1. Alsalmi OA, Aljohani AI, Alharthi AA, Gharib AF, Alrubayee AR, Abbas RM, Alsuwat MA, Alzahrani KJ, Alsaleh BS. The prognostic significance of fragile X mental retardation syndrome-related protein 1 (FXR1) in breast cancer. Transl Cancer Res;2025 (Feb 28);14(2):980-989.

BACKGROUND: Breast cancer (BC) is a highly heterogeneous disease with variable histological appearance, biological features, clinical outcomes, and treatment responses. The number of BC cases in Saudi Arabia has more than tripled during the last 17 years to constitute 30% of all cancer cases in women. Therefore, greater efforts are needed to evaluate prognostic factors for BC in Saudi Arabia to improve prognostication and provide more personalized therapy. Recently, fragile X mental retardation syndrome-related protein 1 (FXR1) was identified as a novel biomarker that contributes to oncogenesis; however, its role in BC has not been well studied. This study aims to evaluate the clinicopathological significance of FXR1 in women with primary BC. METHODS: The protein levels of FXR1 in BC tissue samples (n=100) were determined immunohistochemically. The associations between FXR1 levels and clinicopathological parameters and outcomes were evaluated, and significant associations were validated by assessing FXR1 mRNA levels in publicly available cohorts in the BC Gene-Expression Miner database (version 5). RESULTS: High protein levels of FXR1 were significantly associated with tumor aggressiveness, including stage IIB and IIIC and hormone receptor negativity, the triple-negative BC (TNBC) subtype, and poor outcomes. Consistent with the protein results, high mRNA levels of FXR1 were significantly associated with hormone receptor negativity and the TNBC subtype. CONCLUSIONS: This study revealed that FXR1 is a prognostic factor for poor prognosis in women with BC. Further functional studies are needed to confirm its role in aggressive BC and its value as a therapeutic target.

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2. Ferrazzi G, Marchi M, Giuberti V, Politi V, Pingani L, Ferrari S, Galeazzi GM. Life project: a scoping review of assessment tools for persons with autism spectrum disorder. Ann Ist Super Sanita;2025 (Jan-Mar);61(1):30-41.

BACKGROUND: Persons with autism spectrum disorder (ASD) may face significant challenges during transition from adolescence to adulthood. This phase necessitates tailored support to address all needs, underscoring the importance of a comprehensive life project (LP) planning. This scoping review aims to identify methods and tools used in the development of LP for persons with ASD. METHODS: The preferred reporting items for systematic reviews and meta-analyses (PRISMA) extension for scoping reviews was used. The literature search was performed across Embase, Scopus, Web of Science, PubMed, CINAHL, and PsycINFO. The selection process involved screening titles and s, followed by full-text reading, data extraction, and narrative synthesis of findings. RESULTS: A total of 899 records were identified, and 8 studies were included in the review. Preference assessment and ecological balance emerged as crucial elements in developing LP. CONCLUSIONS: This review highlights the importance of tools that accurately capture individual preferences and support needs for persons with ASD but also reveals a gap in the literature concerning the development of tailored LP for this population.

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3. Fu S, Wang X, Chen Z, Huang Z, Feng Y, Xie Y, Li X, Yang C, Xu S. Abnormalities in brain complexity in children with autism spectrum disorder: a sleeping state functional MRI study. BMC Psychiatry;2025 (Mar 19);25(1):257.

BACKGROUND AND OBJECTIVE: The theory of complexity loss in neurodivergent brain is widely acknowledged. However, the findings of autism research do not seem to align well with this theory. We aim to investigate the brain complexity in children with ASD (Autism Spectrum Disorders) compared with the TD (Typical Developed) children in sleeping state. METHOD: 42 ASD children and 42 TD children were imaged using sleep-state functional magnetic resonance imaging (ss-fMRI), and brain complexity was analyzed by employing sample entropy (SampEn) and transfer entropy (TE). For the ASD group, we also investigated the relationship of symptom severity with SampEn and with TE. RESULTS: In compared with TD group, ASD group showed significant increased SampEn in the right inferior frontal gyrus. However, in the group of TD, 13 pairs of brain regions exhibit higher TE compared to the ASD group. In the ASD group, the TE of 5 pairs of brain regions is higher than in the TD group. CONCLUSION: This sleeping-state fMRI study provide evidence that ASD children exhibited aberrant brain complexity in compare with the TD children. The complexity of the autistic brain is composed of aberrant randomness in brain activity and anomalous information transmission between brain regions. We believe that brain complexity in ASD is a highly valuable area of research. Differences in the entropy of local brain regions, as well as in the transfer entropy between brain regions, may be related to the brain complexity observed in children with ASD.

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4. Fuqua A, Baker J, Morgan JJ, Higgins K. Effects of I-Connect to Increase Communication Initiations of Elementary Students on the Autism Spectrum. J Autism Dev Disord;2025 (Mar 19)

PURPOSE: The purpose of this research study was to determine the effect of self-monitoring with I-Connect on communication initiation attempts by elementary school students on the autism spectrum who are non-speaking or minimally speaking and participate in an alternate assessment. Initiations are essential for developing basic communication skills for this population of students. METHODS: This research study replicated a published study that used a physical token-based self-monitoring intervention to improve the initiation skills of students on the autism spectrum. The published study provided a benchmark for comparison with self-monitoring of initiations using the I-Connect application for self-monitoring. Participants in the study were three elementary school students aged 8-11 years on the autism spectrum who were non-speaking or minimally speaking and participated in the state’s alternate assessment. A multiple baseline design across participants visualized the effect of self-monitoring of initiations using I-Connect. RESULTS: Visual analysis demonstrated that all participants increased initiation levels comparable with the results of the benchmark study. Tau-U showed statistical significance of three potential demonstrations of effect. Pre- and post-study surveys and tests showed improved functional and verbal skills, and positive social outcomes. CONCLUSION: The outcomes add to the limited studies on technology-based self-monitoring of communication initiations by participants on the autism spectrum who are also non-speaking or minimally-speaking and who participate in an alternate assessment. The study limitations included lack of individualization, predictability of the fixed interval length of the intervention, and the potential for selection bias.

