Pubmed du 16/03/25
1. Angell AM, Wee CP, Deavenport-Saman A, Parchment C, Bai C, Solomon O, Yin L. Sleep Disorders and Constipation in Autistic Children and Youth: Who Receives Standard of Care Drug Treatments?. J Autism Dev Disord;2025 (Mar 15)
PURPOSE: The purpose of this retrospective cohort analysis was to investigate sex differences in receipt of standard of care sleep and constipation drug treatments among autistic children and youth with sleep disorder and constipation, respectively. METHODS: We used the data from the OneFlorida + Data Trust to analyze healthcare claims for 19,877 autistic patients with sleep disorder and 32,355 patients with constipation, ages 1 to 22. We used logistic regression to examine sex differences in receiving sleep and constipation treatments, and a multivariate logistic regression model to further assess sex differences in ever receiving sleep and constipation treatments, adjusting for age, race, ethnicity, and urbanicity. RESULTS: In our multivariate analysis, autistic girls with sleep disorder were 1.27 times more likely than boys to receive sleep treatment (p < 0.0001). Although autistic girls with constipation appeared to be 1.10 times more likely than boys to receive treatment, it was not significantly different after adjusting for demographic and socio-economic characteristics (p = 0.372). Older children were 1.09 times more likely than younger children to receive sleep treatment (p < 0.0001) and 1.07 times more likely to receive constipation treatment (p < 0.0001). CONCLUSION: We did not find sex differences among autistic children for treatment of constipation, but autistic girls with sleep disorder were significantly more likely to have ever received treatment, which could indicate that girls experience more significant sleep disorders.
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2. Arias-Aragón F, Robles-Lanuza E, Sánchez-Gómez Á, Martinez-Mir A, Scholl FG. Analysis of neurexin-neuroligin complexes supports an isoform-specific role for beta-neurexin-1 dysfunction in a mouse model of autism. Mol Brain;2025 (Mar 14);18(1):20.
Neurexins are presynaptic plasma membrane proteins that regulate key aspects of synapse physiology through the formation of transcellular complexes with postsynaptic ligands, including neuroligins (Nlgns). Each neurexin gene (NRXN1-3) generates two main alternative-spliced transcripts that generate alpha and beta-Nrxn isoforms differing in their extracellular domains. Mutations in NRXN1 are associated with autism and other neurodevelopmental disorders. However, whether dysfunction of NRXN1 occurs through common or isoform-specific postsynaptic partners for alpha- and beta-Nrxn1 is not completely known. The association of Nrxn1 proteins with postsynaptic partners has been mostly analysed in experiments that test binding, but Nrxn proteins must interact with Nlgns in opposing cells, which requires transcellular oligomerization. Here, we studied the interactions of Nrxn1/Nlgn pairs across the synapse and identified the type of association affected in a mouse model of autism. We found that beta-Nrxn1 can be recruited at synaptic contacts by glutamatergic Nlgn1 and GABAergic Nlgn2, whereas alpha-Nrxn1 is a presynaptic partner of Nlgn2. Insertion of alternative spliced segment 4 (AS4) negatively modulates the presynaptic recruitment of Nrxn1 by Nlgns. These data obtained in transcellular assays help clarify previous knowledge based on the ability of Nrxn1 to bind to Nlgns. Interestingly, we found that a mutant beta-Nrxn1 shows ligand restriction for glutamatergic Nlgn1 in the brain of a mouse model of autism. These findings suggest that autism-associated mutations affecting beta-Nrxn1 can act through specific synaptic partners that may be different from those of its alpha-Nrxn1 counterparts.
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3. Aslan Bağcı Ö, Karaca MA, Çelik OT. Teachers’ perceptions of children with autism spectrum disorder: a comparison between special education and preschool teachers. BMC Psychol;2025 (Mar 14);13(1):252.
This study aimed to determine the metaphors preschool and special education teachers developed about autism. In this study, the researchers used the phenomenology design, one of the qualitative research designs. While determining the study group of the research, the convenience sampling method, one of the purposeful sampling methods, was used. The study group consisted of 90 teachers who volunteered to participate. The data were collected with the metaphor pattern prepared as « Autism is like …………. Because it is like ……. » metaphor mold was used to collect the data. The data were analyzed using the content analysis technique. The metaphors teachers use provide important information about their attitudes toward ASD and their pedagogical strategies. The results of this study show that both groups of teachers have different approaches to the education and development of children with autism. Findings reveal significant differences in attitudes and educational strategies, showing that special education teachers often view ASD as a process of discovery, while preschool teachers express hope and some uncertainty.
