1. Anding A, Ren B, Padmashri R, Burkovetskaya M, Dunaevsky A. Activity of human-specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome. bioRxiv;2025 (Feb 26)

Astrocytes, a type of glial cells, have multiple roles in regulating neuronal development and homeostasis. In addition to the typical mammalian astrocytes, in the primate cortex interlaminar astrocytes are located in the superficial layer and project long processes traversing multiple layers of the cerebral cortex. Previously, we described a human stem cell based chimeric mouse model where interlaminar astrocytes develop. Here, we utilized this model to study the calcium signaling properties of interlaminar astrocytes. To determine how interlaminar astrocytes could contribute to neurodevelopmental disorders, we generated a chimeric mouse model for Fragile X syndrome. We report that FXS interlaminar astrocytes exhibit hyperexcitable calcium signaling and cause an increase in dendritic spine dynamics.

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2. Andrade C, Varadharajan N, Bascarane S, Kale A, Gnanadhas J, Menon V. Gestational Exposure to Valproate and Autism Spectrum Disorder or Attention-Deficit/Hyperactivity Disorder in Offspring: Systematic Review and Meta-Analysis. Acta Psychiatr Scand;2025 (Mar 9)

INTRODUCTION: Gestational exposure to valproate has been associated with a wide range of adverse pregnancy outcomes, including major congenital malformations in offspring. However, to date, no meta-analysis has comprehensively examined the risk of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in children gestationally exposed to valproate. METHODS: We searched MEDLINE, Embase, and Scopus from inception until 15 May 2024 for relevant English-language articles. Primary outcomes of interest were the risk of ASD and ADHD, two independent primary outcomes, in children exposed to valproate anytime during pregnancy relative to unexposed children. Secondary outcomes were trimester-wise analyses of risk. We used a random effects model to pool the overall and trimester-wise hazard ratios (HRs) and obtained 95% confidence intervals (CIs), separately for the risks of ASD and ADHD. Study quality was assessed using the Joanna Briggs Institute (JBI) critical appraisal checklist. RESULTS: Eight cohort studies (pooled N = 6,033,300) met our search criteria. Anytime gestational exposure to valproate was associated with a large increase in the risk of ASD (adjusted HR [aHR], 3.10; 95% confidence interval [CI], 2.24-4.28; N = 1,841,198) and a modest increase in the risk of ADHD (aHR, 1.62; 95% CI, 1.30-2.01; N = 24,295). The findings in sensitivity analyses for both outcomes were generally consistent with those of the main analyses. Notably, anytime gestational exposure to high-dose valproate (> 1.0 to 1.1 g/day) was associated with a substantially elevated risk of ASD (aHR, 6.32; 95% CI, 3.12-12.80, N = 1,719,825). Likewise, in monotherapy (aHR, 4.21; 95% CI, 2.97-5.95; N = 1,745,253) and discordant sibling pair (aHR, 6.42; 95% CI, 2.02-20.42; N = 1133) analyses, the risk of ASD was substantially elevated. CONCLUSION: Gestational exposure to valproate was associated with an increased risk of ASD and ADHD; the risks for ASD were greater at doses ≥ 1000 mg/day. These findings add to the literature that strongly discourages the use of valproate by women of childbearing age, especially during pregnancy.

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3. Azubuike AO, Azubuike PC, Afape AO, Enyam MO, Akinreni T, Imo UF, Nwadiche M, Ogbonna CK, Timothy PN, Uchegbu ER, Adai GS. Caregiving for autistic children in Nigeria: experiences and challenges. Discov Ment Health;2025 (Mar 10);5(1):32.

BACKGROUND: Raising autistic children poses a daunting task for their caregivers. Providing care may take a toll on caregivers’ physical, psychological, social, and financial wellbeing. This study explored the experience of the responsibility of care among caregivers of autistic children in Nigeria and informed targeted psychosocial support interventions. METHODS: This phenomenology qualitative study was conducted among 103 caregivers in Cross River, Nigeria. The PREPARE tool was used for the data collection. Data were analyzed using the inductive and deductive approaches qualitatively, using NVivo software. RESULTS: Stigma and misunderstanding of autism, emotional impact and acceptance, transportation and accessibility, lack of support networks, and balancing responsibilities and care responsibilities with personal commitments were the major challenges reported by our participants. These factors contributed to emotional strain, underscoring the complexities associated with caregiving experiences. CONCLUSION: Given the significant responsibilities of caregivers, targeted intervention must be taken to properly enlighten Nigerian societies on autistic people, and the need for acceptance. Key stakeholders must provide suitable healthcare facilities and resources for autistic people. Also, social support groups would help establish a sense of belonging and support.

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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. Bozduman Çelebi S, Akdağ B, Cimbar H, Dağ C, Topal F, Noyan B, Önal H. Developmental outcomes of children with biotinidase deficiency and the psychological state of their parents. Eur J Pediatr;2025 (Mar 10);184(3):236.

This study aimed to explore the developmental outcomes of children with biotinidase deficiency (BD) and the psychological well-being of their parents. The cohort comprised 61 children diagnosed with BD who were followed at the Department of Pediatric Metabolism of Başakşehir Çam and Sakura City Hospital in Istanbul, along with their parents. The control group comprised 49 children who were admitted to the pediatric outpatient clinic during the same period and did not have any chronic physical diseases or previous psychiatric admissions, and their parents. The current findings indicated that children with BD did not show significant developmental delays compared to the control group, with no notable differences in intelligence scores between the groups. Interestingly, parents of children with BD reported lower levels of state anxiety than those of the control group, although no significant differences were observed for other mental health metrics. CONCLUSION: These findings imply that early diagnosis and intervention through newborn screening could help alleviate developmental and psychological challenges for children and their parents. WHAT IS KNOWN: • Children who receive biotin supplementation before the onset of symptoms generally develop, while those who are untreated may exhibit developmental delays. • Having a child with a metabolic disease can adversely affect a parent’s psychological well-being. WHAT IS NEW: • Children diagnosed with BD through newborn screening did not show significant developmental delays compared to the control group, with no notable differences in intelligence scores between the groups. • Parents of children with BD reported lower levels of state anxiety than those of the control group, although no significant differences were observed for other mental health metrics.

