1. Bhosale MM, Prabhakaran A, Rao AP. A qualitative study on the experiences of caregivers on menstrual management of adolescent girls with developmental disabilities in selected special schools of Karveer Taluka, Maharashtra. BMC Womens Health. 2025; 25(1): 471.

BACKGROUND: Adolescent Girls with Developmental Disabilities (AGDD) face unique challenges in menstruation management, requiring care and support from both informal and formal caregivers. Limited research has explored the experiences of these caregivers in managing AGDD’s menstrual health, particularly in this study setting. OBJECTIVE: This study seeks to explore the experiences and perspectives of the informal and formal caregivers on the menstruation management of adolescent girls with developmental disabilities in selected special schools in Karveer Taluka, Maharashtra. METHODS: A qualitative study was conducted among informal caregivers (family members) and formal caregivers (special school staff) of those AGDD, who were aged 10-19 years, had attained menarche, and were attending three selected special schools of Karveer Taluka, Maharashtra, India. In-depth interviews (IDI), in the local language, Marathi, using an IDI guide developed based on a conceptual framework, were conducted among 14 informal and 13 formal caregivers. Interviews were audio-recorded with consent and transcribed verbatim. A thematic analysis using deductive and inductive approaches was carried out using MAXQDA software. Some codes and themes were deductively generated from the interview guide/conceptual framework, and others were generated inductively from the data. The transcripts were coded line by line and later grouped under relevant categories. Categories were grouped into subthemes, and broader themes were derived from the subthemes. The themes were interpreted and analyzed, and appropriate conclusions were drawn. RESULTS: Four deductive and one inductive theme were generated: The deductive themes are challenges faced by informal caregivers in managing menstruation of AGDD, patterns of menstrual acceptance and behavioural changes among AGDD, long-term concerns of the informal caregivers and perspectives on menstrual management, and recommendations given by the informal and formal caregivers for supporting AGDD. The inductive theme generated is the role of formal caregivers in training AGDD in menstruation management. CONCLUSION: The study underscores the critical role of informal and formal caregivers and their challenges in managing AGDD’s menstrual health, highlighting the need for targeted training and support programs.

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2. Bruno G, Lindblom A, Tupou J, Kewene F, Waisman TC, Magiati I. Decolonizing autism research: Integrating indigenous ways of knowing, being, and doing. Autism. 2025: 13623613251382398.

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3. Dawood Z, Sebolai K, Ndlovu M, Viljoen M, Seris N, Shabalala N, De Vries PJ, Franz L, Harty M. Detecting change in a caregiver-mediated autism intervention using the Joint Engagement Rating Inventory. S Afr J Commun Disord. 2025; 72(1): e1-e11.

BACKGROUND: The Joint Engagement Rating Inventory (JERI) can be used to measure response to early autism intervention. However, little is known about the utility of the JERI outside the United States, where it was developed. A South African study found the JERI to be a reliable and accurate measure of joint engagement and communication between young autistic children and their caregivers. The next step was to determine if the JERI could be used to detect changes in the behaviours of child and caregiver in response to intervention. OBJECTIVES: This proof-of-principle study aimed to evaluate whether the JERI could detect signals of change in the behaviours of child and caregiver in response to 12, 1-h naturalistic developmental behavioural intervention-informed caregiver coaching sessions. METHOD: A single-arm pre-post design was utilised. Standardised video-recorded caregiver-child interactions were completed before and after intervention. Two raters, blinded to intervention time-point, coded the JERI. Ten dyads completed coaching and video-recorded assessments. Data analysis included inter-rater reliability, Wilcoxon signed-rank test for paired samples and visual summaries. RESULTS: Weighted Kappa values for 13 of the 16 JERI items indicated moderate to strong inter-rater agreement. Significant changes in symbol-infused joint engagement (z = -2.46, p = 0.01) and expressive language (z = -2.156, p = 0.03) were detected. Visual summaries showed change signals in 15 JERI ratings. CONCLUSION: Findings suggest that the JERI has the potential to detect change in the context of a caregiver-mediated intervention.Contribution: The JERI was shown here, for the first time in an African context, to be a potential outcome measure for early autism intervention research.

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4. Ferrer Knight A, Birtles D. ‘I feel trapped in my safe clothes’: The impact of tactile hyper-sensitivity on autistic adults. Autism. 2025: 13623613251366882.

