Brain & Development最新文献

{"title":"Does in utero exposure to antiseizure medications affect the trajectory of cognitive development from 2 to 6 years of age?","authors":"Susanna Stjerna ,&nbsp;Lina-Maria Hämäläinen ,&nbsp;Mari Videman","doi":"10.1016/j.braindev.2025.104487","DOIUrl":"10.1016/j.braindev.2025.104487","url":null,"abstract":"<div><h3>Background</h3><div>Antiseizure medications (ASM) are essential for patients with epilepsy. Though prenatal exposure to ASMs is associated with increased risk for malformations and neurocognitive problems, whether prenatal ASM exposure modifies offsprings' natural developmental trajectory has not yet been studied.</div></div><div><h3>Methods</h3><div>This prospective study explores the effect of prenatal ASM exposure on the trajectory of cognitive development of children by studying the association of Bayley Scales III scores at 2 years with WISC-IV scores at 6 years of age and by comparing the results against those of unexposed children. Neurocognitive performance of 30 children with prenatal ASM exposure and 37 unexposed control children were evaluated. Correlations and separate ANCOVAs across these ages were compared between ASM exposed and unexposed controls. Results were controlled for maternal education, type of maternal epilepsy, child sex and child age at the assessment.</div></div><div><h3>Results</h3><div>In unexposed participants, cognitive scores at the age of two years associated positively with working memory and processing speed at six years of age and receptive language scores at the age of two years associated with working memory at six years old. Conversely, with exposed children, there were no significant associations between two- and six-year test scores, and coefficients between receptive language and six-year-old working memory or processing speed differed significantly from unexposed children's coefficients. However, small sample size restricts the stability of the results, and the observed group differences in coefficients were not significant after removal of outlier.</div></div><div><h3>Conclusion</h3><div>ASM exposure in utero may affect the trajectory of neurocognitive development, but the findings were impacted by an outlier and should be confirmed in larger cohort.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104487"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145696507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to the letter to the editor “Gene therapy advancements in Duchenne muscular dystrophy: Overlooked challenges”","authors":"Yuko Shimizu-Motohashi","doi":"10.1016/j.braindev.2025.104489","DOIUrl":"10.1016/j.braindev.2025.104489","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104489"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145659098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurocognitive profiles of attentional networks in children with Tic disorders","authors":"Xinyu Yang ,&nbsp;Xiaofei Ye ,&nbsp;Dandan Zheng ,&nbsp;Bin Yang","doi":"10.1016/j.braindev.2026.104502","DOIUrl":"10.1016/j.braindev.2026.104502","url":null,"abstract":"<div><h3>Objective</h3><div>Tic disorders (TD) are childhood-onset neurodevelopmental conditions marked by sudden, rapid, recurrent motor and/or vocal tics. This study aimed to investigate attentional network functioning in children with TD using the Attention Network Test (ANT), which assesses alerting, orienting, and executive control.</div></div><div><h3>Methods</h3><div>Seventy-eight children with TD and 78 age-matched healthy controls were recruited. TD participants were classified into three subtypes: persistent motor/vocal tic disorder, provisional tic disorder, and Tourette syndrome (TS). All participants completed the ANT, and outcomes were analyzed for alerting, orienting, conflict effects, reaction time, and accuracy. Subgroup comparisons were also conducted based on TD subtype and Yale Global Tic Severity Scale (YGTSS) scores (≥30 vs &lt;30).</div></div><div><h3>Results</h3><div>Compared to controls, children with TD showed significantly reduced orienting effects, longer reaction times, and lower accuracy (all <em>P</em> &lt; 0.05). No group differences were observed in alerting or conflict effects. Subtype analyses revealed significant differences in reaction time and accuracy but not in attentional network effects. No significant ANT performance differences were found between severity subgroups.</div></div><div><h3>Conclusion</h3><div>Children with TD exhibit specific impairments in attentional networks, particularly in orienting function, along with slower responses and reduced accuracy. These findings highlight cognitive features of TD and support the use of ANT in neuropsychological assessment.