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4. Begum-Ali J, Mason L, Charman T, Johnson MH, Green J, Garg S, Jones EJH. Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1. J Neurodev Disord;2025 (Mar 14);17(1):12.
BACKGROUND: Neurofibromatosis Type 1 is a genetic condition diagnosed in infancy that substantially increases the likelihood of a child experiencing cognitive and developmental difficulties, including Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). Children with NF1 show clear differences in attention, but whether these differences emerge in early development and how they relate to broader difficulties with cognitive and learning skills is unclear. To address this question requires longitudinal prospective studies from infancy, where the relation between domains of visual attention (including exogenous and endogenous shifting) and cognitive development can be mapped over time. METHODS: We report data from 28 infants with NF1 tested longitudinally at 5, 10 and 14 months compared to cohorts of 29 typical likelihood infants (with no history of NF1 or ASD and/or ADHD), and 123 infants with a family history of ASD and/or ADHD. We used an eyetracking battery to measure both exogenous and endogenous control of visual attention. RESULTS: Infants with NF1 demonstrated intact social orienting, but slower development of endogenous visual foraging. This slower development presented as prolonged engagement with a salient stimulus in a static display relative to typically developing infants. In terms of exogenous attention shifting, NF1 infants showed faster saccadic reaction times than typical likelihood infants. However, the NF1 group demonstrated a slower developmental improvement from 5 to 14 months of age. Individual differences in foraging and saccade times were concurrently related to visual reception abilities within the full infant cohort (NF1, typical likelihood and those with a family history of ASD/ADHD). CONCLUSIONS: Our results provide preliminary evidence that alterations in saccadic reaction time and visual foraging may contribute to learning difficulties in infants with NF1.
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5. Boucaud-Maitre D, Plasse J, Chéreau-Boudet I, Gouache B, Legros-Lafarge E, Massoubre C, Guillard-Bouhet N, Haesebaert F, Franck N, Barbalat G. Usefulness in rehabilitation of the paper Multiple Errands Test to assess executive functions in patients with schizophrenia, bipolar or autism disorders. Results from the REHABase cohort study. Encephale;2025 (Mar 14)
OBJECTIVE: Neuropsychological tests measuring executive functions are useful for identifying specific cognitive disorders, but they have limits for characterizing executive dysfunction in everyday activities. This study aims to investigate the socio-demographic, clinical, and psychosocial features associated with executive functions in patients with schizophrenia, bipolar, and autism spectrum disorders using a Paper Multiple Errands Test. PATIENTS OR MATERIALS AND METHODS: A total of 1071 adults with schizophrenia spectrum disorder, 329 with bipolar spectrum disorder, and 254 with autism spectrum disorder were recruited from the French National Centers of Reference for Psychiatric Rehabilitation (REHABase) cohort between January 2016 and October 2022. Executive function severity was assessed by the multiple errands test. Socio-demographic and clinical data were extracted as well as results from standardized scales for self-stigma, quality of life, well-being, and self-esteem. Data were analyzed using bivariate and Quasi-Poisson regression model. RESULTS: The mean number of errors measured by the paper multiple errands test was 3.1±1.9 in patients with schizophrenia spectrum disorder (n=1071), 2.4±1.8 in bipolar disorder (n=329), and 2.6±1.9 in autism disorder (n=254). Factors significantly associated with the number of errors were (1) age, illness duration, number of hospitalizations, education level, working memory, and insight in patients with schizophrenia; (2) age, illness duration, number of hospitalizations, education level, and working memory in patients with bipolar disorder; and (3) education level and working memory in patients with autism disorder. The number of errors was associated with lower quality of life, well-being and self-esteem, but not self-stigma, in all three disorders. CONCLUSION: The predictors of executive dysfunction observed with the paper multiple errands test were similar to those found with other tests of executive function. The paper multiple errands test is associated with essential psychosocial determinants in rehabilitation, particularly quality of life and well-being, and provides a wide range of information about functioning in community living.
