Brain & Development最新文献

{"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 , Lina-Maria Hämäläinen , 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}

{"title":"Polysomnographic and clinical features of childhood non-REM parasomnias: A sleep center experience","authors":"Aslı Çıplaklıgil ,&nbsp;Duygu Kurt Gök ,&nbsp;Hüseyin Per ,&nbsp;Sevda İsmailoğulları","doi":"10.1016/j.braindev.2025.104465","DOIUrl":"10.1016/j.braindev.2025.104465","url":null,"abstract":"<div><h3>Introduction</h3><div>Non-REM parasomnias are common in childhood, yet studies investigating their clinical and polysomnographic features remain limited. This study aimed to assess the clinical and sleep characteristics of children diagnosed with non-rapid eye movement (non-REM) parasomnias and to describe the semiological features of episodes confirmed by video-polysomnography (vPSG).</div></div><div><h3>Method</h3><div>We retrospectively evaluated 88 children (2–18 years) referred with abnormal nocturnal motor behaviors who underwent overnight vPSG between 2016 and 2023. Demographic and clinical data, comorbidities, and electroencephalography (EEG) findings were recorded. In cases with observed parasomnia episodes on vPSG, motor patterns, EEG, electrocardiography (ECG) characteristics, and Frontal Lobe Epilepsy-Parasomnia (FLEP) scale scores were analyzed. Parasomnia episodes were classified based on motor complexity: simple, rising, and complex arousal movements.</div></div><div><h3>Results</h3><div>Sixty-nine (78.4 %) patients referred for abnormal nocturnal behaviors were diagnosed with non-REM parasomnias by International Classification of Sleep Disorders-3 (ICSD-3), 20 (29 %) had confirmed episodes during vPSG (15 confusional arousal, 4 sleep terror, 1 somnambulism). Most episodes (91.1 %) occurred during N3 sleep. Simple arousal was the most common pattern (88.2 %). Episodes with complex motor features were longer and associated with autonomic signs such as tachycardia. Patients with comorbid epilepsy had a lower vPSG-confirmation rate (5.2 %) and higher FLEP scores. Electroencephalogram patterns included hypersynchronous delta and mixed-frequency theta-alpha activity.</div></div><div><h3>Conclusion</h3><div>This study characterized the semiological features of non-REM parasomnia episodes in pediatric patients. Although vPSG findings contributed to the objective description of motor patterns, the current data are not sufficient to conclude that vPSG is definitively useful for differential diagnosis. However, vPSG may aid in clarifying symptom profiles and excluding other comorbid conditions.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104465"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145314267","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":"Childhood epilepsy in Cameroon: Clinical patterns, predictive factors, and educational impact at a tertiary hospital","authors":"Dominique Enyama ,&nbsp;Daniel Gams Massi ,&nbsp;Diomede Noukeu Njinkui ,&nbsp;Zakiatou Benazir Abdourahmani ,&nbsp;Joël Aquilas Ngalandeu Kwemo ,&nbsp;Abouame Palma Haoua ,&nbsp;Daniel Armand Kago Tague ,&nbsp;Arielle Annick Sime Tchouamo ,&nbsp;Danielle Christiane Kedy Mangamba","doi":"10.1016/j.braindev.2025.104485","DOIUrl":"10.1016/j.braindev.2025.104485","url":null,"abstract":"<div><h3>Introduction</h3><div>Epilepsy is a chronic brain disorder characterized by recurrent seizures. Limited data on childhood epilepsy in Cameroon prompted this study.</div></div><div><h3>Methods</h3><div>We conducted a cross-sectional study with retrospective data collection over six months (December 2023–May 2024). Medical records of children aged 3 months to 15 years, diagnosed with epilepsy and followed at Douala General Hospital between January 2020 and December 2023, were analyzed. Statistical analysis used SPSS 26.0, with Fisher's exact and chi-square tests for associations, and logistic regression for predictive factors (<em>p</em> &lt; 0.05).</div></div><div><h3>Results</h3><div>142 patients were included (male-to-female ratio = 1.21). Epilepsy prevalence was 2.4 %. Generalized seizures predominated (65.7 %) with focal epileptic abnormalities in 50.7 % of cases. Idiopathic generalized epilepsy represented 57.7 % of cases. Sodium valproate was used in 52.8 % of cases. Main etiological factors included: neonatal convulsions (61; 43 %), febrile seizures (49; 34.5 %) and neonatal asphyxia (35; 24.6 %). Seizures persisted in 35 patients (24.6 %) under treatment. Predictive factors for poor seizure control included unknown seizure type (OR 14.25 [1.10–183.97]; <em>p</em> = 0.04), cryptogenic focal epilepsy (OR 12.55 [1.58–99.71]; <em>p</em> = 0.02), and use of prayers or traditional medicines (OR 7.45 [1.01–55.13]; <em>p</em> = 0.05). Memory disorders significantly impacted school performance (OR 4.95 [1.80–13.59]; <em>p</em> = 0.002), along with lack of concentration (OR 3.04 [1.04–8.84]; <em>p</em> = 0.04).</div></div><div><h3>Conclusion</h3><div>This study identified specific predictive factors for poor epileptic control and confirms cognitive impact on schooling, providing intervention targets to optimize neurological and educational management in Cameroon.