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5. Hua Z, Li T, Shi R, Wei R, Yi L. Activation of Thematic and Taxonomic Relations During Lexical-Semantic Processing in Autistic Children: Evidence From Eye Movements. Autism Res;2025 (Mar 19)

This study investigated the activation of thematic and taxonomic relations during online lexical-semantic processing in autistic children using an eye-tracking competition task. Thirty-six preschool-aged autistic children and 35 age-, gender-, and verbal-IQ-matched neurotypical (NT) children viewed arrays containing a target object, a thematically related competitor, a taxonomically related competitor, and an unrelated distractor while hearing the target word. Results revealed three key findings. First, both groups demonstrated activation of thematic and taxonomic relations during lexical processing, with comparable timing of activation onset. Second, while autistic children began to systematically orient attention to the target as quickly as NT children, they showed reduced overall attention to the target during lexical processing. Third, autistic children exhibited stronger activation of taxonomic relations and stronger taxonomic competition effects on target recognition compared to NT children, whereas their activation of thematic relations and thematic competition effects were comparable to NT children. These findings suggest that while the basic thematic and taxonomic activation processes remain robust in autistic children, and while their initial activation of the target and semantically related representations is as fast as that of NT children, the increased sensitivity to taxonomic relations in autistic children might interfere with the overall processing efficiency of target words. These results advance our understanding of lexical-semantic organization and processing in autism and provide implications for language intervention strategies.

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6. Kang QQ, Gao YF, Su W, Fan YL, Kong HB. Analysis of clinical and psychological characteristics of 225 children with autism spectrum disorder based on the C-PEP-3 scale. World J Psychiatry;2025 (Mar 19);15(3):101101.

BACKGROUND: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that affect children’s social interaction and communication skills and exert a serious effect on children’s perception, language, emotion, and especially social interaction development. AIM: To determine the clinical and psychological characteristics of children with ASD according to the C-PEP-3. METHODS: This retrospective study included 225 children with autism aged 2-7 years who were treated in our hospital from 2021 to 2024. The C-PEP-3 scale was used for assessment, and the evaluation results were analyzed. RESULTS: The comparison of children with ASD in the age groups of < 3.5 years and > 3.5 years revealed significant differences in the scores of imitation, fine motor, gross motor, hand-eye coordination, cognitive performance, and verbal cognition development areas (P: Pass) (P < 0.01). However, no significant differences in the scores of perception, emotion, interpersonal relationships, play, sensation, and language (S: Severe) were observed on pathological scales (P > 0.05). The difference in age in the gross motor developmental delay of the scale was the smallest, whereas that of the verbal cognition was the largest, followed by the imitation functional area. An inverse correlation was found between the scores of imitation, perception, hand-eye coordination, and cognitive performance (P) developmental function areas in children with ASD and those of emotion, interpersonal relationships, game and item preferences, sensory patterns, and emotion (S) in the pathological scale (P < 0.05). Fine and gross motor skills were negatively correlated with interpersonal relationships, game and item preferences, and emotions in the pathological scale (P < 0.05). Age was significantly positively correlated with the scores of imitation, perception, fine motor, gross motor, hand-eye coordination, cognitive performance, and verbal cognition developmental function areas (P) (P < 0.05). Further, age was not associated with emotions, interpersonal relationships, game and item preferences, sensory patterns, and emotions (P > 0.05). No gender difference was observed between the scores of each developmental area (P) of the scale and the scores of each functional area (S) of the pathological scale. CONCLUSION: The C-PEP-3 scale reflects the differences in clinical characteristics of children with autism, and the pathological scale is associated with the severity of developmental function areas. The C-PEP-3 scale can be utilized to assess the effect of age changes on children with autism. Attention in rehabilitation should be focused on addressing the pathological behaviors of children with autism.

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7. Kanna RM, Prakash G, Shetty AP, Shanmuganathan R. Do all symptomatic adjacent segment diseases (ASD) require surgery? a prognostic classification and predictors of surgical treatment of lumbar ASD. Eur Spine J;2025 (Mar 18)

INTRODUCTION: Symptomatic Adjacent segment disease presents in myriad ways with varying clinic-radiological presentation but the optimal management and the factors that predict need for revision surgery are unclear. METHODOLOGY: Consecutive patients (n = 132) who experienced significant back or leg pain after an asymptomatic period (minimum 1 year) following a lumbar fusion were evaluated with dynamic radiographs and MRI. ASD was classified anatomically as proximal (86.3%), distal (12.1%, or combined (1.5%) and, sub-classified pathologically into six sub-types: Type 1: Disc prolapse (17.4%), Type 2: Disc degeneration with intra-discal instability (15.1%), Type 3: Anterolisthesis and facet instability (6.8%), Type 4: Retrolisthesis (25%), Type 5: Stenosis (21.9%) and Type 6: Combined types (13.6%). RESULTS: The mean duration between the index surgery and ASD was 5.9 ± 4.1 years. Surgery was required in 40.9% (54/132). Six factors were highly predictive of surgical treatment for ASD, viz., Diabetes mellitus (OR-4.3, p = 0.007), ASD- disc prolapse (OR 6.3, p = 0.018), ASD intra-discal instability (OR-16.8206, p = 0.003), ASD – anterolisthesis (OR - 8.2998, p = 0.043), Facet angle > 75° (OR 37.6, p = 0.02) and radiculopathy (OR 48.0, p = 0.002). Retrolisthesis was the most benign type as 84.8% patients were managed conservatively (p = 0.016). Among proximal ASD, retrolisthesis was the most common subtype (28.9%) while disc prolapse was the most common subtype in distal ASD 37.5% (p = 0.032). CONCLUSION: The study classifies the versatile clinic-radiological presentation of ASD, and identifies factors that predicted the development of the different sub-types of ASD. Knowledge about the six clinic-radiological factors that predict the need for surgical treatment in ASD is beneficial.

