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  • The effect of different dietary structure on gastrointestinal dysfunction in children with cerebral palsy and epilepsy based on gut microbiota
    Brain Dev. (IF 1.504) Pub Date : 2020-10-16
    Congfu Huang; Xiuyun Li; Liping Wu; GenFeng Wu; Peiqin Wang; Yuanping Peng; Shuyuan Huang; Zhenyu Yang; Wenkui Dai; Lan Ge; Yansi Lyu; Linlin Wang; Anquan Zhang

    Background Gastrointestinal (GI) difficulties are very common among children with cerebral palsy (CP) and comorbid epilepsy. GI function is influenced by dietary structure on gut microbiota. The aim of this study was to compare gut microbiota differences in two dietary groups of this population and examine whether such differences are related to GI dysfunction. Methods Forty children with CP and epilepsy

    更新日期:2020-10-17
  • Reversible splenial lesion syndrome associated with SARS-CoV-2 infection in two children
    Brain Dev. (IF 1.504) Pub Date : 2020-10-13
    Gonca Bektaş; Nihal Akçay; Kübra Boydağ; Esra Şevketoğlu

    Background Reversible splenial lesion syndrome (RESLES) is characterized by a temporary lesion in the splenium of the corpus callosum, emerging related to encephalitis, seizures, antiepileptic drug withdrawal, or metabolic disturbances. Among RESLES, mild encephalitis/encephalopathy with reversible splenial lesion (MERS) has been defined as a distinct clinicoradiologic syndrome associated with viral

    更新日期:2020-10-13
  • Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome
    Brain Dev. (IF 1.504) Pub Date : 2020-10-12
    Hidetoshi Hagiwara; Hiroshi Matsumoto; Kenji Uematsu; Kiyotaka Zaha; Yujin Sekinaka; Noriko Miyake; Naomichi Matsumoto; Shigeaki Nonoyama

    Background Microcephalic osteodysplastic primordial dwarfism type I (MOPD I, also known as Taybi-Linder syndrome) is a rare genetic disorder associated with severe intrauterine growth retardation, short stature, microcephaly, brain anomalies, stunted limbs, and early mortality. RNU4ATAC, the gene responsible for this disorder, does not encode a protein but instead the U4atac small nuclear RNA (snRNA)

    更新日期:2020-10-13
  • Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
    Brain Dev. (IF 1.504) Pub Date : 2020-10-06
    Emma Tabe Eko Niba; Hisahide Nishio; Yogik Onky Silvana Wijaya; Poh San Lai; Takenori Tozawa; Tomohiro Chiyonobu; Misaki Yamadera; Kentaro Okamoto; Hiroyuki Awano; Yasuhiro Takeshima; Toshio Saito; Masakazu Shinohara

    Background Spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of SMN1 exons 7 and 8. However, exon 8 is retained in some cases, where SMN2 exon 7 recombines with SMN1 exon 8, forming a hybrid SMN gene. It remains unknown how the hybrid SMN gene contribute to the SMA phenotype. Method We analyzed 515 patients with clinical suspicion for SMA. SMN1 exons 7 and 8 deletion

    更新日期:2020-10-07
  • Severe pallid breath-holding spells treated with low-dose theophylline
    Brain Dev. (IF 1.504) Pub Date : 2020-09-26
    Ayami Sato; Yoichiro Oda; Hiroko Asakai

    Background The medical treatment for severe pallid breath-holding spells accompanied with severe bradycardia or transient cardiac arrest is controversial. Although various medications have been reported to be effective, patients treated with pacemaker insertion are not always evaluated for pharmacological therapy beforehand. Case report A 9-month-old boy developed pallid breath-holding spells. At 15 months

    更新日期:2020-09-26
  • A longitudinal cohort study of childhood MMR vaccination and seizure disorder among American children
    Brain Dev. (IF 1.504) Pub Date : 2020-09-25
    David A. Geier; Mark R. Geier

    Background Measles (rubeola) is a highly contagious infectious disease with significant morbidity/mortality. Measles-Mumps-Rubella (MMR) is a live-attenuated vaccine used in the United States (US) to prevent measles. This retrospective longitudinal cohort study evaluated childhood MMR vaccination and the risk of a seizure episode and seizure disorder. Methods The Independent Healthcare Research Database

    更新日期:2020-09-25
  • Do low birth weight infants not see eyes? Face recognition in infancy
    Brain Dev. (IF 1.504) Pub Date : 2020-09-25
    Mayumi Yamamoto; Yukihiko Konishi; Ikuko Kato; Kosuke Koyano; Shinji Nakamura; Tomoko Nishida; Takashi Kusaka