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6. Calub CA, Hertz-Picciotto I, Bennett D, Schweitzer JB. Examining the association of neighborhood conditions on attention-deficit/hyperactivity disorder symptoms in autistic youth using the child opportunity index 2.0. JCPP Adv;2025 (Mar);5(1):e12267.

BACKGROUND: While neighborhood conditions have previously been shown to have substantial effects on later occupational, educational and health outcomes, this is the first study to examine the relation between neighborhood factors and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism and developmental delays. METHODS: Children from the CHARGE (Childhood Autism Risks from Genetics and the Environment) Study were evaluated at ages 2-5 years and then later in the ReCHARGE (follow-up) Study at ages 8-20 years (mid-childhood/adolescence). Using linear regression, we assessed associations between the Child Opportunity Index 2.0 (COI) at birth, a multidimensional neighborhood measure of childhood opportunity, and ADHD symptoms on the Aberrant Behavior Checklist at mid-childhood/adolescence. RESULTS: Participants included a total of 524 youth (401 males; 123 females), composed of 246 autistic children (AUT), 85 children with Developmental Delays (DD) without autism, and 193 Typically Developing (TD) children. Mean age was 3.8 years (SD = 0.79) when evaluated at CHARGE and 13.5 years (SD = 3.69) when evaluated at ReCHARGE. Regression analyses revealed COI at birth significantly predicted ADHD symptoms during mid-childhood/adolescence and early childhood diagnosis modified the COI effect. More specifically, COI significantly predicted ADHD symptoms in the AUT group, but not the TD or DD groups. Additional regression analyses indicated that this interaction was only present in the Social and Economic COI domain. Secondary analyses revealed autistic youth with High and Low Social and Economic COI domain scores had similar levels of ADHD symptoms during early childhood, but by mid-childhood/adolescence, those with low Social and Economic COI domain scores had higher ADHD symptoms. CONCLUSIONS: Among autistic, but not TD or DD youth, poorer neighborhood conditions at birth predict greater ADHD symptoms in later development. These findings have important clinical implications and highlight the need for increased and improved resources in poorer neighborhoods to reduce existing disparities in ADHD, a common neurodevelopmental impairment.

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7. Chau T, Tiego J, Brown LE, Mellahn OJ, Johnson BP, Bellgrove MA. The distribution of parent-reported autistic and subclinical ADHD traits in children with and without an autism diagnosis. JCPP Adv;2025 (Mar);5(1):e12259.

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) traits often co-occur in autistic children. The presence of subclinical ADHD traits can significantly impact upon different aspects of daily living. As such, understanding the distribution of these traits in autistic children may have important implications for the validity of diagnostic tools and subsequent intervention choices. This study builds on previous latent models of parent-reported autistic and ADHD traits to propose a preliminary model of their distribution in two independent samples of autistic and neurotypical children. METHODS: Factor mixture modelling was applied to caregiver responses to the Social Responsiveness Scale – 2(nd) edition and the Strengths and Weaknesses of ADHD Symptoms and Normal Behaviour Scale (SWAN) of participants aged 4-18 years who participated in one of two studies in Australia or in the United States. RESULTS: A 2-factor, 3-class factor mixture model demonstrated the best fit to the data across both independent samples. The factors represented the latent constructs of ‘autism’ and ‘ADHD’. The latent classes represented subtypes of children with different levels of autistic traits, with higher levels of ADHD traits as autistic trait endorsement increased. Some sample-specific differences were observed for each model’s item thresholds and factor covariance matrices. CONCLUSIONS: Our findings suggest that the endorsement of subclinical ADHD traits tends to increase alongside autistic trait endorsement across neurotypical and autistic presentations. There may be clinical utility in routinely screening for ADHD traits in children with clinically elevated levels of autistic traits.

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8. Cipriani C, Camaioni A, Tartaglione AM, Giudice M, Conti A, Petrone V, Miele MT, Matteucci C, Garaci E, Calamandrei G, Toschi N, Sinibaldi-Vallebona P, Ricceri L, Balestrieri E. Activation of endogenous retroviruses characterizes the maternal-fetal interface in the BTBR mouse model of autism spectrum disorder. Sci Rep;2025 (Mar 10);15(1):8271.

Endogenous retroviruses (ERVs) are genetic elements derived from a process of germline infection by exogenous retroviruses. Some ERVs have been co-opted for physiological functions, and their activation has been associated with complex diseases, including Autism Spectrum Disorder (ASD). We have already demonstrated an abnormal expression of ERVs in the BTBR T + tf/J (BTBR) mouse model of ASD during intrauterine life till adulthood. Thus, starting from the assumptions that ERVs may contribute to the derailment of neurodevelopment and that ASD has fetal origins as a consequence of adverse intrauterine conditions, the present study aims to characterize the transcriptional activity of selected ERVs (MusD, IAP, Syn-A, Syn-B, ARC and GLN), LINE-1, inflammatory mediators (IL-6, IL-10, IL-11 CXCL-1) at the maternal-fetal interface and in dissected embryos from BTBR mice. Our results highlight the deregulation of ERVs and inflammatory mediators at the maternal-fetal interface, and in cephalic and non-cephalic embryonic tissues from BTBR compared to C57BL/6 J. Several correlations among ERV expression levels emerged in different tissues from C57BL/6 J mice while, in BTBR mice, no correlations were found, suggesting that in this model, the acquisition of autistic-like traits might be linked to the dysregulation of ERV activity occurring during intra-uterine life.

