Journal of Neurodevelopmental Disorders最新文献

筛选
英文 中文
Longitudinal profiles of executive function in autistic and non-autistic children at high likelihood of autism. 高自闭症可能性自闭症儿童和非自闭症儿童执行功能的纵向分布。
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-03-12 DOI: 10.1186/s11689-026-09682-4
Tanya St John, Neva M Corrigan, Ariel Rokem, Annette M Estes, Heather C Hazlett, Juhi Pandey, Robert T Schultz, Natasha Marrus, Lonnie Zwaigenbaum, Chimei M Lee, Stephen R Dager, Joseph Piven
{"title":"Longitudinal profiles of executive function in autistic and non-autistic children at high likelihood of autism.","authors":"Tanya St John, Neva M Corrigan, Ariel Rokem, Annette M Estes, Heather C Hazlett, Juhi Pandey, Robert T Schultz, Natasha Marrus, Lonnie Zwaigenbaum, Chimei M Lee, Stephen R Dager, Joseph Piven","doi":"10.1186/s11689-026-09682-4","DOIUrl":"10.1186/s11689-026-09682-4","url":null,"abstract":"<p><p>BACKGROUND: Executive functioning (EF) difficulties are common in autistic children and may aggregate in families. Longitudinal studies examining EF development in autistic children and their siblings are limited. In the current study, we characterized EF development from later infancy through school-age in autistic and non-autistic high likelihood (HL; with an older autistic sibling) and low likelihood (LL; without older autistic sibling) children. METHODS: Participants were 83 autistic and 235 non-autistic HL children, and 132 LL children from the Infant Brain Imaging Study. EF was assessed at ages 12 and 24 months using the A-not-B task and ages 5–14 years (school-age) using the Behavior Rating Inventory of Executive Function (BRIEF), Flanker Inhibitory Control and Attention Test (Flanker), and Dimensional Change Card Sort (DCCS). Longitudinal profiles of EF were examined using linear mixed-effects models with three separate models for each school-age EF outcome. RESULTS: From 12–24 months, the LL group showed an increase in standardized EF scores (p < 0.05). The HL-ASD and HL-noASD groups showed no change (ps > .05). From 24 months to school-age, no change was observed for any group (ps > .05). From 12 months to school-age, standardized scores in the LL group increased (p = 0.002) and in the HL-ASD group (p < .001) decreased for the BRIEF GEC outcome. There were no group differences at 12 months in standardized EF scores (ps > .05) but at 24-months both HL groups had lower scores than the LL group (ps < .05). At school-age, the HL-ASD group had lower standardized EF scores than the LL and HL-noASD groups on all measures (ps < or = .050), and the HL-noASD group had lower standardized scores than the LL group on the BRIEF GEC (p = .014). CONCLUSIONS: Autistic and non-autistic HL children and LL children showed distinct EF profiles. On lab-based measures, autistic and non-autistic HL children showed relatively stable EF performance over time while LL children showed initial improvements. Parent report showed accumulating EF difficulties in autistic HL children. Executive function supports starting in toddlerhood may be useful for HL children showing emerging EF difficulties. </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/PMC13093929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444130","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}
引用次数: 0
Crossing the finish line towards a disease-modifying treatment for Angelman syndrome. 向着治愈天使综合症的终点线迈进。
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-03-07 DOI: 10.1186/s11689-026-09681-5
Matthew C Judson, Luis Pereira de Almeida, Rebecca D Burdine, Stormy J Chamberlain, Benjamin E Deverman, Ben Distel, Michael D Ehlers, Elizabeth Jalazo, Steven A Kushner, Mark Nespeca, Stephan J Sanders, Martin Scheffner, Jason J Yi, Mark J Zylka, Ype Elgersma, Benjamin D Philpot
{"title":"Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.","authors":"Matthew C Judson, Luis Pereira de Almeida, Rebecca D Burdine, Stormy J Chamberlain, Benjamin E Deverman, Ben Distel, Michael D Ehlers, Elizabeth Jalazo, Steven A Kushner, Mark Nespeca, Stephan J Sanders, Martin Scheffner, Jason J Yi, Mark J Zylka, Ype Elgersma, Benjamin D Philpot","doi":"10.1186/s11689-026-09681-5","DOIUrl":"10.1186/s11689-026-09681-5","url":null,"abstract":"<p><p>Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise restored? The results of ongoing clinical trials for Angelman syndrome will soon yield answers to this pressing question, yet the trials face significant obstacles. Here we identify insights needed to aid the quest for a disease-modifying Angelman syndrome therapy, which could serve as a roadmap for the expeditious development of genetic therapies for other single-gene neurodevelopmental disorders.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13001298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147372871","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}
引用次数: 0
