1. Al-Salihy AAS. Female reproductive health trends and autism spectrum disorder prevalence between 2000 and 2024. Sci Rep;2025 (Mar 12);15(1):8507.

This study investigates the correlation between female reproductive health parameters and Autism Spectrum Disorder (ASD) prevalence from 2000 to 2024. The analysis used advanced statistical and machine learning models to identify trends in key reproductive indicators and their association with ASD prevalence. Significant positive correlations were observed between ASD prevalence and maternal age, while negative correlations were found with antral follicle count, Anti-Müllerian Hormone (AMH) levels, and fertility rate. The Random Forest model emerged as the most accurate predictive tool, explaining 96.9% of the variance in ASD prevalence. Maternal age was the dominant predictor of the variables analyzed, contributing approximately 75% of the model’s predictive power, while estradiol levels and Follicle Stimulating Hormone (FSH) contributed significantly less. These findings highlight potential statistical associations but do not establish causality. Further research is necessary to validate these associations and explore underlying biological mechanisms.

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2. Araújo S, Paula Neto A, Pinho MJ, Dória S, Barros A, Carvalho F. Genetic study on candidates for oocyte donation. JBRA Assist Reprod;2025 (Mar 12);29(1):61-66.

OBJECTIVE: There is a rising demand for assisted reproductive medicine, including sperm, oocyte and embryo donation. Besides medical and legal considerations, genetic testing, including carrier screening for multiple autosomal and X-linked recessive disorders plays an essential role in evaluating hereditary risk among donors and therefore exclude them from the donation process. METHODS: A retrospective study was conducted on oocyte donors from a private clinic of assisted reproduction who underwent genetic testing between June 2014 and September 2023. Pre and post-test procedures were performed at the private clinic while karyotyping and carrier screening for Cystic Fibrosis, Fragile X syndrome and Spinal Muscular Atrophy were performed at the Genetic Unit of Faculty of Medicine, University of Porto. RESULTS: Among 581 donors, 81 women were excluded from the donation process since 5/563 had an alteration in karyotype, 57/581 were carriers of a Cystic Fibrosis Transmembrane conductance Regulator pathogenic variant or had a 5T allele, 11/394 had Survival of Motor Neuron 1 deletion and 8/426 had an intermediate or premutation allele in Fragile X Messenger Ribonucleoprotein gene. While recommendations from fertility societies advocate for comprehensive screening, opinions differ on the mandatory implementation of expanded carrier screening. CONCLUSIONS: In conclusion, the genetic tests and the pre and post-test counseling is imperative to optimize reproductive outcomes in the oocyte donation process.

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3. Barnes SJK, Thomas M, McClintock PVE, Stefanovska A. Theta and alpha connectivity in children with autism spectrum disorder. Brain Commun;2025;7(2):fcaf084.

Spontaneous electroencephalography (EEG) measurements have demonstrated putative variations in the neural connectivity of subjects with autism spectrum disorder, as compared to neurotypical individuals. However, the exact nature of these connectivity differences has remained unknown, a question that we now address. Resting-state, eyes-open EEG data were recorded over 20 min from a cohort of 13 males aged 3-5 years with autism spectrum disorder, and nine neurotypical individuals as a control group. We use time-localized, phase-based methods of data analysis, including wavelet phase coherence and dynamical Bayesian inference. Several 3 min signal segments were analysed to evaluate the reproducibility of the proposed measures. In the autism spectrum disorder cohort, we demonstrate a significant (P < 0.05) reduction in functional connectivity strength across all frontal probe pairs. In addition, the percentage of time during which frontal regions were coupled was significantly reduced in the autism spectrum disorder group compared to the control group. These changes remained consistent across repeated measurements. To further validate the findings, an additional resting-state EEG dataset (eyes open and closed) from 67 individuals with autism spectrum disorder and 66 control group individuals (male, 5-15 years) was assessed. The functional connectivity results demonstrated a reduction in theta and alpha connectivity on a local, but not global, level. No association was found with age. The connectivity differences observed suggest the potential of theta and alpha connectivity as biomarkers for autism spectrum disorder. Additionally, the robustness to amplitude perturbations of the methods proposed here makes them particularly suitable for the clinical assessment of autism spectrum disorder and of the efficacy of therapeutic interventions.

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4. Begeer S, Ten Haaf M, Staal WG. [Autism diagnosis at an early or late age: need for more objective assessment]. Ned Tijdschr Geneeskd;2025 (Mar 10);169

Autism is classified based on the behavior and development of a child or adult. Subjective assessment plays a significant role during the diagnostic process. Recently, various methods have been developed to enhance diagnostic procedures with more objective instruments. By reviewing recent scientific literature, clinical guidelines, and case studies from practice, a perspective on the current state of the field is provided.

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5. Blázquez A, Rodriguez-Revenga L, Alvarez-Mora MI, Calvo R. Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing. Front Psychiatry;2025;16:1515793.

Autism spectrum disorder (ASD) refers to a group of complex neurodevelopmental disorders and is characterized by impaired reciprocal social interaction and communication, as well as the presence of restricted interests and stereotyped and repetitive behaviors. As a complex neurodevelopmental disorder, the phenotype and severity of autism are extremely heterogeneous, with differences from one patient to another. Chromosome microarray (CMA) and fragile X syndrome analyses has been used as a powerful tool to identify new candidate genes for ASD. METHODS: In the present study, CMA was first used to scan for genome-wide copy number variants in the patient, and no clinically significant copy number variants were found. Exome sequencing (ES) was used for further genetic testing. RESULTS: ES was performed on 20 subjects. Eighty percent of our sample presented intellectual disability. Other co-occurring clinical conditions included speech disorders, psychomotor delay, the presence of dysmorphic features and medical co-morbidities. A pathogenic variant was identified in 10 patients (ADNP, FBN1, WAC, ASXL3, NR4A2, ALX4, ANKRD1, POGZ, SHANK3 and BPTF). Patients with a positive finding in ES were more likely to present a dysmorphic trunk, more than three dysmorphic features, hypotonia, psychomotor delay and strabismus. CONCLUSIONS: ES offers expanded diagnostic options for patients with ASD who are negative on CMA. However, further studies are needed for a better understanding of ASD etiology and also the different phenotypes.

