Brain & Development最新文献

{"title":"Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy","authors":"Taemi Niimi ,&nbsp;Yuji Inaba ,&nbsp;Hideo Honda","doi":"10.1016/j.braindev.2024.03.006","DOIUrl":"10.1016/j.braindev.2024.03.006","url":null,"abstract":"<div><h3>Background</h3><p>Autism spectrum disorder (ASD) ranges from mild to severe symptoms, with autistic traits possibly distributed throughout the population. However, the precise neurodevelopmental differences in children with autistic traits remain unknown.</p></div><div><h3>Subjects and methods</h3><p>Fifty-three healthy volunteers (32 male and 21 female, mean [standard deviation] age: 12.9 [2.5] years) having a normal intelligence quotient and without social impairment were divided into two groups according to scores of the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS). Subjects with or without autistic traits were placed into the high-PARS (n = 14) or low-PARS (n = 39) group, respectively. Activation of the prefrontal cortex was estimated using change in hemoglobin oxygenation concentration (Δ[oxy-Hb]) on near-infrared spectroscopy (NIRS) during a verbal fluency test. Age-related changes in prefrontal cortex activation were first assessed for each group. Then, the effects of age (elementary school age or junior/senior high school age) and PARS score on Δ[oxy-Hb] in the task were analyzed by two-way analysis of variance.</p></div><div><h3>Results</h3><p>We observed significant positive correlations between mean Δ[oxy-Hb] and age in the prefrontal cortex region in the low-PARS group. Mean Δ[oxy-Hb] in the low-PARS group was significantly higher than in the high-PARS group. Task performance results were comparable between the groups.</p></div><div><h3>Conclusion</h3><p>In PARS-determined typically developed children, prefrontal cortex activation on NIRS correlated positively with age. In healthy volunteers without ASD but harboring autistic traits, prefrontal cortex activation was markedly lower than in normal counterparts. Our results provide biological evidence that ASD may be a pervasively distributed disorder.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 7","pages":"Pages 235-243"},"PeriodicalIF":1.7,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140332352","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 increased physical therapy staffing in the neonatal intensive care unit on oral feeding maturation and neurodevelopment of extremely low birth weight infants","authors":"Yoshinori Morioka ,&nbsp;Masayuki Nonogaki ,&nbsp;Daiyu Kobayashi ,&nbsp;Junji Nishimoto ,&nbsp;Shigeru Obayashi","doi":"10.1016/j.braindev.2024.03.005","DOIUrl":"10.1016/j.braindev.2024.03.005","url":null,"abstract":"<div><h3>Background</h3><p>It remains a matter of debate as to what extent early intervention may facilitate long-term functional outcomes of preterm infants in the neonatal intensive care unit (NICU). We aimed to examine the effect of increasing physical therapy (PT) staff dedicated to the NICU on temporal changes (initiation, duration) of PT interventions and functional outcomes (acquisition of full oral feeding and Hammersmith Neonatal Neurological Examination).</p></div><div><h3>Methods</h3><p>Extremely low birth weight infants, retrospectively collected from an academic medical center, were allocated to two subgroups, either a baseline period (N = 48) without NICU-dedicated PT staff (non-dedicated group) or a quality improvement period (N = 42) with additional dedicated staff (dedicated group).</p></div><div><h3>Results</h3><p>Compared to those in the non-dedicated group, NICU infants in the dedicated group started PT earlier and had increased PT treatment for additional 14 min per day when achieving full oral feeding. The infants in the dedicated group significantly achieved full oral feeding earlier than the non-dedicated group. As for Hammersmith Neonatal Neurological Examination, there were significant differences in two items (total and tone) between the groups.</p></div><div><h3>Conclusions</h3><p>Additional NICU-dedicated PT staff facilitated earlier intervention and increased PT treatment in terms of daily duration. Moreover, the dedication shortened the completion of full oral feeding and improved neurological development, presumably resulting in better developmental outcome.