Clothing-related tactile hyper-sensitivity has been frequently reported among autistic people, but research investigating how this affects autistic adults is limited. This mixed-methods study investigated the impact of clothing-related tactile hyper-sensitivity on autistic adults’ lives, focusing on appearance dissatisfaction, appearance awareness, self-esteem and self-expression through clothing. An online survey was completed by 86 autistic adults in the United Kingdom. Regression analysis revealed a significant predictive relationship between tactile hyper-sensitivity and appearance dissatisfaction. Moderation analysis revealed a significant negative relationship between tactile hyper-sensitivity and self-esteem, moderated by appearance dissatisfaction. Moderation of the relationship between appearance dissatisfaction and self-esteem by appearance awareness was not significant, but both appearance constructs were independent negative predictors of self-esteem. Three themes relating to the impacts of clothing-related tactile sensitivity were generated through thematic analysis of open-ended questions: ‘Negative consequences’, ‘Managing clothing-related tactile sensitivity’ and ‘The emotional value of clothing’. Altogether, the findings indicate that clothing-related tactile sensitivity is prevalent and can impact autistic adults’ appearance satisfaction, self-esteem, clothing options and choices, and self-expression through clothing. This highlights the need for a wider choice and availability of sensory-friendly clothing and further research exploring the diverse effects of tactile hyper-sensitivity on autistic people’s lives, including mental health outcomes and employment opportunities.Lay abstractMany autistic people experience strong reactions to sensory information, such as certain sounds or smells. Tactile hyper-sensitivity is the strong, negative reaction to touch. Previous research suggests autistic children experience tactile hyper-sensitivity towards clothing, such as disliking labels or seams touching them. However, little is known about tactile hyper-sensitivity towards clothing in autistic adults and how this affects how they see themselves, feel about their appearance and express themselves through clothing. This study explored this by asking 86 autistic adults in the United Kingdom to complete an online survey. The results showed that autistic adults with a higher level of tactile hypersensitivity are more likely to be dissatisfied with their appearance, and that higher tactile hyper-sensitivity is also linked to lower self-esteem among autistic adults who are unhappy with how they look. Autistic adults with greater awareness and dissatisfaction with their appearance were also found to have lower self-esteem. In addition, autistic adults shared with us that sensory sensitivity towards clothing can negatively affect how they feel physically and emotionally, and their ability to take part in activities such as formal social events. Autistic adults have different ways of managing this, such as buying multiple of the same sensory-friendly clothing item, inspecting clothes in shops before buying them and only wearing clothes that feel comfortable. Being able to wear clothes they like and that reflect who they are is important for many autistic adults; but difficulties finding comfortable clothing left some autistic adults feeling frustrated, unhappy with their appearance and less confident. Together, the findings suggest that access to sensory-friendly clothing is very important for autistic adults’ well-being. These findings are relevant for mental health professionals working with autistic adults, clothing brands and workplaces with a dress code or uniform.

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5. Fiori Nastro F, Pelle M, Clemente A, Corinto F, Prosperi Porta D, Sonnino Y, Gelormini C, Di Lorenzo G, Ribolsi M. Investigating Aberrant Salience in Autism Spectrum Disorder and Psychosis Risk: A Cross-Group Analysis. Early Interv Psychiatry. 2025; 19(10): e70099.

AIM: This study investigates the expression of aberrant salience (AS) in individuals with autism spectrum disorder (ASD), those at clinical high risk for psychosis (CHR-P) and help-seeking individuals without formal diagnoses. METHODS: Ninety-nine participants, 44 males and 55 females (age range 17-39 years), met the inclusion criteria of absence of major neurological disorders, intellectual disabilities or substance-related conditions. None were receiving antipsychotic treatment. Based on clinical evaluations, participants were categorised into three groups: ASD (n = 23), Attenuated Psychosis Syndrome (APS) (n = 27) and help-seekers (n = 49). The Aberrant Salience Inventory (ASI) was administered. RESULTS: Significant differences were observed in ASI total and subscale scores among groups. Post hoc analyses showed significantly higher ASI scores in the ASD and APS groups compared to help-seekers, but no significant differences between ASD and APS. CONCLUSIONS: These findings suggest an overlap in AS processing between ASD and psychosis-spectrum conditions, supporting AS as a transdiagnostic construct.

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6. Furley K, Hunter M, Gawade G, Absoud M, Mehra C, Kochel R, Fahey MC, Williams K. Towards an agreed approach to investigate children with developmental regression. BMJ Paediatr Open. 2025; 9(1).

AIM: Children presenting with developmental regression are inconsistently investigated, leading to unacceptable delays to diagnosis for some children. This study sought global expert opinion to develop an agreed approach to investigate children presenting with developmental regression. METHOD: A Delphi survey collected clinician participant choice of investigations in response to case scenarios of children presenting with developmental regression and differing presenting features. Participants responded to two surveys, and consensus was achieved at 70% agreement. Results were analysed using descriptive statistics (number of responses and percentage agreement). Fifty participants completed the first-round survey, and 31 completed round two. Forty-eight percent of participants who completed both rounds had over 20 years of experience in caring for children with developmental regression. They represented four different clinician specialties and worked across five countries. RESULTS: For each of the four scenarios, there was agreement to recommend haematological, biochemical and genetic investigations as first investigations. Endocrine, metabolic and neurophysiological investigations reached consensus for scenarios based on presentation differences. INTERPRETATION: Participants agreed on first investigations to recommend for children presenting with developmental regression. This is an important initial step towards an agreed approach to investigate children with developmental regression needed to reduce inconsistencies in current care.

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7. Lee JD, Meadan H, Sands MM, Terol AK, Martin Loya MR, Yoon CD. A quality appraisal of cultural adaptation of caregiver-implemented interventions for young autistic children. Transcult Psychiatry. 2025: 13634615251372855.

