Child neurology open最新文献_第10页

Extensive Longitudinal Transverse Myelitis Associated With CSF Epstein-Barr Virus Infection: A Case Report. 脑脊液Epstein-Barr病毒感染相关的广泛纵横脊髓炎1例报告

Child neurology open Pub Date : 2021-10-20 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211049958

Pratibha Singhi, Jai Prakash Sharma, Rakchhya Gautam, Raden M Indra, Achmad Rafli

引用次数: 1

Neuropsychological Functioning in Alexander Disease: A Case Series. 亚历山大病的神经心理功能：病例系列

Child neurology open Pub Date : 2021-10-20 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211048614

Alexandra C Kirsch, Dana M McCall, Hadley Lange, Deborah Renaud, Tanya Brown, Michael J Zaccariello

{"title":"Neuropsychological Functioning in Alexander Disease: A Case Series.","authors":"Alexandra C Kirsch, Dana M McCall, Hadley Lange, Deborah Renaud, Tanya Brown, Michael J Zaccariello","doi":"10.1177/2329048X211048614","DOIUrl":"10.1177/2329048X211048614","url":null,"abstract":"Limited information is known about neuropsychological outcomes in Alexander disease, a rare leukodystrophy. Two pediatric cases are summarized. Case 1 (evaluations at 6, 7, 9, and 12 years of age) represents Type I Alexander disease with associated seizures. Case 2 (evaluations at 12, 13, and 16 years of age) represents Type II Alexander disease without additional complications. Case 1 experienced declines in intellectual functioning, visual motor skills, receptive vocabulary, verbal memory, and academic achievement. Case 2 experienced variable neurocognitive change and academic functioning, with average word reading and spelling. Verbal memory also remained intact. Taken together, individuals with Alexander disease may experience cognitive decline to variable degrees. Type I Alexander disease, associated with earlier onset and additional neurological complications, may presage greater cognitive decline than Type II. Due to variability in functioning over time, it is critical to follow individuals across development to make recommendations for educational and treatment planning.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211048614"},"PeriodicalIF":0.0,"publicationDate":"2021-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/80/fb/10.1177_2329048X211048614.PMC8532242.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39553877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Remote Assessment of Pediatric Patients with Daytime Sleepiness and Healthy Controls: A Pilot Study of Feasibility and Reliability. 对白天嗜睡的儿科患者和健康对照者进行远程评估：可行性和可靠性试点研究

Child neurology open Pub Date : 2021-10-11 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211048064

Jennifer Worhach, Madeline Boduch, Bo Zhang, Kiran Maski

{"title":"Remote Assessment of Pediatric Patients with Daytime Sleepiness and Healthy Controls: A Pilot Study of Feasibility and Reliability.","authors":"Jennifer Worhach, Madeline Boduch, Bo Zhang, Kiran Maski","doi":"10.1177/2329048X211048064","DOIUrl":"10.1177/2329048X211048064","url":null,"abstract":"We assessed the reliability of cognitive testing for children and adolescents ages 8 to 19 years of age with narcolepsy or subjective daytime sleepiness compared to healthy controls. Forty-six participants took part in the study (n = 18 narcolepsy type 1, n = 6 subjective daytime sleepiness, and n = 22 healthy controls). Participants completed verbal (vocabulary testing) and non-verbal intelligence quotient (IQ) tasks (block design, matrix reasoning) from the Wechsler Abbreviated Scale of Intelligence- Second Edition (WASI-II) in-person or remotely through a HIPAA compliant telehealth platform with conditions counterbalanced. We found that vocabulary T-scores showed good reliability with intraclass correlation coefficient (ICC) of 0.76 (95% CI: 0.64, 0.85) between remote and in-person testing conditions. Matrix Reasoning T-scores showed moderate reliability (ICC 0.69, 95% CI: 0.68, 0.90) and Block Design T-scores was poor between testing conditions. Overall, the results of this pilot study support the feasibility and reliability of verbal and non-verbal IQ scores collected by telehealth.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211048064"},"PeriodicalIF":0.0,"publicationDate":"2021-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/61/0a/10.1177_2329048X211048064.PMC8512221.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39527176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review. 新型HSD17B4变异导致儿童进行性脑白质营养不良:病例报告和文献回顾

Child neurology open Pub Date : 2021-10-11 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211048613

Akiyo Yamamoto, Shinobu Fukumura, Yumi Habata, Sachiko Miyamoto, Mitsuko Nakashima, Shigeo Takashima, Yukihiko Kawasaki, Nobuyuki Shimozawa, Hirotomo Saitsu

{"title":"Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.","authors":"Akiyo Yamamoto, Shinobu Fukumura, Yumi Habata, Sachiko Miyamoto, Mitsuko Nakashima, Shigeo Takashima, Yukihiko Kawasaki, Nobuyuki Shimozawa, Hirotomo Saitsu","doi":"10.1177/2329048X211048613","DOIUrl":"https://doi.org/10.1177/2329048X211048613","url":null,"abstract":"D-bifunctional protein (DBP) deficiency is a peroxisomal disorder with a high degree of phenotypic heterogeneity. Some patients with DBP deficiency develop progressive leukodystrophy in childhood. We report a 6-year-old boy with moderate hearing loss who presented with developmental regression. Brain magnetic resonance imaging demonstrated progressive leukodystrophy. However, very long chain fatty acids (VLCFAs) in the plasma were at normal levels. Whole-exome sequencing revealed compound heterozygous variants in HSD17B4 (NM_000414.3:c.[350A > T];[394C > T], p.[[Asp117Val]];[[Arg132Trp]]). The c.394C > T variant has been identified in patients with DBP deficiency and is classified as likely pathogenic, while the c.350A > T variant was novel and classified as uncertain significance. Although one of the two variants was classified as uncertain significance, an accumulation of phytanic and pristanic acids was identified in the patient, confirming type III DBP deficiency. DBP deficiency should be considered as a diagnosis in children with progressive leukodystrophy and hearing loss even if VLCFAs are within normal levels.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211048613"},"PeriodicalIF":0.0,"publicationDate":"2021-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/24/39/10.1177_2329048X211048613.PMC8512218.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39527175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review. Allgrove (aaa)综合征的神经生理特征:病例报告及文献复习。

