1. Akdaş EY, Lu D, Zhang L, Cheng M, Bashiri Dezfouli A, Wollenberg B. Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants. Int J Mol Sci. 2026; 27(15).

Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS; OMIM #617915) is an ultra-rare autosomal dominant disorder caused by predominantly de novo pathogenic variants in CTBP1, encoding a NAD(H)-dependent transcriptional corepressor. We reviewed all HADDTS cases reported from database inception to July 2026, searching PubMed/MEDLINE, Google Scholar, ClinVar, DECIPHER, OMIM, preprint servers, and the HADDTS Foundation, identifying 25 peer-reviewed cases from at least 11 countries; registries indicate at least 50 known individuals. Global developmental delay and language impairment were universal (25/25, 100%), followed by intellectual disability (24/25, 96%), hypotonia (22/25, 88%), ataxia and enamel defects (19/25, 76% each), cerebellar atrophy (18/25, 72%), feeding difficulties (15/25, 60%), myopathy (15/25, 60%), regression (10/25, 40%), oculomotor apraxia (7/25, 28%), scoliosis (6/25, 24%), respiratory chain dysfunction (5/25, 20%), skeletal anomalies (4/25, 16%), and seizures (2/25, 8%). The recurrent p.Arg342Trp (NM_001328.2; p.Arg331Trp, MANE Select NM_001012614.2) accounts for 84%, with severity from mild impairment to profound disability. In all four non-recurrent-variant carriers the canonical tetrad was incomplete; seizures and classifying skeletal anomalies occurred only in that group. Mutant CTBP1 acts dominant-negatively and heterodimerises with the essential paralog CTBP2, explaining the multisystem severity. HADDTS is a neurodevelopmental-mitochondrial overlap disorder; registries, mitochondrial evaluation, and allele-specific therapies are priorities.

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2. Bashtawi MA, Al-Zgool AA, Al Sharman DA, Alsmadi MY, Issa FM. Exploring Parental Factors in Autism Spectrum Disorder Risk: A Case-Control Study. Matern Child Health J. 2026.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition. Diagnosis is based on developmental history and behavioral observation. Parental age has been identified as a potential risk factor for ASD. OBJECTIVES: This study aimed to assess the association between maternal age, paternal age, parental education level, smoking history, and ASD risk. METHODS: This case-control study included 154 individuals with ASD and 335 controls. Demographic, clinical, and familial data were collected through structured questionnaires and interviews. Statistical analysis included descriptive statistics and chi-square tests for categorical variables. RESULTS AND DISCUSSION: A total of 489 participants were included (154 ASD cases and 335 controls). The ASD group was predominantly male (77%), compared with the control group (68%). Mothers in both groups most commonly held a bachelor’s degree (40%), while fathers showed more variable educational backgrounds. A family history of ASD was significantly more frequent in the ASD group (23%) compared with controls (5.4%), whereas a family history of psychiatric disorders showed no significant difference (15% vs. 11%). NICU admission (11% vs. 2.4%) and preterm delivery (7.3% vs. 1.8%) were more common in the ASD group. In multivariable analysis, paternal age (adjusted OR = 1.08, 95% CI: 1.03-1.14), maternal age (adjusted OR = 1.09, 95% CI: 1.03-1.15), male sex (adjusted OR = 4.13, 95% CI: 2.38-7.16), and family history of ASD (adjusted OR = 2.40, 95% CI: 1.09-5.30) were independently associated with ASD. CONCLUSIONS: ASD risk was independently associated with parental age, male sex, and family history of ASD, highlighting the role of genetic and demographic factors. Prospective longitudinal studies are needed to further clarify ASD risk trajectories.

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3. Bayer M, Dziobek I. Special Interests in Autism: Functions, Benefits, and Challenges. Autism. 2026: 13623613261471572.

Special interests are a highly prevalent feature of autism spectrum conditions (ASC) and have long been described primarily from a deficit-oriented perspective. More recent work has pointed to their potential as psychological resources, yet systematic evidence and direct comparisons with non-autistic groups remain limited. The present study examined the significance of special interests for well-being, self-related aspects and emotion regulation in autistic adults, as well as negative consequences and stigma. Furthermore, we directly compared the likelihood of engaging in special interests versus seeking social contact across a range of emotional contexts. A total of 182 participants (60 autistic and 122 non-autistic) completed an online survey on multiple aspects of their (special) interests and measures of social anxiety and self-esteem. Autistic individuals reported a stronger role of special interests in emotion regulation and as a source of learning and knowledge, while also experiencing greater stigma and negative consequences compared with non-autistic participants. Autistic participants further showed a higher likelihood of relying on their interests as a coping strategy in negative and exhausting situations, highlighting their particular relevance for emotion regulation. Our findings emphasize the unique functions of special interests in autism and point to their therapeutic potential as adaptive resources.Lay AbstractMany autistic people have special interests – topics or activities they pursue with great passion. We asked autistic and non-autistic adults how meaningful their interests are and how they use them in different emotional situations. Autistic people reported that interests are especially helpful for coping with stress and regulating emotions, and that they are an important source of learning and knowledge. On the other hand, autistic individuals also experienced more stigma and negative reactions from others than non-autistic individuals. Our findings show that special interests are an important source of well-being and should be recognized as a valuable resource in autism.