    Background Progress in neonatal medicine has dramatically improved the survival rate of preterm births, but the evidence suggests that these low-birth weight infants (LBWIs) go on to develop pervasive development disorders and attention deficit hyperactivity disorder (ADHD) at greater rates than the general population. Children with neurodevelopmental disorders are known to suffer from deficits in

    更新日期:2020-09-25
  • The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-15
    Sukdong Yoo,Young A Kim,Ju Young Yoon,Go Hun Seo,Changwon Keum,Chong Kun Cheon

    Background Combined oxidative phosphorylation deficiency 35 (COXPD 35) is a very rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the TRIT1 gene on chromosome 1p34. Only six cases of COXPD 35 and six allelic variants of TRIT1 gene mutations have been reported worldwide. Case description: We describe two siblings who presented with similar clinical features

    更新日期:2020-09-16
  • Clinical characteristics of KCNQ2 encephalopathy.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-08
    Hyo Jeong Kim,Donghwa Yang,Se Hee Kim,Dongju Won,Heung Dong Kim,Joon Soo Lee,Jong Rak Choi,Seung-Tae Lee,Hoon-Chul Kang

    Purpose KCNQ2 mutations are associated with benign familial neonatal epilepsy (BFNE) or developmental and epileptic encephalopathy (DEE). In this study, we aimed to delineate the phenotype of KCNQ2 encephalopathy and evaluate the treatment response. Methods Thirteen patients of KCNQ2 encephalopathy were included in the study. Characteristics of KCNQ2 mutations, electroclinical features, clinical course

    更新日期:2020-09-09
  • Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-08
    Adi Porat Rein,Uri Kramer,Moran Hausman Kedem,Aviva Fattal-Valevski,Alexis Mitelpunkt

    Background Most children with Benign epilepsy with centro-temporal spikes (BECTS) undergo remission during late adolescence and do not require treatment. In a small group of patients, the condition may evolve to encephalopathic syndromes including epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), or Landau-Kleffner Syndrome (LKS). Development of prediction models for early

    更新日期:2020-09-09
  • Dominant SCN2A mutation with variable phenotype in two generations.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-04
    Gouri Rao Passi,Shekeeb S Mohammad

    Background SCN2A mutations are some of the commonest causes of neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia. Case report We present a patient with a dominantly inherited SCN2A mutation presenting as episodic ataxia in a boy and episodic hemiplegia in his father. We have briefly reviewed the literature

    更新日期:2020-09-05
  • Bell's palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
    Brain Dev. (IF 1.504) Pub Date : 2020-09-04
    Christos Theophanous,Jonathan Santoro,Reem Itani

    Bell’s palsy is an acute facial paralysis with known association to viral infections. We describe a medically complex 6-year-old male with hyper IgM syndrome who presented with unilateral facial droop and positive SARS-CoV-2 RT-PCR. This is the first reported pediatric case of Bell’s palsy in the setting of SARS-CoV-2 infection.

    更新日期:2020-09-05
  • Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-04
    Yilun Tao,Dong Han,Huiyi Shen,Xiaoze Li

    Background Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive inborn error that affects phenylalanine (Phe) metabolism. It has a complex phenotype with many variants and genotypes among different populations. Shanxi province is a high-prevalence area of PAHD in China. Methods In this study, eighty-nine PAHD patients were subjected to genetic testing using Sanger sequencing, followed

    更新日期:2020-09-05
  • Clinical utility of the FilmArray meningitis/encephalitis panel in children at a tertiary center in South Korea.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-04
    Su Eun Park,Taek Jin Lim,Sang Ook Nam,Chulhun L Chang,Shin Yun Byun,Ara Ko,JuHyun Kong,Jae Wook Cho,Gyu Min Yeon,Yun-Jin Lee

    Background We retrospectively evaluated the pathogens in the cerebrospinal fluid (CSF) of pediatric meningitis/encephalitis (M/E) by FilmArray meningitis/encephalitis panel (FA-MEP), and the characteristics of children showing positive and negative FA-MEP results. Method FA-MEP along with conventional tests (bacterial/viral cultures, and polymerase chain reaction tests) was performed in children who

    更新日期:2020-09-05
  • Epilepsy in Angelman syndrome: A scoping review.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-04
    Debopam Samanta

    Angelman Syndrome (AS) is characterized by severe developmental delays including marked speech impairment, movement abnormalities(ataxia, tremor), and unique behaviors such as frequent laughter and is caused by dysfunctional maternal UBE3A gene (maternal 15q11-13 deletions, maternal specific UBE3A mutation, uniparental disomy, and imprinting defect). Intractable epileptic seizures since early childhood