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104502"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to “Comment on ‘Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment’”","authors":"Tamaki Kato,&nbsp;Noriko Otsuki,&nbsp;Mamoru Yokomura,&nbsp;Kayoko Saito","doi":"10.1016/j.braindev.2025.104493","DOIUrl":"10.1016/j.braindev.2025.104493","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104493"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145822195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New Year's Greetings","authors":"","doi":"10.1016/j.braindev.2025.104495","DOIUrl":"10.1016/j.braindev.2025.104495","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104495"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145893480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paediatric neurological care in Sub-Saharan Africa: Current status and future directions","authors":"Mabel Frimpong ,&nbsp;Siham Mohamed ,&nbsp;Miracle Olayeri Ibukun ,&nbsp;Yaa Asieduwaa Owusu ,&nbsp;Andrew Awuah Wireko","doi":"10.1016/j.braindev.2025.104490","DOIUrl":"10.1016/j.braindev.2025.104490","url":null,"abstract":"<div><div>Paediatric neurology has evolved significantly since its early recognition as a subspecialty in the mid-20th century, though interest in childhood neurological conditions dates back centuries. In Sub-Saharan Africa (SSA), however, the field remains underdeveloped, despite a rising burden of neurological disorders such as epilepsy, cerebral palsy, cerebral malaria, autism spectrum disorder, and paediatric brain tumours. These conditions represent a significant proportion of paediatric morbidity and mortality in the region, yet limited epidemiological data, underdiagnosis, and health system constraints continue to obscure their true impact. Aetiological factors in SSA are diverse and include infectious diseases, perinatal complications, genetic disorders and environmental exposures. While countries such as South Africa, have made strides in diagnosis and care, progress remains uneven across the region. Structured training programmes like the African Paediatric Fellowship Programme and public engagement initiatives have contributed to capacity building, but most countries in the region still lack adequate specialist care, essential diagnostic tools such as electroencephalography and magnetic resonance imaging, and sustained investment in paediatric neurology infrastructure and epidemiological research. To address these gaps, this narrative review recommends expanding local training programmes, integrating task-shifting approaches to empower general practitioners and community health workers, and investing in clinical and epidemiological research. Equally critical is the need to strengthen health systems, improve access to diagnostic services, and promote inclusive, stigma reducing advocacy. Only through coordinated efforts can paediatric neurological care in SSA be advanced to meaningfully improve child health outcomes across the region. Thus, this narrative review explores the evident burdens of paediatric neurology care in SSA and proposes potential strategies to address these challenges.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104490"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights","authors":"Aslihan Sanri ,&nbsp;Unal Akca ,&nbsp;Mehmet Burak Mutlu ,&nbsp;Ozlem Sezer ,&nbsp;Emre Sanri ,&nbsp;Taner Karakaya ,&nbsp;Serkan Kurtgoz","doi":"10.1016/j.braindev.2025.104498","DOIUrl":"10.1016/j.braindev.2025.104498","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy is a genetically heterogeneous disorder with a high burden in the pediatric population. Advances in next-generation sequencing (NGS) have enhanced molecular diagnosis, enabling more accurate subclassification and targeted interventions.</div></div><div><h3>Objective</h3><div>This study aimed to evaluate the diagnostic utility of epilepsy gene panel testing in a large pediatric cohort and to characterize the clinical and genetic features of molecularly diagnosed cases.</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted on 516 pediatric epilepsy patients who underwent targeted gene panel testing between 2021 and 2025 at a tertiary medical center. Only pathogenic and likely pathogenic variants were considered diagnostic.</div></div><div><h3>Results</h3><div>A molecular diagnosis was established in 81 patients (15.7 %). The most frequently implicated genes were <em>KCNQ2</em>, <em>SCN1A</em>, <em>CACNA1A</em>, <em>SLC2A1</em>, and <em>SCN2A</em>, collectively accounting for 43.2 % of all diagnoses. Despite this concentration, pathogenic variants were distributed across 37 different genes, emphasizing the high genetic heterogeneity. Most diagnosed patients had seizure onset in infancy, particularly within the first year of life. Notably, two-thirds of neonates with seizures had pathogenic <em>KCNQ2</em> variants. Additionally, 23 of the diagnostic variants (29.9 %) were novel, underscoring the evolving spectrum of epilepsy-associated mutations.</div></div><div><h3>Conclusion</h3><div>Epilepsy gene panel testing is a valuable diagnostic tool in pediatric clinical practice. The identification of pathogenic variants across a wide range of genes — including a high proportion of novel mutations — supports the integration of genetic testing into the routine evaluation of pediatric epilepsy for improved etiological clarification and long-term management.