1. Apanasionok MM, Paris A, Griffin J, Hastings RP, Finch E, Austin D, Flynn S. Digital Psychological Wellbeing Interventions for Family Carers of Children and Adults With Intellectual and Developmental Disabilities: A Systematic Review. J Appl Res Intellect Disabil;2025 (Jul);38(4):e70081.

BACKGROUND: This review explored (1) what digital psychological wellbeing interventions for family carers of people with intellectual and developmental disabilities were reported in the literature, (2) evidence about their effectiveness, (3) factors affecting their implementation and (4) experiences of family carers who attend them. METHODS: Seven databases were searched using search terms related to intellectual and developmental disabilities, carer role, wellbeing and digital delivery formats. Data from 23 studies were synthesised narratively. RESULTS: Identified interventions were categorised in five broad groups: mind-body, relaxation, mindfulness and acceptance; psychoeducation and support groups; positive thinking and self-compassion; spiritual; and expressive writing. Only 43% of included studies met seven (100%) or six (85%) quality indicators based on the Mixed Methods Appraisal Tool. CONCLUSIONS: There is a developing literature on digital interventions for family carers of people with intellectual and developmental disabilities. Digital supports will likely become more important with continuing technological advances and increasing need.

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2. Bjerkreim H, Thorbjørnsen BL, Nærland T, Drolsum L, Kristianslund O. Nationwide study of the association between keratoconus and autism spectrum disorder. J Cataract Refract Surg;2025 (Jul 11)

PURPOSE: To examine whether there was an association between keratoconus and autism spectrum disorder (ASD) in Norway and compare to the general population. SETTING: The total population of Norway, including all individuals with ASD and keratoconus. DESIGN: Cross-sectional epidemiological study. METHODS: Data was obtained from the Norwegian Patient Registry, which provides information from all publicly-funded specialist care. The keratoconus prevalence among persons with ASD, was estimated from the total number of individuals with keratoconus in the period 2010-2019, and compared to the prevalence in the general population of Norway during the same time period. RESULTS: A population-based sample in Norway identified 23 763 persons with ASD, equivalent to 0.5% of the population, and of these 115 (0.5%) had a diagnosis of keratoconus. The average age at keratoconus diagnosis among individuals with ASD was 27.3 years, and 83.5% of those diagnosed with both ASD and keratoconus were men. During the same time period, the prevalence of keratoconus in the general population of Norway was 0.2%, resulting in an odds ratio of 2.5 (95% CI: 2.0-3.0). CONCLUSION: Based on our findings, people with ASD have significantly higher prevalence of keratoconus compared to the general population of Norway. This implicates that one should have increased awareness for keratoconus and low threshold for corneal tomography in patients with ASD.

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3. Burrows CA, Elison JT, Piven J. Mitigating sex-related biases to elucidate the autism phenotype. Biol Psychiatry;2025 (Jul 11)

Autism spectrum disorder (ASD) is commonly considered a male-dominant condition, with epidemiological estimates finding that approximately 3-4 males are diagnosed for every female. An overwhelming majority of studies used to establish this sex ratio were conducted with participants ascertained based on having first met clinical criteria, which may obscure qualitative differences between males and females, and omits females who do not meet male-biased criteria. Our recently published data, which used a prospectively-identified sample of children at high-familial likelihood for ASD, corrected for sex-based measurement bias, and used data-driven groupings of behavior over time, were well-suited to address this issue and suggest the male-to-female ratio of autism-related concerns is closer to 1:1. In this review, we propose that research is needed that characterizes the autism phenotype, or behavioral expression of underlying genetic variation in autism-relevant traits. We describe shifts in sample ascertainment, methodological rigor, and scope of traits examined that may help elucidate the autism phenotype. A research program focusing on delineating the genetically-related, biological determinants of clinical disorders has the potential to reveal the full expression of underlying genetic liability for ASD and improve early identification of ASD-related concerns in females.

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4. Fassina G, Annunziata S, Brivio M, Santos L, Ambrosini E, Cavallini A, Pedrocchi A. Effectiveness and Adherence of a Robot-Enhanced Imitation Therapy in Autistic Children. IEEE Int Conf Rehabil Robot;2025 (May);2025:1083-1088.