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6. Chetcuti L, Hardan AY, Spackman E, Loth E, McPartland JC, Frazier TW, Youngstrom EA, Uljarevic M. Parsing the heterogeneity of social motivation in autism. J Child Psychol Psychiatry;2025 (Mar 16)
BACKGROUND: Social motivation is posited as a key factor in the expression of the autism phenotype. However, lack of precision in both conceptualization and measurement has impeded a thorough understanding of its diverse presentation and associated outcomes. This study addresses this gap by identifying subgroups of autism characterized by deficits in distinct facets of social motivation, relative to normative benchmarks. METHODS: Data were from 509 participants with autism, aged 5-to-21 years (M = 10.43, SD = 3.67; 81% male), enrolled in the Healthy Brain Network. Latent profile analysis was employed to identify subgroups characterized by unique configurations of reticence, seeking, and maintaining facets of social motivation, derived from a comprehensive multi-instrument factor analysis of symptom and screening measures. Pearson’s chi-square tests and one-way analysis of variance were performed to explore subgroup differences in demographic characteristics, cognitive abilities, co-occurring psychopathologies, and other aspects of social functioning. RESULTS: Four distinct subgroups were identified: Engaged (n = 247), exhibiting the fewest challenges across each area; Inhibited (n = 143), characterized by high reticence, mild challenges in seeking, and few challenges in maintaining; Aloof (n = 68), characterized by challenges with seeking and maintaining but relatively low reticence; and Avoidant (n = 52), characterized by the highest challenges across all areas. Subgroups did not differ in terms of chronological age or sex. The Engaged subgroup exhibited the fewest challenges in other aspects of social functioning and co-occurring psychopathologies, while the Avoidant subgroup exhibited the greatest challenges, and with the Inhibited and Aloof profiles falling in between. CONCLUSIONS: This study highlights the heterogeneous nature of deficits in social motivation in autism relative to normative benchmarks, suggesting potential avenues for tailored interventions aimed at addressing the specific challenges experienced by individuals within each subgroup. Nevertheless, there remains a need to develop more refined measurement tools capable of capturing even finer-grained aspects and diverse expressions of social motivation, facilitating further characterization of individual differences across diagnostic boundaries.
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7. Cortez-Vergara CP, Hijar-Guerra G, Távara-Campos B, Ugaz-Villacorta ME. Initial steps in the selection of a child development screening instrument in the peruvian context. Bol Med Hosp Infant Mex;2025;82(Supl 1):25-35.
BACKGROUND: The foundational elements for optimal well-being and health are established during the early stages of life. When progress does not meet expectations, it is necessary to explore possible disorders, health conditions, or other probable factors affecting it. Health professionals in our country must have access to developmental screening instruments that facilitate early detection of these potential risks and delays, thus enabling timely intervention. METHODS: After a pre-selection of the evidence and adequate training of a multi-sectoral panel, a virtual deliberative dialog was held with key stakeholders and decision-makers to determine the most appropriate development screening instrument for the Peruvian context. The evidence was analyzed and discussed in light of the established criteria. In addition, factors pertaining to implementation on a national level were discussed. RESULTS: A set of instruments were obtained and prioritized in the following order: Evaluation of Child Development (EDI, Spanish acronym) ranked first, followed by the Abbreviated Developmental Scale Third Edition (EAD-3, Spanish acronym) and the Ages and Stages Questionnaire (ASQ-3, Spanish acronym), based on the established criteria. The primary components implicated in the execution of this evaluation on a national scale were subsequently identified. CONCLUSIONS: This deliberative dialog has enabled a first approach to the selection of a development screening instrument on the national level, providing valuable information to guide the implementation process.
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8. Engels B, Bloemen MAT, Felius R, Damen K, Bolster EAM, Wittink H, Engelbert RHH, Gorter JW. Monitoring of child-specific activities in ambulatory children with and without developmental disabilities. BMC Pediatr;2025 (Mar 15);25(1):193.
BACKGROUND: Pediatric healthcare professionals facilitate children to enhance and maintain a physically active lifestyle. Activity monitors (AM) can help pediatric healthcare professionals assess physical activity in everyday life. However, validation research of activity monitors has often been conducted in laboratories and insight into physical activity of children in their own everyday environment is lacking. Our goal was to study the criterion validity of a prototype AM (AM-p) model in a natural setting. METHODS: Cross-sectional community-based study with ambulatory children (2-19 years) with and without developmental disability. Children wore the AM-p on the ankle and were filmed (gold standard) while performing an activity protocol in a natural setting. We labelled all videos per 5-second epoch with individual activity labels. Raw AM-p data were synchronized with activity labels. Using machine learning techniques, activity labels were subdivided in three pre-defined categories. Accuracy, recall, precision, and F1 score were calculated per category. RESULTS: We analyzed data of 93 children, of which 28 had a developmental disability. Mean age was 11 years (SD 4.5) with 55% girls. The AM-p model differentiated between ‘stationary’, ‘cycling’ and ‘locomotion’ activities with an accuracy of 82%, recall of 78%, precision of 75%, and F1 score of 75%, respectively. Children older than 13 years with typical development can be assessed more accurately than younger children (2-12 years) with and without developmental disabilities. CONCLUSION: The single ankle-worn AM-p model can differentiate between three activity categories in children with and without developmental disabilities with good accuracy (82%). Because the AM-p can be used for a heterogenous group of ambulatory children with and without developmental disabilities, it may support the clinical assessment for pediatric healthcare professionals in the future.
