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. Dai Y, Zou E, Ji Y, Chen X, Chen M, Chen K, Huang B, Xu M, Guo Q, Cai M, Deng T, Wei Y, Liu S, Zhang L. A nurse-led parental self-efficacy promotion program in parents of children with autism spectrum disorder: a quasi-experimental protocol. Front Psychiatry. 2025; 16: 1411518.

PURPOSE: Parents of children with autism spectrum disorder (ASD) often lack the knowledge and confidence to implement early intervention. This study will evaluate the effects of a parental self-efficacy promotion program on parenting self-efficacy, parenting stress, intervention compliance, and family quality of life for parents of children with ASD. DESIGN AND METHODS: This two-arm, pretest, post-test quasi-experimental study recruits 80 parents in one tertiary hospital in China. The control group receives routine care, and the intervention group receives a 1-month self-efficacy promotion program on the basis of usual care. This program consists of one face-to-face session and three online sessions, supplemented by a written pamphlet. Content includes goal setting, experience sharing, verbal encouragement, and mobilizing of positive emotions. CONCLUSION: This study will empower the nurses as leaders to promote the well-being of parents of children with ASD and improve the early family intervention for their child by providing a parental self-efficacy promotion program. PRACTICE IMPLICATIONS: Parents need support to implement intervention in the family for their child with ASD. A nurse-led program targeted at improving parental self-efficacy is worth considering.

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3. Dalwai SH, Multani KS, Sookhadwala H. Autism spectrum disorder: An Indian perspective. Med J Armed Forces India. 2025; 81(5): 501-5.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition marked by challenges in social communication and restricted behaviors. While global prevalence continues to rise, low- and middle-income countries like India face unique challenges due to cultural, geographic, and resource-related disparities. Despite increased awareness and policy support such as the Rights of Persons with Disabilities Act (RPWD), gaps persist in early diagnosis, evidence-based interventions, and culturally appropriate care. Existing models, largely adapted from Western practices, often fail to address the socio-cultural realities of Indian families. The New Horizons Developmental Program (NHDP) proposes a paradigm shift-a caregiver-mediated, developmental, and culturally responsive model grounded in developmental principles. This developmentally informed, family- and community-centered approach offers a scalable model for transforming autism care across diverse Indian contexts. India’s autism care requires a dual-focus strategy that redefines therapeutic priorities and broadens access to autism services. Traditional therapies often miss core developmental deficits, limiting outcomes. The NHDP model offers a holistic, culturally grounded framework that empowers caregivers and integrates disciplines. Scaling such models via digital platforms and grassroot training within existing public health systems can create a sustainable ecosystem where early childhood development is a national priority.

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4. Gardinal M, Fiebrantz A, Viana MO, Rodacki ALF, Pavão SL. Dynamic Postural Control in Children with Autism Spectrum Disorder: A Systematic Review. Phys Occup Ther Pediatr. 2025: 1-32.

Dynamic postural control provides functioning, independence, and quality of life. OBJECTIVE: to estimate the extent to which dynamic postural control (O) is affected in children with ASD (P/E) in comparison to their typically developing peers (C), summarizing the findings and answering the following research question: How is the postural control of children with ASD affected when facing dynamic tasks? METHODS: The search was conducted using the following databases: PubMed, Web of Science, SCOPUS, EMBASE. Studies addressing the postural control involving dynamic stability in children and adolescents with ASD and their typical peers were selected. RESULTS: Thirteen studies, published between 2005 and 2024, eight of which presented good methodological quality and five, fair ones, fulfilled the inclusion/exclusion criteria. We determined that dynamic postural control in ASD is affected by neuromotor deficits, such as reduced postural stability. Increased vulnerability to changes in body alignment and center of pressure results in compensatory movements to maintain posture. CONCLUSION: Children with ASD present impaired dynamic postural control, reduced stability, greater vulnerability to changes in body alignment, and the use of specific compensatory mechanisms to keep posture and avoid falls. Further studies should address the impact of sensory information, age, cognition, and support level on dynamic postural control.

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5. Kangarani-Farahani M, Zwicker JG. White matter changes with rehabilitation in children with Co-occurring autism spectrum disorder and developmental coordination disorder. Neuroimage Rep. 2025; 5(3): 100272.

