Brain & Development最新文献

{"title":"Cover","authors":"","doi":"10.1016/S0387-7604(24)00106-2","DOIUrl":"10.1016/S0387-7604(24)00106-2","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424001062/pdfft?md5=7e8f3e78e59b3770b23bd139f46b4483&pid=1-s2.0-S0387760424001062-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142012946","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":"Call for Abstracts for Oral and Poster Presentations","authors":"","doi":"10.1016/S0387-7604(24)00108-6","DOIUrl":"10.1016/S0387-7604(24)00108-6","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424001086/pdfft?md5=3c4b1ca00712a1ba558a4a0ae479a2e8&pid=1-s2.0-S0387760424001086-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142012944","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":"Epileptic foci and networks in children with epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion","authors":"Takamasa Mitsumatsu ,&nbsp;Yuji Ito ,&nbsp;Yuki Maki ,&nbsp;Hiroyuki Yamamoto ,&nbsp;Fumi Sawamura ,&nbsp;Tomotaka Ishizaki ,&nbsp;Satoshi Maesawa ,&nbsp;Epifanio Bagarinao ,&nbsp;Tomohiko Nakata ,&nbsp;Hiroyuki Kidokoro ,&nbsp;Ryuta Saito ,&nbsp;Jun Natsume","doi":"10.1016/j.braindev.2024.07.003","DOIUrl":"10.1016/j.braindev.2024.07.003","url":null,"abstract":"<div><p><strong><em>Background</em></strong>: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) develops along with status epilepticus and widespread subcortical white matter edema. We aimed to evaluate the epileptic foci and networks in two patients with epilepsy after AESD using simultaneous electroencephalography and functional magnetic resonance imaging (EEG-fMRI). <strong><em>Methods:</em></strong> Statistically significant blood oxygen level-dependent (BOLD) responses related to interictal epileptiform discharges (IEDs) were analyzed using an event-related design of hemodynamic response functions with multiple peaks. <strong><em>Results:</em></strong> Patient 1 developed focal seizures at age 10 years, one year after AESD onset. Positive BOLD changes were observed in the bilateral frontotemporal lobes, left parietal lobe, and left insula. BOLD changes were also observed in the subcortical structures. Patient 2 developed epileptic spasms at age two years, one month after AESD onset. Following total corpus callosotomy (CC) at age three years, the epileptic spasms resolved, and neurodevelopmental improvement was observed. Before CC, positive BOLD changes were observed bilaterally in the frontotemporal lobes. BOLD changes were also observed in the subcortical structures. After CC, the positive BOLD changes were localized in the temporal lobe ipsilateral to the IEDs, and the negative BOLD changes were mainly in the cortex and subcortical structures of the hemisphere ipsilateral to IEDs. <strong><em>Conclusion:</em></strong> EEG-fMRI revealed multiple epileptic foci and extensive epileptic networks, including subcortical structures in two cases with post-AESD epilepsy. CC may be effective in disconnecting the bilaterally synchronous epileptic networks of epileptic spasms after AESD, and pre-and post-operative changes in EEG-fMRI may reflect improvements in epileptic symptoms.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141876838","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, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency","authors":"J.M. Zhang ,&nbsp;L.L. Hao ,&nbsp;W.J. Qiu ,&nbsp;H.W. Zhang ,&nbsp;T. Chen ,&nbsp;W.J. Ji ,&nbsp;Y. Zhang ,&nbsp;F. Liu ,&nbsp;X.F. Gu ,&nbsp;S.H. Yang ,&nbsp;L.S. Han","doi":"10.1016/j.braindev.2024.07.001","DOIUrl":"10.1016/j.braindev.2024.07.001","url":null,"abstract":"<div><h3>Background</h3><p>Malonyl-CoA decarboxylase (MLYCD) deficiency, also known as malonic aciduria (MAD), is a rare autosomal recessive inherited metabolic defect. In this study, we aimed to investigate the clinical and molecular features of five patients with MAD in order to increase clinicians’ awareness of the disease.</p></div><div><h3>Methods</h3><p>Sanger sequencing was used to detect and genetically analyze the <em>MLYCD</em> variations in the preexisting patients and their parents.