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4. Boone PM, Erdin S, Mohamed A, Haghshenas S, Faour KNW, Kao E, Fu J, Auwerx C, Harripaul R, Jana B, Springer D, Hallstrom G, de Esch CEF, Denhoff E, Holmes L, Mohajeri K, Lemanski J, Kerkhof J, McConkey H, Rzasa J, McCune MJ, Levy MA, Grafstein J, Larson M, Wright Z, Beauchamp RL, Lucente D, Jamra RA, Agrawal N, Agrawal PB, Andersen EF, Argilli E, Araiza R, Ballal S, Baxter MF, Bergant G, Bertsche A, Bhavsar R, Bortola DR, Bothe V, Brasch-Andersen C, Braun D, Bruel AL, Buchanan C, Burt ND, Carvalho LML, Chiriatti L, Cogne B, Collins R, Crunk A, Currall B, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Devriendt K, Domingo A, Duncan L, Faivre L, Famularo L, Fulton A, Genetti CA, Harel T, Havlovicova M, Higgs J, Houlier M, Iascone M, Immken L, Isidor B, Kaiser FJ, Karbone K, Kenna M, Khan A, Kimmig LK, Kleefstra T, Kraus EM, Krepischi ACV, Krey I, Ladda RL, Lanoue L, Le Caignec C, Lewis ZK, Lima G, Lynch SA, Macek M, Jr., Maier O, Maitz S, Male A, Malikova M, McKay V, Moldovan O, Monteil D, Oliveira MM, Munasinghe J, Nakamori S, Neuser S, Nizon M, Nuttle X, O’Keefe K, Orec L, Parenti I, Peterlin B, Pfundt R, Pouncey J, Radio FC, Robert L, Rodan L, Rosenberg-Fogler H, Rosenfeld JA, Safraou H, Salani M, Schliesske S, Seaby EG, Sell SL, Shearer AE, Sherr E, Shillington A, Siebold D, Sinnema M, Smith L, Stegmann APA, Stevens CA, Stevens SJC, Surette E, Tartaglia M, Taylor JC, Thompson ML, Tørring PM, Tran Mau Them F, Tsoulaki O, Umair M, Vanhoutte E, Vincent M, Vitobello A, von Wintzingerode L, Watt A, Wayhelova M, Wentzensen IM, Wilson W, Wojcik MH, Yuan B, Zampino G, Srivastava S, Westphal DS, Riedhammer KM, Joyce E, Yadav R, Gusella JF, Tai DJC, Sadikovic B, Pfeifer KE, Talkowski ME. Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder. Am J Hum Genet. 2026; 113(8): 1691-718.

Cohesin orchestrates gene expression via three-dimensional chromosome folding. Genes encoding cohesin and cohesin loaders have been associated with Mendelian disorders, whereas genes encoding cohesin release factors, including WAPL and its binding partners PDS5A and PDS5B, have not. We explored the relevance of cohesin release factors in Mendelian disease by phenotyping individuals with heterozygous predicted damaging variants in WAPL (n = 27), PDS5A (n = 8), and PDS5B (n = 8), by modeling WAPL deficiency in human cells and mice, and by aggregating disease association statistics from consortia studies. We identified a WAPL-related disorder featuring developmental delay, intellectual disability, and risk of other developmental anomalies. Similarities between individuals with damaging WAPL variants and those with large, recurrent 10q22.3q23.2 (10q) deletions encompassing WAPL nominate WAPL as a driver gene within this genomic disorder region. While individuals with PDS5A or PDS5B variants exhibited features of developmental disorders, neither cohort-based statistics nor subject phenotyping associated these genes with specific phenotypes. We used CRISPR to generate truncating variants in WAPL and 10q deletion or duplication in human induced pluripotent stem cells (iPSCs) and induced neurons. Transcriptomics identified significant overlap between WAPL haploinsufficiency and 10q deletion differentially expressed genes. Mice with 50% Wapl expression exhibited mild deficits of growth and learning/memory, whereas those with 25% residual Wapl displayed birth defects and postnatal lethality, revealing a dosage liability threshold below the level of heterozygosity. In summary, we delineated a genetic condition caused by cohesin release factor deficiency, nominated WAPL as a driver gene within a genomic disorder region, and further illuminated dosage sensitivity of human cohesin.