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9. Gao T, Chen D, Zhou M, Wang Y, Zuo Y, Tu W, Li X, Chen J. Self-training EEG discrimination model with weakly supervised sample construction: An age-based perspective on ASD evaluation. Neural Netw;2025 (Mar 10);187:107337.
Deep learning for Electroencephalography (EEG) has become dominant in the tasks of discrimination and evaluation of brain disorders. However, despite its significant successes, this approach has long been facing challenges due to the limited availability of labeled samples and the individuality of subjects, particularly in complex scenarios such as Autism Spectrum Disorders (ASD). To facilitate the efficient optimization of EEG discrimination models in the face of these limitations, this study has developed a framework called STEM (Self-Training EEG Model). STEM accomplishes this by self-training the model, which involves initializing it with limited labeled samples and optimizing it with self-constructed samples. (1) Model initialization with multi-task learning: A multi-task model (MAC) comprising an AutoEncoder and a classifier offers guidance for subsequent pseudo-labeling. This guidance includes task-related latent EEG representations and prediction probabilities of unlabeled samples. The AutoEncoder, which consists of depth-separable convolutions and BiGRUs, is responsible for learning comprehensive EEG representations through the EEG reconstruction task. Meanwhile, the classifier, trained using limited labeled samples through supervised learning, directs the model’s attention towards capturing task-related features. (2) Model optimization aided by pseudo-labeled samples construction: Next, trustworthy pseudo-labels are assigned to the unlabeled samples, and this approach (PLASC) combines the sample’s distance relationship in the feature space mapped by the encoder with the sample’s predicted probability, using the initial MAC model as a reference. The constructed pseudo-labeled samples then support the self-training of MAC to learn individual information from new subjects, potentially enhancing the adaptation of the optimized model to samples from new subjects. The STEM framework has undergone an extensive evaluation, comparing it to state-of-the-art counterparts, using resting-state EEG data collected from 175 ASD-suspicious children spanning different age groups. The observed results indicate the following: (1) STEM achieves the best performance, with an accuracy of 88.33% and an F1-score of 87.24%, and (2) STEM’s multi-task learning capability outperforms supervised methods when labeled data is limited. More importantly, the use of PLASC improves the model’s performance in ASD discrimination across different age groups, resulting in an increase in accuracy (3%-8%) and F1-scores (4%-10%). These increments are approximately 6% higher than those achieved by the comparison methods.
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10. Ghosn F, Perea M, Lizarán M, Labusch M, Moreno-Giménez A, Sahuquillo-Leal R, Almansa B, Buesa J, Campos L, Pérez JA, García-Blanco A. Understanding decision-making in autistic children and adolescents: Insights from deliberative processes and behavioral economic paradigms. Autism;2025 (Mar 14):13623613251323493.
Prior research has shown conflicting findings on decision-making differences between autistic and non-autistic individuals. To address this issue, we applied the Ultimatum and Dictator Games to examine explicit measures (probability of endorsing monetary offers) and implicit measures (response times) associated with decision-making behaviors. By analyzing response times, we aimed to determine whether decisions were intuitive (rapid) or deliberative (slower) reasoning processes. In addition, we administered an executive functions questionnaire to explore how cognitive skills correlate with implicit and explicit decision-making behaviors. The study included 24 autistic and 24 non-autistic children and adolescents aged 8-18 years. Results showed that autistic participants were less likely to propose selfish offers in the Dictator Game than their non-autistic peers. Among autistic participants, this lower tendency to propose selfish offers correlated with better executive function skills. Regarding response times, autistic participants exhibited slower responses than non-autistic participants when accepting and proposing selfish offers in both games. These findings reveal differences in selfish offer tendencies and deliberative reasoning among participants, suggesting that slower decision-making in autistic participants reflects a focus on fairness and sociomoral reasoning. Future research can explore how this reasoning style influences social interactions in various scenarios.Lay AbstractAutistic kids and teens often have unique ways of communicating and socializing with others. Making decisions is important in how we behave daily and how we socialize. To study if autistic participants tend to make more cooperative or selfish choices, we used two games where participants had to share money between themselves and another player. Previous results were not consistent and that is why general assumptions could not be established. Also, previous results focused on the final decisions and did not consider the process that leads to making decisions. To fill the gap in what we know, this study dug deeper by evaluating how quickly or slowly participants made decisions and explored executive functions needed for daily decisions. The study found that autistic participants, with better executive functions, made less selfish offers (where they could keep more money than their peers) than non-autistic participants. Also, autistic participants took more time to decide than non-autistic participants, only when they could earn more money than the other player. Interestingly, these results are consistent with studies indicating that autistic children distribute resources without a primary focus on personal gains. These findings reshape how we view social exchanges and recognize that slow, deliberate thinking can lead to less selfish decisions in autistic children and adolescents. Future research could explore how this reasoning style influences social interactions in varied contexts.
