Brain & Development最新文献

{"title":"The relation between neuroimaging and visual impairment in children and adolescents with cerebral palsy: A systematic review","authors":"Monica Crotti ,&nbsp;Sarah Genoe ,&nbsp;Nofar Ben Itzhak ,&nbsp;Lisa Mailleux ,&nbsp;Els Ortibus","doi":"10.1016/j.braindev.2023.11.002","DOIUrl":"10.1016/j.braindev.2023.11.002","url":null,"abstract":"<div><h3>Objective</h3><p><span><span>The structure–function relation between magnetic resonance imaging (MRI) and visual impairment (VI) in children with </span>cerebral palsy (CP) has not been fully unravelled. The present </span>systematic review<span> aims to summarize the relation between brain lesions on MRI and VI in children and adolescents with CP.</span></p></div><div><h3>Methods</h3><p>PubMed, Embase, Web of Science Core Collection, and Cochrane Database were systematically searched according to the PRISMA checklist. A total of 45 articles met the inclusion criteria.</p></div><div><h3>Results</h3><p><span>White matter lesions<span> were most frequently associated with VI. Only 25 studies described lesions within specific structures, mainly in the optic radiations. Only four studies reported on the </span></span>thalamus<span>. 8.4% of children with CP showed no brain abnormalities<span> on MRI. Diffusion-weighted MRI studies showed that decreased structural connectivity in the optic radiations, superior longitudinal fasciculus<span><span>, posterior limb of the internal capsule, and </span>occipital lobe is associated with more severe VI.</span></span></span></p></div><div><h3>Conclusions</h3><p>All types of brain lesions lead to visual dysfunctions, arguing for a comprehensive visual assessment in all children with CP. Whereas white matter damage is a well-known contributor, the exact contribution of specific visual structures requires further investigation, to enable early prediction, detection, and intervention.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138453211","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":"Corrigendum to “Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation” [Brain Dev. 38(1) (2016) 128–131]","authors":"Robertino Dilena ,&nbsp;Pasquale Striano ,&nbsp;Monica Traverso ,&nbsp;Maurizio Viri ,&nbsp;Gloria Cristofori ,&nbsp;Laura Tadini ,&nbsp;Sergio Barbieri ,&nbsp;Antonino Romeo ,&nbsp;Federico Zara","doi":"10.1016/j.braindev.2023.11.006","DOIUrl":"10.1016/j.braindev.2023.11.006","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760423001766/pdfft?md5=b0508480ea7e8a0cf4c728ce987c0d40&pid=1-s2.0-S0387760423001766-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138441732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder: A case report using eye tracking assessment","authors":"Dirk J.J. Sweere ,&nbsp;Jos G.M. Hendriksen ,&nbsp;R. Jeroen Vermeulen ,&nbsp;Sylvia Klinkenberg","doi":"10.1016/j.braindev.2023.11.004","DOIUrl":"10.1016/j.braindev.2023.11.004","url":null,"abstract":"<div><h3>Introduction</h3><p><span>Despite the increased prevalence of comorbid attention deficit hyperactivity disorder<span> (ADHD) in children with myotonic dystrophy type 1<span>, the effects of methylphenidate<span><span> treatment on associated </span>cognitive deficits in this population is not yet investigated. </span></span></span></span><em>Case:</em><span> We describe a case study of an eleven-year-old male patient with myotonic dystrophy type 1 and comorbid ADHD that was treated with methylphenidate in a twice daily regime (0.60 mg/kg/day). Positive effects on learning and cognition were reported by the parents and teachers. No negative side effects were reported. Sequential neuropsychological assessments before and 45 minutes after methylphenidate intake were conducted to quantify the cognitive effects of methylphenidate treatment. Significant improvements in regulation of attention were behaviorally observed and were quantified using eye tracking technology. </span><em>Conclusion:</em> We conclude that methylphenidate may be an effective treatment for ADHD-related cognitive deficits and learning difficulties in children with myotonic dystrophy type 1 which merits further research.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138441733","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":"Etiologies and clinical characteristics of acute ataxia in a single national children's medical center","authors":"Min Zhang ,&nbsp;Gang Pan ,&nbsp;Shuizhen Zhou ,&nbsp;Jin Shen ,&nbsp;Wenhui Li ,&nbsp;Yuanfeng Zhou ,&nbsp;Lifei Yu ,&nbsp;Linmei Zhang","doi":"10.1016/j.braindev.2023.10.005","DOIUrl":"10.1016/j.braindev.2023.10.005","url":null,"abstract":"<div><h3>Objective</h3><p>To analyze etiologic factors of pediatric acute ataxia and to identify the severity of its underlying causes for urgent medical intervention.