Robot-Enhanced Therapies (RET) are gaining recognition in autism interventions, though limited empirical evaluations of their effectiveness exist. This study introduces a novel RET focused on imitation training to promote social skills, incorporating gestures from children’s songs to enhance engagement. This work presents preliminary findings from eight autistic children who underwent a 12 -week intervention, assessing improvements in adaptive abilities using the Adaptive Behavioral Assessment Scale (ABAS-II) and Primo Vocabolario del Bambino (PVB), with the Social Adaptive Domain (SAD) of ABAS-II as the primary outcome. Treatment adherence is measured as the proportion of correctly imitated gestures, which is also quantified by leveraging a CNN-based gesture recognition algorithm. While results show overall trends of improvement, the primary outcome does not reach statistically significant. However, adherence was significantly higher in subjects with improved social skills, underscoring the importance of active participation The gesture recognition algorithm achieved an F1-score of 0.57. While findings are promising, the comparison with a control group will permit differentiating the outcomes of the therapy protocol and the developmental trajectory. Future efforts should focus on improving the gesture-imitation algorithm and refining adherence assessment tools.

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5. Gulzar MM, Sarani ZA, Tariq M, Knerr I. 3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. BMJ Case Rep;2025 (Jul 10);18(7)

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (3-MCC-D) is an autosomal recessive disorder with a variable phenotype. Reduced 3-MCC enzyme activity results in impaired leucine metabolism causing, for example, metabolic acidosis, ketotic hypoglycaemia and carnitine deficiency. The spectrum of clinical presentation is wide, ranging from severe early-onset presentations to incidental findings in asymptomatic individuals. This report describes the case of a young girl who underwent dramatic developmental regression at 11 months of age, following a respiratory tract infection. Metabolic investigations revealed high excretions of urinary 3-methylcrotonylglycine and 3-hydroxyisovaleric acid, consistent with 3-MCC-D. Treatment was commenced immediately, including carnitine, biotin and moderate dietetic modifications. Molecular genetic investigations confirmed compound heterozygosity for two pathogenic variants in the MCCC1 gene, Trp358Cysfs*13 and duplication of exons 2 and 3. Now in middle childhood, the girl is meeting all her developmental milestones and has had no metabolic decompensation in 6 years of follow-up.

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6. He Y, Li J, Zheng W, Liu J, Dong Z, Yang L, Tang S, Zou Y, Gao T, Yang Y, Mo Z, Wang S, He Y, Tang C, Luo J, Zhao J, Guo G, Li H, Xiao L. Hypomyelination in autism-associated neuroligin-3 mutant mice impairs parvalbumin interneuron excitability, gamma oscillations, and sensory discrimination. Nat Commun;2025 (Jul 10);16(1):6382.

Whether and how myelin plasticity, an emerging new form of brain plasticity, is involved in autism spectrum disorder (ASD) remains unknown. Here, we identify deficits in oligodendrocyte (OL) generation and myelination in the barrel cortex (BC) of the male NL3-R451C-KI mouse model of ASD. These mice also show impaired texture recognition, disrupted gamma neuronal oscillations, and reduced excitability and myelination level in the BC-PV interneuron. These abnormalities can be rescued by a promyelinating strategy and are recapitulated by genetic blockade of myelination in Myrf-cKO mice. Furthermore, OL progenitor-specific conditional NL3 knockout mice show similar deficits in BC-PV interneuron myelination and excitability, as well as neuronal oscillation and texture recognition, closely resembling the NL3-R451C-KI phenotype. Collectively, these results demonstrate that NL3 mutations commonly cause hypomyelination and reduced excitability in BC-PV interneurons, disrupting neuronal oscillation and contributing to ASD-like sensory dysfunction. Our finding reveals a mechanism underlying ASD and highlights OLs/myelin as potential therapeutic targets for ASD.

