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IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-05-13 DOI: 10.1016/S0387-7604(24)00066-4

引用次数: 0

Cover 封面

IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-05-13 DOI: 10.1016/S0387-7604(24)00067-6

引用次数: 0

Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III Sturge Weber 综合征 III 型患者的神经影像学差异和预后。

IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-05-12 DOI: 10.1016/j.braindev.2024.05.001

Aristides Hadjinicolaou , Aisling Quinlan , Shanshan Liu , Bo Zhang , Masanori Takeoka , Mustafa Sahin , Sanjay P Prabhu , Anna Lecticia Pinto

Objectives

Sturge Weber syndrome (SWS) is a neurovascular condition with an estimated incidence of 1 in 20,000 to 50,000 live births. SWS Types I and II involve cutaneous and ophthalmological findings, with neurological involvement in Type I. SWS Type III is exclusive to brain stigmata. Our study aims to describe the characteristics of brain MRI findings and report neuroradiological features with seizure and cognitive outcomes in patients with SWS Type III.

Methods

This is a retrospective case series examining the clinical, radiological, and cognitive characteristics of patients with SWS Type III referred to the SWS Clinic at Boston Children’s Hospital. We analyzed brain MRI findings based on vascular and parenchymal features. Clinical and cognitive outcomes were based on a validated assessment tool in this population (Neuroscore).

Results

This dedicated case series of patients with Type III SWS from a single center identified ten patients. All patients had classic stigmata indicative of SWS. Two distinct radiological phenotypes were found, one characterized by more pronounced deep venous enlargement, and the other, with more pronounced parenchymal abnormalities. There was heterogeneity in seizure presentation and outcome. Earlier age of onset and seizures predict more severe outcomes, as seen in classic SWS.

Conclusion

We could not find significant divergence in outcomes between patients with differing neuroimaging phenotypes. These results raise the question of whether the two distinct radiological phenotypes found in SWS Type III are reflective of different disease entities, with underlying genetic heterogeneity. These results suggest the need for larger, multi-center natural history studies.

目的：韦伯综合征（Sturge Weber Syndrome，SWS）是一种神经血管疾病，估计发病率为每 2 万至 5 万活产婴儿中就有 1 例。SWS I 型和 II 型涉及皮肤和眼科，I 型涉及神经系统。我们的研究旨在描述 SWS III 型患者脑部 MRI 检查结果的特征，并报告神经放射学特征与癫痫发作和认知结果的关系：这是一项回顾性病例系列研究，考察了转诊至波士顿儿童医院 SWS 诊所的 SWS III 型患者的临床、放射学和认知特征。我们根据血管和实质特征对脑磁共振成像结果进行了分析。临床和认知结果基于该人群的有效评估工具（Neuroscore）：该病例系列专门针对来自一个中心的III型SWS患者，共发现10例患者。所有患者都有SWS的典型症状。发现了两种不同的放射学表型，一种以更明显的深静脉扩张为特征，另一种以更明显的实质异常为特征。癫痫发作表现和预后存在异质性。发病年龄较早和癫痫发作预示着更严重的预后，这在典型的 SWS 中可见一斑：结论：我们没有发现不同神经影像表型患者的预后存在明显差异。这些结果提出了一个问题：在 SWS III 型中发现的两种不同的放射学表型是否反映了不同的疾病实体，以及潜在的遗传异质性。这些结果表明有必要进行更大规模的多中心自然史研究。

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引用次数: 0

Intrauterine twin environment and genetic factors subliminally affecting general movements in preterm infants 宫内双胞胎环境和遗传因素潜移默化地影响早产儿的一般运动。

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2024-05-04 DOI: 10.1016/j.braindev.2024.05.002

Background

Understanding background factors is beneficial for interpreting general movements (GMs). This study examines the factors involved in preterm-writhing GMs by comparing twins and singletons.

Method

The subjects were 107 infants cared for at Oita University. The cohort consisted of very-low-birth-weight infants, including twins with a birth weight < 2000 g. The median gestational age (GA) was 29 weeks 1 day. The subjects consisted of 75 singletons, 32 twins (16 pairs), 20 monochorionic twins (M−twins), and 12 dichorionic twins (D-twins). GMs were scored according to the GMs optimality score (GMOS) and integrated into 6 items: the quality, neck-trunk and space, amplitude-speed, rotation, onset-offset and cramped, and tremulous score at 32–34 weeks, 35–36 weeks, and 37–42 weeks’ GA. A hierarchical cluster analysis was performed using integrated GMOS, and the characteristics of clusters were examined according to clinical backgrounds.