    更新日期:2020-09-05
  • Initial treatment of seizures in children in an emergency department in rural Japan.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-02
    Anna Shiraki,Masahiro Yasui,Hiroyuki Kidokoro,Shinji Kido,Hideo Ando,Yoshiyuki Takahashi,Jun Natsume

    Objective Although the initial treatment of childhood seizures is important, treatment within an appropriate time window is often difficult in resource-limited areas. This study examined childhood seizure treatment in a rural area in Japan. Methods We retrospectively investigated children presenting to Nakatsugawa Municipal General Hospital emergency department between 2015 and 2018. From the hospital

    更新日期:2020-09-02
  • A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation.
    Brain Dev. (IF 1.504) Pub Date : 2020-09-02
    Yuki Ueda,Takashi Suganuma,Yoko Narumi-Kishimoto,Tadashi Kaname,Tomonobu Sato

    Background Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extremity predominance. These variants are also identified in individuals with severe forms of congenital muscle atrophy representing arthrogryposis multiplex. Case report A girl was born with severe muscle weakness and respiratory distress. A fetal ultrasound had detected polyhydramnios and multiple

    更新日期:2020-09-02
  • Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-30
    Shan-Fu Ou,Che-Sheng Ho,Wang-Tso Lee,Kuang-Lin Lin,Cynthia C Jones,Yuh-Jyh Jong,

    Introduction Spinal muscular atrophy (SMA) is caused by a defect in the survival motor neuron 1 (SMN1) gene. The Cooperative Study of the natural history of SMA Type I in Taiwan is a retrospective, longitudinal, observational study that helps in further understanding SMA disease progression in patients who have not received disease-modifying therapeutic interventions. Methods Case report forms were

    更新日期:2020-08-31
  • Shuffling babies and autism spectrum disorder.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-30
    Yu Okai,Tomohiko Nakata,Kiyokuni Miura,Atsuko Ohno,Rie Wakako,Osamu Takahashi,Yuki Maki,Masaharu Tanaka,Yoko Sakaguchi,Yuji Ito,Hiroyuki Yamamoto,Hiroyuki Kidokoro,Yoshiyuki Takahashi,Jun Natsume

    Background and purpose Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child developmental center. Methods We studied 48 shuffling babies who visited Toyota Municipal

    更新日期:2020-08-31
  • Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-29
    Riyo Ueda,Yoshimi Kaga,Yosuke Kita,Miho Tanaka,Masaki Iwasaki,Eri Takeshita,Yuko Shimizu-Motohashi,Akihiko Ishiyama,Takashi Saito,Eiji Nakagawa,Kenji Sugai,Masayuki Sasaki,Takashi Okada,Masumi Inagaki

    Introduction An alteration in postoperative cognitive function varies according to the patients’ background characteristics, such as etiology, focus, and seizure duration. Accurate prediction and assessment of postoperative cognitive function is difficult in each patient. Adaptive behavior could describe the typical performance of daily activities and represents the ability to translate cognitive potential

    更新日期:2020-08-30
  • Gallbladder cancer with ascites in a child with metachromatic leukodystrophy.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-24
    Kiri Koshu,Takahiro Ikeda,Daisuke Tamura,Kazuhiro Muramatsu,Hitoshi Osaka,Shigeru Ono,Kaori Adachi,Eiji Nanba,Takero Nakajima,Takanori Yamagata

    Introduction Metachromatic leukodystrophy (MLD) refers to leukodystrophy caused by the accumulation of sulfatide from arylsulfatase A (ARSA) gene mutations. Sulfatide also accumulates in various organs, including the peripheral nerves, kidney, and gallbladder. Proliferative changes in the gallbladder have been reported in several patients, while gallbladder cancer is reported in only two adult MLD

    更新日期:2020-08-25
  • A rare infective cause of stroke in an immunocompetent child.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-24
    Juhi Gupta,Biswaroop Chakrabarty,Gagandeep Singh,Sonali Singh,Atin Kumar,Immaculata Xess,Prashant Jauhari,Sheffali Gulati

    Background Infections are a common cause of childhood stroke with variable presentation. The current case describes a rare infective cause of venous and arterial stroke in an immunocompetent girl with management implications. Case description A 12 year old girl, presented with history of fever for 10 days, painful swelling of right eye for 7 days and altered sensorium for 2 days. On examination, she

    更新日期:2020-08-25
  • Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-20
    Masashi Mizuguchi,Takashi Ichiyama,George Imataka,Akihisa Okumura,Tomohide Goto,Hiroshi Sakuma,Jun-Ichi Takanashi,Kei Murayama,Takanori Yamagata,Hideo Yamanouchi,Tokiko Fukuda,Yoshihiro Maegaki