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 6","pages":"Pages 224-229"},"PeriodicalIF":1.7,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140332353","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":"Cover","authors":"","doi":"10.1016/S0387-7604(24)00051-2","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00051-2","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 5","pages":"Page IBC"},"PeriodicalIF":1.7,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000512/pdfft?md5=e9ce175c74be60378a337af2ef4b0210&pid=1-s2.0-S0387760424000512-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140191530","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":"Prophylactic antiseizure medications for recurrent status epilepticus in nonsyndromic childhood epilepsy","authors":"Hirokazu Takeuchi ,&nbsp;Norimichi Higurashi ,&nbsp;Yurika Toga","doi":"10.1016/j.braindev.2024.03.004","DOIUrl":"10.1016/j.braindev.2024.03.004","url":null,"abstract":"<div><h3>Purpose</h3><p>The management of status epilepticus (SE) has mainly focused on the termination of ongoing SE episodes. However, long-term therapeutic strategies for the prevention of SE are lacking. This study aimed to investigate the effectiveness of prophylactic antiseizure medications (ASMs) for SEs in nonsyndromic childhood epilepsy.</p></div><div><h3>Methods</h3><p>This retrospective study was conducted at Jikei University Hospital. Patients &lt;18 years of age, diagnosed with epilepsy, and experiencing three or more SE episodes within 1 year between April 1, 2017, and October 1, 2021, were included. ASMs introduced for seizure types that developed into SE were evaluated. The effectiveness of ASMs was determined by using the “Rule of Three”: An ASM was determined effective if patients were free of SE for a duration at least three times that of their longest SE interval in 12 months prior to intervention.</p></div><div><h3>Results</h3><p>The investigation included a total of 32 ASMs administered to 13 patients. The longest interval between SE episodes before ASM administration was 28–257 d. The first SE interval after ASM administration was 12–797 d. Levetiracetam (LEV) and clobazam (CLB) showed effectiveness in 2/10 and 5/6 patients, respectively. Other ASMs were ineffective. The leading etiology of epilepsy was perinatal brain injury, identified in four patients, and CLB was effective in all of them.</p></div><div><h3>Conclusions</h3><p>The present study suggests that CLB and LEV may prolong the SE interval in some cases of nonsyndromic childhood epilepsy. CLB may be beneficial, particularly in patients with perinatal brain injury.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 6","pages":"Pages 219-223"},"PeriodicalIF":1.7,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140190464","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":"Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center","authors":"Merve Feyza Yüksel ,&nbsp;Neslihan Doğulu ,&nbsp;Miraç Yıldırım ,&nbsp;Engin Köse ,&nbsp;Ömer Bektaş ,&nbsp;Fatma Tuba Eminoğlu ,&nbsp;Serap Teber","doi":"10.1016/j.braindev.2024.03.003","DOIUrl":"10.1016/j.braindev.2024.03.003","url":null,"abstract":"<div><h3>Objective</h3><p>Infantile epileptic spasm syndrome (IESS), including West syndrome (WS) and infantile spasm (IS), causes a challenging prognosis, particularly when associated with metabolic etiologies.</p></div><div><h3>Methods</h3><p>This study, conducted at a tertiary pediatric neurology center, explored the prevalence and clinical features of inborn errors of metabolism in 112 children with IESS over 10 years.</p></div><div><h3>Results</h3><p>Most patients presented with seizures, primarily flexor spasms, and the median age at onset was 5 months. Comprehensive clinical evaluation and neuroimaging revealed structural-acquired causes as the most common etiology. Notably, inborn errors of metabolism were identified in 5.4 % of cases, with six distinct diagnoses including nonketotic hyperglycinemia, pyridoxine-dependent epilepsy, primary coenzyme Q10 deficiency 7, congenital disorder of glycosylation type IIM, 6-pyruvoyl tetrahydrobiopterin synthase deficiency, and argininosuccinate lyase deficiency. The prevalence of inborn errors of metabolism in this cohort was consistent with global variations reported in the literature. Genetic testing, including karyotype analysis and whole exome sequencing, was performed in a subset of cases with no clear diagnosis, revealing abnormalities in approximately 50 % of cases. Adrenocorticotropic hormone emerged as the most frequently prescribed antiseizure medication.