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6. Cai Q, Feng F, Wang H, Tian Y, Luo R, Yang F, Qian X, Zhou Z. A Novel KMT2E Splicing Variant as a Cause of O’Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype. Int J Dev Neurosci;2025 (Apr);85(2):e70012.

INTRODUCTION: O’Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with KMT2E gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and macrocephaly or microcephaly; in some patients, it may manifest as autism or epilepsy. METHODS: Trio whole-exome sequencing was performed on a female infant with unexplained West syndrome and developmental regression. A de novo splicing variant in the KMT2E gene was identified. The effects of this variant were analysed via a minigene splice assay and in vitro reverse transcription PCR. RESULTS: The patient presented with spasmodic seizures and developmental delay at 6 months of age. The video electroencephalogram (EEG) displayed hypsarrhythmia. Brain MRI revealed abnormal signals around the lateral ventricles and decreased white matter volume. A novel splicing variant in the KMT2E gene (NM_182931.3: c.1248_1248+9del) was identified in our proband. Sanger sequencing confirmed that the variant was not inherited from her parents. The in vitro minigene assay confirmed that c.1248_1248+9del resulted in exon 12 skipping. CONCLUSION: To our knowledge, this is the first definite report of ODLURO syndrome with West syndrome as the original manifestation. The deleterious effects of KMT2E c.1248_1248+9del were demonstrated in our proband. Splicing variants in the KMT2E gene are rare, and our study expands the phenotype and genotype of ODLURO syndrome. Additional studies are needed to explore the genotype-phenotype correlations of this disease.

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7. Gao W, Cai Q, Ying X, Zhao B. Establishing a Mouse Model of NL3R617W-Associated Autism Spectrum Disorder for a Functional Study. Actas Esp Psiquiatr;2025 (Mar);53(2):253-266.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and limited behavior. Despite the association of numerous synaptic gene mutations with ASD, the presence of behavioral abnormalities in mice expressing autism-associated R617W mutation in synaptic adhesion protein neuroligin-3 (NL3) has not been established. This work focuses on establishing a mouse model of ASD caused by NL3 R617W missense mutation (NL3R617W) and characterizing and profiling the molecular as well as behavioral features of the animal model. METHODS: The expression and distribution of NL3R617W mutant protein in the 293T cell membrane and intracellular NL3 was detected by using immunofluorescence approach. Meanwhile, synaptic markers (Synapsin I, vesicular glutamate transporter (VGluT) I and vesicular γ-aminobutyric acid transporter (VGAT)) and synapse number were detected with a confocal fluorescence microscope. Thereafter, the effect on NL3R617W was verified. The expression of synaptic proteins, postsynaptic density protein-95 (PSD95) and Src homology domain and multiple ankyrin repeat domains protein 3 (SHANK3), was verified by Western blot. The interaction between NL3 and neurexin 1 (NRXN1) was studied by means of co-immunoprecipitation. The behavior of autistic mice induced by NL3R617W mutation was examined using the Morris water maze and the Y maze. NL3R617W mutant mice were assessed in the open field, and three-chamber test was conducted to assess and observe the presence of hyperactivity, repetitive behavior, friendliness, and social novelty. RESULTS: The results indicated that the NL3 mutation could influence the interaction between NL3 and NRXN1, and inhibit the expression of VGluT I. Nevertheless, NL3 mutation would not influence the expression of NL3 on cell membrane, the intracellular distribution of NL3, or the endoplasmic reticulum retention. The outcomes of animal studies demonstrated that the ASD mice with NL3R617W exhibited a significant decrease in the capacity for spatial memory and exploration, as well as the expression levels of the postsynaptic scaffolding proteins, PSD95 and SHANK3 (p < 0.05). The number of excitatory synapses in hippocampal cornu ammonis (CA)1 and CA3 and the sensory cortex was also significantly reduced (p < 0.01). Compared to the control mice, the NL3R617W mutant mice were less active in the open field (p < 0.001), a finding consistent with the three-chamber test result showing reduced degree of activity. Furthermore, compared to the control mice, the NL3R617W mutant animals spent less time with stranger mice (p < 0.05). CONCLUSIONS: NL3R617W mutation may inhibit the expression of postsynaptic scaffolding proteins by influencing the interaction with NRXN1, thus inhibiting synapse formation and reducing the number of excitatory synapses.

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8. Ghai S, Eshetu A, Corbett A, Ballard C, Aarsland D, Hampshire A, O’Nions E, Mandy W, Stott J, Stewart GR, John A. The Association between Autism Spectrum Traits and Age-Related Spatial Working Memory Decline: A Large-Scale Longitudinal Study. Gerontologist;2025 (Mar 12)

BACKGROUND AND OBJECTIVES: Based on mixed findings from previous research, researchers have hypothesised autism may be a protective or risk factor for age-related cognitive decline/dementia, or that autism does not influence it (parallel ageing). To differentiate between hypotheses, longitudinal studies that account for autism underdiagnosis, are needed and lacking. This study examined if higher autistic traits in adults aged 50+ are associated with a greater risk of spatial working memory (SWM) decline, a key cognitive domain affected in both healthy aging and autism. RESEARCH DESIGN AND METHODS: Participants from the online PROTECT cohort (n = 13,390) were classified into three groups based on autism spectrum traits (AST): high (H-AST, n = 205), intermediate (I-AST, n = 589), and no traits (COA, n = 12,451). SWM performance was captured annually across 7 years. Growth mixture models (GMM) and latent growth curve models (LGCMs) were estimated to examine the relationship between AST and SWM. RESULTS: GMMs revealed an optimal 1-class quadratic solution, consistent across groups. There were no significant differences between AST groups in baseline SWM (p = 0.837). AST were not associated with SWM at baseline (B = 0.01, SE = 0.05, p = 0.901) or SWM trajectory (B = 0.00, SE = 0.01, p = 0.856), regardless of accounting for covariates. DISCUSSION AND IMPLICATIONS: Findings suggest a single SWM trajectory in middle-aged/older adults with higher autistic traits and no autistic traits. Future research should address if these broader autism phenotype results are replicated in diagnosed autism groups.