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7. Hu C, Li H, Cui J, Li Y, Zhang F, Li H, Luo X, Hao Y. Integrative analysis identifies IL-6/JUN/MMP-9 pathway destroyed blood-brain-barrier in autism mice via machine learning and bioinformatic analysis. Transl Psychiatry;2025 (Jul 11);15(1):239.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by social communication deficits and restricted, repetitive behaviors. Growing evidence implicates neuroinflammation-induced blood-brain barrier (BBB) dysfunction as a key pathogenic mechanism in ASD, although the underlying molecular pathways remain poorly understood. This study aimed to identify critical genes linking BBB function and neuroinflammatory activation, with the ultimate goal of evaluating potential therapeutic targets. Through integrative analysis combining differential gene expression profiling with three machine learning algorithms – Least Absolute Shrinkage and Selection Operator (LASSO) regression, Support Vector Machine Recursive Feature Elimination (SVM-RFE), and RandomForest combined with eXtreme Gradient Boosting (XGBoost) – we identified four hub genes, with JUN emerging as a core regulator. JUN demonstrated strong associations with both BBB integrity and microglial activation in ASD pathogenesis. Using a maternal immune activation (MIA) mouse model of ASD, we observed significant downregulation of cortical tight junction proteins ZO-1 and occludin, confirmed through immunofluorescence and qPCR analysis. Bioinformatics analysis revealed a close correlation between JUN and IL-6/MMP-9 signaling in ASD-associated microglial activation. These findings were validated in vivo, with immunofluorescence and qPCR demonstrating elevated IL-6 and MMP-9 expression in ASD mice. Pharmacological intervention using ventricular JNK inhibitor administration effectively downregulated JUN and MMP-9 expression. In vitro studies using IL-6-stimulated BV-2 microglial cells replicated these findings, showing JNK inhibitor-mediated suppression of JUN and MMP-9 upregulation. These results collectively identify the IL-6/JUN/MMP-9 pathway as a specific mediator of barrier dysfunction in ASD, representing a promising target for personalized therapeutic interventions.

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8. Hudry K, Chetcuti L, Tan DW, Clark A, Aulich A, Bent CA, Green CC, Smith J, Fordyce K, Ninomiya M, Saito A, Hakoshima S, Whitehouse AJO. Accuracy of a 2-minute eye-tracking assessment to differentiate young children with and without autism. Mol Autism;2025 (Jul 10);16(1):36.

BACKGROUND: Eye-tracking could expedite autism identification/diagnosis through standardisation and objectivity. We tested whether Gazefinder autism assessment, with Classification Algorithm derived from gaze fixation durations, would have good accuracy (area under the curve [AUC] ≥ 0.80) to differentiate 2-4-year-old autistic from non-autistic children. METHODS: Community sampling (March 2019-March 2021) of 2:00–4:11 year-olds included children recruited into a diagnosed Autism Group (‘cases’) and Non-Autism ‘Control’ Group (with likely undiagnosed autism minimised). We recruited well beyond minimum necessary sample size to ensure within-group heterogeneity and allow exploratory subgroup analysis. Alongside Gazefinder eye-tracking attempted with all recruited participants, we collected parent-report measures for all children, and clinical/behavioural measures with autistic children. RESULTS: 102 autistic (81.4% male; M(age)= 44mths; SD = 8.8) and 101 non-autistic children (57.4% male; M = 40; SD = 10.5) were recruited and eligible; the former slightly older, proportionately more male, and reflecting greater socio-demographic diversity. Gazefinder autism assessment was completed with 101 non-autistic children (n = 1 returning minimal data), and attempted with 100- and completed with 96 autistic children (n = 2 not attempted following adverse responses to clinical testing; n = 4 attempted but unable to calibrate). The Non-Autism Group returned significantly more overall tracking data. The final Classification Algorithm (range 0-100; threshold score = 28.6)—derived from n = 196 children’s fixation durations to elements of social/non-social scenes, human face presentations, and referential attention trials—had AUC = 0.82 (sensitivity = 0.82, specificity = 0.70). Compared to those correctly classified, autistic children misclassified as ‘controls’ showed greater overall tracking, and less pronounced autism features and developmental disability. Compared to correctly classified non-autistic children, those misclassified as ‘cases’ were older with lower overall tracking. LIMITATIONS: Our groups differed on socio-demographic characteristics and overall tracking (included within the Classification Algorithm). We used the ‘Scene 10A’ stimulus set as provided, without update/modification. Industry employees who developed the final Algorithm were non-blinded to child group, and considered only gaze fixation durations. Community sampling and ‘case-control’ design—comparing diagnosed autistic vs. non-autistic children—could be improved via future referral-based recruitment. CONCLUSIONS: Most children tolerated Gazefinder autism assessment, and our Classification Algorithm properties approached those reported from other Gazefinder use and established clinical assessments. Independent replication is required, and research informing the most suitable clinical application of this technology. TRIAL REGISTRATION: ACTRN12619000317190 SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00670-4.

