Journal of Neurodevelopmental Disorders最新文献

{"title":"Exploring the relationship between auditory processing characteristics and cognition in preschool children with developmental language disorder based on fNIRS.","authors":"Wenmin Wang, Panting Liu, Bingzi Hao, Jia Zhou, Bilan Chen, Yuying Sun, Xinyue Yu, Tingyu Li, Yaqin Xu, Liping Meng, Lei Zhang, Jun Qian, Xia Chi, Qin Hong","doi":"10.1186/s11689-026-09718-9","DOIUrl":"10.1186/s11689-026-09718-9","url":null,"abstract":"<p><strong>Background: </strong>Auditory processing (AP) is a fundamental function in speech signal processing. The ability to process speech signals in noisy environments is commonly used to assess AP capabilities. Research on the AP characteristics in Chinese children remains scarce, and the relationship between AP and language/cognitive development has not been explored. This study investigated the AP performance of children with developmental language disorder (DLD) in daily life and under the standardized speech-in-noise (SIN) comprehension paradigm. Using functional Near-Infrared Spectroscopy (fNIRS) to monitor brain activation in real-time during noisy environments, the study analyzed the functional modes of targeted brain regions in Chinese DLD children under noisy environments, while also exploring the relationships between AP behaviors, brain activation patterns, and cognition.</p><p><strong>Methods: </strong>This cross-sectional study enrolled 34 Chinese preschool children with DLD and 43 age- and gender-matched typically developing (TD) children. Parents completed basic demographic information, the Preschool Auditory Processing Assessment Scale (PAPAS), and the Behavior Rating Scale of Executive Function-Preschool Version (BRIEF-P). A self-developed SIN comprehension paradigm adapted for Chinese preschool children with DLD was utilized, and fNIRS was employed to record brain activation patterns while the children performed the SIN comprehension task.</p><p><strong>Results: </strong>1) AP Behavior: The DLD group scored higher than TD group on all dimensions of the PAPAS (P < 0.05); main effects of the group (F = 54.303, P < 0.001) and listening condition (F = 11.83, P = 0.001) were significant for the accuracy (ACC). 2) Brain activation characteristics during the SIN comprehension task: The DLD group showed significantly lower activation than the TD group in the left dorsolateral prefrontal cortex (DLPFC), left Broca's area, bilateral superior temporal gyrus and middle temporal gyrus (STG and MTG), and right Wernicke's area (P-corrected < 0.05). 3) The AP total scores, auditory decoding scores, and hyperactivity impulse dimension scores of both groups of children were negatively correlated with the scores on each dimension of the DREAM-C and the WPPSI-IV/WISC-IV (P-corrected < 0.05); the scores on each PAPAS dimension were positively correlated with the scores on each dimension of BRIEF-P (P-corrected < 0.05). 4) The activation levels in the left DLPFC, left Broca's area, right Wernicke's area, and bilateral STG and MTG in both groups of children were positively correlated with all dimensions of the DREAM-C (P-corrected < 0.05). The activation levels in the left DLPFC, left Broca's area, right Wernicke's area, and right STG and MTG were positively correlated with the full-scale intelligence quotient and verbal comprehension index scores (P-corrected < 0.05).</p><p><strong>Conclusions: </strong>Children with DLD may exhibit AP abnormali","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13599336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148368671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DRP1 mutations associated with EMPF1 encephalopathy perturb the transcriptional profile and maturation of cortical neurons.","authors":"T B Baum, J Costanzo, C Bodnya, D P Boulton, M C Caino, D Mogilenko, A Zhelonkin, V Gama","doi":"10.1186/s11689-026-09713-0","DOIUrl":"10.1186/s11689-026-09713-0","url":null,"abstract":"<p><p>With the advent of exome sequencing, a growing number of children are being identified with de novo loss-of-function mutations in the dynamin 1-like (DNM1L) gene, which encodes the large GTPase essential for mitochondrial fission, dynamin-related protein 1 (DRP1). Mutations in DRP1 result in severe neurodevelopmental phenotypes, such as developmental delay, optic atrophy, and epileptic encephalopathies. Though it is established that mitochondrial fission is an essential precursor to the rapidly changing metabolic needs of the developing cortex, it is not understood how identified