than needed hospital lengths of stay (LOS). Nurses are poised to influence the outcomes of patients with IDD. But ample evidence suggests that nurses’ capacity to provide optimal care may depend on key organizational features such as having sufficient staff, supportive work environments, and sufficient mix of registered nurses, termed nursing resources. This paper aims to determine the association of nursing resource factors with LOS in adults with IDD. METHODS: Linked data from 3 datasets representing 4 states were used. Zero-truncated negative binomial regression models that clustered for patients in the same hospital were used to examine the association between nursing resources and LOS for adults with IDD. RESULTS: Receiving care in a hospital with a better nurse work environment, skill mix, and staffing was associated with reduced LOS in this sample of 38,587 patients with IDD in 595 hospitals. In univariate models adjusted for hospital and patient characteristics, all 3 nursing resources were independently associated with reduced LOS. In an adjusted multivariate model, work environment and skill mix remained significant with identical effect sizes to the separate models, that is, for an increase of 1 SD, work environment is associated with a reduction in LOS of 2.7% (P=0.005), a 6 day to 5.84 day reduction, and skill mix of 2% (P=0.039), a 6 day to 5.88 day reduction. CONCLUSIONS: The appropriate deployment of nursing resources may lead to a reduction in LOS for patients with IDD.

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23. Okuizumi D, Terada K, Ishii A, Ohmoto Y, Shimizu H, Imamura A, Iwanaga R, Kumazaki H. Acoustic features of emotional expression in 5-year-old children with autism spectrum disorder. Front Psychiatry. 2025; 16: 1444675.

BACKGROUND: Children with autism spectrum disorders (ASD) exhibit poor prosodic performance, which is associated with their poor language and social skills. Prosody serves important communicative functions not only at grammatical and pragmatic levels but also at the emotional level. This study investigates the acoustic features of emotional expression in children with ASD compared to typically developing (TD) children, within a narrowly defined age cohort restricted to 5-year-old participants. METHODS: Nineteen children with ASD and 19 TD children, aged 5 years, participated in this study. We investigated the differences in the fundamental frequency (f0) ranges in three emotional expression settings (i.e., neutral, liking, and disliking). RESULTS: The f0 range in the neutral setting was greater in children with ASD than in TD children (p = 0.04). There were no significant differences in the f0 range between the three settings in the ASD group (p = 0.61). There were significant differences between the neutral and liking settings (p < 0.01) and the liking and disliking settings (p < 0.01) in the TD group. In the ASD group, a negative correlation was observed between the f0 range in the liking setting and the Social Responsiveness Scale, Second Edition T-score (p < 0.01). DISCUSSION: By focusing on the relationship between acoustic features and emotional expression setting and by restricting the age of participants, our results demonstrate the trend of acoustic features in children with ASD. To deepen the understanding of the relationship between f0 and emotion, future studies investigating prosody in a range of emotional expression settings are needed.

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24. Ruíz MGH, Calderón MJA, Solá VP, Zúñiga AH. Description of Motor Stereotypies in Adolescents and Adults With Autistic Spectrum Disorder. Actas Esp Psiquiatr. 2025; 53(4): 715-29.

BACKGROUND: Motor stereotypies (MS) are highly prevalent in children with autism spectrum disorders (ASD) and, although they tend to decrease with age, may persist into adulthood. The primary objective of this study was to describe the frequency, severity, number, and types of MS in adolescents and adults with ASD, to retrospectively evaluate their evolution over time, as well as to examine their relationship with sociodemographic and clinical variables. METHODS: A sample of 90 adolescents and adults with ASD were included in a cross-sectional and retrospective study. Rojahn’s Stereotypic Behavior Scale (SBS) was used to measure the frequency, severity, and types of MS, while the Achenbach System of Empirically Based Assessment (ASEBA) inventories were utilized to assess psychiatric comorbidity. RESULTS: MS were observed in 86.5% of cases. The most frequent MS in adolescents and adults with ASD were complex hand and finger movements and pacing (both of which were the most persistent over time) and repetitive body movements (which decreased in periodicity over time). Other, more socially inappropriate MS diminished over time. A significant reduction in the frequency and severity of MS was observed. No correlation was found between age and frequency of MS, and no differences were observed between men and women. Individuals with ASD and intellectual disability (ID) exhibited more types of MS per case and more frequent MS than those without ID, although these differences were not statistically significant. The ASD group with psychopathological comorbidities showed greater frequency and severity of MS, as well as more types of MS per case. CONCLUSIONS: MS decreased in frequency and severity over time but persisted in ASD, particularly those that are more specific to ASD. The most socially inappropriate MS tended to disappear. The presence of MS in adolescents and adults with ASD was not influenced by age or sex. Adolescents and adults with ASD and ID or psychopathological comorbidities exhibited a greater variety of stereotypies, with the psychopathological comorbidities group showing higher frequency and severity of MS. Understanding the characteristics of MS could aid in predicting their progression, designing more targeted treatments (if needed), and identifying phenotypic subgroups to facilitate the discovery of associated risk genes.