</p></div><div><h3>Methods</h3><p>Clinical data of children diagnosed with acute ataxia between December 2015 and December 2021 from one national medical center were analyzed retrospectively.</p></div><div><h3>Results</h3><p><span><span><span>A total of 99 children (59 boys, 40 girls), median age at disease onset 55 (range: 12–168) months, were enrolled. The median follow period was 46 (range 6–78) months. Eighty-six (86.9 %) children were diagnosed with immune-associated acute ataxia, among which acute post-infectious cerebellar ataxia (APCA) was the most common diagnosis (50.5 %), followed by </span>demyelinating diseases of the </span>central nervous system<span> (18.2 %) and Guillain-Barré syndrome (9.1 %). On cerebrospinal fluid (CSF) examination, 35/73 (47.9 %) patients had pleocytosis (&gt;5 cells/mm</span></span>³<span><span>), and 18/73 (24.7 %) had elevated protein levels. Thirty-one patients (31.3 %) had an abnormal cerebral MRI. Children with other immune-associated acute cerebellar ataxia had more extracerebellar symptoms, intracranial MRI lesions, abnormal CSF results, longer hospital stay, higher recurrence rates and incidence of neurological </span>sequelae than children with APCA.</span></p></div><div><h3>Conclusion</h3><p><span>Immune-associated acute ataxia is the main cause of pediatric acute ataxia, among which APCA is the most common phenotype. However, some immune-associated diseases, especially autoantibody-mediated disease, which has a higher recurrence rate and neurological sequelae account for an increasing proportion of pediatric acute ataxia. When children present with extracerebellar symptoms, abnormal cranial MRI or CSF results, and without prodromal infection, prudent </span>differential diagnosis is recommended.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138435469","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":"RCOR1 improves neurobehaviors and neuron injury in rat cerebral palsy by Endothelin-1 targeting-induced Akt/GSK-3β pathway upregulation","authors":"Hai Xu,&nbsp;Xuetao Yu,&nbsp;Rong Xie,&nbsp;Yangyang Wang,&nbsp;Chunli Li","doi":"10.1016/j.braindev.2023.11.001","DOIUrl":"10.1016/j.braindev.2023.11.001","url":null,"abstract":"<div><h3>Background</h3><p><span><span>RE1 Silencing Transcription factor<span> (REST) corepressor 1 (RCOR1) has been reported to orchestrate </span></span>neurogenesis<span>, while its role in cerebral palsy (CP) remains elusive. Besides, RCOR1 can interact with Endothelin-1 (EDN1), and EDN1 expression is related to </span></span>brain damage. Therefore, this study aimed to explore the effects of RCOR1/EDN1 on brain damage during the progression of CP.</p></div><div><h3>Methods</h3><p>CP rats were established via hypoxia–ischemia insult, and injected with lentivirus-RCOR1, followed by examination of brain pathological conditions. The RCOR1 and EDN1 interaction was recognized using hTFtarget. Healthy rat cortical neuron cells received interference of RCOR1/EDN1 expression, and underwent oxygen-glucose deprivation/reoxygenation (OGD/R) treatment<span>, after which phenotypic and molecular assays were conducted through the biochemical method, qRT-PCR and/or western blot.</span></p></div><div><h3>Results</h3><p><span><span>RCOR1 was low-expressed but EDN1 was high-expressed in CP model rats and OGD/R-treated neurons. RCOR1 overexpression ameliorated rat neurobehaviors, alleviated brain pathological conditions, reduced TUNEL-positive cells, decreased the levels of </span>reactive oxygen species (ROS) and </span>malondialdehyde<span> (MDA), increased superoxide dismutase (SOD) level and repressed EDN1 expression in the brains of CP model rats. In neurons, RCOR1 overexpression counteracted OGD/R-induced viability decrease, reduction of the levels of RCOR1, SOD, Bcl-2, caspase-3, p-Akt/Akt and p-GSK-3β/GSK-3β, and elevation of the levels of EDN1, ROS, Bax, and cleaved caspase-3, while EDN1 overexpression did contrarily on these events. Moreover, there was a negative interplay between RCOR1 overexpression and EDN1 overexpression in OGD/R-induced neurons.</span></p></div><div><h3>Conclusion</h3><p><span>RCOR1 ameliorates neurobehaviors and suppresses neuronal apoptosis and </span>oxidative stress in CP through EDN1 targeting-mediated upregulation of Akt/GSK-3β.