1. Babazade H, Günal B, Çalişgan K, Uygur E, Durcan G, Kılıç H, Zubarioglu T, Cansever M, Aktuğlu-Zeybek Ç, Kiykim E. Revealing BCKDK Deficiency Under Autism: A Case Report, Therapeutic Outcomes, and Literature Review. Turk Arch Pediatr. 2025; 61(8): 736-41.

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterised by defi-cits in social communication and stereotyped, restrictive behaviour. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a rare, autosomal recessive neurogenetic dis-order associated with a range of neurodevelopmental disorders, particularly ASD. We report the case of a 4.5-year-old boy with failure to thrive, microcephaly and global developmental delay. Plasma amino acid analysis revealed significantly reduced branched-chain amino acid (BCAA) concentrations. Whole-exome sequencing identified a homozygous nonsense variant in BCKDK. A multidisciplinary programme was initiated that included individualised high-protein medical nutrition therapy and oral BCAA supplementation titrated according to serial plasma levels. After eight months, plasma BCAA levels approached the lower limit of the normal range and behavioural improvements were sustained. Targeted dietary optimisation with additional BCAA supplementation partially normalised amino acid profiles and led to a measurable improvement in neurobehaviour in BCKDK deficiency, even when treatment was initiated after the diagnosis of ASD. Early metabolic screening of children with unexplained developmental delay or ASD is advisable, as timely nutrition-based intervention can improve both biochemical and neurodevelopmental outcomes.

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2. de Rezende VL, Ebs MFP, Daros FDS, da Costa MA, Bolan SJ, Viana GL, Pelegrini L, de Souza Colonetti N, Spillere MJF, da Silva Souza G, de Sousa Anastácio R, De-Pieri E, Dos Santos JCC, de Ávila RAM, Gonçalves Dal-Bó A, Gonçalves CL. PEGylated Liposomal Resveratrol Induces Region-Specific Redox Modulation Without Behavioral or Neurotrophin Recovery in a VPA Model of Autism. J Mol Neurosci. 2026; 76(3).

Autism Spectrum Disorder (ASD) is associated with neuroinflammation and oxidative stress that disrupt neurodevelopmental processes. Resveratrol (RSV) is a polyphenol with antioxidant and anti-inflammatory properties, but its poor bioavailability limits therapeutic use. This study investigated whether PEGylated liposomes encapsulating RSV (LipRSV) could modulate oxidative and behavioral alterations in a valproic acid (VPA)-induced rat model of ASD. PEGylated LipRSV were synthesized, characterized as hemocompatible, and administered to offspring from postnatal day (PND) 6 to 27. Behavioral tests included developmental milestones, olfactory discrimination, negative geotaxis, open field, and three-chamber social interaction. Oxidative stress markers and neurotrophins (BDNF, NGF) were quantified in the following brain regions: hippocampus, hypothalamus, striatum, cerebellum, frontal and posterior cortex. LipRSV exerted limited and region-dependent redox effects, reducing ROS levels only in the hippocampus, cerebellum, and posterior cortex, while failing to improve behavioral outcomes and being associated with unfavorable neurochemical alterations, including reduced BDNF and NGF levels. Importantly, LipRSV also induced behavioral deficits, redox imbalance, and neurochemical alterations in control animals, indicating treatment-related effects in the absence of VPA exposure. LipRSV modulated oxidative stress in a region-dependent manner without improving behavioral deficits in the VPA model and was associated with reduced BDNF and NGF levels. This study provides evidence that modulation of oxidative stress alone is insufficient to rescue behavioral phenotypes in the VPA model of ASD. These findings highlight the partial neurochemical efficacy and translational limitations of this formulation, suggesting the need for optimized nanocarrier design and dosing strategies in ASD pharmacotherapy.

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3. Heilbrun LP, Han I, Rodriguez A, Shay LA, Gimeno Ruiz de Porras D. A pilot autism case-control study of pesticides and plasticizers in shed baby teeth. Neurotoxicol Teratol. 2026; 117: 107710.

