Annals of Child Neurology最新文献_第9页

Neurological Symptoms of SARS-CoV-2 Infection in Pediatric Patients 儿童严重急性呼吸系统综合征冠状病毒2型感染的神经系统症状

Annals of Child Neurology Pub Date : 2022-06-23 DOI: 10.26815/acn.2022.00199

Donghwa Yang, Hoon-Chul Kang

{"title":"Neurological Symptoms of SARS-CoV-2 Infection in Pediatric Patients","authors":"Donghwa Yang, Hoon-Chul Kang","doi":"10.26815/acn.2022.00199","DOIUrl":"https://doi.org/10.26815/acn.2022.00199","url":null,"abstract":"Purpose: Coronavirus disease 2019 (COVID-19) causes various neurological symptoms in children, as well as respiratory symptoms, and the number of reported cases is increasing with the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants. This study aimed to investigate the neurological symptoms and incidence in pediatric patients hospitalized with COVID-19. Methods: We retrospectively analyzed the medical records of patients under the age of 18 diagnosed with COVID-19 and admitted to National Health Insurance Service Ilsan Hospital using real-time reverse transcription–polymerase chain reaction from December 2020 to March 2022. We reviewed data on the age of confirmed COVID-19 patients, fever, and respiratory, gastrointes-tinal, and neurological symptoms. We evaluated the chief complaints of hospitalization and classified them as non-neurological or neurological, according to the chief complaints that caused the most discomfort. Results: Among 376 patients, 63 (16.8%) and 313 (83.2%) patients were classified as having neurological and non-neurological symptoms, respectively. The most common neurological symptoms were headache (49, 13.0%), followed by seizures (39, 10.4%), myalgia (24, 6.4%), and diz-ziness (14, 3.7%). Additionally, there were patients with anosmia (nine, 2.4%), ageusia (four, 1.1%), and visual disturbance (two, 0.5%). Of the 39 patients who experienced seizures, 15 (15/39, 51.7%) had no symptoms except fever, and seizures were the only main presenting symptom of SARS-CoV-2 infection. Conclusion: Neurological symptoms are common in pediatric COVID-19 patients. Seizures can be an early symptom of SARS-CoV-2 infection and should not be underestimated during the COVID-19 pandemic. © 2022 Korean Child Neurology Society.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48371433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Rare Case of Anti-Ma2 Antibody-Mediated Autoimmune Encephalomyelitis in Childhood 儿童罕见的抗M2抗体介导的自身免疫性脑脊髓炎病例

Annals of Child Neurology Pub Date : 2022-06-22 DOI: 10.26815/acn.2022.00150

Han-Sol Kim, M. Yum, Min‐Jee Kim, T. Ko

引用次数: 0

Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) 癫痫伴SLC35A2脑体细胞突变的轻度皮质发育畸形伴癫痫少突胶质细胞增生(MOGHE)

Annals of Child Neurology Pub Date : 2022-06-22 DOI: 10.26815/acn.2022.00073

H. Kang, Dong-Seok Kim, Se Hoon Kim, Jeong Ho Lee, A. Ko, S. H. Kim, Joon Soo Lee, H. Kim, Hoon-Chul Kang

{"title":"Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE)","authors":"H. Kang, Dong-Seok Kim, Se Hoon Kim, Jeong Ho Lee, A. Ko, S. H. Kim, Joon Soo Lee, H. Kim, Hoon-Chul Kang","doi":"10.26815/acn.2022.00073","DOIUrl":"https://doi.org/10.26815/acn.2022.00073","url":null,"abstract":"Purpose: This study presents the characteristics of patients with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) with SLC35A2 somatic variants in the brain who underwent epilepsy surgery and showed clinical improvement in seizures. Methods: We collected 10 patients with SLC35A2 somatic mutations in the brain who underwent surgery to treat drug-resistant epilepsy at Severance Children’s Hospital from 2014 to 2019 and retrospectively reviewed their genetic profiles, neuropathologic results, clinical features, pre-operative evaluations, and post-operative outcomes. Results: Six of the 10 patients with SCL35A2 somatic mutations in the brain had Lennox Gastaut syndrome (LGS) evolving from infantile spasms (IS), three had LGS, and one had IS. The median value of variant allele frequencies (VAFs) was 5.7% (1.7% to 5.8%; range, 1.4% to 22.9%). Nonsense mutations were the most common (50%), followed by missense mutations (40%) and a splicing site mutation (10%). Eight patients (80%) had good post-operative outcomes, with freedom from disabling seizures in five (Engel class I) and rare disabling seizures in three (Engel class II). Four of the eight patients who could be assessed for social quotient (SQ) after surgery showed SQ improvements by 12.2±6.4. Although all patients were finally diagnosed with MOGHE, seven (70%) were initially diagnosed with gliosis, two with mild malformation of cortical development, and one with no abnormality. Conclusion: All patients with SCL35A2 brain somatic mutations, even with low VAFs, had refractory epilepsy such as LGS or IS, and were finally diagnosed with MOGHE. This report is the first in Korea to our knowledge.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48637067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Changes in Sleep Patterns in Korean Early Adolescents During Sexual Maturation 韩国早期青少年性成熟期睡眠模式的变化