Many evidence-based practices in autism aim to improve outcomes for both family and child. Caregiver-implemented intervention is one example of such evidence-based practice as it aims to strengthen caregivers’ capacity in a natural environment. Although caregiver-implemented interventions in early autism intervention are supported by research and used by many practitioners and families, marginalized families of young autistic children from diverse cultural or linguistic backgrounds require additional adaptations to these interventions for increased contextual fit. Without these adaptations, interventions may not be equitably accessible among marginalized families who are underrepresented in autism research. While literature suggests that cultural adaptation of interventions may be an effective way to ensure equitable implementation, it is still difficult to claim its effectiveness among these populations without appraising the quality and rigor of cultural adaptation. Therefore, we conducted a review of 16 studies of caregiver-implemented interventions that were culturally adapted or tailored using the Cultural Adaptation Checklist, a novel tool for appraising the quality of cultural adaptation based on the ecological validity framework and implementation science. The results revealed great variation and use of a wide range of practices in cultural adaptation. Limitations of current literature and implications for future research are discussed.

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8. Li M, Kui X, Yang S, Nie Z, Chen H, Yao P, Xu X, Shen C, Li Z, Zhao H, Wen J, Huang X, Yang J, Yan J, Wang P, Li B, Cao X. LdIL-2 treatment in ASD: a novel immunotherapeutic approach targeting Th/Treg dysfunction and neuroinflammation. Transl Psychiatry. 2025; 15(1): 376.

A significant proportion of children with Autism Spectrum Disorder (ASD) present with immune imbalances. In this study, we sought to alleviate the core symptoms of autism by addressing immune dysregulation, especially T-cell subpopulation imbalances, in BTBR mice through low-dose IL-2 (LdIL-2) treatment. LdIL-2 (30,000 IU) was administered subcutaneously, and changes in autistic behaviors were observed before and after treatment. Behavioral assessments included the three-chamber test, self-grooming test, sniffing test, marble burying test, open field test and Y-maze test. We also examined alterations in peripheral Th/Treg ratios, cytokine levels, and M1/M2 microglia ratios in the central nervous system via flow cytometry. Neuroinflammatory proteins in cerebrospinal fluid were assessed using proteomic analysis. Furthermore, CD25(+) Treg cells were depleted using PC61, followed by LdIL-2 intervention, to determine the role of Treg cells in LdIL-2-treated BTBR mice. Our results demonstrated that LdIL-2 significantly ameliorated core symptoms of autism in BTBR mice. LdIL-2 treatment increased Treg cell levels, restored Th17/Treg and Tfh/Treg balance, and corrected immune dysregulation. Central nervous system inflammation was reduced in mice. However, the behavioral improvements were diminished when Treg cells were depleted by PC61. This study represents the first attempt to treat ASD using LdIL-2. The treatment proved safe and effective in improving both core symptoms and immune imbalances in autism. Symptom improvement was linked to increased Treg cell levels in peripheral blood. LdIL-2 shows potential as a novel therapy for addressing core symptoms of autism.

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9. Li XH, Lui M, Song XK, Li YR, Liu XY, Pi R, So WC. Comparative Effectiveness of Human- and Robot-Based Interventions in Increasing Empathy Among Autistic Children. J Autism Dev Disord. 2025.

METHODS: A total of 82 Chinese-speaking children with autism aged 4-9 years were assigned to an HBI or an RBI group through stratified randomization. Before the intervention, the children’s autism severity, verbal comprehension, and Theory of Mind skills were assessed. Each child received four 30-min training sessions over 4 weeks, during which they watched four dramas performed by human or robot actors, in which one character shared an event with another character, who then displayed an empathic response. Parents completed a questionnaire before, immediately after, and 1 month after the intervention, and children’s cognitive empathy (CE), affective empathy (AE), and prosocial behavior (PB) were evaluated in an experimental task. RESULTS: Both RBI and HBI training promote empathy skills, specifically CE, AE, and PB, as evaluated through children’s verbal responses in story tasks. CONCLUSION: RBI empathy training demonstrates comparable reliability and effectiveness to human teaching, suggesting that RBIs can assist human therapists in promoting empathy in children with autism. Our randomized controlled trial was registered in the Chinese Clinical Trial Registry (no. ChiCTR2300077745, https://www.chictr.org.cn ).

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10. Liu D, Tao K, Sun Y, Hao J, Wang S. The role of the Wnt/BDNF pathway in maternal SCH-induced autism-like phenotypes in offspring rats: behavioral and molecular mechanisms. Transl Psychiatry. 2025; 15(1): 387.