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9. Girault JB. The developing visual system: A building block on the path to autism. Dev Cogn Neurosci;2025 (Mar 12);73:101547.

Longitudinal neuroimaging studies conducted over the past decade provide evidence of atypical visual system development in the first years of life in autism spectrum disorder (ASD). Findings from genomic analyses, family studies, and postmortem investigations suggest that changes in the visual system in ASD are linked to genetic factors, making the visual system an important neural phenotype along the path from genes to behavior that deserves further study. This article reviews what is known about the developing visual system in ASD in the first years of life; it also explores the potential canalizing role that atypical visual system maturation may have in the emergence of ASD by placing findings in the context of developmental cascades involving brain development, attention, and social and cognitive development. Critical gaps in our understanding of human visual system development are discussed, and future research directions are proposed to improve our understanding of ASD as a complex neurodevelopmental disorder with origins in early brain development.

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10. Hunt AD, Jaeggi AV. The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism. Biol Rev Camb Philos Soc;2025 (Mar 11)

Evolutionary explanations of mental disorders are a longstanding aim of evolutionary psychiatry, but have suffered from complexities including within-disorder heterogeneity and environmental effects of contemporary societies obscuring possible ancestral functions. Studying the relevant processes of human evolution directly is not possible, so hypotheses have remained speculative, exaggerating « just-so storytelling » critiques. This is despite significant evidence existing in genetics, neuroscience and epidemiology, all of which bears some inferential relevance to evolutionary hypotheses, but which is often not marshalled in a systematic way. To utilise this evidence best to investigate evolutionary explanations of psychiatric (or other) traits we present a novel framework of evidence synthesis and analysis and exemplify it by systematically reviewing evidence related to autism. In the five stages of this « DCIDE framework » analysis, Description identifies a trait to explain and Categorisation initially excludes verifiably non-adaptive cases by utilising evidence from genetics, neuroscience, and environmental factors. Integration then hones a target for adaptive explanation by considering evidence of age of onset, environmental effects, duration, prevalence and sex differences, incorporating relevant correlated traits visible to selection. Evolutionary hypotheses are then Depicted and Evaluated for their ability to explain all the evidence at hand, using standardised areas of evidence and theoretically motivated principles (e.g. traits arising at birth and lasting for life have different plausible explanations than traits arising in adolescence and receding in adulthood). Competing evolutionary hypotheses can thus be systematically compared for their sufficiency in explaining a wide range of available evidence. In the DCIDE review of autism, when Described with current diagnostic criteria, up to 20% of cases Categorise as non-adaptive, primarily caused by de novo mutations and environmental trauma. The remaining cases are eligible for adaptive explanation. For Integrating genetically correlated phenotypes, evidence of high prevalence of subclinical familial traits and camouflaged female cases is necessary. Competing Depictions contrast a high intelligence by-product hypothesis with social niche specialisation for high « systemising » cognition. In Evaluation, broad evidence supports the social niche hypothesis while the intelligence by-product hypothesis fails to predict various lines of evidence. This provides not only the most robust synthesis of autism research relevant to evolutionary explanation to date, but is a first example of how the structure of the DCIDE framework can allow improved systematic evolutionary analysis across psychiatric conditions, and may also be adopted to strengthen evolutionary psychology more generally, countering just-so storytelling and cherry-picking critiques.

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11. Ikehara M, Kashida N, Ishida R, Mizui R, Makinodan M, Yamamuro K. Influence of self-esteem on health-related quality of life in children and adolescents with autism spectrum disorders. PCN Rep;2025 (Mar);4(1):e70079.

AIM: Autism spectrum disorder (ASD) is a neurodevelopmental condition that markedly impairs the physical, emotional, and social domains of health-related quality of life (HRQOL). Children with ASD typically report lower HRQOL than their neurotypical peers. This study investigated the impact of self-esteem and depressive symptoms on HRQOL in children with ASD and explored the discrepancies between parent-reported and self-reported HRQOL. METHODS: This study involved 94 participants, comprising 50 children with ASD and 44 typically developed. HRQOL was measured using the J-KIDSCREEN-52 (self-reported and parent-reported). Self-esteem, depressive symptoms, and social support were assessed using the Rosenberg Self-Esteem Scale, the Depression Self-Rating Scale for Children, and the Multidimensional Scale of Perceived Social Support, respectively. Discrepancies between parent-reported and self-reported HRQOL were examined. Multiple regression analyses were performed to determine the influence of depressive symptoms and self-esteem on HRQOL. RESULTS: Children with ASD showed markedly lower HRQOL than their neurotypical peers. Discrepancies between parent-reported and self-reported HRQOL revealed differing perspectives. Higher depressive symptoms were strongly correlated with poorer HRQOL. Conversely, higher self-esteem was linked to better HRQOL, notably in terms of self-perception. Social support also markedly influenced HRQOL. CONCLUSION: This study underscores the necessity of addressing depressive symptoms, self-esteem, and social support as interventions to enhance HRQOL in children with ASD. The differences between parent-reported and self-reported HRQOL highlight the need to incorporate both views into clinical assessments for comprehensive and effective interventions. Future research should explore these dynamics longitudinally and across diverse populations to refine the intervention strategies.

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12. Jary M, Martín-González I, Vicente A, Castroviejo E. Performance of autistic adults on conversational implicatures: A comparison of material and behavioural inferences. J Commun Disord;2025 (Feb 28);115:106509.

This paper compares the performance of autistic and neurotypical participants in discourse-completion tasks that require the identification of two types of particularised conversational implicature. Material implicatures are those in which the inferential relationship from what is said to the implicature can be reconstructed without recourse to descriptions of the speaker’s behaviour and the reasons underlying it, while behavioural implicatures do require such descriptions. We hypothesised that autistic participants would perform on a par with neurotypical participants in the material cases, but less well than neurotypicals in the behavioural cases, given that the latter make greater demands on theory of mind. In fact, we found that autistic participants’ performance mirrored that of neurotypicals in both conditions. We note a general tendency in the literature for autistic individuals to perform well on tests of comprehending implicit communication, in contrast to attested and self-reported difficulties in this area. We speculate that this mismatch might be explained in terms of a difference in underlying competence and the performance demands of real-world interactions.