Child neurology open Pub Date : 2021-10-04 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211031059

Daniel I Weiman, Meredith K Gillespie, Taila Hartley, Matthew Osmond, Yoko Ito, Kym M Boycott, Kristin D Kernohan, Matthew Lines, Hugh J McMillan

{"title":"Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.","authors":"Daniel I Weiman, Meredith K Gillespie, Taila Hartley, Matthew Osmond, Yoko Ito, Kym M Boycott, Kristin D Kernohan, Matthew Lines, Hugh J McMillan","doi":"10.1177/2329048X211031059","DOIUrl":"https://doi.org/10.1177/2329048X211031059","url":null,"abstract":"Allgrove or \"Triple A\" syndrome is characterized by alacrima, achalasia, and adrenocorticotropic hormone-resistant adrenal insufficiency, as well as central and peripheral nervous system involvement. Patients demonstrate heterogeneity with regard to their age of symptom onset, disease severity, and nature of clinical symptoms. Neurophysiological testing has also shown variability ranging from: motor neuron disease with prominent bulbar involvement, motor-predominant neuropathy, or sensorimotor polyneuropathy with axonal or mixed axonal and demyelinating features. We report an 11-year-old boy who presented with neurological symptoms of progressive spasticity and peripheral neuropathy. His neurophysiological testing confirmed a sensorimotor polyneuropathy with axonal and demyelinating features. Exome sequencing identified compound heterozygote variants in the AAAS gene. We summarize the neurophysiological findings in him and 29 other patients with Allgrove syndrome where nerve conduction study findings were available thereby providing a review of the heterogeneity in neurophysiological findings that have been reported in this rare disorder.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211031059"},"PeriodicalIF":0.0,"publicationDate":"2021-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8594529/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39747832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pleasure and Displeasure: Thunderclap Headache in a 13-Year-Old Boy. 快乐与不快乐:一个13岁男孩的雷击性头痛。

Child neurology open Pub Date : 2021-10-04 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211034360

Carlos M Guerrero, Sonal Bhatia

引用次数: 0

Rhabdomyosarcoma in a Patient With Duchenne Muscular Dystrophy: A Possible Association. 杜氏肌营养不良患者横纹肌肉瘤:一种可能的关联。

Child neurology open Pub Date : 2021-10-04 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211041471

Erika Chandler, Lauren Rawson, Robert Debski, Kerry McGowan, Arpita Lakhotia

引用次数: 3

Early Identification of DMD in the Setting of West Syndrome. 在韦斯特综合征的背景下早期识别 DMD。

Child neurology open Pub Date : 2021-09-27 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211036546

Ahmed Razeq, Samiya Ahmad

引用次数: 0

Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler. 生酮饮食在 Glut 1 缺乏症的整个生命周期中的应用：从怀孕到新生儿再到学龄前儿童。

Child neurology open Pub Date : 2021-09-13 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211034655

Jennifer Kramer, Lisa Smith

引用次数: 0

Validating Coding for the Identification of Pediatric Treatment Resistant Epilepsy Patients. 儿童抗治疗癫痫患者识别的验证编码。

Child neurology open Pub Date : 2021-08-31 eCollection Date: 2021-01-01 DOI: 10.1177/2329048X211037806

Daniel A Freedman, Zachary Grinspan, Peter Glynn, Jackson Mittlesteadt, Alex Dawes, Anup D Patel

{"title":"Validating Coding for the Identification of Pediatric Treatment Resistant Epilepsy Patients.","authors":"Daniel A Freedman, Zachary Grinspan, Peter Glynn, Jackson Mittlesteadt, Alex Dawes, Anup D Patel","doi":"10.1177/2329048X211037806","DOIUrl":"10.1177/2329048X211037806","url":null,"abstract":"The International Classification of Diseases (ICD) system includes sub codes to indicate that an individual with epilepsy is treatment resistant. These codes would be a valuable tool to identify individuals for quality improvement and population health, as well as for recruitment into clinical trials. However, the accuracy of these codes is unclear. We performed a single center cross sectional study to understand the accuracy of ICD codes for treatment resistant epilepsy. We identified 344 individuals, roughly half with treatment resistant epilepsy The ICD code had a sensitivity of 90% (147 of 164) and specificity of 86% (155 of 180). The miscoding of children with refractory epilepsy was attributed to the following reasons: 5 patients had epilepsy surgery, 4 had absence epilepsy, 4 patients were seen by different providers, and 1 patient was most recently seen in movement disorders clinic. ICD codes accurately identify children with treatment resistant epilepsy.","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"8 ","pages":"2329048X211037806"},"PeriodicalIF":0.0,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/13/db/10.1177_2329048X211037806.PMC8424723.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39410254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2