Journal of Neurodevelopmental Disorders最新文献

{"title":"Using eye tracking to explore the relationship between autism traits, joint attention, cognition and adaptive functioning in preschool children.","authors":"Anthea A Stylianakis, Hannah Pincham, Sparsh Chawla, Nisha E Mathew, Valsamma Eapen","doi":"10.1186/s11689-026-09714-z","DOIUrl":"10.1186/s11689-026-09714-z","url":null,"abstract":"<p><p>There is significant heterogeneity in clinical presentations, brain-imaging findings, and genetic underpinnings of autism. Autism traits, particularly social affect and joint attention, and related domains of adaptive functioning and cognitive development, are key characteristics in determining autism \"profiles\". This study aimed to understand such baseline profiles in preschool autistic children receiving early intervention (age range, 2-7 years old; sample size N = 67). We also examined the association between phenotypic pre-intervention characteristics and response to intervention using Early Start Denver Model (ESDM). Baseline characteristics prior to receiving early intervention demonstrated a link between eye tracking measure of joint attention, namely better gaze accuracy, and clinical profile of autism traits, particularly better social affect/social overtures and adaptive functioning. Further, better receptive and expressive language, visual reception and fine motor skills, and higher development quotients on a visual processing task, were found to be associated with more accurate eye movements on a joint attention task. Predictors of improvement in autistic traits post-intervention included higher age at entry to intervention and baseline developmental functioning. Specifically, social affect was found to change in the same direction as cognitive functioning post-ESDM intervention, especially with regard to visual reception, fine motor and receptive language skills. The findings also suggest that better social affect and joint attention, characterised by better social overtures and maintenance of attention, are predictive of more accurate eye gaze in a social exercise, thereby making these potential intervention targets in early intervention.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"18 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148865527","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":"Caregiver-reported relevance of the BRIEF-2 in youth with Down syndrome: an initial content validity study.","authors":"Natasha N Ludwig, Mary Godfrey, Rebekah Bosley, Alexandria Barkhimer, Luther G Kalb, Vini Singh, Amy Cohen, Tracie C Rosser, Laura J Mattie, George T Capone, Marie Moore Channell, Lisa A Jacobson","doi":"10.1186/s11689-026-09715-y","DOIUrl":"https://doi.org/10.1186/s11689-026-09715-y","url":null,"abstract":"<p><strong>Background: </strong>Establishing evidence of content validity, or how well a measure reflects the intended outcome, is essential for developing or selecting assessment tools that support individualized care and research in clinical populations like Down syndrome (DS). This study aimed to examine caregiver-reported relevance of a widely used measure of executive function in school-aged youth with DS, the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2), Parent Form. Specifically, this study focused on one aspect of content validity, relevance to the target population, which has yet to be systematically evaluated in DS.</p><p><strong>Methods: </strong>This study integrated data from two online studies of youth with DS. After completing the BRIEF-2, caregivers were asked forced-choice questions about the relevance of the measure to their child with DS, as well as an open-text question about their response strategy for items they deemed not relevant.</p><p><strong>Results: </strong>Caregivers of 281 youth with DS between the ages of 6-18 years (M = 12.7, SD = 3.4) reported on the relevance of the BRIEF-2 for their child. Just under half (46.3%) of caregivers reported that they deemed items not relevant. Of those caregivers who deemed items not relevant, just over half (57.7%) described their response strategy was to select \"Never\" for items that were not relevant; however, a range of strategies was employed. Caregivers rated the measure overall as moderately relevant to their child, although there was considerable range in ratings. Additionally, caregivers of youth who were ≤ 12 years old, had lower expressive language skills (i.e., no phrases/sentences) or lower adaptive function (> 2 SDs below the mean), rated items as not relevant to their child more often and provided lower overall measure relevance ratings than caregivers of youth who were older and/or had stronger functional skills.</p><p><strong>Conclusions: </strong>This initial evaluation of the content validity of the BRIEF-2 in school-aged youth with DS indicates that there is a range of caregiver viewpoints about measure relevance. Findings highlight the need for more comprehensive studies that engage patients/families and professionals to better understand the broader content validity of the BRIEF-2 in DS across ages and developmental levels to inform any modifications for use in future clinical and research contexts.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148447145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.","authors":"Salvatore Savasta, Francesco Fabrizio Comisi, Giovanni Battista Dell'Isola, Gabriele Di Pasquale, Ivy Johnson, Isabella Herman, Andrea Maria Comisi, Francesca Felicia Operto, Giuditta Bargiacchi, Daniëla Q C M Barge-Schaapveld, Giuseppe Donato Mangano, Marco Carotenuto, Vincenzo Salpietro, Alberto Verrotti","doi":"10.1186/s11689-026-09705-0","DOIUrl":"10.1186/s11689-026-09705-0","url":null,"abstract":"<p><strong>Background: </strong>Heterozygous variants in FBXW7 have recently been recognized as a cause of a rare neurodevelopmental disorder with variable developmental delay, neurological manifestations, and multisystem involvement. The breadth of clinical variability and penetrance remains incompletely defined.</p><p><strong>Cases presentation: </strong>We report a retrospective multicenter case series of seven previously unreported individuals (five males, two females) with heterozygous FBXW7 variants identified through clinical genetic testing, aged 5-9 years at last evaluation (median 6 years). Six variants occurred de novo and one was inherited. Neurodevelopmental involvement was present in six individuals and was characterized by global developmental delay and language impairment; hypotonia was observed in all seven. Formal intellectual disability was documented in four cases, while one individual showed preserved cognitive functioning with predominant behavioral difficulties. Epileptic seizures occurred in four individuals, whereas three had no history of epilepsy. Brain MRI was available for six individuals and was normal in four, whereas two showed structural anomalies involving the corpus callosum. Extracerebral features were variably reported, most commonly constipation and recurrent respiratory/otolaryngological infections. Comparison with previously reported individuals confirmed the core neurodevelopmental phenotype and further refined the spectrum.