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13. Jin B, Liu Q, Tang J, Zhao Y, Xin J, Zhou Y, Cai H, Huo Z, Chen X, Bai Y. [Qihuang needle therapy for autism spectrum disorder with sleep disorder: a multi-center randomized controlled trial]. Zhongguo Zhen Jiu;2025 (Mar 12);45(3):322-326.

OBJECTIVE: To observe the clinical efficacy of Qihuang needle therapy for autism spectrum disorder (ASD) children with sleep disorder. METHODS: A total of 60 ASD children with sleep disorder were randomly divided into an observation group and a control group, 30 cases in each group. Both groups were treated with structured education intervention, 60 min each time, once a day, 6 times a week. Qihuang needle therapy was applied at Yintang (GV24(+)), Baihui (GV20) and bilateral Jueyinshu (BL14), Xinshu (BL15) in the observation group, multi-direction needling was delivered and without needle retaining. The treatment was given 2 times a week, each treatment was delivered at interval of 2 days at least. Behavioral intervention was adopted in the control group. Treatment for consecutive 12 weeks was required in both groups. Before and after treatment, the scores of children’s sleep habits questionnaire (CSHQ), the autism behavior checklist (ABC), the childhood autism rating scale (CARS), and the childhood autism behavior scale (CABS) were observed in the two groups. RESULTS: After treatment, the scores of CSHQ, ABC, CARS and CABS were decreased compared with those before treatment (P<0.01), and the above scores in the observation group were lower than those in the control group (P<0.05). CONCLUSION: Qihuang needle therapy can effectively treat ASD with sleep disorder, improve the core symptoms of ASD and the sleep quality.

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14. Kang J, Lv S, Li Y, Hao P, Li X, Gao C. The effects of neurofeedback training on behavior and brain functional networks in children with autism spectrum disorder. Behav Brain Res;2025 (Mar 12);481:115425.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with an unclear pathogenesis to date. Neurofeedback (NFB) had shown therapeutic effects in patients with ASD. In this study,we analyzed the brain functional networks of children with ASD and investigated the impact of NFB targeting the beta rhythm training on these networks. The Autism Behavior Checklist (ABC) and Social Response Scale (SRS) were employed to evaluate the effects of NFB training on the behavioral abilities of children with ASD. We compared the differences in static and dynamic brain functional networks between ASD and Typically Developing (TD) children, also explored the changes in these networks in ASD children after 20 sessions of NFB training. The Weighted Phase Lag Index (wPLI) was used to construct static functional networks, and the Fuzzy Entropy (FuzzyEn) algorithm was further employed to measure the complexity of static functional connectivity and construct dynamic functional networks. This allowed the analysis of functional connectivity and fluctuations in the static functional networks of ASD and TD children, as well as the time variability of the dynamic functional networks. Additionally, the study explored the changes in brain functional networks and behavioral scales before and after NFB training. Results from behavioral scales indicated significant improvements in cognitive, communication, language, and social scores in ASD children following NFB intervention. EEG analysis revealed that static functional connectivity was lower, connectivity variability was higher, and temporal variability was greater in ASD children compared to TD children. Following NFB training, increased functional connectivity, reduced connectivity variability in the Delta frequency band, and decreased temporal variability were observed in ASD children. The results revealed abnormalities in both static and dynamic functional networks in children with ASD, with NFB training showed potential to modulate these networks. While our results showed that NFB training can assist participants in regulating connectivity and temporal variability in specific brain regions, robust evidence for its effectiveness in alleviating core symptoms of ASD remained limited.

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15. Koenig J, Bishop L. Using National Survey Data to Estimate Healthcare Communication Disparities for Adults With Intellectual and Developmental Disabilities. J Intellect Disabil Res;2025 (Mar 11)

BACKGROUND: Previous studies have identified considerable health outcome disparities for adults with intellectual and developmental disabilities (IDD) as well as poor or ineffective communication between adults with IDD and their medical providers. METHODS: Using National Health Interview Survey (NHIS) data, this paper uses logistic regression to estimate disparities in healthcare communication and satisfaction between adults with IDD, adults with non-IDD disabilities, and adults with no reported disabilities, controlling for sociodemographic characteristics. Communication quality is measured with survey questions about whether medical providers are respectful, ask for patients’ opinions, and offer understandable medical information. RESULTS: We identified sizeable disparities in communication quality and satisfaction between adults with non-IDD disabilities and no reported disabilities. Adults with IDD experienced significantly lower odds of receiving understandable information compared to adults with no reported disabilities. There are suggestive evidence that adults with IDD have lower odds of being satisfied with healthcare, having their opinion asked, and feeling respected. CONCLUSIONS: There are healthcare communication and satisfaction disparities between adults with and without IDD or other disabilities. Future research should characterise the size and exact nature of these disparities in communication quality and satisfaction for those with IDD. These findings can inform interventions and trainings to improve communication quality and satisfaction for those with all forms of disability.

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16. Li S, Hua R, Han X, Xu Y, Li M, Gao L, Ma R, Meng W, Mao A, Wang J, Wang Y. Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome. J Transl Med;2025 (Mar 11);23(1):307.

