当前期刊: Brain and Development Go to current issue    加入关注   
显示样式:        排序: IF: - GO 导出
  • Lacosamide for children with paroxysmal kinesigenic dyskinesia.
    Brain Dev. (IF 1.756) Pub Date : 2020-05-16
    Gen Furukawa,Yutaka Negishi,Tomoya Takeuchi,Naoko Ishihara,Akihisa Okumura

    OBJECTIVES This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, proline-rich transmembrane protein 2 (PRRT2) gene variant, clinical features of PKD, dose

  • Neonatal neuron specific enolase, a sensitive biochemical marker of neuronal damage, is increased in preeclampsia: A retrospective cohort study.
    Brain Dev. (IF 1.756) Pub Date : 2020-05-13
    Jiaying Liao,Zuoman Zhang,Weimin Huang,Qitao Huang,Guangliang Bi

    BACKGROUND Preeclampsia leads to chronic intrauterine hypoxia by interfering with placental blood supply. We aimed to investigate whether preeclampsia exposure has an influence on central nervous system of infants, as evaluated by analyzing neonatal serum neuron specific enolase (NSE). METHODS This was a retrospective study including infants born in Nanfang hospital between Jan 2018 and Feb 2019 without

  • Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
    Brain Dev. (IF 1.756) Pub Date : 2020-05-10
    Jamil A Hashmi,Fatima Fadhli,Ahmed Almatrafi,Sibtain Afzal,Khushnooda Ramzan,Holger Thiele,Peter Nürnberg,Sulman Basit

    BACKGROUND Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. METHODS We studied a consanguineous family having three affected individuals with clinical features of severe intellectual

  • Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
    Brain Dev. (IF 1.756) Pub Date : 2020-05-07
    C Paketci,P Edem,S Hiz,E Sonmezler,D Soydemir,G Sarikaya Uzan,Y Oktay,E O'Heir,S Beltran,S Laurie,A Töpf,H Lochmuller,R Horvath,U Yis

    BACKGROUND Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. CASE Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions

  • Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis.
    Brain Dev. (IF 1.756) Pub Date : 2020-05-04
    Ramesh Konanki,Radha Rama Devi Akella,Nalinikanta Panigrahy,Dinesh Kumar Chirla,Smilu Mohanlal,Reena Lankala

    BACKGROUND Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management. CASE REPORTS We present three infants from unrelated families, one with infantile and two with neonatal hyperammonemic encephalopathy, hypoglycaemia, and hyperlactatemia. The underlying cause was

  • Efficacy and safety of intravenous thiamylal in pediatric procedural sedation for magnetic resonance imaging.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-28
    Shinji Irie,Katsuki Hirai,Kyoko Kano,Shuichi Yanabe,Masahiro Migita

    OBJECTIVE To evaluate the efficacy and safety of intravenous (i.v.) thiamylal in pediatric magnetic resonance imaging (MRI) sedation. METHODS Infants and children from 1 month up to 8 years of age who underwent MRI in our hospital between April 2017 and March 2019 were included in this prospective observational study. Initial dose of 2 mg/kg thiamylal was given intravenously; however, additional doses

  • REM-sleep related hypermotor seizures: Video documentation and ictal source imaging.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-24
    Anca Adriana Arbune,Marina Nikanorova,Daniella Terney,Sándor Beniczky

    INTRODUCTION Rapid eye movement (REM) sleep has an inhibitory effect on epileptiform EEG discharges, and seizures occur extremely rarely in REM sleep. CASE STUDY We present the case and video recordings of a 10-year-old boy, with sleep-related hypermotor seizures starting from REM sleep, identified from videoEEG recordings. The semiology comprised intense fear, tachycardia, tachypnea, followed by hypermotor

  • Brainstem auditory pathway function at four months of corrected postnatal age in preterm infants born below 30 week gestation.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-23
    Ze Dong Jiang,Cui Wang,Li Li Ping

    OBJECTIVE Functional status of the brainstem auditory pathway was examined at four months of corrected postnatal age in infants born below 30 week gestation to assess the effect of very or extremely preterm birth on postnatal development of the pathway. METHODS Thirty-four preterm infants born at 24-29 week gestation (GA24-29w) were studied at four months of corrected postnatal age. Normal controls

  • Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-23
    Yasuo Sunaga,Kazuhiro Muramatsu,Kenjirou Kosaki,Kenji Sugai,Takahisa Mizuno,Miyuki Kouno,Masahiko Tashiro