</p></div><div><h3>Conclusion</h3><p>This study provides insight into the diagnostic challenges associated with IESS and highlights the importance of metabolic investigations, especially in cases without a clear etiology. The findings emphasize the need for further genetic and metabolic studies to enhance prognostic accuracy and guide potential treatment options for children with IESS, particularly in populations with high rates of consanguinity.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 6","pages":"Pages 213-218"},"PeriodicalIF":1.7,"publicationDate":"2024-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140141180","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 case of L1 syndrome that may have developed due to skewed X inactivation","authors":"Tatsuo Mori ,&nbsp;Mutsuki Nakano ,&nbsp;Takahiro Tayama ,&nbsp;Aya Goji ,&nbsp;Yoshihiro Toda ,&nbsp;Shinichi Kameyama ,&nbsp;Takeshi Mizuguchi ,&nbsp;Maki Urushihara ,&nbsp;Naomichi Matsumoto","doi":"10.1016/j.braindev.2024.03.001","DOIUrl":"10.1016/j.braindev.2024.03.001","url":null,"abstract":"<div><h3>Background</h3><p>Heterozygous <em>L1CAM</em> variants cause L1 syndrome with hydrocephalus and aplasia/hypoplasia of the corpus callosum. L1 syndrome usually has an X-linked recessive inheritance pattern; however, we report a rare case occurring in a female child.</p></div><div><h3>Case presentation</h3><p>The patient’s family history was unremarkable. Fetal ultrasonography revealed enlarged bilateral ventricles of the brain and hypoplasia of the corpus callosum. The patient was born at 38 weeks and 4 days of gestation. Brain MRI performed on the 8th day of life revealed enlargement of the brain ventricles, marked in the lateral and third ventricles with irregular margins, and hypoplasia of the corpus callosum. Exome sequencing at the age of 2 years and 3 months revealed a de novo heterozygous <em>L1CAM</em> variant (NM_000425.5: c.2934_2935delp. (His978Glnfs * 25). X-chromosome inactivation using the human androgen receptor assay revealed that the pattern of X-chromosome inactivation in the patients was highly skewed (96.6 %). The patient is now 4 years and 11 months old and has a mild developmental delay (developmental quotient, 56) without significant progression of hydrocephalus.</p></div><div><h3>Conclusion</h3><p>In this case, we hypothesized that the dominant expression of the variant allele arising from skewed X inactivation likely caused L1 syndrome. Symptomatic female carriers may challenge the current policies of prenatal and preimplantation diagnoses.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 6","pages":"Pages 230-233"},"PeriodicalIF":1.7,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121454","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":"Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C","authors":"Muneaki Matsuo ,&nbsp;Takafumi Sakakibara ,&nbsp;Yoshio Sakiyama ,&nbsp;Tetsumin So ,&nbsp;Motomichi Kosuga ,&nbsp;Toshihiko Kakiuchi ,&nbsp;Fumio Ichinose ,&nbsp;Takuji Nakamura ,&nbsp;Yoichi Ishitsuka ,&nbsp;Tetsumi Irie","doi":"10.1016/j.braindev.2024.03.002","DOIUrl":"10.1016/j.braindev.2024.03.002","url":null,"abstract":"<div><h3>Background and objectives</h3><p>Niemann–Pick type C (NPC) is a rare lysosomal storage disease characterized by hepatosplenomegaly and progressive neurological deterioration due to abnormal intracellular cholesterol transport. Cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPBCD) is an effective treatment for NPC; however, few reports have shown its long-term efficacy and safety. To demonstrate long-term efficacy and safety of intrathecal HPBCD (IT-HPBCD) treatment for NPC, we herein reports five patients with NPC treated using IT-HPBCD for 4–11 years.</p></div><div><h3>Cases and results</h3><p>Patients’ ages at the onset ranged from 1.5 to 20 years. Notably, all patients showed rapid disease progression despite treatment with miglustat before IT-HPBCD treatment. Similarly, some patients showed transient improvement; however, all patients’ conditions stabilized after long-term IT-HPBCD therapy. Mild-to-moderate hearing loss was observed in three patients. Furthermore, long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, patients still experience some disease progression.