Journal of Neurodevelopmental Disorders最新文献

{"title":"Altered folate metabolism disrupts auditory function from neonatal vocalizations to adult perceptual precision.","authors":"Danielle Barda, Lior Dor, Hila Sapir, Shaked Weinberger, Yuval Avni Mann, Aviv Or-Zeid, Netta Baram, Dror Lederman, Hava Golan, Jennifer Resnik","doi":"10.1186/s11689-026-09692-2","DOIUrl":"10.1186/s11689-026-09692-2","url":null,"abstract":"<p><p>Methylenetetrahydrofolate‐reductase (MTHFR) is a critical enzyme in folate-dependent one-carbon metabolism. While MTHFR polymorphisms have been linked to sensorineural hearing loss and neurodevelopmental disorders in humans, the translation of early-life metabolic stress into long-term sensory processing and perceptual consequences has remained unclear. Here, we combined neonatal ultrasonic vocalization analysis, adult auditory-brainstem recordings, two-photon calcium imaging of the auditory cortex, and high-resolution psychophysics to map the effects of partial Mthfr deficiency across different developmental stages. MTHFR-deficient pups produced calls with lower onset frequencies and altered temporal structure. In adulthood, MTHFR-deficient mice exhibited elevated auditory brainstem response thresholds and reduced wave I amplitudes, indicating reduced cochlear output. Despite robust cortical tone responses, two-photon imaging revealed significantly broadened frequency–response areas, and a trained cortical activity decoder showed selectively reduced separability for closely spaced tones. Guided by these neural findings, behavioral testing revealed intact discrimination for widely separated tones but impaired performance near the perceptual boundary, indicating reduced fine spectral acuity. Together, these findings outline a developmental trajectory in which early metabolic stress impairs peripheral encoding, central gain compensates for the loss of sensitivity, and perceptual precision is ultimately compromised, highlighting one-carbon dysregulation as a modifiable contributor to auditory dysfunction.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13191893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147654336","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 neurodevelopmental brain perfusion abnormalities and functional connectivity findings in infants with Prader-Willi syndrome.","authors":"Jennifer Boisgontier, Sarah Charpy, Graziella Pinto, Volodia Dangouloff-Ros, Ludovic Fillon, Ana Saitovitch, Sara Cabet, Khawla Aljabali, Aurélie Fabre, Gwenaëlle Diene, Marion Valette, David Cohen, Monica Zilbovicius, Maïthé Tauber, Nathalie Boddaert","doi":"10.1186/s11689-026-09690-4","DOIUrl":"10.1186/s11689-026-09690-4","url":null,"abstract":"<p><p>BACKGROUND: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by distinct eating behaviors that evolve from early feeding difficulties to later hyperphagia. Early brain abnormalities remain poorly understood, with no data on brain perfusion during infancy. This study investigated early brain perfusion and functional connectivity in infants with PWS and their associations with feeding and social functioning. METHOD: Twenty-seven infants (mean age 3 months) were included in this prospective study. Thirteen genetically confirmed PWS infants (mean age 2.7 ± 1.2 months) underwent 3T multimodal MRI combined with structural imaging, arterial spin labeling (ASL) to quantify cerebral blood flow (CBF) at rest, and resting-state functional MRI to assess functional connectivity. Oral-motor and social functioning were evaluated via the Neonatal Oral-Motor Assessment Scale (NOMAS) and Coding Interactive Behavior (CIB) scale. Group differences in CBF between PWS infants and 14 age-matched controls (mean age 3.5 ± 1.1 months) were investigated via whole-brain voxelwise analysis and linear regression, controlling for age and sex (p ≤ 0.05, FWE-corrected). Within the PWS group, associations between imaging and clinical data were analyzed via age-adjusted linear regressions, corrected for multiple comparisons using the false discovery rate procedure. RESULTS: Compared with controls, infants with PWS presented significantly increased CBF in the insula-superior temporal region, striatum-pallidum, and anterior cingulate cortex (p(FWE) ≤ 0.05). Within the PWS group, the anterior cingulate CBF was significantly associated with oral-motor performance (p(FDR) = 0.04) and birth weight (p(FDR) = 0.03). The