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104498"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145925918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum to “Does in utero exposure to antiseizure medications affect the trajectory of cognitive development from 2 to 6 years of age?” [Brain Dev. 48(1) (2026) 104487]","authors":"Susanna Stjerna ,&nbsp;Lina-Maria Hämäläinen ,&nbsp;Mari Videman","doi":"10.1016/j.braindev.2025.104496","DOIUrl":"10.1016/j.braindev.2025.104496","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104496"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145835226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Structural brain alterations in persistent developmental stuttering: a whole-brain voxel-based morphometry (VBM) analysis of grey and white matter","authors":"Seyedehsamaneh Shojaeilangari ,&nbsp;Mohammad Ehsan Taghizadeh ,&nbsp;Narges Radman","doi":"10.1016/j.braindev.2025.104464","DOIUrl":"10.1016/j.braindev.2025.104464","url":null,"abstract":"<div><h3>Objective</h3><div>Persistent developmental stuttering (PDS), also known as childhood-onset speech fluency disorder, is characterized by involuntary disruptions in normal speech fluency, such as sound repetitions, prolongations, and silent pauses. Although structural neuroimaging techniques, particularly voxel-based morphometry (VBM), have been widely used to explore brain abnormalities in PDS, the precise brain regions predominantly affected remain unclear. This study aimed to investigate grey matter (GM) and white matter (WM) volumetric differences in adults with PDS compared to fluent speakers.</div></div><div><h3>Methods</h3><div>Magnetic resonance imaging (MRI) scans were obtained from 15 adults with PDS and 15 fluent control participants matched for age, sex, education, and hand preference. Whole-brain VBM analysis was conducted to assess GM and WM volume differences between the two groups.</div></div><div><h3>Results</h3><div>Compared to fluent speakers, adults with PDS demonstrated reduced WM volume in the cerebellum. GM alterations included increased volumes in the right postcentral gyrus and the left middle temporal gyrus (MTG), while decreased volumes were observed in the left superior frontal gyrus (SFG), bilateral paracentral lobule, right cuneus, and right cerebellum.</div></div><div><h3>Conclusion</h3><div>These findings provide evidence of both grey and white matter abnormalities in adults with PDS, highlighting the involvement of specific cortical and subcortical regions. The results support the significance of structural brain differences in understanding the neurobiological basis of persistent stuttering.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104464"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of ADHD subtypes in Japanese children and the association with obesity based on BMI-SD score","authors":"Yukihiko Kawasaki ,&nbsp;Yuichi Suzuki ,&nbsp;Kyohei Miyazaki ,&nbsp;Naoko Suzuki ,&nbsp;Megumi Hoshina ,&nbsp;Asako Kato ,&nbsp;Hiroyuki Morita ,&nbsp;Yoko Ise ,&nbsp;Hayato Go","doi":"10.1016/j.braindev.2025.104475","DOIUrl":"10.1016/j.braindev.2025.104475","url":null,"abstract":"<div><h3>Aim</h3><div>In order to clarify the characteristics of attention deficit hyperactivity disorder (ADHD) subtypes in Japanese children and the association with obesity based on body mass index (BMI)-standard deviation (SD) score, we conducted a clinical survey of pediatric patients with ADHD.</div></div><div><h3>Methods</h3><div>We collected data for 115 patients diagnosed with ADHD. The patients were retrospectively divided into three groups according to subtype. Group 1 consisted of patients with predominantly inattentive ADHD (ADHD-I: <em>n</em> = 41, 35.7 %), Group 2 consisted of patients with predominantly hyperactive-impulsive ADHD (ADHD-HI: <em>n</em> = 6, 5.2 %), and Group 3 consisted of patients with a combined subtype (ADHD-C: <em>n</em> = 68, 59.1 %). The clinical features were analyzed for each group.</div></div><div><h3>Results</h3><div>The most common ADHD subtype was ADHD-C, followed by ADHD-I and ADHD-HI. At the time of diagnosis and at the most recently follow-up, the ADHD-Rating Scale (RS) scores for total in Group 3 were higher than those in Group 1 or Group 2, and trouble score (TS) at the time of diagnosis and the frequency of patients requiring ADHD drugs medicine were higher in Group 3. Further, the BMI-SD scores in children with ADHD were high at 0.38 ± 1.1. The frequency of patients with a BMI-SD score above 2.0 was 7.3 % (<em>n</em> = 3) in Group 1, 16.7 % (<em>n</em> = 1) in Group 2, and 8.8 % (<em>n</em> = 6) in Group 3, and 8.7 % in all patients.</div></div><div><h3>Conclusion</h3><div>These results suggest that more careful follow-up is necessary for patients with ADHD-C than for those ADHD-I and ADHD-HI, and it is important to monitor the progress of ADHD children with obesity with the aim of improving their condition.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104475"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}