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9. Creese M, Hampton S, Brede J, Babb C, Elliott M, Serpell L, Jones CRG, Fox JRE, Loewenberger A, Mandy W. « From That Moment, Everything has Changed »: The Experience of Women With Anorexia Nervosa Receiving a Diagnosis of Autism. Eur Eat Disord Rev;2025 (Mar 9)

OBJECTIVE: Autism and eating disorders (ED) frequently co-occur, particularly in women. Autistic individuals are often undiagnosed when they present to mental health services and many receive their autism diagnosis during or after ED treatment. This study sought to understand the experiences of autistic women with co-occurring anorexia nervosa (AN) receiving an autism diagnosis. METHOD: Secondary data analysis was conducted on 17 semi-structured interviews with autistic women with AN using reflexive thematic analysis. Participants had a diagnosis of autism, had current or past experience of AN, were female-identifying and aged 18 or above. RESULTS: Participants experienced missed opportunities for autism diagnosis along with misdiagnoses and misunderstandings from healthcare professionals. Participants tended to receive their diagnosis at the point of crisis and experienced being passed between autism and ED services. Receiving a diagnosis helped participants make sense of their experiences and take control of their lives but also brought feelings of shock and distress. CONCLUSIONS: While autism diagnosis is often a positive experience for autistic women with AN, a range of emotions can be experienced. The findings highlight a need for better and earlier identification of autism among women with EDs, alongside appropriate post-diagnosis support and ED treatment that is adapted to autistic individuals’ needs.

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10. Eissa N, Jayaprakash P, Aljneibi S, Alsaadi A, Alzaabi S, Łazewska D, Karcz T, Kieć-Kononowicz K, Sadek B. Mitigating effects of H3 receptor antagonism on cerebellar autophagic pathways and behavioral phenotypes in BTBR T+ tf/J mouse model of autism spectrum disorder. Eur J Pharmacol;2025 (Mar 8);997:177481.

Accumulation of evidence suggested the involvement of autophagic pathways and their associated AktmTOR (mammalian target of rapamycin) signalling cascade in the pathogenesis of autism spectrum disorder (ASD). Histamine 3 receptors antagonism may be neuroprotective in ASD, as this antagonism modulates autophagy which is reported to be impaired in ASD. Therefore, the effects the novel H3 receptor antagonist E169 (2.5, 5, and 10 mg/kg, i.p.) on short-term memory (STM), long-term memory (LTM), and anxiety level in male Black and Tan BRachyury (BTBR) mice were evaluated using Novel object recognition test (NORT) and open field locomotor (OFT) tests respectively. In NORT, E169 (2.5 mg/kg, i.p.) significantly improved the memory of tested BTBR mice, and the effects of E169 were similar to those of the reference mTOR inhibitor rapamycin, and were reversed following co-administration with the centrally penetrant H3 receptor agonist (R)-α-methylhistamine (RAMH). Furthermore, E169 enhanced the BTBR memory by inhibiting H3 receptors and regulating the extent of disruption in the expression of cerebellar Akt, mTOR, and LC-3 proteins of treated mice. Moreover, E169 (2.5 mg/kg, i.p.) restored the disturbed anxiety levels and hyperactivity observed in OFT. In summary, the findings indicate that H3 receptor antagonists like E169 could play a role in simultaneously regulating disrupted brain neurotransmitters and the dysregulated cerebellar Akt-mTOR signaling pathway associated with autophagy in neurological diseases. Therefore, activation of cerebellar autophagy represented by H3 receptor antagonist E169 may serve as an effective pharmacological therapeutic target for the ASD-like behavioral phenotypes and may add new therapeutic management strategy for the multifactorial disorder ASD.

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11. Gao T, Chen D, Zhou M, Wang Y, Zuo Y, Tu W, Li X, Chen J. Self-training EEG discrimination model with weakly supervised sample construction: An age-based perspective on ASD evaluation. Neural Netw;2025 (Mar 10);187:107337.

Deep learning for Electroencephalography (EEG) has become dominant in the tasks of discrimination and evaluation of brain disorders. However, despite its significant successes, this approach has long been facing challenges due to the limited availability of labeled samples and the individuality of subjects, particularly in complex scenarios such as Autism Spectrum Disorders (ASD). To facilitate the efficient optimization of EEG discrimination models in the face of these limitations, this study has developed a framework called STEM (Self-Training EEG Model). STEM accomplishes this by self-training the model, which involves initializing it with limited labeled samples and optimizing it with self-constructed samples. (1) Model initialization with multi-task learning: A multi-task model (MAC) comprising an AutoEncoder and a classifier offers guidance for subsequent pseudo-labeling. This guidance includes task-related latent EEG representations and prediction probabilities of unlabeled samples. The AutoEncoder, which consists of depth-separable convolutions and BiGRUs, is responsible for learning comprehensive EEG representations through the EEG reconstruction task. Meanwhile, the classifier, trained using limited labeled samples through supervised learning, directs the model’s attention towards capturing task-related features. (2) Model optimization aided by pseudo-labeled samples construction: Next, trustworthy pseudo-labels are assigned to the unlabeled samples, and this approach (PLASC) combines the sample’s distance relationship in the feature space mapped by the encoder with the sample’s predicted probability, using the initial MAC model as a reference. The constructed pseudo-labeled samples then support the self-training of MAC to learn individual information from new subjects, potentially enhancing the adaptation of the optimized model to samples from new subjects. The STEM framework has undergone an extensive evaluation, comparing it to state-of-the-art counterparts, using resting-state EEG data collected from 175 ASD-suspicious children spanning different age groups. The observed results indicate the following: (1) STEM achieves the best performance, with an accuracy of 88.33% and an F1-score of 87.24%, and (2) STEM’s multi-task learning capability outperforms supervised methods when labeled data is limited. More importantly, the use of PLASC improves the model’s performance in ASD discrimination across different age groups, resulting in an increase in accuracy (3%-8%) and F1-scores (4%-10%). These increments are approximately 6% higher than those achieved by the comparison methods.

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12. Gouveia FV, Germann J, Ibrahim GM. Brain network alterations in fragile X syndrome. Neurosci Biobehav Rev;2025 (Mar 10);172:106101.

