1. Retraction: « Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning ». JMIR Med Inform. 2025; 13: e76833.

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2. Alabdali A, Ben Bacha A, Alonazi M, Al-Ayadhi LY, Alanazi ASJ, El-Ansary A. Comparative evaluation of certain biomarkers emphasizing abnormal GABA inhibitory effect and glutamate excitotoxicity in autism spectrum disorders. Front Psychiatry. 2025; 16: 1562631.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. An imbalance between the excitatory neurotransmitter glutamate and the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) might play a crucial role in ASD. This study explores the biochemical markers associated with GABAergic and glutamatergic signaling in individuals with autism and healthy controls, aiming to identify potential diagnostic and therapeutic targets. METHODS: The study included 46 male individuals with autism and 26 age- and gender-matched healthy controls. The plasma levels of excitatory amino acid transporter 2 (EAAT2), potassium chloride co-transporter 2 (KCC2), Na-K-Cl co-transporter 1 (NKCC1), vitamin D3 (VD3), GABA, gamma aminobutyric acid type a receptor subunit alpha 5 (GABRA5), and glutamate were measured using ELISA. Statistical analyses, including correlation, multiple regression, and receiver operating characteristic (ROC) curve analysis, were performed to evaluate the diagnostic utility and interrelationships of these biomarkers. RESULTS: Significant biochemical differences were found between individuals with autism and healthy controls. Individuals with autism had notably lower levels of EAAT2, KCC2, NKCC1, VD3, GABA, and GABRA5, especially in the severe group. Altered KCC2/NKCC1 and GABA/glutamate ratios highlighted the imbalance in neurotransmission. The correlation and multiple regression analyses showed significant interconnections between biomarkers. The ROC analysis indicated that EAAT2, KCC2, GABA, and the ratios of KCC2/NKCC1 and GABA/glutamate have high diagnostic potential. CONCLUSION: These findings support the hypothesis that GABA and glutamate imbalance is central to the pathophysiology of ASD. Significant disruptions in neurotransmitter signaling and chloride homeostasis, particularly in severe cases, provide insights into the neurobiological mechanisms of ASD. Restoring the GABA-glutamate balance could be an effective therapeutic strategy for ASD, warranting further research into these biochemical pathways for targeted treatments.

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3. Algra H. [When words fail]. Ned Tijdschr Tandheelkd. 2025; 132(5): 226-30.

Patients with a cognitive impairment and/or autism often process information differently from or more slowly than other patients. They may interpret certain words very literally. This requires special attention from the dental care provider for the way in which signals are perceived and information can be shared. The use of language is a pitfall: patients use concepts they do not understand themselves. In addition, it takes them more time to understand intentions. The capabilities of patients are often overestimated. Acknowledging a patient s impairment sometimes literally requires translation during treatment, in which the use of language must be supported by visual aids, such as pictures.

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4. Badura A, Hiekel J, Saladino A, Murature D, Lenells M, Fiander M, Wellmann S, Bruschettini M. Motor interventions initiated prior hospital discharge to prevent neurodevelopmental impairment in preterm infants. Cochrane Database Syst Rev. 2025; 5(5): Cd016170.

This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To assess the benefits and harms of motor interventions initiated prior hospital discharge to prevent neurodevelopmental and motor impairment in preterm infants compared to standard care, post-discharge motor interventions, and different modalities of the same motor intervention.

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5. Cao L, Zhang X, Lou T, Ma J, Wang Z, Kim SJ, Vogt K, Hirano A, Tanaka T, Kikkawa Y, Yanagisawa M, Liu Q. Cdkl5 Knockout Mice Recapitulate Sleep Phenotypes of CDKL5 Deficient Disorder. Int J Mol Sci. 2025; 26(8).