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11. Kiera A, Jonahs S, Mary B, Geoffrey B, Polly W. Experiences of interoception and anxiety in autistic adolescents: A reflexive thematic analysis. Autism;2025 (Mar 14):13623613251314595.
Most autistic adolescents experience anxiety. Interoception, defined as one’s ability to detect and interpret bodily signals, might contribute to this. The aim of this exploratory, qualitative study was to gain a better understanding of interoceptive experiences in autistic adolescents and how this relates to anxiety. Semi-structured 1:1 interviews were conducted with 13 UK-based, autistic adolescents, aged 14-17 years, who reported experiencing significant, day-to-day anxiety. Interviews were analysed using a reflexive thematic analysis approach. Interoception appeared relevant to experiences of anxiety in most participants, although this influence was exerted through various routes. While hypoawareness of interoceptive signals led to a reduced ability to detect and regulate anxiety, hyperawareness became overwhelming and anxiety-inducing. Overly negative evaluations of interoceptive signals, including catastrophising about the signals indicating danger, also triggered anxiety. Relationships between interoception and anxiety appeared bidirectional, with anxiety also affecting interoceptive awareness and evaluation. Interoceptive experiences were variable both across and within participants, with factors such as arousal and cognitive overload affecting experiences. Future research should focus on assessing the feasibility of interventions based on the mechanisms identified here.Lay abstractAnxiety is common in autistic adolescents. The detection and interpretation of signals coming from inside the body (e.g. heartbeat and hunger) is assumed to be related to both anxiety and autism. We interviewed 13 autistic 14- to 17-year-olds who reported experiencing significant anxiety, to explore the role that bodily signals played in their experiences of anxiety. Across most participants, there did appear to be a relationship, although the exact way it was related varied. When participants were very aware of bodily signals, they could become overwhelming, but if they were not aware at all, then it was difficult for them to notice themselves getting anxious until it was too late. If participants interpreted these signals negatively, for example, assuming the signals meant something was wrong with their body, they were also more likely to feel anxious. Whether participants were aware or negatively evaluated these signals was very variable and appeared to be context-dependent.
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12. Leonardi S, Di Cara M, Giliberto S, Piccolo A, De Domenico C, Leonardi G, Alito A, Siracusano R, Calabrò RS, Quartarone A, Cucinotta F. The use of multisensory environments in children and adults with autism spectrum disorder: A systematic reviewz. Autism;2025 (Mar 14):13623613251320424.
Multisensory environment is a setting designed with activities and tools that offered sensory stimulation. Despite their widespread use, no evidence-based guidelines are currently available. The aim of this systematic review was to assess the impact of multisensory environment interventions in autism and to provide guidelines. We included all studies of multisensory environment interventions for autistic individuals retrieved from PubMed, Web of Science, and Science Direct up to 30 September 2024. Two researchers appraised the included literature and extracted the data. A total of 1247 unique records were screened for eligibility, and 10 studies were included. Data extraction included demographic characteristics, type of intervention, target symptoms, and outcome measures. Quality assessment tools included the Newcastle-Ottawa Scale and the Cochrane Risk of Bias for randomized controlled trials. The studies were synthesized narratively based on target symptoms. Four studies reported reductions in stereotypic behavior frequency in children and adults; while other studies suggest positive effects on sustained attention, and aggressive and sensory behaviors. Overall, there was insufficient evidence due to the paucity of literature, the significant variation between interventions, and the small sample sizes. Future research should aim to develop a structured intervention approach to address the common limitations of the included designs.Lay abstractMultisensory rooms, also known as multisensory environments, are widely used in clinical practice and schools for autistic people. Despite their widespread use, their usefulness or effectiveness in achieving specific improvements is still unclear. We carry out a comprehensive and systematic quality assessment of all available studies to test the effectiveness of multisensory environment interventions in autism spectrum disorder and to explore what type of targeted intervention is needed to improve both core symptoms and associated features. The results show that multisensory environment could be a useful tool to modulate aggressive and stereotyped behaviors in autistic individuals. Although there is insufficient evidence to conclude on the efficacy of multisensory environment for other types of targets, overall, the results may provide valuable insights for the development of future studies concerning the utility of multisensory environment in therapeutic intervention.
