Journal of Neurodevelopmental Disorders最新文献

{"title":"Transcranial direct current stimulation on social communication among children and adolescents with autism spectrum disorder: a systematic review and meta-analysis.","authors":"Maryam Alabbad, Shibili Nuhmani, Raafat Ahmed, Shahid Bashir, Muhammad Ajmal Khan, Turki Abualait","doi":"10.1186/s11689-026-09672-6","DOIUrl":"10.1186/s11689-026-09672-6","url":null,"abstract":"<p><p>BACKGROUND: Transcranial direct current stimulation (tDCS) has gained attention as a potential intervention to improve social cognition in children with autism spectrum disorder (ASD). However, its effects across social domains and the influence of stimulation parameters remain unclear. This systematic review and meta-analysis evaluate the effectiveness of tDCS in enhancing social functioning in children with ASD, focusing on emotion recognition, theory of mind (ToM), and social responsiveness. METHODS: A comprehensive search identified randomized controlled trials (RCTs) investigating tDCS effects on social cognition in children with ASD. Studies were assessed for effect sizes and statistical significance. A meta-analysis pooled results, and moderators of tDCS effectiveness were examined. RESULTS: Screening 14 studies revealed that anodal tDCS applied to the left dorsolateral prefrontal cortex (DLPFC) produced the most consistent improvements in emotion recognition, ToM, and social responsiveness. However, results varied, with some studies reporting improvements, while others showed no substantial effects. Dual-stimulation or cathodal stimulation yielded mixed outcomes. Evidence was limited by small sample sizes, risk of bias, and variability in stimulation parameters. CONCLUSIONS: Anodal tDCS over the left DLPFC shows promise for improving social cognition in ASD. Larger controlled trials are needed to determine the effectiveness of combining tDCS with social skills training. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12998153/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003739","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":"Extra-axial cerebrospinal fluid volumes from 6 to 24 months of age are associated with poorer executive function at school-age in children with and without autism.","authors":"Yichi Zhang, Joshua Rutsohn, Sun Hyung Kim, Juhi Pandey, Robert T Schultz, Lonnie Zwaigenbaum, Catherine Burrows, Stephen R Dager, Tanya St John, Annette M Estes, Robert C McKinstry, Natasha Marrus, John R Pruett, Martin Styner, Heather C Hazlett, Joseph Piven, Mark D Shen, Dea Garic","doi":"10.1186/s11689-025-09671-z","DOIUrl":"10.1186/s11689-025-09671-z","url":null,"abstract":"<p><p>BACKGROUND: Abnormally increased extra-axial cerebrospinal fluid (EA-CSF) volume is present as early as 6 months in infants later diagnosed with autism and is associated with symptom severity at the age of diagnosis, but it is unknown whether early EA-CSF enlargement has long-term impacts on other clinical domains. Executive function (EF) deficits are frequently observed in children with autism and are linked with worse academic outcomes, higher anxiety, and lower adaptive functioning. The current study examines the association between EA-CSF volume at infancy and EF at school age in a longitudinally phenotyped cohort of children with either high (HL) or low (LL) familial likelihood for autism. METHODS: In this prospective study, 239 infants underwent MRI scans during natural sleep at 6, 12, and 24 months of age. HL was defined as having an older sibling with autism. The sample was divided into three diagnostic groups: HL infants who were diagnosed with autism at 24 months (HL+, n = 34), HL infants not diagnosed with autism (HL-, n = 131), and LL infants without autism (LL-, n = 74). Two parent-rating scales of EF were collected at the school-age follow-up (Mage= 10.4 years ± 1.34): the Behavior Rating Inventory of Executive Function (BRIEF) and Conners Parent Short Form. ANOVA was used to test for diagnostic group differences in EF. Longitudinal mixed-effects models utilized EA-CSF volumes in infancy to predict EF at school-age, while controlling for IQ, sex, total cerebral volume, and diagnostic group. RESULTS: Consistent with previous literature, HL + participants had greater EF deficits than both HL- and LL- on the BRIEF (F = 18.46, p < .0001) and greater EF deficits than LL- on the Conners (F = 8.55, p < .001). Further, higher EA-CSF volumes during infancy were associated with poorer executive function eight years later on both BRIEF (ß=0.18, p < .001) and Conners (ß=0.18, p < .001). This association between EA-CSF and executive function was observed across familial likelihood and diagnostic groups. CONCLUSIONS: Our study indicates that elevations in EA-CSF volumes during infancy, even in those who do not have autism, have long-term associations beyond autism symptomatology. These findings underscore the potential link between infant CSF physiology and future behavioral domains such as executive function at school age. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":"9"},"PeriodicalIF":3.6,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12892752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989445","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":"An assessment of autistic and parkinsonian movement profiles to inform selective classification algorithms.","authors":"Lydia J Hickman, Dagmar S Fraser, Joseph M Galea, Francesca Happé, Jennifer L Cook","doi":"10.1186/s11689-025-09668-8","DOIUrl":"10.1186/s11689-025-09668-8","url":null,"abstract":"<p><strong>Background: </strong>Movement differences in autism have attracted growing attention in recent years. Anecdotally, autistic movement has been likened to that of Parkinson's Disease (PD). Given that PD assessments are primarily movement-based, it is important to ensure that autistic individuals are not scoring highly on PD diagnostic criteria due to autism-related movement differences. Quantifying overlap in movement profiles and identifying distinguishing features is essential, particularly given increased PD diagnosis rates in the autistic population.</p><p><strong>Methods: </strong>We conducted the first direct comparison study of autistic and parkinsonian movement. Autistic individuals (N = 31), individuals with PD (N = 32) and control participants (N = 31) completed a Shapes Tracing Task and a Reaction Time Task. Kinematic features were compared between groups and classification algorithms were run to distinguish between groups.</p><p><strong>Results: </strong>Groups were distinguishable based on kinematic features. The autistic group differed from both PD and control groups in speed modulation and sub-movements, and from the PD group in reaction time. Classification algorithms for clinical (autism and PD) versus non-clinical groups, and for autism versus PD, were most accurate when combining kinematic and questionnaire data. There were no kinematic similarities between autism and PD that were also distinct from controls.</p><p><strong>Conclusions: </strong>Whilst kinematic features did not appear similar between autism and PD, they were informative for group classification. This proof-of-concept study highlights that movement-based metrics may aid in identifying whether someone belongs to a clinical group, and which one - suggesting potential for refining diagnostic approaches for both autism and PD.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":"8"},"PeriodicalIF":3.6,"publicationDate":"2026-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12882580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145944593","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":"Longitudinal Rett syndrome behaviour questionnaire scores and their associations with genotype and trajectories of mobility, weight and seizure frequency status.","authors":"Jenny Downs, Kingsley Wong, Dilesh Doshi, Helen Leonard","doi":"10.1186/s11689-025-09669-7","DOIUrl":"10.1186/s11689-025-09669-7","url":null,"abstract":"<p><p>INTRODUCTION: The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency. METHODS: Females in the Australian Rett Syndrome Database who were genetically confirmed with RSBQ data collected between 2000 and 2019 were included. The age trend was modelled with mixed-effects linear regression. Unique trajectory classes for total RSBQ scores and time-varying predictors (mobility, weight-for-age z scores, seizure frequency) were identified with group-based trajectory modelling. Associations between genotype, time-varying predictors and RSBQ total score class memberships were assessed with multinomial logistic regression. RESULTS: There were 1,034 questionnaires collected from 298 individuals (age range 1.7-37.9 years) with a median of 3 (range 1-7) per person. For individuals aged 5 to 20 years at first RSBQ response, the mean (95% CI) scores were 43.9 (40.7, 47.1) at age 5 and 42.0 (39.9, 44.2) at age 20. Total score trajectories clustered into low and middle groups where scores decreased steadily, and a high group which decreased after age 20. Compared to independent walking, assisted walking increased the probability of being in the high-scoring RSBQ group. Very low weight (<-6 z score) increased the probability of being in the medium or high-scoring group. Weak associations were found with seizure frequency and genotype. CONCLUSION: RSBQ total scores declined with increasing age suggesting improvement in the behavioural and emotional phenotype with age and time. There were few relationships between RSBQ scores and indicators of clinical severity. These natural history data form a baseline for comparison as new treatments become available. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":"6"},"PeriodicalIF":3.6,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12870306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145917862","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 sleep challenges in CDKL5 Deficiency Disorder.","authors":"Helen Leonard, Emma Szepe, Mohammed Junaid, Kingsley Wong, Jacinta Saldaris, Jenny Downs","doi":"10.1186/s11689-025-09666-w","DOIUrl":"10.1186/s11689-025-09666-w","url":null,"abstract":"<p><p>BACKGROUND: Sleep disturbance is a common and significant issue for individuals with CDKL5 Deficiency Disorder (CDD) and their families. The study aimed to investigate experiences of sleep disturbance in CDD and associated factors. METHODS: Data were sourced from the baseline and follow-up questionnaires completed by caregivers of 258 individuals in the International CDKL5 Disorder Database. Outcome variables were scaled scores for selected domains of the Sleep Disturbance Scale for Children: Disorders of Maintaining Sleep (DIMS), Disorders of Excessive Somnolence (DOES), Sleep Breathing Disorders (SBD), and Sleep-Wake Transition Disorders (SWTD). For DIMS and SBD, t scores were calculated and dichotomised into high (≥ 70) and low (< 70) groups. Through univariable and multivariable Poisson and logistic regression analyses, the relationships between the sleep disturbance domains and covariates, including sex, age group, genetic variant, motor skills, seizure frequency and patterns, medication use and side effects, constipation, and emotional behaviours, were examined. Caregivers also provided qualitative data on their children’s sleep abnormalities. Content analysis assessed caregivers’ responses to the prompt, “Is there anything about your child’s sleeping that you consider unusual or problematic?”. RESULTS: Individuals  ≥18 years old had an adjusted mean DIMS scaled score 6.49 (95% CI -12.44,-0.55) points lower than those aged 3–5 years. Daily seizures were associated with lower DIMS (-6.65, 95% CI -11.52,-1.78) and higher SBD (7.09, 95% CI 2.39,11.79) scores. Those whose parents reported constipation had more than twice the odds of a high DIMS t score (2.39, 95% CI 1.24,4.62). The mean DOES-mod score was 6.92 (95% CI 0.40,13.44) points higher in those able to sit and walk than in those unable to sit and walk, and was higher in adolescents and adults. Occurrence of seizures during night-time sleep was associated with higher SWTD-mod scores (4.09, 95% CI -0.15,8.32). Caregivers reported insomnia (sleep initiation and maintenance), “night parties” (possibly reflecting disrupted circadian rhythms), and daytime somnolence affecting functioning as major concerns, with seizure timing and frequency, gastrointestinal symptoms, and medication use identified as contributing factors. CONCLUSIONS: Functional abilities and comorbidities influenced sleep. Reducing the impacts of constipation and side-effects of anti-seizure medications on sleep could improve sleep and enhance child and family wellbeing. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12977783/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145896671","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":"GABAergic regulation of Locus coeruleus activity in necdin-deficient mice, an animal model of Prader-Willi syndrome.","authors":"Li-Ping Tsai, Hao Chan, Wei-Chen Hung, Ming-Yuan Min, Sin-Jhong Cheng, Chen-En Yang, Chun-Hsien Yu, Shi-Bing Wong","doi":"10.1186/s11689-025-09667-9","DOIUrl":"10.1186/s11689-025-09667-9","url":null,"abstract":"<p><strong>Background: </strong>Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of paternally expressed genes on chromosome 15q11-13, including NDN, which encodes necdin. Necdin deficiency has been linked to impaired visuospatial memory, social recognition, and stress regulation-features also seen in PWS. Previous work showed that necdin-deficient (Ndn + m/-p) mice exhibit reduced activity of noradrenergic neurons in the locus coeruleus (LC), a nucleus essential for arousal and stress responses. However, the mechanisms underlying LC hypoactivity remain unclear. Because GABAergic signaling is critical for LC excitability, this study examined the role of GABA_A ​and GABA_B ​receptor-mediated inhibition in Ndn + m/-p mice.