Anxiety and obsessive-compulsive disorder (OCD) in adults with CHARGE syndrome. 成人CHARGE综合征患者的焦虑和强迫症(OCD)
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-03-02 DOI: 10.1186/s11689-026-09673-5
Shanti A Madhavan-Brown, Timothy S Hartshorne, Sarah B Schneider, Lillian J Slavin
{"title":"Anxiety and obsessive-compulsive disorder (OCD) in adults with CHARGE syndrome.","authors":"Shanti A Madhavan-Brown, Timothy S Hartshorne, Sarah B Schneider, Lillian J Slavin","doi":"10.1186/s11689-026-09673-5","DOIUrl":"10.1186/s11689-026-09673-5","url":null,"abstract":"<p><p>BACKGROUND: CHARGE syndrome is a rare genetic disorder with multiple physical, cognitive, behavioral, and sensory impairments. Anxiety is a common finding. Difficulties with pain, sleep, sensory impairment, communication, daily stress, and unpredictable environments are potential contributing factors to this anxiety. Further research is needed to gain a better understanding of the presentation of anxiety in CHARGE syndrome to promote proper diagnosis and treatment of anxiety. METHODS: An on-line survey was distributed to adults and guardians of adults with CHARGE syndrome. Fifty-two participants provided responses to the Developmental Behavior Checklist-Parent Version, the Florida Obsessive-Compulsive Inventory, and the Generalized Anxiety Disorder 7-Item Scale. Participants also provided demographic data, diagnostic characteristics of CHARGE, their perception of their anxiety, diagnosed mental health disorders, and the frequency of other potential factors of anxiety (i.e. pain and sleep concerns). Descriptive statistics, independent samples t-tests, and Pearson’s correlations provided information on the presentation of anxiety and the relationships between potential factors and anxiety subscale scores. A hierarchical multiple linear regression analysis and mediation analysis were used to investigate if sleep mediates the relationship between pain and anxiety. RESULTS: Generalized anxiety disorder and obsessive-compulsive disorder were the first (39% of sample) and fourth (27% of sample) most common mental health diagnoses reported and 50% of the sample had been diagnosed with at least one anxiety disorder. The most commonly reported anxious behaviors included getting obsessed with an idea or activity, being impatient, getting upset or distressed over small changes in the routine or environment, and being tense, anxious, or worried. Sleep was found to mediate the relationship between pain and anxiety. CONCLUSIONS: This study has implications for understanding the behavioral phenotype of CHARGE syndrome. Based on self-report and legal guardian report, anxiety is a common experience among individuals with CHARGE; generalized anxiety disorder and obsessive-compulsive disorder diagnoses/behavior are the most frequently reported. Further research into the management of pain and improvement of sleep as anxiety interventions for individuals with CHARGE may prove fruitful. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13059229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147326395","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}
引用次数: 0
Synchronisation of circadian timing in families and the impact of autism: a scoping review. 家庭中昼夜节律时间的同步和自闭症的影响:范围审查。
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-02-25 DOI: 10.1186/s11689-026-09679-z
Aoife Brennan, Cathy Wyse, Mailton Vasconcelos, Laura Rudderham, Louise Gallagher, Lorna M Lopez
{"title":"Synchronisation of circadian timing in families and the impact of autism: a scoping review.","authors":"Aoife Brennan, Cathy Wyse, Mailton Vasconcelos, Laura Rudderham, Louise Gallagher, Lorna M Lopez","doi":"10.1186/s11689-026-09679-z","DOIUrl":"10.1186/s11689-026-09679-z","url":null,"abstract":"<p><p>Autism Spectrum Disorder (autism) is a neurodevelopmental condition characterised by altered social communication, repetitive behaviours and restricted interests. Emerging evidence suggests that disrupted circadian timing mechanisms may be associated with certain traits of autism, such as sleep difficulties and behavioural dysregulation. Circadian rhythms are primarily entrained by the light–dark cycle but are also shaped by social cues, including synchronisation with the circadian rhythms of family members. Despite growing interest in circadian biology and autism, little is known about how circadian synchrony functions within families that include autistic children. This scoping review synthesises findings on circadian timing in families with autistic and non-autistic children. A systematic search of four databases (PubMed, Scopus, PsycINFO, and CINAHL) yielded 2,423 results, of which 25 met inclusion criteria. An additional 17 studies were identified through handsearching. The final dataset comprised 42 studies, which were organised into a narrative synthesis and thematic analysis. Six studies focused on sleep synchrony in families with autistic children, while the remaining 36 studies