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5. Castillo-Ortega R, Hewstone-García C, Belmar-Riquelme G, Jara-Mella V. Design and content validation of AUTIVA: an ecobiopsychosocial instrument for childhood autism. Front Public Health. 2026; 14: 1768438.

There are no community-based surveys for the development or assessment of public policies with an ecobiopsychosocial approach for autistic children. This article reports the development of an instrument assessing characteristics of Chilean autistic children, in order to understand how autism manifests in different environments. This study consisted of two stages: Firstly, after a comprehensive literature review, an instrument was designed by health and education professionals alongside autistic individuals and primary caregivers. Secondly, content validation was performed using the Content Validity Index, through the calculation of the Lawshe Content Validity Ratio. Sixty questions were validated, distributed across six subscales: « General Health Profile » obtained a Content Validity of 0.94; The subscales « Sex and Gender, » « Autism Diagnosis and Concomitant Pathologies, » « Family Income and the Impact of Autism on Socioeconomic Status, » « Diet of the Autistic Person, » and « Therapies and Schooling » obtained Content Validity Indexes of 0.89; 0.98; 1.0; 0.96; and 1.0, respectively. The Content Validity Index for the full instrument was 0.96. The survey presented demonstrated initial evidence of content validity and may serve as a basis for future psychometric validation. It allows for the assessment of this population in various life aspects, and offers great potential for creating public care policies regarding this community. As this study represents an initial content validation phase, future research should assess construct validity, criterion-related validity, reliability, and cross-cultural applicability.

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6. Dai S, Zou K, Lv G, Deng C, Su Y, Yang R, Pan B. Identification of EIF4A1 as a candidate molecular indicator of autism spectrum disorder using integrative bioinformatic and biological methods. Brain Res. 2026; 1890: 150485.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and molecular mechanism. Identifying reliable molecular biomarkers remains a critical challenge. In this study, we integrated mRNA expression profiles from five post-mortem brain tissue GEO datasets to identify ASD-associated genes. Following batch effect correction, differentially expressed genes (DEGs) were analysed and Weighted Gene Co-expression Network Analysis (WGCNA) was performed to screen genes correlated with ASD. Then, five machine learning algorithms – Random Forest, LASSO, Boruta, CatBoost, and LightGBM – were applied to screen hub genes. Lastly, alterations of the hub gene(s) were investigated with a maternal immune activation (MIA) rat model using poly I:C by measuring mRNA expression of the hub genes in the rat nucleus accumbens (NAc) and caudate putamen (CPu). A total of 30 DEGs and 54 WGCNA module genes were identified, yielding 29 key candidates by intersecting these two gene sets. EIF4A1 (Eukaryotic Translation Initiation Factor 4A1) was the sole gene consistently ranked among the top five by all five machine learning algorithms. Analysis of the integrated dataset confirmed that EIF4A1 mRNA expression was significantly elevated in ASD subjects. Finally, using the MIA rat model of ASD, we found that EIF4A1 mRNA expression was significantly down-regulated in the NAc and CPu, and this deficit was rescued by treatment with the antipsychotics olanzapine or risperidone. In conclusion, the present study positions EIF4A1 as a promising candidate molecular indicator with potential implications for understanding disease mechanisms and developing targeted interventions of ASD.

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7. Dickinson A, Booth M, Huberty S, Ryan D, Campbell A, Girault JB, Miller NC, Lau BK, Zempel JM, Webb SJ, Elison JT, Lee AK, Estes AM, Dager SR, Hazlett HC, Wolff JJ, Schultz R, Marrus N, Evans AC, Piven J, Pruett JR, Jr., Jeste SS. Visual Cortical Response Variability in Infants at High Familial Likelihood for Autism. Dev Sci. 2026; 29(5): e70266.