Results

Three clusters were identified. Cluster 1 was characterized by good-quality GMs, cluster 2 by a poor repertoire but optimal space and rotatory components, and cluster 3 by overall poor-quality GMs, respectively. The mean GMOSs were 36.6, 31.8 and 24.3 in clusters 1, 2, and 3, respectively. There were no marked differences in proportions within clusters with respect to sex and twins. Small-for-gestational age (SGA) was significantly more frequent in cluster 3 at 32–34 weeks’ GA than in other clusters. Perinatal brain injury had a significantly lower proportion in cluster 1 and a higher proportion in cluster 3 at 35–36 weeks’ GA and 37–42 weeks’ GA. M−twin pairs tended to belong to the same clusters at 35–36 weeks’ GA.

Conclusion

Preterm writhing GMs are associated with SGA and perinatal brain injury. Cluster matching in M−twins suggests that certain genetic factors may substantially influence GMs.

背景：了解背景因素有利于解释全身运动（GMs）。本研究通过比较双胞胎和单胎婴儿，研究了早产儿一般动作的相关因素：研究对象是大分大学护理的 107 名婴儿。方法：研究对象为大分大学护理的 107 名婴儿，其中包括出生体重结果为极低体重的双胞胎：确定了三个群组。群组 1 的特征分别是高质量的 GM，群组 2 的特征是较差的重奏但有最佳的空间和旋转成分，群组 3 的特征是总体质量较差的 GM。第 1、2 和 3 组的平均 GMOS 分别为 36.6、31.8 和 24.3。群组内的性别和双胞胎比例没有明显差异。与其他群组相比，第 3 群组中 32-34 周胎儿的小于胎龄（SGA）发生率明显更高。围产期脑损伤在第 1 组中的比例明显较低，而在第 3 组中，胎龄在 35-36 周和 37-42 周的比例较高。在35-36周龄时，M-双胎往往属于同一个群组：结论：早产儿蠕动性GM与SGA和围产期脑损伤有关。早产儿扭体与 SGA 和围产期脑损伤有关。M-双胞胎的聚类匹配表明，某些遗传因素可能对早产儿扭体有重大影响。

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引用次数: 0

Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report 青少年癫痫和病情恶化与 CAD 缺乏症有关：病例报告

IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-04-18 DOI: 10.1016/j.braindev.2024.04.001

Sebastián Silva , Mónica Rosas , Benjamín Guerra , Marión Muñoz , Atsushi Fujita , Masamune Sakamoto , Naomichi Matsumoto

Introduction

CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in CAD cause the autosomal recessive developmental and epileptic encephalopathy 50 (MIM #616457) or CAD deficiency presenting with epilepsy, status epilepticus (SE), neurological deterioration and anemia with anisopoikilocytosis. Mortality is around 9% of patients, mainly related to the no use of its specific treatment with uridine. Majority of reported cases have an early onset during infancy, with some few starting later in childhood.

Case report

Here we report a deceased female patient with CAD deficiency whose epilepsy started at 14 years. She showed a rapid neurologic deterioration including cognitive decline, electroencephalographic background slowing which later evolved to a fatal refractory SE and supra and infratentorial atrophy on neuroimaging. Anemia developed after SE onset.

Methods and results

her post-mortem whole exome sequencing identified biallelic missense variants in CAD (NM_004341.5): c.[2944G > A];[5366G > A] p.[(Asp982Asn)];[(Arg1789Gln)]. Our review of twenty-eight reported cases (2015–2023) revealed an epilepsy age onset from neonatal period to 7 years and the SE prevalence of 46 %.

Discussion

With our case, we highlight the relevance of suspecting this treatable condition in older patients and in SE with no evident etiology.