</p><p><strong>Methods: </strong>Electrophysiological recordings from brainstem slices of wild-type (WT) and Ndn + m/-p mice were used to measure spontaneous firing rates (SFRs) of LC noradrenergic neurons. The effects of bicuculline (GABA_A​ antagonist) and CGP54626 (GABA_B​ antagonist) were tested. Whole-cell patch-clamp recordings assessed receptor-mediated currents. Western blotting quantified receptor subunit expression in peri-LC tissue. Immunocytochemistry and ELISA examined GABA_B​ receptor expression and GABA release in cultured astrocytes.</p><p><strong>Results: </strong>LC-NE neurons in Ndn + m/-p mice exhibited significantly reduced baseline SFR compared with WT. Bicuculline did not alter firing in either genotype, whereas CGP54626 significantly increased SFR in WT but not in Ndn + m/-p neurons, indicating impaired GABA_B receptor-mediated tonic inhibition. Whole-cell patch-clamp experiments confirmed intact GABA_A receptor-mediated inward currents in both genotypes, while no GABA_B receptor-mediated phasic currents were detected. Western blot analysis revealed comparable expression of GABA_A receptor α2 subunit and GABA_BR1 in peri-LC tissue between WT and Ndn + m/-p mice, suggesting functional rather than expression-level deficits. GFAP-positive cell density in the LC region was unchanged in vivo; however, in astrocyte cultures, Ndn + m/-p astrocytes exhibited greater proliferation by DIV 19 and consistently secreted higher levels of GABA, with significant elevations at later culture stages.</p><p><strong>Conclusion: </strong>Necdin deficiency selectively disrupts GABA_B receptor-mediated tonic inhibition of LC-NE neurons while preserving GABA_A receptor function. Elevated astrocytic proliferation and GABA release may further enhance ambient inhibition, contributing to LC hypoactivity and the neurobehavioral phenotypes of PWS. These findings identify GABA_B receptor dysfunction and astrocytic dysregulation as potential mechanistic targets for therapeutic intervention in PWS.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":"5"},"PeriodicalIF":4.0,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12859883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145863189","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":"MRI patterns and clinical outcomes in cerebral palsy: insights from a large MRICS-based cohort.","authors":"Junying Yuan, Kejie Cao, Dong Li, Jiefeng Hu, Xuejie Wang, Wending Xin, Lingling Zhang, Yiran Xu, Changlian Zhu","doi":"10.1186/s11689-025-09661-1","DOIUrl":"10.1186/s11689-025-09661-1","url":null,"abstract":"<p><strong>Background: </strong>To classify MRI patterns in children with cerebral palsy (CP) using the MRI Classification System (MRICS) and examine their associations with perinatal risk factors and clinical outcomes.</p><p><strong>Methods: </strong>This retrospective cohort study included 1,403 children with CP who underwent post-neonatal cranial MRI between 2011 and 2020. MRI patterns were categorized using MRICS. We analyzed the associations between MRI findings and perinatal risk factors (e.g., gestational age, birth weight, sex, perinatal adversity, plurality) using univariate and multivariable multinomial logistic regression. Clinical outcomes-including CP subtype, gross motor function, intellectual disability, epilepsy, and composite impairment index-were assessed using chi-square, Kruskal-Wallis tests, and correspondence analysis.</p><p><strong>Results: </strong>MRI abnormalities were observed in 86.5% of children, with predominant white matter injury (PWMI) being most common (46.5%). Preterm birth and perinatal adversity significantly increased the risk of PWMI and PGMI. PWMI was linked with spastic CP, better motor outcomes, and lower rates of intellectual disability. In contrast, PGMI and maldevelopments were associated with epilepsy, hearing loss, and severe impairment. Importantly, a subset of children with normal MRI findings still exhibited substantial functional impairments, emphasizing the limitations of structural imaging alone.</p><p><strong>Conclusions: </strong>MRI patterns, as classified by MRICS, provide critical insight into the neurodevelopmental heterogeneity of CP. Normal MRI findings do not preclude significant clinical impairment, underscoring the need for integrated neuroimaging and clinical-genetic assessment in CP management.