Journal of Neurodevelopmental Disorders最新文献

{"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":"https://doi.org/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":4.0,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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}

{"title":"Decreased attention in 10- and 14-month-olds with neurofibromatosis type 1 and association with later ADHD traits.","authors":"Tessel Bazelmans, Francesca Penza, Jannath Begum-Ali, Chloe Taylor, Mark H Johnson, Tony Charman, Jonathan Green, Shruti Garg, Emily J H Jones","doi":"10.1186/s11689-026-09702-3","DOIUrl":"10.1186/s11689-026-09702-3","url":null,"abstract":"<p><strong>Background: </strong>Identifying precursors to ADHD, which affects up to 5% of children, is crucial for early identification and support. To this end, we used a prospective sample to investigate endogenous attention and activity level in infants with and without an elevated likelihood (EL) for ADHD and investigated associations with ADHD traits at 3-years. EL status was based on a family history of autism and/or ADHD or a diagnosis of neurofibromatosis type 1 (NF1), a genetic condition associated with higher rates of ADHD.</p><p><strong>Methods: </strong>Infants (n = 26 typical likelihood (TL), n = 70 EL-autism, n = 28 EL-ADHD, n = 18 EL-autism + ADHD, and n = 29 NF1) participated in a live puppet task at 10 and/or 14 months. Mixed-effect models compared groups on behaviourally coded Focused Attention and Vigilance (i.e. Sustained Attention) and Movement, which was measured concurrently using an accelerometer to capture activity during these distinct attention states. Finally, we examined the bivariate associations of Attention and Movement, and their interaction, with 3-year parent-reported ADHD traits.</p><p><strong>Results: </strong>Infants with NF1 exhibited less Focused Attention and Vigilance than EL-ADHD [t (1,170) = 3.53, p = .005] or EL-autism [t (1,170) = 5.43, p < .001] infants and this did not differ across age. There were no Attention differences between the EL and TL groups and no Group or age differences in Movement, however Movement did vary by Attention type: [Formula: see text](2) = 215.25, p < .001 (Focused Attention < Vigilance < Looking elsewhere). Across the cohort, less Focused Attention at 10 months (rs = -.27, p = .008) was associated with more ADHD traits at 3-years. During Vigilance at 14 months, there was a significant Attention-by-Movement interaction effect (z = 25.65, p < .001), showing that the association between more Vigilance and fewer ADHD traits was most pronounced in infants showing less Movement.</p><p><strong>Conclusions: </strong>Reduced attention was observed from 10 months onwards in those with NF1, but not in those with a familial likelihood of ADHD. Moreover, early focused attention and the ability to modulate activity level by attentive state (i.e. more vigilant, less movement) may be important emerging features associated with later ADHD traits. We consider implications for early detection and early support strategies.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13330184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147864083","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":"Neural oscillatory dynamics reveal altered top-down and integrative mechanisms during face processing in autistic children and unaffected siblings of autistic children.","authors":"Theo Vanneau, Chloe Brittenham, Megan Darrell, John J Foxe, Sophie Molholm","doi":"10.1186/s11689-026-09706-z","DOIUrl":"10.1186/s11689-026-09706-z","url":null,"abstract":"<p><p>Face processing is fundamental to social communication and has been a major focus of autism research. While event-related potential (ERPs) studies of face processing have produced mixed results, little work has examined neuro-oscillatory dynamics, which may better capture the integrity of underlying networks. To address this gap, EEG was recorded from children aged 8-13 across three groups: autistic (n = 50), non-autistic (n = 38) and siblings of autistic children (n = 26), during a visual oddball task. In a blocked design, participants viewed faces and objects, presented upright and inverted (non-targets), to assess the face inversion effect (the FIE; a larger or delayed N170 to inverted than upright faces), and responded to infrequent shadow versions (targets). Analyses using permutation statistics and linear mixed models focused on non-target stimuli, quantifying face-related ERPs (P1, N170) and oscillatory activity associated with sensory and attentional processing (theta, alpha, gamma). Across groups, faces elicited earlier P1 and larger N170 amplitudes than objects, and showed a FIE. Furthermore, the rightward lateralization of the FIE was reduced for autistic participants. Analyses