Maternal subclinical hypothyroidism (SCH) has been associated with neurodevelopmental disorders, but the molecular mechanisms underlying its impact on offspring behavior remain poorly understood. This study investigates the role of the Wnt/BDNF signaling pathway in the development of autism-like behaviors in male offspring rats born to SCH mothers. Our findings demonstrate that maternal SCH induces significant behavioral abnormalities in the offspring, including increased grooming behavior and deficits in social interaction, which are hallmarks of autism spectrum disorder (ASD). These behaviors correlate with alterations in hippocampal protein expression, particularly a decrease in Brain-Derived Neurotrophic Factor (BDNF) and key signaling molecules involved in neuronal survival, such as cAMP response element-binding protein (CREB) and B-cell lymphoma 2 (Bcl-2). Additionally, we observe a marked upregulation of mTOR gene expression and a downregulation of Wnt signaling in the hippocampus of SCH-exposed offspring. These molecular changes are consistent with disrupted synaptic plasticity and neurogenesis, which are critical processes for cognitive and social development. Our study further reveals that impaired Wnt/BDNF signaling may play a pivotal role in the pathogenesis of autism-like behaviors in these offspring. Moreover, sex-specific differences were observed in the behavioral manifestations, with male offspring showing more pronounced deficits, suggesting a gender-dependent sensitivity to maternal SCH. This research provides novel insights into the molecular pathways by which maternal thyroid dysfunction contributes to neurodevelopmental disorders, offering potential targets for therapeutic intervention.

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11. Melinda M, Purnamasari PD, Fahmi F, Sinulingga EP, Muliyadi M, Away Y, Yunidar Y, Juwono FH. A comprehensive EEG dataset and performance assessment for Autism Spectrum Disorder. Sci Rep. 2025; 15(1): 34981.

Autism Spectrum Disorder (ASD) diagnosis can greatly benefit from more efficient and accurate tools to enable early intervention and reduce long-term healthcare costs associated with delayed diagnosis. Electroencephalography (EEG) has emerged as a promising non-invasive technique for detecting neural patterns linked to ASD. This research evaluates the effectiveness of three preprocessing techniques, Butterworth, Discrete Wavelet Transform (DWT), and Independent Component Analysis (ICA), in enhancing EEG signal quality for ASD classification. The performance of each method is assessed using Signal-to-Noise Ratio (SNR), Mean Absolute Error (MAE), Mean Squared Error (MSE), Spectral Entropy (SE), and Power Spectral Density (PSD) analysis to explore frequency band distribution. Additionally, Hjorth parameters-activity, mobility, and complexity-are computed to capture neural dynamics associated with ASD. Results showed that ICA achieved the highest SNR values (normal: 86.44, ASD: 78.69), indicating superior denoising capability, while DWT offered the lowest error metrics (MAE: 4785.08, MSE: 309,690 for ASD), demonstrating its robustness in preserving signal characteristics. Butterworth provided moderate results across metrics. Notably, Hjorth parameters revealed that neurotypical EEGs exhibited higher activity and complexity, highlighting distinct neural dynamics compared to ASD. These findings suggest that ICA is optimal for applications prioritizing signal clarity, while DWT offers a balanced approach for feature preservation in ASD EEG analysis. These findings are expected to support the development of more accurate, EEG-based diagnostic tools for ASD that can be integrated into clinical decision support systems and early screening programs.

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12. Odamah K, Man HY. Restoration of NEXMIF expression rescues abnormalities in gene transcription, neuron maturation and autistic-like behaviors in Nexmif knockout mice. Transl Psychiatry. 2025; 15(1): 361.

NEXMIF is an X-linked gene implicated in encephalopathy with symptoms of autism spectrum disorder (ASD), intellectual disability, and seizures. Our previous work demonstrated that Nexmif knockout (KO) male mice show autistic-like behaviors and memory deficits, accompanied by significant abnormalities in neuronal development and function. However, to date there are no available therapeutics for NEXMIF-related disorders. Here, as a proof-of-concept study, we examined the effect of postnatal reintroduction of the NEXMIF gene as a strategy for rescuing the impaired cellular and behavioral phenotypes in KO mice. We find that injection of a human NEXMIF lentivirus into KO mouse brains at postnatal day 1 (P1) leads to a restoration in synaptic protein expression and formation of dendritic spines. More importantly, postnatal NEXMIF expression ameliorated behavioral defects in repetitive behavior, sociability, social novelty preference, and cognition at adolescent ages, in addition to restoring dysregulated gene expression. These findings suggest that gene reintroduction at a postnatal stage may serve as a rescue strategy for neurodevelopmental and behavioral deficits caused by NEXMIF deficiencies.

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13. Pérez-Fuster P, Herrera G, Vera L, Nadel J, Tijus C, López-Fernández A, Stancheva M, Kozareva Y, Andreeva A, Büyüksoylu S, Avşar A, Koçak E, Leppink J. Pictogram room augmented reality technology games improve body knowledge, imitation, and joint attention skills in autistic children with intellectual disability. Sci Rep. 2025; 15(1): 34966.

Body knowledge, imitation, and joint attention are foundational for child development, yet many autistic children with intellectual disability struggle to acquire these skills. This study evaluated the effects of an educational intervention using Pictogram Room (PR), an open-access augmented reality (AR) technology program with games targeting these abilities. Twenty-three autistic children with intellectual disability (ages 7-14) from Spain, Bulgaria, and Türkiye participated. A stepped wedge randomized design was implemented across two groups. Over 27 sessions, delivered in their usual educational settings by their regular staff, participants showed significant and sustained improvements in body knowledge, imitation, and joint attention. This is the first AR-based intervention shown to simultaneously enhance these three core skills in this population. The program is brief, socially valid, and requires no specialized training, making it a promising tool for inclusive educational practice.