    The cardinal symptom of acute encephalopathy is impairment of consciousness of acute onset during the course of an infectious disease, with duration and severity meeting defined criteria. Acute encephalopathy consists of multiple syndromes such as acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late reduced diffusion and clinically mild encephalitis/encephalopathy

    更新日期:2020-08-20
  • Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-11
    Tibor Kalmár,Zoltán Maróti,Alíz Zimmermann,László Sztriha

    Background The ALDH18A1 gene is located at 10q24.1 and encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), a mitochondrial bifunctional enzyme that catalyzes the first two steps in de novo biosynthesis of proline, ornithine, citrulline, and arginine. ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant and recessive hereditary spastic paraplegia (SPG9A

    更新日期:2020-08-11
  • Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-11
    Hideaki Shiraishi,Kenji Yamada,Kiyoshi Egawa,Mika Ishige,Fumihiro Ochi,Asami Watanabe,Sanae Kawakami,Kazuyo Kuzume,Kenji Watanabe,Koji Sameshima,Kiyotaka Nakamagoe,Akira Tamaoka,Naoko Asahina,Saki Yokoshiki,Keiko Kobayashi,Takashi Miyakoshi,Koji Oba,Toshiyuki Isoe,Hiroshi Hayashi,Seiji Yamaguchi,Norihiro Sato

    Background Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a mitochondrial fatty acid oxidation disorder that causes episodic attacks, such as general fatigue, hypotonia, myalgia, and rhabdomyolysis accompanied by lack of energy. As yet, there are no preventative drugs for these VLCADD-associated metabolic attacks. Patients and methods We conducted an open-label, non-randomized, multi-center

    更新日期:2020-08-11
  • Eight years follow-up of a generalized epilepsy patient with eating-induced late-onset epileptic spasms and atypical absence with myoclonic jerks.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-10
    Xiaoli Wang,Beibei Chen,Lang Jin,Wenjuan Zhang,Yonghong Liu

    Purpose Eating epilepsy was previously known as a kind of focal reflex epilepsy. However, the development of eating-induced multiple generalized seizures and the associated EEG changes were rarely reported. Herein, we present a 13-year-old generalized epilepsy patient with eating-induced generalized seizures since the age of 5. Case presentation The 13-year-old male patient had suffered from late-onset

    更新日期:2020-08-10
  • Administration of nusinersen via paramedian approach for spinal muscular atrophy.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-06
    Hideyuki Iwayama,Norimitsu Wakao,Hirokazu Kurahashi,Norika Kubota,Ayako Hattori,Toshiyuki Kumagai,Akihisa Okumura

    Objective To assess the success rate, procedure time, and adverse events of intrathecal administration of nusinersen via the paramedian approach in adolescents and adults with spinal muscular atrophy (SMA) associated with scoliosis. Methods Seven patients with genetically confirmed SMA (age, 12–40 years) were included. Intrathecal administration of nusinersen was performed via paramedian approach using

    更新日期:2020-08-08
  • Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-07
    Luciana Midori Inuzuka,Lucia Inês Macedo-Souza,Bruno Della-Ripa,Fabiola Paoli Monteiro,Luiza Ramos,João Paulo Kitajima,Eliana Garzon,Fernando Kok

    Introduction KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. Case report We present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene. Discussion Whole exome sequencing identified the missense variant c.725C > A p

    更新日期:2020-08-07
  • Two cases of persistent falcine and occipital sinuses.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-03
    Takehiko Inui,Moriei Shibuya,Takuya Miyabayashi,Ryo Sato,Yukimune Okubo,Wakaba Endo,Noriko Togashi,Yoshihisa Shimanuki,Harushi Mori,Kazuhiro Haginoya

    Background The coexistence of falcine and occipital sinuses is rare and its natural course has not been reported. Case reports Two patients with persistent falcine and occipital sinuses are described. Both patients had straight sinuses. In one, both the transverse and sigmoid sinuses were hypoplastic and the patient had an acquired Chiari I malformation. The other patient had no other venous anomalies

    更新日期:2020-08-04
  • A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
    Brain Dev. (IF 1.504) Pub Date : 2020-08-01
    Tuğçe Aksu Uzunhan,Nafiye Emel Çakar,Serhat Seyhan,Kürşad Aydin

    Background Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is a severe autosomal recessive disease with onset in early infancy. It is characterized by disruption of the energy metabolism, resulting in weakness, neurological

