Changes in the treatment of pediatric acute encephalopathy in Japan between 2015 and 2021: A national questionnaire-based survey
Although acute encephalopathy (AE) is the most serious disorder associated with a viral infection in childhood and often causes death or neurological sequelae, standard treatments have not been established. In 2016, the Japanese Society of Child Neurology published the “Guidelines for the Diagnosis and Treatment of Acute Encephalopathy in Childhood 2016” (AE GL 2016). We conducted a questionnaire survey to evaluate the status of the treatment of pediatric AE in 2021 and the changes in treatment before and after the publication of the AE GL 2016. (Source: Brain and Development)
Source: Brain and Development - November 26, 2022 Category: Neurology Authors: Yuka Murofushi, Hiroshi Sakuma, Hiroko Tada, Masashi Mizuguchi, Jun-ichi Takanashi Tags: Original article Source Type: research
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
NEUROD2, encoding the neurogenic differentiation factor 2, is essential for neurodevelopment. To date, heterozygous missense variants in this gene have been identified in eight patients (from six unrelated families) with epileptic encephalopathy and developmental delay. (Source: Brain and Development)
Source: Brain and Development - November 26, 2022 Category: Neurology Authors: Davide POLITANO, Simone GANA, Elena PEZZOTTI, Angela BERARDINELLI, Ludovica PASCA, Veronica Carmen BARBERO, Anna PICHIECCHIO, Enza Maria VALENTE, Edoardo ERRICHIELLO Tags: Case Report Source Type: research
Identification of a novel BICRA variant leading to the newly described Coffin –Siris syndrome 12
Pathogenic heterozygous variants in BICRA have recently been identified in patients with SWI/SNF-related intellectual disability (SSRIDD) – Coffin-Siris syndrome 12. So far, only one article reported SSRIDD associated with pathogenic variants in BICRA. (Source: Brain and Development)
Source: Brain and Development - November 24, 2022 Category: Neurology Authors: Greta Asadauskait ė, Aušra Morkūnienė, Algirdas Utkus, Birutė Burnytė Tags: Case Report Source Type: research
Gait performance and dual-task costs in school-aged children with Down syndrome
This cross-sectional observational study aimed to assess gait performance, its correlation with physical functions, and its dual-task costs in children with Down syndrome (DS), to investigate their gait adaptations. (Source: Brain and Development)
Source: Brain and Development - November 21, 2022 Category: Neurology Authors: Yuji Ito, Tadashi Ito, Atsuko Ohno, Tetsuo Kubota, Kaori Tanemura, Sho Narahara, Erina Kataoka, Reina Hyodo, Yuichiro Sugiyama, Tetsuo Hattori, Hiroyuki Kidokoro, Hideshi Sugiura, Koji Noritake, Jun Natsume, Nobuhiko Ochi Tags: Original article Source Type: research
Tendency and risk factors of acute pancreatitis in children with severe motor and intellectual disabilities: A single-center study
This study aimed to determine the clinical characteristics and causes of AP in children with SMID. (Source: Brain and Development)
Source: Brain and Development - November 7, 2022 Category: Neurology Authors: Kento Ohta, Tohru Okanishi, Michiru Sasaki, Tatsuya Kawaguchi, Jun Murakami, Yoshihiro Maegaki Tags: Original article Source Type: research
Neurovisual profile in children affected by Angelman syndrome
Angelman syndrome (AS) is a rare neurogenetic disorder caused by altered expression of the maternal copy of the UBE3A gene. Together with motor, cognitive, and speech impairment, ophthalmological findings including strabismus, and ocular fundus hypopigmentation characterize the clinical phenotype. The aim of this study was to detail the neurovisual profile of children affected by AS and to explore any possible genotype-phenotype correlations. (Source: Brain and Development)
Source: Brain and Development - November 4, 2022 Category: Neurology Authors: Jessica Galli, Erika Loi, Caterina Strobio, Serena Micheletti, Paola Martelli, Lotfi B. Merabet, Nadia Pasini, Francesco Semeraro, Elisa Fazzi, AS Collaborative Group Source Type: research
A pediatric case of autoimmune encephalitis with chronologically moving seizure foci and cortical lesions: A case report