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9. Leahy C, Major S, Howard J, Carpenter KLH, Tenenbaum E, Franz L, Vermeer S, Grapel J, Compton S, Spanos M, Dawson G. Attentional and electrophysiological associations with executive function ability in young autistic children. Sci Rep;2025 (Jul 10);15(1):24883.

Difficulties in executive functioning (EF) have been consistently reported in autistic individuals, but less is known about the attentional and neural mechanisms driving these difficulties. We explored the associations between EF abilities and sustained attention, measured with eye-tracking, and spontaneous measures of EEG spectral power density in 176 2-8 year-old autistic children with a wide range of cognitive abilities. EF was measured using the Behavior Rating Inventory of Executive Function (BRIEF). We found that EF abilities were positively associated with look durations while watching complex, audiovisual stimuli involving social content and dyadic speech. We also found that EF was negatively associated with scalp-wide theta power and positively associated with frontal beta and gamma power. These results shed light on attentional and neural associations with EF abilities and underscore the role of frontal brain activity for EF in autism.

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10. Lotito MCF, Pinto ACT, Alves LC, Barbosa MA, Ferreira DC, Portela MB, Pereira AF, Tavares-Silva CM, Pastura G, de Araújo Castro GFB. Autism Spectrum Disorder: Sleep Characteristics in Children and Adolescents, and Their Relationship with Probable Sleep Bruxism, Anxiety, and Cortisol and Melatonin Levels-A Cross-Sectional Study of Children in Brazil. J Autism Dev Disord;2025 (Jul 10)

The study described the sleep characteristics (SC) of children/adolescents with Autism Spectrum Disorder (ASD), and examined their association with medication use, support level, chronotype, probable sleep bruxism (PSB), anxiety, salivary levels of cortisol (SalC) and melatonin (SalM). Methods: Following anamnesis and dental examination, anxiety was assessed using the SCARED questionnaire. The SCs were determined by two age-appropriate questionnaires, and the percentage of negative SCs (%Neg) was recorded. Saliva samples were collected to measure SalC and SalM levels. The sample comprised 85 ASD patients aged 2-16 years, of whom 80%, 50.6% were classified as support level 2, 83.5% used medication, 84.7% had an afternoon chronotype, 72.9% presented PSB, and 48.2%, anxiety. The mean %Neg was significantly higher in patients using medication (49.29 ± 15.88; p = 0.03) and those requiring more support (level 1: 41.57 ± 14.45; level 2: 50.78 ± 15.54; level 3: 55.11 ± 23.44; p = 0.019). Patients with anxiety showed a higher %Neg (51.31 ± 16.33) than those without anxiety (43.65 ± 15.79). The mean SalC and SalM levels were 13.29 ± 13.39 and 299.91 ± 241.77, respectively.. In children aged 2-6 years, one rhythmicity SC and two separation-related SCs were associated with SalC (p < 0.05); lower SalM levels were found in patients who "slept alone" (p = 0.02). In older patients, "moving while sleeping" was associated with lower SalC (p = 0.05), and three additional SCs were linked to reduced SalM levels (p < 0.05). The presence of negative SCs in ASD patients was more common in those taking medication, requiring more support, and presenting anxiety. Furthermore, SalC and SalM levels were associated with specific SCs, especially among individuals aged (7-16).