    BACKGROUND A report presenting five heterozygous de novo variants in VAMP2 in unrelated individuals with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features was first published in April 4, 2019. CASE REPORT We report the case of a male child with VAMP2 variant who was delivered at 38 weeks and 4 days without neonatal asphyxia. At 4 months of

  • Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-23
    Mari Wold Henriksen,Hilde Breck,Yngve Sejersted,Trond Diseth,Stephen von Tetzchner,Benedicte Paus,Ola H Skjeldal

    BACKGROUND AND PURPOSE Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations. METHODS All available females

  • Effectiveness of low-dose riboflavin as a prophylactic agent in pediatric migraine.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-23
    Gaku Yamanaka,Shinji Suzuki,Mika Takeshita,Soken Go,Natsumi Morishita,Tomoko Takamatsu,Atsuro Daida,Shinichiro Morichi,Yu Ishida,Shingo Oana,Shonosuke Nara,Masaru Shimura,Shigeo Nishimata,Hisashi Kawashima

    BACKGROUND Riboflavin may prevent migraine episodes; however, there is limited evidence of its effectiveness in pediatric populations. This study investigated the effectiveness of riboflavin and clinical predictors of response in children with migraines. METHODS We retrospectively reviewed data from 68 Japanese children with migraines, of whom 52 also exhibited another type of headache. Patients received

  • Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014-2017.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-22
    Mariko Kasai,Akiko Shibata,Ai Hoshino,Yoshihiro Maegaki,Hideo Yamanouchi,Jun-Ichi Takanashi,Takanori Yamagata,Hiroshi Sakuma,Akihisa Okumura,Hiroaki Nagase,Atsushi Ishii,Tomohide Goto,Akira Oka,Masashi Mizuguchi

    BACKGROUND We previously reported the nationwide, epidemiological data of acute encephalopathy in Japan during 2007-2010. Here we conducted the second national survey of acute encephalopathy during 2014-2017, and compared the results between the two studies to elucidate the trends in the seven years' interval as well as the influence of changes in pediatric viral infections and guidelines for acute

  • The association between tic medication therapy and psychiatric comorbidities among patients with Tourette syndrome: A national population-based study in Taiwan
    Brain Dev. (IF 1.756) Pub Date : 2020-02-03
    Chia-Wen Chen; Chang-Wei Hsueh; Chi-Hsiang Chung; Huei-Shyong Wang; Hsiu-Ju Chang; Wu-Chien Chien

    Background Tourette syndrome (TS) is often comorbid with attention deficit hyperactivity disorder, obsessive–compulsive disorder, and depression. Medications are the main treatment for TS. Relationships between TS medication therapy and psychiatric comorbidities remain unclear. This study explored the impacts of TS medication on the risk of psychiatric comorbidities using a nationally representative

  • A short form of gross motor function measure for Fukuyama congenital muscular dystrophy
    Brain Dev. (IF 1.756) Pub Date : 2020-03-04
    Takatoshi Sato; Michiru Adachi; Aya Matsuo; Masaya Zushi; Keisuke Goto; Megumi Hirose; Kumiko Ishiguro; Minobu Shichiji; Terumi Murakami; Tetsuo Ikai; Makiko Osawa; Izumi Kondo; Satoru Nagata; Keiko Ishigaki

    Objectives The objective of this study was to confirm the validity of a short form of gross motor function measure for Fukuyama congenital muscular dystrophy (GMFM for FCMD). Methods This study is a case series and was conducted at the Tokyo Women’s Medical University. Fifteen patients with FCMD were assessed using both the GMFM for FCMD with 68 items, which was created as a motor function measure

  • Perampanel for nonepileptic myoclonus in Angelman syndrome
    Brain Dev. (IF 1.756) Pub Date : 2020-03-10
    Osamu Kawano; Kiyoshi Egawa; Hideaki Shiraishi

    Background Angelman syndrome (AS) is a neurodegenerative disorder caused by functional loss of the maternal ubiquitin-protein ligase 3A gene. Nonepileptic myoclonus, also described as tremulous movement, often occurs during puberty and increases in adulthood. The involuntary movement in AS has not been defined patho-physiologically and the drugs used such as levetiracetam and piracetam are not always

  • Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children
    Brain Dev. (IF 1.756) Pub Date : 2020-03-12
    Hsiu-Fen Lee; Ching-Shiang Chi; Chi-Ren Tsai