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14. Peter C, Antoniou MP, Antonietti E, Osório JA, Amoussou JR, Chabane N, Rodríguez-Herreros B. The use of eye-tracking to find objective outcome measures of early intervention strategies for children with autism: a systematic review. Neurosci Biobehav Rev. 2025: 106391.

OBJECTIVE: Early intervention strategies are recommended for children with autism to improve cognitive and social communication skills. However, there is a persistent challenge to identify objective outcome measures of intervention efficacy. Eye-tracking (ET) is a safe and well-tolerated technology able to detect differences in visual attention through gaze behavior. This systematic review aims to identify, appraise and summarize the existing literature using ET to track response to early intervention in autism clinical trials. METHOD: A comprehensive literature search was conducted in December 2024 in several bibliographic databases, including Medline ALL Ovid, Embase.com, APA PsycInfo Ovid, the Cochrane Library Wiley and PubMed Central. Additionally, we searched trial registries and we performed citation tracking strategies. We retained randomized controlled trials (RCTs) incorporating an ET outcome measure to evaluate the effect of direct, parent-mediated and pharmacological early interventions. Quality was assessed using Risk of Bias 2 and GRADE. RESULTS: Out of 1’726 reports screened, eleven articles from nine unique studies met inclusion criteria, with overall low-to-moderate risk of bias. Six out of the nine intervention approaches showed improvements in several indices of visual attention measured with different ET paradigms. We also identified 24 RCTs registered with an ET outcome measure yet without published results. CONCLUSION: ET proved to be a clinically relevant measure sensitive to change in several interventional contexts. However, not all ET paradigms measured change over time reliably, compromising interpretability. Further research is needed to ensure that ET potentially becomes an accessible and accurate tool for widespread adoption in clinical practice.

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15. Pittaway M, Hanley JP, Lincoln AE, Dixon-Ibarra AM, Foley JT. Global variation of low bone mineral density in special olympics adult athletes with intellectual and developmental disability-A cross-sectional study. PLOS Glob Public Health. 2025; 5(10): e0005125.

Adults with intellectual and developmental disabilities (IDD) face a high risk of low bone mineral density (LBMD), a key osteoporosis indicator, yet global data remains limited. Understanding LBMD prevalence among adults with IDD is crucial for targeted public health interventions. This study examines LBMD variations in Special Olympics athletes, stratified by age, sex, and World Health Organization (WHO) global region, and explores bone mineral density (BMD) levels achieved during peak bone mass (PBM) age (20-29 years). This cross-sectional study analyzed data from 25,868 Special Olympics athletes (20 + years) screened in Healthy Athletes between 2011-2023. BMD testing was conducted by licensed clinicians, and institutional review board approval was obtained to use this deidentified data. BMD was assessed via Quantitative Ultrasound, and WHO criteria classified T-score status. LBMD prevalence (<-1.0 T-score) was examined across age, sex, and global regions. Chi-square, rate ratios with 95% confidence intervals, and binomial logistic regression were calculated to analyze LBMD and PBM across age, WHO regions, and sex. Overall, 26.9% had LBMD, with similar prevalence in males (27.3%) and females (26.3%). LBMD increased annually by 1.43% in males and 2.50% in females. Highest LBMD prevalence was seen in Eastern Mediterranean females (52.4%) and Southeast Asian males (48.7%) and females (45.5%). Alarmingly, 54.9% failed to achieve optimal BMD (≥0.0) before age 30, with 24.4% of 20-29-year-olds already having LBMD. These findings highlight the need for early interventions, including nutrition, weight-bearing exercise, and routine screening, to improve bone health and reduce healthcare costs in adults with IDD. Policymakers must prioritize bone health initiatives to address disparities and enhance lifelong skeletal health.

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16. Poglitsch C, Reiss A, Wriessnegger SC, Pirker J. Large language models for autism: evaluating theory of mind tasks in a gamified environment. Sci Rep. 2025; 15(1): 34763.

Autism Spectrum Disorder often significantly affects reciprocal social communication, leading to difficulties in interpreting social cues, recognizing emotions, and maintaining verbal interactions. These challenges can make everyday conversations especially demanding. To support autistic people in developing their social competence and communication abilities, we propose an interactive game specifically designed to enhance social understanding. By incorporating gamification elements and a user-centered design approach, the application aims to balance clinical relevance with high usability, ensuring it remains accessible, engaging, and beneficial for anyone seeking to improve their social skills. Large Language Models have recently been assessed for their ability to detect sarcasm and irony within Theory of Mind tasks, showing performance comparable to that of trained psychologists. However, a significant limitation remains: their dependence on traditional « black box » AI architectures, which often lack explainability, interpretability, and transparency. This limitation is particularly concerning when people with and without Autism Spectrum Disorder use these models to learn and practice social skills in safe, virtual environments. This study investigates and compares the performance of Large Language Models and human experts in evaluating Theory of Mind tasks, providing a detailed comparative analysis. A total of 21 participants engaged with our game, and their responses were assessed by four human experts alongside GPT-4o. The results indicate that GPT-4o matches human experts in both adherence to instructional criteria and evaluation accuracy, with no statistically significant differences observed. These findings underscore the potential of LLMs to support scalable, always-available social training systems that are accessible from anywhere.