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13. Oller DK, Bene ER, Yoo H, Su PL, Long H, Klaiman C, Pulver SL, Pileggi ML, Brane N, Ramsay G. The robustness of speech-like vocalization in typically developing infants and infants with autism. Res Dev Disabil;2025 (Apr);159:104949.
BACKGROUND: Human infants produce speech-like vocalizations (« volubility ») at very high rates, 4-5 per minute during waking hours across the first year, far exceeding rates of our ape relatives. AIMS: We document volubility in 127 typically developing (TD) infants, 44 with autism (ASD), and 21 with non-autism developmental delay (DD) through longitudinal recordings and human coding. METHODS AND PROCEDURES: Families of 302 infants (110 not yet diagnosed or with other diagnoses) supplied 8.6 all-day recordings across the first year. Trained coders analyzed 21 randomly-selected 5-minute segments per recording, counting speech-like vocalizations, cries, and laughter. OUTCOMES AND RESULTS: Infants in all groups (including those with other diagnoses or not yet diagnosed) showed volubility of 4-5 per minute for the first year, but boys showed higher volubility than girls in the TD, ASD, and DD groups. While volubility was relatively stable across the first year for both boy and girl TD infants, volubility fell in both ASD and DD boys, while being more stable for girls. CONCLUSIONS AND IMPLICATIONS: Strong similarities in volubility were seen across all groups, but male infants diagnosed with ASD or DD showed falling volubility across the first year, a pattern not seen in TD infants.
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14. Rodríguez-Trejo MS, Rizzoli-Córdoba A, Hernández-Trejo LA, Torres-Escobar IR, M ÁV-K. Validation of a screening tool for developmental problems in children 60-71 months in Mexico. Bol Med Hosp Infant Mex;2025;82(Supl 1):45-51.
BACKGROUND: Early childhood is a critical period for child development. The Child Development Evaluation Test (EDI in Spanish), developed and validated in Mexico, is a screening tool for developmental problems in children from 1 month to 4 years and 11 months. OBJECTIVE: To validate group 15 of the EDI test for children aged 60-71 months, comparing sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) using the Battelle Developmental Inventory 2(nd) edition (BDI-2) in Spanish as the gold standard. METHODS: A cross-sectional analytic study with 46 children aged 60-71 months was conducted at the Hospital Infantil de México Federico Gómez. Children were evaluated using group 15 of the EDI test and BDI-2. The sample was non-probabilistic by convenience. Diagnostic metrics and comparisons were performed globally and in the developmental domain. RESULTS: The sensitivity and specificity of group 15 for the EDI test were 93.8% (95% confidence interval [CI]: 81.8%-100%) and 73.3% (95%CI: 57.5%-89.1%), respectively. The PPV was 65.2%, and the NPV 95.5%. The highest percentage of false negatives was in the cognitive domain, followed by the adaptive domain. CONCLUSION: In this first study, group 15 of the EDI test shows high sensitivity and NPV, allowing early detection in an age group previously not covered, thus facilitating interventions in this group.
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15. Rynard KM, Han K, Wainberg M, Calarco JA, Lee HO, Lipshitz HD, Smibert CA, Tripathy SJ. ASiDentify (ASiD): A Machine Learning Model to Predict New Autism Spectrum Disorder Risk Genes. Genetics;2025 (Mar 15)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects nearly 3% of children and has a strong genetic component. While hundreds of ASD risk genes have been identified through sequencing studies, the genetic heterogeneity of ASD makes identifying additional risk genes using these methods challenging. To predict candidate ASD risk genes, we developed a simple machine learning model, ASiDentify (ASiD), using human genomic, RNA- and protein-based features. ASiD identified over 1,300 candidate ASD risk genes, over 300 of which have not been previously predicted. ASiD made accurate predictions of ASD risk genes using six features predictive of ASD risk gene status, including mutational constraint, synapse localization and gene expression in neurons, astrocytes and non-brain tissues. Particular functional groups of proteins found to be strongly implicated in ASD include RNA-binding proteins and chromatin regulators. We constructed additional logistic regression models to make predictions and assess informative features specific to RNA-binding proteins, including mutational constraint, or chromatin regulators, for which both expression level in excitatory neurons and mutational constraint were informative. The fact that RNA-binding proteins and chromatin regulators had informative features distinct from all protein-coding genes, suggests that specific biological pathways connect risk genes with different molecular functions to ASD.