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an X-linked rare neurodevelopmental disorder associated with severe sleep disturbances. However, little is known about the mechanisms underlying sleep disturbances in CDD patients. Here, we employed the electroencephalogram (EEG) recording to characterize sleep-wake behaviors and EEG activity in male CDKL5-deficient mice. We found that young adult and middle-aged Cdkl5 knockout (KO) mice recapitulated sleep phenotypes in patients with CDD, including difficulties in initiating and maintaining sleep, reduction in total sleep time, and frequent night awakenings. Cdkl5 KO mice exhibited pre-sleep arousal, but normal circadian rhythm and homeostatic sleep response. Conditional knockout (cKO) of Cdkl5 in glutamatergic neurons resulted in reduced sleep time and difficulty in sleep maintenance. Further, the rate of age-associated decline in sleep and EEG activity in Cdkl5 KO mice was comparable to that of wild-type littermates. Together, these results confirm a causative role for CDKL5 deficiency in sleep disturbances observed in CDD patients and establish an animal model for translational research of sleep treatment in CDD. Moreover, our results provide valuable information for developing therapeutic strategies and identifying sleep and EEG parameters as potential biomarkers for facilitating preclinical and clinical trials in CDD.

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6. Deng L, Xu M, Hu Y, Liu Y, Chen Z, Tan H, Du W, Xiao Y, Li F. Assessing the Validity and Reliability of the Chinese Vineland Adaptive Behavior Scales for Children With Autism Spectrum Disorder Aged 1-6. Autism Res. 2025.

The Vineland Adaptive Behavior Scales (VABS), a widely used assessment tool for assessing developmental profiles of children, has been adapted to various cultural contexts with proven efficacy. This study evaluated the applicability and efficacy of the Chinese Vineland Adaptive Behavior Scales (CVABS-III) in assessing children with different developmental profiles within the context of Chinese culture. The VABS items were meticulously translated and modified to reflect cultural relevancy. We assessed 2118 Chinese preschoolers aged 1-6 years, including those with typical development (TD; n = 943), and various clinical subgroups including autism spectrum disorder (ASD; n = 449), developmental delay (DD; n = 477), and speech and language developmental delay (SLDD; n = 249). Internal reliability, construct validity, and discriminant validity with the Gesell Developmental Schedules were assessed. The CVABS-III demonstrated excellent internal consistency and construct validity. It effectively distinguished between TD children and those with ASD, DD, or SLDD. It also showed progressively stronger correlations with the Gesell Developmental Schedules especially in children aged 3-6 years. These findings confirm that the CVABS-III retains the robust psychometric properties of its original VABS while being suitably adapted for the Chinese context. This adaptation enhances the scale’s utility for early identification and intervention in developmental delays within diverse Chinese populations. Future research might explore further refinement to improve its applicability across all ages and developmental conditions.

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7. Giaretta NM, Trufeli SP, Alckmin-Carvalho F, Teixeira M. Implementation of M-Chat for Screening of Early Signs of Autism in the Brazilian Health Care System: A Feasibility Study. Nurs Rep. 2025; 15(4).

Background: Although screening for early signs of autism spectrum disorder (ASD) using the Modified Checklist for Autism in Toddlers (M-CHAT) has been recommended by the Brazilian Ministry of Health since 2014, the feasibility of this intervention and its effects in primary care have not been sufficiently investigated. Objectives: (1) to verify the feasibility of implementing the M-CHAT in the Brazilian Unified Health System, through routine childcare vaccination; (2) to evaluate the level of knowledge and practices of nursing professionals in Brazilian primary health care in relation to ASD to check the expertise to apply M-CHAT to verify early signs of this condition; (3) to verify, after implementation, the frequency of children with possible early signs of ASD using the M-CHAT. Methods: This is an observational, cross-sectional study conducted in a medium-sized city in southeastern Brazil. A total of 97 nursing professionals from 21 health facilities participated. The professionals answered a questionnaire on knowledge and practices regarding ASD, attended training on early signs of ASD and for the use of M-CHAT. Finally, they administered the M-CHAT to 267 parents of children aged 16 to 57 months in primary care settings. Results: Insufficient knowledge of ASD was identified among the nursing professionals evaluated. Approximately 80% agreed that the training was satisfactory, and 88% agreed that they felt competent to use the M-CHAT; 74% agreed with the benefits of using the M-CHAT to detect early signs of ASD in public health settings. However, 91% of the professionals reported that incorporating the M-CHAT into the day care routine overloaded their work, and less than 50% agreed that the instrument should continue to be used in the day care routine. Sixty-seven (25.09%) children screened positive for possible early signs of ASD by M-CHAT. Conclusions: The insufficient level of knowledge on ASD found among nursing professionals suggests gaps in Brazilian academic and professional training in this area. Although most participants recognized the importance of early detection of signs of ASD in primary care settings, the implementation of the M-CHAT in the routine primary care settings was not well accepted for most participants due to work overload, which indicates the need for public health policies to offer working conditions that minimize the overload of professionals, maintaining early screening interventions for ASD in Brazilian primary care institutions.