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17. Rousselot-Pailley B, Semeraro M, Marquant F, Robel L, Gitiaux C, Kaminska A, Mochel F, Bakouboula P, Elie C, Hennequin C, Ceballos-Picot I, Sanquer S, de Lonlay P. Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency. J Inherit Metab Dis. 2025; 48(6): e70092.

Adenylosuccinate lyase deficiency (ADSLD) is a rare neurological disorder characterized by psychomotor retardation, autistic behaviors, and seizures, with no specific treatment available. ADSL catalyzes the transformation of succinylaminoimidazole carboxamide ribotide (SAICAr) to AICAR, and succinyl-AMP (S-AMP) to AMP. The pathogenesis of the disease is primarily attributed to the toxicity of elevated SAICAr concentrations. Allopurinol, used primarily for hyperuricemia, inhibits purine synthesis and may reduce SAICAr levels. We hypothesized that administering allopurinol could decrease SAICAr levels and lead to clinical improvement. A Phase II, prospective trial evaluated the efficacy of allopurinol in patients with ADSLD over 12 months. Eight participants (four children, four young adults) with developmental delay and high SAICAr levels received Zyloric (10-20 mg/kg/day, maximum 400 mg/day for children and 900 mg/day for adults). The study assessed changes in adaptive and cognitive functioning, behavior, and urinary levels of SAICAr and succinyl-adenosine (S-Ado). Results showed clinical improvements in younger, less cognitively impaired patients, indicated by better Vineland Adaptive Behavior Scale (VABS II) scores and reduced hyperactivity on the Aberrant Behavior Checklist (ABC) and Conners Rating Scale-Revised (CRSR). These improvements correlated with significant decreases in urinary SAICAr levels and an increased S-Ado/SAICAr ratio. No changes were observed in older or noncompliant patients. Allopurinol had no effect on epilepsy but was well tolerated. Allopurinol showed behavioral and developmental benefits in younger ADSLD patients, suggesting that it may be a viable treatment option.

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18. Ruiz Brunner M, Macagno G, Laquis M, Cieri E, Gabe M, Condinanzi AL, Gil C, Cuestas E. Avoidant/restrictive food intake disorder in childhood autism: a narrative review. Arch Argent Pediatr. 2025: e202510745.

Avoidant/restrictive food intake disorder (ARFID), defined by the DSM-5, affects children’s growth and development and is common in those with autism spectrum disorder (ASD). This update aims to describe the causes, consequences, detection strategies, and therapeutic approaches to ARFID in children diagnosed with ASD, based on published scientific articles. Original articles, reviews, meta-analyses, and clinical trials published between January 2016 and February 2025 in peer-reviewed journals were included in this review. The search was conducted in PubMed, Cochrane Library, and Google Scholar using the descriptors « ARFID AND AUTISM. » Only fulltext studies in English or Spanish focusing on the pediatric population were considered; we found 23 relevant publications. This study explores how ASD characteristics can influence ARFID symptoms. Considering the findings, recommendations, and treatments based on clinical trials and meta-analyses are analyzed.

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19. Saudin SN, Abdulshakoor A, Ngowi A, Kyejo W, Matillya N, Orwa J, Ratansi R. Quality of life among caregivers of children and adolescents with autism spectrum disorder in Dar es Salaam, Tanzania. BMC Pediatr. 2025; 25(1): 776.

BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social, communication, and cognitive domains of brain function. The unexpected challenges and specific needs related to caring for children with ASD often have a detrimental effect on the Quality of Life (QoL) of caregivers. In Tanzania, there is growing recognition of ASD, yet research on its impact on caregivers remains limited. This study seeks to assess QoL among caregivers of children and adolescents with ASD, and the associated sociodemographic factors. Findings from this study will help inform comprehensive interventions aimed at improving both, caregiver wellbeing and overall outcomes for families of children with ASD. METHODS: A cross-sectional study was conducted among 106 caregivers of children with ASD. Caregivers were recruited at two tertiary hospitals in urban Dar es Salaam from May to July 2023. The WHOQOL-BREF self-administered questionnaire was employed to assess caregivers’ QoL. Sociodemographic data for both children and caregivers were analyzed using medians (interquartile range) and frequency (percentages). The WHOQOL-BREF results were summarized into four distinct domains, with each domain score compared across sociodemographic characteristics using independent t-tests and Analysis of Variance (ANOVA). Simple and multiple linear regression analyses were conducted for each QoL domain to evaluate significant associations between sociodemographic variables and QoL outcomes. RESULTS: The majority (79.2%) of caregivers reported having poor or average QoL, with impairments noted across all domains, particularly in the environment and social relationships domains. Significant negative predictors of caregiver QoL included older age (> 35 years), being separated or widowed, unemployment, and lack of formal education. Child-related factors associated with poorer caregiver QoL were older age (> 12 years), longer duration since diagnosis, and absence of school placement. CONCLUSION: By focusing on this fundamental yet overlooked aspect of ASD research, this study addresses an important gap in literature, highlighting the repercussions on wellbeing of caregivers as they play a critical role in nurturing children with ASD. This study calls for scaling up interventions and support programs aimed at addressing environmental and societal challenges faced by caregivers, in addition to thorough exploration of caregiver QoL through qualitative study designs.