examined circadian biomarkers (n = 5), activity rhythms (n = 12), and sleep synchrony (n = 19) in families with non-autistic children. Findings revealed evidence of circadian synchrony in both groups, with family members displaying aligned sleep–wake patterns and daily activity rhythms. However, studies involving autistic families were relatively limited, and the mechanisms underlying circadian synchrony remain poorly understood. While this review highlights emerging insights into circadian synchrony in families, significant gaps in the literature remain. Research in autistic families is particularly scarce, and there is a need for longitudinal and experimental studies to better understand the interplay between genetic, environmental and social factors. Further research should explore whether disrupted circadian synchrony contributes to the neurobiology of autism or its associated traits, such as sleep difficulties and behavioural dysregulation. Addressing these gaps could inform targeted interventions to improve sleep and overall well-being in autistic children and their families.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13040797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147306998","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}
引用次数: 0
Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study. 用于Angelman综合征功能技能评估的家庭录像的发展:一项试点研究。
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-02-19 DOI: 10.1186/s11689-026-09676-2
Mindy Leffler, Rebecca J Woods, Amber Sapp, Christina K Zigler, Robert Komorowski, Rebecca Crean, Lynne M Bird, Catherine F Merton, Anna J Booman, Johnna D O'Sullivan, Kriszha A Sheehy, Jessica Duis, Wen-Hann Tan, Anjali Sadhwani
{"title":"Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.","authors":"Mindy Leffler, Rebecca J Woods, Amber Sapp, Christina K Zigler, Robert Komorowski, Rebecca Crean, Lynne M Bird, Catherine F Merton, Anna J Booman, Johnna D O'Sullivan, Kriszha A Sheehy, Jessica Duis, Wen-Hann Tan, Anjali Sadhwani","doi":"10.1186/s11689-026-09676-2","DOIUrl":"10.1186/s11689-026-09676-2","url":null,"abstract":"<p><p>BACKGROUND: Outcome measures currently used to assess function in Angelman Syndrome (AS) may be affected by participant anxiety in the clinic, use of a measure outside of age norms, and a reliance on caregiver report. This study aimed to leverage the process used to develop the Duchenne Video Assessment to develop, pilot, and evaluate tasks to be recorded in AS to lay the foundation for the Angelman Syndrome Video Assessment (ASVA), which is being developed for the assessment of everyday functional skills in individuals with AS in their home environment. METHODS: The task list was informed by published conceptual disease models identifying four domains of interest (i.e. communication, motor skills (fine and gross), self-care and executive functioning) and determined by a team of experts based on family and clinician input. The study was conducted remotely in the home environment, with families capturing videos of everyday activities and participating in an exit interview about their experience. Videos were evaluated, and caregiver interview transcripts were coded and analyzed to determine whether each task would be included in the finalized measure. RESULTS: Eleven dyads (i.e., caregiver and individual with AS) completed the study. Individuals with AS between 4 and 39 years of age were enrolled. The video completion rate was 96%, with 99% of the submitted videos meeting quality standards. Caregivers endorsed the value of assessing these individuals in their home environment. The video capture list was reduced to 13 tasks for ambulatory individuals and 12 tasks for minimally ambulatory individuals. CONCLUSIONS: The ASVA is a novel tool that captures data on the daily functioning of individuals with AS in their home environment. If it is validated in the future, this tool presents a promising new approach to evaluate participant functioning in clinical trials and for clinical care. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13019984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227117","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}
引用次数: 0
Oxytocin receptor gene expression in the basal forebrain in autism: association with receptor binding levels and single nucleotide polymorphisms. 自闭症患者基底前脑催产素受体基因表达:与受体结合水平和单核苷酸多态性的关联
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-02-19 DOI: 10.1186/s11689-026-09678-0
Ethan E Dayley, Susan Durham, Michelle C Palumbo, Jill F Lundell, Sara M Freeman