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136400542","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":"Early infantile spontaneous movement in very low birthweight infants is associated with sensory characteristics at the corrected age of 3 years","authors":"Osamu KOBAYASHI,&nbsp;Tomoki MAEDA,&nbsp;Kenji IHARA","doi":"10.1016/j.braindev.2023.11.003","DOIUrl":"10.1016/j.braindev.2023.11.003","url":null,"abstract":"<div><h3>Aim</h3><p>To clarify the relationship between early infantile spontaneous movement of very-low-birth-weight infants (VLBWIs) and sensory characteristics in childhood.</p></div><div><h3>Study design</h3><p>Prospective cohort study. We investigated the association between the Motor Optimality Score-Revised (MOS-R), a detailed assessment of general movements (GMs) at the corrected age of 9–17 weeks and the Infant/Toddler Sensory Profile Japanese version (ITSP-J) at the corrected age of 3 years. A multiple regression analysis was performed to examine the correlation of ITSP-J and MOS-R with patient clinical background factors.</p></div><div><h3>Subjects</h3><p>Fifty-three VLBWIs (median gestational age: 28 weeks, 6 days; median birth weight: 997 g) who were managed at the NICU of Oita University from September 2013 to June 2019.</p></div><div><h3>Results</h3><p>A multiple regression analysis revealed that the ITSP-J subscale in the sensory section of visual score was significantly correlated with the age-adequate movement repertoire subscore of MOS-R, and in the sensory section of vestibular score was correlated with the fidgety subscore of MOS-R. For both visual and vestibular section scores, intraventricular hemorrhage (IVH) showed an independent association with the MOS-R subscore.</p></div><div><h3>Conclusion</h3><p>Spontaneous movement characteristics in early infancy were associated with sensory characteristics in early childhood.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136400528","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":"A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation","authors":"Mari Akiyama ,&nbsp;Tomoyuki Akiyama ,&nbsp;Hirotomo Saitsu ,&nbsp;Yukie Tokioka ,&nbsp;Rie Tsukahara ,&nbsp;Hiroki Tsuchiya ,&nbsp;Takashi Shibata ,&nbsp;Katsuhiro Kobayashi","doi":"10.1016/j.braindev.2023.07.006","DOIUrl":"10.1016/j.braindev.2023.07.006","url":null,"abstract":"<div><h3>Background</h3><p><span><em>MECP2</em></span><span><span> is a well-known causative gene for Rett syndrome but other phenotypes have also been reported. Here, we report a case of a female patient with adolescent-onset </span>progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the </span><em>MECP2</em> gene.</p></div><div><h3>Case report</h3><p><span><span><span>The patient was a 29-year-old woman with infantile-onset intellectual disability of unspecified cause. She had demonstrated slow but steady development with moderate intellectual disability until the age of 16, when she started having epileptic seizures. Her epilepsy progressed intractably with multiple </span>seizure types accompanied by myoclonus, tremor, and gradual regression. She is currently apathetic and requires extensive assistance in all aspects of life. After an extensive work-up for underlying </span>diseases for PME turned out negative, whole-exome sequencing revealed a </span><em>de novo</em> 113-bp deletion and 3-bp insertion in <em>MECP2</em>, a variant of NM_004992.4:c.1099_1211delinsGGG, p.(His367Glyfs*32).</p></div><div><h3>Conclusions</h3><p>The clinical presentation of this case was inconsistent with Rett syndrome, and the rapid regression in the patient’s twenties was considered characteristic. Mutations of <em>MECP2</em> may result in variable neurodevelopmental phenotypes and may also be considered a causative gene for adolescent-onset PME.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9945309","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":"ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview","authors":"Greta Amore ,&nbsp;Elisa Calì ,&nbsp;Maria Spanò ,&nbsp;Giorgia Ceravolo ,&nbsp;Giuseppe Donato Mangano ,&nbsp;Giovanna Scorrano ,&nbsp;Stephanie Efthymiou ,&nbsp;Vincenzo Salpietro ,&nbsp;Henry Houlden ,&nbsp;Gabriella Di Rosa","doi":"10.1016/j.braindev.2023.07.004","DOIUrl":"10.1016/j.braindev.2023.07.004","url":null,"abstract":"<div><h3>Background</h3><p><em>ATP6V1B2</em><span> (ATPase, H+ transporting, lysosomal VI subunit B, isoform 2) encodes for a subunit of a ubiquitous transmembrane lysosomal proton pump, implicated in the acidification of intracellular organelles and in several additional cellular functions. Variants in </span><em>ATP6V1B2</em> have been related to a heterogeneous group of multisystemic disorders sometimes associated with variable neurological involvement. However, our knowledge of genotype-phenotype correlations and the neurological spectrum of <em>ATP6V1B2</em>-related disorders remain limited due to the few numbers of reported cases.