Brain & Development最新文献

{"title":"Reply to the letter regarding the article “the impact of intraventricular hemorrhage on brainstem auditory function in preterm babies”","authors":"Ze Dong Jiang","doi":"10.1016/j.braindev.2025.104480","DOIUrl":"10.1016/j.braindev.2025.104480","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104480"},"PeriodicalIF":1.3,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145417923","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":"2025-10-29","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":"Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics","authors":"Yavuz Ataş ,&nbsp;Cenk Eraslan ,&nbsp;Tuğce Ince ,&nbsp;Javid Islamli ,&nbsp;Pınar Öcbe ,&nbsp;Dilara Ece Toprak ,&nbsp;Gürsel Şen ,&nbsp;Cemile Büşra Ölçülü ,&nbsp;Özlem Yilmaz ,&nbsp;Özlem Acar ,&nbsp;Güliz Çırpanlı Ari ,&nbsp;Gamze Görgülü ,&nbsp;Pınar Yazıcı Özkaya ,&nbsp;Bülent Karapinar ,&nbsp;Coşkun Ekemen ,&nbsp;Zümrüt Şahbudak Bal ,&nbsp;Erdem Şimşek ,&nbsp;Seda Kanmaz ,&nbsp;Sanem Yilmaz ,&nbsp;Cem Çalli ,&nbsp;Hasan Tekgül","doi":"10.1016/j.braindev.2025.104472","DOIUrl":"10.1016/j.braindev.2025.104472","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the clinical and radiological characteristics of cytotoxic lesions of the corpus callosum (CLOCC) in a pediatric cohort.</div></div><div><h3>Methods</h3><div>A pediatric CLOCC cohort consisting of 16 patients was derived from the radiology database of a single tertiary institution, Ege Children's Hospital. The CLOCC diagnosis was based on previously established magnetic resonance imaging (MRI) criteria by Starkey et al.: (i) a small, round lesion centered in the splenium; (ii) a lesion centered in the splenium extending laterally through adjacent callosal fibers; or (iii) a lesion located posteriorly in the splenium extending anteriorly. The MRI characteristics of the study cohort were re-evaluated with those of other neurologic disorder groups with corpus callosum involvement: vascular lesions (<em>n</em> = 200); demyelinating disorders (<em>n</em> = 114); autoimmune encephalitis (<em>n</em> = 23); traumatic brain injury (<em>n</em> = 151). Etiology-specific diagnostic approaches, therapeutic challenges, and clinical outcomes were also analyzed.</div></div><div><h3>Results</h3><div>All patients displayed characteristic MRI features of CLOCC, including high signal on T2-weighted images, isointense-to-hypointense signal on T1-weighted images, and restricted diffusion on diffusion-weighted imaging (DWI), without contrast enhancement. The CLOCC lesions resolved within a median follow-up of 20 days (range: 5–150 days). The cohort was classified as infection-related CLOCC (62.5 %) and non-infectious CLOCC (37.5 %). The most frequent neurological symptoms at presentation were seizures (50 %) and altered consciousness (43.8 %). Immunotherapy was administered to 37.5 % of patients. None developed CLOCC-related neurological sequelae during the follow-up period.</div></div><div><h3>Conclusion</h3><div>Pediatric CLOCC is predominantly associated with symptoms related to underlying etiologic diseases, presenting diagnostic and therapeutic challenges in certain neurological conditions. The CLOCC lesions exhibit highly homogeneous MRI findings, though clinical outcomes and lesion resolution times vary depending on specific etiologies.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104472"},"PeriodicalIF":1.3,"publicationDate":"2025-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379951","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":"Clinical profiles of tuberous sclerosis complex: A regionally based survey","authors":"Misae Yamada ,&nbsp;Jun Natsume ,&nbsp;Yuki Maki ,&nbsp;Soichiro Ishimaru ,&nbsp;Shingo Numoto ,&nbsp;Satoru Kobayashi ,&nbsp;Ayako Hattori ,&nbsp;Yoshihisa Matsukawa ,&nbsp;Keiko Wakahara ,&nbsp;Naoko Ishihara ,&nbsp;Hitomi Sasaki ,&nbsp;Yuji Ito ,&nbsp;Hiroyuki Yamamoto ,&nbsp;Tomohiko Nakata ,&nbsp;Hiroyuki Kidokoro ,&nbsp;Tetsushi Yoshikawa ,&nbsp;Shinji Saitoh ,&nbsp;Akihisa Okumura ,&nbsp;Yoshiyuki Takahashi","doi":"10.1016/j.braindev.2025.104479","DOIUrl":"10.1016/j.braindev.2025.104479","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to clarify the clinical profiles of patients with tuberous sclerosis complex (TSC) in the general population by a regionally based survey of medical facilities in a region with 7.5 million residents, and investigate differences in clinical profiles according to medical facility size and type.</div></div><div><h3>Methods</h3><div>A survey was sent to 146 hospitals and clinics regarding clinical profiles of patients with TSC who lived in Aichi Prefecture, Japan, between 2013 and 2018. Medical facilities were classified as large hospitals (≥750 beds or a children's hospital), small hospitals (&lt;750 beds), institutions for handicapped children, and private clinics.