{"title":"Oxytocin receptor gene expression in the basal forebrain in autism: association with receptor binding levels and single nucleotide polymorphisms.","authors":"Ethan E Dayley, Susan Durham, Michelle C Palumbo, Jill F Lundell, Sara M Freeman","doi":"10.1186/s11689-026-09678-0","DOIUrl":"10.1186/s11689-026-09678-0","url":null,"abstract":"<p><p>BACKGROUND: The brain’s oxytocin system has been implicated in the neurobiology of autism (ASD), given the role of oxytocin in modulating social function in humans and animals more broadly. Previous work from members of our group reported dysregulation in oxytocin receptor (OXTR) binding in postmortem tissue from the basal forebrain in donors with autism compared to unaffected control donors. This study follows up on those findings by investigating the potential genetic and gene expression changes that could be driving those differences. METHODS: We used adjacent sections from the same specimens from our previous study and performed duplex fluorescence in situ hybridization to visualize and quantify OXTR mRNA in the ventral pallidum (VP) and in the cholinergic magnocellular neurons of the nucleus basalis of Meynert (NBM), visualized with choline acetyltransferase (ChAT). We genotyped the brain samples using a SNP microarray on extracted DNA. We then used regression models to test associations between OXTR binding density, OXTR mRNA levels, and relevant OXTR SNPs. Additionally, we tested for correlations between age and OXTR mRNA. RESULTS: ASD specimens showed significantly greater OXTR mRNA than unaffected donors in both the VP and the NBM. Furthermore, this is the first demonstration of OXTR expression in the cholinergic neurons of the human basal forebrain; 73% of OXTR signal in the images of the ChAT+ neurons were colocalized with the cholinergic neurons. OXTR binding levels from our previous study were positively associated with OXTR mRNA in the NBM but only in the ChAT+ neurons there. OXTR binding levels were not associated with OXTR mRNA in the VP. We genotyped all specimens for three common SNPs in the OXTR gene that have been associated with ASD in the literature, but none significantly predicted levels of OXTR binding or gene expression in the NBM or VP. OXTR mRNA levels were strongly positively correlated with donor age across regions, which was driven by ASD specimens. CONCLUSIONS: Taken together, our results contribute to a more nuanced picture triangulating variation in OXTR gene sequence, gene expression, protein levels, and human behavior. TRIAL REGISTRATION: Clinical trial number: not applicable. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13019852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146227205","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}
引用次数: 0
A symphony of functioning: exploring the interplay of cognition, movement, and visual demands in adolescents on the autism spectrum using mobile brain-body imaging (MoBI). 功能的交响乐:利用移动脑体成像(MoBI)探索自闭症谱系青少年的认知、运动和视觉需求的相互作用。
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-02-10 DOI: 10.1186/s11689-026-09677-1
Paige R Nicklas, Lisa N Cruz, Carol Terilli, Erin K Bojanek, Pierfilippo De Sanctis, Edward G Freedman, Sophie Molholm, John J Foxe
{"title":"A symphony of functioning: exploring the interplay of cognition, movement, and visual demands in adolescents on the autism spectrum using mobile brain-body imaging (MoBI).","authors":"Paige R Nicklas, Lisa N Cruz, Carol Terilli, Erin K Bojanek, Pierfilippo De Sanctis, Edward G Freedman, Sophie Molholm, John J Foxe","doi":"10.1186/s11689-026-09677-1","DOIUrl":"10.1186/s11689-026-09677-1","url":null,"abstract":"<p><p>BACKGROUND: Autism Spectrum Disorder (ASD) is characterized by differences across multiple intertwined functional domains, including cognitive, sensory, and motor processes. There is a need to understand how concurrent demands in different domains can impact performances in one another, as the simultaneous processing and execution of tasks from different domains is how most normal daily tasks and activities are completed. Differences in integration are thought to underly many characteristics of ASD, and therefore understanding how the brain processes multi-modal demands in both typically and neurodivergently developing populations is vital, and revealing how neural activity adapts to meet multi-modal demands can serve as valuable markers for supporting diagnosis and treatment decisions.” METHODS: We used Mobile Brain-Body Imaging (MoBI) to simultaneously record 64 channel electroencephalography (EEG), motion-tracking, and response inhibition task performance in adolescents (ages 13–23, mean 16.96 years) who have ASD and typically developing (TD) counterparts. We designed experimental conditions that either did or did not include a motor demand (standing or treadmill walking), sensory demand (static field or optical flow), and cognitive demand (completing task or not) to investigate single, dual, and tri-modal impacts on ERPs, gait kinematics, and task accuracy and speed. RESULTS: The TD group was significantly more accurate when walking. The ASD group did not increase task accuracy despite making similar adjustments to response speed when going from standing to walking. Optic flow did not impact task accuracy or for either group