Visual processing undergoes rapid development in the first year of life, supporting the emergence of higher-order cognitive, language, and motor functions. Visual evoked potentials (VEPs) provide a noninvasive measure of visual system maturation that may shed light on heterogeneous developmental trajectories among infants at high familial likelihood for autism. Infants with an older sibling with autism spectrum disorder (N = 177 at 6 months; N = 132 at 12 months) participated in the Infant Brain Imaging Study-Early Prediction (IBIS-EP) study. Pattern-reversal VEPs were recorded at 6 and 12 months, and developmental skills were assessed at 24 months using the Bayley Scales of Infant and Toddler Development (Bayley-4). VEP components (P1 and N1) were characterized by their amplitude and latency, as well as trial-to-trial variability in these measures. Associations with 24-month cognitive, language, and motor scores were examined using general linear models controlling for age, site, sex, and trial count. Robust VEPs were observed at both time points, with age-appropriate morphology and expected developmental changes, including decreases in P1 latency and amplitude from 6 to 12 months. Greater trial-to-trial variability in P1 latency at both time points was associated with higher cognitive and language scores at 24 months. In contrast, conventional measures of mean P1 latency and amplitude were not associated with developmental outcomes. These findings suggest that temporal variability in early visual responses may index adaptive sensory-circuit flexibility during a period of rapid experience-dependent development. VEP response-timing variability may therefore provide an early mechanistic marker of sensory-circuit organization relevant to later developmental trajectories.

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8. Guimarães GNF. Autism prevalence and the limits of diagnostic expansion: a perspective on diagnostic validity, adult assessment, and phenotypic stratification. Front Psychiatry. 2026; 17: 1917652.

The reported prevalence of autism spectrum disorder (ASD) has risen dramatically over the past two decades. Although increased awareness, broader diagnostic criteria, and improved access to assessment have corrected historical under-identification, this diagnostic expansion also raises a significant methodological concern: the risk of diagnostic dilution. Increasingly, surveillance systems and clinical cohorts may include individuals whose phenotypic profiles, developmental histories, and functional impairments do not fully align with a developmentally anchored neurodevelopmental presentation of ASD. This challenge is particularly acute in adolescent and adult assessments, where developmental history may be incomplete and standardized instruments or self-report measures may show limited specificity when applied to clinically complex psychiatric populations. Conflating developmentally anchored ASD with partially overlapping clinical phenotypes may reduce the signal-to-noise ratio in genetic, biomarker, neuroimaging, and therapeutic research, contributing to findings that are difficult to replicate or interpret. To preserve diagnostic validity, this Perspective argues that best-estimate clinical diagnosis must be grounded in rigorous developmental anchoring, collateral information, and judicious clinical judgment. It further proposes a set of core stratification domains for systematic phenotypic stratification, including age at first concern and diagnosis, biological sex and sex-related ascertainment factors, language and cognitive trajectories, adaptive functioning, intellectual disability, psychiatric comorbidities, ascertainment source, diagnostic instruments used, collateral developmental documentation, and support needs and functional impairment across contexts and over time. Stratification should not be understood as a restriction on clinical access, but as a scientific requirement for meaningful prevalence estimates and biologically informative autism research.

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9. Holle LM, Kratz J, Dow-Hillgartner EN, Patel MA, Deming D, Uboha N, Lubner S, LoConte NK. HopeFOL, or FOL of problems? Leucovorin for autistic symptoms. Oncologist. 2026; 31(9).

In late 2025, the US Food and Drug Administration (FDA) made an unprecedented announcement about approving leucovorin for autism symptoms. But the data for its use in autism is flawed. It has only been shown to be safe and effective in a rare genetic syndrome caused by a mutation in the folate receptor alpha gene (FOLR1-CFTD), for which FDA approval was granted in March 2026. Yet patients with autism are already seeking leucovorin. Why is this important in oncology? This approval could impact patients with cancer, where leucovorin is regularly used to mitigate high-dose methotrexate toxicity and enhance fluorouracil efficacy. Leucovorin shortages have been common since 2008. An increased demand for leucovorin for autistic symptoms could limit the available supply for patients with life-threatening cancers. Previous leucovorin drug shortages have led to poorer outcomes by use of less effective regimens, increased real and near-miss errors, decreased clinical trial enrollment, and increased costs. The oncology healthcare team can play a crucial role in minimizing the impact of the off-label use of leucovorin on the care of patients with cancer. As healthcare providers, we need to ensure that access to medications is available only for indications that are based on sound science and peer-reviewed research or are available within a clinical trial.

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10. Huynh T, Greenlee JL, Dasoo M, Jenkins M, Piro-Gambetti B, Hartley SL. Parent Dyadic Coping and Parent-Child Relationship Quality in Families of Autistic Children. Res Autism. 2025; 128.