functional connectivity between the insula-temporal region and the striatum pallidum was significantly associated with unacylated ghrelin levels (p(FDR) = 0.04), whereas the interhemispheric striatum-pallidum functional connectivity was significantly associated with social functioning (p(FDR) = 0.01). CONCLUSIONS: This multimodal MRI study identified early brain hyperperfusion in infants with PWS, preceding the onset of hallmark symptoms. Perfusion in the anterior cingulate cortex is related to early feeding and growth, and functional connectivity within the insular and striatal regions is linked to social and metabolic measures, suggesting that these associations develop early in life. These findings provide a basis for future longitudinal studies to clarify how early patterns of brain function are related to developmental outcomes. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13188529/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147623161","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":"Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons.","authors":"Shaima M Hourani, Kagistia Hana Utami, Sher Li Oh, Maija L Castrén, Mahmoud A Pouladi","doi":"10.1186/s11689-026-09686-0","DOIUrl":"10.1186/s11689-026-09686-0","url":null,"abstract":"<p><strong>Background: </strong>Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by loss of fragile X messenger ribonucleoprotein (FMRP). In most cases, this results from a CGG expansion exceeding 200 repeats in the 5' untranslated region of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, known as the \"full mutation\". While the trinucleotide expansion has long been thought to induce epigenetic silencing of this locus, studies have shown that many males with a full mutation still express FMR1 mRNA. However, these individuals produce little to no FMRP protein, due to mechanisms that remain unclear. Mis-splicing of FMR1 transcripts with an expanded CGG tract has recently been proposed as a potential mechanism underlying the absence of FMRP in FXS tissues despite the presence of gene transcripts.</p><p><strong>Methods: </strong>We used human neural progenitors and neurons differentiated from FXS human pluripotent stem cells and RNA-seq to examine splicing patterns of expanded FMR1 transcripts. We analyzed transcript structure and protein expression to validate mis-splicing mechanisms.</p><p><strong>Results: </strong>We demonstrate an enrichment in levels of mis-spliced transcripts in human neural progenitors and neurons differentiated from FXS human pluripotent stem cells. Our findings confirm that expanded transcripts undergo aberrant splicing, which may contribute to the absence of FMRP despite transcriptional activity. We further show that pharmacological reactivation of the FMR1 locus results in expression of mis-spliced transcripts and that FMRP loss alone, in the absence of an expanded CGG tract, causes only a modest increase in splicing defect.</p><p><strong>Conclusions: </strong>These results suggest that mis-splicing may represent one of several mechanisms contributing to the absence of FMRP in FXS, specifically in cases where transcriptional silencing of the FMR1 locus is incomplete and expanded transcripts are still produced. In these cases, expanded FMR1 transcripts are produced but undergo aberrant processing that prevents functional protein production. These findings have important implications for understanding FXS pathogenesis and developing therapeutic strategies targeting the expanded locus.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13169608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147592777","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":"Transient visual evoked potential abnormalities in ADNP syndrome.","authors":"Tess Levy, Hailey Silver, Nurit Benrey, Abigail Siegel, Christina Layton, Vance Zemon, James Gordon, Joseph D Buxbaum, Alexander Kolevzon, Paige M Siper","doi":"10.1186/s11689-026-09688-y","DOIUrl":"10.1186/s11689-026-09688-y","url":null,"abstract":"<p><p>BACKGROUND: ADNP syndrome is a rare genetic disorder associated with global developmental delay/intellectual disability, autism, aberrant behavior, and medical comorbidities. Sensory symptoms represent a core clinical feature, even in those without autism spectrum disorder (ASD). Differences in visual evoked potentials (VEPs), an objective measure of excitatory and inhibitory postsynaptic