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25. Salomon C, Heinz K, Aronson-Ramos J, Wall DP. An analysis of the real world performance of an artificial intelligence based autism diagnostic. Sci Rep. 2025; 15(1): 29503.

Rapidly rising demand for pediatric autism evaluations has outpaced specialist capacity and created a crisis of delayed diagnoses and treatment. Streamlining the diagnostic process could reduce wait times and optimize use of limited specialist resources. Following strong clinical trial results, Canvas Dx, an AI-based diagnostic, was FDA authorized to support accurate diagnosis or rule-out of autism in children 18-72 months with caregiver or healthcare provider concern for developmental delay. To gain insight into real-world device performance, a de-identified aggregate data analysis of the initial 254 Canvas Dx prescriptions fulfilled post-market authorization was conducted to determine: accuracy of autism predictions compared to clinical reference standard diagnosis and prior clinical trial data, key real-world prescriber and patient characteristics, proportion of determinate device outputs (positive or negative for autism) and impact of decision threshold settings on device performance. In this sample of 254 children with a 54.7% autism prevalence rate (29.1% female, average age 39.99 months), Canvas Dx had a NPV of 97.6% (CI- 92.8% -100.0%) and a PPV of 92.4% (CI-87.7%-97.2%). A majority of cases (63.0%) received a determinate result. Sensitivity and specificity of determinate results were 99.1% (CI-97.3%-100.0%) and 81.6% (CI-70.8%-92.5%) respectively. The median age of children who received a positive for autism output was 37.2 months, which is more than 2 years earlier than the current median age of autism diagnosis. No performance differences were noted based on patients’ sex. Compared to clinical trial results, real world performance was equivalent for all key metrics, with the exception of the determinate rate and the PPV which were significantly improved in real world performance. Analysis of real-world Canvas Dx data highlights its feasibility and utility in supporting accurate, equitable and early diagnosis or rule out of autism. With medical coverage and broader clinical adoption, innovative solutions such as Canvas Dx can play an important role in helping to address the growing specialist waitlist crisis, ensuring that more children gain access to targeted therapies during the critical window of neurodevelopment where they have the greatest life-changing impact.

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26. Sirao L, Yaping H, Yunshan L, Dan L. Pharmacological or non-pharmacological therapies? The impact of different therapies on sleep in children with autism spectrum disorder: A systematic review and network meta-analysis. Autism. 2025: 13623613251362273.

