Spinal hypomyelination in a child with classic hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC): expanding the neuroradiological spectrum, a case report [0.03%]
Ryo Sugiyama,Shimpei Baba,Risa Kagaya et al.
Ryo Sugiyama et al.
Background: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a progressive hypomyelinating leukodystrophy caused by pathogenic variants in the tubulin beta-4A gene (TUBB4A). Some patients exhibi...
Four-year neurodevelopmental outcomes in infants with symptomatic congenital cytomegalovirus disease treated with oral valganciclovir: A prospective follow-up study in Japan [0.03%]
日本一例出生时患症状性先天性巨细胞病毒感染的婴儿口服缬更昔洛韦治疗后四年的神经发育结局：一项前瞻性随访研究
Yasumasa Kakei,Ichiro Morioka,Takumi Imai et al.
Yasumasa Kakei et al.
Background: Congenital cytomegalovirus (CMV) infection is a leading cause of neurodevelopmental disabilities. Although oral valganciclovir (VGCV) treatment has shown short-term benefits, long-term outcomes beyond 3 years ...
Gait analysis of children with neurodevelopmental disorders using gait profile score [0.03%]
基于步态特征评分的儿童神经发育障碍步态分析研究
Kazushi Takahashi,Masafumi Mizukami,Kenichi Yoshikawa et al.
Kazushi Takahashi et al.
Background: Neurodevelopmental disorders (NDDs) are a group of disorders that become evident early in development. Recently, gait disorders in NDDs have been the focus of increasing attention; however, no unified view has...
Hatice Bektas,Anar Tagiyev,Ceren Gunbey et al.
Hatice Bektas et al.
Objective: Autoimmunity has been associated with epilepsy, either as the cause or consequence of seizures. This study evaluated serum neuronal autoantibodies in pediatric focal epilepsy and assessed the utility of the Ant...
Validity of bioelectrical impedance analysis to estimate body composition in patients with severe motor and intellectual disabilities [0.03%]
生物阻抗分析估算重度运动和智力障碍患者身体组成的准确性
Taiyu Kurima,Yukiyo Shimizu,Yasushi Hada et al.
Taiyu Kurima et al.
Objective: Assessing nutritional status in patients with severe motor and intellectual disabilities (SMID) is essential but challenging. While dual-energy X-ray absorptiometry (DXA) is the standard method for body composi...
Dynamic thalamo-cortical perfusion changes in myoclonic-atonic seizures captured by ictal technetium-99m ethyl cysteinate dimer single-photon emission computed tomography: A case report [0.03%]
动态放射性核素单光子发射计算机断层显像捕捉肌阵挛-失张力发作中丘脑和皮质的血流变化：病例报告
Ryuki Matsuura,Shin-Ichiro Hamano,Azusa Oba et al.
Ryuki Matsuura et al.
Purpose: Ictal and interictal single-photon emission computed tomography (SPECT) has not been used to characterize myoclonic-atonic seizures. However, monitoring changes in cerebral blood flow (CBF) may help determine the...
Cognitive functioning in children with both epilepsy and ADHD: A systematic review and meta-analysis [0.03%]
伴发癫痫注意缺陷多动障碍儿童的认知功能：系统评价和 meta 分析
Steven Wickens,Persephone Gummersall,Trevor Brown
Steven Wickens
There is a well-known bidirectional association between epilepsy and attention deficit hyperactivity disorder (ADHD) in children. The aim of the current systematic review and meta-analysis was to investigate neuropsychological functioning o...
Clinical validation of CD16b as a standardized biomarker for inherited GPI deficiencies [0.03%]
CD16b临床验证作为遗传性糖基磷脂酰肌醇(GPI)缺乏的标准生物标志物
Junpei Tanigawa,Kae Imanishi,Saori Umeshita et al.
Junpei Tanigawa et al.
Objectives: Inherited glycosylphosphatidylinositol (GPI) deficiencies (IGDs) impair the expression of GPI-anchored proteins and produce diverse clinical phenotypes that complicate diagnosis. Since we had previously identi...
Utility of the Rett syndrome behavior questionnaire (RSBQ) for Japanese patients with Rett syndrome: A pilot study [0.03%]
雷特综合征行为问卷(RSBQ)在日本雷特综合征患者中的应用价值：一项初步研究
Miharu Sato,Hayato Yamaki,Go Kawano et al.
Miharu Sato et al.
Background: Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 gene mutations. It mainly affects females and is characterized by age-dependent neurological and behavioral abnormalities. The Rett Syndrome...
The Turkish version of neurological disorders depression inventory epilepsy for youth (NDDI-E-Y); validity and reliability study [0.03%]
神经发育障碍抑郁量表-青年版（NDDI-E-Y）的土耳其版本；有效性和可靠性研究
Seren Aydin,Gökçen Öz Tunçer,Gülbahar Kurt Bayir et al.
Seren Aydin et al.
Introduction: Although depression is one of the most common comorbidities in patients with epilepsy, it is often undiagnosed. The aim of this study was to verify the validity and reliability of the Turkish version of the ...