in the frequency domain revealed greater induced theta for inverted versus upright stimuli and for faces versus objects, revealing face specific effects, and stronger theta for inverted faces for the autistic and sibling groups, suggesting greater cognitive effort in processing these social stimuli. Gamma-band inter-trial phase coherence exhibited face selectivity only in the non-autistic group, pointing to differences in early network synchronization in autistic children relative to their non-autistic peers, whereas alpha event-related desynchronization did not vary by group or category. Altogether, these findings support altered neural synchronization/efficiency for autistic participants and siblings of autistic children, that is specific to face stimuli and seen despite largely typical sensory driven encoding. These data suggest that neural oscillatory assays are more sensitive to face processing differences in autism than broadband ERPs and that these oscillatory assays may be endophenotypic.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13326095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856381","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":"Emotion regulation and self-inhibition's association with mental health outcomes, caregiver strain, and well-being in parents of autistic children: a dyadic analysis.","authors":"Leonardo Dominguez Ortega, Alexandra Sturm, Meghan M Krushena, Amanda C Gulsrud","doi":"10.1186/s11689-026-09704-1","DOIUrl":"10.1186/s11689-026-09704-1","url":null,"abstract":"<p><strong>Background: </strong>Parents of autistic children report more depression, anxiety, and caregiver strain, and poorer well-being than parents of non-autistic children. Though more research has begun to investigate how parent-specific factors may influence these outcomes, few consider cognitive factors like emotion regulation or self-inhibition. These skills may be particularly relevant given their documented benefits and associations with mental health and well-being in the general population. An important consideration when investigating the needs of parents is the interconnectedness of the family unit. Thus, methodologies that consider this shared context are essential to appropriately support resilience of parents of autistic children.</p><p><strong>Methods: </strong>Our sample consisted of 263 different-sex parent dyads with at least one child formally diagnosed with autism spectrum disorder. Using the Actor-Partner Interdependence Model, we assessed the links between parents' emotion regulation and self-inhibition and their own and their partner's depression and anxiety symptoms, caregiver strain, and well-being. Interdependence was established using correlations given the distinguishable nature of our dyads.</p><p><strong>Results: </strong>Both mothers' and fathers' emotion regulation were associated with their own depression and anxiety symptoms, caregiver strain, and well-being. Stronger emotion regulation was associated with fewer mental health symptoms, less caregiver strain, and better well-being. There was only one significant association for self-inhibition: stronger self-inhibition scores in fathers were linked to better well-being. We did not observe any associations between parents' emotion regulation or self-inhibition and partner outcomes after false discovery rate correction.</p><p><strong>Conclusions: </strong>Emotion regulation, and not self-inhibition, emerged as an important source of resilience for mental health and well-being of parents of autistic children. Previous work has looked to reduce caregiver strain in this population through interventions that directly and indirectly target emotion regulation. Our findings highlight the need for further research on interventions that both directly target parents' emotion regulation skills and modify environmental contexts (e.g., social support, respite care) to enhance regulatory capacity and support parental resilience. As our work was cross-sectional, future work should investigate the causal relationship between emotion regulation, mental health, and well-being in parents of autistic children.