Pubmed du 04/04/25

Pubmed du jour

1. Al-Haddad BJS, Olson E, Reardon E, Bonney E. Neurodevelopmental screening for neonates less than 44 weeks gestation in low-income and middle-income countries: a systematic review. BMJ Glob Health. 2025; 10(4).

INTRODUCTION: With global improvements in neonatal survival, more small and sick newborns in low-income and middle-income countries (LMICs) are at increased risk of neurodevelopmental disability and delay. While there is increased recognition of the importance of early identification of neurodevelopmental differences and timely initiation of therapy, little is known about standardised neonatal neurodevelopmental screening tools in these settings. METHODS: We performed a systematic review to determine what standardised neurodevelopmental assessments had been used in LMICs for neonates before 44 weeks corrected gestational age and published in the literature. We excluded short-term clinical assessments designed for specific pathologies. We performed the search across seven databases, screened studies for eligibility and inclusion and extracted bibliographic data, country, patient characteristics, assessments and study aims. Results were summarised in tabular and graphical presentation. RESULTS: There were 2477 records screened, yielding 67 studies for inclusion. Studies in Asian countries made up 65.7%, while Latin America and Africa made up 19.4% and 16.4%, respectively. Physicians and paramedical staff performed the screening assessments in only 16.4% of studies, and 92.5% of studies used inpatient recruitment. The Neonatal Behavioural Neurological Assessment (25.4%) was the most frequently used screening tool followed by the General Movements Assessment (22.4%), the Hammersmith Neonatal Neurological Examination/Dubowitz (16.4%) and the Neonatal Behavioural Assessment Scale (10.4%). CONCLUSIONS: We did not identify any one neonatal neurodevelopmental screening assessment that is rapid, globally validated, identifies targets for intervention, has high predictive prognostic value and does not require neonatal or kinesiologic expertise or uncommon equipment. Such an assessment, in concert with evidence-based intervention, therapeutic delivery platforms, established referral pathways and trained personnel would improve functional outcomes for high-risk small and sick neonates in LMICs.

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2. Brosnan M, Camilleri LJ. Neuro-affirmative support for autism, the Double Empathy Problem and monotropism. Front Psychiatry. 2025; 16: 1538875.

Conceptualising autism within a neurodiversity approach raises fundamental questions regarding the nature of the goals pursued in autism support and who is responsible for achieving these goals. The Double Empathy Problem considers deficits in social communication as residing between autistic and non-autistic communicators, rather than solely within the autistic individual. This is important as autistic individuals can have different perceptions of what appropriate goals for autism support should be, when compared to (non-autistic) family, friends and professionals. Monotropism highlights the importance of engaging with the interests of the autistic individual when considering support. This perspective considers the extent to which autistic individuals can self-set and self-achieve autism support goals? Social narratives have a specific goal and explicit description of how to achieve this goal and what the outcome of achieving the goal will be. The Stories Online For Autism app (SOFA-app.com) develops and delivers social narratives for autistic individuals. The SOFA-app has proven to be highly acceptable and effective in supporting autistic individuals. Initially our research focussed on family, friends and professionals developing autism support for autistic children. Subsequently we extended this methodology to explore the self-set goals of autistic adults and children as well as capacity to self-achieve these goals successfully. Digital support for the development and delivery of social narratives to support self-set goals for autistic individuals is recommended. Addressing the Double Empathy Problem and supporting self-set goals are also considered alongside the implications of preferences associated with Monotropism to argue this approach can be considered neuro-affirmative.

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3. Gallagher L, Crane L, Dinneen T, Ibrahim N, Mulryan N, Bolshakova N, Harris A, O’Rourke L, Pellicano E. Examining the barriers and facilitators to mental health service provision for autistic people in Ireland: a survey of psychiatrists. Ir J Psychol Med. 2025: 1-9.

BACKGROUND: Autistic people have high levels of mental ill-health and an increased risk of suicide across the lifespan. Yet autistic people report difficulties communicating with healthcare professionals and accessing a range of healthcare services. At the same time, mental healthcare workers in other countries are reporting links between confidence when working with autistic patients and the degree of autism knowledge and training they can access. METHODS: We sought to examine what factors helped or hindered Irish mental healthcare colleagues when working with autistic healthcare service users. An online survey using quantitative and qualitative metrics was circulated among psychiatrists who are members of the College of Psychiatrists of Ireland, both in training and at consultant level, from April 2021 to April 2022. RESULTS: Knowledge of autism was high among psychiatrists (n = 140), but self-efficacy scores were variable, particularly in relation to care pathways. Self-efficacy was better among psychiatrists with caseloads of children and youth or individuals with co-occurring intellectual disabilities. Three key qualitative themes emerged relating to capacity and training of mental health professionals, ways to improve mental health services provision for autistic individuals and also the critical need for co-creation and neurodiversity affirmative care. CONCLUSIONS: The study highlighted critical systemic and professional challenges in providing mental health care to autistic people in Ireland. We provide recommendations for reducing these challenges and for enabling the development of inclusive, evidenced-based care to autistic individuals.