Even moderate exposures to pesticides and plasticizers have been associated with neurotoxicity and autism characteristics; however, most studies of urine and blood provide a short-term exposure window compared to teeth, which capture long-term exposures from 13-14 weeks in-utero through early childhood. We investigated cumulative pesticide and plasticizer exposures in shed baby teeth from children with and without autism using a comprehensive targeted and non-targeted analysis with two-dimensional gas chromatography coupled with time-of-flight mass spectrometry (GCxGC-TOFMS). Compound identification was confirmed with standards and high-fidelity spectral library matches. Sixty compounds were detected in more than 50% of participants (n = 38). Of these, 95% (57/60) were higher in cases compared to controls, and 19/60 were statistically significantly elevated. Thirty-nine of the 60 compounds detected are known developmental toxicants or endocrine-disrupting compounds. To date, 21/60 compounds lack Environmental Protection Agency (EPA) developmental toxicity data. Compounds exhibiting higher levels in cases than in controls include benzyl benzoate (fragrance and food preservative) and organophosphate esters, which are frequently found in flame retardants and other baby products, PEX tubing, food contact materials, and products applied to the skin. Interestingly, five of the top nine compounds that differentiated cases from controls migrate from baby bottles. Elevated levels of toxicants in autism cases in our pilot study highlight a need for larger case-control studies to understand the effects of long-term exposure on autism.

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4. John JR, Budiman WS, Lam-Cassettari C, Grimes PZ, Hingorani K, Kang YQ, Aishworiya R, Sundarimaa E, Volgyesi-Molnar M, Stefanik K, Szekeres A, Mardare I, Rad F, Eapen V. Cross-cultural associations between behavioural, emotional, and cognitive differences in autistic children and parental wellbeing: evidence from five countries. Front Psychiatry. 2026; 17: 1850089.

INTRODUCTION: Parental quality of life (QoL) and stress are strongly linked to behavioural, emotional, and cognitive differences in autistic children. However, these relationships have rarely been examined with a cross-cultural lens, despite the potential influence of sociocultural contexts on assessment and interpretation. To address this knowledge gap, this study employed multinational data to investigate the cross-cultural associations between emotional/behavioural and cognitive/adaptive differences in autistic children and parental wellbeing. METHODS: Data were obtained from 219 autistic children aged up to 18 years across five countries (Australia, Singapore, Hungary, Romania, and the United Kingdom). Standardised instruments were used to assess four key domains of parental QoL, parental stress, child’s behavioural/emotional difficulties, and adaptive/cognitive differences. Since different standardised instruments were used across countries, all measures were dichotomised according to established clinical cut-offs for each instrument. Multivariable logistic regression models were used to examine associations between children’s autistic difficulties and parental wellbeing accounting for country- and measure-level variations. RESULTS: Across countries, children experiencing higher emotional/behavioural difficulties were significantly associated with lower parental QoL (QoLA Part A: AOR = 0.36, 95% CI 0.11-0.97) and twice higher odds of parental stress (AOR = 2.11, 95% CI 1.08-4.54). However, the association between cognitive/adaptive difficulties and parental QoL and parental stress did not reach statistical significance. Additionally, there were no evidence of country- or measure-level heterogeneity for parental wellbeing outcomes (ICC = 0.00), indicating consistent associations across cultural contexts and assessment tools. DISCUSSION: Emotional and behavioural difficulties in autistic children are significantly associated with poorer parental quality of life and increased stress across diverse cultures, suggesting that the challenges faced by parents are largely universal. These findings highlight the importance of early identification and family-centred, culturally responsive supports to improve wellbeing for both autistic children and their parents.

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5. Kozhemiako N, Gong NN, Purcell SM. The effect of sex on sleep neurophysiology in typical and altered neurodevelopment. Sleep Med. 2026; 147: 109153.