activity, have been reported in other genetic neurodevelopmental disorders and have yet to be examined in ADNP syndrome. METHODS: Transient VEPs (tVEP) were collected from 12 children with ADNP syndrome, 46 autistic children without a known genetic cause, and 19 typically developing children. Time- and frequency-domain variables were compared between groups. RESULTS: Significant differences were found between the ADNP and TD groups in amplitude (P60-N75, N75-P100), latency (P60, N75), and magnitude-squared coherence (MSC). Significant differences were also found between the ADNP and ASD group in latency (P60, N75) and MSC (Band 2, 14–28 Hz). CONCLUSIONS: VEP abnormalities in children with ADNP syndrome compared to an ASD group and controls were identified. Weaker amplitudes in the ADNP group are consistent with prior research in other genetic neurodevelopmental syndromes. Longer latencies and diminished 14–28 Hz band activity, however, are distinct findings and represent an important area of continued study to explore the presence of syndrome-specific VEP profiles. Establishing VEP biomarkers for ADNP syndrome is a critical direction for future clinical trials in the syndrome. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13169746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147592759","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":"Cognitive deficits linked to intrinsic timescales and gray matter volume abnormalities in children with Duchenne muscular dystrophy.","authors":"Xiaoyu Niu, Qin Hu, Xinyuan Zhang, Suming Zhang, Ke Xu, Rong Xu, Yu Song, Hang Fu, Ziqi Zhou, Ying Ren, Caihan Li, Ting Xu, Shaoqiang Han, Yong Zhang, Huayan Xu, Xiaotang Cai, Bochao Cheng, Yingkun Guo","doi":"10.1186/s11689-026-09689-x","DOIUrl":"10.1186/s11689-026-09689-x","url":null,"abstract":"<p><p>BACKGROUND: Duchenne muscular dystrophy (DMD) is associated with cognitive deficits and neural abnormalities, yet how temporal properties of regional brain activity align with structural changes across development remains unclear. We integrated intrinsic neural timescale (INT) with voxel-based morphometry (VBM) to explore whether intrinsic timescales disruptions co-localize with gray matter volume (GMV) alterations and relate to cognition in children with DMD. METHODS: Thirty-six children with DMD and 30 age-matched healthy controls underwent T1-weighted MRI and resting-state fMRI. INT and VBM analyses were conducted to assess intrinsic timescales and GMV, respectively. Group differences were tested in statistical parametric mapping toolkit using two-sample t-tests with Gaussian random-field correction (voxel-wise P < 0.001; cluster-wise P < 0.05). Global volumetrics were analyzed with ordinary least squares models including group × age interactions. Spearman rank correlations were subsequently computed to assess associations between cognitive scores and the identified neural abnormalities. RESULTS: DMD showed cognitive impairment and distinct neurodevelopmental features, including: co-localized shorter INT and lower GMV within limbic–sensorimotor networks; widespread GMV reductions across the visual, default-mode, and dorsal attention networks; and divergent age-related trends in global volumes. Moreover, GMV in multiple abnormal regions correlated positively with working memory and perceptual reasoning scores. CONCLUSIONS: These findings suggest that dystrophin deficiency induces co-located functional-structural deficits and aberrant neurodevelopmental trends, offering insights into neurodevelopmental abnormalities in children with DMD. The integration of INT and GMV provides a novel framework for decoding hierarchical network dysfunction and morphological plasticity changes in DMD, identifying potential targets for cognitive intervention. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13151181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147574552","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":"Electroretinography biomarkers indicate disrupted visual processing in Fragile X syndrome.","authors":"Qianyi Pu, Naomi Bennett, Tejas C Sekhar, Mary T Stanley, Elizabeth Berry-Kravis","doi":"10.1186/s11689-026-09684-2","DOIUrl":"10.1186/s11689-026-09684-2","url":null,"abstract":"<p><p>BACKGROUND: Objective physiological biomarkers that index underlying neural circuit dysfunction, such as electroretinography (ERG), are needed in Fragile X syndrome (FXS) research. Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by silencing of the FMR1 gene and loss of fragile X messenger ribonucleoprotein (FMRP), leading to synaptic dysfunction and prominent sensory processing abnormalities. This study evaluated whether ERG waveform differences are detectable in FXS using a handheld RETeval® protocol while accounting for key technical and physiological determinants of signal variability. METHODS: ERG recordings were obtained during routine clinic visits using the RETeval® system in 24 males with genetically confirmed FXS [aged (mean ± SD) 28 ± 10 years; 19 full mutation, 5 mosaic] and 19 neurotypical male controls [aged (mean ± SD) 26 ± 2 years]. Outcomes included flash and flicker ERG parameters (a- and b-wave amplitudes and time-to-peak; flicker amplitude and time-to-peak). Feasibility was assessed using ERG waveform acquisition and success rates. RESULTS: Individuals with FXS demonstrated reduced flash b-wave amplitude (β = −6.84 µV; 95% CI [− 12.87 - −0.81]; p=.026) and prolonged time-to-peak for flash a-wave (β = 1.79 ms; 95% CI [0.32–3.26]; p=.017), flash b-wave (β = 1.10 ms; 95% CI [0.19–2.02]; p = .018), and flicker responses (β = 1.68 ms; 95% CI [0.49–2.88]; p=.006). Flash a-wave amplitude and flicker amplitude were not significantly different from controls. ERG feasibility was substantially reduced in FXS: participant-level flash acquisition and success were 67% and 46% in FXS versus 100% and 100% in controls, respectively (p=.0066 and p=.0001). Participant-level flicker acquisition and success were 46% and 38% in FXS versus 95% and 95% in controls (p=.0003 and p=.0001). No significant laterality effects were observed for waveform parameters or feasibility. CONCLUSIONS: Handheld, light-adapted ERG detected reproducible abnormalities in retinal function in FXS, consistently in reduced flash b-wave amplitude and delayed response timings, supporting altered post-photoreceptor processing as a physiological feature of FXS. Low acquisition and success rates in a routine outpatient clinic workflow indicate feasibility constraints, supporting use of ERG as a context-dependent biomarker for mechanistic studies and interventional trials. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13188770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521266","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":"Phase 2, open-label INSPIRE trial to assess the tolerability and effectiveness of transdermal cannabidiol gel in children and adolescents with 22q11.2 deletion syndrome (ZYN2-CL-031).","authors":"Helen Heussler, Jonathan Cohen, Caroline B Buchanan, David S Albers, Kristen G Bzdek","doi":"10.1186/s11689-026-09687-z","DOIUrl":"10.1186/s11689-026-09687-z","url":null,"abstract":"<p><p>BACKGROUND: 22q11.2 deletion syndrome (22qDS) is a genetic disorder affecting various body systems and associated with behavioral and psychiatric conditions, with no currently approved pharmacological treatments. ZYN002, a transdermal gel containing synthetic cannabidiol, has been demonstrated to be well tolerated, showing potential benefit in related neurodevelopmental disorders. The INSPIRE study evaluated the safety, tolerability, and effectiveness of ZYN002 in children and adolescents with 22qDS. METHODS: INSPIRE was a phase 2, open-label, multicenter trial comprising a 14-week treatment period (Period 1) followed by an optional 24-week, open-label extension (Period 2) for participants with ≥35% improvement on the Aberrant Behavior Checklist-Community (ABC-C) irritability subscale upon Period 1 completion. Participants aged 4 to <18 years with genetically confirmed 22qDS, Clinical Global Impression-Severity score ≥4, and Pediatric Anxiety Rating Scale-Revised (PARS-R) score ≥10, both at Screening and Visit 2 (Day 1), were enrolled. Weight-based, transdermal ZYN002 administration occurred twice daily. Primary outcomes were safety and tolerability, including the incidence of treatment-emergent adverse events (TEAEs). Secondary endpoints included the PARS-R; Anxiety, Depression, and Mood Scale (ADAMS); ABC-C; Clinical Global Impression-Improvement (CGI-I), and Qualitative Caregiver-Reported Behavioral Problems survey. RESULTS: Twenty participants initiated treatment; 17 completed Period 1, and 13 continued into Period 2. ZYN002 was well tolerated; only mild TEAEs were experienced in 35% of participants, and 15% reported