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8. Heston-Mullins J, Primetica B, Bibbo J, Bollin S, Wyrostek L, Barrett D, Williman M, Burman B, Haas A, Scharf L, Huth M, Hudak J, Kinzig E. A Case Study of Aging and Intellectual and Developmental Disability Collaboration in Ohio. Gerontologist. 2025.

BACKGROUND AND OBJECTIVES: Service and research organizations in Ohio collaborated to develop and expand dementia-capable home and community-based service systems, with a focus on individuals living with intellectual and developmental disability and dementia or at risk of dementia through the Administration for Community Living Alzheimer’s Disease Programs Initiative (ADPI). RESEARCH DESIGN AND METHODS: Over a six-year period, three projects engaged over 900 individuals living with dementia and their supports and approximately 3500 service professionals through six education initiatives and three evidence-based interventions. RESULTS: Collaborations between grantees and community partners resulted in relationship-building and knowledge transfer between aging and intellectual and developmental disability service networks, increases in individual dementia and intellectual and developmental disability knowledge and confidence, intellectual and developmental disability-specific adaptations to evidence-based interventions and educational initiatives, and identification of research gaps in the fields of aging and intellectual and developmental disability. DISCUSSION AND IMPLICATIONS: Aging and intellectual and developmental disability professionals now have a better understanding of intellectual and developmental disability and dementia and are more aware of the needs of individuals with life-long disability as they age. Ohio provides a compelling case study of how collaboration and knowledge transfer between the aging and intellectual and developmental disability sectors can build a foundation for innovative practices and policies to address shared challenges and opportunities.

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9. Lambregts-van Marrewijk DJF, de Kuijper M. [Survey special care groups: the outcome]. Ned Tijdschr Tandheelkd. 2025; 132(5): 269-73.

From mid-December 2024 to mid-February 2025, a poll was conducted among the readers of the NTVT to gain insight into their views on the treatment of people with disabilities or autism. 27,2% of all respondents indicated that there are insufficient options to refer people with disabilities or autism for treatment within a 30-minute travel distance. Moreover, many Centers for Special Care Dentistry have a waiting lists or do not take on new patients anymore. The contribution of general practitioners is therefore much needed to organize the necessary care for these special care groups in the Netherlands. The degree of perceived competence appears to be associated with the self-reported treatment of people with a moderate to severe intellectual disability in the general dental practice. Additional training appears to lead to more competence, and therefore possibly to more treatment of these special care groups in the general dental practice.

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10. Lin Y, Chen G, Lu H, Qin R, Jiang J, Tan W, Luo C, Chen M, Huang Q, Huang L, Dong A, Qin J. Inequality and heterogeneity in medical resources for children with autism spectrum disorders: a study in the ethnic minority region of southern China. BMC Public Health. 2025; 25(1): 1677.