STUDY OBJECTIVES: Sleep electroencephalography (EEG) patterns exhibit complex variations influenced by multiple factors, including age and sex. While sex effects in sleep neurophysiology are well-described in adults, evidence in pediatric populations is limited, particularly in the context of neurodevelopmental disorders (NDDs). METHODS: Here, we analyzed a large pediatric clinical dataset to examine sex differences in whole-night sleep EEG among children without NDDs (N = 1523, 2.5-17.5 years) and those with autism spectrum disorder (ASD,N = 196), attention deficit hyperactivity disorder (ADHD,N = 523), and intellectual disabilities (IntDis,N = 167). We investigated sleep macro- and microarchitecture, including spectral power, density and morphology of spindles and slow oscillations, and their temporal coupling. RESULTS: Significant sex differences in the non-NDD sample were observed across features of sleep macroarchitecture, spectral power, sleep spindles, and slow oscillations, with the majority of findings replicated in an independent cohort. More specifically, non-NDD boys exhibited more fragmented sleep compared to girls, but this pattern was not observed among children with NDDs. In contrast, fast spindle density was lower in boys regardless of NDD diagnosis, which may contribute to males’ increased susceptibility to developing NDDs. No sex differences were observed in EEG-based brain age predictions. Medical record analysis revealed limited sex differences in the prevalence of sleep disorders. We found strong evidence of altered sleep EEG characteristics in boys and girls with IntDis. Several sleep EEG metrics showed nominal group-by-sex interactions with ASD and ADHD girls displaying more pronounced alterations, pointing to a varying degree of sleep disturbance. CONCLUSIONS: Our findings demonstrate that many sleep EEG features exhibit significant sex differences during childhood, but these differences may be distinct in NDD populations. The sex-specific sleep alterations in NDDs highlight the potential importance of considering sex in pediatric sleep research.

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6. Leroy G, Nimbarte H, Kandula MS, Barai P, Lee S, Maltman N, Rice S. Utility of lay and clinical narratives for transparent autism diagnosis using BioBERT deep learning. Front Digit Health. 2026; 8: 1804334.

INTRODUCTION: Early autism diagnosis remains challenging due to reliance on clinical observation and limited specialist availability. Addressing these barriers through automated diagnostic labeling and the integration of parental input may help mitigate the problem. METHODS: We trained a BioBERT machine learning model to label individual autism behavioral descriptions using the seven DSM-5 diagnostic criteria (A1-A3, B1-B4). This approach offers transparent clinical decision-making by providing detailed diagnostic information for individual behaviors and avoiding final case-level black-box decisions. We evaluated the model’s performance on labeling lay (N = 35,971) and clinical (N = 145,603) behavior descriptions, as well as its transferability between the two. In addition, we compared the data sources by evaluating the diagnostic utility of lay and clinical examples across four dimensions, and of AI-generated summaries across two dimensions. RESULTS: We found that BioBERT can label both types of input, although it achieved higher precision (69%) on clinical descriptions and higher recall (83%) on lay descriptions. Sample size did not explain differences in performance. Transferring models from one data type to another results in a performance drop. Overall, training first on clinical data yielded the best-performing diagnostic models. When evaluating the examples from both data sources, the results show similar scores for the Utility, Specificity, Clinical Relevance, and Impact on Daily Life dimensions, and the cosine similarity analysis revealed substantial overlap (0.42) in vocabulary between the two. The utility of examples for A diagnostic behaviors was generally scored higher than that for B diagnostic behaviors. AI-generated summary scores showed a similar pattern between A and B examples but they were only moderately representative of these examples. DISCUSSION: These results demonstrate that lay behavioral descriptions can provide diagnostically valuable information comparable to clinical observations, although they are not readily summarized by AI. The integration of lay information into the diagnostic workflows could accelerate autism diagnosis without compromising clinical utility.

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7. Mestari Z, Pradel S, Veyre A, Sermier Dessemontet R. Behaviours That Challenge in Special Schools: Heterogeneity of Profiles Among Students With Intellectual and Developmental Disabilities and Implications for Educational Support. J Intellect Disabil Res. 2026.