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104485"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145520345","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":"Comment on “Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment”","authors":"Gül Yücel","doi":"10.1016/j.braindev.2025.104486","DOIUrl":"10.1016/j.braindev.2025.104486","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104486"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145520346","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: “When neutral isn't negative: missteps in survey data analysis”","authors":"Tetsuya Okazaki ,&nbsp;Chisako Aoki ,&nbsp;Saki Shinzato ,&nbsp;Kaori Adachi ,&nbsp;Eiji Nanba","doi":"10.1016/j.braindev.2025.104481","DOIUrl":"10.1016/j.braindev.2025.104481","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104481"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145417924","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":"Effects of therapeutic instrumental music performance on upper limb motor function of children with cerebral palsy: A systematic review","authors":"Zhuolin Wu ,&nbsp;Meijiao Wu","doi":"10.1016/j.braindev.2025.104468","DOIUrl":"10.1016/j.braindev.2025.104468","url":null,"abstract":"<div><div>Therapeutic instrumental music performance (TIMP) can be used to improve limb motor function in children with cerebral palsy (CwCP). The purpose of this systematic review is to further analyze the potential therapeutic effects of TIMP on upper limb motor function in CwCP. We used the terms \"“music,\"” \"“therapeutic instrumental music performance,\"” \"“musical instruments,\"” \"“cerebral palsy,\"” \"“children,\"” \"“upper limb,\"” and \"“upper extremity\"” as our search keywords, and conducted a search of articles published in English and Chinese databases: PubMed, Cochrane, Web of Science, Wiley Online Library, CINAHL, and CNKI, Wanfang Data as of March 2025. Initially, 409 articles were retrieved. After screening titles and abstracts and assessing eligibility, eight studies were included in this review. All studies assessed hand fine motor function, and five also evaluated upper limb gross motor function. Three studies used only keyboard instruments, two exclusively percussion instruments, and three combined keyboard, percussion, and plucked instruments. The results demonstrated that TIMP effectively improves upper limb motor function in CwCP.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104468"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294472","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":"Response to response to the letter to the editor “Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy”","authors":"Christian Messina","doi":"10.1016/j.braindev.2025.104473","DOIUrl":"10.1016/j.braindev.2025.104473","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104473"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145314302","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":"Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series","authors":"Yu Kobayashi ,&nbsp;Satoru Sakuma ,&nbsp;Emiko Morimoto ,&nbsp;Hitomi Fujii ,&nbsp;Kei Yamada ,&nbsp;Moemi Hojo ,&nbsp;Masaki Miura ,&nbsp;Jun Tohyama ,&nbsp;Fuyuki Miya ,&nbsp;Mitsuhiro Kato ,&nbsp;Hirotomo Saitsu ,&nbsp;Naomichi Matsumoto","doi":"10.1016/j.braindev.2025.104478","DOIUrl":"10.1016/j.braindev.2025.104478","url":null,"abstract":"<div><h3>Objective</h3><div>Heterozygous <em>DHDDS</em> variants have been associated with intellectual disability and seizures, with or without movement disorders. We aimed to expand the known phenotypic spectrum of <em>DHDDS</em>-related disorders by elucidating the clinical characteristics of Japanese patients with recurrent <em>DHDDS</em> variants.</div></div><div><h3>Methods</h3><div>Patients with pathogenic <em>DHDDS</em> variants were recruited from individuals diagnosed with developmental and epileptic encephalopathy or progressive myoclonus epilepsies who were treated at the Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, or the Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine. <em>DHDDS</em> pathogenic variants were identified using exome sequencing. Medical records and neurophysiological data were retrospectively reviewed.</div></div><div><h3>Results</h3><div>Three <em>de novo</em> recurrent pathogenic <em>DHDDS</em> variants were identified in four patients: c.632G&gt;A, p.(Arg211Gln) in two; c.614G&gt;A, p.(Arg205Gln) in one; and c.110G&gt;A, p.(Arg37His) in one. Three patients with p.(Arg211Gln) or p.(Arg37His) presented with severe intellectual disability and intractable generalized epilepsy, characterized by myoclonic, myoclonic–atonic, and atonic seizures. Eyelid myoclonia was the initial manifestation in infancy. One patient with p.(Arg205Gln) had a relatively mild course, with focal epilepsy and less severe intellectual disability. Myoclonus and tremor were present from infancy in two patients with p.(Arg211Gln) or p.(Arg37His), and from childhood in the patient with p.(Arg205Gln). One patient with p.(Arg211Gln) exhibited polymicrogyria in the right frontal lobe. Among the three patients with generalized epilepsy, fenfluramine effectively reduced myoclonic seizures in one, while total corpus callosotomy markedly reduced myoclonic–atonic or atonic seizures with falls in another.</div></div><div><h3>Conclusion</h3><div><em>DHDDS</em>-related disorders should be considered in patients with intellectual disability, epilepsy with early-onset eyelid myoclonia and myoclonic or myoclonic–atonic seizures, and movement disorders, including myoclonus and tremor, with slow progression. We identified polymicrogyria as a novel finding in <em>DHDDS</em> patients. For drug-resistant epilepsy in these patients, corpus callosotomy and fenfluramine may represent promising treatment options, with this report providing specific insights into their efficacy.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104478"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145326434","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}