</p><p><strong>Conclusions: </strong>This case series expands the phenotypic spectrum associated with FBXW7-related neurodevelopmental disorder and highlights variable expressivity and incomplete penetrance, including clinically relevant variants presenting with mild or atypical phenotypes. These findings support considering FBXW7 across a broad range of neurodevelopmental presentations and inform genetic counseling.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"18 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13352821/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148421800","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":"Processing of emotional faces has unique functional and cytoarchitectural associations in those with an autism spectrum diagnosis.","authors":"Zachary P Christensen, Edward G Freedman, John J Foxe","doi":"10.1186/s11689-026-09716-x","DOIUrl":"10.1186/s11689-026-09716-x","url":null,"abstract":"<p><p>Those with an autism spectrum diagnosis (ASD) have been found to process emotional faces differently than other populations. Processing of emotional faces requires engagement of temporal, frontal, occipital, and limbic brain regions. Functional activity has been shown to differ in those with an ASD, particularly in the amygdala, inferior frontal cortex (IFC), and temporal brain regions. However, the consistency and direction of these associations have been inconsistent across studies. Recent findings have demonstrated that measures of neuron density differ in those with an ASD. Some of these regional differences in cytoarchitecture coincide with regions important to emotional facial processing. Therefore, the interaction between cytoarchitecture and functional activity may be important in elucidating unique neurophysiology in ASD. The present study uses diffusion weighted imaging (DWI) and functional magnetic resonance imaging (fMRI) data from the Adolescent Brain Cognitive Development^sm (ABCD®) study to investigate the relationship between cytoarchitecture and functional activity during emotional face processing in those with an ASD. 149 individuals with a reported ASD and 10,146 individuals with no reported diagnosis of an ASD (nASD) were identified. The emotional n-back (EN-Back) task was administered during fMRI acquisition, activating regions of the brain associated with processing emotional faces. Neuron cell body density was positively correlated with functional activation in the left amygdala in the ASD group but not the nASD group. These findings suggest that a unique relationship may exist between neuron cell body density in the left amygdala and functional activity while processing emotional faces in those with an ASD.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148404922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"X-chromosomal genetic variants and haplotype analysis in male cerebral palsy patients: insights into genetic susceptibility and sex-specific risk.","authors":"Yu Su, Yangong Wang, Ye Cheng, Yiran Xu, Yimeng Qiao, Lei Xia, Juan Song, Yunqian Li, Junjie Zhang, Hongyuan Sun, Xiaoyang Wang, Changlian Zhu, Qinghe Xing","doi":"10.1186/s11689-026-09717-w","DOIUrl":"10.1186/s11689-026-09717-w","url":null,"abstract":"<p><strong>Background: </strong>Cerebral palsy (CP) is a neurodevelopmental disorder with a significant male predisposition, yet the underlying genetic mechanisms driving this sex-specific risk remain poorly understood. Given the hemizygous state of X-linked variants in males, we hypothesized that X-chromosomal genetic variations may contribute to CP susceptibility in male patients.</p><p><strong>Methods: </strong>We performed an X-chromosome-wide association study (XWAS) using whole-exome sequencing (WES) data from 1,076 male CP patients and 1,057 healthy male controls of Chinese ancestry. Quality control, principal component analysis (PCA), and logistic regression were applied to identify risk loci for CP. Six candidate single nucleotide variants (SNVs) in UTP14A were genotyped via MassARRAY, and haplotype analysis was conducted using SHEsis.</p><p><strong>Result: </strong>We identified a significant association between the intronic variant rs2281277 in UTP14A and CP (P = 1.38E-05, FDR q-value = 0.0465, OR = 0.644). In addition to the lead SNV rs2281277, five other SNVs in UTP14A also showed a suggestive association with CP, including rs141750783, rs61318448, rs2273021, rs2281278, and rs111975985. Haplotype analysis further revealed a risk haplotype (CGTATC) defined by these six SNVs, which was associated with a 53.1% increased susceptibility to CP (P = 9.40E-8, OR = 1.531).</p><p><strong>Conclusion: </strong>This study nominates X-linked UTP14A as a candidate susceptibility locus for CP in male Chinese, which warrants replication based on large, independent cohorts and functional validation.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"18 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13332595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148382109","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":"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":"https://doi.org/10.1186/s11689-026-09718-9","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;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.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;1) AP Behavior: The DLD group scored higher than TD group on all dimensions of the PAPAS (P &lt; 0.05); main effects of the group (F = 54.303, P &lt; 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 &lt; 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 &lt; 0.05); the scores on each PAPAS dimension were positively correlated with the scores on each dimension of BRIEF-P (P-corrected &lt; 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 &lt; 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 &lt; 0.05).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;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":"","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":"","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":"","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":"","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}