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8. Kinlin LM, Saunders NR, Carsley S, Keown-Stoneman C, Tu K, Zwaigenbaum L, Birken CS. Weight status of children and adolescents with autism spectrum disorder: A cross-sectional analysis of primary care electronic medical records and linked health administrative datasets in Ontario, Canada. Pediatr Obes;2025 (Mar 18):e70000.

BACKGROUND: Individuals with autism spectrum disorder (ASD) may be at increased risk of both obesity and underweight. OBJECTIVE: To examine the association between ASD and weight status in children and adolescents, adjusting for individual- and neighbourhood-level sociodemographic factors. METHODS: We conducted a cross-sectional study of children and adolescents ≥2 and ≤18 years old using health administrative and demographic data from Ontario, Canada. Using growth measurements from a large primary care database between 2011 and 2016, we categorized weight status using World Health Organization definitions. We defined ASD based on a previously validated algorithm. RESULTS: We included 568 children and adolescents with ASD and 32 967 without ASD. Comparing those with ASD to those without ASD, prevalence of underweight was 3.5% versus 1.9%, overweight 19.0% versus 18.2%, obesity 12.9% versus 7.3%, and severe obesity 5.8% versus 2.2%. In the fully adjusted multinomial logistic regression model, ASD remained associated with underweight (adjusted odds ratio [aOR] 2.02; 95% confidence interval [CI] 1.27-3.20), obesity (aOR 1.87; 95% CI 1.44-2.43) and severe obesity (aOR 2.62; 95% CI 1.81-3.80). CONCLUSION: Children and adolescents with ASD are at increased risk of underweight, obesity, and severe obesity, independent of sociodemographic characteristics. Strategies addressing growth and weight status are warranted in this population.

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9. Kılıçaslan F, Düken ME, Kızıldağ F, Ocak Ş. Perceived Stress and Depressive Symptoms Among Mothers of Children with ASD After the Recent Earthquakes in Türkiye: The Mediating Role of Perceived Social Support. Psychiatry;2025 (Mar 19):1-8.

OBJECTIVE: To evaluate perceived stress, depressive symptoms, and social support among mothers of children with Autism Spectrum Disorder (ASD) compared to mothers of typically developing (TD) children following major earthquakes in Türkiye. Additionally, to examine whether perceived social support mediates the relationship between stress and depressive symptoms in mothers of children with ASD. METHODS: This cross-sectional descriptive study was conducted between April 2023 and September 2023. The participants consist of mothers of children with ASD (n = 77) and mothers of TD children (n = 122). The data were collected using the Personal Information Form, Multidimensional Scale of Perceived Social Support (MSPSS), Perceived Stress Scale (PSS-14), and Beck Depression Inventory (BDI). The data were analyzed using the IBM SPSS program and Process Macro v3.5 package. RESULTS: The results of the study showed that mothers of children with ASD had higher stress and depressive symptoms and lower social support than mothers of TD children. It was revealed that the perceived stress predicted 29.0% of the perceived social support (R(2)). The perceived stress, along with the perceived social support, explained 56.6% of the variation in depressive symptoms in mothers of children with ASD. CONCLUSION: Increasing perceived social support for mothers of children with ASD could be an effective way to reduce psychological distress following a disaster.

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10. Lampinen LA, Zheng S, Olson L, Bal VH, Thurm AE, Esler AN, Kanne SM, Kim SH, Lord C, Parenteau C, Nowell KP, Roberts JE, Takahashi N, Bishop SL. DSM-5 based algorithms for the Autism Diagnostic Interview-Revised for children ages 4-17 years. J Child Psychol Psychiatry;2025 (Mar 18)

BACKGROUND: The Autism Diagnostic Interview, Revised (ADI-R) is a caregiver interview that is widely used as part of the diagnostic assessment for Autism Spectrum Disorder (ASD). Few large-scale studies have reported the sensitivity and specificity of the ADI-R algorithms, which are based on DSM-IV Autistic Disorder criteria. Kim and Lord (Journal of Autism and Developmental Disorders, 2012, 42, 82) developed revised DSM-5-based toddler algorithms, which are only applicable to children under 4 years. The current study developed DSM-5-based algorithms for children ages 4-17 years and examined their performance compared to clinical diagnosis and to the original DSM-IV-based algorithms. METHODS: Participants included 2,905 cases (2,144 ASD, 761 non-ASD) from clinical-research databanks. Children were clinically referred for ASD-related concerns or recruited for ASD-focused research projects, and their caregivers completed the ADI-R as part of a comprehensive diagnostic assessment. Items relevant to DSM-5 ASD criteria were selected for the new algorithms primarily based on their ability to discriminate ASD from non-ASD cases. Algorithms were created for individuals with and without reported use of phrase speech. Confirmatory factor analysis tested the fit of a DSM-5-based two-factor structure. ROC curve analyses examined the diagnostic accuracy of the revised algorithms compared to clinical diagnosis. RESULTS: The two-factor structure of the revised ADI-R algorithms showed adequate fit. Sensitivity of the original ADI-R algorithm ranged from 74% to 96%, and specificity ranged from 38% to 83%. The revised DSM-5-based algorithms performed similarly or better, with sensitivity ranging from 77% to 99% and specificity ranging from 71% to 92%. CONCLUSIONS: In this large sample aggregated from US clinical-research sites, the original ADI-R algorithm showed adequate diagnostic validity, with poorer specificity among individuals without phrase speech. The revised DSM-5-based algorithms introduced here performed comparably to the original algorithms, with improved specificity in individuals without phrase speech. These revised algorithms offer an alternative method for summarizing ASD symptoms in a DSM-5-compatible manner.