This systematic review and network meta-analysis evaluated the efficacy of various therapies on sleep disturbances in children with autism spectrum disorder. We analyzed 35 randomized controlled trials comparing five interventions: melatonin, parent-mediated sleep education, behavioral interventions, physical activity, and adjunctive therapies. Standardized mean differences and surface under the cumulative ranking curve values were calculated to rank efficacy. Physical activity demonstrated the largest effect size (standardized mean difference = 1.13, surface under the cumulative ranking curve = 98.1%), followed by melatonin (standardized mean difference = 0.57, surface under the cumulative ranking curve = 62.8%) and behavioral interventions (standardized mean difference = 0.49, surface under the cumulative ranking curve = 51.6%). Parent education and adjunctive therapies showed limited efficacy. Heterogeneity (I² = 67%) was addressed via sensitivity analyses. A stepped-care model is recommended, prioritizing daytime physical activity (30-45 min, 3-5 sessions/week) combined with telehealth parent education as first-line treatment, followed by prolonged-release melatonin and therapist-supported cognitive behavioral therapy for non-responders.Lay abstractMany children with autism spectrum disorder struggle with sleep problems like trouble falling asleep, waking up at night, or not sleeping enough. This study looked at different treatments to improve sleep in these children, including melatonin supplements, parent-led bedtime routines, exercise programs, and other therapies. The researchers reviewed 35 studies involving over 2700 children with autism spectrum disorder. They compared how well each treatment worked using a method called network meta-analysis, which ranks treatments based on their effectiveness. Exercise programs, such as swimming or martial arts, were the most effective at improving sleep. These activities helped children fall asleep faster and stay asleep longer. Melatonin supplements also worked well but had side effects like morning drowsiness. Behavioral strategies, like structured bedtime routines, showed moderate benefits, while therapies like weighted blankets or iron supplements had little impact. This study helps families and doctors choose the best treatments for sleep problems in children with autism spectrum disorder. Exercise is a safe, low-cost option that not only improves sleep but also enhances daytime behavior. The findings support starting with physical activity and parent coaching before trying medications like melatonin. Recognizing effective treatments can reduce stress for caregivers and improve quality of life for children with autism spectrum disorder.

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27. Sonfelianu A, González-Sala F, Lacomba-Trejo L. Exploring Attachment in Adults With Autism Spectrum Disorder: A Systematic Review. Actas Esp Psiquiatr. 2025; 53(4): 813-38.

BACKGROUND: Attachment styles may exert an influence on emotional regulation, specifically, secure attachment has been associated with more adaptative emotion regulation strategies and enhanced adult well-being. Despite the recognized importance of secure attachment in promoting mental health and well-being, little is known about how attachment styles manifest and evolve in adults with autism spectrum disorder (ASD). This systematic review examines « What is the connection between attachment styles and psychological, relational, and clinical variables in individuals with ASD or autistic traits, according to scientific research? ». METHODS: A literature search, adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, was performed across PubMed, Web of Science and ProQuest Central databases. Using HubMeta, 12 studies were selected based on set criteria. Two independent reviewers conducted the entire process, from searching and selecting studies to extracting data and assessing quality. Inter-rater agreement was high, with kappa values ranging from 0.94 to 1. RESULTS: The sample included 91,078 (98.99%) women and 346 (0.38%) men. Studies assessed attachment, ASD or autistic traits (Broader Autism Phenotype, BAP), intelligence quotient (IQ), depression, anxiety, stress, marital and relationship satisfaction, emotional availability and intelligence, empathy, ASD difficulties, personality traits and motivational processes, and gaming disorder. Individuals with ASD show higher rates of insecure attachment than general population and this could have an impact on their mental health and well-being. Parents with ASD also show difficulties when establishing the bond with their children. CONCLUSION: This review highlights the importance of developing interventions with adults with ASD with the aim to establish better bonding and reaching greater well-being and mental health. The PROSPERO Registration: CRD42024628086, (https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024628086).

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28. Tangkilisan G, Vazquez LR, Fuchu P, Sanders B, Dolata JK, Bedrick S, Fombonne E, Broder-Fingert S, Zuckerman KE. Consensus recommendations for usability and acceptability of mobile health autism screening tools. Autism. 2025: 13623613251360276.