BACKGROUND: Within two-parent households, the extent to which parents are satisfied in their couple relationship is theorized to influence the parent-child relationship. Parents in a satisfying couple relationship are thought to be better able to jointly manage and cope with everyday child-related problems and stressors than parents dissatisfied with their couple relationship. METHOD: The current study conducted a within-couple cross-sectional examination of the associations between couple relationship satisfaction (actor and partner), parent-child relationship quality, and dyadic coping. Data was obtained on 186 families of autistic children aged 5-12 years. RESULTS: An actor-partner mediation interdependence model (APIMeM) was conducted, yielding a significant actor association between the level of couple relationship satisfaction and parent-child relationship, which was mediated by positive dyadic coping. In addition, mothers’ level of couple relationship satisfaction was correlated with father-child relationship quality, and this association was also mediated by positive dyadic coping. CONCLUSION: Our findings can inform programs to strengthen parent-child relationship quality in families with an autistic child.

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11. Keating BA, Ogru Y, Isikgel E, Sharma K, El-Sukkari D, Fahey MC. NTI164, a novel medicinal cannabis extract, improves core symptoms of autism spectrum disorder: Results from a double-blind, randomised, controlled trial (The Harmony study). Neurotherapeutics. 2026; 23(5): e01033.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder, characterised by difficulties with communication, social interaction, repetitive behaviours, restricted interests, and varying levels of intellectual disability. Aetiology remains unclear for many patients and the underlying physiology is complex. Approved pharmacological treatments of ASD target irritability, temper tantrums, and agitation, with no therapies targeting core ASD symptoms. This double-blind, randomised, placebo-controlled Phase II/III clinical trial investigated the efficacy and safety of NTI164, a novel full-spectrum medicinal cannabis product with <0.3% tetrahydrocannabinol (THC), in paediatric patients with Level II/III ASD. Participants were recruited from a tertiary paediatric neurology clinic and randomised to receive NTI164 up to 20 mg/kg/day or placebo for an 8-week double-blind phase; participants receiving placebo were able to receive NTI164 in an 8-week open label phase following the double-blind phase. Safety assessments, clinician-, and caregiver-rated tools measuring symptoms were utilised at baseline and Week 8. Analysis of Covariance (ANCOVA) was used for statistical analyses. NTI164 demonstrated an excellent safety profile, and statistically significant and meaningful improvements compared to placebo in overall clinical severity, adaptive functioning, social responsiveness, and affective symptoms. Caregivers also reported improved family experiences and quality of life with NTI164. Participants who transitioned from placebo to NTI164 open label reported similar improvements as those reported during the double-blind phase. NTI164 significantly improved core and associated symptoms of ASD compared to placebo. Consistent benefits reported by both clinicians and caregivers in both open label and double-blind contexts supports further clinical development of NTI164 in ASD.

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12. Khazaei S, Jenabi E, Behmanesh H. Maternal exposure to second-hand smoke during pregnancy and risk of autism spectrum disorder in offspring: A systematic review and meta-analysis. J Neonatal Perinatal Med. 2026: 19345798261475335.

BackgroundEmerging evidence suggests that environmental exposures during pregnancy may influence the risk of autism spectrum disorder (ASD) in offspring. Maternal exposure to second-hand smoke is a potentially modifiable risk factor, but previous studies have reported inconsistent findings. This is the first meta-analysis on the association between maternal second-hand smoke exposure during pregnancy and the risk of ASD in children.Materials and methodsA systematic search of the PubMed, Web of Science, and Scopus databases was conducted, covering articles published up to May 2, 2026, without language or publication date restrictions. Observational studies reporting odds ratios (ORs) for the association between maternal passive smoking during pregnancy and ASD diagnosis in offspring were included. Methodological quality was assessed using the Newcastle-Ottawa Scale. A random-effects model was used to calculate pooled ORs. Subgroup analysis was performed based on study design, and publication bias was evaluated using Begg’s and Egger’s tests.ResultsNine studies comprising 9,005 participants met the inclusion criteria. The pooled OR from adjusted studies demonstrated a statistically significant association between maternal second-hand smoke exposure during pregnancy and ASD risk (OR = 2.12; 95% CI: 1.59-2.66), indicating that exposed children had more than twice the risk of ASD compared to unexposed children.ConclusionsMaternal exposure to second-hand smoke during pregnancy was associated with increased odds of ASD in offspring. The findings highlight the importance of public health interventions aimed at reducing prenatal second-hand smoke exposure, including smoke-free legislation and smoking cessation counseling for pregnant women and their families.

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13. LeMoine JE, Frazier JA, Dadagian-Goldman B, Goodman L, Marshall K. Inclusive Co-Design of Augmented Reality Digital Helpers for Autistic Adolescents and Young Adults: A Study on Just-In-Time Augmented Reality Assistance. J Med Ext Real. 2025; 2(1): 303-14.