BACKGROUND: Next-generation sequencing (NGS) has been applied for carrier screening, effectively reducing the incidence of severe diseases. However, some severe, high-prevalent and complex diseases, including spinal muscular atrophy (SMA), α-/β-thalassemia, 21-hydroxylase deficiency (21-OHD), and fragile-X syndrome (FXS), cannot be fully addressed by NGS, resulting in a high residual risk ratio. This study aims to evaluate the clinical utility of a long-read sequencing (LRS) panel for carrier screening of these five complex diseases. METHODS: A total of 2926 participants were retrospectively enrolled from International Peace Maternity and Child Health Hospital from Jan 2019 to Dec 2022. All the participants were previously screened for 149 genes correlated to 147 diseases by NGS. The samples were collected and analyzed with the LRS panel targeting the five complex diseases. RESULTS: LRS identified 236 carrier variants, including 54 for SMA, 113 for α-thalassemia, 19 for β-thalassemia, 47 for 21-OHD, and three for FXS. NGS identified only 56.4% (133/236) of the variants detected by LRS. NGS failed to detect three SMA carriers with SMN1 intragenic variants, while reported 10 false-positive carriers for α-thalassemia (HKαα miscalled as -α3.7). Both 21-OHD and FXS were beyond its detection scope. NGS identified only three of the seven at-risk couples determined by LRS. The total estimated at-risk couple rate for 151 genes in NGS and LRS panels was 1.0996%. SMA, α-/β-thalassemia, 21-OHD, and FXS were among the top 30 high-prevalent diseases and had a combined at-risk couple rate of 0.2433%, accounting for 22.1% of the total ratio. NGS could only identify 22.7% of the at-risk couples for the five diseases in the LRS panel. CONCLUSIONS: Comprehensive carrier screening for high-prevalent diseases had higher clinical utility than expanding the list of low-prevalent diseases. Incorporating LRS into the NGS carrier screening strategy would facilitate more effective carrier screening.

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17. Makita K, Kitada R, Makino T, Sakakihara N, Fukuoka A, Kosaka H. Atypical tactile preferences in autism spectrum disorder: Reduced pleasantness responses to soft objects resembling human body parts. Psychiatry Clin Neurosci;2025 (Mar 12)

AIM: Previous studies have reported atypical sensory responses in individuals with autism spectrum disorder (ASD) and their implications for social touch. Although adults with ASD often report discomfort with being touched by others, their preferences for the physical properties of objects are less well understood. In a prior study, we observed that, in typically developed (TD) adults, compliance (a physical correlate of softness) increased tactile pleasantness for deformable surfaces up to levels comparable to those of human body parts. In the present study, we conducted psychophysical experiments to test whether individuals with ASD show atypical affective responses to soft objects resembling human body parts. METHODS: Thirty-six adults with ASD and 36 TD adults numerically estimated the perceived pleasantness or softness while lightly pressing urethane rubbers with their right index fingers. RESULTS: The results revealed that pleasantness increased as a function of compliance, but this increase was significantly smaller for patients with ASD than TD adults, particularly at compliance levels including human body parts. However, the perceived softness increased as a function of compliance highly similarly between the ASD and TD groups. CONCLUSIONS: These findings demonstrate an atypical preference of individuals with ASD for soft objects such as human body parts, which may help explain their tendency to avoid social touch.

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18. Milton D, Moore A, Martin N. From humble beginnings: Reflections on 10 years of the Participatory Autism Research Collective. Autism;2025 (Mar 11):13623613251319887.

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19. Minnigulova A, Karpychev V, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O, Arutiunian V. Altered thalamotemporal structural connectivity is associated with autistic traits in children with ASD. Behav Brain Res;2025 (Mar 12);481:115414.

BACKGROUND: Thalamocortical functional and structural connectivity alterations may contribute to clinical phenotype of Autism Spectrum Disorder (ASD). As previous studies focused mainly on thalamofrontal connections in ASD, we comprehensively investigated the thalamic functional networks and white matter pathways projecting also to temporal, parietal, occipital lobes and their associations with core and co-occurring conditions of this population. METHODS: A total of 38 children (19 with ASD) underwent magnetic resonance imaging and behavioral assessment. Functional and structural scans were processed to analyze between-group thalamic connectivity differences and their relationships to measurements of autistic traits and language abilities. RESULTS: No functional differences were found between groups across 20 networks in each hemisphere. However, we showed that the diffusion properties of thalamocortical pathways projecting to the right and left temporal lobes were disrupted in children with ASD. Additionally, there was a significant association between diffusion differences of thalamotemporal tracts and severity of autistic traits. CONCLUSIONS: Our findings on altered thalamotemporal structural but not functional connectivity contribute to the understanding of white matter organization of thalamocortical pathways in children with ASD.

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20. Mohan A, Roberts J. Associations Between Residence Type and Health Outcomes for Individuals with Developmental Disabilities Following the COVID-19 Pandemic: A Quantitative Analysis. Dela J Public Health;2024 (Dec);10(5):32-41.

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21. Oliveira ARP, Silva LFD, Souza TV, Góes FGB, Moraes J. Nurse participation in detecting signs of childhood autism in Primary Health Care. Rev Bras Enferm;2025;78(1):e20230530.

OBJECTIVES: to understand nurse participation in the process of early detection of warning signs of autism spectrum disorders (ASD) in childcare consultations. METHODS: qualitative, exploratory research, conducted through semi-structured interviews conducted between August and November 2022 with 27 nurses from family clinics in the city of Rio de Janeiro. The IRaMuTeQ® software was used for data treatment. Interpretations and theorizing were guided by Hildegard Peplau’s Theory of Interpersonal Relations. RESULTS: lexical analysis pointed out thematic aspects related to the dynamics of development assessment, interpersonal relationship practices between nurses and family members as well as limits and interrelationships between healthcare professionals involved in early detection. FINAL CONSIDERATIONS: childcare consultations are characterized as a unique resource for the early detection of warning signs of ASD. Nurses need to be recognized as strategic agents in the face of this demand, especially in caring for socioeconomically vulnerable families.

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22. Qin Q, Fan L, Zeng X, Zheng D, Wang H, Li M, Jiang Y, Wang H, Liu H, Liang S, Wu L, Liang S. Mesenchymal stem cell-derived extracellular vesicles alleviate autism by regulating microglial glucose metabolism reprogramming and neuroinflammation through PD-1/PD-L1 interaction. J Nanobiotechnology;2025 (Mar 11);23(1):201.