mutations in different domains of DRP1 uniquely disrupt cortical development and synaptic maturation. We leveraged the power of human induced pluripotent stem cells (iPSCs) harboring DRP1 mutations in either the GTPase or stalk domains to model early stages of cortical development in vitro. High-resolution time-lapse imaging of transport in neuronal projections revealed mutation-specific changes in mitochondrial motility of severely hyperfused mitochondrial structures. Transcriptional profiling of mutant DRP1 cortical neurons during maturation also implicated mutation-dependent alterations in synaptic development and gene expression of calcium-regulatory genes. Disruptions in calcium dynamics were confirmed using live functional recordings of 65-200 days in vitro (DIV) mutant DRP1 cortical neurons. These findings strongly suggest that altered mitochondrial morphology in DRP1 mutant neurons leads to pathogenic dysregulation of synaptic development and activity.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13563865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148330422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy in autism spectrum disorder: examining prevalence and associated factors in a large cross-sectional study.","authors":"Fouad Alshaban, Éric Fombonne, Iman Ghazal, Fatema Al-Faraj, Sarah Aqel, I Richard Thompson","doi":"10.1186/s11689-026-09711-2","DOIUrl":"10.1186/s11689-026-09711-2","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy and Autism Spectrum Disorder (ASD) frequently co-occur, yet the prevalence and factors associated with epilepsy within autistic individuals remain insufficiently defined. This study aimed to determine the prevalence of epilepsy and examine demographic, developmental, and medical correlates in a large cohort of autistic individuals in Qatar.</p><p><strong>Methods: </strong>We conducted a cross-sectional analysis of 1,257 autistic individuals recruited through clinical and research channels in Qatar. Bivariate and multivariable logistic regression analyses were used to identify factors associated with epilepsy, with false discovery rate correction applied for multiple comparisons.</p><p><strong>Results: </strong>Epilepsy was identified in 10.7% of the cohort, with affected individuals being significantly older (7.33 years) than those without epilepsy (6.59 years, p = 0.003). Factors associated with epilepsy included developmental delays-particularly in motor milestones such as delayed sitting (aOR = 2.954, p < 0.001) and walking (aOR = 3.289, p < 0.001)-and perinatal complications such as hypoxia (aOR = 3.188, p = 0.015). Behavioral features, including sleep disturbances (aOR = 5.167, p < 0.001) and anxiety (aOR = 2.334, p < 0.001), were also significantly associated.</p><p><strong>Conclusion: </strong>These findings highlight the complex interplay between developmental, behavioral, and perinatal factors associated with epilepsy within this cohort of autistic individuals and underscore the importance of systematic monitoring and multidisciplinary management to optimize outcomes in this cohort.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13488571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148252024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The prevalence of neurodevelopmental disorders in Smith-Magenis Syndrome: a PRISMA compliant systematic review.","authors":"Pauline Boiroux, Marie-Noëlle Babinet, Gabrielle Chesnoy, Paul Belhouchat, Caroline Demily","doi":"10.1186/s11689-026-09707-y","DOIUrl":"10.1186/s11689-026-09707-y","url":null,"abstract":"<p><strong>Background: </strong>Smith Magenis Syndrome is either due to a deletion in 17p11.2 locus or to a pathogenic variant in RAI1 gene and is associated with a higher risk of neurodevelopmental disorder. We performed a systematic review to assess the prevalence of neurodevelopmental disorders (autism spectrum disorder, attention deficit hyperactivity disorder, intellectual developmental disorder, specific learning disabilities) in Smith Magenis Syndrome as a main outcome. We described the methods used to identify a neurodevelopmental disorder in this population and assessed a phenotype-genotype correlation as secondary outcomes.</p><p><strong>Methods & results: </strong>Main electronic databases were searched on January 31^st, 2024. We considered original articles published in peer-reviewed journals. We selected studies with data concerning the prevalence of neurodevelopmental disorders in people with Smith-Magenis Syndrome. Quality was assessed based on sample identification, confirmation of syndrome, assessment of neurodevelopmental disorders and data coverage. 