    更新日期:2020-08-01
  • Diagnostic yield of capillary compared to venous glucose in the diagnosis of hypoglycorrhachia in children: A prospective, observational study.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-30
    Juan David Farfán-Albarracín,Cristina Lorena Ramírez-Sierra,Oscar Mauricio Espitia Segura,Sofy Helena Pérez,Hugo Andrés Téllez Prada,María Camila Rueda Rodríguez,Ingrid Lemus Espitia,Ana Maritza Bedoya

    Introduction The ratio of cerebrospinal fluid (CSF) glucose and blood glucose is of major relevance, conducting to the diagnosis of hypoglycorrhachia, which is a sign of neuroinfection, as well as a number of neurological diseases of genetic or neoplastic etiology. Glucose in capillary sample (glucometry) is a low cost, readily available technique, as compared to venous glucose. This study aims to

    更新日期:2020-07-31
  • Low threshold to Vestibular and Oral Sensory stimuli might affect quality of sleep among children with autism spectrum disorder.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-30
    Takuya Kosaka,Masao Kawatani,Genrei Ohta,Yoshifumi Mizuno,Shinichiro Takiguchi,Asami Kumano,Hisako Hayashi,Akio Fujine,Akemi Tsuda,Takashi X Fujisawa,Akemi Tomoda,Yusei Ohshima

    Aims The current study aimed to validate the relationship between sensory characteristics and sleep dynamics among children with autism spectrum disorder (ASD) using an actigraph, which is an objective assessment device used for sleep monitoring. Methods A total of 40 children (age range, 3–6 years) participated in this study (n = 20, with ASD and n = 20, age-matched children with typical development

    更新日期:2020-07-31
  • Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-31
    Snehal Shah,Najm Khan,Rahul Lakshmanan,Barry Lewis,Lakshmi Nagarajan

    Biotinidase deficiency disorder is a rare inherited metabolic disorder with typical neurological manifestations of hypotonia, developmental delay, rashes, seizures, hearing and vision impairment. We present two cases with different and unusual clinical profiles, whose neuroimaging resembled Neuromyelitis Optica Spectrum Disorder. Case 1 was initially treated with immunomodulation with steroids and

    更新日期:2020-07-31
  • Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-30
    Jun Natsume,Naoko Ishihara,Yoshiteru Azuma,Tomohiko Nakata,Tomoya Takeuchi,Masaharu Tanaka,Yoko Sakaguchi,Yu Okai,Yuji Ito,Hiroyuki Yamamoto,Atsuko Ohno,Hiroyuki Kidokoro,Ayako Hattori,Shin Nabatame,Katsuhiko Kato

    Purpose To establish an objective method of [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET) that can assist in the diagnosis of glucose transporter 1 deficiency syndrome (GLUT1-DS). Methods FDG-PET was performed in 8 patients with a mean age of 12.5 years (range, 2–22 years) with GLUT1-DS. Their PET findings were compared with those of 45 controls with a mean age of 11.2 years (range

    更新日期:2020-07-30
  • Efficacy of perampanel for epileptic seizures and daily behavior in a patient with Leigh syndrome: A case report.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-29
    Shuhei Kimura,Hideaki Shiraishi,Kiyoshi Egawa,Masaya Uchida,Michihiko Ueno

    Background Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. Case presentation A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diagnosed with LS according to the results of cerebrospinal fluid and high signal intensity

    更新日期:2020-07-30
  • Chaperone therapy for molecular pathology in lysosomal diseases.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-29
    Yoshiyuki Suzuki

    In lysosomal diseases, enzyme deficiency is caused by misfolding of mutant enzyme protein with abnormal steric structure that is expressed by gene mutation. Chaperone therapy is a new molecular therapeutic approach primarily for lysosomal diseases. The misfolded mutant enzyme is digested rapidly or aggregated to induce endoplasmic reticulum stress. As a result, the catalytic activity is lost. The following

    更新日期:2020-07-29
  • Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-25
    Ryoko Kuwayama,Yasuhiro Suzuki,Masanori Nishikawa,Tomokazu Kimizu,Ken Nakajima,Tae Ikeda,Yukiko Mogami,Keiko Yanagihara

    Background Recent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dystrophy (FCMD), characterized by congenital muscular dystrophy and brain malformation. Previous studies reported that more than half of patients exhibit seizures in childhood. However, little is known about epilepsy after childhood. Methods To elucidate the long-term clinical

    更新日期:2020-07-26
  • Analysis of factors related to low health-related quality of life in children with epilepsy using a self-assessed Japanese version of the KIDSCREEN-52.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-24
    Yasuko Furuichi,Takafumi Sakakibara,Satoko Nezu,Keigo Saeki,Kenji Obayashi,Norio Kurumatani,Toru Hoshida,Toshiaki Doi,Naoki Miki,Seiji Kinoshita,Midori Shima