BACKGROUND: This study aimed to examine the types and frequency of challenging behaviours (CB) among students with intellectual and developmental disabilities in special education schools and identify profiles among them. METHODS: Data were collected from 239 special school staff members, who reported information on 635 students via an online survey. A multilevel latent class analysis was used to identify subgroups of students based on the type and frequency of CB while controlling for respondent nesting. RESULTS: According to respondents, among students in their classrooms (M = 6.02, SD = 2.54) about half displayed persistent CB (M = 2.88, SD = 2.08). Oppositional and socially inappropriate behaviours were the most frequently reported, displayed by over 90% of students with CB and occurring daily. Group 1 (n = 169, M = 11.00 years) exhibited the most severe and frequent CB across nearly all categories, mainly physical and verbal aggression and destructive behaviours. Group 2 (n = 200, M = 9.90 years) showed high levels of physical aggression, self-injurious and destructive behaviours, but very low levels of verbal aggression. Group 3 (n = 131, M = 12.17 years) was characterised by overall low levels of CB, with some verbal aggression. Finally, Group 4 (n = 135, M = 10.86 years) showed elevated rates of destructive behaviours, a moderate prevalence of physical aggression and self-injurious behaviours, in addition to the lowest rate of socially inappropriate behaviours. CONCLUSIONS: These profiles highlight the heterogeneity of CB presentations among students in specialised educational settings and underscore the need for tailored educational and behavioural support and intervention.

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8. Mihai EE, Ciobanu I, Teodorescu M, Marin AG, Maharatna K, Berteanu M. From risk to resilience: a narrative overview of modifiable factors influencing anxiety in children with autism spectrum disorder (part II). Front Psychiatry. 2026; 17: 1872455.

BACKGROUND: Anxiety disorders are highly prevalent in children and adolescents with Autism Spectrum Disorder (ASD) and contribute substantially to functional impairment and reduced quality of life (QoL). OBJECTIVE: This paper represents the second part of a two-part narrative overview addressing internalizing symptoms in ASD. Complementing the first paper focused on depression, the present work examines anxiety, emphasizing shared and distinct modifiable risk and protective factors within a unified conceptual framework. METHODS: A structured narrative overview was conducted, synthesizing evidence from systematic reviews, meta-analyses, and robust clinical studies. Studies were selected based on relevance and scientific rigor, and findings were organized across biological, psychological, and environmental domains. RESULTS: Anxiety in ASD is associated with multiple interacting factors, including sensory hypersensitivity, intolerance of uncertainty (IU), social challenges, and neurobiological vulnerability. Protective factors such as cognitive-behavioral therapy (CBT), structured physical activity, and supportive environments may mitigate anxiety symptoms and promote adaptive functioning. Nevertheless, variability in study design and population characteristics limits generalizability. CONCLUSIONS: Addressing anxiety in ASD requires a comprehensive, multidisciplinary strategy that integrates risk reduction with resilience-building interventions. Together with the first part of this overview, these findings support transdiagnostic and personalized approach to mental health in children and adolescents.

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9. Murphy E, Nielsen B, Smith K, Flanagan S, Carrillo S, Magasi S. Designing the Home Environment to Support Aging in Place for Individuals With Intellectual and Developmental Disabilities. Arch Phys Med Rehabil. 2026.

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10. Ong N, Zadeh SG, Zieba J, Pobre K, Tomsic G, Milne J, Jani S, Silove N. Improving the Safety and Quality of Care for Children and Young People With Intellectual and Developmental Disability. The Motivated for Change Programme in a Paediatric Emergency Department Setting. A Mixed Methods Study. Health Expect. 2026; 29(4): e70776.