    Background The aim of this study was to describe the electroclinical variability of four Taiwanese patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 gene mutations. Methods Demographic data, case histories, clinical seizure patterns, EEG features, neuroimaging findings, ALDH7A1 gene mutations, treatments, and neurodevelopmental outcomes of the four patients were collected and analyzed

  • Vitamin B6 in acute encephalopathy with biphasic seizures and late reduced diffusion
    Brain Dev. (IF 1.756) Pub Date : 2020-02-24
    Tomoyuki Akiyama; Soichiro Toda; Nobusuke Kimura; Yukiko Mogami; Yoshiyuki Hanaoka; Chiho Tokorodani; Tomoshiro Ito; Hiroyuki Miyahara; Yuki Hyodo; Katsuhiro Kobayashi

    Background The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is essential for the biosynthesis of gamma-aminobutyric acid, an inhibitory neurotransmitter

  • Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern
    Brain Dev. (IF 1.756) Pub Date : 2020-02-27
    Giulia Prato; Elisa De Grandis; Maria Margherita Mancardi; Ramona Cordani; Thea Giacomini; Livia Pisciotta; Sara Uccella; Mariasavina Severino; Domenico Tortora; Marco Pavanello; Marta Bertamino; Enrico Verrina; Gianluca Caridi; Maja Di Rocco; Lino Nobili

    Introduction Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropathy and T-cell deficiency. Neurologic manifestations include microcephaly, cognitive impairment, migraine-like headaches and cerebrovascular manifestations

  • Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome
    Brain Dev. (IF 1.756) Pub Date : 2020-02-26
    Hyunji Ahn; Go Hun Seo; Changwon Keum; Sun Hee Heo; Taeho Kim; Jeongmin Choi; Mi-Sun Yum; Beom Hee Lee

    Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characterized by unusual, rapidly progressive developmental regression due to additional pathogenic

  • Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation
    Brain Dev. (IF 1.756) Pub Date : 2020-03-12
    Müge Ayanoğlu; Elif Korgali; Taner Sezer; Halil Ibrahim Aydin; Fatma Müjgan Sönmez

    We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The patient presented with lethargy, hyperthermia, generalized tremor and rigidity with normal serum CK levels. After cessation of risperidone and adding clonezepam to the supportive

  • A trial of lacosamide for benign convulsions with gastroenteritis
    Brain Dev. (IF 1.756) Pub Date : 2020-04-09
    Shingo Numoto; Hirokazu Kurahashi; Hideyuki Iwayama; Akihisa Okumura

    Benign convulsions with gastroenteritis are characterized by a cluster of seizures. Sodium channel blockers are efficacious. We prescribed lacosamide, a new channel blocker, for five patients. Patient age ranged from 17 to 33 months; all five experienced 1–4 generalized convulsions persisting for 30–120 s. One patient exhibited a transient splenial lesion on head magnetic resonance imaging. All received

  • Efficacy of hypothermia therapy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-09
    Madoka Hoshide,Hiroki Yasudo,Hirofumi Inoue,Takeshi Matsushige,Ayumi Sakakibara,Yoshiko Nawata,Ippei Hidaka,Hikaru Kobayashi,Fumitaka Kohno,Takashi Ichiyama,Reiji Hirano,Shunji Hasegawa

    BACKGROUND Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is characterized by biphasic seizures and impaired consciousness. The efficacy of hypothermia/normothermia therapy in patients with AESD has rarely been reported on. METHODS We enrolled 15 patients with AESD admitted to Yamaguchi University Hospital and Yamaguchi-ken Saiseikai Shimonoseki General Hospital between

  • A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent
    Brain Dev. (IF 1.756) Pub Date : 2020-04-03
    Ponghatai Boonsimma; Sirorat Suwannachote; Chureerat Phokaew; Chupong Ittiwut; Kanya Suphapeetiporn; Vorasuk Shotelersuk

    Background GABAA receptors are ligand-gated chloride channels that regulate inhibitory neurotransmission in the central nervous system. Recently, monoallelic de novo mutations in GABRA5 resulting in altered inhibitory synapses were found in three patients with developmental and epileptic encephalopathy. Patient description: We report on a four-year and six-month-old girl with epilepsy and global developmental

  • Association between problematic behaviors and individual/environmental factors in difficult children.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-07
    Go Shimomura,Shinichiro Nagamitsu,Masao Suda,Ryuta Ishii,Kotaro Yuge,Michiko Matsuoka,Kunihisa Shimomura,Toyojiro Matsuishi,Michiko Kurokawa,Zentaro Yamagata,Yushiro Yamashita