</p></div><div><h3>Case study</h3><p><span><span>We hereby report the case of an 18-year-old male Sicilian patient affected by a global developmental delay, skeletal abnormalities, and epileptic encephalopathy featuring Lennox-Gastaut syndrome (LGS), in which </span>exome sequencing led to the identification of a novel </span><em>de novo</em> variant in <em>ATP6V1B2</em> (NM_001693.4: c.973G &gt; C, p.Gly325Arg).</p></div><div><h3>Conclusions</h3><p>Our report provides new insights on the inclusion of developmental epileptic encephalopathies (DEEs) within the continuum group of <em>ATP6V1B2</em>-related disorders, expanding the phenotypic and molecular spectrum associated with these conditions.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10131114","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":"Progress in the treatment of neonatal hypoxic-ischemic encephalopathy with umbilical cord blood mononuclear cells","authors":"Jiayu Zhou,&nbsp;Ting Gao,&nbsp;Wan Tang,&nbsp;Tianyang Qian,&nbsp;Ziming Wang,&nbsp;Pu Xu,&nbsp;Laishuan Wang","doi":"10.1016/j.braindev.2023.09.001","DOIUrl":"10.1016/j.braindev.2023.09.001","url":null,"abstract":"<div><p><span><span>Neonatal hypoxic-ischemic encephalopathy (HIE) is a common disease among newborns<span>, which is a leading cause of neonatal death and permanent neurological </span></span>sequelae<span>. Therapeutic hypothermia (TH) is the only method for the treatment of HIE that has been recognized effective clinically at home and abroad, but the efficacy is limited. Recent research suggests that the cord blood-derived </span></span>mononuclear cells<span> (CB-MNCs), which the refer to blood cells containing one nucleus in the cord blood, exert anti-oxidative, anti-inflammatory, anti-apoptotic effects and play a neuroprotective role in HIE. This review focuses on safety and efficacy, the route of administration, dose, timing and combination treatment of CB-MNCs in HIE.</span></p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41161764","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":"A screening method for visual attention disabilities in cerebral palsy with periventricular leukomalacia","authors":"Toshiyuki Shimizu ,&nbsp;Yasushi Miura","doi":"10.1016/j.braindev.2023.06.007","DOIUrl":"10.1016/j.braindev.2023.06.007","url":null,"abstract":"<div><h3>Purpose</h3><p><span>Patients with periventricular leukomalacia (PVL) have been reported to have a variety of complications; however, whether these involve impaired visual attention disabilities remains unclear. Therefore, this study aimed to investigate the presence or absence and degree of visual attention disabilities </span>in patients with PVL and propose a screening test that would allow anyone to check for visual attention disabilities easily.</p></div><div><h3>Methods</h3><p>The study participants were 14 patients with PVL and seven controls with dyskinetic cerebral palsy. All participants performed three types of visual attention tasks: spatial attention tasks, feature-based attention tasks, and object-based attention tasks. The participants also performed counting tasks to determine how many squares of the same size and color could be counted (up to nine). Receiver operating characteristic analysis was used to calculate cutoff values, with disability as the objective variable and the value of the counting task as the explanatory variable.</p></div><div><h3>Results</h3><p>The results revealed that patients with PVL often had visual attention disabilities, as indicated by a significant reduction in tasks requiring divided attention. Visual attention disabilities could be detected by a score of ≤8 in the square counting task.</p></div><div><h3>Conclusions</h3><p>These findings suggest that family members and teachers of patients with PVL can easily screen for visual attention disabilities at home and school to improve mobility precautions in patients with this disability.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9889268","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}