treatment-related AEs. Upon Period 1 completion, significant changes from Baseline were observed across all measures: 40.6% PARS-R reduction (P=0.0005); 45.3% ADAMS total score reduction (P=0.0005) with clinically meaningful improvements in all subscales; and significant improvements in all ABC-C subscales, including irritability (36.3%, P=0.0055). On the CGI-I, 75% of participants were rated as “improved” or better relative to Baseline. For the behavioral problems survey, >80% of caregivers reported improvement in ≥1 problem during each period. Anxiety and irritability scores from Baseline through Period 2 maintained a similar reduction to Period 1. CONCLUSIONS: In this interventional, open-label trial of pediatric participants with 22qDS, ZYN002 was considered safe and well tolerated, and was associated with reductions in anxiety-related and behavioral symptoms, supporting further investigation of ZYN002 in a phase 3 randomized controlled trial. TRIAL REGISTRATION: Clinicaltrials.gov (NCT05149898) registered on October 5, 2021. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13141530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521249","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":"Brain idiosyncrasy during biological-motion perception is amplified in autistic individuals with intellectual impairment.","authors":"Michael Cheng, Colin Hawco, Daniel Yang, Hsing-Chang Ni, Chun-Hung Yeh, Jung-Chi Chang, En-Nien Tu, Mei-Yun Hsu, Yu-Yu Wu, Tai-Li Chou, Susan Shur-Fen Gau, Hsiang-Yuan Lin","doi":"10.1186/s11689-026-09683-3","DOIUrl":"10.1186/s11689-026-09683-3","url":null,"abstract":"<p><p>BACKGROUND: Neuroimaging research in autism spectrum condition (ASC) often overlooks brain idiosyncrasy by focusing on group averages and frequently excludes individuals with co-occurring intellectual impairment (II). METHODS: We investigated functional MRI correlates of passive biological motion (BM) perception, comparing typically developing controls (TDC; n = 33), autistic individuals without II (intellectually able; ASC-IA; n = 28), and autistic individuals with II (ASC-II; n = 19; defined by IQ or adaptive function < 85). RESULTS: While standard group-average analyses revealed the expected BM-sensitive regions (e.g., bilateral posterior superior temporal sulci, cuneus) in the TDC and ASC-IA groups, the ASC-II group showed no consistent group-level activation pattern and exhibited greater activation in the right intraparietal sulcus compared to the ASC-IA group. Using a correlational distance-based metric, we quantified brain idiosyncrasy (“whole-sample brain variability”, VariabilityWhole), representing the deviance of an individual's activation pattern from others. Brain activity in the ASC-II group was significantly more idiosyncratic than the ASC-IA and TDC groups. Furthermore, VariabilityWhole showed significant transdiagnostic correlations with multiple cognitive and behavioural domains relevant to autism, including social difficulties, repetitive behaviours, non-verbal IQ, executive function, sensory hyper/hyposensitivity, ADHD symptoms, and adaptive function. CONCLUSIONS: Key limitations include the cross-sectional design and the use of a passive viewing task without a concurrent behavioral measure to directly link brain findings to task performance. These findings highlight substantial brain heterogeneity within the autism spectrum, particularly in the understudied ASC-II subgroup, and suggest that individual differences in brain processing patterns, rather than solely group-average differences, are critically linked to clinical and cognitive phenotypes. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147512887","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":"Beta power as a neural correlate of sensory features in autistic individuals.","authors":"Julie Chaudet, Julien Pichot, Amandine Pedoux, Mathis Fleury, Anna Maruani, Valérie Vantalon, Elise Humeau, Thomas Bourgeron, Josselin Houenou, Guillaume Dumas, Edouard Duchesnay, Richard Delorme, Anton Iftimovici, Aline Lefebvre","doi":"10.1186/s11689-026-09685-1","DOIUrl":"10.1186/s11689-026-09685-1","url":null,"abstract":"<p><p>BACKGROUND: Autism spectrum disorder (ASD) is characterized by social communication difficulties, restricted and repetitive behaviors, and sensory atypicalities. Its pathophysiology remains poorly understood, and no diagnostic biomarker is currently available. However, studies