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11. Park JC, Sim MA, Lee C, Park HE, Lee J, Choi SY, Byun S, Ko H, Lee H, Kim SW, Noh J, Park G, Lee S, Kim TK, Im SH. Gut microbiota and brain-resident CD4(+) T cells shape behavioral outcomes in autism spectrum disorder. Nat Commun;2025 (Jul 11);16(1):6422.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by alterations in social, repetitive, and anxiety-like behaviors. While emerging evidence suggest a gut-brain etiology in ASD, the underlying mechanisms remain unclear. To dissect this axis, we developed a germ-free BTBR mouse model for ASD. The absence of gut microbiota in male mice ameliorates ASD-associated behaviors and reduces populations of inflammatory brain-resident T cells. Additionally, CD4(+) T cell depletion mitigates neuroinflammation and ASD behaviors, suggesting a gut-immune-brain axis. We identify several microbial and metabolic regulators of ASD, particularly those relevant to the glutamate/GABA ratio and 3-hydroxyglutaric acid. Using an in silico metabolite prediction model, we propose Limosilactobacillus reuteri IMB015 (IMB015) to be a probiotic candidate. Administration of IMB015 reduces the glutamate/GABA ratio and neuroinflammation, resulting in improved behaviors. Here we report a gut-immune-brain axis in which the gut microbiota and its metabolites can modulate brain-resident immune cells and ASD-associated behaviors.

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12. Poletti M, Preti A, Raballo A. Debate: Are we over-pathologizing young people’s mental health? The inflationary risk of autism diagnosis. Child Adolesc Ment Health;2025 (Jul 11)

The concept of autism has undergone a significant transformation in recent decades, evolving from a narrowly defined, rare disorder into a broad and heterogeneous spectrum. This diagnostic expansion, while intended to improve recognition of diverse presentations, has led to a marked increase in prevalence and a dilution of autism’s neurobiological distinctiveness. Two emerging trends may further contribute to this phenomenon: the rise in adult diagnoses without documented childhood traits, and the growing attribution of transdiagnostic social difficulties to subthreshold autistic traits. These trends risk conflating autism with general social dysfunction and undermining the validity of related clinical constructs. The diagnostic inflation of ASD may reflect a problematic overextension of criteria, compounded by the use of unstructured assessments and amplified by the growing influence of neurodiversity discourse. Moreover, it is facilitated by the absence of definitive neurobiological markers and remains at odds with autism’s characterization as a neurodevelopmental condition with strong genetic roots. Whether this expansive reconceptualization constitutes progress or regression warrants deeper scientific debate.

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13. Pollard N, Christensen L, Kloster H, Gerber D, Chödrön G. Integrating Lived Experience Into Medical Education Related to Children With Medical Complexity or Developmental Disabilities: Protocol for a Scoping Review. JMIR Res Protoc;2025 (Jul 11);14:e64911.

BACKGROUND: Involving people with lived experience in medical education can benefit them, their caregivers, and medical students, and may particularly impact medical education about children requiring comprehensive, individualized, multidisciplinary care, including those with medical complexity or developmental disabilities. Yet, there is no summary of how children with medical complexity or developmental disabilities, or their families or caregivers have been included in medical education for medical students, residents, and fellows. To advance the effective inclusion of lived experience in medical education related to this patient population, a synthesis of existing literature is needed. OBJECTIVE: This scoping review aims to identify and synthesize the literature on including the lived experiences of children with medical complexity or developmental disabilities and their caregivers in medical education, where in the curricular development process they are involved, and the level of engagement of people with lived experience in the process. METHODS: To complete the scoping review, MEDLINE, Scopus, PsycINFO, ERIC, Academic Search Premier, and Google Scholar were searched for studies investigating patient and caregiver involvement in medical education related to children with medical complexity or developmental disabilities. Studies involving continuing professional development or patients who are not children with medical complexity or developmental disabilities were excluded. Data will be extracted to identify the stage of curriculum development in which lived experience is included based on Kern’s 6-step approach, and to examine the level of engagement in medical education of children with medical complexity or developmental disabilities, their families, or their caregivers. Data from the scoping review will be presented in tables, diagrams, or matrices to demonstrate how lived experience caring for children with medical complexity or children with developmental disabilities has been included in the 6 steps of curriculum development and to characterize the level of engagement of people with lived experience in this process. Descriptive analysis will be performed to identify the findings from the included sources pertaining to the research objective. RESULTS: Database searches were completed on April 19, 2024. In total, 4382 unique articles were identified and screened against the eligibility criteria in July 2024, resulting in 30 articles being included in the scoping review. Data extraction began in July 2024. CONCLUSIONS: Our results will identify areas of improvement for medical education pertaining to the care of children with medical complexity or developmental disabilities. The findings will support and contribute to the development of medical school curricula surrounding care for children with medical complexity and children with developmental disabilities that incorporate people with lived experience in crucial roles during curriculum development. These partnerships with people with lived experience will promote more patient- and family-centered physicians, leading to better care of children with medical complexity and children with developmental disabilities. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/64911.