    BACKGROUND Difficult children are ones whose behavior deviates from the norm, which manifests as restlessness, violence, and difficulty in separating from the mother. Such problematic behaviors usually exhaust their parents during child rearing. This study aimed to identify individual and environmental factors that influence children's problematic behavior, which could be helpful in supporting parents'

  • Quantitative assessment of fine motor skills in children using magnetic sensors.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-03
    Takashi Enokizono,Tatsuyuki Ohto,Mai Tanaka,Kazushi Maruo,Yuko Sano,Akihiko Kandori,Hidetoshi Takada

    AIM We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together repetitively for 10 s. After attaching coils to the participants' right and left

  • Robot-assisted gait training using a very small-sized Hybrid Assistive Limb® for pediatric cerebral palsy: A case report.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-02
    Mayumi Kuroda,Shogo Nakagawa,Hirotaka Mutsuzaki,Yuki Mataki,Kenichi Yoshikawa,Kazushi Takahashi,Tomohiro Nakayama,Nobuaki Iwasaki

    PURPOSE Gait parameters and gross motor function improve after 12 sessions of small-sized Hybrid Assistive Limb® (S-HAL) training in adult cerebral palsy (CP) patients. However, there are no reports on repetitive robot-assisted gait training using the newly developed very small-sized HAL (2S-HAL). This study aimed to examine the effect of using 2S-HAL on a pediatric CP patient. METHODS The subject

  • Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome.
    Brain Dev. (IF 1.756) Pub Date : 2020-04-01
    Takahiro Tayama,Tatsuo Mori,Aya Goji,Yoshihiro Toda,Shoji Kagami

    BACKGROUND Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory seizure, mental retardation, and behavioral problems. Although there are reports of the effective treatment of patients with antiepileptic drugs (AEDs), no study has reported the effects of lacosamide(LCM) in children with this syndrome. We report a 7-year-old boy with this syndrome whose refractory and

  • Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
    Brain Dev. (IF 1.756) Pub Date : 2020-03-21
    Roberta Battini,Giorgia Olivieri,Roberta Milone,Federica Mazio,Roberta Scalise,Tommaso Verdolotti,Guido Primiano,Orazio Genovese,Eugenio Mercuri,Serenella Servidei

    BACKGROUND Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding and respiratory problems, and cutaneous abnormalities. CASE DESCRIPTION We describe

  • Clinical findings in patients with febrile seizure after 5 years of age: A retrospective study.
    Brain Dev. (IF 1.756) Pub Date : 2020-03-19
    Motoko Ogino,Mitsuru Kashiwagi,Takuya Tanabe,Chizu Oba,Shohei Nomura,Shuichi Shimakawa,Hiroyuki Kidokoro,Jun Natsume,Akihisa Okumura,Hiroshi Tamai,Akira Ashida

    OBJECTIVE Febrile seizures (FSs) typically occur in infants and children between 6 and 60 months of age. Rarely, FS can occur in late childhood (late FS [LFS]; >5 years of age); however, the clinical features of LFS remain unclear. We aimed to clarify the clinical features of LFS. METHODS We retrospectively analyzed data from patients with LFS who visited Hirakata City Hospital between January 2004

  • A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.
    Brain Dev. (IF 1.756) Pub Date : 2020-03-12
    Ayami Ozaki,Masayuki Sasaki,Takuya Hiraide,Noriko Sumitomo,Eri Takeshita,Yuko Shimizu-Motohashi,Akihiko Ishiyama,Takashi Saito,Hirofumi Komaki,Eiji Nakagawa,Noriko Sato,Mitsuko Nakashima,Hirotomo Saitsu

    CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter called bright tree appearance (BTA). In addition to the BTA, high intensity signals were

  • Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
    Brain Dev. (IF 1.756) Pub Date : 2020-03-02
    Ji-Hoon Na,Saeam Shin,Donghwa Yang,Borahm Kim,Heung Dong Kim,Sehee Kim,Joon-Soo Lee,Jong-Rak Choi,Seung-Tae Lee,Hoon-Chul Kang

    BACKGROUND Early-onset developmental and epileptic encephalopathy (DEE) is characterized by repeated seizures beginning within 3 months of birth and severe interictal epileptiform discharge, including burst suppression. This study assessed the utility of targeted gene panel sequencing in the genetic diagnosis of this disease. MATERIALS AND METHODS Targeted gene panel sequencing was performed in 150

Contents have been reproduced by permission of the publishers.