support the hypothesis of an imbalance in the neuronal excitation/inhibition (E/I) balance. Beta and gamma oscillatory powers are described in the literature as indirect electrophysiological features reflecting network dynamics related to this balance. This study takes a dimensional approach to investigate whether alterations in these rhythms are linked to the severity of autistic symptoms. METHODS: A total of 127 individuals with ASD, including a sensory-assessed subgroup of 57 participants, all aged 5 to 17 years, underwent resting-state high-density electroencephalography (HD-EEG) recordings with eyes closed. Absolute power was extracted from the beta and gamma frequency bands for six regions of interest. Multiple linear regression models were used to investigate the relationships between beta and gamma powers and the clinical dimensions of ASD, while controlling for the effects of age and sex. RESULTS: Beta power was positively correlated with sensory hyposensitivity across all regions (all corrected p<.02, n = 57) and with sensory hypersensitivity in the central, parietal, and left temporal regions (all corrected p<.05, n = 57). In addition, an exploratory result suggested that an increase in gamma power may be associated with the severity of restricted and repetitive behaviors (RRBs) in the right temporal region (uncorrected p=.01, n = 127). CONCLUSIONS: These innovative results call for further analysis, including an investigation of other electrophysiological markers providing indirect profiles of E/I balance. Nevertheless, they open new avenues for a better understanding of the neurobiological processes and early diagnosis of ASD. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13147585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147480950","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":"Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.","authors":"Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Sarika U Peters, Cary Fu, Jonathan K Merritt, Alan K Percy","doi":"10.1186/s11689-026-09680-6","DOIUrl":"10.1186/s11689-026-09680-6","url":null,"abstract":"<p><p>BACKGROUND: People with Rett syndrome (RTT) have abnormal psychomotor skill development manifested by delay or failure to acquire skills, loss of skills, and potential regain of lost skills. This study aimed to provide detailed characterization of the frequency, timing, and trajectory of gain, loss, and regain of developmental skills in RTT. METHODS: The occurrence and time of gain, loss, and regain of 51 developmental skills was collected during in-person visits in the RTT Natural History Study from 1228 females with Classic RTT and a pathogenic loss-of-function variant in MECP2. The percentage of participants experiencing gain, loss, or regain events, mean and median age of event and time to event with confidence intervals, and the cumulative incidence curves were calculated and compared to normative data. One-year incidence of either gain or regain of each skill from 0 to 20 years old and one-year incidence of either gain or regain of any of 51 developmental skills was calculated. RESULTS: Across skill domains, acquisition occurred more frequently for lower-level skills than more advanced skills, with a median age of gain before 2 years old and rarely after 6 years old. Loss of previously gained skills occurred in all skill domains, with highest frequency in fine motor and expressive language domains. For most skills, loss occurred early in life and within 2 years of gain, except for loss of gross motor skills which occurred at older ages and further from age of gain. Regain of lost skills was infrequent for most skills, occurred mainly before 6 years old, and within 2 years of loss. After 6 years old, the incidence of either gaining or regaining skills was low. CONCLUSION: These results reveal that most skill gain, loss, and regain in RTT occurs early in life and stabilizes after 6 years old, except for the continued loss of gross motor skills beyond 6 years. The lack of gain or regain of skills beyond 6 years old suggest that any functional gains in these skills after a clinical intervention would represent an important indicator of efficacy as a clinical trial endpoint in RTT. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13094048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444100","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}