Neuroinflammation triggered by microglia activation is hallmark of autism spectrum disorder (ASD), and this process includes crucial metabolic reprogramming from oxidative phosphorylation to glycolysis, which may cause neuron loss and functional impairment. The inhibitory immune checkpoint programmed cell death protein 1 (PD-1) on immune cells is an important target for tumor immunotherapy. However, the immunomodulatory effects of PD-1 in ASD remains to be elusive. Mesenchymal stem cell-derived extracellular vesicles (MSC-EVs) exhibit immunomodulatory capabilities in a range of neurological diseases. Our findings indicated the expression of PD-L1 on MSC-EVs, potentially facilitating signaling to PD-1-expressing microglia. Here, we showed how MSC-EVs activated of PD-L1/PD-1 axis and ameliorated glycolysis, neuroinflammation and autism-like behaviors. After first detecting elevated glycolysis and neuroinflammation in prefrontal cortex (PFC) tissue from the maternal immune activation (MIA) mice, we also demonstrated that PD-1 expression level was upregulated in microglia. Following given MSC-EVs carried PD-L1 into adult MIA offspring mice via intranasal administration, which bound with PD-1 on microglia and then the autism-like behaviors were alleviated as well. Further experiments verified that MSC-EVs could decreased the level of glycolysis and neuroinflammation by PD-1/ERK/HIF-1α pathway in the primary microglia in PFC of MIA offspring mice. Pharmacological blockade and genetic inhibition of PD-1 could weaken the effect of MSC-EVs and aggravate microglial dysfunction, glycolysis and autism-like behaviors in MIA offspring mice. Futhermore, PD-L1 deficient weakened the effect of MSC-EVs on neuroinflammation, glycolysis and autism-like behaviors in MIA offspring mice. Our research indicated the significant immunomodulatory capabilities of MSC-EVs, which play an important role in reprogramming microglial glucose metabolism and suppressing neuroinflammation in ASD. By activating the PD-L1/PD-1 axis and inhibiting the downstream ERK/HIF-1α pathway, MSC-EVs were found to alleviate autism-like behaviors, which revealing a novel pathological mechanism and offering promising therapeutic insights into ASD.

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23. Rivera RA, Robertson MC, McCleery JP. Exercise Interventions for Autistic People: An Integrative Review of Evidence from Clinical Trials. Curr Psychiatry Rep;2025 (Mar 12)

PURPOSE OF REVIEW: This review integrates recent findings from randomized controlled clinical trial (RCT) research examining the impacts of physical exercise activities on various aspects and areas of functioning for autistic individuals. RECENT FINDINGS: Recent meta-analytic and clinical trials research indicates physical exercise intervention programs improve social and communication skills for autistic children and adolescents, improve executive functioning skills for autistic children, improve sleep-related behavior for autistic children and adolescents, and may be helpful for improving physical health for autistic children. There is very limited RCT research evidence on exercise intervention approaches or impacts for autistic adults, for autistic girls or women, for autistic people with co-occurring intellectual disability, and for reducing negative emotional symptoms (e.g., anxiety, depression) for any autistic population. The extant clinical trials research provides convincing, consistent evidence for positive impacts of physical exercise programs on multiple areas of functioning for autistic children and adolescents. Additional research is needed to determine and ensure potential impacts of physical exercise activity programs for important autistic sub-populations, including adults.

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24. Sabanciogullari S, Yildırım F. Group Counseling Education Program for Parents of Children With Autism Spectrum Disorder: Effect on Parents’ Psychological Resilience, Life Satisfaction, and Family Functioning. J Psychosoc Nurs Ment Health Serv;2025 (Mar 14):1-10.

PURPOSE: To investigate the effects of a group counseling education program (GCEP) provided to parents of children with autism spectrum disorder (ASD) on parents’ psychological resilience, life satisfaction, and family functioning. METHOD: This experimental study was conducted with 30 parents of children with ASD. Data were collected using a Personal Information Form, the Adult Psychological Resilience Scale, Satisfaction With Life Scale, and Family Assessment Device. The GCEP, comprising 10 sessions, was provided to the intervention group once per week. RESULTS: The GCEP significantly increased psychological resilience levels in the intervention group compared to the control group. Although there were no significant differences between groups regarding Family Assessment Device subscale scores before the GCEP, after the program, mean scores on the subscales of problem solving, communication, roles, and behavioral control of the intervention group were significantly lower than those of the control group. No significant differences were observed in life satisfaction between groups. CONCLUSION: The GCEP was effective in improving psychological resilience and family functioning. Family counseling programs for raising awareness and provision of psychosocial support may be developed and applicable in relation to in-family relationships, care and responsibilities for the child, and problem solving for parents of children with ASD. [Journal of Psychosocial Nursing and Mental Health Services, xx(xx), xx-xx.].

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25. Sanderson KA, Burke MM, Bumble JL. A Qualitative Study Exploring Ways to Support Parent Caregivers of Adults With Intellectual and Developmental Disabilities. J Appl Res Intellect Disabil;2025 (Mar);38(2):e70025.

BACKGROUND: Many parents are the primary caregivers for their adult children with intellectual and/or developmental disabilities. While there can be many benefits of caregiving, there can also be negative consequences for the parent caregiver and, in turn, for their adult child with intellectual and/or developmental disabilities. Given the critical care that parents provide to their adult children with intellectual and/or developmental disabilities, we aimed to understand the supports parents need to be effective caregivers. METHOD: Qualitative data (write-in responses) from a national survey completed by 315 parents of adults with intellectual and/or developmental disabilities were analysed using thematic analysis. RESULTS: Four themes emerged from the data, including the need fortangible support, social support, help navigating disability services and resources, and assistance with future planning. CONCLUSIONS: Our findings point to the need for financial compensation for parent caregivers of adults with intellectual and/or developmental disabilities, enhanced disability services, and spaces for families to connect and share resources.

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26. Shen G, Green HL, McNamee M, Franzen RE, DiPiero M, Berman JI, Ku M, Bloy L, Liu S, Airey M, Goldin S, Blaskey L, Kuschner ES, Kim M, Konka K, Miller GA, Edgar JC. White matter microstructure as a potential contributor to differences in resting state alpha activity between neurotypical and autistic children: a longitudinal multimodal imaging study. Mol Autism;2025 (Mar 11);16(1):19.