This study explored inclusive, augmented reality (AR) digital helpers as assistive technology that are codesigned by autistic adolescents and young adults. The study used a participatory design process and partnered with autistic adolescents and young adults to codesign AR digital helper prototypes. The findings indicated a positive impact from the codesign role for autistic participants and high enthusiasm for applied AR digital helpers from all participant groups. The study established new insights into AR digital helper characteristics and their perceived utility as helpers for autistic adolescents and young adults. This article presents a summary of the study’s methods, discusses its findings and limitations, and outlines potential future research goals.

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14. Ma T, Jia L, Feng A, Zhang Q, Li L, Qin Y, Hao S. Test-retest reliability of motion capture technology for assessing balance in children with autism spectrum disorder. Front Neurol. 2026; 17: 1821167.

BACKGROUND: Children with autism spectrum disorder (ASD) often show balance impairments that may affect motor development. Portable motion capture may provide quantitative balance indices, but its test-retest reliability in pediatric ASD remains unclear. RESEARCH QUESTION: This study evaluated seven-day test-retest reliability of a portable marker-based motion capture system for head-sway-derived balance indices in children with ASD and described exploratory unadjusted differences from typically developing (TD) children. METHODS: Twenty-two children (11 ASD, 11 TD) completed long-sitting, eyes-open standing, and eyes-closed standing balance tests using head-mounted reflective markers. Outcomes were mediolateral sway amplitude (Dx), anteroposterior sway amplitude (Dy), and 95% confidence ellipse area (Area). Reliability was assessed using intraclass correlation coefficients, standard error of measurement, and Bland-Altman plots. Between-group analyses were exploratory because the groups were not matched by age or sex. RESULTS: In children with ASD, Dy showed good reliability (ICC = 0.77-0.87; SEM = 1.98-3.19), with the highest reliability in long sitting (ICC = 0.87). Dx showed poor to moderate reliability (ICC = 0.45-0.69), and Area showed moderate to good reliability (ICC = 0.65-0.77). Exploratory comparisons showed larger sway values in the ASD group, but these results may reflect baseline age and sex differences. SIGNIFICANCE: The system reproducibly measured anteroposterior head-sway in children with ASD, particularly in long sitting. Further validation against reference balance measures and larger age- and sex-matched studies is needed before diagnostic or discriminative use.

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15. Mendes Ferreira V, Viana-Baptista M. Family history of cognitive impairment as a diagnostic clue in Fragile X-associated tremor/ataxia syndrome. BMJ Case Rep. 2026; 19(8).

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by premutation alleles (55-200 CGG repeats) in the FMR1 gene, typically presenting in later adulthood with intention tremor, cerebellar ataxia and cognitive impairment. We report a male patient in his 5th decade presenting with progressive bilateral action tremor initially suggestive of essential tremor. Neurological examination revealed postural and intention tremor with mild dysdiadochokinesia. A family history of early-onset cognitive decline in a first-degree relative prompted brain MRI, which demonstrated bilateral T2 hyperintensities of the middle cerebellar peduncles, suggestive of FXTAS. Subsequent genetic testing confirmed an FMR1 premutation with 115 CGG repeats, establishing the diagnosis of FXTAS. Review of the brother’s records revealed progressive cognitive impairment previously attributed to Alzheimer’s disease, raising the possibility of unrecognised FXTAS. This case highlights the importance of family history and neuroimaging in distinguishing FXTAS from more common tremor disorders and dementia syndromes.

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16. Oberman LM, Veatch OJ, Peters SU, Kaufmann WE. Profiles of sleep disturbances in Angelman, Prader-Willi, and Rett syndromes: analysis of standardized questionnaires. Front Neurol. 2026; 17: 1854819.

INTRODUCTION: Individuals with neurodevelopmental disorders (NDDs) are at increased risk of having sleep difficulties. A variety of sleep problems have been reported in Angelman syndrome (AS), Prader-Willi syndrome (PWS), and Rett syndrome (RTT). The present study intended to expand an earlier characterization of sleep difficulties in a large AS, PWS, and RTT sample by analyzing subscales of standardized sleep questionnaires. METHODS: Scores from children (2-18 years) with AS (n = 74), PWS (n = 90) or RTT (n = 241) on components of the Children’s Sleep Habits Questionnaire (CSHQ), the Sleep-Related Breathing Disorder (SRBD) scale, and the Pediatric Daytime Sleepiness Scale (PDSS) were compared between NDDs and with those from a group of neurotypical siblings (n = 282). Additional comparisons of scores after a 12-month follow-up evaluation, in a subset of individuals, were also performed. Data were analyzed using nonparametric tests and, for changes over time, both cross-sectionally and longitudinally. RESULTS: Comparisons with neurotypical children showed that night waking and snoring were increased in the three NDDs while parasomnias and daytime sleepiness only in AS and RTT. Children with RTT also had the highest scores on measures of disordered breathing. At the 12-month follow-up, scores decreased in neurotypical children but had variable courses in the NDDs, with increased disordered breathing scores characterizing AS and RTT. There was high agreement among disordered breathing measures, but not among daytime sleepiness scales. Overall, CSHQ scores were relatively stable within NDDs. CONCLUSION: Sleep questionnaires revealed disorder-specific profiles of sleep problems that could assist in their identification and management. The CSHQ and the SRBD, including their subscales, appear to be consistent measures particularly for sleep-disordered breathing and, therefore, suitable for clinical and research use in severe NDDs. Follow-up studies should expand the range of instruments to include objective measures in the characterization of sleep abnormalities in AS, PWS, and RTT.