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13326364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856248","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":"Gaboxadol increases resting theta and alpha power without affecting evoked responses in fragile X syndrome in a home-based setting.","authors":"Lisa A De Stefano, Hyeonseok Kim, Craig A Erickson, Lauren M Schmitt, Kelli C Dominick, Ernest V Pedapati, Richard Huckle, Robert Wilson, Walker S McKinney, Debra L Reisinger, Meredith N Nelson, Ashley E Dapore, Paul S Horn, Makoto Miyakoshi","doi":"10.1186/s11689-026-09700-5","DOIUrl":"10.1186/s11689-026-09700-5","url":null,"abstract":"<p><strong>Background: </strong>Fragile X syndrome (FXS) lacks FDA-approved treatments despite various small molecules contributing to phenotypic rescue in the FMR1 knockout (KO) mouse model. Translation from the mouse model has been hampered by phenotypic heterogeneity that contributes to participation barriers among participants who are most affected and may be unable to regularly visit the research laboratory. The current study utilized a crossover design to test the acute neural and behavioral effects of a single 10 mg dose of gaboxadol and the reliability of electroencephalography (EEG) and behavioral data collected in participant homes compared to the clinic.</p><p><strong>Methods: </strong>Ten adult males with full mutation FXS completed four blinded dosing visits (two placebo, two gaboxadol), with two occurring in-home and two in-lab. Pre- and post-dose assessments included resting high-density EEG, an auditory chirp paradigm, RBANS List Learning, and NIH Toolbox Cognition Battery subtests.</p><p><strong>Results: </strong>No serious adverse events were reported. Compared with placebo, gaboxadol increased theta and alpha band power, with no interaction between collection environment (home vs. lab). Additionally, gaboxadol increased the proportion of electrodes with detectable low-frequency peaks and slowed the peak frequency. There were no effects on auditory-evoked measures or NIH Toolbox, with only a marginal effect on RBANS List Learning. An analysis of pre-dose EEG found reliability estimates across testing locations for all tested resting power and behavioral measures that were similar to in-lab reliability estimates found in the literature.</p><p><strong>Conclusions: </strong>Single-dose gaboxadol augmented theta and alpha power in FXS during resting EEG, similar to previous findings in the typically developing population and in the FMR1 KO, without normalizing gamma abnormalities, altering auditory-evoked responses, or contributing to behavioral change. These results did not significantly differ between the home and lab settings, supporting the feasibility of in-home data collection for clinical trials in FXS, including those that use complex measures such as EEG as endpoints.</p><p><strong>Trial registration: </strong>clinicaltrials.gov, NCT06334419, Registration Date: March 8, 2024.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856245","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":"Prevalence and age of diagnosis of neurodevelopmental conditions among Asian populations in Aotearoa New Zealand.","authors":"Noriko K Panther, Nicholas Bowden, Joanna Chu, Stephanie D'Souza, Sujata Saha, Hiran Thabrew, Laurie K McLay","doi":"10.1186/s11689-026-09695-z","DOIUrl":"10.1186/s11689-026-09695-z","url":null,"abstract":"<p><p>PURPOSE: Asian populations are among the fastest-growing ethnic groups in Aotearoa New Zealand (NZ), yet little is known about the prevalence of neurodevelopmental conditions (NDCs) within these communities. The study compared the prevalence and age of diagnosis of NDCs (Attention Deficit Hyperactivity Disorder [ADHD], autism, communication and language disabilities [CLDs], intellectual disability [ID], motor disabilities [MDs], and specific learning disabilities [SLDs]) between NZ-born Asian and non-Asian populations, and differences across Asian subgroups. METHODS: A national cross-sectional analysis was conducted using linked administrative microdata from the Integrated Data Infrastructure, covering the 2021/22 estimated resident population aged 0–24 years (N = 1,334,247). Following adjustment for socioeconomic factors, standardized NDC rates were calculated for Asian and non-Asian populations and Asian subgroups (Indian, Chinese, Southeast Asian, and Other Asian). RESULTS: Lower standardized rates of NDCs were identified among Asian (2.85%, 95% CI [2.77, 2.94]) compared to non-Asian (4.52%, 95% CI [4.49, 4.56]) participants. Most notably, rates of ADHD (1.1%, 95% CI [1.05, 1.16] vs. 2.94%, 95% CI [2.91, 2.97]) and ID (0.34%, 95% CI [0.31, 0.38] vs. 0.58%, 95% CI [0.57, 0.60]) were significantly lower among Asian participants. Among Asian sub-groups, rates of NDCs were lowest for Chinese children, with particularly low rates of Autism, MDs and SLDs. CONCLUSION: Findings highlight substantial differences in NDC rates between NZ-born Asian and non-Asian ethnicities, suggesting that socioeconomic context, cultural perceptions, and diagnostic pathways may influence identification patterns across and between Asian subgroups. Culturally responsive approaches are critical for equitable NDC identification and support. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13238127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147774158","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}