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"75"},"PeriodicalIF":4.0,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12754938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145863184","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":"Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models.","authors":"Anubhuti Goel, Khaleel A Razak, Alexander A Chubykin, Michelle W Antoine","doi":"10.1186/s11689-025-09634-4","DOIUrl":"10.1186/s11689-025-09634-4","url":null,"abstract":"<p><p>Fragile X Syndrome (FXS), the leading known inherited cause of atypical behaviors associated with autism spectrum disorders (ASD), arises due to the reduced expression or absence of the Fragile X Messenger Ribonucleoprotein 1 (FMRP). Individuals with ASD and FXS often experience atypical sensory processing across modalities such as touch, hearing, and/or vision. The consequences of altered sensory processing can be debilitating, leading to impairments in sensory discrimination and an inability to filter out irrelevant sensory stimuli such as innocuous sounds, smells, sights, or touches. Currently, there is a significant knowledge gap in the field of FXS regarding the circuit mechanisms that drive atypical sensory processing and how these contribute to hypersensitivity and secondary effects, such as learning impairments and increased anxiety. Animal models of FXS mirror many of the sensory hypersensitivity issues observed in humans, exhibiting heightened anxiety, as well as learning and social impairments. Here, we discuss the dysfunctional neural dynamics underlying atypical sensory processing across modalities in FXS, potential therapeutic interventions targeting specific ion channels, receptors, and circuits, and propose future research directions that could pave the way for circuit-targeted therapies.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"74"},"PeriodicalIF":3.6,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12755031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145863101","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":"Clinical and neuropsychological characterization of Jacobsen syndrome (del11q).","authors":"Alexandra Garriz-Luis, Elisa Rodríguez-Toscano, Mónica Burdeus-Olavarrieta, Celso Arango, Mara Parellada, Covadonga M Díaz-Caneja","doi":"10.1186/s11689-025-09659-9","DOIUrl":"10.1186/s11689-025-09659-9","url":null,"abstract":"<p><strong>Background: </strong>Jacobsen Syndrome (JS), also known as 11q Deletion Syndrome (del11q), is a rare genetic disorder affecting approximately 1 in 100,000 births that presents with varied clinical manifestations and severities including intellectual disability, psychomotor delays, and distinctive physical traits. This study offers a detailed analysis of the clinical and cognitive profiles of individuals with JS and examines how these characteristics are related to each other and to genetic variables.</p><p><strong>Methods: </strong>Twenty-nine participants with JS (20 female, mean age 12.48 years, SD = 9.13) underwent standardized assessments assessing cognitive functioning, adaptive behavior, autistic traits, and general psychopathology. A CGH array was used to assess genetic deletions. We employed descriptive and inferential statistical analyses to explore the association between clinical and cognitive characteristics and deletion size.</p><p><strong>Results: </strong>Sixty percent of participants had verbal language. Mean intelligence quotient was 50.18, the range of adaptive functioning was very broad, and 43% showed behaviors exceeding the ADOS-2 cutoff for autism spectrum classification. A higher cognitive performance was associated with better adaptive skills, including more advanced language skills and with more depressive symptoms or a diagnosis of depression. Larger deletions were associated with more delays in developmental milestones and poorer cognitive functioning. No significant association was found between haploinsufficiency of the KIRREL3 and ARHGAP32 genes and cognitive functioning or autistic characteristics.</p><p><strong>Conclusions: </strong>Our findings provide deeper insights into the complex relationship between genetic factors and clinical attributes in individuals with JS, revealing notable clinical variability within the JS population. This information may help predict developmental difficulties as genetic findings emerge.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":"4"},"PeriodicalIF":4.0,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12831456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145794155","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":"Clinical, translational and developmental biomarkers associated with intellectual and developmental disabilities across the lifespan.","authors":"Maya Opendak, Gabriel S Dichter, Christine Wu Nordahl","doi":"10.1186/s11689-025-09660-2","DOIUrl":"10.1186/s11689-025-09660-2","url":null,"abstract":"","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"72"},"PeriodicalIF":4.0,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12713260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774758","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}