Fragile X syndrome (FXS), caused by FMR1 gene mutations, leads to widespread brain alterations significantly impacting cognition and behaviour. Recent advances have provided a deeper understanding of the neural substrates of FXS. This review provides a comprehensive overview of the current knowledge of neuronal network alterations in FXS. We highlight imaging studies that demonstrate network-level disruptions within resting-state networks, including the default mode network, frontoparietal network, salience network, and basal ganglia network, linked to cognitive, emotional and motor deficits in FXS. Next, we link dysregulated network activity in FXS to molecular studies showing neurometabolic imbalances, particularly in GABAergic and glutamatergic systems. Additionally, gene-brain-behavior correlations are explored with gene expression maps to illustrate regional FMR1 expression patterns tied to clinical symptoms. A graph analysis and meta-analytic mapping further link these dysfunctional networks to the specific symptoms of FXS. We conclude by highlighting gaps in the literature, including the need for greater global collaboration, inclusion of underrepresented populations, and consideration of transdiagnostic effects in future research to advance neuroimaging and therapeutic approaches for FXS.

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13. Gunderson J, Howie F, Mehta S, Redlin A, Huebner A. Sensitivity and Specificity Between the Screening Tool for Autism in Toddlers and Young Children (STAT) and Autism Diagnostic Observation Schedule (ADOS-2). J Autism Dev Disord;2025 (Mar 9)

The current study evaluated the agreement of the Screening Tool for Autism in Toddlers & Young Children (STAT) in differential diagnosis of autism in an outpatient clinical population, compared to the more time and resource-intensive Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Sensitivity and specificity comparative analyses were completed on 44 patients (aged 24-36 months) who were administered both the STAT and the ADOS. Sensitivity and specificity were also calculated independently on patients that received a STAT (n = 102, 24-36 months) or ADOS-2 (n = 72, 24-36 months) and multidisciplinary clinical evaluation. Using clinical diagnosis as the measure of truth, 33 of the 44 received a clinical diagnosis of ASD. Agreement between the STAT and ADOS-2 was 90.9% (40/44; 95% CI 78.3-97.5%). The sensitivity of the STAT was 90.9% (30/33; 95% CI 75.7-98.1%) and the sensitivity of the ADOS was 100% (33/33, 95% CI 89.4-100%) in our sample. The specificity of the STAT was 90.9% (10/11; 95% CI 58.7-99.8%) and the specificity of the ADOS was 100% (11/11; 95% CI 75.1-100.0%). The STAT showed high sensitivity and moderate specificity in differentiating children with autism from those with other neurodevelopmental disorders in this outpatient clinic population. There was excellent agreement between the STAT and ADOS-2. The STAT may be an acceptable diagnostic tool to refine clinic models and reduce wait times for evaluation in toddlers who present with concerns for autism.

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14. MacDonald-Prégent A, McGuinness L, Nadig A. Value Added by Assessing Nonspoken Vocabulary in Minimally Speaking Autistic Children. Am J Speech Lang Pathol;2025 (Mar 10);34(2):592-604.

PURPOSE: There is a scarcity of language assessment tools properly adapted for use with minimally speaking autistic children. As these children often use nonspoken methods of communication (i.e., augmentative and alternative communication [AAC]), modification of traditional assessment tools is needed to capture the full range of their communicative repertoires. We modified the MacArthur-Bates Communicative Development Inventories (CDI) to explore how vocabulary size and composition are impacted by considering nonspoken, as well as spoken, expressive vocabulary (AAC-modified CDI: Words and Gestures). METHOD: Our initial sample consisted of 16 minimally speaking autistic children, 3-9 years old, whose caregivers completed our modified CDI after taking part in an AAC intervention. Our final sample included 15 participants, after removing an outlier. RESULTS: Accounting for both spoken and nonspoken communication significantly increased participants’ reported expressive vocabulary by an average of 14 words (z = -2.61, p = .009, r = .75). Verbs made up a sizable portion (13.3%) of vocabulary when accounting for all modalities, while nouns made up the majority (51.5%). CONCLUSIONS: We demonstrated the value of including both spoken and nonspoken modalities of communication when assessing the expressive vocabulary of minimally speaking autistic children. Prior work has shown that minimally speaking autistic children’s spoken vocabulary was prominent in verbs (i.e., contained proportionally more verbs than that of vocabulary-matched typically developing children). In our sample, which used a broader definition of minimally speaking, we found that the proportions of verbs and nouns were consistent with what has been reported for typically developing children with similar-sized productive vocabularies.

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15. McCabe C, Cahalan S, Pincus M, Rosenberg-Lee M, Graves WW. Neural correlates of reading aloud on the autism spectrum. Sci Rep;2025 (Mar 10);15(1):8240.

Individuals with autism can show intact decoding (i.e., ability to recognize and pronounce written words accurately). However, reading comprehension (i.e., ability to infer meaning from written text) in autistic individuals is often lower than expected based on age or grade level. Having intact decoding skills despite potentially atypical reading comprehension suggests altered reading pathways in autism, particularly when processing semantics (i.e., word meaning). To test for neural differences in word processing between autistic and non-autistic younger adults, we examined behavioral and neural responses to reading aloud words and pronounceable nonsense words (pseudowords). Additionally, we manipulated word imageability, word frequency, and word and pseudoword spelling-sound consistency as probes for different components (i.e., orthography, phonology and semantics) of the reading system. Behaviorally, the autistic group had a greater reduction in reaction time as word imageability increased. Neurally, pseudoword consistency effects, a probe of spelling-sound mappings without semantics, were only observed in the autistic group, where increased consistency was associated with decreased activity in bilateral intraparietal sulcus. Also compared to the non-autistic group, the autistic group showed greater effects of word consistency, where increasing word consistency was associated with increasing activation in the bilateral posterior superior temporal gyrus and ventral occipitotemporal cortex. Finally, the autistic group showed stronger effects of pseudoword consistency than the non-autistic group, that is increasing pseudoword consistency was associated with decreasing activation in the left ventral occipitotemporal cortex. Together, these results point to differences in how neural resources are used for reading, with more bilateral areas recruited during spelling-sound decoding in autistics to achieve comparable performance to non-autistics.