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4. Guerrera S, Fucà E, Petrolo E, De Stefano A, Casula L, Logrieco MG, Valeri G, Vicari S. Exploring the clinical features of minimally verbal autistic children. Front Psychiatry. 2025; 16: 1549092.

INTRODUCTION: It is recognized that around 25-30% of autistic children do not develop functional speech and remain minimally verbal beyond the age of 5. However, little is known about the clinical characteristics of this group. METHODS: We retrospectively examined a sample of 189 autistic children and adolescents classified as minimally verbal (mean age: 7.37 ± 1.51; 152 males, 37 females) and compared them with a group of 184 verbal autistic children and adolescents (mean age: 7.71 ± 2.52; 160 males, 24 females). We considered intellectual functioning, severity of autism, emotional and behavioural problems, and parenting stress. RESULTS: Children in the minimally verbal group exhibited significantly lower nonverbal Intelligent Quotient and an increase in restricted repetitive behaviours compared to the verbal group. Exploring potential differences in emotional and behavioural problems, the verbally group showed higher levels of anxiety symptoms. In addition, minimally verbal group showed high score of parenting stress. DISCUSSION: This study highlights the importance of accurately characterizing minimally verbal autistic children and adolescents to facilitate the identification of specific and individualized interventions based on individual functioning profiles.

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5. Li C, Park H, Awasthi J, Rolison M, Li M, Scheinost D, Chawarska K, Hampson M. Disrupted Resting-State Functional Connectivity in the Social Visual Pathway in Children With Autism Spectrum Disorder. Autism Res. 2025.

The social visual pathway, which diverges from the dorsal pathway at the visual motion area (MT/V5) and runs from the posterior down to anterior portions of the superior temporal sulcus (STS), specializes in processing dynamic social information. This study examined resting-state functional connectivity within this pathway in children with autism spectrum disorder (ASD) and typically developing (TD) children. Using data from the Autism Brain Imaging Data Exchange (ABIDE) repository, we found significant hypoconnectivity between the posterior and middle STS (pSTS-mSTS) in the right hemisphere in children with ASD compared to those in TD children. Lower connectivity in this region of the pathway correlated with more severe social symptoms in ASD and higher indices of social communication vulnerabilities in the combined ASD and TD groups. These findings suggest that a specific disruption in the right hemisphere social visual pathway in children with ASD potentially contributes to their social difficulties.

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6. Li J, Zhai P, Bi L, Wang Y, Yang X, Yang Y, Li N, Dang W, Feng G, Li P, Liu Y, Zhang Q, Mei X. Associations between amino acid levels and autism spectrum disorder severity. BMC Psychiatry. 2025; 25(1): 332.

BACKGROUND: Autism spectrum disorder (ASD) imposes a significant burden on both patients and society. Amino acid metabolism abnormalities are particularly relevant to ASD pathology due to their crucial role in neurotransmitter synthesis, synaptic function, and overall neurodevelopment. This study aims to explore the association between amino acid metabolic abnormalities and the severity of ASD by analyzing the amino acid concentrations in the blood of children with ASD. METHODS: Fasting peripheral blood samples were collected from 344 children with ASD, and amino acid concentrations were measured using liquid chromatography-tandem mass spectrometry (LC-MS/MS) while strictly following quality control measures. The association between amino acid concentrations and ASD severity was evaluated using logistic regression and restricted cubic spline (RCS) analysis. The ROC (receiver operating characteristic) curve, decision curve analysis (DCA), and calibration curve were used to construct and validate predictive models and nomograms, thereby assessing their predictive performance. RESULTS: Multivariate logistic regression analysis showed that aspartic acid (OR = 1.037, 95% CI: 1.009-1.068, P = 0.01), glutamic acid (OR = 1.009, 95% CI: 1.001-1.017, P = 0.03), phenylalanine (OR = 1.036, 95% CI: 1.003-1.072, P = 0.04), and leucine/isoleucine (OR = 1.021, 95% CI: 1.006-1.039, P = 0.01) were significantly positively correlated with the severity of ASD. On the other hand, tryptophan (OR = 0.935, 95% CI: 0.903-0.965, P < 0.01) and valine (OR = 0.987, 95% CI: 0.977-0.997, P = 0.01) were significantly negatively correlated with the severity of ASD. RCS analysis further revealed a nonlinear relationship between the concentrations of aspartic acid, proline, and glutamic acid and the risk of ASD. ROC curve analysis showed that the combined model achieved an AUC (area under the curve) of 0.806, indicating high diagnostic accuracy. Calibration and decision curve analysis further validated the predictive effectiveness and clinical utility of the model. CONCLUSIONS: This study identifies potential amino acid biomarkers that may contribute to ASD severity assessment. Further research is needed to validate these findings and explore their clinical utility.