    Background There is a paucity of studies on self-assessed generic health-related quality of life (HRQOL) in children with epilepsy. The purpose of this study was to investigate generic HRQOL and associated factors among Japanese children with epilepsy. Methods In this clinic-based study, 277 children (aged 8–18 years) with epilepsy and 429 children without any chronic illnesses were recruited. HRQOL

    更新日期:2020-07-25
  • Neurochemistry of hyponatremic encephalopathy evaluated by MR spectroscopy.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-25
    Yumie Asaki,Yuka Murofushi,Kumi Yasukawa,Mayumi Hara,Jun-Ichi Takanashi

    MR spectroscopy in a patient with hyponatremic encephalopathy due to the syndrome of inappropriate secretion of antidiuretic hormone revealed decreased N-acetyl-aspartate, creatine plus phosphocreatine, choline-containing compounds, and myo-inositol, with normal glutamate and increased glutamine, which normalized after Na normalization. The decreased concentrations of creatine plus phosphocreatine

    更新日期:2020-07-25
  • Cannabidiol-enriched oil in children and adults with treatment-resistant epilepsy-does tolerance exist?
    Brain Dev. (IF 1.504) Pub Date : 2020-07-24
    Shimrit Uliel-Sibony,Moran Hausman-Kedem,Aviva Fattal-Valevski,Uri Kramer

    Aim To evaluate the long-term effectiveness of cannabidiol (CBD)-enriched oil for the treatment of refractory epilepsy and to assess the development of tolerance to its anti-seizure effect. Methods A prospective study of 92 consecutive patients (age 1–37 years, mean-11.8 years) with treatment resistant epilepsy who were treated with cannabis oil extract (CBD/tetrahydrocannabinol [THC] ratio of 20:1)

    更新日期:2020-07-24
  • The changes in the topological properties of brain structural network based on diffusion tensor imaging in pediatric epilepsy patients with vagus nerve stimulators: A graph theoretical analysis.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-24
    Jin Zhu,Cuiping Xu,Xi Zhang,Liang Qiao,Xueyuan Wang,Xiaohua Zhang,Xiaoming Yan,Duanyu Ni,Tao Yu,Guojun Zhang,Yongjie Li

    Purpose This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. Methods Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion tensor imaging, graph theory analysis was used to characterize the topological properties

    更新日期:2020-07-24
  • Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-24
    Ji Soo Park,Man Jin Kim,Soo Yeon Kim,Byung Chan Lim,Ki Joong Kim,Moon-Woo Seong,Jin Sook Lee,Jong-Hee Chae

    Background The ACO2 gene encodes mitochondrial aconitase, the enzyme involved in the second step of the tricarboxylic acid cycle, catalyzing the interconversion of citrate into isocitrate. To date, fewer than 20 families harboring ACO2 mutations have been identified since the first report of a neurodegenerative disorder such as infantile cerebellar retinal degeneration in 2012. Subsequently, various

    更新日期:2020-07-24
  • A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-21
    Xiaoli Yi,Xinyu Yuan,Hua Xie,Xiaoli Chen,Yanli Zhu

    Background Agenesis of the corpus callosum (ACC) is a relatively common brain malformation in children with developmental disabilities, caused by mutations in many genes. These genetic causes are characterized by their extreme heterogeneity with more than 300 causative genes identified to date. Case report We describe two new cases from a three-generation family with ACC and a de novo mutation of the

    更新日期:2020-07-21
  • Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-17
    Tomoko Saikusa,Machiko Kawaguchi,Tetsuji Tanioka Tetsu T,Shin Nabatame Shin N,Satoru Takahashi,Kotaro Yuge,Shin-Ichiro Nagamitsu,Tomoyuki Takahashi,Yushiro Yamashita,Yasuyuki Kobayashi,Chisato Hirayama,Tatsuyuki Kakuma,Toyojiro Matsuishi,Masayuki Itoh

    Purpose To investigate walking ability in Japanese patients with Rett syndrome (RTT). Methods Walking ability was assessed in 100 female Japanese patients with RTT using univariate and multivariate analysis in all age groups, and in patients over 10 years of age. We analyzed walking ability and confounding factors including prenatal-perinatal histories, developmental milestones, somatic and head growth

    更新日期:2020-07-17
  • Movement disorders in children with congenital Zika virus syndrome.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-16
    Hélio van der Linden,Laura Silveira-Moriyama,Vanessa van der Linden,André Pessoa,Kette Valente,Jonathan Mink,Alex Paciorkowski