but did impact response speed. Similarly, walking impacted N200 and P300 amplitudes and latencies, but the addition of visual flow did not further these impacts. The ASD group’s neural activity showed differences that were similar in direction but weaker in magnitude to the addition of more demands (walking and flow), compared to the TD group. CONCLUSIONS: There is a complex interplay between motor, cognitive, and sensory functions and we provide evidence here that cross-domain integration of these in adolescents is different in ASD than those who are typically developing. These results suggest that coupled neural and gait responses during multi-modal demands may serve as a potential marker of altered cross-domain integration in adolescents with ASD. Future research should further investigate these relationships with multi-modal methods like MoBI. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12990423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146149787","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}
引用次数: 0
A new effective treatment for dyslexia based on dorsal visual stream neuromodulation. 背视流神经调节治疗阅读障碍的新方法。
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-01-31 DOI: 10.1186/s11689-026-09675-3
Giuseppe Di Dona, Denisa Adina Zamfira, Francesco De Benedetto, Chiara Turri, Camilla Venturini, Lisa Venniro, Daniela Perani, Luca Ronconi
{"title":"A new effective treatment for dyslexia based on dorsal visual stream neuromodulation.","authors":"Giuseppe Di Dona, Denisa Adina Zamfira, Francesco De Benedetto, Chiara Turri, Camilla Venturini, Lisa Venniro, Daniela Perani, Luca Ronconi","doi":"10.1186/s11689-026-09675-3","DOIUrl":"10.1186/s11689-026-09675-3","url":null,"abstract":"<p><p>Developmental dyslexia (DD) affects approximately 10% of individuals, impairing reading ability thus limiting professional fulfilment and psychological wellbeing. DD is associated with both phonological and visual deficits, and the latter are attributed to dysfunctions of the magnocellular-dorsal visual stream, which has a critical role in planning saccades and supporting the extraction of letters/words identity. Currently, there are no effective treatments to restore the brain networks underlying visuospatial analysis and oculomotor efficiency. Adults with DD were enrolled in a randomised clinical trial introducing a non-invasive neuromodulation protocol specifically designed to enhance dorsal stream functionality. We used bi-focal beta-band transcranial alternating current stimulation (tACS) in parietal areas, due to the recognized role of beta oscillation in the dorsal stream functionality. Coupled with a 12-session visuoattentional training, such protocol induced improvements in reading speed, oculomotor control, and visual motion perception. Additionally, beta-tACS led to long-term enhancement of working memory. These outcomes were exclusive or superior to those obtained with a placebo/sham neuromodulation, and were accompanied by plastic changes in the stimulated brain networks. Overall, our findings show the efficacy of multisession tACS in improving core visual, oculomotor and cognitive deficits associated with reading disorders.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12947359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146097262","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}
引用次数: 0
Development and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist: a three-phase mixed-methods study. Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist的开发和验证:一项三相混合方法研究。
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-01-30 DOI: 10.1186/s11689-025-09670-0
Kaat Theelen, Costantino Galasso, Wilfried Cools, Inge Gies, Stephanie Vanclooster, Anna C Jansen
{"title":"Development and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist: a three-phase mixed-methods study.","authors":"Kaat Theelen, Costantino Galasso, Wilfried Cools, Inge Gies, Stephanie Vanclooster, Anna C Jansen","doi":"10.1186/s11689-025-09670-0","DOIUrl":"10.1186/s11689-025-09670-0","url":null,"abstract":"<p><p>BACKGROUND: Klinefelter syndrome (KS) (47,XXY) is a genetic condition associated with infertility, hormonal imbalances, and a range of neurodevelopmental and psychosocial challenges, including language impairments, executive dysfunction, and difficulties in social functioning. Although these challenges can significantly affect daily life, no uniform terminology or standardized tool currently exists to systematically identify and assess them. Building upon research in tuberous sclerosis complex (TSC) and using the TSC-Associated Neuropsychiatric Disorders (TAND) Checklist as a foundation, this study explored neurodevelopmental difficulties associated with KS and led to the development, initial validation, and translation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist. METHODS: A three-phase mixed-methods design was used. In Phase 1, a