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11. Lin Y, Wang C, Chen R, Zhang H, Zhao D. Is There a Core Deficit in Autism Spectrum Disorder? An Analysis of CPEP-3 Assessment Data from 543 Children With Autism. J Autism Dev Disord;2025 (Mar 19)

Identifying a « core deficit » is essential for early detection and intervention in developmental disorders among children. However, the presence of a core deficit within autism spectrum disorder (ASD) continues to be unclear. Therefore, the purpose of this study was to examine the possibility of the core deficit in autism spectrum disorders. This study evaluated 543 children diagnosed with ASD by using Chinese version of the Psychoeducational Profile-Third Edition (CPEP-3). Structural equation modeling (SEM) was used to construct single-factor models (assuming the presence of a core deficit) and a multi-factor model (assuming the absence of core deficits) based on the assessed data, and then to compare the fit of the two types of models. Assessments revealed developmental delays and adaptive challenges among the children with ASD. The single-factor model assuming the « motor » domain as the « core deficit » showed a superior fit (CFI = 0.86, AIC = 356.47, ECVI = 0.66) than other single-factor models. The multi-factor model, which assumes no core deficit, provided a better fit and greater predictive accuracy (CFI = 0.87, AIC = 351.94, ECVI = 0.65) than all single-factor models. ASD is characterized by widespread developmental delays and adaptive challenges. While motor impairment may serve as an effective predictor of these issues, it does not fully account for the diverse and complex symptomatology observed in children with ASD. The symptoms in these children likely arise from multiple factors, which are not adequately explained by a single core deficit model.

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12. Marlow NM, Kramer JM, Kirby AV, Jacobs MM. Protocol for socioecological study of autism, suicide risk, and mental health care: Integrating machine learning and community consultation for suicide prevention. PLoS One;2025;20(3):e0319396.

INTRODUCTION: Autistic people experience higher risk of suicidal ideation (SI) and suicide attempts (SA) compared to non-autistic people, yet there is limited understanding of complex, multilevel factors that drive this disparity. Further, determinants of mental health service receipt among this population are unknown. This study will identify socioecological factors associated with increased risk of SI and SA for autistic people and evaluate determinants of mental health care receipt. METHODS: This study will link information for individuals aged 12-64 years in healthcare claims data (IBM® MarketScan® Research Database and CMS Medicaid) to publicly available databases containing community and policy factors, thereby creating a unique, multilevel dataset that includes health, demographic, community, and policy information. Machine learning data reduction methods will be applied to reduce the dimensionality prior to nested, multilevel empirical estimation. These techniques will allow for robust identification of clusters of socioecological factors associated with 1) risk of SI and SA and 2) receipt of mental health services (type, dose, delivery modality). Throughout, the research team will partner with an established group of autistic partners to promote community relevance, as well as receive input and guidance from a council of policy and practice advisors. DISCUSSION: We hypothesize that nested individual (co-occurring conditions, age, sex), community (healthcare availability, social vulnerabilities), and policy factors (state mental health legislation, state Medicaid expansion) will be associated with heightened risk of SI and SA, and that receipt, dose, and delivery of mental health services will be associated with interdependent factors at all three levels. The approach will lead to identification of multilevel clusters of risk and factors that facilitate or impede mental health service delivery. The study team will then engage the community partners, and policy and practice advisors to inform development of recommendations to reduce risk and improve mental health for the autistic population.

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13. Muscatello RA, Cola M, Vandekar S, Corbett BA. Pubertal developmental, body mass index, and cardiovascular autonomic function in children and adolescents with and without autism spectrum disorder: a four-time point accelerated longitudinal study. J Neurodev Disord;2025 (Mar 19);17(1):14.

BACKGROUND: The Autonomic Nervous System (ANS) regulates ‘automatic’ functions such as heart rate, and alterations may have significant impacts on health outcomes. Cardiovascular measures of autonomic function such as heart rate variability are of interest as biological markers in autism spectrum disorder (ASD). The interplay between the ANS and physical health establishes a need to examine cardiovascular autonomic functioning in youth with and without ASD over development. The current study aimed to identify change in autonomic function and balance across the parasympathetic and sympathetic branches over time as a function of diagnosis, age, pubertal development, and physical health status. METHODS: The study included 244 ASD (N = 140) or neurotypical (NT) (N = 104) youth, ages 10 to 13 years at enrollment and followed over four years. Resting state autonomic functioning was measured using respiratory sinus arrhythmia (RSA; parasympathetic) and pre-ejection period (PEP; sympathetic). Autonomic balance and regulation were also examined as outcomes. Linear mixed models tested between- and within-group differences in the primary autonomic outcomes as well as the influence of pubertal development, body weight, and medication use. RESULTS: Baseline models showed diagnostic differences, with lower parasympathetic regulation, in youth with ASD, but no differences were observed for the other three outcomes. Adding body mass index (BMI) percentile and medication use removed the statistically significant diagnostic effect, while both variables were significantly related to lower RSA and overall autonomic regulation. Parasympathetic function (RSA) was stable over age and pubertal stage, while a notable decrease in sympathetic control (increased PEP) was found for age and pubertal stage. BMI percentile at enrollment significantly predicted autonomic function, while change in BMI over time did not. CONCLUSIONS: Minimal research to date has explored physical health (e.g., BMI) and autonomic outcomes in ASD. The current study observed few group differences yet demonstrates important effects of physical health on ANS function in both ASD and neurotypical youth. Findings further emphasize a need to focus on individual traits such as BMI and medication use to elucidate the extent to which autonomic differences are related to health status, irrespective of diagnostic category, across the lifespan.