</p></div><div><h3>Results</h3><p>Five patients with MAD (5 months to 9.6 years old; two males and three females) rarely exhibited metabolic decompensation episodes or seizures. All patients exhibited varying degrees of developmental delay and hypotonia. Our study expands the spectrum of variants of the <em>MLYCD</em> gene. <em>MLYCD</em> gene variations were detected in all five patients, and five new variants were identified: c.60delG (p.Arg21Glyfs*52), c.928C &gt; T (p.Arg310*), c.1293G &gt; T (p.Trp431Cys), c.721T &gt; C (p.Ser241Pro), and Exons 4–5 deletion. Additionally, there is no correlation between various genotypes and phenotypes.</p></div><div><h3>Conclusion</h3><p>A high-medium-chain triglyceride and low-long-chain triglyceride diet supplemented with L-carnitine was effective in most patients and may improve cardiomyopathy and muscle weakness. Newborn screening may aid in the early diagnosis, treatment, and prognosis of this rare disorder.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000962/pdfft?md5=c9914f5f3899b9ea7a627e48144d5c79&pid=1-s2.0-S0387760424000962-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790079","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":"Effect of cannabidiol as a neuroprotective agent on neurodevelopmental impairment in rats with neonatal hypoxia","authors":"Ángela Hernández-Suárez ,&nbsp;Luis A. Marin-Castañeda ,&nbsp;Carmen Rubio ,&nbsp;Héctor Romo-Parra","doi":"10.1016/j.braindev.2024.07.002","DOIUrl":"10.1016/j.braindev.2024.07.002","url":null,"abstract":"<div><h3>Objective</h3><p>This study aims to investigate the neuroprotective effects of cannabidiol (CBD) on neurodevelopmental impairments in rats subjected to neonatal hypoxia, specifically examining its potential to mitigate motor and sensory deficits without the confounding effects of ischemia.</p></div><div><h3>Methods</h3><p>Neonatal Sprague-Dawley rats were allocated to one of four groups: Control, Control-CBD, Hypoxia, and Hypoxia-CBD. Hypoxia was induced on postnatal days 0 and 1. CBD (50 mg/kg) was administered orally for 14 days starting at postnatal day 0. Neurodevelopmental outcomes were assessed using the Neurodevelopmental Reflex Testing in Neonatal Rat Pups scale and the Revised Neurobehavioral Severity Scale for rodents. Statistical analyses were conducted using two-way and one-way ANOVA, with Tukey’s post-hoc tests for group comparisons.</p></div><div><h3>Results</h3><p>Pup weights were recorded on specified postnatal days, with no significant differences observed across the groups (p = 0.1834). Significant neurological impairments due to hypoxia were noted in the Control group compared to the Hypoxia group, particularly in hindlimb grasping on postnatal day 3 (p = 0.0025), posture on postnatal day 12 (p = 0.0073), and in general balance and sound reflex on postnatal day 20 (p = 0.0016 and p = 0.0068, respectively). Additionally, a statistically significant improvement in posture was observed in the Hypoxia-CBD group compared to the Hypoxia group alone (p = 0.0024).</p></div><div><h3>Conclusion</h3><p>Our findings indicate that CBD possesses neuroprotective properties that significantly counteract the neurodevelopmental impairments induced by neonatal hypoxia in rats. This study not only supports the therapeutic potential of CBD in managing conditions characterized by neurodevelopmental challenges due to hypoxia but also underscores the necessity for further investigation into the specific molecular mechanisms driving CBD’s neuroprotective effects. Further research is essential to explore CBD’s clinical applications and its potential role in treating human neurodevelopmental disorders.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141790080","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":"Glass syndrome derived from chromosomal breakage downstream region of SATB2","authors":"","doi":"10.1016/j.braindev.2024.06.003","DOIUrl":"10.1016/j.braindev.2024.06.003","url":null,"abstract":"<div><h3>Background</h3><p><span>Glass syndrome, derived from chromosomal 2q33.1 microdeletions, manifests with intellectual disability, microcephaly, epilepsy, and distinctive features, including micrognathia, down-slanting palpebral fissures, cleft palate, and crowded teeth. Recently, </span><span><em>SATB2</em></span> located within the deletion region, was identified as the causative gene responsible for Glass syndrome. Numerous disease-causing variants within the <em>SATB2</em><span> coding region have been reported.