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7. Lo GHM, Dale C, Happé F, Stewart GR. Theory of Mind Mediates the Association Between Autistic Traits and Social Isolation in Middle-Aged and Older Adults. Autism Res. 2025.

Social isolation has detrimental effects on wellbeing. While isolation can occur at any age, its prevalence has been found to increase in older adulthood. Populations with social functioning differences, such as autistic people, have also been found to be at particular risk of isolation across the lifespan, including in older age. Despite the widespread impacts of isolation, little is known about the underlying factors that may contribute to social isolation in autistic people and the general populations. While social isolation has been linked to autistic traits and theory of mind (ToM), no study has yet considered their inter-relationship. Taking a dimensional approach to autistic traits, this study examined the association between autistic traits (assessed by the AQ-10), ToM (CarToM and Frith-Happé Triangles) and social isolation (Lubben Social Connectedness Scale) among 111 adults (n = 53 autistic, 58 non-autistic), aged 40-86 years. The study also assessed the putative mediating role of ToM in the association between autistic traits and isolation. Pearson correlational analyses showed middle-aged and older adults with higher social connectedness reported fewer autistic traits and showed better performance in ToM tasks, even when accounting for the effect of age and mental health symptoms. Mediation analyses suggested the association between autistic traits and social isolation was partially mediated by ToM when age and mental health symptoms were accounted for. These findings suggest one possible mechanism for the experience of social isolation. Additionally, the findings highlight that autistic people and people with high autistic traits may be particularly susceptible to social isolation in midlife and older age, and may benefit from additional support and possible interventions to maintain desired levels of social connectedness in later life.

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8. Morisako N, Iwasaki T, Kato Y, Irie T. Contrast echocardiography proved useful in detecting abnormal flow following ASD closure during minimally invasive cardiac surgery: a case report. J Echocardiogr. 2025.

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9. Nishi Y, Toritsuka M, Takada R, Ishikawa M, Ishida R, Kayashima Y, Yamauchi T, Okumura K, Takeda T, Yamamuro K, Ikehara M, Noriyama Y, Kamikawa K, Murayama S, Ichikawa O, Nagata H, Okano H, Iwata N, Makinodan M. Impaired synaptosome phagocytosis in macrophages of individuals with autism spectrum disorder. Mol Psychiatry. 2025.

Dendritic spine abnormalities are believed to be one of the critical etiologies of autism spectrum disorder (ASD). Over the past decade, the importance of microglia in brain development, particularly in synaptic elimination, has become evident. Thus, microglial abnormalities may lead to synaptic dysfunction, which may underlie the pathogenesis of ASD. Several human studies have demonstrated aberrant microglial activation in the brains of individuals with ASD, and studies in animal models of ASD have also shown a relationship between microglial dysfunction and synaptic abnormalities. However, there are very few methods available to directly assess whether phagocytosis by human microglia is abnormal. Microglia are tissue-resident macrophages with phenotypic similarities to monocyte-derived macrophages, both of which consistently exhibit pathological phenotypes in individuals with ASD. Therefore, in this study, we examined the phagocytosis capacity of human macrophages derived from peripheral blood monocytes. These macrophages were polarized into two types: those induced by granulocyte-macrophage colony-stimulating factor (GM-CSF MΦ, traditionally referred to as « M1 MΦ ») and those induced by macrophage colony-stimulating factor (M-CSF MΦ, traditionally referred to as « M2 MΦ »). Synaptosomes purified from human induced pluripotent stem cell-derived neuron were used to assess phagocytosis capacity. Our results revealed that M-CSF MΦ exhibited higher phagocytosis capacity compared to GM-CSF MΦ, whereas ASD-M-CSF MΦ showed a marked impairment in phagocytosis. Additionally, we found a positive correlation between phagocytosis capacity and cluster of differentiation 209 expression. This research contributes to a deeper understanding of the pathobiology of ASD and offers new insights into potential therapeutic targets for the disorder.