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14. Ömercioğlu E, Cihan Çam E, Gülçek Ö N, Özmert EN. Characteristics of the home environment in children with developmental delays: insights from a cross-sectional study in Türkiye. Turk J Med Sci;2025;55(1):184-192.

BACKGROUND/AIM: A stimulating home environment in early childhood plays a crucial role in fostering child development. This study aimed to evaluate the home environment of children with developmental delays and who had not received special education support in any developmental domain. MATERIALS AND METHODS: The study comprised of 50 preschool children with developmental delay monitored at Hacettepe University Division of Developmental Pediatrics and 70 typically developing preschool children from Ankara 29 Mayıs State Hospital, General Pediatrics Department. Physicians and experienced child development professionals employed the Ages and Stages Questionnaire (ASQ) to perform developmental assessments on each child. The characteristics of the home environment for all participants were evaluated using the Home Environment Questionnaire (HEQ), and their sociodemographic details were recorded. RESULTS: The home stimulation scores for children with developmental delay were significantly lower compared to those for their typically developing peers (p < 0.001). Physical violence against children was reported by 34% of parents of children with developmental delays (p < 0.001). The presence of developmental delay (p < 0.001, CI 12.629-7.927), the family socioeconomic status (p = 0.002, CI 3.813-1.486), and the number of family members (p = 0.001, Cl 2.595-0.708) were significantly associated with home stimulation scores. CONCLUSION: Initial assessment of children with developmental delays suggest that the stimuli in their home environment are of lower quality relative to those of typically developing peers, and these children are subjected to markedly higher levels of physical violence. These results underscore the need for early childhood caretakers, public health practitioners, and other professionals to design and implement targeted interventions, particularly prioritizing low-income families living in disadvantaged environments.

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15. Parkhill M, Salmaso N, D’Angiulli A, Lee V, Aguilar-Valles A. Emerging autism and Fragile X syndrome treatments. Trends Pharmacol Sci;2025 (Mar 17)

The limitations of current symptom-focused treatments drive the urgent need for effective therapies for autism and Fragile X syndrome (FXS). Currently, no approved pharmacological interventions target the core symptoms of these disorders. Advances in understanding the underlying biology of autism and FXS make this an important time to explore novel options. Indeed, several treatments have recently been tested in clinical trials, with promising results in treating core symptoms of autism and FXS. We focus on emerging interventions, such as gut microbiome therapies, anti-inflammatory approaches, bumetanide, phosphodiesterase 4D inhibitors, and endocannabinoid modulators. We also discuss factors, such as disorder heterogeneity, which may have contributed to poor efficacy in previously failed late-phase trials and impact recent trials, emphasizing the need for personalized treatment approaches.

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16. Politano D, Marazzi F, Scognamillo I, Morelli F, Signorini S, Gana S, Nicolosi S, Rognone E, Borgatti R, Valente EM, Romaniello R. A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature. Brain Dev;2025 (Mar 19);47(3):104351.

BACKGROUND: ZMYM2 heterozygous pathogenic variants cause an ultra-rare disease characterized by a broad clinical phenotype. This condition has been named neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC, MIM#619522). Associated anomalies include congenital abnormalities of the kidney and urinary tract (CAKUT), non-specific facial, cardiac, and skeletal abnormalities, along with a variety of neurodevelopmental disorders. Other abnormalities reported in some patients include infantile hypotonia, poor growth, microcephaly, hypospadias, and motor stereotypies. Recently, one patient with cerebral palsy embedded in a complex phenotype was reported to carry a pathogenic ZMYM2 variant. CASE PRESENTATION: This study presents the case of a 13-year-old girl carrying a de novo ZMYM2 heterozygous pathogenic variant. The patient displayed a Rett-like phenotype, associated with non-specific features such as precocious puberty, short stature, facial dysmorphisms, and spastic diplegia. CONCLUSIONS: This case expands the known clinical phenotype associated with ZMYM2 pathogenic variants, suggesting for the first time a possible link to Rett-like syndromes.

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17. Qu H, Wang J, Shirley DJ, Gemmell HM, Christensen D, Orlando AM, Romero RA, Zielinski BA, Wang Z. Atypical Postural Control Variability and Coordination Persist Into Middle and Older Adulthood in Autism Spectrum Disorder. Autism Res;2025 (Mar 18)

Postural control deviations remain largely unexplored in middle aged and older autistic adults. With the increased prevalence of neurodegenerative conditions and heightened fall risk, precise quantification of postural variability and coordination may provide valuable insights into aging associated neuromotor deviations in autistic adults. Forty-seven autistic and 48 non-autistic individuals completed static stance, anterior-posterior (AP), and mediolateral (ML) postural sway on a force platform. Center of pressure (COP) metrics were derived and interpreted using ANCOVAs for between-group comparisons and multilinear regressions for group  ×  age interaction. Correlations between clinical measures and COP variables that differentiated groups were explored. Compared to non-autistic individuals, autistic adults exhibited greater COP standard deviation (COP(SD)) and COP trajectory length during static stance and demonstrated significant COP(SD-AP) reductions in older age. Autistic adults also exhibited decreased COP range of motion (ROM) but increased ROM variability in the target direction during dynamic stance. Autistic adults’ postural sway was jerkier during dynamic stance, and increased ROM variability during dynamic AP sway was moderately associated with lower verbal IQ in autistic adults. Our findings highlight persistent postural control deviations in middle aged and older autistic adults. Static and dynamic stance are differentially associated with unique profiles of postural control in ASD. Specifically, autistic adults demonstrated pronounced increases in postural sway variability during static stance, while reducing coordination during dynamic conditions. The extent to which postural control deviations found in autistic adults are predictive to the onset of neurodegenerative conditions and the severity of falls warrants future longitudinal research.