1941 articles were identified and 14 were included in this review. Data were synthesized and displayed as descriptive tables. No meta-analysis was performed due to the paucity of studies. In total, 451 patients presenting with Smith Magenis syndrome were assessed for neurodevelopmental disorders. 6 studies (n=220 patients) assessed autism spectrum disorder characteristics with prevalence ranging from 14% to 95%, and mean prevalence of 43% and 80% for deletion and RAI1 samples respectively. 6 studies assessed attention deficit hyperactivity disorder characteristics (n= 174 patients). Only one study assessed ADHD using standardized clinical criteria, reporting 100% prevalence. Other studies assessed impulsivity, hyperactivity, attention deficit with mean proportions of 78%, 76% and 96% respectively. 9 studies reported IDD prevalence, ranging from 67% to 100%. For deletion carriers, pooled prevalence was 93%, mostly moderate (43%), while 80% was reported for RAI1 carriers, mostly mild (69%). Specific learning disabilities were described for 9% of deletion 17p11.2 patients. Methods of assessment were very heterogeneous, consisting in the main limit of this study along with the paucity of articles included.</p><p><strong>Conclusions: </strong>In addition to IDD, ASD and ADHD phenotypes are often observed in Smith Magenis syndrome, with RAI1 carriers affected even more frequently despite a higher cognitive level. This systematic review highlights the need to systematically screen people with Smith Magenis syndrome for attention deficit hyperactivity disorder and autism spectrum disorder in addition to cognitive functions. Smith Magenis syndrome is a relevant model to further study physiopathology of neurodevelopmental disorder.</p><p><strong>Trial registration: </strong>(PROSPERO no.: CRD42024512675).</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13435750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148143580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early developmental trajectories associated with different styles and intensities of ESDM-based community intervention.","authors":"Liliana Ruta, Elisa Leonardi, Cristina Carrozza, Francesca I Famà, Agrippina Campisi, Stefania Aiello, Flavia Marino, Alfia Ruggieri, Sabrina Baieli, Daniela Mangiapane, Gaetano Vivona, Sebastiano Marciante, Gaspare Cusimano, Antonio Narzisi, Filippo Muratori, Antonella Gagliano, Costanza Colombi, Gennaro Tartarisco, Marilina Mastrogiuseppe, Sally J Rogers, Michael V Lombardo, Giovanni Pioggia","doi":"10.1186/s11689-026-09698-w","DOIUrl":"10.1186/s11689-026-09698-w","url":null,"abstract":"<p><strong>Background: </strong>The Early Start Denver Model (ESDM) is a naturalistic developmental behavioral intervention (NDBI) widely used to support early development in young autistic children. This study examines early developmental trajectories associated with different styles and intensities of ESDM-based intervention compared with community Therapy as Usual (TAU) over a 6-month period. It also explores predictors of individual language development based on the intervention style.</p><p><strong>Methods: </strong>A total of 112 autistic children participated in the study and were assessed longitudinally while receiving either higher (6 h a week) or lower (3 h a week) intensity ESDM, or TAU at higher (6 h a week) intensity (N = 29, 32, and 51 participants in each group, respectively).</p><p><strong>Results: </strong>The primary findings show that children receiving higher-intensity ESDM exhibited steeper developmental trajectories than children receiving TAU in all the developmental areas such as Language, Personal-Social skills, Performance, Eye-Hand coordination and the General score. Notably, lower-intensity ESDM was associated with steeper developmental gains in individual general development, language, personal social skills, and performance when compared to TAU at double the intensity. Additionally, secondary results indicate that language developmental trajectories are influenced by different factors in the ESDM and TAU groups, with social domain and adaptive behaviors predicting language progress in the ESDM group and baseline cognitive skills predicting language development in the TAU group.