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10. Scheithauer M, Lomas Mevers J, Scahill L, Freeman SS, Muething C, Rock C, Gillespie S, Johnson L, Call N. A Randomized Trial of Caregiver-Mediated Function-Based Elopement Treatment for Autistic Children. Autism. 2025: 13623613251330388.

Elopement is a common and dangerous behavior among autistic children. Behavioral treatments can reduce elopement, but most evidence comes from small-N evaluations in specialized settings with strategies varying across studies. The current study compared the efficacy of the caregiver-mediated function-based elopement treatment to parent education program (PEP) in a 16-week randomized clinical trial of 76 autistic children (age = 4-12 years). Function-based elopement treatment involves 12 weekly appointments aimed at improving safety, identifying the function of elopement, and implementing subsequent function-based treatment strategies. No group differences were observed on the Aberrant Behavior Checklist-Hyperactivity (primary outcome). Significant improvement from baseline to endpoint in function-based elopement treatment compared to parent education program participants was observed for secondary outcomes, including caregiver ratings of safety measures (p < 0.01), severity of elopement based on the Elopement Questionnaire (p < 0.01), and caregiver-collected data on elopement (p < 0.01). The Clinical Global Impression-Improvement Scale (CGI-I) rated by a treatment-blind evaluator found 31.6% of function-based elopement treatment participants improved compared to 2.6% in parent education program (p = 0.001). Improvements were maintained at a 28-week follow-up. Attrition was 5.26%, and no significant adverse events were deemed related to treatment. Function-based elopement treatment was superior to parent education program on elopement-specific outcomes and appears safe and acceptable.Lay AbstractMany autistic children exhibit wandering or running away from supervision (i.e. elopement), which can include leaving the house in the middle of the night or getting lost from a parent in a crowded location. Elopement can result in injury when the child is not supervised and is incredibly stressful for parents. Research suggests that behavioral intervention can help with elopement. However, most studies include only a few children. In addition, treatment strategies differ across studies, making it difficult to compare outcomes. The function-based elopement treatment has compiled strategies across different studies to build a 12-session treatment manual that can be followed by clinicians. The manual guides the therapist on the delivery of parent-training strategies to improve the child's safety and reduce elopement. We compared function-based elopement treatment to a control condition where parents met weekly with a clinician for more general parent training. Children whose parents received function-based elopement treatment showed greater improvement in elopement than children whose parents received more general parent education. This result suggests that the treatment works. Further study is needed to move function-based elopement treatment into clinical practice.

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11. Sultana S, Horiuchi S, Homer CS, Baqui AH, Vogel JP. The prevalence of long-term neurodevelopmental outcomes in preterm-born children in low- and middle-income countries: a systematic review and meta-analysis of developmental outcomes in 72 974 preterm-born children. J Glob Health. 2025; 15: 04106.

BACKGROUND: Preterm birth is associated with an increased risk of adverse neurodevelopmental outcomes. However, prevalence estimates of adverse neurodevelopmental outcomes on preterm born children in low – and middle – income countries (LMICs) remain unclear. In this systematic review and meta-analysis, we aim to estimate the prevalence of adverse neurodevelopmental outcomes in preterm-born children in LMICs. METHODS: We comprehensively searched six electronic databases – Medline, Embase, CINAHL, PsycInfo, Scopus, and Web of Science, without language and date restrictions. We included observational studies conducted in LMICs that reported prevalence of any type of neurodevelopmental outcome in children born preterm using a validated method or clinical diagnosis, and outcome measurement was performed in at least 100 eligible children at age ≥12 months. The primary outcomes of interest were a composite of any neurodevelopmental impairment, cerebral palsy, visual impairment/blindness, hearing impairment/deafness, motor impairment, developmental delays, learning difficulties, and adverse behavioural and socio-emotional outcomes. We used the JBI critical appraisal checklist to assess the quality of the included studies, and prevalence estimates were calculated using a random-effects meta-analysis model. RESULTS: A total of 47 data sets from 12 countries involving 72 974 preterm-born children were included. The estimated pooled prevalence of overall neurodevelopmental impairment and cerebral palsy was 16% (95% confidence interval (CI) = 11-21%) and 5% (95% CI = 3-6%), respectively. The pooled prevalence of developmental delays across different domains ranged from 8 to 13%. Lower prevalence was found in hearing impairment/deafness and visual impairment/blindness (1%). Higher prevalences were observed with decreasing gestational age and birth weight. CONCLUSIONS: There is a high burden of adverse neurodevelopmental outcomes in preterm born children in LMICs. Such prevalence estimates are essential in informing clinical and public health policy, allocating scarce resources, and directing further research to improved outcomes in these settings. REGISTRATION: PROSPERO: CRD42024569564.