PURPOSE: Up to 88 % of children with autism spectrum disorder (ASD) experience motor difficulties consistent with developmental coordination disorder (DCD). Cognitive Orientation to daily Occupational Performance (CO-OP) intervention is effective for children with co-occurring ASD and DCD to learn motor skills, but it is unknown if treatment-induced brain changes occur in this clinical population. Our objectives were to: (1) investigate changes in white matter microstructure in children with ASD + DCD after CO-OP intervention; (2) determine whether these brain changes are maintained three months after intervention; and (3) explore the relationship of white matter changes with improvements in motor function. METHODS: In this quasi-experimental study, 24 children with ASD + DCD (aged 8-12 years) underwent an initial MRI and were randomly assigned to either a treatment or waitlist group. The treatment group received CO-OP intervention (once weekly for 10 weeks), had a second MRI post-intervention, and a follow-up scan three months later. The waitlist group waited three months for their second MRI, received the intervention, and then had a post-treatment scan. Diffusion tensor imaging data were analyzed using tract-based spatial statistics. RESULTS: Children with ASD + DCD showed increased fractional anisotropy in cerebellar white matter in vermal lobule VI and middle cerebellar peduncle after CO-OP (Cohen’s d = 0.88 and 0.85, respectively). Brain changes were maintained three months post-intervention. Regression analysis found no relationship between white matter changes and motor outcomes. CONCLUSIONS: Improvements in cerebellar white matter pathways in children with ASD + DCD highlight the efficacy of CO-OP interventions as a therapeutic approach for this clinical population. CLINICAL TRIALS REGISTRATION: ClinicalTrials.gov ID: NCT04119492.

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6. Kobinia GS, Bukaty A, Holly E, Kobinia G, Heuberer PR, Laky B. Intrathecal injection of bone marrow concentrate in children with autism spectrum disorder: a retrospective chart analysis. Front Med (Lausanne). 2025; 12: 1666486.

BACKGROUND: The growing prevalence of autism spectrum disorder (ASD) underscores the urgent need for therapies that target underlying biological mechanisms, with cell-based interventions offering a potentially transformative approach by targeting core physiological disruptions rather than providing temporary symptom management. The purpose of this study was to report on our experience with an autologous cell-based intervention in children with ASD. METHODS: This retrospective data analysis included pre- and postinterventional data from 128 children with ASD who received intrathecal injections of autologous bone marrow concentrate. Patient and procedure related characteristics, complications, and the Autism Treatment Evaluation Checklist (ATEC) scores were extracted from patient’s medical records. RESULTS: Data were analyzed from 128 children (27 females and 101 males), aged between two and 16 years at their first intervention. A total of 32.8% underwent more than two single-step procedures. Significant improvements from the first to the second intervention were detected in the total and all subgroup ATEC scores, as well as in the severity groups (p < 0.001). Following the intervention, 4.6% of children transitioned from the "mild" or "moderate" to the "no symptoms" category, and 25.4% of the initially categorized "severe" group shifted to a milder symptom category. The average total ATEC score improved from the first to the second intervention by 19.0 ± 17.1 points, and one 60-point improvement was detected. The recorded ATEC score improvements in 85.9% of patients were similar between genders, as well as between age groups. A subgroup analysis of 39 patients who received three interventions also showed statistically significant differences in all ATEC scores between the three time points (p < 0.001). The highest improvements occurred after the first intervention, continued to improve over time, and remained reduced even three to four years after the intervention. There was not a single serious adverse event in the 307 treatments. All complications (e.g., nausea/vomiting) were resolved within a week or less after the procedure. CONCLUSION: Both a significant improvement in ATEC scores, and significant severity shifts to milder forms-even into the "no symptoms" category-suggest a measurable improvement in autism-related symptoms after autologous, bone marrow derived, intrathecally applied single procedures in children with ASD.

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7. Koops I, Duckett P, Gerace A. Investigating the Outcomes and Quality of Support Programs for Autistic Young Adults in Higher Education: A Systematic Review. Autism Adulthood. 2025; 7(4): 403-20.