</p><p><strong>Conclusions: </strong>This study provides observational evidence that different intervention models and intensities may be associated with different short-term developmental trajectories in community settings, particularly where only limited weekly intervention hours are feasible. These findings may help inform service planning in low-resource contexts, while requiring replication in more controlled designs.</p><p><strong>Trial registration: </strong>Clinical Trial ID: NCT06494605.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13412173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Executive function and implications for the Preterm Behavioral Phenotype in very preterm children at age 9-10 years.","authors":"Rachel E Lean, Berenice Anaya, Lisa Gorham, Christopher D Smyser, Cynthia E Rogers","doi":"10.1186/s11689-026-09710-3","DOIUrl":"10.1186/s11689-026-09710-3","url":null,"abstract":"<p><strong>Background: </strong>Children born very preterm (VPT) have greater executive function (EF) challenges and internalizing, inattention, and social communication-interaction differences (the Preterm Behavioral Phenotype [PBP]) than full-term (FT) children. EF and PBP outcomes for VPT children with white matter injury (WMI) are less well understood. Furthermore, the extent that EF challenges serve as a neurocognitive mechanism for the PBP is unknown.</p><p><strong>Methods: </strong>As part of a longitudinal study, 123 VPT infants (≤ 30 weeks gestation) were recruited from a level-III neonatal intensive care unit and underwent developmental follow-up at ages 5 and 9-10 years. Forty-four VPT infants had high-grade WMI. Seventy-nine FT control children were also included. At the 5 and 9-10 year follow-up, children completed EF tasks tapping short-term/working memory, inhibitory control, and flexibility/shifting, which were combined into an EF composite at each timepoint. Parents and children also completed measures assessing children's attention-deficit/ hyperactivity, internalizing/anxiety, and social communication-interaction outcomes to generate parent- and child-informant PBP composites at age 9-10 years. Serial mediation analysis examined EF at ages 5 and 9-10 years as serial mediators linking VPT birth and WMI with the PBP, adjusted for covariate factors.</p><p><strong>Results: </strong>VPT and WMI children demonstrated lower EF abilities at both timepoints compared to FT children (p≤.02). VPT and WMI children obtained higher child-informant PBP composite scores (p<.001) as well as parent- and child-informant social communication-interaction and ADHD-inattentive problem ratings (p≤.03) at age 9-10 years. Lower EF at both timepoints correlated with higher parent- and child-informant PBP ratings (r -0.2 to -0.45, p<.05). Serial mediation analysis showed that EF development from age 5 to 9-10 years (proportion mediated 3-5%) as well as EF at age 9-10 years (proportion mediated 16-43%) partially mediated associations linking VPT birth and WMI with PBP outcomes.</p><p><strong>Conclusions: </strong>VPT and WMI children had greater EF and PBP challenges compared to FT children, with WMI children at greatest risk. Disrupted EF development, at least in part, contributed to the PBP. Findings suggest that VPT and WMI children are in need of early and ongoing EF supports, and that EF training interventions may improve mental health outcomes in this population.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13412151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative language performance in children and adolescents with 22q11.2ds syndrome and down syndrome.","authors":"Esther Moraleda-Sepúlveda, Miguel Lázaro-López-Villaseñor, Noelia Pulido-García, Hoda Benomar-Simou","doi":"10.1186/s11689-026-09701-4","DOIUrl":"10.1186/s11689-026-09701-4","url":null,"abstract":"<p><p>Genetically defined neurodevelopmental syndromes provide a framework for examining constraints on language development. This study compared language performance in children and adolescents with 22q11.2 deletion syndrome (22q11.2DS; n = 40) and Down syndrome (DS; n = 40), matched for age and nonverbal cognitive ability, aged 6-16 years. Standardized assessments included the Clinical Evaluation of Language Fundamentals (CELF-5) and the BLOC-C to evaluate multiple receptive and expressive language domains. Group differences, effect sizes, and associations with age were analyzed to characterize syndrome-specific profiles. Children with 22q11.2DS demonstrated relatively stronger receptive vocabulary and syntax alongside weaker morphosyntactic and pragmatic skills, with vocabulary showing moderate positive associations with age. In contrast, the DS group exhibited generally lower performance across domains, with pronounced difficulties in morphosyntax and limited age-related gains. These findings highlight differences in overall level of performance and relative strengths within a globally impaired profile across syndromes and emphasize the value of multi-dimensional assessment in capturing both age-related patterns and vulnerabilities.