</span></p></div><div><h3>Objective</h3><p>Given the presentation of intellectual disability and multiple congenital anomalies in a patient with a de novo reciprocal translocation<span> between chromosomes 1 and 2, disruption of the causative gene(s) was suspected. This study sought to identify the causative gene in the patient.</span></p></div><div><h3>Methods</h3><p>Long-read whole-genome sequencing was performed, and the expression level of the candidate gene was analyzed.</p></div><div><h3>Results</h3><p>The detection of breakpoints was successful. While the breakpoint on chromosome 1 disrupted <em>RNF220</em><span>, it was not deemed to be a genetic cause. Conversely, </span><em>SATB2</em> is located in the approximately 100-kb telomeric region of the breakpoint on chromosome 2. The patient’s clinical features resembled those of previously reported cases of Glass syndrome, despite the lack of confirmed reduced <em>SATB2</em> expression.</p></div><div><h3>Conclusion</h3><p>The patient was diagnosed with Glass syndrome due to the similarity in clinical features. This led us to hypothesize that disruption in the downstream region of <em>SATB2</em><span> could result in Glass syndrome. The microhomologies identified in the breakpoint junctions indicate a potential molecular mechanism involving microhomology-mediated break-induced repair mechanism or template switching.</span></p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141556095","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":"Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey","authors":"","doi":"10.1016/j.braindev.2024.06.002","DOIUrl":"10.1016/j.braindev.2024.06.002","url":null,"abstract":"<div><h3>Objective</h3><p>This study aimed to investigate the clinical characteristics of pediatric-onset dystonia in Japan, addressing the diagnostic challenges arising from symptom variations and etiological diversity.</p></div><div><h3>Methods</h3><p>From 2020 to 2022, questionnaires were distributed to 1218 board certified child neurologists (BCCNs) by Japanese Society of Child Neurology. In the primary survey, participants were asked to report the number of patients with pediatric-onset dystonia under their care. Subsequently, the follow-up secondary survey sought additional information on the clinical characteristics of these patients.</p></div><div><h3>Results</h3><p>The primary survey obtained 550 responses (response rate: 45 %) from BCCNs for their 736 patients with dystonia. The predominant etiologies included inherited cases (with DYT10  &lt;PxMD-<em>PRRT2</em>&gt; being the most prevalent, followed by DYT5 &lt;DYT/PARK-<em>GCH1</em>&gt; and <em>ATP1A3</em>-related neurologic disorders), acquired cases (with perinatal abnormalities being the most common), and idiopathic cases. The secondary survey provided clinical insights into 308 cases from 82 BCCNs. Infancy-onset dystonia presented as persistent and generalized with diverse symptoms, primarily linked to <em>ATP1A3</em>-related neurologic disorders and other genetic disorders resembling acquired dystonia. Conversely, childhood/adolescent-onset dystonia showed paroxysmal, fluctuating courses, predominantly affecting limbs. The most common etiologies were DYT5 &lt;DYT/PARK-<em>GCH1</em>&gt; and DYT10 &lt;PxMD-<em>PRRT2</em>&gt;, leading to therapeutic diagnoses.</p></div><div><h3>Conclusion</h3><p>Pediatric-onset dystonia in Japan was treated by 28 % of BCCNs. The majority of cases were inherited, with high prevalence rates of DYT5 &lt;DYT/PARK-<em>GCH1</em>&gt; and DYT10 &lt;PxMD-<em>PRRT2</em>&gt;. Infancy-onset dystonia exhibits diverse etiologies and symptoms, emphasizing the utility of various examinations, including genetic testing. These findings significantly contribute to our understanding of pediatric-onset dystonia in Japan, although this study has the limitation of questionnaire survey.