Annals of Child Neurology Pub Date : 2022-06-22 DOI: 10.26815/acn.2022.00080

Tae-Chul Han, K. Chae, E. Yoo, Mo Kyung Jung, E. K. Ha, M. Han, H. Jee, S. Rhie

{"title":"Changes in Sleep Patterns in Korean Early Adolescents During Sexual Maturation","authors":"Tae-Chul Han, K. Chae, E. Yoo, Mo Kyung Jung, E. K. Ha, M. Han, H. Jee, S. Rhie","doi":"10.26815/acn.2022.00080","DOIUrl":"https://doi.org/10.26815/acn.2022.00080","url":null,"abstract":"Purpose: Teenagers’ sleep patterns show physiological delays influenced by sexual maturation and other external time-related factors. However, Korean adolescents show differences in the onset of pubertal development and have shorter sleep durations than other adolescents world-wide. Therefore, we assessed sleep patterns and sexual maturation in Korean early adolescents to evaluate changes in sleep patterns in relation to sexual maturation in early adolescents with sleep deprivation. Methods: From March to August 2017, we surveyed children aged 10 to 12 years in Seongnam (Seongnam Atopy Project). We evaluated items related to sleep and sexual maturation, assessed sleep duration and sleepiness scale scores, and analyzed the relationships of sleep parameters with sex, height, weight, and sexual maturation rating (SMR). Results: In total, 620 children were included. Sleep duration was 8.63±0.81 hours in boys and 8.40±0.98 hours in girls. Sleep started from PM 11:00±AM 0:47 in boys and PM 11:13±AM 1:06 in girls, and ended at AM 7:38±AM 0:27 in boys and AM 7:34±AM 0:27 in girls. After adjusting for sex and standardized body mass index, bedtime was delayed as the SMR increased (mean delay for each rating increase, 0.251 hours; P =0.001; 95% confidence interval [CI], 0.105 to 0.397). SMR did not influence the wake-up time, although sleep duration decreased as the SMR increased (mean decrease for each rating increase, 0.258 hours; P =0.001; 95% CI, –0.403 to –0.114). The sleepiness scale scores showed no relationship with SMR. Conclusion: Sleep patterns, especially sleep duration and bedtimes, show changes with sexual maturation in adolescents, who are vulnerable to sleep deprivation.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48736456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients 6例ZC4H2相关罕见病患者的变异表型