    Background Congenital Zika Virus Syndrome (CZVS) denotes the neurologic and developmental sequelae of congenital infection of the Zika virus. While prior studies have detailed the associated clinical phenotypes, new findings continue to be identified. Abnormal postures and movements have been previously described in children with CZVS, but not in detail. Objective To examine a cohort of infants with

    更新日期:2020-07-16
  • Circulating markers of oxidative stress are associated with a muscle injury in patients with muscular dystrophy Duchenne.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-09
    Tomas Almeida-Becerril,Maricela Rodríguez-Cruz,Juan Raúl Sánchez-González,Marco Antonio Villaldama-Soriano,Salvador Atilano-Miguel,Judith Villa-Morales,Alan Cárdenas-Conejo,René Cárdenas-Vázquez

    Background A small number of studies have confirmed the presence of oxidative damage in patients with Duchenne muscular dystrophy (DMD). Nevertheless, it is unknown if there a relationship of circulating markers of oxidative stress with a muscle injury. Objective We evaluated if oxidative damage and anti-oxidant markers are associated with muscle damage in DMD. Methods This cross-sectional study included

    更新日期:2020-07-10
  • A nationwide survey of bilirubin encephalopathy in preterm infants in Japan.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-10
    Akihisa Okumura,Ichiro Morioka,Hiroshi Arai,Masahiro Hayakawa,Yoshihiro Maruo,Takashi Kusaka,Tetsuya Kunikata,Satoko Kumada

    Objectives To examine the clinical characteristics of bilirubin encephalopathy in preterm infants (pBE) in Japan. Methods We performed a two-step nationwide questionnaire survey. The initial survey determined the number of children with pBE. Using a structured questionnaire, the second survey clarified the clinical manifestations and characteristics of children with pBE, including the perinatal history

    更新日期:2020-07-10
  • Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-09
    Noriko Togashi,Atsushi Fujita,Moriei Shibuya,Saki Uneoka,Takuya Miyabayashi,Ryo Sato,Yukimune Okubo,Wakaba Endo,Takehiko Inui,Kazutaka Jin,Naomichi Matsumoto,Kazuhiro Haginoya

    Background Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants. Case presentation. We report on a long

    更新日期:2020-07-09
  • Personality, emotional and cognitive functions in young adults born preterm.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-09
    Serafina Perrone,Elisa Laschi,Simona Negro,Monica Tei,Daniela Urilli,Giuseppe Buonocore

    Background Survival of preterm very low birthweight infants resulted in high risk for developmental cognitive deficits, poor academic achievement, and behaviour disorders. While numerous studies evaluated the prevalence of neurodevelopmental disability in early childhood, poor literature is available for infants born very low birthweight in adulthood. Materials and methods Fifty-five young adults born

    更新日期:2020-07-09
  • Longitudinal correspondence of epilepsy and scalp EEG fast (40-200 Hz) oscillations in pediatric patients with tuberous sclerosis complex.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-04
    Hiroki Tsuchiya,Fumika Endoh,Tomoyuki Akiyama,Masao Matsuhashi,Katsuhiro Kobayashi

    Introduction Epilepsy associated with tuberous sclerosis complex (TSC) has very complex clinical characteristics. Scalp electroencephalogram (EEG) fast (40–200 Hz) oscillations (FOs) were recently suggested to indicate epilepsy severity. Epileptic FOs may undergo age-dependent longitudinal change in individual patients, however, and the typical pattern of such change is not yet fully clarified. We

    更新日期:2020-07-04
  • Learning difficulties in Japanese schoolchildren with focal epilepsy.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-03
    Mitsuaki Miyazaki,Tomomi Tanaka,Yuichi Adachi,Kazushi Miya

    Background Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy. Methods The study included 13 boys and 17 girls of mean age 9.7 years (standard deviation 2.61; range 6–14 years) with focal epilepsy and a normal

    更新日期:2020-07-03
  • Risk factors of malnutrition in children with severe motor and intellectual disabilities.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-02
    Mari Hasegawa,Kiyotaka Tomiwa,Yukie Higashiyama,Chiharu Kawaguchi,Hajime Kin,Masaru Kubota,Midori Shima,Keiji Nogami

    Background Children with severe motor and intellectual disabilities (SMID) are at a high risk of malnutrition and often require tube feeding to maintain their nutritional status. However, determining their energy requirements is difficult since inadequate dietary intake, severe neurological impairment, respiratory assistance, and cognitive impairment are all factors that affect malnutrition in SMID