BACKGROUND: In recent years, medical interventional treatment for children with autism spectrum disorder (ASD) has been gradually introduced in medical institutions in the Guangxi Zhuang Autonomous Region in southern China. However, the allocation of these medical resources has been uneven. This study describes the spatial allocation of medical resources for children with ASD in Guangxi, evaluates their supply and utilization, and expounds on their correlations with socioeconomic and demographic conditions. METHODS: This study was based on a special survey conducted from 2021 to 2022 by the Guangxi Disabled Rehabilitation Research Center. The number of medical institutions for children with ASD (MIIs), average number of ASD technicians per 10,000 target people (CTPP), and coverage rate of medical interventions (CMI) were set as dependent variables, while population density, proportion of town residents, total retail sales of consumer goods, disposable income per capita gross domestic product per capita (GDPpc), and number of enterprises above designated size were set as independent variables, all of which were included in the spatial statistical model. The main analysis methods was multiscale geographically weighted regression (MGWR). RESULTS: The allocation of MIIs (Moran’s I = 0.119, p = 0.007), CTPP (Moran’s I = 0.208, p = 0.017), and CMI (Moran’s I = 0.251, p = 0.004) in Guangxi showed significant spatial autocorrelation. The medical resources formed high-value hot spots in major districts of core cities, while the medical resources were scarce in some remote ethnic minority counties and densely populated areas in southeastern Guangxi. MIIs showed significant spatial correlations with population density (EV=-0.225, p = 0.001), proportion of town residents (EV = 0.255, p = 0.002), total retail sales of consumer goods (EV = 0.806, p < 0.001), and disposable income per capita (EV=-0.267, p < 0.001). CTPP showed significant correlations with population density (EV = 0.211, p = 0.019), GDPpc (EV = 0.267, p = 0.002), total retail sales of consumer goods (EV = 0.382, p < 0.001), and number of enterprises above designated size (EV=-0.242, p = 0.005). CMI showed a significant association with proportion of town residents (EV = 0.415, p < 0.001), total retail sales of consumer goods (EV = 0.273, p = 0.006), and number of enterprises above designated size (EV=-0.236, p = 0.003). CONCLUSIONS: The spatial allocation of medical resources for children with ASD in Guangxi is heterogeneous, and correlates varyingly with regional socioeconomic conditions as well as urbanization and demographic conditions.

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11. Looi MK. Trump watch: Planned Parenthood sues Trump, autism registry sparks fear, RFK Jr calls for vitamin combination treatments, and more. Bmj. 2025; 389: r916.

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12. Mkhitaryan M, Avetisyan T, Yeritsyan H, Harutyunyan H, Yenkoyan K. Unraveling the Genetic and Environmental Risk Factors of Autism Spectrum Disorder Through a Case-Control Study in Armenia. Health Sci Rep. 2025; 8(5): e70801.

BACKGROUND AND AIMS: Autism spectrum disorder (ASD) is influenced by genetic and environmental factors. This study investigates genetic mutations and prenatal factors associated with ASD, including their interplay, in a multicenter case-control study. METHODS: The study included 297 participants (149 ASD cases, 148 controls). Genetic data were analyzed using Multiplex Ligation-dependent Probe Amplification (MLPA) for ASD-associated chromosomal regions. Environmental data covered prenatal, perinatal, and neonatal factors. Logistic regression and stratified analyses were performed. RESULTS: Significant associations were found between ASD and mutations in 15q11-15q13, 16p11, and 11q13 regions, particularly in SHANK2 and SHANK3. Females with ASD showed higher mutation rates than males. Prenatal factors (e.g., MgB6 use, labor-inducing drugs, maternal stress, pregnancy complications, shorter interpregnancy intervals) exacerbated ASD risk when combined with specific genetic variations. Duphaston use during pregnancy, alongside certain mutations, may influence ASD risk, potentially offering protective effects. CONCLUSION: This study highlights the importance of integrating genetic and environmental factors in ASD research. Findings underscore the need for tailored early interventions, prenatal care advice, and genetic counseling for at-risk families. Future studies should validate these findings in larger, diverse populations and explore underlying mechanisms.

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13. Radoeva PD, Li EA, Legere CH, Saletin JM, Philip NS, Dickstein DP. Estimated Nutrient Intake and Association With Psychiatric and Sleep Problems in Autistic Youth in the Adolescent Brain Cognitive Development(SM) Study. Autism Res. 2025.