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14. Radford H, Reidinger B, Kapp SK, de Marchena A. « There is just too much going on there »: Nonverbal communication experiences of autistic adults. PLoS One;2025;20(7):e0325465.

BACKGROUND: Atypical nonverbal communication is required for a diagnosis of autism, yet little is known about how autistic adults use gestures, facial expressions, and other nonverbal behaviours in social interactions, especially from autistic adults’ perspectives. The objectives of this study were to understand: (1) autistic adults’ experiences of using nonverbal communication in interactions, (2) how nonverbal communication impacts autistic people’s lives, and (3) how autistic adults manage nonverbal communication differences. METHODS: 27 threads from the internet discussion forum wrongplanet.net, all containing dialogue focused on nonverbal communication, were subjected to qualitative analysis. Inductive and deductive coding were used to identify excerpts relevant to miscommunication experiences, communication strengths, and compensatory strategies. A total of 362 excerpts were coded (kappa = .79). Coded excerpts were then extracted and examined for themes, using member checking. RESULTS: Major themes included: (1) Cognitive differences resulting in autistic adults requiring more time and energy to manage nonverbal communication in interactions; (2) Miscommunication related to nonverbal communication is bilateral; (3) Nonverbal communication differences can negatively impact the lives and wellbeing of autistic adults; (4) autistic adults use a range of skills and strategies to manage nonverbal communication; and (5) Autistic adults demonstrate variability in the production and interpretation of nonverbal cues. CONCLUSION: Several of our themes, including mutual miscommunication and negative impacts of atypical communication, are consistent with previous qualitative work on communication experiences of autistic adults. The current findings provide new insight into the internal and external factors influencing the nonverbal communication experiences of autistic adults, in particular the cognitive processes involved. We advocate for solutions that shift the responsibility for effective communication onto all members of society. For example, sharing and accepting preferred communication modalities, and checking in about whether a message was received correctly instead of making assumptions.

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15. Santos J. Expanding the neurodevelopmental relevance of the SC-VTA pathway in autism spectrum disorder. Mol Psychiatry;2025 (Jul 10)

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16. Valkanas H, McFadden K, Mignacca I, Qi X, Jordan M, Bayoumi I, Li P. Impact of the COVID-19 era on preventative primary care for children 0-5 years old: a scoping review. BMC Prim Care;2025 (Jul 11);26(1):221.

BACKGROUND: Restrictions to routine preventative primary care well child visits (WCV) during COVID-19 may have affected a variety of outcomes for young children including growth, development, and the identification and management of developmental delays. To better understand the effect of the pandemic on these outcomes, we conducted a scoping review of studies published between March 2020 and April 2024. The objectives of this scoping review were to determine the impact of the COVID-19 era on WCV attendance and developmental outcomes in children 0-5 years old. RESULTS: 23 articles met inclusion criteria. Most studies were conducted in the U.S. The overall COVID-19 era WCV rate was lower compared to pre-COVID visit rates. Higher rates of missed WCVs and reduced access were reported for racialized children and those from families with lower socioeconomic status. Studies measuring developmental outcomes found associations between children born during the pandemic and increased rates of expressive language delays, decreased personal-social skills, increased delays in achieving verbal, motor, and overall cognitive performance milestones, increased externalizing behaviours, and decreased prosocial behaviour. No study examined the impact of WCV attendance rates on developmental outcomes. CONCLUSIONS: During the COVID-19 pandemic, infants, toddlers, and young children attended fewer preventative primary care visits and pandemic-born children were more likely to show signs of developmental delay. This review highlights the need for further research to better understand the longitudinal impact of reduced access to preventative primary care and child health outcomes, including the early detection of, and referral for, developmental delays.