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16. McCarter K, Deshpande M, Romanski P, Stratopoulou CA, Zaninovic N, Tareen M, Al-Mousawi R, James D, Madireddy A, Rosenwaks Z, Gerhardt J. Dysregulation of the actin cytoskeleton and FMRP causes polar body protrusion defects in human fragile X premutation and aged oocytes. bioRxiv;2025 (Feb 26)

Women carrying the fragile X premutation (55-200 CGG repeat expansion, PM) are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), which is preceded by fragile X-associated diminished ovarian reserve (FXDOR). So far, the cause of FXDOR/FXPOI could not be comprehensively examined due to the scarcity of human ovarian tissue and oocytes. From studies in model systems, it was proposed that molecular abnormalities within the ovaries or a diminished primordial follicle pool cause FXDOR/FXPOI. To elucidate the defects instigating FXDOR/FXPOI, we examined human oocytes obtained from PM carriers undergoing in vitro fertilization (IVF). We found that the number of MII oocytes was reduced suggesting that the maturation of the oocytes is constrained in PM carriers. Furthermore, immature PM oocytes contained abnormal inclusions, irregular ubiquitin levels and DNA breaks. Despite these defects PM oocytes passed the DNA damage checkpoints. However, in anaphase I PM oocytes failed to initiate the protrusion of the first polar body. In addition, these oocytes amassed bundle actin structures, lacked an actin cap and had elevated profilin1 level. Profilin1 limits the formation of branched actin structures which are necessary for actin cap formation and membrane protrusions. Surprisingly, our results suggest that in PM oocytes an increase in FMRP elevates the profilin1 translation, which leads to the cytoskeleton defects and deficiencies in formation of the first polar body. We also analyzed the decline of MII oocytes in aging human ovaries. Similar, we found that the profilin1 expression and formation of the actin cytoskeleton were dysregulated due to appearance of cytoplasmatic FMRP foci in aged human oocytes. Thus, these results reveal that defects during anaphase I hinder the maturation of human oocytes resulting in FXDOR/FXPOI in PM carriers and a reduction in mature oocytes in women with advanced maternal age.

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17. 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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18. Papadopoulos E, Abrimian A, Zarzour H, Hagerman RJ, Schmidt RF. Spontaneous distal middle cerebral artery aneurysm in a young male with full mutation of the fragile X syndrome with a high-functioning phenotype: illustrative case. J Neurosurg Case Lessons;2025 (Mar 10);9(10)

BACKGROUND: Fragile X syndrome (FXS) is a genetic disorder that typically presents with neurodevelopmental abnormalities. Patients with FXS can present with signs and symptoms of connective tissue disorder (CTD) and occasionally with vascular disease. However, cerebrovascular disease is not well documented in these patients, and it is unknown whether there is a direct link between abnormal levels of fragile X protein (FMRP) and its mRNA. OBSERVATIONS: Here, the authors present a rare case of an adult male with full mutation FXS of a high-functioning phenotype who presented with syncope, and on further evaluation, a fusiform dissecting aneurysm of the distal middle cerebral artery was identified. The patient was treated for the aneurysm and recovered successfully. LESSONS: Previous clinical evidence suggests that there might be an association between FMRP and increased mRNA levels on CTD and vascular pathologies in patients with FXS. This leads the authors to believe that their patient’s previous FXS diagnosis might have played a role in the spontaneous aneurysm and presents a novel area of inquiry in the clinical and pathological manifestations of this disease. Therefore, screening for underlying FXS genetic abnormalities in patients with CNS aneurysms and screening for aneurysms in those with these mutations might need to be considered. https://thejns.org/doi/10.3171/CASE24889.

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19. Safdar H, Sardar M, Shaukat F, Sarwar Abbasi A, Tunio M. Spontaneous Distal Ureteric Rupture in a Young Patient With Fragile X Syndrome. Cureus;2025 (Feb);17(2):e78666.

This report describes the case of a patient in her late teens with fragile X syndrome, developmental delay, and recurrent urinary tract infections who presented to the emergency department with a productive cough, weight loss, and being generally unwell over the past few weeks. She was found to have a firm, distended abdomen and, while being investigated for sepsis of unknown source, deteriorated rapidly and was intubated and ventilated in the intensive care unit (ICU). After multiple imaging studies, she was diagnosed with left ureteric rupture secondary to a left distal ureteric calculus, resulting in a urinoma in the left retroperitoneal space. An interventional radiology-guided drain was inserted to drain the urinoma, and a left nephrostomy and anterograde ureteric stent were inserted. Her condition improved after these interventions, and she was later extubated and discharged from the ICU to the general ward.

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20. Sato A, Itagaki S, Ohnishi T, Osakabe Y, Hoshino H, Kanno K, Suzutani K, Wada T, Miura I, Yabe H. Duration Mismatch Negativity in Adults With Autism Spectrum Disorder Versus Healthy Controls. Neuropsychiatr Dis Treat;2025;21:503-510.

OBJECTIVE: The mismatch negativity (MMN) reflects automatic cognitive function in response to auditory stimulation. The MMN to duration deviant (d-MMN) amplitude is known to be lower in children with autism spectrum disorder (ASD) than in healthy controls (HCs). Moreover, the d-MMN is known to be a trait maker of schizophrenia because it is unaffected by the duration of illness. This study aimed to identify robust tools to distinguish adults with ASD from HCs by measuring the d-MMN. METHODS: Fifteen adults with ASD (age range, 20-40 years) and 20 HCs were compared. After excluding patients with a low intelligence quotient, those using central nervous system stimulants, and those with excessive alcohol consumption, we conducted an auditory oddball task to measure the d-MMN. RESULTS: Compared with HCs, the patients with ASD showed significantly shorter d-MMN latencies for Fz and Cz. CONCLUSION: The present findings suggest that the automatic cognitive function indicated by MMN amplitude might be improved by growth. Alternatively, the hypersensitivity indicated by d-MMN latencies suggests that it could persist into adulthood. SIGNIFICANCE: The d-MMN latency was shortened in patients with ASD compared with HCs. We believe that this is the first report to reveal that hypersensitivity in ASD as reflected by a shortened d-MMN latency should be maintained, even in adults.