BACKGROUND: Participation rates for autistic young adults in higher education are increasing. However, academic outcomes and retention are lower than for neurotypical peers, and mental health and well-being concerns exist for these young people. Universities and colleges must provide inclusive supports that consider the needs of autistic young people and reflect neurodiverse affirming approaches. Our systematic review examined empirical studies of support initiatives for autistic young adults in higher education. We considered initiatives’ impact in enhancing psychological well-being, academic achievement and retention, and the extent to which programs were coproduced and informed by an understanding of autistic culture and individual experiences. METHODS: Our review followed the Preferred Reporting Items for Systematic Reviews and Meta-analysis standards of systematic review. Studies conducted between 2013 and 2023 that investigated programs for autistic young adults in university and examined psychological well-being, academic achievement, or retention were eligible for inclusion. Sixteen studies met the inclusion criteria. We critically appraised those studies using the Joanna Briggs Institute tool and assessed the support initiatives for quality following the Australasian Society for Autism Research criteria. RESULTS: The most prevalent support programs for autistic young adults in higher education were mentoring initiatives. Multimodal interventions adopted a psychosocial focus, with primary aims of developing social, organizational, and empathic listening skills. Participants in mentoring programs demonstrated increases in well-being and academic outcomes, including participants’ feelings of connection, belonging, and academic self-efficacy. Multimodal interventions showed reductions in areas such as anxiety and loneliness, and improvements in self-esteem. CONCLUSION: The support programs we identified in this review demonstrated positive effects for autistic young people’s well-being, academic achievement, and retention. Mentoring interventions were beneficial and focused on individual strengths, interests, and challenges of autistic individuals. Our recommendation for future research and support initiatives is to tailor programs to the individual needs of autistic university students, using codesign principles and focusing on environmental and systemic changes to enhance their full participation in higher education. Community Brief Why was this review done? More autistic young adults are going to university. However, they often face learning and social difficulties while there. They also report decreased well-being and may be at risk of dropping out of their studies. We wanted to identify which university support programs enhance the well-being and academic success of autistic individuals and which do not. What was the purpose of the review? Our review aimed to systematically gather and assess studies that describe support programs offered to autistic students. We wanted to see how much these programs help students and whether current support programs genuinely enhance students’ well-being and academic success. What did the researchers do? We looked for studies that evaluated support programs for young adults aged 18–25 who were either currently at university or had recently graduated. We sought to understand how those programs enhanced students’ well-being, academic success, and retention. We also evaluated the different types of programs available, looking at how much autistic individuals were involved in designing those programs and how well those programs addressed the unique needs and experiences of autistic young people. We summarized the findings of the different studies in narrative form. What were the results of the review? Many support programs continue to focus on changing the behavior of autistic individuals. These practices try to “fix” the person rather than the place. However, support programs informed by the neurodiversity paradigm are starting to appear and are helping to push for positive change. Most of the multimodal support methods we investigated used the same approach for everyone, focusing on what autistic people couldn’t do well. Right now, the evidence suggests that the best way for universities to provide personalized support, which builds on the strengths and needs of autistic young adults, is with mentoring programs. What do the findings add to what was already known? Our systematic review brings together the results of several recent studies that seek to show how young autistic people can be best supported at university. The support programs we reviewed looked at improving wellbeing, grades, and retention. Our review suggests that there is a growing change in how people approach this topic. Instead of focusing on what autistic students cannot do, newer methods are starting to respect and support autistic strengths and differences. Autistic people are helping to create these new approaches. We found mentoring programs had the biggest impact on wellbeing and academic success, with autistic students reporting feelings of connection and increased confidence in their academic abilities. What are the potential weaknesses of this review? We examined different types of studies which made it difficult to combine the results. These studies did not include a range of different autistic experiences such as those from different cultural and gender groups or those with additional disabilities. We could not fully explore larger issues such as educational policies and higher education funding. How will these findings help autistic adults now or in the future? Our research will help universities create more suitable support programs for autistic young adults. We suggest ways to assess these programs, making sure they are codeveloped with the autistic community, and consider the unique needs and experiences of autistic students. eng.

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8. Kranz D, Braverman Y, McCarthy M, Mackay C, Sabol K, Benke TA, Lieberman D, Marsh ED, Neul JL, Peck F, Percy AK, Saby J, Kopell N, Nelson CA, Levin AR, Fagiolini M. Altered oscillatory coupling reflects possible inhibitory interneuron dysfunction in Rett syndrome. medRxiv. 2025.