</p></div><div><h3>Conclusions</h3><p>Long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, the treatment outcome is dependent on the neurological status at the time of diagnosis, and disease progression is not completely inhibited. Awareness of the disease and newborn screening is needed for earlier disease detection. In addition, further optimization of the treatment protocol and additional treatments are needed to improve patient outcomes.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 5","pages":"Pages 207-212"},"PeriodicalIF":1.7,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S038776042400041X/pdfft?md5=8e5bad62db3da27a2ad5f8a9e372a2f5&pid=1-s2.0-S038776042400041X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051146","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)00036-6","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00036-6","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 4","pages":"Page IBC"},"PeriodicalIF":1.7,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000366/pdfft?md5=5cf6b3ee789ecd327213d8a9b32bb017&pid=1-s2.0-S0387760424000366-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140041956","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":"The muscle regeneration marker FOXP3 is associated with muscle injury in Duchenne muscular dystrophy","authors":"Sthephanie Yannin Hernández-de la Cruz ,&nbsp;Thania Ordaz-Robles (Methodology, Data curation, Validation, Writing – review & editing) ,&nbsp;Marco Antonio Villaldama-Soriano ,&nbsp;Cristian Emmanuel Luna-Guzmán ,&nbsp;Tomas Almeida-Becerril ,&nbsp;Judith Villa-Morales ,&nbsp;Alan Cárdenas-Conejo ,&nbsp;Eugenia Dolores Ruíz-Cruz ,&nbsp;Jorge Maldonado-Hernandez ,&nbsp;Mariela Bernabe-Garcia ,&nbsp;Lourdes Barbosa-Cortés ,&nbsp;Maricela Rodríguez-Cruz","doi":"10.1016/j.braindev.2024.02.001","DOIUrl":"10.1016/j.braindev.2024.02.001","url":null,"abstract":"<div><h3>Background</h3><p>In Duchenne muscular dystrophy (DMD), the immune system cells (ISC) synthesize molecules to regulate inflammation, a process needed to regenerate muscle. The relationship between those molecules and the muscle injury is unknown. Monocytes belonging to ISC are regulated by omega-3 fatty acids (ω-3 LCPUFAs) in DMD, but whether those fatty acids influence other ISC like T-cells is unknown.</p></div><div><h3>Objective</h3><p>We analyzed the expression of the muscle regeneration markers (<em>FOXP3</em> and <em>AREG</em>) in circulating leukocytes of DMD patients with different lower limb muscle functions and whether ω-3 LCPUFAs regulate the expression of those markers, and the populations of circulating T-cells, their intracellular cytokines, and disease progression (CD69 and CD49d) markers.</p></div><div><h3>Methods</h3><p>This placebo-controlled, double-blind, randomized study was conducted in DMD boys supplemented with ω-3 LCPUFAs (<em>n</em> = 18) or placebo (sunflower oil, <em>n</em> = 13) for six months. <em>FOXP3</em> and <em>AREG</em> mRNA expression in leukocytes, immunophenotyping of T-cell populations, CD49d and CD69 markers, and intracellular cytokines in blood samples were analyzed at baseline and months 1, 2, 3, and 6 of supplementation.</p></div><div><h3>Results</h3><p>Patients with assisted ambulation expressed higher (<em>P =</em> 0.015) <em>FOXP3</em> mRNA levels than ambulatory patients. The <em>FOXP3</em> mRNA expression correlated (<em>Rho</em> = -0.526, <em>P</em> = 0.03) with the Vignos scale score at month six of supplementation with ω-3 LCPUFAs. CD49d + CD8 + T-cells population was lower (<em>P =</em> 0.037) in the ω −3 LCPUFAs group than placebo at month six of supplementation.</p></div><div><h3>Conclusion</h3><p><em>FOXP3</em> is highly expressed in circulating leukocytes of DMD patients with the worst muscle function. Omega-3 LCPUFAs might modulate the synthesis of the adhesion marker CD49d + CD8 + T-cells, but their plausible impact on <em>FOXP3</em> needs more research.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 5","pages":"Pages 199-206"},"PeriodicalIF":1.7,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934470","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":"Acknowledgments to Anonymous Reviewers in 2023","authors":"","doi":"10.1016/S0387-7604(24)00011-1","DOIUrl":"https://doi.org/10.1016/S0387-7604(24)00011-1","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 3","pages":"Pages I-II"},"PeriodicalIF":1.7,"publicationDate":"2024-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0387760424000111/pdfft?md5=a425de4811acebb131f238882528c89a&pid=1-s2.0-S0387760424000111-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139749721","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}