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18. S CGD, Alshawsh M, Lee C, Garrick A, Brignell A, Ure A, B PJ. The Meaning of Autism Friendly in Hospital Settings: A Scoping Review of the Autism Community’s Perspectives. J Autism Dev Disord;2025 (Mar 19)

Hospitals are motivated to create more autism friendly environments to optimise access and experience for the community. However, there is a lack of clarity in what the term autism friendly in hospital settings means. We conducted a scoping review of four online databases and eleven national autism organisations to determine existing definitions for autism friendly within hospital settings. To operationalise the meaning of autism friendly hospital care, we then reviewed barriers and facilitators to hospital care from the perspective of autistic patients. Within the seven studies that considered the meaning of autism friendly, we found that the term autism friendly within a hospital context is undefined. To operationalise the meaning of autism friendly within hospitals, we identified barriers and facilitators in 16 studies that examined the hospital experience of autistic patients. We identified 19 facilitators and 23 barriers across three categories: people, place, and time. Flexibility underpinned the three categories, with flexible people, flexible place, and flexible timing reported as being integral to improving the hospital experience of patients with autism. Our findings provide clear guidance for creating autism friendly hospital care.

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19. Spann MN, Aydin E, Cheslack-Postava K, Sourander A, Heinonen E, McKeague IW, Brown AS. Association between maternal c-reactive protein levels in pregnancy and growth trajectories of head circumference during the first year of postnatal life – A secondary data analysis of a case-control study on autism. Pediatr Neonatol;2024 (Sep 25)

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20. Speranza BE, Do M, Hill AT, Donaldson PH, Enticott PG, Kirkovski M. Facial emotion processing hemispheric bias is weakly associated with handedness, autistic traits and biological sex, but not age. BMC Psychol;2025 (Mar 18);13(1):271.

BACKGROUND: Right-hemisphere brain regions are strongly implicated in facial emotion processing (FEP), a phenomenon termed right-hemispheric bias. Variability in FEP hemispheric bias is thought to underpin differences in facial emotion recognition ability and has been associated with age, handedness, biological sex, and autistic traits. However, findings from research to date investigating factors associated with FEP hemispheric bias have been inconsistent. OBJECTIVE: To examine if FEP hemispheric bias can be predicted by individual factors such as age, biological sex, handedness, and autistic traits. METHODS: 427 adults recruited from the general population aged 18-67 years completed the Autism-spectrum Quotient. We also assessed covariates previously linked with FEP hemispheric bias including age, handedness, and biological sex. FEP hemispheric bias was indexed using laterality quotients calculated from a Chimeric Faces Task, where participants indicated which of two identical (but mirrored) half-emotional half-neutral (no emotion) chimeric faces were more emotive. RESULTS: Linear regression models revealed that (1) handedness predicted FEP hemispheric choice bias, (2) the attention switching Autism-spectrum Quotient subscale predicted FEP hemispheric reaction time bias, and (3) the imagination Autism-spectrum Quotient subscale predicted FEP hemispheric reaction time bias for males, but not females. CONCLUSIONS: These findings indicate that the relationship between autistic traits and FEP hemispheric bias is nuanced. Additionally, handedness influences hemispheric bias effects during FEP. Future research should endeavour to investigate if FEP hemispheric bias is dependent on the emotion being observed and consider using more direct measures of hemispheric bias.

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21. Stewart J, Cho GHY. Autism-like features and FOXP1 syndrome: A scoping review. Brain Dev;2025 (Mar 17);47(3):104346.

FOXP1 syndrome is a rare neurodevelopmental disorder associated with a range of cognitive, behavioural, and physical consequences, including autism spectrum disorder and associated symptomatology. This scoping review aims to explore the prevalence and characteristics of autism and autism-like features in individuals with FOXP1 syndrome. A comprehensive literature search identified 15 studies encompassing 103 participants. Of these, 13 studies (n = 76 participants) detailed autism spectrum disorder diagnostic information, and 13 studies (n = 37 participants) detailed information at the symptom level. Autism spectrum disorder was diagnosed in 39 % (n = 30) of cases, with repetitive and restrictive behaviours being the most commonly reported feature, observed in 89 % (n = 33) of patients. However, significant heterogeneity in study methodologies and diagnostic criteria prevented direct comparisons and may have led to an underestimation of certain symptoms. Additionally, inconsistencies in symptom reporting across studies further limited the accuracy of conclusions. Overall, findings highlight the need for more standardized and detailed assessments of autism-like features in FOXP1 syndrome to improve differential diagnosis and inform targeted intervention strategies. Future research should address these gaps to enhance understanding and clinical management of individuals with FOXP1 syndrome.

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22. Teruya M, Kurihara K, Ishibashi T, Ota K, Shinzato H, Takaesu Y, Kondo T. The 12-item self-report Questionnaire for Difficulty in Social Communication as a simultaneous prescreening of autism spectrum and social anxiety. PCN Rep;2025 (Mar);4(1):e70084.