Rett syndrome is a rare neurodevelopmental disorder caused primarily by pathogenic variants in the MECP2 gene, leading to lifelong cognitive impairments. To understand the broad neural disruptions in Rett syndrome, it is essential to examine large-scale brain dynamics at the level of neural oscillations. Phase-amplitude coupling, a form of cross-frequency interaction that supports information integration across temporal and spatial scales, is a promising candidate measure for capturing such widespread neural dysfunction. Phase-amplitude coupling depends on the coordinated activity of specific neuronal subtypes, and while multiple subtypes are implicated in different aspects of the Rett syndrome phenotype, their role in shaping large-scale oscillatory dynamics in Rett syndrome is not well understood. To investigate this, we utilized a multi-level approach, combining EEG recordings with computational modeling to identify alterations in phase-amplitude coupling in Rett syndrome and probe their underlying cellular and circuit-level mechanisms. We recorded resting-state EEG from 38 individuals with Rett syndrome and 30 age- and sex-matched typically developing individuals. Phase-amplitude coupling was quantified: modulation index was obtained to determine coupling strength, and phase bias was assessed to examine the preferred phase of coupling. We characterized phase-amplitude coupling across all low and high frequency combinations and electrodes, as well as within canonical theta-gamma and alpha-gamma frequency pairs across four predefined cortical regions. Finally, we modeled a biophysically-constrained Layer 4 cortical network to propose a possible mechanism underlying changes to oscillatory dynamics. We found significantly stronger phase-amplitude coupling in Rett syndrome across widespread cortical regions and frequency pairs, with a pronounced increase in theta-gamma and alpha-gamma coupling in anterior, posterior, and whole-brain regions (P < 0.05). Individuals with Rett syndrome also exhibited a more positive alpha-gamma phase bias in anterior and whole-brain regions (P < 0.05). Biophysically constrained modelling demonstrated that reduced VIP-expressing interneuron activity alone could recapitulate the pattern of increased theta-gamma and alpha-gamma phase-amplitude coupling observed in Rett syndrome (P < 0.001). These findings identify alterations in awake-state phase-amplitude coupling in Rett syndrome and propose a mechanistic link to VIP+ interneuron dysfunction. Elevated phase-amplitude coupling may serve as a promising biomarker of cortical dysfunction and a translational bridge from neural circuitry to clinically observable EEG signatures. By implicating VIP+ interneurons, our results open new avenues for testing interventions in preclinical models to identify potential novel therapeutic targets for individuals with Rett syndrome.

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9. Lavell CH, Oar EL, Rapee RM. Adolescent body dysmorphic disorder: Insight, executive function, and rates of ADHD and Autistic traits. J Psychiatr Res. 2025; 191: 393-401.

Body dysmorphic disorder (BDD) affects approximately 1 % of adolescents. Little is known about the disorder in youth and many young people do not respond to current treatments. The limited research to date suggests poor insight, executive functioning differences, and an increased likelihood of co-occurring Autism and attention-deficit/hyperactivity disorder (ADHD) may be associated with BDD in adolescents. In the current study, 26 adolescents with BDD aged 12 to 17 were compared to a clinical control group of 27 adolescents with anxiety disorders and 25 adolescents without mental disorders on insight, executive functioning, and rates of ADHD and Autism traits. Adolescents with BDD had significantly poorer insight compared to anxious adolescents, with 73 % of the BDD sample having poor or delusional insight compared to 11 % of the anxious sample. Although the three groups performed similarly on set-shifting and response inhibition tasks, adolescents with BDD and anxiety disorders were rated by their parents as having significantly more difficulties with shifting, emotional control, task initiation, and overall executive functioning compared to the non-clinical control group. Adolescents with BDD were also rated as having significantly more difficulties with emotional control than adolescents with anxiety disorders. Most (96 %) of the BDD sample had Autistic traits and 39 % met criteria for ADHD. Further research is needed to understand the impact of insight, executive function and co-occurring Autism and ADHD on treatment engagement and outcomes in adolescents with BDD.