literature review and semi-structured interviews with nine adults with KS and eleven parents identified relevant challenges and informed the preliminary checklist (KAND-PL). In Phase 2, feedback from twenty-four parents and thirteen healthcare professionals, collected through a feedback form and focus group, guided iterative revisions to produce the pre-final version (KAND-PF). In Phase 3, the checklist was evaluated using participant feedback and exploratory psychometric analyses with eighteen individuals with KS and twenty-nine parents. Internal consistency (Cronbach’s α) within conceptually related item groups and correlations with validated behavioral measures (Spearman’s ρ) were examined. Thematic analysis and descriptive statistics were applied to qualitative and quantitative responses. RESULTS: Building on the TAND Checklist, the KAND Checklist addresses KS-specific challenges across 13 domains and a background information section on discussing the diagnosis. Across all phases, input from individuals with KS, parents, and healthcare professionals provided strong evidence for face, content, and response process validity, demonstrating that the checklist covers relevant difficulties, uses clear language, and is feasible for self- and proxy-completion. Internal consistency was good, and preliminary convergent validity was supported through correlations with existing behavioral measures. CONCLUSION: The KAND Checklist is a reliable, accessible tool for identifying neurodevelopmental difficulties in KS. It is intended to raise awareness, facilitate structured clinical conversations, and encourage individualized care. This study highlights the value of participatory research in developing meaningful tools, promoting holistic care, and fostering collaboration between individuals with KS, their families, and professionals. Further dissemination, translation, and larger-scale validation are needed. </p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":"7"},"PeriodicalIF":3.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12879426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146093361","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}
引用次数: 0
Hemispheric transfer and dyslexia: testing the deficit hypothesis for word and symmetry recognition using visual half-field tasks. 半球转移和阅读障碍:使用视觉半视野任务测试单词和对称识别的缺陷假说。
IF 3.6 2区 医学
Journal of Neurodevelopmental Disorders Pub Date : 2026-01-29 DOI: 10.1186/s11689-026-09674-4
Zita Meijer, Emma M Karlsson, Robin Gerrits, Guy Vingerhoets, Helena Verhelst
{"title":"Hemispheric transfer and dyslexia: testing the deficit hypothesis for word and symmetry recognition using visual half-field tasks.","authors":"Zita Meijer, Emma M Karlsson, Robin Gerrits, Guy Vingerhoets, Helena Verhelst","doi":"10.1186/s11689-026-09674-4","DOIUrl":"10.1186/s11689-026-09674-4","url":null,"abstract":"<p><strong>Background: </strong>The interhemispheric transfer deficit theory proposes that individuals with dyslexia have impaired interhemispheric transfer, particularly affecting the integration of visual information from the left and right visual fields. This study aimed to evaluate this hypothesis by examining interhemispheric transfer in dyslexia using visual half-field tasks targeting both linguistic and visuospatial processing.</p><p><strong>Methods: </strong>We examined interhemispheric transfer in dyslexia using two visual half-field tasks: a lexical decision task to assess written word processing, and a symmetry decision task to examine visuospatial processing. We compared reaction times and accuracy in 90 Dutch-speaking participants (45 with dyslexia, 45 controls) across left, right, and bilateral stimulus presentations.</p><p><strong>Results: </strong>While both tasks successfully captured expected visual half-field differences in the control group, favoring the right visual field in the lexical decision task and the left visual field in the symmetry detection task, we did not observe that the dyslexia group showed increased differences between the two fields, as predicted by the interhemispheric transfer deficit theory. Furthermore, the dyslexia group benefited just as much as controls from stimuli presented simultaneously to both visual fields. Thus, no evidence of interhemispheric transfer deficits related to dyslexia was found in either task.</p><p><strong>Conclusions: </strong>These findings challenge the broad applicability of the interhemispheric transfer deficit theory in dyslexia, suggesting that such impairments may be task-dependent rather than domain-general. Future studies should further explore the conditions under which interhemispheric transfer deficits might occur in dyslexia.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12924301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146086052","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}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书