We and others have demonstrated the resting-state (RS) peak alpha frequency (PAF) as a potential clinical marker for young children with autism spectrum disorder (ASD), with previous studies observing a higher PAF in school-age children with ASD versus typically developing (TD) children, as well as an association between the RS PAF and measures of processing speed in TD but not ASD. The brain mechanisms associated with these findings are unknown. A few studies have found that in children more mature optic radiation white matter is associated with a higher PAF. Other studies have reported white matter and neural activity associations in TD but not ASD. The present study hypothesized that group differences in the RS PAF are due, in part, to group differences in optic radiation white matter and PAF associations. The maturation of the RS PAF (measured using magnetoencephalography(MEG)), optic radiation white matter (measured using diffusion tensor imaging(DTI)), and associations with processing speed were assessed in a longitudinal cohort of TD and ASD children. Time 1 MEG and DTI measures were obtained at 6-8 years old (59TD and 56ASD) with follow-up brain measures collected ~ 1.5 and ~ 3 years later. The parietal-occipital PAF increased with age in both groups by 0.13 Hz/year, with a main effect of group showing the expected higher PAF in ASD than TD (an average of 0.26 Hz across the 3 time points). Across age, the RS PAF predicted processing speed in TD but not ASD. Finally, more mature optic radiation white matter measures (FA, RD, MD, AD) were associated with a higher PAF in both groups. Present findings provide additional evidence supporting the use of the RS PAF as a brain marker in children with ASD 6-10 years old, and replicate findings of an association between the RS PAF and processing speed in TD but not ASD. The hypothesis that the RS PAF group differences (with ASD leading TD by about 2 years) would be explained by group differences in optic radiation white matter was not supported, with brain structure-function associations indicating that more mature optic radiation white matter is associated with a higher RS PAF in both groups.

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27. Simeon R, Galeoto G, Cracolici S, Panuccio F, Berardi A. Treatments for Eating Disorders in People with Autism Spectrum Disorder: A Scoping Review. Pediatr Rep;2025 (Mar 12);17(2)

BACKGROUND: This scoping review aims to synthesize existing evidence on non-pharmacological interventions for managing food selectivity in individuals with autism spectrum disorder (ASD). Specifically, it explores sensory, behavioral, and environmental factors influencing intervention outcomes and examines the role of occupational therapists (OTs) within multidisciplinary teams. METHODS: A search was conducted across MEDLINE, EBSCO, Web of Science, OTseeker, and SCOPUS from August 2023 to October 2023. Only experimental studies published in English were included, focusing on behavioral treatments and/or occupational therapy interventions. RESULTS: A total of 1618 studies were identified. After removing duplicates (170 records), 259 full-text articles were assessed for eligibility, resulting in 61 studies included for qualitative synthesis. CONCLUSIONS: The findings highlight a wide range of interventions, yet methodological inconsistencies and small sample sizes limit the strength of the evidence. While occupational therapists play an increasing role in feeding interventions, their specific impact remains underexplored. Future research should focus on larger, well-designed studies with standardized outcome measures to better define the effectiveness of interventions and the role of OTs within multidisciplinary teams.

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28. Steiner-Hofbauer V, Pintér YA, Mittmann G. Comparing the portrayal of #autism and #neurodiversity on TikTok: creators, content, and representation. Wien Med Wochenschr;2025 (Mar 11)

BACKGROUND: Social media is a significant source of information on health-related topics and neurodevelopmental disorders such as autism spectrum disorder (ASD). The public perception of ASD, as reflected on social media, can raise awareness but also increase stigma. This study examined ASD portrayal on TikTok, focusing on neurodiversity, content themes, creator identities, and the depiction of autistic individuals. MATERIALS AND METHODS: This exploratory study analyzed 100 TikTok videos: the 50 most-watched for #autism and the 50 most-watched for both #autism and #neurodiversity. The study reviewed metadata and content using publicly available data. RESULTS: Videos from the #autism sample encompassed 97% of all views and primarily portrayed entertaining content. Neurodiversity videos were more educational and less popular. Creators and portrayed individuals were primarily white. Adult autistic individuals are more ferequently represented in the #neurodiversity sample (30%), but children sill appear frequently (30% in the # neurodiversity and 38% in the #autism sample). Healthcare professionals (HCPs) were absent in the autism sample but appeared in 32% of neurodiversity videos. CONCLUSION: The portrayal of ASD differed widely in both samples. Both samples underrepresented ethnic minorities. As TikTok shapes public perception of ASD, HCPs should be aware of trending ASD-related content on TikTok in order to be able to combat misinformation.

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29. To JCS, Kung KTF. Sex-typical toy, activity, and playmate preferences in autistic and non-autistic children. Autism;2025 (Mar 12):13623613251321207.

Play, in particular sex-typical play, is important for affective, cognitive, and social development. There is limited research on sex-typical play in autistic children. The few prior studies on this topic relied heavily on reports or involvement of caregivers/parents, did not assess cognitive abilities, and examined a limited number of sex-typical play outcomes. The present study examined sex-typical play in 120 children without intellectual disability (30 autistic boys, 35 non-autistic boys, 20 autistic girls, 35 non-autistic girls) aged 4-11 years. Vocabulary and abstract reasoning were also assessed. Consistently across all five play measures (parent-reported composite play, self-reported activity preferences, self-reported toy preferences, self-reported playmate preferences, and observed toy play), there were medium or large, and mostly significant, differences between autistic and non-autistic boys, suggesting less male-typical/more female-typical play in autistic boys. Autistic and non-autistic boys did not differ in vocabulary, abstract reasoning, or age. No consistent, clear, or significant patterns emerged in comparisons of autistic and non-autistic girls. The more non-conforming play in autistic boys concurs with certain prior findings suggesting that the autistic community is not confined to social norms and shows increased gender diversity. The potential link between the unaltered play in autistic girls and camouflaging is considered.Lay abstractIn the non-autistic community, boys and girls tend to play differently, although these average differences do not apply to all the boys and girls. Little is known about similarities and differences in sex-typical play (e.g. playing with cars, playing with dolls, rough-and-tumble play, playing house) between autistic and non-autistic children. We looked at different aspects of sex-typical play such as toy, activity, and playmate preferences in autistic and non-autistic children without intellectual disability. Different methods including parent reports, self-reports, and play observation were used. We found some average differences between autistic and non-autistic boys. On average, compared with non-autistic boys, autistic boys played in a more non-conforming manner (less male-typical/more female-typical toy, activity, and playmate preferences). These findings are consistent with observations from other research studies suggesting that autistic individuals may defy social norms and express themselves in diverse ways. There were no differences between autistic and non-autistic girls. One possibility is that autistic girls may camouflage, or mask, their non-conforming play preferences, but further research is needed to test this possibility. The findings from this study can help families, professionals, and schools better understand how autistic boys and girls develop.