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13397742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148031419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.","authors":"Laura Sandoni, Fethia Chehbani, Lisa Asta, Michela Camia, Arianna Ricciardello, Pasquale Tomaiuolo, Francesca Cucinotta, Laura Turriziani, Maria Boncoddo, Fabiana Bellomo, Marco Baccarin, Chiara Picinelli, Paola Castronovo, Roberto Sacco, Carla Lintas, Ignazio Stefano Piras, Francesco Pelagatti, Federico Banchelli, Riccardo Cuoghi Costantini, Roberto D'Amico, Antonio M Persico","doi":"10.1186/s11689-026-09708-x","DOIUrl":"10.1186/s11689-026-09708-x","url":null,"abstract":"<p><strong>Background: </strong>Phelan-McDermid syndrome (PMS) is caused in the majority of cases by the loss or mutation of one allele of the SHANK3 gene, located in human chr 22q13.33. PMS displays large interindividual differences in clinical severity and longitudinal trajectory. Other genes located in this chromosomal region are known to contribute to the clinical phenotype (CELSR1, TCF20) in patients with larger deletions. The aim of this study is to identify clinically-relevant phenotypic features significantly influenced by the size of chromosome 22q terminal deletion and to identify new potential candidate genes likely to be involved in these phenotypic effects.</p><p><strong>Methods: </strong>Genotype-phenotype correlations were investigated in 63 PMS patients directly ascertained by deep clinical phenotyping and determination of deletion size (Agilent CGH-array 180K or 400K). Patients were partitioned into eleven categories, based on deletion size (Mb). Phenotypic variables significantly influenced by deletion size were initially detected by exact χ² (10,000 iterations) and Kendall's Tau. Candidate genes were then sought using: (a) ROC curves for binary dichotomous variables; (b) best separation threshold for quantitative variables.</p><p><strong>Results: </strong>Phenotypic variables significantly associated with chromosome 22q deletion size in our sample include: expressive language (p < 0.001); motor development timing (p < 0.001); gait (p < 0.001); muscle strength (p < 0.01); social cognition, encompassing eye contact, exchange gesture, and joint attention (p < 0.001-< 0.05); infectious diseases coincident with the onset of behavioral manifestations (p < 0.001); brain structural abnormalities on MRI (p < 0.001); dysmorphisms (p < 0.001); renal and urinary malformations (p < 0.01); comorbid lifelong bipolar disorder (p < 0.05). The best separation thresholds for many of these variables were located within or nearby genes playing important morphogenetic (PLXNB2, TAFA5) or neurodevelopmental roles (BRD1, TBC1D22A, ATXN10 and/or FBLN1). For renal malformations, the two best thresholds point toward one long non-coding RNA and a cluster of antisense RNAs.</p><p><strong>Conclusions: </strong>The genes identified in this study appear as strong candidates to contribute to the PMS phenotype, by conferring an additional layer of abnormal neurodevelopment and impaired morphogenesis to the disruptive effects produced by SHANK3 haploinsufficiency.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13584495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148031453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations among maternal prenatal depression, maternal autism traits, and child autism traits in the Environmental Influences on Child Health Outcome (ECHO) program.","authors":"Chaela Nutor, Anne L Dunlop, Patricia A Brennan","doi":"10.1186/s11689-026-09709-w","DOIUrl":"10.1186/s11689-026-09709-w","url":null,"abstract":"<p><strong>Background: </strong>Maternal depression during pregnancy has been associated with increased risk of offspring autism spectrum disorder (ASD) - a highly heritable neurodevelopmental disorder. However, no study to date has taken into account maternal ASD traits in the association between maternal prenatal depression and child ASD.