Mobile health (mHealth; online phone or tablet-based) screening tools for autism are being increasingly used by parents, health care, and educational providers. However, it is unclear whether mHealth autism screening will improve the inequalities in autism or further help individuals already advantaged in autism care. To try to improve equity in mHealth autism screening, we conducted a modified Delphi consensus panel process with 14 panelists who were medical providers, parents, tool developers, and educational providers. Panelists participated in three asynchronous online voting rounds followed by online discussions. Panelists were provided a preliminary list of 28 recommendations for autism-screening tools that were compiled from previous qualitative interviews in the larger project. In each round, panelists were asked to vote for up to 10 recommendations from the preliminary list and discuss the voting results. After the third round of asynchronous voting, a final round of discussion with all the panelists was held live through Zoom to discuss the final asynchronous voting results. All voting and discussion took place on an online app called Slack. Voting and discussion yielded 19 recommendations in five conceptual categories: transparency, equity, access, product design and user experience, and development process. Tools adhering to these recommendations may increase equitable service use after screening.Lay abstractFamilies may use information online to learn more about autism. Families, health care, and educational providers may use online tools like checklists or web apps to screen for autism (measure whether a young child has autism symptoms or behaviors). However, we do not know whether the online autism-screening tools can be easily used by families and providers. It is possible that families who are culturally diverse, have lower education, or have lower income have trouble using online autism-screening tools. We conducted an online consensus panel with medical/educational providers, parents, and tool developers, asking them to vote and have discussions on suggestions for online screening tools for autism. The voting and discussions resulted in 19 suggestions for changes to make the tools easier to use. The top recommendations included directly linking to sources of information about autism, reading level that is less than or equal to fifth grade, and focusing on the diverse behavior/needs/strengths associated with autism.

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29. Wasiuk PA, Cook BA, Irwin JR. Masked-Speech Recognition and Self-Reported Functional Listening in Autistic Young Adults. J Speech Lang Hear Res. 2025; 68(8): 4106-22.

PURPOSE: Autistic adults consistently report difficulties understanding speech in adverse listening environments, which may be related to differences in social communication and participation. Research examining masked-speech recognition in autistic adults is limited, particularly in competing speech backgrounds with high degrees of informational masking. This work characterizes speech-in-speech and speech-in-noise recognition in young adults on the autism spectrum, as well as evaluates self-reported functional listening abilities and listening-related fatigue. METHOD: Masked-speech recognition was evaluated in both autistic (n = 20) and non-autistic (n = 20) young adults with normal hearing. Speech reception thresholds were adaptively measured in two-talker speech and speech-shaped noise using target sentences that were either semantically meaningful or anomalous. Functional listening abilities and listening-related fatigue were assessed using the Speech, Spatial, and Qualities of Hearing Scale and the Vanderbilt Fatigue Scale for Adults. Autism characteristics and social communication experiences were quantified using the Social Responsiveness Scale-Second Edition. RESULTS: Autistic adults displayed significantly poorer speech-in-speech recognition than their non-autistic peers, while speech-in-noise recognition did not differ between groups. Functional listening difficulties in daily life and listening-related fatigue were significantly higher for autistic participants. Autism characteristics strongly predicted functional listening abilities and listening-related fatigue in both groups. CONCLUSIONS: Autistic young adults experience objective speech-in-speech recognition difficulties that correspond with listening challenges in daily life. Autism characteristics and social communication experiences predict functional listening abilities reported by both autistic and non-autistic young adults with normal hearing. Speech-in-speech recognition difficulties observed here may amplify social communication challenges for adults on the autism spectrum. Future work must prioritize improved awareness of autistic listening differences.

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30. Yu ZX, Mo HY, Shan CH, Zhao YM, Zhou JX, Wang YF, Liu Y, Tong J, Geng ML, Wu X, Zhang Y, Zhu BB, Huang K, Tao FB, Gao H. Risk of Neurodevelopmental Disorders in Preschool Children Associated with the Longitudinal Trajectory of Phthalates during Pregnancy: Potential Mechanisms Based on Metabonomics of Cord Blood. Environ Sci Technol. 2025; 59(31): 16180-92.