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30. Turna M, Eckert J, Meier-Böke K, Narava M, Chaliani I, Eickhoff SB, Schilbach L, Dukart J. Real world evidence for altered communication patterns in individuals with autism spectrum disorder. NPJ Digit Med;2025 (Mar 11);8(1):155.

Adults with autism spectrum disorder (ASD) may compensate for their social difficulties by resorting to more sequential forms of communication. Here, we study communication preferences in individuals with ASD and neurotypical controls by monitoring smartphone-based communication for verbal, written, and mixed app categories over a period of four months. We find ASD participants to prefer written over verbal communication, underscoring the importance of considering these preferences to facilitate social integration.

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31. Wang X, Chen M, Mei D, Shi S, Guo J, Gao C, Wang Q, Zhao S, Yan X, Zhang H, Wang Y, Guo B, Zhang Y. Somatostatin-expressing interneurons of prefrontal cortex modulate social deficits in the Magel2 mouse model of autism. Mol Autism;2025 (Mar 11);16(1):18.

Dysfunction in social interactions is a core symptom of autism spectrum disorder (ASD). Nevertheless, the neural mechanisms underlying social deficits in ASD are poorly understood. By integrating electrophysiological, in vivo fiber photometry, viral-mediated tracing, optogenetic and pharmacological stimulation, we show reduced intrinsic excitability and hypoactivity of SOM interneurons in medial prefrontal cortex (mPFC) in Magel2-deficient mice, an established ASD model, were required to social defects. Chemogenetic inhibition of mPFC SOM-containing interneurons resulted in reduced social interaction in wild-type Magel2 mice. These sociability deficits can be rescued by optogenetic activation by excitability of SOM in the mPFC and mPFC(SOM)-LS inhibitory pathway in Magel 2 knockout mice. These results demonstrate the hypoactivity for SOM action in the mPFC in social impairments, and suggest targeting this mechanism that may prove therapeutically beneficial for mitigating social behavioral disturbances observed in ASD.

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32. Yang X, Wei H, Li J, Li G, Zhang Y, Li H. Efficacy of sialic acid supplementation in early life in autism model rats. Sci Rep;2025 (Mar 12);15(1):8576.

Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental conditions, the etiology of which remains elusive. Sialic acid (SA) is an essential nutrient for nervous system development, and previous studies reported that the levels of SA were decreased in the blood and saliva of ASD children. However, it is not clear whether SA supplementation can alleviate behavioral problems in autism. We administered SA intervention in the VPA-induced autism model rats, evaluated behavior performance, and measured the levels of Gne and St8sia2 genes, BDNF and anti-GM1. At the same time, untargeted metabolomics was used to characterize the metabolites. It was found that the stereotypical behaviors, social preference and cognitive function were improved after SA supplementation. Additionally, the number of hippocampal neurons was increased, and the shape was normalized. Moreover, 94 differentially abundant metabolites were identified between the high dose SA and VPA groups. These changes in metabolites were correlated with pyrimidine metabolism, lysine degradation metabolism, biosynthesis of amino acids, mineral absorption, protein digestion and absorption, galactose metabolism, phenylalanine, tyrosine and tryptophan biosynthesis and phenylalanine metabolism. In conclusion, SA could ameliorate ASD-like phenotypes and change metabolites in autistic animals, which suggests that it may be a therapeutic approach for ASD.

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33. Zhang B, Qi Y, Yang Y, Zhang J. Research on the interface design of ASD children intervention APP based on Kano-entropy weight method. Front Psychiatry;2025;16:1508006.

BACKGROUND: In recent years, there has been a notable increase in the prevalence of Autism Spectrum Disorder (ASD) among children in China. To enhance the efficacy of ASD intervention apps and streamline the design process for designers, this study proposes an interface design research method for ASD intervention apps based on the Kano-entropy weight method. METHODS: First, the basic research process for ASD children is extracted by combining the characteristics of the Kano model and the entropy method. Additionally, representative app samples currently available on the market are collected and organized. Subsequently, the representative needs of ASD children are subjected to analysis and synthesis. Secondly, the data obtained from the questionnaires are organized, and the entropy method is employed to calculate the weight of the need indicators. Subsequently, the characteristics of the intervention apps and the magnitude of the weight values are employed in the analysis of different categories of needs. The case design practice is conducted with a focus on strengthening the effectiveness of the intervention apps from a human-computer interaction perspective, with a particular emphasis on relevant ASD children’s intervention training. The study employs the Kano-entropy weight method to analyze the demand indicators for ASD intervention apps in terms of content, usability, and visual design through survey analysis. RESULTS: This study compiled 26 pieces of user demand information, extracted 17 specific indicators, and classified them into three types: content-based, operable, and visual. The interface design of the intervention app focuses on improving emotional abilities. Further enrich the content of the ASD children’s intervention app, improve its operation, enhance visual appeal, provide reference and basis for subsequent related designs, and improve the effectiveness of intervention training. CONCLUSIONS: The objective is to enhance the efficacy of the apps from the perspective of human-computer interaction. This endeavor seeks to furnish pertinent theoretical references for the design of navigation interfaces for intervention apps and to provide effective assistance to educators and designers.

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