导言CAD（MIM*114010）编码一种大型多功能蛋白质，具有启动和控制嘧啶从头生物合成途径的前三种酶的酶活性。CAD 的双倍拷贝致病变体会导致常染色体隐性发育性和癫痫性脑病 50（MIM #616457）或 CAD 缺乏症，表现为癫痫、癫痫状态（SE）、神经系统恶化和贫血伴无异形血小板增多。患者死亡率约为 9%，主要与未使用尿苷进行特异性治疗有关。大多数报告的病例在婴儿期早期发病，也有少数病例在儿童期晚些时候发病。她的神经系统状况迅速恶化，包括认知能力下降、脑电图背景变慢，后来演变为致命的难治性癫痫，神经影像学检查显示脑室上部和下部萎缩。方法和结果尸检全外显子测序发现了 CAD（NM_004341.5）的双偶缺失变异：c. [2944G > A]; [5366G > A] p. [(Asp982Asn)];[(Arg1789Gln)]。我们对 28 个报告病例（2015-2023 年）进行了回顾，发现癫痫的发病年龄从新生儿期到 7 岁不等，SE 的发病率为 46%。讨论通过我们的病例，我们强调了在老年患者和无明显病因的 SE 中怀疑这种可治疗疾病的相关性。

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引用次数: 0

Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy 自闭症谱系特征儿童或无自闭症谱系特征儿童的前额叶皮层激活在近红外光谱上的发育变化。

IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-03-30 DOI: 10.1016/j.braindev.2024.03.006

Taemi Niimi , Yuji Inaba , Hideo Honda

Background

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.

Subjects and methods

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.

Results

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.

Conclusion

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.

背景：自闭症谱系障碍（ASD）的症状从轻微到严重不等，自闭症特征可能分布于整个人群。然而，具有自闭症特征的儿童在神经发育方面的确切差异仍是未知数：53名智商正常、无社交障碍的健康志愿者（32名男性和21名女性，平均[标准差]年龄：12.9[2.5]岁）根据日本广泛性发育障碍自闭症协会评分量表（PARS）的得分被分为两组。具有或不具有自闭症特征的受试者分别被分为高PARS组（14人）或低PARS组（39人）。在进行语言流利性测试时，通过近红外光谱（NIRS）测定血红蛋白氧浓度（Δ[oxy-Hb]）的变化来估计前额叶皮层的激活情况。首先评估了各组前额叶皮层激活的年龄相关变化。然后，通过双向方差分析分析了年龄（小学年龄或初中/高中年龄）和PARS得分对任务中Δ[oxy-Hb]的影响：结果：我们观察到低PARS组前额叶皮层区域的平均Δ[氧-Hb]与年龄之间存在明显的正相关。低PARS组的平均Δ[氧-Hb]明显高于高PARS组。两组的任务表现结果相当：结论：在 PARS 确定的典型发育儿童中，NIRS 的前额叶皮层激活与年龄呈正相关。在没有自闭症但具有自闭症特征的健康志愿者中，前额叶皮层的激活明显低于正常志愿者。我们的研究结果提供了生物学证据，证明自闭症可能是一种普遍分布的疾病。

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引用次数: 0

Effects of increased physical therapy staffing in the neonatal intensive care unit on oral feeding maturation and neurodevelopment of extremely low birth weight infants 新生儿重症监护室增加物理治疗人员对极低出生体重儿口腔喂养成熟和神经发育的影响。

IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-03-30 DOI: 10.1016/j.braindev.2024.03.005

Yoshinori Morioka , Masayuki Nonogaki , Daiyu Kobayashi , Junji Nishimoto , Shigeru Obayashi

Background

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).

Methods

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).

Results

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.

Conclusions

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.

背景：早期干预能在多大程度上促进新生儿重症监护室（NICU）早产儿的长期功能结果，这仍然是一个争论不休的问题。我们旨在研究增加新生儿重症监护室的物理治疗（PT）专职人员对物理治疗干预的时间变化（开始时间、持续时间）和功能结果（获得完全口腔喂养和哈默史密斯新生儿神经系统检查）的影响：方法：将从一家学术医疗中心回顾性收集的极低出生体重儿分为两个亚组，一个是没有新生儿重症监护室专职护理人员的基线期（N = 48）（非专职组），另一个是有额外专职护理人员的质量改进期（N = 42）（专职组）：与非专职人员组相比，专职人员组的新生儿重症监护室婴儿更早地开始了PT治疗，并且在实现完全口服喂养后，每天增加14分钟的PT治疗时间。专用组婴儿实现全口喂养的时间明显早于非专用组。在哈默史密斯新生儿神经系统检查中，两组婴儿在两个项目（总分和音调）上存在显著差异：结论：增加新生儿重症监护室的专职护理人员有助于更早地进行干预，并延长了每天的护理治疗时间。结论：增加新生儿重症监护室的专职护理人员有利于更早地进行干预，并延长了每天的护理时间。此外，专职护理人员缩短了完全口服喂养的完成时间，并改善了神经系统的发育，可能会带来更好的发育结果。