Annals of Child Neurology Pub Date : 2022-06-22 DOI: 10.26815/acn.2022.00129

J. Ahn, S. Kim, B. Lim, Ki-Joong Kim, J. Chae

{"title":"Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients","authors":"J. Ahn, S. Kim, B. Lim, Ki-Joong Kim, J. Chae","doi":"10.26815/acn.2022.00129","DOIUrl":"https://doi.org/10.26815/acn.2022.00129","url":null,"abstract":"Purpose: Wieacker-Wolff syndrome is a rare disease caused by X-linked zinc finger C4H2-type containing ( ZC4H2 ) mutations. It is characterized by arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), including impairment of central and peripheral synaptic plasticity. Currently, it is named “ ZC4H2 -associated rare disease” (ZARD) due to various clinical features other than AMC and ID. Here, we report six cases of ZARD, and describe their variable clinical phenotypes. Methods: We analyzed the detailed clinical features and genotypes of six patients diagnosed by whole-exome sequencing or a chromosomal microarray. Results: In the four male patients, hemizygous mutations were found (c. 245A>C in two patients, c. 610C>A in one patient, and c.637C>T in one patient), and all variants were identified by Sanger sequencing. In the female patients, a 1.16-Mb deletion in Xq11.2, including ZC4H2 , was identified by chromosomal microarray. All patients had heterogeneous phenotypes with variable sever-ities. Motor delay was observed in all patients, four of whom could not walk independently. Other neurological features included ID, spasticity, and seizures. The craniofacial features included microcephaly, low-set ears, strabismus, ptosis, ocular motor apraxia, a U-shaped upper lip vermilion, short neck, and microretrognathia. The most common musculoskeletal symptoms were multiple arthrogryposis: metacarpophalangeal joint contracture, clubfoot, distal muscle weakness, Achilles tendon contracture, knee flexion contracture, camptodactyly, elbow flexion contracture, and hip subluxation. Conclusion: The ZARD phenotypes were prominent in male patients, and female patients with loss of function showed more severe symptoms. Further research is needed to clarify phenotypic variability in this rare disorder.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48951007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1 与STXBP1致病变异相关的智力残疾无癫痫1例

Annals of Child Neurology Pub Date : 2022-05-25 DOI: 10.26815/acn.2022.00045

Geum-ji Shin, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee

引用次数: 0

Screening Children with Epilepsy for Cognitive Deficits Using the Modified Mini-Mental Scale Examination and the Digit Letter Substitution Test 应用改进的小心理量表和数字字母替代测验筛查癫痫儿童的认知缺陷

Annals of Child Neurology Pub Date : 2022-05-25 DOI: 10.26815/acn.2022.00059

Minakshi Balwani, G. Passi

{"title":"Screening Children with Epilepsy for Cognitive Deficits Using the Modified Mini-Mental Scale Examination and the Digit Letter Substitution Test","authors":"Minakshi Balwani, G. Passi","doi":"10.26815/acn.2022.00059","DOIUrl":"https://doi.org/10.26815/acn.2022.00059","url":null,"abstract":"Purpose: Children with epilepsy commonly have cognitive deficits; however, full-length neuropsychological testing is time- and resource-intensive. Therefore, we evaluated the feasibility of using the modified Mini-Mental Scale Examination (MMSE) and the Digit Letter Substitution Test (DLST) to screen children with epilepsy for cognitive deficits. Methods: This was a prospective case-control study comparing scores on the MMSE and the DLST in children with epilepsy with normal age-matched controls between 8 and 12 years of age. Results: In 35 cases and 36 controls, the cases had significantly lower ( P <0.05) mean scores than the controls. The correlation coefficient between the MMSE and DLST scores was 0.902 ( P <0.001). Children with developmental or speech delays and an epilepsy duration ≥5 years had lower scores than those without the corresponding risk factors. Conclusion: This study demonstrated significantly lower scores on the MMSE and DLST in children with epilepsy than in controls, as well as significantly lower scores in patients with developmental or speech delays and an epilepsy duration ≥5 years.","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47744481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A SERPINC1 Mutation in a Patient with Cerebral Venous Thrombosis and Upper-Extremity Deep Vein Thrombosis 脑静脉血栓形成和上肢深静脉血栓形成患者的SERPINC1突变

Annals of Child Neurology Pub Date : 2022-05-25 DOI: 10.26815/acn.2022.00052

J. Byun, J. Hong

引用次数: 0

SARS-CoV-2 Neurotropism in a 12-Year-Old Filipino Boy with Focal Encephalitis 一名患有局灶性脑炎的12岁菲律宾男孩的严重急性呼吸系统综合征冠状病毒2型嗜神经性

Annals of Child Neurology Pub Date : 2022-05-25 DOI: 10.26815/acn.2022.00087

Anna Dominique Py Castro, M. A. A. Valencia, Jay Ron Padua

引用次数: 1

X-Linked Cerebral Creatine Deficiency Syndrome with Prolonged QT Interval: A Case Report QT间期延长的X连锁脑肌酸缺乏综合征1例

Annals of Child Neurology Pub Date : 2022-05-24 DOI: 10.26815/acn.2022.00031

Hyewon Kim, Ji Kyoung Park, Jeong Eun Lee, K. Lee, B. Lee

引用次数: 0