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10. 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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11. 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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12. Lin J, Santos J, Gonçalves CL. Behavioral approach to autism spectrum disorder: quality versus quantity in interventions. J Pediatr (Rio J). 2025; 102 Suppl 1: 101451.

OBJECTIVE: To discuss the importance of balancing quality versus quantity in behavioral interventions for individuals with Autism Spectrum Disorder (ASD), highlighting evidence-based approaches and the role of therapist training. DATA SOURCES: Narrative review of the literature examining evidence-based behavioral approaches for ASD, the tension between intervention intensity and quality, factors influencing individualized treatment planning, and the importance of professional qualification. SUMMARY OF FINDINGS: Evidence indicates that more hours of therapy do not necessarily result in better outcomes, with studies showing no consistent dose-response relationship. Individual learning rates, comorbid conditions, and quality of implementation significantly influence results. High-quality, individualized planning, consistent execution, family engagement, and well-trained professionals are essential. Lack of regulation and standardized training, particularly in contexts without professional certification systems, poses challenges to delivering effective, evidence-based care. CONCLUSION: Behavioral interventions for ASD must prioritize quality over quantity, ensuring evidence-based, individualized, and well-supervised treatment plans delivered by qualified professionals to achieve meaningful outcomes.

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13. Long Y, Luo Y, Han J, Zheng Q, Kang X, Wang Q, Lei Z, Tang R, Zhang T. Improving Peer Interactions and Social Skills in Preschool Children With Autism Using Pivotal Response Treatment. J Autism Dev Disord. 2025.

PURPOSE: Pivotal Response Treatment (PRT) is a naturalistic, child-led behavioral intervention grounded in applied behavior analysis that targets motivational « pivots » to promote generalized social communication. Peer interaction is a core difficulty for many preschoolers with autism spectrum disorder (ASD), yet evidence from randomized designs in group-based settings remains limited. METHODS: In a randomized controlled trial, 30 preschool children with mild to moderate ASD were assigned to either the PRT group (n = 15) or a treatment-as-usual (TAU) group (n = 15). The PRT group received 24 sessions over 8 weeks, comprising 30 min, play-based interventions administered three times per week. Target behaviors were embedded in five structured games. Outcomes were assessed via a mixed experimental design, combining single-subject (A-B-A) and pretest-posttest group comparisons. Standardized measures included the Peer Interaction Skills Scale, Social Responsiveness Scale, Childhood Autism Rating Scale, and Autism Behavior Checklist. RESULTS: Children in the PRT group were found to show significant improvements in peer interaction skills, including increased social initiation and prosocial behavior. They also appeared to demonstrate reductions in core autism symptoms and gains in adaptive functioning, with improvements largely maintained post-intervention. In contrast, the TAU group tended to exhibit minimal changes across most outcomes. CONCLUSION: Even though the findings can be explained by causes other than the treatment, the findings are consistent with the hypothesis that PRT enhanced children’s within-game target behavior and more generalized social and adaptive behavior. The findings encourage future studies that address particular flaws in the current study to test this hypothesis.

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14. Lopes LPN, Boeira LDS, Figueiredo Modesto AC, Ramos-Silva A, Menin VP, Abe FC, Lopes LC. Barriers to mental health services for children and adolescents with autism spectrum disorder in Brazil: protocol for a qualitative evidence synthesis and citizen panel (BARRIER-Free-BR Project). BMJ Open. 2025; 15(10): e107543.

INTRODUCTION: The perspectives of stakeholders directly affected by mental health services for autism spectrum disorder (ASD) are essential for the quality of these services. However, it is crucial that these perspectives are informed by the best available evidence and adapted to the local context. This study aims to analyse barriers related to mental health services for children and adolescents with ASD from the perspective of families and caregivers, considering social, racial and gender aspects. METHODS: Three steps will be taken: stakeholder engagement through an online meeting to refine the research question and understand the magnitude of the problem; (b) qualitative evidence synthesis using five databases and grey literature to identify studies that have collected and analysed qualitative data on barriers to mental health services for children and adolescents with ASD in Brazil. Only studies conducted in Brazil that consider the perspectives of family members and caregivers will be included. (c) A citizen panel with families of children and adolescents with ASD will be used to discuss and validate the synthesis findings. ETHICS AND DISSEMINATION: We will provide a set of evidence-informed and stakeholder-experienced barriers to mental health services for children with ASD in Brazil. This represents an effort to engage stakeholders in evidence descriptions to inform policy. We plan to disseminate the findings through various means, including peer-reviewed journal publications, presentations at national conferences, invited workshops and webinars, patient associations and academic social media platforms. The project was approved by the Ethics Committee for Research at the University of Sorocaba (approval number 78747224.7.0000.5500). TRIAL REGISTRATION NUMBER: Open Science Framework-10.17605/OSF.IO/DVAKG.