</p><p><strong>Methods: </strong>This study utilized data from the Environmental Influences on Child Health Outcomes (ECHO) consortium-a large, national prospective longitudinal study-to examine maternal ASD traits as a covariate and moderator in the association between maternal prenatal depression and child ASD traits. Participants were 645 mother-child dyads. Mothers self-reported prenatal depressive symptoms and ASD traits. Child ASD traits were rated by parents using the Social Responsiveness Scale and Child Behavior Checklist. Maternal depression and child ASD diagnoses were either parent-reported or from medical record review.</p><p><strong>Results: </strong>We found that both maternal prenatal depressive symptoms and depression diagnoses predicted child ASD traits (β's > .04, p's < .003). These associations remained significant after accounting for maternal ASD traits for the CBCL only (β's > .42, p's < .001). Maternal prenatal depression did not predict child ASD diagnoses. Maternal ASD traits predicted child ASD traits and diagnoses (β's > .06, p's < .001). Maternal ASD traits did not moderate the association between maternal prenatal depression and child ASD traits.</p><p><strong>Conclusion: </strong>Providers might consider early screening for ASD in children of mothers with a history of elevated depressive symptoms during pregnancy.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13536670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147987930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between language and executive functions in adolescents with Down syndrome and fragile X syndrome.","authors":"Audra Sterling, Marianne Elmquist, Amy Banasik, Brittany Ciullo, Tiffany Chavers Edgar, Jill Hoover","doi":"10.1186/s11689-026-09697-x","DOIUrl":"10.1186/s11689-026-09697-x","url":null,"abstract":"<p><strong>Background: </strong>Individuals with fragile X syndrome (FXS) and Down syndrome (DS) have significant and pervasive challenges in language (and more specifically grammar) and executive functions (EFs). While these aspects of development are linked in autism and developmental language disorder, there has not been an investigation into this in FXS and DS. Thus, the purpose of this study was: 1) to evaluate the feasibility of experimental tasks for language and EFs, 2) to test if there are differences in language and EFs in DS and FXS, and 3) to test if EFs are related to grammatical abilities in DS and FXS within and between groups.</p><p><strong>Methods: </strong>Participants included 21 boys with FXS and 25 participants with DS (n = 9 females) between 9-17 years of age; groups were matched on chronological age (variance ratio = 1.13; d = 0.04, p = 0.897) and were similar on nonverbal IQ and vocabulary. Participants completed lab-based assessments including standardized assessments of nonverbal IQ and vocabulary, experimental measures of grammar (i.e., grammatical judgment and sentence imitation), three experimental executive function tasks, and a parent report of executive functions.</p><p><strong>Results: </strong>While there were participants who could not complete the tasks, overall the feasibility was high (72-91% participants completed the tasks). Wilcoxon rank-sum tests revealed no significant group differences in experimental grammar or EF tasks. In contrast, large differences emerged on parent-reported EFs, with greater impairment in FXS for shifting and inhibition. We used generalized linear regression models with Gaussian and binomial distributions to examine the relationships between EFs and grammatical abilities. We found that only working memory significantly predicted grammatical judgment.</p><p><strong>Conclusions: </strong>Participants with DS and FXS showed similar grammatical production and comprehension skills, contrasting with prior studies that relied on standardized testing and found more impaired production skills for children and adolescents with DS. Our sentence imitation task highlighted expressive grammar skills in DS, while grammaticality judgment posed challenges as a measure of grammar comprehension. Feasbility was good for all tasks, but there was a range, and younger participants in particular seemed to struggle with some of the tasks. The contrast in group differences between experimental and parent-reports of EFs calls into question whether the two measure EFs in a similar manner. Lastly, our study suggests that the language-EF relationships in intellectual disabilities may diverge from patterns documented in neurotypical development and language impairment without intellectual disability.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13366993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147982161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}