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引用次数: 0

Cover 封面

IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-03-22 DOI: 10.1016/S0387-7604(24)00051-2

引用次数: 0

Prophylactic antiseizure medications for recurrent status epilepticus in nonsyndromic childhood epilepsy 预防性抗癫痫药物治疗非综合征儿童癫痫的复发性癫痫状态。

IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-03-21 DOI: 10.1016/j.braindev.2024.03.004

Hirokazu Takeuchi , Norimichi Higurashi , Yurika Toga

Purpose

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.

Methods

This retrospective study was conducted at Jikei University Hospital. Patients <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.

Results

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.

Conclusions

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.

目的：癫痫状态（SE）的治疗主要集中于终止正在进行的 SE 发作。然而，目前还缺乏预防 SE 的长期治疗策略。本研究旨在探讨预防性抗癫痫药物（ASMs）对非综合征儿童癫痫的有效性：这项回顾性研究在慈惠大学医院进行。患者结果：研究共对 13 名患者使用了 32 种 ASM。左乙拉西坦（LEV）和氯巴紮（CLB）分别对2/10和5/6的患者有效。其他 ASM 无效。四名患者的主要癫痫病因是围产期脑损伤，CLB对所有患者均有效：本研究表明，CLB 和 LEV 可延长某些非综合征儿童癫痫患者的 SE 间期。CLB可能有益，尤其是对围产期脑损伤患者。

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引用次数: 0

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center 婴儿癫痫痉挛综合征患儿的代谢病因：一家三级儿科神经病学中心的经验。

IF 1.7 4区医学 Q2 Medicine

Brain & Development

Pub Date : 2024-03-16 DOI: 10.1016/j.braindev.2024.03.003

Merve Feyza Yüksel , Neslihan Doğulu , Miraç Yıldırım , Engin Köse , Ömer Bektaş , Fatma Tuba Eminoğlu , Serap Teber

Objective

Infantile epileptic spasm syndrome (IESS), including West syndrome (WS) and infantile spasm (IS), causes a challenging prognosis, particularly when associated with metabolic etiologies.

Methods

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.

Results

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.

Conclusion

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.

目的：婴儿癫痫痉挛综合征（IESS），包括韦斯特综合征（WS）和婴儿痉挛症（IS），其预后极具挑战性，尤其是与代谢病因相关时：本研究在一家三级儿科神经病学中心进行，探讨了10年间112名IESS患儿先天性代谢异常的发病率和临床特征：大多数患者有癫痫发作，主要是屈肌痉挛，发病年龄中位数为5个月。综合临床评估和神经影像学检查显示，结构性获得性病因是最常见的病因。值得注意的是，5.4%的病例被确诊为先天性代谢异常，包括非酮症性高甘氨酸血症、吡哆醇依赖性癫痫、原发性辅酶Q10缺乏症7、先天性糖基化紊乱IIM型、6-丙酮酰四氢生物蝶呤合成酶缺乏症和精氨酸琥珀酸酶缺乏症等六种不同的诊断。该队列中先天性代谢异常的发病率与文献报道的全球变异情况一致。对部分诊断不明确的病例进行了基因检测，包括核型分析和全外显子组测序，发现约50%的病例存在异常。肾上腺皮质激素是最常用的抗癫痫药物：本研究深入探讨了与 IESS 相关的诊断难题，并强调了代谢检查的重要性，尤其是在没有明确病因的病例中。研究结果强调，有必要进一步开展遗传和代谢研究，以提高预后的准确性，并为IESS患儿的潜在治疗方案提供指导，尤其是在近亲结婚率较高的人群中。

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引用次数: 0