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15. McKinney WS, Corsmeier A, Dapore A, Gross C, Dominick KC, Erickson CA, Schmitt LM. Beyond the Fragile X protein: neighborhood characteristics explain individual differences in IQ and adaptive behaviors of Fragile X syndrome. Front Psychiatry. 2025; 16: 1636987.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is caused by reduced or absent Fragile X messenger ribonucleoprotein (FMRP). Cognitive and adaptive skills widely vary among individuals with FXS, and these individual phenotypic differences are not fully accounted for by individual differences in FMRP expression. Social-environmental factors, including social determinants of health, may help further explain these individual differences, but these environmental factors have been under-studied in FXS. METHODS: 175 participants with FXS (123 males; age range: 4-72 years) completed the Stanford-Binet, Fifth Edition to estimate IQ and a blood draw to quantify peripheral FMRP levels. Caregivers from a subset of participants also completed the Vineland Adaptive Behavior Scales. Neighborhood-level social-environmental information was extracted by linking participants’ home addresses to rankings of neighborhood resources (e.g., household income, pollution, healthcare access) from the Child Opportunity Index (COI). We calculated the unique variance in IQ and adaptive behaviors accounted for by these neighborhood-level social-environmental factors from the COI while covarying for FMRP expression. RESULTS: Even after accounting for individual differences in FMRP, numerous neighborhood factors were associated with greater IQ in males with FXS, including social resources and indicators of healthcare access. Different social-environment factors were associated with stronger adaptive skills in males with FXS, including economic and educational resources. Almost no neighborhood factors were associated with clinical outcomes in females. DISCUSSION: Our finding of stronger links between neighborhood resources and clinical outcomes in males with FXS is consistent with previous work and may reflect increased reliance on social-environmental supports in males who typically have more significant intellectual and adaptive deficits than females. Consistent associations between greater social resources, higher IQ, and stronger adaptive skills suggest social support (e.g., social cohesion, resource and knowledge sharing) may be a particularly salient target for intervention. Associations between economic resources and adaptive communication skills also highlight the benefits of targeted economic supports for families affected by FXS. Together, our findings underscore the role of social determinants of health as key contributors to individual differences and the importance of considering these factors in clinical studies of FXS.

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16. Mengarelli F, Cordone V, Pecorelli A, Benedusi M, Valacchi G, Morresi C, Bacchetti T, Orlando P, Tiano L, Silvestri S. MITOCHONDRIAL REDOX IMBALANCE AND CoQ(10) DEFICIENCY IN RETT SYNDROME: INSIGHTS FROM PATIENT-DERIVED FIBROBLASTS. Arch Biochem Biophys. 2025: 110636.

Rett syndrome (RTT), a neurodevelopmental disorder primarily affecting females, is characterized by mutations in the MECP2 gene, leading to systemic oxidative stress and mitochondrial dysfunction. This study investigates the role of Coenzyme Q(10) (CoQ(10)), particularly its reduced form ubiquinol, in modulating oxidative stress and mitochondrial function in primary dermal fibroblasts derived from RTT patients with distinct MeCP2 mutations. Baseline assessments revealed significant CoQ(10) deficiencies and elevated reactive oxygen species (ROS) levels, notably in fibroblasts with the T158M mutation. Ubiquinol supplementation effectively restored CoQ(10) levels and improved redox balance in these cells. Additionally, treatment influenced mitochondrial dynamics, as evidenced by alterations in the expression of fission and fusion proteins and modulated the activity of paraoxonase 2 (PON2), an enzyme involved in cellular antioxidant defense. In conclusion, our data suggest that CoQ(10) supplementation could mitigate oxidative damage and preserve mitochondrial integrity, but we are far from being able to claim that it can represents an effective therapeutic strategy to complement current pharmacological treatments in RTT patients. Further research is warranted to explore the potential of CoQ(10) as an adjunctive treatment, particularly during the early stages of RTT.