    更新日期:2020-07-02
  • Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-01
    Hiroyuki Yamada,Koyo Ohno,Madoka Shiota,Masami Togawa,Yasushi Utsunomiya,Shinjiro Akaboshi,Hirokazu Tsuchie,Takayoshi Okada,Masayosi Oguri,Shigeru Higami,Hisashi Noma,Yoshihiro Maegaki

    Objectives To investigate the prevalence and background of children with medical complexity (CMC) and its secular trend in Japan. Methods CMC were defined as patients under the age of 20 years requiring medical care and devices. The patients were enrolled using the national health insurance claims data of three hospitals and two rehabilitation centers in Tottori Prefecture. The study period was divided

    更新日期:2020-07-01
  • IVIG in childhood primary angiitis of the central nervous system: A case report.
    Brain Dev. (IF 1.504) Pub Date : 2020-07-01
    Hiroya Nishida,Satoko Kumada,Takashi Komori,Keisuke Takai,Harushi Mori,Michiharu Morino,Hiromi Suzuki,Hideaki Mashimo,Kenji Inoue,Atsuko Arisaka,Mitsumasa Fukuda,Yasuhiro Nakata

    Aggressive immunosuppressive therapies have been proposed to treat primary angiitis of the central nervous system (PACNS). Here, we report the first successfully stabilized case of childhood, small-vessel PACNS with intravenous immunoglobulin (IVIG) therapy. A 12-year-old boy was admitted to our hospital complaining of recurrent headaches and upper-left homonymous quadrantanopia, since the age of 11 years

    更新日期:2020-07-01
  • A case of abdominal functional myoclonus analyzed by movement related cortical potentials.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-30
    Ryosuke Urabe,Masaya Kubota

    Background Diagnosis of functional (psychogenic) movement disorders is challenging, causing concern for many clinicians. Here, we describe a case in which MRCP (movement related cortical potentials) was useful for understanding pathophysiology. Case report The patient was a 16-year-old male with history of glycogenosis and Crohn’s disease. He also had a history of possible autism spectrum disorder

    更新日期:2020-06-30
  • Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-27
    Prateek Kumar Panda,Indar Kumar Sharawat,Kriti Joshi,Lesa Dawman,Rishi Bolia

    Background In the last two decades, with the advent of whole-exome and whole-genome sequencing, supplemented with linkage analysis, more than 150 genes responsible for X-linked intellectual disability have been identified. Some genes like NEXMIF remain an enigmatic entity, as often the carrier females show wide phenotypic diversity ranging from completely asymptomatic to severe intellectual disability

    更新日期:2020-06-27
  • Sensory hypersensitivity in Tourette syndrome: A review.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-26
    David Isaacs,Heather Riordan

    Tourette syndrome (TS) is a neurodevelopmental disorder defined by tics, but most patients also experience bothersome sensory phenomena, in the form of premonitory urges and/or sensory hypersensitivity. Whereas premonitory urges are temporally paired with tics, sensory hypersensitivity is a constant, heightened awareness of external and/or internal stimuli. The intensity of sensory hypersensitivity

    更新日期:2020-06-26
  • Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-26
    Betül Kılıç,Yasemin Topçu,Şiar Dursun,İlknur Erol,Merve Hilal Dolu,Haydar Ali Taşdemir,Kürşad Aydın

    Aim To present seven new genetically confirmed cases of biotin–thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described.

    更新日期:2020-06-26
  • A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-25
    Satoru Ikemoto,Shin-Ichiro Hamano,Kenjiro Kikuchi,Reiko Koichihara,Yuko Hirata,Ryuki Matsuura,Takuya Hiraide,Mitsuko Nakashima,Ken Inoue,Kenji Kurosawa,Hirotomo Saitsu

    Introduction Hypomyelinating leukodystrophies (HLDs) are genetically heterogeneous syndromes, presenting abnormalities in myelin development in the central nervous system. Recently, a recurrent de novo mutation in TMEM106B was identified to be responsible for five cases of HLD. We report the first Japanese case of TMEM106B gene mutation. Case Study A 3-year-old patient presented with nystagmus and

    更新日期:2020-06-25
  • Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors.
    Brain Dev. (IF 1.504) Pub Date : 2020-06-24
    Hiroki Hoshino,Kazuko Takayama,Atsushi Ishii,Yukitoshi Takahashi,Hideaki Kanemura

    Background The clinical spectrum of glucose transporter type 1 deficiency syndrome (GLUT1DS) has broadened, with increasing recognition of a milder phenotype. Antibodies targeting the subunits of glutamate receptors (GluRs), including GluN1, GluN2B, and GluD2, have been detected in various neurological disorders. Anti-GluD2 antibodies in particular may be associated with cerebellar symptoms. Case report

    更新日期:2020-06-24
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