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17. Wang Z, Zhao Y, Yang S, Wang Y, Wang L. Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations. Genet Res (Camb);2025;2025:5724454.

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single-nucleotide variations (SNVs) and InDels, in ASD genetic diagnostics. Here, we performed WES on 50 Chinese children with ASD who tested negative for copy number variants (CNVs). The analysis achieved a diagnostic yield of 10% (5/50 cases). All SNVs and InDels were loss-of-function (LOF) and were slightly more frequent among females (male vs. female: 9.3% vs. 14.3%). A total of five causative genes (PRODH9, PTEN, DEPDC5, SATB2, and CYFIP1) were identified in this study. Variants in ASD-associated genes (CHD8, FOXP1, and SHANK1) and genes linked to other neurodevelopmental disorders (CDH15, GATAD2B, and SHROOM4) were also detected. Despite the small sample size, our findings contribute partially to the dataset on the phenotype and genetic etiology of ASD and underscore WES as a critical tool for elucidating genetic etiologies in CNV-negative ASD cohorts.

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18. Wankhade T, Thakre N, Tadas M, Katariya R, Umekar M, Kotagale N, Taksande B. Sex-specific neuroprotection: Does BDNF shield girls from autism?. Mol Cell Neurosci;2025 (Jul 8):104028.

Autism Spectrum Disorder (ASD) exhibits a clear male bias, with males being approximately four times more likely to be affected than females. This difference has sparked curiosity about possible neurological elements that provide protection to females. One such neurological element that has shown promise is brain-derived neurotrophic factor (BDNF), essential for neuronal development, synaptic plasticity, and neuroprotection. ASD may be less common in females due to increased BDNF levels, which may be influenced by sex-specific epigenetic control and estrogen hormone. Research studies indicate that increased baseline BDNF in females promotes neurodevelopmental resilience and mitigates the environmental and genetic risk factors linked to ASD. Also, this protective impact may be enhanced by the regulatory function of estrogen in BDNF expression and the interaction of BDNF with X-linked genes. The processes by which BDNF contributes to sex differences are still not well understood despite strong evidence. Interpreting results is made more difficult by the variability of ASD symptoms and variations in study methodologies. In addition to that, it is yet unknown whether increased BDNF levels represent compensatory processes or actually provide protection. Longitudinal studies that monitor BDNF expression across developmental stages and look at sex-specific treatment approaches that target BDNF pathways should be the main focus of future research. Thus, a thorough understanding of how BDNF prevents sex differences in ASD may pave the way for innovative strategies destined to diminish the risk of ASD. In this milieu, this review explores the current research, highlighting the complex relationship between sex differences, BDNF, and the incidence of ASD.

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19. Wechsler DL, Jones EJH, Pasco G, Bazelmans T, Begum-Ali J, Johnson MH, Charman T. Parent-child similarity on autism and ADHD traits and children’s social functioning and psychological well-being at 3 years. J Child Psychol Psychiatry;2025 (Jul 11)

BACKGROUND: There is a pressing need for research on neurodevelopmental conditions to focus on predictors of resilient or positive outcomes, rather than core symptoms and impairment. One promising avenue is to consider whether child-parent similarity contributes to a protective family environment. For instance, investigations of the similarity-fit hypothesis have shown that parent-child attention-deficit/hyperactivity disorder (ADHD) trait similarity is associated with more favourable parent or child ratings of parenting and parent-child interaction. However, very little similarity-fit research has focused on autism, and none to date has investigated whether parent-child trait similarity is more broadly predictive of children’s outcomes beyond parent-child interaction. We assessed whether parent-child autism and ADHD trait similarity predicted children’s social functioning and psychological well-being in early childhood in a family history cohort. METHODS: Our analytic sample comprised 222 children (45.5% female) and their parents from a longitudinal family history (autism and/or ADHD) cohort. A novel parent-child trait similarity measure was computed for autism and ADHD traits in each parent-child pair, and robust hierarchical regression was used to assess whether mother-child and father-child autism and ADHD similarity predicted children’s social functioning and psychological well-being at age 3 years, after accounting for the main effects of parent and child traits. RESULTS: Mother-child autism trait similarity positively predicted both social functioning and psychological well-being in children, while mother-child ADHD trait similarity positively predicted children’s social functioning (but not well-being). Furthermore, father-child autism trait similarity positively predicted children’s social functioning, though it fell just short of statistical significance in outlier-robust regression. CONCLUSIONS: Our findings suggest that parent-child neurodevelopmental trait similarity may act as a protective or promotive factor for children’s early social functioning and psychological well-being. Further work is warranted to determine whether there are similar effects in later childhood and to investigate the potential mechanisms underlying similarity-fit effects on children’s outcomes.