Autistic children often consume less varied diets, experience sleep difficulties, and have higher rates of mental health problems as compared to neurotypical peers. Yet, the direct relationship between all of these domains is not well characterized. We leveraged the Adolescent Brain Cognitive Development(SM) study (ABCD study) dataset to explore whether estimated levels of consumption of specific macro- and micronutrients correlated with the severity of mental health and sleep problems in autistic youth. We found that low vitamin B3, B6, C, and iron intake was associated with more severe psychiatric problems in autistic children in the ABCD cohort, though these findings did not reach statistical significance after correction for multiple comparisons. In a post hoc analysis, we found that the severity of sleep difficulties was correlated with estimated levels of Vitamins B3, B6, C, and iron intake and with the severity of anxiety/depressive symptoms and/or thought problems. Our analysis on a large number of nutrients, psychiatric symptoms, and sleep serves as an exploratory, initial analysis to identify specific nutrients and psychiatric symptoms that could be the focus of future (confirmatory) studies on the relationship between nutrition, sleep, and mental health in autistic individuals.

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14. Shi F, He M, Li J, Wang X, Zhang D. Parents’ experience with the management of sleep disorders in children with autism: A qualitative study. Res Dev Disabil. 2025; 162: 105027.

PURPOSE: Sleep disorders are a common co-occurring problem in children with autism, and parents are the main implementers in the process of their management. However, there is a paucity of research on parents’ experiences of managing sleep disorders in children with autism, especially in Asian countries. The aim of this study is to explore the experiences of managing sleep disorders in children with autism in China from a parental perspective. MATERIALS AND METHODS: We used a descriptive qualitative research method to conduct semi-structured interviews with 14 parents of children with both autism and sleep disorders. Data were analysed according to the Colaizzi descriptive analysis framework. RESULTS: Data analysis identified three macrothemes and eight subthemes: (1) sleep management dilemmas: lack of knowledge and skills in sleep disorder management, health professionals do not pay attention to sleep problems; (2) physical and psychological burdens: physical exhaustion, guilt, anxiety, helplessness; (3) different coping styles: positive coping, negative coping. CONCLUSIONS: Parents encounter challenges in the management of sleep disorders in their children with autism and respond in different ways. Healthcare professionals should enhance their own professional training and take appropriate improvement measures in order to provide help and support to parents.

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15. van den Helder C, Plak R, Begeer S, Meeter M. Co-occurring Conditions and Quality of Life in Autistic Children Attending General Education or Special Education Schools. J Autism Dev Disord. 2025.

A majority of children with autism is diagnosed with one or more co-occurring mental health conditions. We aimed to explore how co-occurring conditions and Quality of Life differ between school types (general education vs. special education schools), and whether co-occurring conditions were subject to the same trends over time for the two school types. Secondary, we aimed to analyze associations with child characteristics. Repeated cross- sectional data from 2013 to 2022 on children with autism (N = 1534,aged 5-15 years) in the Netherlands were used. Across school types, we showed a decrease in externalizing and language-learning conditions over time. Language-learning conditions became more concentrated in special education schools. Hyperactivity-inattention difficulties remained stable, emotional difficulties decreased and behavioral difficulties increased. Compared to those in general education, children in special education schools faced more behavioral and hyperactivity-inattention challenges. School type, duration of the study, externalizing, internalizing and language-learning conditions were all unrelated to QoL. Autistic girls experienced more behavioral difficulties compared to boys with autism. In conclusion, children with autism in special education schools experience similar QoL, but have more (severe) co-occurring conditions than those attending general education.

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16. Wei R, Wang Y, Fang H, Guan L, Gao J, Xu X, Ke X, Jin H. Distinct features of EEG microstates in autism spectrum disorder revealed by meta-analysis: the contribution of individual age to heterogeneity across studies. Front Psychiatry. 2025; 16: 1531694.