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17. 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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18. 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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19. Proteau-Lemieux M, Knoth IS, Davoudi S, Martin CO, Bélanger AM, Fontaine VK, Biag HMB, Abbeduto LJ, Jacquemont S, Hessl D, Hagerman RJ, Schneider A, Bolduc FV, Lippé S. Associations Between Altered Auditory EEG Markers and Clinical Impairments in Fragile X Syndrome. J Autism Dev Disord. 2025.

PURPOSE: Individuals with Fragile X syndrome (FXS) manifest clinical impairments in several domains. Previous research has shown that auditory evoked potentials (AEPs), measured using electroencephalogram (EEG), are altered in FXS, but the associations between these alterations and the symptoms observed in FXS have not been thoroughly investigated. The aim of this study was to compare AEP markers between individuals with FXS and neurotypical (NT) controls, with the main purpose of exploring how these markers are related to various clinical symptoms present in FXS. METHODS: A passive auditory oddball paradigm was presented. P1, N1, P2, N2, P3 and mismatch negativity (MMN) amplitudes and latencies were compared between 41 children and adults with FXS and 46 age-matched NT controls. Amplitudes and latencies, as well as habituation and change detection effects were compared between the groups using mixed design ANOVAs. Pearson correlations were then performed to explore associations between AEP markers and symptoms in the FXS group. RESULTS: Our results showed that FXS participants had increased N1, P2 and MMN amplitudes and latencies, as well as lack of habituation and change detection effects compared to NT controls. Our correlational analyses revealed several associations between AEPs and phenotypic manifestations; notably, associations between exaggerated N1 and P2 amplitudes and more severe autistic and ADHD symptoms. CONCLUSIONS: These findings confirm that abnormalities of the N1 and P2 components are robust biomarkers of altered sensory processing in FXS and suggest that these alterations may present a dose-response relation to clinical impairments in FXS.

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20. Romstein K, Habek D, Velki T, Košuta Petrović M. PRENATAL AND OBSTETRIC RISK FACTORS FOR DEVELOPMENT OF DISABILITIES IN CHILDHOOD. Acta Clin Croat. 2024; 63(3-4): 670-7.

The main objective was to analyze prenatal and obstetric risk factors in relation to the development of disabilities. For that purpose, data on medication, i.e., use of benzodiazepines during pregnancy, gestational weeks, mode of delivery (vaginal or cesarean section), duration of delivery, and fetal presentation were retrieved from medical records and semi-structured interviews with mothers/legal guardians. Trained professionals clinically assessed the children’s developmental status (N=107). Fisher exact test with post hoc analysis of standardized residuals showed that a statistically significant number of children with multiple disabilities were born by cesarean section (z=3.7, p<0.001), prematurely (z=4.8, p<0.001), and by mothers using benzodiazepines (z=2.6, p<0.01). Children with autism spectrum disorders were more often delivered post-term (z=2.0, p<0.05) by induced delivery (z=2.9, p<0.01). Children with developmental coordination disorder were more often born post-term (z=2.2, p<0.05). As for the duration of delivery and fetal presentation, there was no statistically significant correlation with developmental disabilities. There is a cumulative risk of developmental disabilities rather than just a single risk factor. More interdisciplinary and longitudinal research on developmental disabilities, including children's educational outcomes should be conducted.