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20. Tan ZV, Vivekanandarajah S, Ohlsen J, Cruickshank B, So L. Using the ‘F-words’ to adopt a holistic and child rights promoting approach in developmental assessment clinics in Sydney: a quality improvement study. BMJ Paediatr Open. 2025; 9(1).

BACKGROUND: The way childhood disability is understood and represented in various domains is evolving. The ‘F-words for Child Development’, derived from The International Classification of Functioning, Disability and Health, is a framework that is gaining increasing prominence. This paper reports on a quality improvement project in South Western Sydney, designed to encourage a more holistic, strengths-based approach to assessment, formulation and documentation in a child developmental assessment service. We implemented the ‘F-words’ framework (Function, Family, Fitness, Fun and Friends) into routine clinical practice. METHODS: The framework was incorporated into standardised clinic proformas, and regular team education and awareness building activities were conducted. We audited clinical reports pre-intervention and post-intervention to assess how well the ‘F-words’ framework was incorporated. We also assessed clinician and family perspectives and experiences with this tool using electronic surveys. Thematic analysis was performed on the open text responses. RESULTS: An audit was conducted on 88 reports completed pre-intervention and 112 reports post-intervention. There was an improvement in the reporting of strengths post-intervention. 95% (n=106) of reports clearly documented the child’s strengths at the start of the report compared with 74% (n=65) pre-intervention and 85% (n=95) documented at least 4 of the 5 F-words domains, compared with 8% (n=7) pre-intervention. Multidisciplinary clinicians (n=21) and families (n=18) responded to the electronic surveys. The ‘F-words’ framework was very well received, with most clinicians and families finding it an effective, easy and helpful tool for enhancing clinical assessment, presenting a balanced, non-deficit focused reflection of the child, broadening understanding of the child’s strengths and empowering families by fostering a more collaborative approach. None of the respondents rated the tool as unhelpful, although a minority were undecided. CONCLUSION: The ‘F-words’ framework can be easily incorporated into clinical practice. Clinicians and families engaged with the service were positive about this approach.

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21. Wu R, Li X, He Z, Meng Z, Liang L, Tang W. Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome. BMC Pediatr. 2025; 25(1): 769.

BACKGROUND: Pathogenic heterozygous variants in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been recently identified as the major cause of familial infantile convulsion and choreoathetosis syndrome (OMIM#602,066), a spectrum of autosomal dominant paroxysmal neurological disorders, including self-limited infantile epilepsy (SeLIE) and infantile convulsion that can be isolated (IC) or associated with paroxysmal kinesigenic dyskinesia (PKD/IC). Incomplete penetrance of PRRT2 variants and variable phenotypes without developmental impairment have been widely reported in previous studies of this syndrome, but no studies to date have documented global development delay (GDD) with growth retardation (GR) occurred in a family with multiple phenotypes of this syndrome. CASE PRESENTATION: Here, using family-based whole-exome sequencing, we identified a pathogenic heterozygous PRRT2 variant (NM_145239.3: c.718C > T, p.Arg240*) in a 3-generation Chinese family of infantile convulsion and choreoathetosis syndrome. The variant was detected in five family members, of which two (pedigree III.1 and III.3) were diagnosed with PKD/IC, one (pedigree III.2) presented uncontrolled generalized/focal seizures with GDD and GR; the GR of this patient was aggravated with the progression of the epileptic condition; she was then diagnosed with IC and developmental impairment, one (pedigree II.2) was diagnosed with SeLIE, and one (pedigree II.3) was phenotypically unaffected and recognized as an obligate carrier. CONCLUSIONS: In conclusion, we reported a PRRT2-related syndrome family harboring multiple phenotypic features, including uncontrolled seizures with developmental impairment, which may potentially expand PRRT2-related clinical spectrum. Moreover, our findings suggest that children with PRRT2-related seizures/convulsions, especially those who suffer from uncontrolled multiple seizure types, should be aware of potential risks of having developmental impairment aggravation and need timely and effective antiepileptic medications.

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22. Xian C, Luo Q, Li W, Zou L, Liu J. ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish. J Transl Med. 2025; 23(1): 1054.