AIM: Young patients with social communication difficulties are often diagnosed with autism spectrum disorder (ASD), social communication disorder (SCD), or social anxiety disorder (SAD). This study aimed to develop a questionnaire, especially focusing on the prescreening of SAD complicated by ASD/SCD. METHODS: The 12-item self-report Questionnaire for Difficulty in Social Communication (DISC-12) was developed and analyzed using exploratory factor analysis in 94 patients with ASD/SCD (35 with SAD, 59 without). An additional 17 patients with only SAD were included. Convergent validity was assessed via correlations with the Autism Spectrum Quotient (AQ) and Liebowitz Social Anxiety Scale (LSAS). DISC-12 scores and demographics were compared across ASD/SCD, ASD/SCD + SAD, and SAD groups. Receiver operating characteristic (ROC) analysis of DISC-12 subscales distinguished autistic traits from social anxiety. RESULTS: Factor analysis revealed a three-factor model for the DISC-12, comprising nonassertiveness, poor empathy, and interpersonal hypersensitivity. DISC-12 showed significant correlations with the AQ (r = 0.412, p < 0.001) and LSAS (r = 0.429, p < 0.001). Patients with ASD/SCD had higher Poor Empathy scores, while SAD patients had higher Interpersonal Hypersensitivity scores than the other groups. ROC analysis indicated that Poor Empathy and Interpersonal Hypersensitivity subscale scores effectively differentiated ASD/SCD from patients with SAD and vice versa. CONCLUSION: DISC-12 is a rapid and effective prescreening tool for identifying both ASD and social anxiety, particularly in young patients with self-reported difficulties in social communication.

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23. Van Der Steen S, Kamphorst E, Griffioen RE. A randomized controlled trial of the effects of dog-assisted versus robot dog-assisted therapy for children with autism or Down syndrome. PLoS One;2025;20(3):e0319939.

Research with controlled or crossover designs in animal-assisted therapy have largely used control groups receiving no treatment or treatment as usual, which can potentially inflate the effects of these interventions. It is therefore not always clear whether this type of therapy has a positive effect on, for example, the social skills of children with special support needs. To address this, the current study compared children (7-16 years, n =  65) with autism or Down syndrome who received five sessions of dog-assisted therapy (n =  24; 9 female) with an active control group who received five similar sessions of robot dog-assisted therapy (n =  21; 8 female) and a no-treatment control group (n =  20; 8 female). The robot dog was capable of performing autonomous behavior and responding to the child’s actions and verbalizations. Using parental questionnaires, we assessed children’s social and emotional skills before and after the therapy sessions or waiting period and included a follow-up measurement after 4-6 weeks. On a group level, multilevel analyses showed that children who received dog-assisted therapy improved significantly more in terms of emotional attunement and emotion regulation than children in the two other conditions. No significant differences were found for social confidence, conversational attunement, social cognition, and social motivation. Change from post-test to follow-up was also less apparent. Yet, on a more individual level, when looking at the Reliable Change Index (RCI), most of the highest RCIs (within the 90th percentile) were found in the dog-assisted therapy group. In contrast, most of the lowest RCIs (within the 10th percentile) were found in the robot-assisted group. We discuss the pros and cons of a more individualized approach in this field of study and propose a possible alternative by focusing on interaction dynamics.

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24. Vidal Ceballos A, Geissmann A, Favaro DC, Deshpande P, Elbaum-Garfinkle S. RNA guanine content and G-quadruplex structure tune the phase behavior and material properties of biomolecular condensates. Sci Rep;2025 (Mar 18);15(1):9295.

RNA binding proteins (RBPs) are enriched in phase separated biomolecular assemblies across cell types. These RBPs often harbor arginine-glycine rich RGG motifs, which can drive phase separation, and can preferentially interact with RNA G-quadruplex (G4) structures, particularly in the neuron. Increasing evidence underscores the important role that RNA sequence and structure play in contributing to the form and function of protein condensates, however, less is known about the role of G4 RNAs and their interaction with RGG domains specifically. In this study we focused on the model protein, Fragile X mental retardation protein (FMRP), to investigate how G4-containing RNA sequences impact the phase behavior and material properties of condensates. FMRP is implicated in the development of Fragile X Syndrome, and is enriched in neuronal granules where it is thought to aid in mRNA trafficking and translational control. Here, we examined RNA sequences with increasing G content and G4 propensity in complex with the RGG-containing low complexity region (LCR) of FMRP. We found, that while increasing G content triggers aggregation of poly-arginine, all RNA sequences supported phase separation into liquid droplets with FMRP-LCR. Combining microrheology, and fluorescence recovery after photobleaching, we measured a moderate increase in viscosity and decrease in dynamics for increasing G-content, and detected no measurable increase in elasticity as a function of G4 structure. Additionally, we found that while methylation of FMRP decreased RNA binding affinity, this modification did not impact condensate material properties suggesting that RNA sequence/structure can play a greater role than binding affinity in determining the emergent properties of condensates. Together, this work lends much needed insight into the ways in which G-rich RNA sequences tune the assembly, dynamics and material properties of protein/RNA condensates and/or granules.