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21. 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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22. Suprunowicz M, Wińska A, Oracz AJ, Modzelewski S, Konarzewska B, Waszkiewicz N. The role of neurotrophins in sensory processing in autism. Neuroscience. 2025; 587: 90-7.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by a wide range of symptoms, including altered sensory processing. Impaired perception and interpretation of sensory stimuli may result from abnormal neuroplasticity and disruptions in neurotrophin signaling. These phenomena play a crucial role in neuronal development and function. Elevated serum levels of brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF) have been reported in individuals with ASD, while concentrations of neurotrophin-3 (NT-3) and neurotrophin-4/5 (NT-4/5) appear unchanged. However, extant research has not yet examined the relationship between neurotrophin levels and sensory integration deficits, thus indicating a significant gap in the current body of knowledge. The heterogeneity of ASD, encompassing a broad spectrum of symptoms and neuroanatomical alterations, complicates the search for universal biomarkers. Consequently, an analysis of neurotrophin concentrations in relation to specific sensory disturbances and their severity may offer valuable insights. Modulation of neurotrophin signaling has emerged as a promising therapeutic avenue; however, its effectiveness in ASD remains unclear. A paucity of studies has evaluated the potential of neurotrophins as biomarkers for diagnosis or treatment monitoring. Nevertheless, recent advances in biotechnology-including gene therapy, pharmacological agents that enhance neurotrophin release, and non-invasive brain stimulation-offer the prospect of more effective and personalized interventions for ASD. Despite the nascent stage of research in this domain, these approaches hold considerable promise for future autism treatment.

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23. 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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24. 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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25. 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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26. Yoon CD, Dean DC, 3rd. Advanced Quantitative Microstructure Imaging in Autism: A Review of Methodology, Group Differences, and Associations With Developmental Outcomes. Autism Res. 2025.

Emerging evidence highlights widespread alterations in white matter microstructure in autism. Advances in magnetic resonance imaging (MRI) have enabled more precise examinations of these microstructural changes, leading to increased use of quantitative MRI techniques in autism research. This review summarizes the current landscape of these techniques, focusing on methodology, group differences, developmental associations, and regional variations. Following PRISMA guidelines, 34 studies published between 2006 and 2024 that employed advanced MRI techniques were reviewed. These included diffusion MRI signal representations (diffusion kurtosis imaging [DKI] and constrained spherical deconvolution [CSD]) and biophysical models (neurite orientation dispersion and density imaging [NODDI] and white matter tract integrity [WMTI]), as well as relaxometry and magnetization transfer imaging (MTI). CSD and NODDI were the most frequently used, while MTI was the least utilized, with notable variations in acquisition parameters and processing methods across the techniques. Findings suggest relatively consistent lower values of fixel-based analysis measures (CSD) and neurite density index (NODDI) across major white matter regions, while findings from DKI, WMTI, and relaxometry varied. Measures from these techniques were associated with various developmental outcomes, including cognitive, emotional, and social behaviors. Limitations and implications are also discussed.

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27. Zhang T, Wang J, Cao Z, Ma Y, Lv Z. Early muscle hypotonia as a potential marker for autism spectrum disorder: a systematic review. Front Psychiatry. 2025; 16: 1598182.

BACKGROUND: The diagnosis of ASD has increased globally owing to the expansion of diagnostic criteria, increased awareness, and improvement in symptom identification. However, the diagnosis of ASD in young or neurodivergent people remains challenging and requires the investigation of new early indications. OBJECTIVES: In this review, we examined the correlation between early hypotonia (including motor difficulties) and ASD, evaluating the potential of hypotonia as an early biomarker and screening instrument. METHODS: Using the PRISMA criteria (PROSPERO: CRD42024626398), we searched PubMed, Embase, Cochrane Library, and Web of Science without any constraints on date or language. The inclusion criteria were derived from studies on children aged 0-6 years that investigated hypotonia (e.g., motor impairments or head lag) in connection with ASD diagnosis or characteristics. The eligible studies were prospective cohort, case-control, and retrospective video-analysis studies. Two researchers independently collected and evaluated the data. RESULTS: Twenty-four studies (prospective cohort, case-control, or video analyses) were included in this review.The participants were aged 2 months to 6 years and included infant siblings of autistic children (a cohort with elevated likelihood of an autism diagnosis), children with familial ASD, and individuals from the general population.The research showed a consistent association of hypotonia and motor difficulties with ASD, despite variations in assessment methodologies, such as standardized motor measures and clinical evaluations. However, despite methodological heterogeneity, cumulative evidence supported the potential of hypotonia as an early ASD biomarker. CONCLUSION: Hypotonia and related motor differences may serve as practical screening indicators of increased likelihood of a later autism diagnosis. Identifying these signs can prompt earlier referral and support. While the findings are promising, further research is needed to standardize assessment protocols and validate clinical utility. Interdisciplinary collaboration may facilitate early detection, enhancing long-term outcomes through timely assistance. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/myprospero, identifier CRD42024626398.

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