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21. Shih W, Gulsrud A, Kasari C. Caregiver strategies before intervention moderate caregiver fidelity and maintenance in RCT of JASPER intervention with autistic toddlers. JCPP Adv;2025 (Mar);5(1):e12247.

BACKGROUND: Interventions facilitated by caregivers have gained popularity among those caring for young children with autism. Instructing caregivers on specific techniques to foster social communication skills in their at-risk or diagnosed autistic children has the potential to alleviate concerns about their children’s development. Moreover, it can offer a more intensive early intervention compared to what community providers alone can deliver. This study seeks to explore the correlation between caregiver strategies employed prior to participating in a caregiver-mediated intervention and the caregiver’s fidelity to the intervention, as well as its sustainability during the follow-up period and child outcomes. This study constitutes a secondary analysis of a randomized controlled trial that compared the joint attention, symbolic play, engagement, and regulation (JASPER) and Psychoeducational Education Intervention (PEI), revealing significant advancements in children’s social communication skills with the JASPER intervention. METHODS: Eighty-six children (average age 31.5 months) with ASD and their primary caregivers enrolled in the two armed randomized trial evaluating the effect of JASPER versus PEI. Generalized linear mixed models were used to model the longitudinal trajectories of the outcomes. RESULTS: Results indicated that caregivers in the JASPER intervention made more gains in overall JASPER strategies and individual domain strategies (environment, prompt, communication, mirrored pacing) compared to the caregivers in PEI (p’s < 0.01) from baseline to exit. While both groups regressed some in overall and subdomain strategies at follow-up, caregivers in the JASPER intervention maintained more overall, and specifically in communication, and mirrored pacing strategies compared to PEI group (p's < 0.05). Further, baseline caregiver strategies moderated the treatment effect of child's joint attention skills from exit to follow-up (p = 0.002), where JASPER dyads with high caregiver strategy use at baseline continued to improve in JA skills post exit, whereas all other children did not. CONCLUSION: In summary, understanding caregiver style of interaction before intervention on caregiver fidelity and maintenance from exit to follow up and child progress is important to improving intervention uptake and child outcomes.

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22. Siracusano M, Stellato M, Carloni E, Miccolo G, Riccioni A, Moavero R, Voci A, Valeriani M, Galasso C, Pompili A, Pizzuti A, Bernardini L, Goldoni M, Mazzone L. Autism spectrum disorder and 3p24.3p23 triplication: a case report. J Med Case Rep;2025 (Mar 10);19(1):106.

BACKGROUND: The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and incomplete penetrance, such as nonsyndromic autism, and, in this case, are often inherited from an unaffected parent. Conversely, dominant syndromes, with high penetrance, can be caused by de novo occurring variants. CASE PRESENTATION: We describe the clinical case, with a detailed characterization of the neuropsychiatric profile, of an almost 3-year-old white (Italian) male child with autism spectrum disorder, developmental delay, mild dysmorphic traits, and congenital anomalies (cardiac septal defects, gliotic changes, thinned corpus callosum, and arachnoid cyst), carrying a 13 Mb de novo 3p24.3p23 triplication. CONCLUSION: Our case suggests that the 3p24 chromosome region could be associated with a syndromic form of autism spectrum disorder and contribute to delineate its distinct clinical features. The extent of the de novo variant described herein is suggestive of pathogenicity, although the genes potentially responsible for the patient’s phenotype are not easy to identify. We hypothesize that the dysregulation of SATB1, already associated to two syndromes (developmental delay with dysmorphic facies and dental anomalies and Den Hoed-De Boer-Voisin syndrome) with a phenotypic spectrum comparable to that of our patient, could be responsible for the clinical phenotype of this case, although the exact pathogenetic mechanism remains to be determined.

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23. Sotgiu S, Cavassa V, Puci MV, Sotgiu MA, Turilli D, Jacono AL, Nuvoli A, Masala S, Barisano G, Carta A. Enlarged perivascular spaces under the dorso-lateral prefrontal cortex and severity of autism. Sci Rep;2025 (Mar 9);15(1):8142.

The glymphatic system allows cerebrospinal fluid (CSF) flow along the brain’s perivascular spaces (PVS), aiding in the removal of harmful substances into the venous system. Previous studies have suggested that younger males with severe autism spectrum disorder (ASD) exhibit enlarged PVS (ePVS), although the specific regions or extent of PVS enlargement remain unclear. Additionally, it is still unknown whether the localization of ePVS correlates with specific ASD symptoms. Using automated MRI-based PVS quantification, we conducted a descriptive observational study to map the number, diameter, and volume of PVS across 72 brain areas, correlating these features with the clinical severity of autism and the presence or absence of three distinct ASD symptoms: language impairment, stereotypies, and hypersensoriality. The study involved 36 children with ASD (ages 1-9 years). A thorough analysis of ePVS in the white matter underlying 72 cortical areas revealed that different ASD symptoms exhibit specific ePVS localizations. Moreover, ePVS in the white matter beneath the two rostral middle frontal regions were associated with the overall clinical severity of ASD as well as specific symptoms (verbal dysfunction, stereotypies, and hypersensoriality). When these prefrontal subregions experience excessive PVS enlargement, it may lead to hypoactivity in the dorsolateral prefrontal cortex (DLPFC), contributing to the manifestation of ASD symptoms.

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24. Stancioiu FA, Bogdan R, Ivanescu B, Dumitrescu R. Autologous cord blood vs individualized supplements in autistic spectrum disorder: CORDUS study results. World J Clin Pediatr;2025 (Mar 9);14(1):96643.