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16. Salado-Meléndez LG, Rizzoli-Córdoba A, Alfonso Cruz-Ortiz L. Developmental and behavioral pediatrics service: comprehensive early childhood care in Mexico. Bol Med Hosp Infant Mex;2025;82(Supl 1):113-119.
Developmental pediatrics (DP) in Mexico has taken a crucial step forward in the creation of the Developmental and Behavioral Pediatrics Service (SPDC, for its acronym in Spanish) at Hospital Infantil de México Federico Gómez (HIMFG). The SPDC is a leading area in early detection and intervention in neurodevelopmental problems and contributes to children’s well-being. Among its achievements are the development and implementation of the Child Development Evaluation Test, which has been validated for children under 6 years old, and of a free virtual training program for medical personnel that is supported by an interactive platform. Furthermore, the SPDC is the only center in Mexico to offer a postgraduate degree in DP. With a fair and evidence-based approach, the SPDC contributes to the strengthening of public policy, research, and comprehensive care to ensure children’s development.
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17. Schonhaut L, Valdés A, Oppenheimer I, Rizzoli-Córdoba A, Rivera R. Early developmental screening tools constructed in Latin American countries: umbrella review. Bol Med Hosp Infant Mex;2025;82(Supl 1):5-24.
BACKGROUND: Multiple early childhood development (ECD) screening instruments have been developed in Latin America. OBJECTIVE: The objective of this study was to describe ECD screening tests for children under 4 years of age constructed in Latin American countries in the context of healthcare, currently in use. METHODS: A systematic review of literature published until April 2024 was conducted to identify screening tests constructed in Latin America. The search for each test was expanded, and individual records were completed. Authors of the instruments and/or their validations were identified and contacted to corroborate the information. An ECD screening test was defined as one that assesses at least three different domains. Only tests used in the healthcare system were included in the study. Those without publications and/or accessible information were excluded from the study. RESULTS: Twenty-one tests constructed in nine countries (Argentina, Brazil, Chile, Colombia, Costa Rica, Cuba, Mexico, Peru, and Uruguay) were included, many used in different countries of the region. Seven were constructed and/or validated in the past 5 years. They predominantly consist of direct assessment or questions to primary caregivers. Four were validated for online use, and one for virtual use. In the validation, most combined different psychometric analyses, with heterogeneity in methodology and reference patterns. Median summary sensitivity was 0.67 (95% confidence interval [CI] 0.34-1.0), and specificity was 0.71 (95% CI 0.42-1.0). CONCLUSIONS: The ECD screening tests developed in Latin America show thorough validation and ongoing updates, though they exhibit some variability. Direct assessment using paper predominates. The consistency of the instruments, when used in different countries and populations, stands out.
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18. Sun YQ, Huang XX, Guo W, Hong C, Ji J, Zhang XY, Yang J, Hu G, Sun XL. IFN-γ signaling links ventriculomegaly to choroid plexus and ependyma dysfunction following maternal immune activation. J Neuroinflammation;2025 (Mar 15);22(1):83.
Maternal immune activation (MIA) is a principal environmental risk factor contributing to autism spectrum disorder (ASD) and can be causally linked to ASD symptoms. In our study, we found that MIA triggered by poly (I: C) injection caused ventriculomegaly in offspring due to the dysfunction of the choroid plexus (Chp) and ependyma. We subsequently identified a sustained enhancement of interferon-γ (IFN-γ) signaling in the brain and serum of MIA offspring. Further study revealed that increased IFN-γ signaling could disrupt the barrier function of Chp epithelial cells by activating macrophages, and suppress the differentiation of primary ependymal cells via the signal transducer and activator of transcription 1/3 signaling. The effects of MIA on the offspring were mitigated by administration of IFNGR-blocking antibody in pregnant dams, while systemic maternal administration of IFN-γ was sufficient to mimic the effect of MIA. Overall, our findings revealed that ventriculomegaly caused by IFN-γ signaling could be a critical factor in compromising fetal brain development in MIA-induced ASD and provide a mechanistic framework for the association between maternal inflammation and abnormal development of ventricles in the offspring.
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19. Torres-Escobar IR, Villasis-Keever M, Zapata-Tarrés MM, Hernández-Trejo LA, Delaflor-Wagner CA, Rizzoli-Córdoba A. Validity of administering the child development evaluation test through telemedicine to children aged 18-72 months. Bol Med Hosp Infant Mex;2025;82(Supl 1):52-58.