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25. Wang G, Ategbole M, Luo X, Wang K, Xu C. Gender differences in the associations between developmental disabilities and anxiety and depression symptoms among U.S. children: Insights from the 2021 National Health Interview Survey. J Affect Disord;2025 (Mar 19)

BACKGROUND: Limited research has explored the associations between developmental disabilities and symptoms of anxiety and depression among U.S. children during the COVID-19 pandemic. OBJECTIVE: This study investigates the associations between developmental disabilities and symptoms of anxiety and depression among U.S. children and examines whether these associations differ by gender. METHODS: The analysis included 6092 children aged 5-17 from the 2021 National Health Interview Survey (NHIS). Key risk factors for anxiety and depression symptoms included attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), intellectual disability (ID), learning disability (LD), and developmental delay (DD). Weighted multivariable logistic regression (MLR) was conducted to evaluate associations with anxiety and depression symptoms. RESULTS: The overall prevalence of anxiety was 14.8 % (12.8 % for males and 17.0 % for females), while depression prevalence was 5.1 % (4.2 % for males; and 6.0 % for females). Children with developmental disabilities had significantly higher prevalence rates of anxiety and depression compared to their peers without such conditions (p < 0.05). MLR analysis revealed that being female and having a history of ADHD, ASD, LD, and DD were associated with increased odds of both anxiety and depression (p < 0.05). ID was associated with increased odds of anxiety but not depression. COVID-19 was not significantly associated with either anxiety or depression. Furthermore, the associations of ASD, LD, ID, and DD with anxiety and depression varied by gender. CONCLUSIONS: Developmental disabilities were significantly associated with symptoms of anxiety and depression among U.S. children in 2021, with notable gender differences. These findings highlight the importance of incorporating gender-sensitive approaches in designing effective prevention and intervention strategies.

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26. Wang J, Li J, Wang F, You Y. Exercise Intervention Influences on Sleep and Anxiety in Children with Autism Spectrum Disorder: A meta-analyses of randomised controlled trials. Neuropediatrics;2025 (Mar 19)

OBJECTIVE: Related issues, such as sleep disturbance, are also frequently reported by children with autism spectrum disorder (ASD). This study systematically reviewed the influences of exercise on sleep and anxiety in children with ASD. METHODS: Search for eligible studies through four databases, and then proceed with screening. The inclusion criteria are as follows: 1) Children with ASD; 2) Age 6-14 years; 3) Randomised Controlled Trial (RCT); 4) The experimental (EXP) group received exercise training , while the control (CON) group did not exercise; 5) Conducted pre- and post-test, which include sleep and anxiety. Use the Cochrane bias risk assessment tool to evaluate the quality of the selected study. Select Standardized Mean Difference (SMD) as the appropriate effect scale index, and use Revman 5.4 software to analyze the mean difference of the selected article data. RESULTS: A total of seven studies fulfilled the inclusion criteria and were selected for the meta-analysis. The included studies involved 387 males and 79 females. The results demonstrated that the EXP group benefited from the improved sleep [SMD, -1.05 (-1.25, -0.85), p < 0.05, I2 = 27%] and anxiety [SMD, -1.14 (-1.56, -0.72), p < 0.05, I2 = 95%] than the CON group. CONCLUSION: According to the findings, exercise intervention could offer non-pharmacological interventions for improving sleep and anxiety in children diagnosed with ASD. Sports training could also be considered to promote the rehabilitation of children patients with ASD, which might provide valuable insights.

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27. Wang L, Xie Q, Hua M, Lu H. How Do Social Support and Resilience Interact in Parents of Children with ASD? A Cross-Lagged Mediation and Moderation Analysis from the COR Perspective. J Autism Dev Disord;2025 (Mar 18)

This study investigates a longitudinal cross-lagged relationship between social support and resilience among parents of autistic children within the framework of conservation of resources theory. It also examines the mediating role of active coping and conducts a group comparison between preschool-aged and school-aged children within this relationship. In total, 436 parents of autistic children aged three to fifteen years from China participated in this study. They completed the Social Support Questionnaire, the Connor-Davidson Resilience Scale, and the Coping Strategies Inventory at baseline (Time 1 [T1]) and 6 months later (Time 2 [T2]). A longitudinal cross-lagged structural equation modeling approach was applied. The findings indicated a longitudinal bidirectional relationship between social support and resilience over time, with active coping mediating this interaction. While the overall model did not significantly differ between parents of preschool- and school-aged children, the relationship between resilience at T1 and social support at T2 was significant for the school-aged group. The study highlights that social support and resilience mutually reinforce each other and that active coping serves as a key mechanism underlying this relationship. Considering the variation across age groups, this study offers implications for age-specific family services aimed at enhancing resilience and social support for parents of autistic children.

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28. Yazıcı MS, Karsantık İ. How Educators’ Self-Construal Shapes Teacher Training: Navigating from Autism Awareness to Stigma. J Autism Dev Disord;2025 (Mar 19)

This study examined how self-construal, a key aspect of cultural structure, influences teacher training to improve autism awareness and reduce stigma. It explored autism awareness, self-construal, and stigma levels among potential educators, as well as the relationships between these factors. The study also investigated the mediating role of self-construal in the link between autism awareness and stigma. The study included 1031 potential educators-individuals with no teaching experience with students with ASD but likely to work with them in the future. Participants were selected through purposeful sampling. Data were collected using a demographic form, Autism Awareness Scale, Self-Construal Scale, and Stigma Scale. The study found that both autonomous and relational self-construals significantly impacted autism awareness and stigma. These cultural factors influenced how potential educators perceive and respond to ASD. The analysis highlighted the mediating role of self-construal between autism awareness and stigma. The study concluded that self-construal, as a cultural element, plays a significant role in shaping potential educators’ approaches to autism awareness and stigma reduction. It is recommended that teacher training programs incorporate cultural factors like self-construal to complement efforts in enhancing autism awareness and reducing stigma, ensuring that potential educators’ cultural structures do not outweigh their professional qualifications in interactions with students with ASD.

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