BACKGROUND: Children and young people with intellectual and developmental disability have long been known to suffer from inequities in accessing safe and quality health care. These challenges are most felt within the emergency department due to its busy, crowded, and overstimulating environments with staff that are not trained to provide reasonably adjusted care. AIMS: The study is an evaluation using qualitative and quantitative methods of a continuing education and quality improvement programme designed to increase the knowledge, skills, and confidence of healthcare staff in providing reasonable adjustments to children and young people with intellectual disability in hospitals. METHODS: This study evaluated the Motivated for Change programme, which uses Behavioural change, Adult Learning, and Quality Improvement strategies to drive practice change and service improvement. A hundred and thirty-one and 89 staff participated in a pre- and post-intervention survey. Interviews were conducted with parents of children and young people with intellectual and developmental disability attending the emergency department. Observational studies were also conducted in the pre- and post-intervention phase. These were transcribed, categorised, and coded with themes derived. Consensus was reached through meetings with the research team. RESULTS: The Motivated for Change programme has demonstrated significant increases in staff knowledge, skills, and experience in providing safe and quality care for these children and young people. Evidence of change is reflected in the parent and staff interview and observational study themes. In addition, staff were further motivated to undertake quality improvement projects, develop an in-house training programme to provide ongoing training for new staff, and make further improvements in the department. CONCLUSIONS: The Motivated for Change programme has demonstrated its efficacy in enabling changes in the practice of reasonable adjustments and the emergence of local champions for sustained efforts for ongoing improvements in safety and quality of care. PATIENT AND PUBLIC INVOLVEMENT: The development of the research question and outcome measures was informed by data from previous research publications involving parents and staff. We sought input from a parent advisory committee in the design of the study. Parents were not involved in the recruitment and conduct of the study. Results were presented to the parent advisory at the end of the study.

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11. Perovic A, Wexler K. Comprehension of Agentive and Psychological Verb Passives in Autistic Children With and Without Language Impairment: Evidence for Distinct Developmental Trajectories. J Autism Dev Disord. 2026.

PURPOSE: While distinct pragmatic profiles are well-documented, grammatical abilities in autistic children show considerable heterogeneity: some exhibit grammatical difficulties, while others demonstrate age-appropriate grammar. Yet, one construction remains underinvestigated: passives of psychological/mental state verbs (« remember », « love »). This is critical because young children are known to comprehend passives of agentive verbs (« kiss », « push ») via an adjectival passive strategy before acquiring passive grammar. This strategy fails for psychological verbs, making them the true test of passive knowledge. Despite extensive research in typically developing (TD) populations and populations with other neurodevelopmental conditions, there is little research examining both types of verbal passive in English-speaking autistic children. METHODS: We examined comprehension of agentive and psychological passives, short and long, in 48 autistic children divided into those with co-occurring language impairment (ALI, n = 26, mean age: 11;10), and those without (ALN, n = 22, mean age = 11;02), compared to two control groups matched on non-verbal reasoning (TD-Match-ALI, n = 22, mean age: 5;11 and TD-Match-ALN, n = 22, mean age: 10;03), on a sentence-matching task. RESULTS: Children with ALN demonstrated age-appropriate performance across all constructions. In contrast, children with ALI performed at or below chance on both agentive and psychological passives, indicating absence of the adjectival strategy, and a profile distinct from all other groups including younger TD children. CONCLUSIONS: The findings reveal distinct developmental trajectories: children with ALN show age-appropriate grammatical development, while children with ALI demonstrate fundamental syntactic impairments. These results highlight the importance of testing psychological verb passives to accurately identify grammatical difficulties that standardised assessments may miss.

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12. Sağlam B. Beyond diagnostic categories: sensory processing as a transdiagnostic mechanism in autism, ADHD, and PTSD – a neuropsychoanalytic conceptual analysis. Front Psychol. 2026; 17: 1871344.

The post-pandemic surge in adult ADHD presentations has intensified a question that categorical diagnosis tends to foreclose: What do autism, ADHD, and PTSD share at the level of developmental organization? This paper offers a conceptual analysis of sensory processing differences as a transdiagnostic mechanism linking these three conditions, examined through a neuropsychoanalytic lens. Drawing on current empirical literature and the French psychosomatic tradition, we explore how the sensory modalities most consistently implicated across all three (auditory, tactile, and vestibular) are precisely those that achieve functional maturity in utero, rendering their organization vulnerable to the quality of the prenatal sensory environment. Maternal prenatal stress, mediated through HPA axis activation and epigenetic programming of the NR3C1 glucocorticoid receptor gene, constitutes one documented pathway through which this vulnerability may be established. We further examine how Bydlowski’s concept of psychic transparency during pregnancy, in which the usual defenses against unconscious material are lowered and archaic, unprocessed material resurfaces, may provide a psychoanalytic account of intergenerational beta element transmission, whose somatic correlate is the molecular inscription documented by prenatal stress research. The self-soothing and self-regulatory behaviors observed across these three populations are reconsidered not as symptoms to be eliminated but as proto-alpha mechanisms: bodily attempts at psychic organization where adequate containment has been unavailable. Clinical and research implications of this conceptual framework are discussed.