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17. Poprelka K, Stavrogianni K, Tsalouchidou PE, Stefanatou M, Verentzioti A, Alexoudi A, Bonakis A, Gatzonis S. The Impact of Fragile X Syndrome on Caregivers: A Systematic Review. J Intellect Disabil Res. 2026.

BACKGROUND: The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well-being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research. METHODS: This review was conducted in accordance with PRISMA guidelines. A thorough search of electronic databases was performed to identify relevant original research. Two reviewers independently screened the studies for eligibility, and the quality of included studies was evaluated using the CASP tool. Key data were extracted, and a narrative synthesis was used to summarise and interpret the findings. RESULTS: Twenty studies involving 3474 caregivers of children, adolescents and adults with FXS were included in this review. Thirteen studies were conducted in the United States, with additional research in the United States and Canada, Italy, France, the Netherlands and Australia. Female caregivers were the primary participants in most studies. Six primary factors were identified as shaping caregivers’ experiences: care-recipients’ age and gender, caregivers’ characteristics, disease-related factors, compromised caregiver psychological well-being, disrupted family dynamics and limited support systems or unmet needs. Challenging behaviours in individuals with FXS consistently emerge as the factor exerting the greatest influence on caregivers’ psychological and practical burden. CONCLUSIONS: Caring for individuals with FXS places substantial burdens on caregivers, influenced by patient behaviour, family dynamics and limited support. Targeted, multidisciplinary interventions are needed to address these gaps and improve both caregiver well-being and care outcomes.

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18. Rodríguez-Vera D, Soriano-Ursúa MA, Pinto-Almazán R, Arciniega-Martínez IM, Reséndiz-Albor AA, Vergara-Castañeda A, Valadez-Vega C, Morales-González Á, Madrigal-Santillán EO, García-Machorro J, Ibañez-Cervantes G, Morales-González JA. Berberine as a modulator in autism: Insights into mechanisms of action and therapeutic potential. J Integr Med. 2026.

Autism spectrum disorder (ASD) is a broad neurodevelopmental disorder characterized by impairments in social communication and limited, repetitive patterns of behavior and interests. It is frequently associated with comorbidities, including gastrointestinal dysfunction, and immune and oxidative disturbances. Recent discoveries have revealed that nutritional therapies designed to target certain pathophysiological processes may serve as adjunctive treatments. Berberine is a natural isoquinoline alkaloid isolated from various medicinal herbs. It possesses anti-inflammatory and antioxidant activities and has demonstrated neuroprotective effects in preclinical models. Recent preclinical studies have shown that berberine may help modulate key pathways implicated in ASD, such as gut microbiota-brain axis, neuroinflammatory cascades, mitochondrial dysfunction and oxidative stress responses. Berberine can restore intestinal barrier integrity, suppress microglial activation, balance neurotransmitter systems, and regulate key signaling pathways including nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) and nuclear factor erythroid 2-related factor 2 (Nrf2), which is considered a plausible basis for investigating it as an adjunctive strategy for ASD-associated biological pathways. Moreover, the impact of berberine on the composition of gut microbiota may be associated with behavioral modulation and immune homeostasis. This review explores the mechanistic basis of berberine activity in ASD. Existing preclinical evidence and indirect clinical data suggest that berberine can be regarded as an adjunct intervention and a biological therapeutic approach targeting ASD-related biological pathways. However, current evidence remains preliminary and needs to be further validated in subsequent clinical studies. Please cite this article as: Rodríguez-Vera D, Soriano-Ursúa MA, Pinto-Almazán R, Arciniega-Martínez IM, Reséndiz-Albor AA, Vergara-Castañeda A, Valadez-Vega C, Morales-González Á, Madrigal-Santillán EO, García-Machorro J, Ibañez-Cervantes G, Morales-González JA. Berberine as a modulator in autism: Insights into mechanisms of action and therapeutic potential. J Integr Med. 2026; Epub ahead of print.