BACKGROUND: Early childhood development is a complex process that requires reliable tools for the timely detection of alterations that may affect a child’s progress. The Child Development Evaluation test (EDI, in its Spanish acronym) is a screening test developed and validated in Mexico to be administered in person by a professional. The objective is to evaluate the validity of administering the EDI test through telemedicine in terms of its diagnostic concordance with the face-to-face modality. METHODS: This analytical, prospective, and cross-sectional study included patients aged 18-72 months and was conducted at a tertiary care hospital in Mexico City. The test was administered through telemedicine and subsequently in person. In addition, sensitivity and specificity data were reported with confidence interval of 95% (95% CI). The face-to-face evaluator was blinded to the telemedicine results. RESULTS: Fifty children with a median age of 47 months participated in the study. A sensitivity of 100% (95% CI, 91-100) and specificity of 100% (95% CI, 70-100) overall were obtained. Language was the higher area with a sensitivity of 100 (95% CI: 91-100) and specificity of 90 (59-98); the results for the other areas are shown. The lowest sensitivity was neurological examination (67; CI 95%: 30-90) but has the highest specificity (98; CI 95%: 88-99). CONCLUSION: The EDI test implemented through telemedicine shows high correlation with the face-to-face modality, maintaining high sensitivity and specificity. These results make it an appropriate method for screening children of this age, although further larger studies are needed to corroborate it.
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20. Turecki SC, Payne TW. Peer Acceptance of Autistic College Students. J Autism Dev Disord;2025 (Mar 15)
As autistic young adults increasingly enter into higher education, many are faced with difficult social adjustment (e.g., making friends, acquiring social support) in college (McLeod et al. McLeod et al., Journal of Autism and Developmental Disorders 49:2320-2336, 2019). Understanding peer acceptance of autistic college students is critical for community growth toward an equitable education experience. Predictors of autism acceptance, such as knowledge of autism, quantity and quality of experience with autism, and family relationships were explored. Acceptance of autism was assessed with a standardized vignette describing behavior of a hypothetical peer on campus, with no disclosure of a diagnosis (Nevill & White (Nevill and White, Journal of Autism and Developmental Disorders 41:1619-1628, 2011). Following the reading, participants made ratings on statements regarding willingness to engage and interact with the hypothetical case. Results revealed a positive correlation between raters’ quality of past experience with autism and their acceptance of a hypothetical autistic peer. Knowledge and quantity of experience did not predict acceptance. Having an autistic family member was also not associated with higher acceptance, however, the closeness of relationships with diagnosed family members was positively correlated with acceptance. These findings promote the idea that increasing acceptance of autistic college students could be facilitated through high quality social experiences with autistic individuals.
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21. Villasis-Keever M, Trujillo-Flores JH, Ocaña-Zavaleta A, Ortega-Lomelín PM, Delaflor-Wagner CA, Soto-Briseño AI, Hernández-Trejo LA, García-Aranda JA, Aceves-Villagrán D, Reyes-Morales H, Rizzoli-Córdoba A. Effects of 6 months of permanence in an early intervention program on the developmental level of children 18-42 months of age in poverty: cohort study. Bol Med Hosp Infant Mex;2025;82(Supl 1):86-93.
BACKGROUND: The Child Care Facilities Program (PEI, for its Spanish acronym) in Mexico targets parents of children aged 1-3 years living in poverty, providing education and care strategies 5 days a week. This study aimed to evaluate the impact of a 6-month stay in childcare centers on the developmental levels of children under 4 years old. METHODS: A longitudinal, before-and-after study was conducted. Children aged 12-42 months enrolled in the PEI were included in the study. All participants remained in the program for 6 months from the first measurement. The overall and area-specific developmental levels were assessed using the Early Childhood Development Assessment (EDI, for its Spanish acronym) test. The percentages of developmental levels (normal, delayed, and at risk of delay) were compared between the baseline and 6-month assessments using the McNemar test. RESULTS: The study included 1835 children, of whom 52% were male. The age distribution was as follows: 28.1% were 12-24 months old, 48.4% were 25-36 months old, and 23.5% were 37-42 months old. At baseline, 80.5% (n = 1,476) of the children were classified as having normal overall development, 16% had developmental delay, and 3.5% were at risk for delay. After 6 months, the percentage of children with normal development increased to 90.1%, while those with developmental delay and those at risk for delay decreased to 8.7% and 1.2%, respectively. Similar improvements were observed across various developmental areas, except in the knowledge area. CONCLUSIONS: A 6-month stay in childcare centers is beneficial for improving the developmental levels of children under 4 years old, both overall and in motor, language, social, and cognitive areas.