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13. Trisha AD, Imran MA, Hafsa JM, Chandra Mohanto N. Association Between Heavy Metal Exposure and Autism Spectrum Disorders: Discrepancies, Research Gaps, and Future Priorities of Human Epidemiological Studies. Geohealth. 2026; 10(8): e2026GH001955.

Autism spectrum disorder (ASD) in children is a major public health challenge. The potential epidemiological links between heavy metal exposure and ASD remains a controversial issue. This critical review examines the epidemiological discrepancies, including variations in exposure assessment, study design, and population differences that contribute to the ongoing debate. Key research gaps, such as the need for longitudinal studies and mechanistic insights, are addressed. Finally, we outline future priorities to advance understanding of heavy metals’ role in ASD. Lead (Pb), cadmium (Cd), mercury (Hg), and arsenic (As) were selected heavy metals. The PubMed and Scopus databases, as well as the Google Scholar search engine, were searched to retrieve original research articles on human epidemiological studies that utilized the selected « exposure keywords » in conjunction with the « outcome keywords. » Finally, 36 full-length articles, irrespective of age, sex, regions, and race/ethnicity, were included for the present review. We revealed inconsistent associations between prenatal and childhood urinary, blood, and hair, As and Cd exposure, and ASD outcomes. In contrast, elevated prenatal and early childhood Pb and Hg concentrations in blood and hair samples showed a significant consistent association with both increased ASD risk and symptom severity, even after adjustment for key demographic and environmental confounders. The findings are inconsistent across metals and studies, and should be interpreted with caution due to potential residual confounding and heterogeneity in exposure assessment methods. Large prospective cohort studies are needed to clarify causal relationships. The path analysis of relevant biomarkers is also warranted to establish biological mechanism. This review examined whether exposure to lead, cadmium, mercury, and arsenic is linked to autism spectrum disorder (ASD) by analyzing 36 human studies. The findings were metal‐specific. For arsenic and cadmium, most studies found no clear association. Mercury results were highly variable: about half reported positive links, while others found none or inverse relationships. Lead showed the most consistent signal, with 60% of studies linking higher levels to increased ASD risk or severity, although many well‐conducted studies found no association. Overall, the evidence does not support a blanket conclusion that heavy metals cause ASD. Rather, lead and mercury may contribute to ASD risk in certain populations or under specific exposure conditions, but these findings require cautious interpretation due to methodological differences and potential biases. Long‐term prospective mother‐child cohort studies with significant participants are needed to clarify whether these metals truly play a causal role. eng.

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14. Yu X. Heterogeneity in autism – challenges and opportunities. Curr Opin Neurobiol. 2026; 100: 103250.

Autism spectrum disorder is a heterogeneous condition marked by social communication difficulties and restricted/repetitive behaviors. Although major progress has been made over the past two decades in understanding its genetics and molecular mechanisms, effective treatments remain limited. Report from the 2021 Lancet Commission on autism recommends that research should focus on improving quality of life through personalized assessment and intervention. Due to its heterogeneity, multiple treatment strategies will likely be needed. For some individuals, especially those with severe syndromic autism, gene therapy may offer future therapeutic options. To match patient subgroups to treatments, both « mutation clustering to treatment » forward approach and « treatment to disease subgroup » reverse approach can be used. Building a broad treatment portfolio will take time, but even incremental advances would be meaningful. Principles of neural plasticity, such as early intervention and repeated practice, may also enhance outcomes alone or alongside other therapies.

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15. Zhu XN, Wang LL, Qi ZX, Yang J, He TY. [A case of developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities caused by ZNF699 variation]. Zhonghua Er Ke Za Zhi. 2026; 64(8): 949-51.

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