BACKGROUND: Cellular therapies have started an important new therapeutic direction in autistic spectrum disorder (ASD), and the ample diversity of ASD pathophysiology and the different types of cell therapies prompt an equally ample effort to employ clinical studies for studying the ASD causes and cell therapies. Stem cells have yielded so far mixed results in clinical trials, and at patient level the results varied from impressive to no improvement. In this context we have administered autologous cord blood (ACB) and a non-placebo, material intervention represented by an individualized combination of supplements (ICS) to ASD children. AIM: To compare the efficacy of ACB vs ICS and find markers correlated with the child’s progress in order to better predict ACB efficacy. METHODS: CORDUS clinical study is a crossover study in which both oral ICS and intravenous ACB were sequentially administered to 56 children; ACB was infused as an inpatient procedure. Treatment efficacy was evaluated pre-treatment and post-treatment at 6 months by an independent psychotherapist with Autism Treatment Evaluation Checklist, Quantitative Checklist for Autism in Toddlers and a 16-item comparative table score, after interviewing the children’s parents and therapists. Before and after each intervention participants had a set of blood tests including inflammatory, metabolic and oxidative markers, and the neuronal specific enolase. RESULTS: No serious adverse reactions were noted during and after cord blood or supplement administration. ACB improved evaluation scores in 78% of children with age 3-7-years (n = 28), but was much less effective in kids older than 8 years or with body weight of more than 35 kg (n = 28; only 11% of children improved scores). ICS yielded better results than ACB in 5 cases out of 28, while in 23 kids ACB brought more improvement than ICS (P < 0.05); high initial levels of inflammation and ferritin were associated with no improvement. Ample individual differences were noted in children's progress, and statistically significant improvements were seen after ACB on areas such as verbalization and social interaction, but not on irritability or aggressive behavior. CONCLUSION: ACB has superior efficacy to ICS in ASD; high inflammation, ferritin, age and body weight predict less improvement; more clinical studies are needed for studying ACB efficacy in ASD.

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25. Sterling A, Lorang E, Reis K, Elmquist M. The Impact of Autistic Traits on Joint Attention in Young Children With Down Syndrome During Mother-Child and Father-Child Interactions. Am J Speech Lang Pathol;2025 (Mar 10);34(2):834-844.

PURPOSE: Joint attention predicts later language in Down syndrome (DS) and autism. The co-occurrence of autism in children with DS is 6%-19%, which is higher than in the general population. However, little is known about how co-occurring autism in DS impacts the development of joint attention. This study compared mother-child and father-child interactions in families of children with DS. Our purpose was to investigate differences in caregiver joint-attention bids and whether caregiver and child joint attention were associated with autistic traits and receptive language in children with DS. METHOD: Fifteen children with DS (M(age) = 39.67 months) and their biological caregivers participated in the current study. We collected mother-child and father-child interactions in participant’s homes. Using Wilcoxon signed-ranks tests, we examined if there were differences in mothers’ and fathers’ joint attention bids and if children responded differently to their bids. We used Spearman correlations to examine the associations between child autistic traits, receptive language, and caregiver and child joint attention. RESULTS: We found that mothers initiated more joint-attention bids than fathers but did not find differences in child responsiveness or initiations based on communication partner. Mothers used more bids when children had more autistic traits. Child autistic traits were negatively correlated with child responsiveness to father joint-attention bids. Children with more autistic traits produced fewer joint-attention bids with both caregivers. CONCLUSIONS: Findings suggest mothers and fathers may use differing approaches to support their child’s language development. Regardless of communication partner, children with more autistic traits engaged in fewer instances of joint attention.

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26. Tabaku M, Tomori S, Dervishi E, Kurushi E, Gjikopulli A, Cullufi P. Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene. Gene;2025 (Mar 10);940:149213.

White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features. Notably, the patient also presented with mild gastrointestinal symptoms and was diagnosed with celiac disease (CD) based on elevated tissue transglutaminase IgA levels, confirmatory duodenal biopsy and HLA typing. Based on the recent evidence implicating chromatin remodelling genes in CD and the known role of the POGZ protein as a regulator of chromatin remodelling, we cautiously propose, for the first time, to our knowledge that the POGZ gene may contribute to the pathogenesis of the celiac disease, providing evidence of a possible association between White-Sutton syndrome and CD. Comprehensive functional, genetic and epidemiological studies are needed to explore further this potential association, which may broaden the clinical spectrum of WHSUS and improve the understanding of CD-related epigenetic factors.

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27. Ten Hoopen LW, de Nijs PFA, Greaves-Lord K, Hillegers MHJ, Brouwer WBF, Roijen LH. Quality of Life and Societal Cost in Autistic Children: An Exploratory Comparative Study Pre- and Post-Diagnosis. J Autism Dev Disord;2025 (Mar 9)

Previous studies showed an impact of autism on the child’s quality of life and societal costs, although little is known about changes from pre- to post-diagnosis. Therefore, our study explored the utilization of health-related services and associated costs in a group of 36 clinically referred Dutch children with autism (aged 2-10 years), pre- and post-diagnosis. Taking a broad societal perspective, we included the child’s quality of life, educational needs, and absenteeism in school and leisure activities. Furthermore, we assessed the service utilization in various categories, such as healthcare, youth care, and school guidance. The caregivers, mainly the parents, provided the information. Special needs daycare was the overall major cost driver pre- and post-diagnosis. We found a non-significant decrease in total annual costs (from €6513 to €5060). Post-diagnosis, healthcare costs were halved, changing towards less somatic and more mental healthcare. No shift to adjacent cost categories was seen. At the same time, the child’s quality of life improved not significantly from 0.58 to 0.66 (EQ-5D-3L), with significantly fewer everyday activity problems. In addition, we observed a trend of less school absenteeism after the diagnosis. Regression analysis identified pre-diagnostic costs as the sole independent factor influencing post-diagnostic costs, explaining 23% of the variance. Our findings suggest the importance of timely clarification of autism as a foundation for informed intervention and treatment planning. This could potentially result in improved quality of life, appropriate service allocation, and reduced societal costs.