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20. Yang F, Chen R, Xiong J, Liu B. Disease Burden of Autism Spectrum Disorder and Attention – Deficit/Hyperactivity Disorder in the 0-14 Age Group across 204 Countries and Regions from 1990 To 2021. Child Psychiatry Hum Dev;2025 (Jul 11)

This study aims to systematically analyze the disease burden of Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) in children aged 0-14 years, utilizing data from the Global Burden of Disease (GBD) 2021 database. By examining their temporal trends, regional distributions, and demographic differences, the study seeks to elucidate the epidemiological similarities and differences between the two disorders, thereby providing a scientific foundation for the development of prevention, diagnosis, and treatment strategies. This study, based on GBD 2021 data, analyzed the incidence, prevalence, and disability-adjusted life years (DALY) of ASD and ADHD globally from 1990 to 2021. The research employed age-standardized rates (ASR) to eliminate the influence of population age structure and explored the contributions of epidemiological changes, including population size, aging, as well as disease incidence, prevalence, mortality, and risk factors, to DALY through decomposition analysis. Additionally, the study performed an analysis of health inequalities, conducted a frontier analysis, and predicted future trends utilizing the Bayesian Age-Period-Cohort (BAPC) model. In 2021, the prevalence of ASD among the global population aged 0-14 years was 857.14 cases per 100,000 individuals (95% UI: 723.16-1009.04), while the prevalence of ADHD was 1,661.61 cases per 100,000 individuals (95% UI: 1,128.43-2,414.83). Within this age group, the DALY for ASD were 3,318,058 (95% UI: 2,248,324-4,668,010), compared to 410,705 (95% UI: 209,548-714,682) for ADHD. The DALY burden for ASD was higher than that for ADHD. These two disorders exhibit differences in gender and age distribution, with higher incidence rates and DALY values observed in males. Projections indicate that from 2021 to 2050, the DALY for both ASD and ADHD in the 0-14 age group are expected to show an upward trend.

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21. Zhao F, Sun L, Hu W, Zhang H. A novel mutation in the DYNC1H1 gene causing developmental and epileptic encephalopathy treated with ketogenic diet: A case report. Medicine (Baltimore);2025 (Jul 11);104(28):e43277.

RATIONALE: DYNC1H1 variants are associated with a spectrum of neurodevelopmental disorders, such as spinal muscular atrophy, severe intellectual disability, and epileptic encephalopathies, with the majority of observed cases attributed to de novo variants. PATIENT CONCERN: A 1-year-old Chinese boy presented with frequent seizures and developmental delay. DIAGNOSES: Cranial magnetic resonance imaging revealed malformations of cortical development. EEG indicated epileptic spasms and focal to bilateral tonic-clonic seizures. Trio-WES identified a de novo missense variant (c.3371A > G) located in exon 14 of the DYNC1H1 gene, which was confirmed by Sanger sequence. The final diagnoses were « DYNC1H1-related developmental and epileptic encephalopathy; malformations of cortical development. » INTERVENTION: Initial treatment with various ASMs proved ineffective. Finally, ketogenic diet treatment was introduced. OUTCOMES: The patient had achieved significant seizure control, and the follow-up EEG discharges were reduced. LESSONS: This report expanded the genotypic spectrum of DYNC1H1 gene, and highlights the potential therapeutic option of ketogenic diet for DYNC1H1-related developmental and epileptic encephalopathy, particularly in cases refractory to ASMs. These findings contribute valuable insights for the precision medicine approach in treating such patients.

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