BACKGROUND: The ATP synthase F1 subunit α (ATP5F1A) gene encodes a critical structural subunit of mitochondrial complex V. ATP5F1A mutations are linked to mitochondrial complex V deficiency diseases. Although only 14 cases have been reported globally, the genotype-phenotype correlations and underlying molecular mechanisms remain poorly understood. OBJECTIVE: To investigate the pathogenic mechanisms of ATP5F1A deficiency through functional analysis of a recurrent missense variant. METHOD: A Han Chinese family with developmental delay and motor dysfunction was studied. Whole-exome sequencing and trio analysis identified the causative variant. Pathogenicity was evaluated using bioinformatic predictions and structural modeling. HEK293T cells were transfected with wild-type or mutant-type ATP5F1A plasmids for Western blot and immunofluorescence analysis. Morpholino (MO) oligonucleotides were microinjected into zebrafish embryos for gene knockdown. Motor neuron development was observed in Tg(mnx1:eGFP) zebrafish, with accompanying behavioral assessments. RNA sequencing was conducted to explore the underlying molecular pathways. RESULTS: A de novo missense variant (c.1252G > A, p.Gly418Arg) in ATP5F1A was identified and shown to segregate with the disease phenotype. The mutation reduced protein stability and expression. In HEK293T cells, the mutant protein exhibited reduced expression without affecting mitochondrial localization. In zebrafish, atp5fa1 knockdown caused growth retardation, motor dysfunction, and impaired motor neuron axon development. Rescue experiments with human wild-type ATP5F1A mRNA partially restored motor neuron morphology. Transcriptomic analysis identified 2,261 differentially expressed genes, enriched in neurotransmission and apelin signaling pathways. qPCR confirmed downregulation of autophagy-related genes (apln, becn1, map1lc3b) in knockdown larvae. Western blot showed that atp5fa1 knockdown increased P62 and decreased Lc3b-II expression in zebrafish models. CONCLUSION: This study is the first to report pathogenic ATP5F1A mutations in the Chinese population. Atp5fa1 dysfunction leads to multi-system defects and disease phenotypes in a zebrafish model, possibly mediated through inhibiting autophagy activation mechanisms.

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23. Xian P, Wang M, Xie R, Ma H, Zheng W, Kang J, Chen Y, Liu H, Dong S, Liu H, Zhang W, Mao H, Wang F, Yang N, Yu J, Zhao N, Wang Y, Wu S. Mitochondrial dysfunction reveals H(2)S-mediated synaptic sulfhydration as a potential mechanism for autism-associated social defects. Cell Metab. 2025; 37(10): 2076-92.e8.

Clinical studies have identified multiple mitochondrial disturbances in the peripheral tissues of patients with autism. However, how neuronal metabolism contributes to the autism-associated phenotype remains unclear. In this study, we focused on the anterior cingulate cortex (ACC) and reported hydrogen sulfide (H(2)S) elevation as a common outcome to mitochondrial dysfunction in Shank3b(-/-) and Fmr1(-/y) neurons. Cystathionine β-synthase overexpression in ACC impaired synaptic transmission and social function in wild-type mice, while its knockdown effectively rescued synaptic and social defects in both autism mouse models. Dramatic changes in synaptic protein sulfhydration were observed in Shank3b(-/-) ACC, with over-sulfhydration of mGluR5 validated in both models. Ablating mGluR5 sulfhydration partially alleviated social deficits in both strains. Furthermore, sulfur amino acid restriction ameliorated social dysfunction in Shank3b(-/-) and Fmr1(-/y) mice and synaptic defects in corresponding human neurons. Our data indicate that excessive H(2)S and synaptic protein sulfhydration may serve as potential mechanisms underlying the autism-associated social dysfunction.

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24. Yoo J, Park AY, Ko JM. Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients. BMC Med Genomics. 2025; 18(1): 149.

BACKGROUND: Wiedemann-Steiner syndrome (WSS) is a genetic malformation syndrome caused by abnormalities in KMT2A. It is characterized by developmental delays, facial dysmorphism, hypertrichosis, failure to thrive, and musculoskeletal anomalies. Expanded applications of exome sequencing have increased the number of confirmed cases, broadening our understanding of the WSS spectrum. METHODS: We collected and organized the clinical and molecular features of 10 unrelated Korean patients diagnosed with WSS using molecular analysis. Clinical characteristics were presented based on the electronic medical records of the patients’ regular visits. RESULTS: Subject patients consisted of four male and six female patients. The median patient age at diagnosis was 6.76 years. In most cases, the chief complaint upon visiting a clinician was developmental delay (8/10). The most frequently observed phenotypes included failure to thrive (9/10), short stature (7/10), developmental delay (10/10), and hypertrichosis (10/10). The degree of developmental delay varied among the patients. The majority (9/10) were diagnosed by exome sequencing, with the exception of one patient (1/10) who had a microdeletion at 11q23.3, encompassing partial KMT2A, as diagnosed by chromosomal microarray. All patients had private pathogenic or Likely pathogenic variants without any recurrent variants, and nine of the 10 variants were novel. CONCLUSIONS: Most Korean patients with WSS exhibited suggestive features, but most were not pathognomonic of WSS; thus, many patients may only be identifiable by molecular analyses. Phenotypes frequently overlap with other chromatinopathy syndromes. Future studies are needed to determine the genetic background of patients with molecularly unresolved WSS and to further delineate WSS.

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