BACKGROUND AND PURPOSE: Electroencephalographic (EEG) microstates, as quasi-stable scalp EEG spatial patterns, are characterized by their high temporal resolution, making them a potentially powerful approach for studying the function of large-scale brain networks. A substantial body of research has demonstrated that abnormalities in the function or structure of large-scale brain networks are closely related to many characteristics of autism spectrum disorder (ASD). Investigating the EEG microstate features of individuals with autism can help reveal the nature of autism. To date, numerous studies have observed unique resting-state microstate patterns in individuals with autism. However, the results of these studies have not been consistent. Therefore, the present study aims to assess the differences in microstate parameters between ASD and non-autistic groups through meta-analysis and to explore the sources of research heterogeneity. METHOD: This meta-analysis was preregistered with PROSPERO (CRD42024599897) and followed PRISMA guidelines. Studies in English comparing EEG microstate patterns between ASD and Non-autistic groups were retrieved by database search to October 20, 2024. The meta-analysis was then conducted using RevMan5.2. Pooled results are expressed as standardized mean difference (SMD). Heterogeneity (I²) and publication bias were assessed using Stata15.0. RESULT: Seven studies enrolling 194 ASD individuals were included, four deemed high quality and three moderate quality according to bias risk assessment. Microstate B duration and coverage were significantly greater in the pooled ASD group (duration SMD=0.83, 95%CI: 0.17-1.5; coverage SMD=0.54, 95%CI: 0.18-0.90), but heterogeneity could not be excluded. Microstate C occurrence frequency was also in the ASD group (SMD= -0.61, 95%CI: -1.08 to -0.15), and heterogeneity was significant. Sensitivity analysis revealed that only the group difference in microstate B coverage was robust. Subgroup analysis suggested that age was the main source of heterogeneity in microstate B and C coverage. Results were not affected by publication bias according to Egger’s test. CONCLUSION: Future studies on the EEG microstate characteristics of ASD must control for age as an important cofounding variable. SYSTEMATIC REVIEW REGISTRATION: PROSPERO, identifier CRD42024599897.

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17. Wood JJ, Storch EA, Sung K, Wood KS, Kendall PC. Social Responsiveness as a Mediator in Adapted Cognitive Behavioral Therapy for Autistic Youth with Maladaptive and Interfering Anxiety. J Autism Dev Disord. 2025.

Numerous adaptations to interventions have been included in cognitive behavioral therapy (CBT) for autistic youth. This study examines the degree to which CBT adapted to the social needs of autistic youth confers significant benefit by promoting social responsiveness. A secondary analysis was conducted on a multisite randomized clinical trial (Wood et al. in JAMA Psychiatry 77:474-483, 2020) comparing adapted CBT with standard-of-practice CBT and treatment-as-usual (TA). Autistic youth (N = 167; aged 7-13) with maladaptive and interfering anxiety participated. The adapted CBT (BIACA) uses a modular format, with an emphasis on supplementing common CBT practice elements (reframing and graded exposure) with social skill supports. The primary outcome measure was the Pediatric Anxiety Rating Scale. Social responsiveness was assessed with the Social Responsiveness Scale, Second Edition. Participants’ general mental health was assessed as a secondary outcome using the Brief Problem Checklist. Mediation was tested using the SPSS PROCESS macro. Analyses suggested that the effect of adapted CBT on anxiety was mediated by its effects on social responsiveness, with a statistically significant indirect effect. Youth randomly assigned to adapted CBT exhibited better overall mental health at posttreatment compared to those randomized to the other conditions, and this effect was also mediated by improved social responsiveness. CBT adapted to address some of the social needs of autistic youth may enhance mental health outcomes by supporting social responsiveness, perhaps increasing the ease and effectiveness with which some youth can navigate potentially stressful situations such as entering and participating in group activities.

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18. Zhou V, Xu J, Li X. Autism Predicts Performance on iPad-Administered Tests of Executive Functioning in Preschoolers in Mainland China. J Autism Dev Disord. 2025.

The purpose of this study was to investigate whether autism diagnostic status (versus neurotypical status) predicts performances on iPad-delivered measures of executive functioning (EF) in mainland Chinese preschoolers. The present study included 21 autistic preschoolers and 28 age- and gender-matched neurotypical preschoolers aged 3-6 years old. Participants were administered tests of visuospatial working memory, inhibitory control, and cognitive flexibility using the Early Years Toolbox. Results showed that autism predicted poorer performances on tests of working memory, inhibitory control, and cognitive flexibility in Chinese preschoolers. This study provides support for difficulties with visuospatial working memory, inhibitory control, and cognitive flexibility in autistic preschoolers in mainland China.

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