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19. So WC, Li XH. Intervention Deploying an Autonomous Robot Promotes Eye Gaze Abilities of Autistic Children: Comparison With a Human-Based Intervention. Autism Dev Lang Impair. 2026; 11: 23969415261476472.

BACKGROUND & AIMS: Autistic children have difficulties establishing and maintaining eye contact. Previous interventions for eye gaze rely on human professionals, who may be too costly or even inaccessible to many families of autistic children. These challenges have led to the application of technology, such as social robots, the use of which in autism therapy is theory-driven. Thus, the present study examined whether robot-based intervention (RBI) and human-based intervention (HBI) improved autistic children’s eye gaze. METHODS: In this randomized controlled trial study, 121 Chinese-speaking autistic children aged 4-9 years (34 females) participated and were randomly assigned to three conditions: RBI, HBI, and waitlist control. The robot/human experimenter narrated stories while detecting the eye gaze of the autistic children. They prompted the child if he/she lost eye contact with the robot/human continuously for more than 5 s. Children’s eye gaze abilities were evaluated in both the experimental setting and parental report. RESULTS: Our experimental data showed that the children in the RBI had their eye gaze improved 1 month after the intervention. Their parents also perceived their autistic children to have better eye contact immediately and 1 month after intervention. Parents of the children in the HBI reported an improvement in eye gaze 1 month after intervention, which was not evident in the experimental setting. Children in the waitlist group did not show any improvement. CONCLUSION: The present study showed that RBI could promote the eye gaze of autistic children under the conditions studied. IMPLICATION: Our innovative design for RBI addresses clinicians’ concerns about the capacity to interact with autistic children in real time. Specific hands-on training workshops should be offered to enhance clinicians’ knowledge and skills in using robots in the clinical context.This randomized controlled trial was registered with the Chinese Clinical Trial Registry (no. ChiCTR2300073238).

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20. Whelan S, BeVier A, Cawley M, Mannion A, Gacquin A, Wood A, Barrett E, Moroney É, Leader G. Examining the use of extended reality to improve the adaptive behavior of autistic people: a systematic review. Disabil Rehabil Assist Technol. 2026: 1-35.

PURPOSE: To systematically review the use of Extended Reality (XR) as an assistive technology for improving adaptive behaviour in autistic individuals. METHODS: Databases were systematically searched, and eligibility criteria were used to select items; ACM Digital Library, IEEE Xplore, PsycINFO, PubMed, Web of Science, Scopus, Google Scholar and ProQuest were systematically searched. Inclusion criteria required empirical studies (2000-2025) involving autistic individuals and XR (i.e. virtual reality (VR) and augmented reality (AR) interventions targeting adaptive behaviour. Data extraction included study location, design, participant characteristics, adaptive behaviour domains addressed, XR technology and level of immersion, research methods, main findings and quality appraisal scores using the Quality Assessment for Diverse Studies (QuADS) tool. The review followed PRISMA guidelines. RESULTS: Forty-five studies were included in the final review. XR interventions most frequently targeted social understanding and practical skills such as shopping and transportation. Immersive VR (head-mounted displays) and non-immersive desktop/mobile systems both demonstrated feasibility and effectiveness. Sessions longer than 20 min and repeated over multiple weeks were most effective. Limitations across the evidence base included small, single-site samples, limited participant diversity, brief follow-up and occasional technical instability; overall QuADS ratings indicated moderate methodological quality. CONCLUSION: XR shows strong potential as an assistive technology to enhance adaptive behaviour, particularly in social and daily living skills, among autistic individuals. Future work should involve stakeholder co-design and assess generalisability across diverse populations. XR is a feasible, acceptable, and effective assistive technology for enhancing adaptive behaviours in autistic individuals, particularly in social and daily living domains. Rehabilitation professionals should consider implementing VR-based sessions of at least 20 min, repeated over multiple weeks, to support skill acquisition and retention. XR tools should be matched to the task and the individual’s needs. For example, immersive HMD/CAVE may be particularly suitable for spatial/context-rich tasks such as transport and community navigation, whereas VR/AR or tabletop MR may be appropriate for practising concrete routines with younger learners, such as toothbrushing and dressing. XR provides a safe, controlled environment that complements traditional therapies while allowing personalised and engaging practice. Involving autistic individuals, families and clinicians in co-design is essential to improve usability, acceptability and long-term effectiveness. eng.

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21. Yang L. Embedding Child-Centred Information in Developmental Care Pathways for Autistic Children: A Response to Albin et al. Autism. 2026: 13623613261470852.

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