Autoimmune encephalitis (AIE) is a relatively newly described category of immune-mediated diseases involving the central nervous system with a wide spectrum of clinical presentations, ranging from relatively mild or insidious onset of cognitive impairment to more complex forms of encephalopathy with medically refractory seizures. Single or multifocal seizures accompanied by neuropsychiatric symptoms and cognitive or memory impairments are suggestive of clinical features at AIE onset. (Source: Brain and Development)
Source: Brain and Development - November 3, 2022 Category: Neurology Authors: Yuto Arai, Tohru Okanishi, Kensuke Kumasaki, Sotaro Kanai, Yoko Nishimura, Yukitoshi Takahashi, Yoshihiro Maegaki Tags: Case Report Source Type: research
Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2
We report a long-term follow-up in adolescent and adult patients with SMA types 1 and 2. (Source: Brain and Development)
Source: Brain and Development - November 2, 2022 Category: Neurology Authors: Hideyuki Iwayama, Kohei Kawahara, Mizuki Takagi, Shingo Numoto, Yoshiteru Azuma, Hirokazu Kurahashi, Yumiko Yasue, Hiroyuki Kawajiri, Atsushi Yanase, Teruyoshi Ito, Shinya Kimura, Toshiyuki Kumagai, Akihisa Okumura Tags: Original article Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - November 1, 2022 Category: Neurology Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - November 1, 2022 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - November 1, 2022 Category: Neurology Source Type: research
Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus
This study aimed to predict occurrence of acute encephalopathy syndromes (AES) immediately after febrile status epilepticus in children and to explore the usefulness of electroencephalogram (EEG) in the early diagnosis of AES. (Source: Brain and Development)
Source: Brain and Development - October 31, 2022 Category: Neurology Authors: Kenji Uematsu, Hiroshi Matsumoto, Kiyotaka Zaha, Masashi Mizuguchi, Shigeaki Nonoyama Source Type: research
Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates
Bile acid intermediates, 3 α,7α,12α-trihydroxycholestanoic acid (THCA) and 3α,7α-dihydroxycholestanoic acid (DHCA), are metabolized in peroxisomes. Some peroxisomal disorders (PDs), such as Zellweger spectrum disorder (ZSD), show an accumulation of bile acid intermediates. In particular, ABCD3 deficiency and acyl-CoA-oxi dase 2 deficiency are characterized by these metabolite abnormalities. In patients with ZSD, levels of bile acid intermediates can be lowered by a primary bile acid supplementation treatment; therefore, measuring their levels could help evaluate treatment effectiveness. (Source: Brain and Development)
Source: Brain and Development - October 28, 2022 Category: Neurology Authors: Hiroki Kawai, Shigeo Takashima, Akiko Ohba, Kayoko Toyoshi, Kazuo Kubota, Hidenori Ohnishi, Nobuyuki Shimozawa Tags: Original article Source Type: research
Nationwide survey of childhood Guillain-Barr é syndrome, Fisher syndrome, and Bickerstaff brainstem encephalitis in Japan
Guillain-Barr é syndrome (GBS), Fisher syndrome (FS), and Bickerstaff brainstem encephalitis (BBE) are immune-mediated neuropathies presenting with symptoms such as weakness, ophthalmoplegia, ataxia, and consciousness disturbances. Although the epidemiology of GBS and BBE in patients of all ages has been reporte d, childhood data have not been well-investigated. We aimed to determine the clinical features, therapeutics, and prognoses of childhood GBS, FS, and BBE in Japan. (Source: Brain and Development)
Source: Brain and Development - October 26, 2022 Category: Neurology Authors: Katsunori Fujii, Tadashi Shiohama, Tomoko Uchida, Hajime Ikehara, Tomoyuki Fukuhara, Daisuke Sawada, Hiromi Aoyama, Hideki Uchikawa, Shoko Yoshii, Yukie Arahata, Naoki Shimojo, Sonoko Misawa, Satoshi Kuwabara Tags: Original article Source Type: research
Neurological prognostic factors for human herpes virus 6/7-associated acute encephalopathy in children: A single-center study
To identify prognostic factors for severe neurological sequelae and epileptic seizures in children with human herpes virus (HHV) 6/7-associated acute encephalopathy (AE). (Source: Brain and Development)
Source: Brain and Development - October 26, 2022 Category: Neurology Authors: Yoshihiro Watanabe, Mao Odaka, Hirotaka Motoi, Yoshitaka Oyama, Kentaro Shiga, Shuichi Ito Tags: Original article Source Type: research