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28. Wang P, Wen X, Lei Y, Guo Y, Li J, Hao Y, Cao R, Gao C, Cao R. MCDGLN: Masked connection-based dynamic graph learning network for autism spectrum disorder. Brain Res Bull;2025 (Mar 7);224:111290.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by complex physiological processes. Previous research has predominantly focused on static cerebral interactions, often neglecting the brain’s dynamic nature and the challenges posed by network noise. To address these gaps, we introduce the Masked Connection-based Dynamic Graph Learning Network (MCDGLN). Our approach first segments BOLD signals using sliding temporal windows to capture dynamic brain characteristics. We then employ a specialized weighted edge aggregation (WEA) module, which uses the cross convolution with channel-wise element-wise convolutional kernel, to integrate dynamic functional connectivity and to isolate task-relevant connections. This is followed by topological feature extraction via a hierarchical graph convolutional network (HGCN), with key attributes highlighted by a self-attention module. Crucially, we refine static functional connections using a customized task-specific mask, reducing noise and pruning irrelevant links. The attention-based connection encoder (ACE) then enhances critical connections and compresses static features. The combined features are subsequently used for classification. Applied to the Autism Brain Imaging Data Exchange I (ABIDE I) dataset, our framework achieves a 73.3 % classification accuracy between ASD and Typical Control (TC) groups among 1035 subjects. The pivotal roles of WEA and ACE in refining connectivity and enhancing classification accuracy underscore their importance in capturing ASD-specific features, offering new insights into the disorder.

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29. Williams NA, Sokhela DG, Ngxongo TSP. Challenges hindering family involvement in the hospital nursing care of a child with autism. Health SA;2025;30:2731.

BACKGROUND: Family involvement is crucial in a child’s treatment; however, many professional nurses still neglect to involve families in their child’s care. Studies have indicated that the perceived lack of family involvement in hospitalised children with autism spectrum disorder (ASD) is a problem in many countries. Few studies have been conducted in Africa with none relating to family involvement, highlighting the need for further research. AIM: To develop in-depth insights into the challenges regarding family involvement in hospital nursing care of children with ASD, in the South African context. SETTING: Paediatric wards at selected private hospitals and family homes in the eThekwini District of KwaZulu-Natal. METHODS: An interpretative phenomenological analysis method was used. A sample of 10 professional nurses and 10 family members was achieved by purposive sampling. Data were collected from participants using semi-structured in-depth interviews. RESULTS: The following challenges were identified by the participants: the lack of knowledge of nurses regarding ASD, nurses not listening to family, uncaring attitude of nurses, nurses’ lack of time and shortage of nursing staff. CONCLUSION: Nurses play a pivotal role in overcoming the challenges to family involvement, in the hospital nursing care, of a child with ASD. Making nurses aware of the challenges will help improve family involvement in hospitals nursing for the child with ASD. CONTRIBUTION: This study added to the body of knowledge by identifying the challenges to the involvement of families in the hospital nursing care of a child with ASD.

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30. Zhou J, Tong J, Liang C, Wu P, Ouyang J, Cai W, Sheng J, Gao G, Yan S, Tao F, Huang K. Prenatal placental metal accumulation and its association with child attention deficit/hyperactivity disorder and autism spectrum disorder symptom at 3 years of age: The role of psychosocial-environmental support in infancy. Environ Res;2025 (Mar 7);274:121294.

The placenta is recognized as a barrier to the passage of harmful substances and is an ideal biomonitoring sample for assessing cumulative prenatal exposure to metals. However, scientific knowledge is insufficient regarding the effects of cumulative prenatal exposure to metal mixtures on behavioral development in early life. This study included 2154 mother-infant pairs from the Ma’anshan Birth Cohort study. Concentrations of eleven metals in the placenta were quantified, and attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) symptom were assessed in 3-year-old children. Thrive factor (T-factor) scores, derived from factors such as breastfeeding, sleep, parenting style, secondhand smoke exposure, family income, and parental absence, were calculated during infancy. It was found that elevated concentrations of cadmium (Cd) (OR: 1.36, 95% CI: 1.06, 1.75), manganese (Mn) (OR: 1.34, 95% CI: 1.02, 1.77), and copper (Cu) (OR: 1.53, 95% CI: 1.05, 2.23) in the placenta were associated with increased ADHD risk in children. Additionally, arsenic (As) showed a moderate association with ADHD risk (OR: 1.34, 95% CI: 0.99, 1.83). Results from the Bayesian Kernel Machine Regression (BKMR) model indicated significant positive associations between the mixture of placental metals and ADHD symptom risk when all eleven metal concentrations were elevated. The quantile-based g-computation (Qgcomp) approach also suggested a nearly significant association between the total mixture of eleven metals/elements and ADHD symptom risk (OR: 1.27, 95% CI: 0.97, 1.65). Among the metals, Cd was the largest contributor to the positive association, followed closely by Cu, cobalt (Co), Mn, mercury (Hg), As, and chromium (Cr). Conversely, zinc (Zn) was the largest contributor to the negative association, followed by selenium (Se) and lead (Pb). Further analysis revealed that a simultaneous increase in metal concentrations (Cd, Cu, Co, Mn, Hg, As, and Cr) by one quartile was significantly associated with ADHD symptom risk (OR: 1.31, 95% CI: 1.03, 1.69). Moreover, higher T-factor scores, composed of breastfeeding, sleep, parenting style, secondhand smoke exposure, household income, and parental absence, were significantly associated with decreased ADHD and ASD symptom risk at age 3. We observed a gradual attenuation or even disappearance of the associations of placental Cu and Mn with ADHD symptom as T-factor scores increased. Our findings suggest that Cd, Cu, and Mn are key metals associated with ADHD risk in early life, and that psychosocial environmental factors in infancy are potential modifiers of these associations.

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