Phthalate exposure during pregnancy may result in neurotoxicity to offspring, but no studies have investigated the effects of longitudinal phthalate trajectories during pregnancy on children. Therefore, exposure trajectories were constructed by using urine concentrations of phthalates at different times. Similarly, 3220 children were screened for symptoms of autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and emotional and behavioral problems (EBPs) via multiple measures between the ages of 1.5 and 6 years. We also explored potential biological mechanisms through the metabonomics of cord blood. The results showed that high MMP during pregnancy was positively associated with autistic traits in all children (OR: 2.09, 95%CI: 1.10, 4.00) and boys (OR: 2.47, 95%CI: 1.08, 5.63). High LMWP (OR: 3.43, 95%CI: 1.15, 10.20), DEHP (OR: 3.24, 95%CI: 1.08, 9.69), or all phthalates (OR: 4.87, 95%CI: 1.48, 16.05) increased the probability of the occurrence of autistic traits. High MBP exposure in late pregnancy slightly increased the incidence of ADHD (OR: 1.61, 95%CI: 0.91, 2.85). High MBP (OR: 1.42, 95%CI: 1.02, 1.97) exposure increased the incidence of EBPs. Sex-specific associations were also observed. Mechanistically, phthalate exposure interfered with linoleic and arachidonic acid (AA) metabolism. In summary, longitudinal exposure to phthalates during pregnancy may increase the risk of neurodevelopmental disorders (NDDs) in children with sex-specificity. These findings may provide new insights into the underlying mechanisms of phthalates affecting neurodevelopment.

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31. Zhu FL, Ji Y, Wang L, Xu M, Zou XB. Current situation and influencing factors of Chinese children’s diagnosis delay in autism. J Neurodev Disord. 2025; 17(1): 47.

BACKGROUND: Although experienced clinicians are capable of diagnosing autism in children before they reach the age of 2, the average age of diagnosis reported internationally is between 4 and 5 years, indicating a significant delay. This study aimed to determine the factors influencing the diagnostic delay time (DDT) in Chinese autistic children. METHODS: We employed the Cox proportional hazard model to examine the effects of individual, family, sociodemographic, and healthcare system indicators on DDT in 480 Chinese autistic children (age range: 16.10-190.16 months; male-to-female ratio: 5.67:1) recruited from a tertiary hospital between 2021 and 2023. RESULTS: The median DDT was 9.58 months (IQR = 15.01). Independent risk factors for delayed diagnosis included normal language competence (RR = 1.747, p < 0.001), non-core symptoms as first concerns (RR = 1.642, p = 0.013), school attendance (RR = 1.941, p < 0.001), irregular well-child visits (RR = 1.264, p = 0.028), and misdiagnosis history (RR = 0.648, p = 0.001). CONCLUSIONS: Diagnosis delay in Chinese autistic children is heterogeneous. Early monitoring for children with normal language skills and school-aged children, alongside improved healthcare system practices, is critical.

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32. Zoga K, Villiere S, Tikiyani V, Edwards-Cintron AF, Thokachichu P, Nicodemus P, Camara PG, Hart MP. Multiple autism genes influence GABA neuron remodeling via distinct developmental trajectories. Genetics. 2025.

Variation in over 100 genes are now associated with increased risk for autism and related neurodevelopmental conditions, but how this variation results in distinct and overlapping behavioral changes is still not well understood. Recent efforts have focused on screening many autism genes at once for functional and phenotypic convergence, and identified subsets that are crucial for many early steps of neurodevelopment. Few studies have screened later steps of neurodevelopment, circuit function, circuit plasticity, or behaviors. We screened twenty conserved autism-associated genes for impact on experience-dependent neuron remodeling in C. elegans. Loss of unc-44/ANK2, set-4/KMT5B, daf-18/PTEN, gap-2/SYNGAP1, and chd-1/CHD8 increased, while unc-36/CACNA2D3 decreased, neurite outgrowth of the GABAergic DVB neuron in adults. Although daf-18/PTEN, set-4/KMT5B, and unc-44/ANK2 had convergent phenotypes, they arise from distinct temporal trajectories with differential impact on DVB pre-synaptic morphology. Screening for the DVB regulated spicule protraction behavior identified multiple autism genes involved, but only unc-44/ANK2 and unc-36/CACNA2D3 were shared between screens. Application of a metric geometry computational framework (CAJAL) to the DVB morphology dataset identified 5 additional genes that impact DVB morphology, including unc-2/CACNA1A and unc-10/RIMS1, which also significantly impacted behavior. This work defines new regulators and molecular mechanisms of experience-dependent neuron remodeling and circuit plasticity, and further links these processes with conserved autism genes. It also demonstrates the utility of using intact, behavior generating circuits in C. elegans, to screen for novel roles for conserved autism genes.

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