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000949/pdfft?md5=1dd733b80e076b5e12f46a2ffd25367c&pid=1-s2.0-S0387760424000949-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141473051","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":"Cover","authors":"","doi":"10.1016/S0387-7604(24)00082-2","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00082-2","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000822/pdfft?md5=854145fc76587376a19d68430464286c&pid=1-s2.0-S0387760424000822-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141313373","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":"Serum 25(OH)D and vitamin K1 levels in patients with severe motor and intellectual disability: A Japanese single-center experience","authors":"","doi":"10.1016/j.braindev.2024.06.001","DOIUrl":"10.1016/j.braindev.2024.06.001","url":null,"abstract":"<div><h3>Purpose</h3><p><span>To investigate whether patients with severe motor and intellectual disability (SMID) have nutritional </span>vitamin D<span> and K insufficiencies and clarify the required vitamin supplementation.</span></p></div><div><h3>Methods</h3><p><span>This prospective observational study enrolled Japanese adults with SMID receiving institutionalized care who underwent blood sampling<span> between February 2020 and February 2022 during annual medical checkups. Serum vitamin K</span></span>₁<span> and 25-hydroxy vitamin D<span> (25(OH)D) levels were measured to determine their relationship with serum uncarboxylated osteocalcin<span> (ucOC) levels. Vitamin D and K intake was compared among tube-fed and oral-intake patients with SMID and control participants using corresponding serum levels.</span></span></span></p></div><div><h3>Results</h3><p><span>The study included 124 patients with SMID (56 men and 68 women; mean age: 53.0 years) and 20 control participants. Serum 25(OH)D levels were significantly higher in the SMID group than in the control group and the oral intake SMID group than in the tube-fed SMID group. In the tube-fed SMID group, vitamin D<span><span> intake was lower than the daily recommended intake and correlated with serum 25(OH)D levels. Daily vitamin K intake in the tube-fed group was lower than recommended but not correlated with serum vitamin </span>K levels<span>. Serum ucOC levels were significantly higher in the SMID group than in the control group. Tube feeding was significantly and positively correlated with serum 25(OH)D levels. Serum 25(OH)D levels were not correlated with serum vitamin K</span></span></span>₁ levels.</p></div><div><h3>Conclusions</h3><p>The SMID group had higher ucOC levels than the control group, possibly owing to daily vitamin K and D deficiencies. Vitamin D supplementation is recommended to decrease ucOC levels.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141322130","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":"Glucose instability and outcomes of neonates with hypoxic ischemic encephalopathy undergoing therapeutic hypothermia","authors":"","doi":"10.1016/j.braindev.2024.05.003","DOIUrl":"10.1016/j.braindev.2024.05.003","url":null,"abstract":"<div><h3>Background</h3><p>To investigate the prevalence and associated outcomes of glucose abnormalities in infants with hypoxic ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH).</p></div><div><h3>Methods</h3><p>Glucose values were reviewed in all HIE infants. Pearson’s correlation was used to assess the association of hypo- and hyperglycemic episodes with neonatal brain MRI and neurodevelopmental outcomes (NDO) at 12 &amp; 24 months.</p></div><div><h3>Results</h3><p>Of 153 infants included, 31, 56 and 43 had episodes of hypo-, hyperglycemia<span> and combined, respectively. Hyperglycemia and combined hypo/hyper had higher mortality (p = 0.035), seizures<span> (p = 0.009), and longer hospitalization (p = 0.023). Hypo- and hyperglycemia<span><span> were associated with parenchymal hemorrhages (p = 0.028 &amp; p = 0.027, respectively). Hypoglycemia was associated with restricted diffusion (p = 0.014), while hyperglycemia was associated with cortical </span>injuries (p = 0.045). Each hour of hyper- or hypoglycemia was associated with 5.2–5.8 times unfavorable outcomes (p &lt; 0.001).</span></span></span></p></div><div><h3>Conclusion</h3><p>Blood glucose aberrations were detrimental in HIE infants treated with TH. Optimizing glucose management is crucial in this setting.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141089140","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}