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12. Vellucci L, Barone A, Buonaguro EF, Ciccarelli M, De Simone G, Iannotta F, Matrone M, Mazza B, Vitelli R, de Bartolomeis A, Iasevoli F. Severity of autism-related symptoms in treatment-resistant schizophrenia: associations with cognitive performance, psychosocial functioning, and neurological soft signs – Clinical evidence and ROC analysis. J Psychiatr Res. 2025; 185: 119-29.

Treatment-resistant schizophrenia (TRS) occurs when symptoms persist despite adequate antipsychotic treatment in terms of both timing and dosage. This severe condition is often overlooked, despite the existence of guidelines, with an average delay of 4-9 years before the introduction of clozapine, the gold standard treatment. We hypothesized that schizophrenia patients with severe autistic symptoms are more prone to develop TRS. To test this, we administered the Positive and Negative Syndrome Scale for Schizophrenia Autism Severity Scale (PAUSS) to 117 patients diagnosed with schizophrenia. Our results revealed that both TRS and clozapine non-responder (CLZ-nR) groups had higher rates of autistic symptoms than non-TRS patients. A machine learning model was developed to examine the relationship between PAUSS scores and TRS, obtaining an accuracy of 0.65 and an AUC of 0.67. Specifically, PAUSS items N6 (« lack of spontaneity and flow of conversation ») and N7 (« stereotypical thinking ») emerged as the most significant factors in the model. In addition, PAUSS was correlated with cognitive and social functions, as well as soft neurological signs, in TRS patients. Autism-related symptoms were found to predict significant variance in motor coordination, verbal fluency, functional ability and soft neurological signs. These results suggest that autism-related symptoms in schizophrenia may define a distinct subgroup with unique neurobiological characteristics.

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13. Xiao S, Li J. Impact of imitation abilities on social communication in autistic children: evidence from an Early Start Denver Model intervention study. Mol Autism. 2025; 16(1): 23.

Imitation is foundational to early social learning, yet autistic children often exhibit significant impairments in imitation, potentially impacting their social communication skills. This study examined the relationship between imitation abilities and social communication in autistic children and evaluated the effectiveness of the Early Start Denver Model (ESDM) intervention. The study included 52 autistic children aged 2-5, divided into an experimental group receiving ESDM intervention and a control group undergoing standard rehabilitation. We assessed the children’s imitation and social communication skills before and after the intervention. Results indicated a significant positive correlation between imitation and social communication skills both before and after the intervention. Specifically, various forms of imitation (e.g., vocal, gestural, object-related) were closely linked to different domains of social communication (e.g., expressive communication, joint attention, social skills). Baseline imitation levels and improvements in imitation were significant predictors of enhanced social communication, jointly accounting for over half of the observed improvements in social communication, with imitation improvement being the strongest predictor. Age positively moderated the relationship between imitation and social communication, with older children showing a stronger impact of imitation on social communication. Although these effects were evident across groups, the ESDM group showed greater gains in imitation skills compared to the control group. However, we did not find evidence of an intervention effect on social communication skills. This study underscores the critical role of imitation in the social communication development of autistic children. These findings support the enhancement of imitation skills in early interventions for autistic children, highlighting the effectiveness of ESDM in fostering imitation abilities.

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14. Yuan S, Pang C, Wu L, Yi L, Guo K, Jiang YH, Zhang YQ, Han S. Autism-like atypical face processing in Shank3 mutant dogs. Sci Adv. 2025; 11(14): eadu3793.

Atypical face processing is a neurocognitive basis of social deficits in autism spectrum disorder (ASD) and a candidate cognitive marker for the disease. Although hundreds of risk genes have been identified in ASD, it remains unclear whether mutations in a specific gene may cause ASD-like atypical face processing. Dogs have acquired exquisite face processing abilities during domestication and may serve as an effective animal model for studying genetic associations of ASD-like atypical face processing. Here, we showed that dogs with Shank3 mutations exhibited behavioral and attentional avoidance of faces, contrasting with wild-type controls. Moreover, neural responses specific to faces (versus objects) recorded from the electrodes over the temporal cortex were significantly decreased and delayed in Shank3 mutants compared to wild-type controls. Cortical responses in the frontal/parietal region underlying categorization of faces by species/breeds were reduced in Shank3 mutants. Our findings of atypical face processing in dogs with Shank3 mutations provide a useful animal model for studying ASD mechanisms and treatments.

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