</div></div><div><h3>Results</h3><div>Information was obtained of 232 patients (median age, 25 years; range, 1–81 years). Estimated prevalence of TSC was 3.1 per 100,000. Cortical tubers were present in 88 %, epilepsy in 81 %, autism spectrum disorder in 44 %, and subependymal giant cell astrocytoma in 17 %. Hypomelanotic macules, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma were present in &gt;50 % of patients. Rates of epilepsy with frequent seizures and autism spectrum disorder were both higher in patients in institutions for handicapped children. In more than half of patients in institutions for handicapped children information on cranial MRI findings was not obtained.</div></div><div><h3>Conclusions</h3><div>Our regionally based study confirmed the clinical profiles previously reported in specialized hospitals for TSC and found that clinical characteristics differed among the types and sizes of medical facilities. Multicenter information sharing and collaboration between general hospitals and institutions for handicapped children are important for the comprehensive care of patients with TSC.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104479"},"PeriodicalIF":1.3,"publicationDate":"2025-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145364704","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":"Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances–a recent review","authors":"Chakresh Kumar Jain,&nbsp;Sarita Maurya,&nbsp;Pankaj Kumar Tripathi","doi":"10.1016/j.braindev.2025.104476","DOIUrl":"10.1016/j.braindev.2025.104476","url":null,"abstract":"<div><div>Adrenoleukodystrophy (ALD) is a complex and devastating X-linked neurodegenerative disorder classified as rare brain disease with profound effects on patients and their families. It can manifest in various clinical forms, ranging from adult-onset adrenomyeloneuropathy (AMN) to rapidly developing childhood cerebral adrenoleukodystrophy (CCALD), each presenting unique diagnostic and treatment challenges. At the molecular level, ALD results from mutations in the ATP-binding cassette subfamily D member 1 (<em>ABCD1</em>) gene, which disrupts peroxisomal β-oxidation, leading to the accumulation of very long-chain fatty acids (VLCFAs) and subsequent neurological damage. Understanding these pathogenic mechanisms has led to significant improvements in diagnosis and treatment strategies. Advances such as newborn screening and molecular profiling have facilitated early detection and intervention, contributing to improved clinical outcomes. Therapeutic innovations, including gene therapy and hematopoietic stem cell transplantation (HSCT), hold promise for modifying disease progression and enhancing quality of life. Despite these developments, major challenges remain, including the identification of disease modifiers, discovery of new therapeutic targets, and establishing the personalized treatment strategies. This review summarizes the current understanding of ALD, including its clinical spectrum, molecular basis, diagnostic approaches, and emerging therapies. Ongoing research and interdisciplinary collaboration are crucial for establishing the effective management of this debilitating disorder.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104476"},"PeriodicalIF":1.3,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145364703","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":"2025-10-18","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}

{"title":"Letter regarding the article “The impact of intraventricular hemorrhage on brainstem auditory function in preterm babies”","authors":"Gül Yücel ,&nbsp;Nur Yücel Ekici","doi":"10.1016/j.braindev.2025.104474","DOIUrl":"10.1016/j.braindev.2025.104474","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104474"},"PeriodicalIF":1.3,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318938","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":"2025-10-16","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":"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":"2025-10-16","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":"Response to the letter: “AESD and vitamin therapy: The need for biomarkers and follow-up”","authors":"Yuichi Abe ,&nbsp;Tatsuya Takahashi ,&nbsp;Itaru Hayakawa ,&nbsp;Saeko Irie ,&nbsp;Nobuaki Tsuiki ,&nbsp;Atsuhi Nishioka ,&nbsp;Hiroto Ida ,&nbsp;Tsuyoshi Aihara ,&nbsp;Kentaro Ide","doi":"10.1016/j.braindev.2025.104463","DOIUrl":"10.1016/j.braindev.2025.104463","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104463"},"PeriodicalIF":1.3,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145314362","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}