Pediatric neurology最新文献_第4页

Clinical Response to Late-Stage Cyclophosphamide in a Child With Refractory N-Methyl-d-Aspartate Receptor Encephalitis 一名难治性 NMDAR 脑炎患儿对晚期环磷酰胺的临床反应

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-27 DOI: 10.1016/j.pediatrneurol.2024.07.012

引用次数: 0

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder RAB11A相关神经发育障碍的队列扩增和基因型-表型分析

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-20 DOI: 10.1016/j.pediatrneurol.2024.07.010

{"title":"Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder","authors":"","doi":"10.1016/j.pediatrneurol.2024.07.010","DOIUrl":"10.1016/j.pediatrneurol.2024.07.010","url":null,"abstract":"<div><h3>Background</h3><p>GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link between <em>RAB11A</em> variants and developmental and epileptic encephalopathy. In this study, we expand the phenotype of <em>RAB11A</em>-associated neurodevelopmental disorder and explore genotype-phenotype correlations.</p></div><div><h3>Methods</h3><p>We assessed 16 patients with pathogenic or likely pathogenic <em>RAB11A</em> variants, generally <em>de novo</em>, heterozygous missense variants. One individual had a homozygous nonsense variant, although concomitant with a pathogenic <em>LAMA2</em> variant, which made their respective contributions to the phenotype difficult to discriminate.</p></div><div><h3>Results</h3><p>We reinforce the finding that certain <em>RAB11A</em> missense variants lead to intellectual disability and developmental delays. Other clinical features might include gait disturbances, hypotonia, magnetic resonance imaging abnormalities, visual anomalies, dysmorphisms, early adrenarche, and obesity. Epilepsy seems to be less common and linked to variants outside the binding sites. Individuals with variants in the binding sites seem to have a more multisystemic, nonepileptic phenotype.</p></div><div><h3>Conclusions</h3><p>Similar to other Rab-related disorders, <em>RAB11A</em>-associated neurodevelopmental disorder can also impact gait, tonus, brain anatomy and physiology, vision, adrenarche, and body weight and structure. Epilepsy seems to affect the minority of patients with variants outside the binding sites.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0887899424002613/pdfft?md5=12ef8cd00d03d472149d57d6339d53d7&pid=1-s2.0-S0887899424002613-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141848373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Isolated Psychiatric Symptoms in Children With Anti-N-Methyl-d Aspartate Receptor Encephalitis 抗NMDA受体脑炎患儿的孤立精神症状

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-17 DOI: 10.1016/j.pediatrneurol.2024.07.009

{"title":"Isolated Psychiatric Symptoms in Children With Anti-N-Methyl-d Aspartate Receptor Encephalitis","authors":"","doi":"10.1016/j.pediatrneurol.2024.07.009","DOIUrl":"10.1016/j.pediatrneurol.2024.07.009","url":null,"abstract":"<div><h3>Background</h3><p>Isolated psychiatric symptoms can be the initial symptom of pediatric anti-<em>N</em>-methyl-d-aspartate (NMDA) receptor autoimmune encephalitis (pNMDARE). Here we report on the prevalence of isolated psychiatric symptoms in pNMDARE. We also assess whether initial neurodiagnostic tests (brain magnetic resonance imaging [MRI], electroencephalography [EEG], and/or cerebrospinal fluid [CSF] white blood cell count) are abnormal in children with isolated psychiatric symptoms and pNMDARE.</p></div><div><h3>Methods</h3><p>This multicenter retrospective cohort study from CONNECT (Conquering Neuroinflammation and Epilepsies Consortium) from 14 institutions included children under age 18 years who were diagnosed with pNMDARE. Descriptive statistics using means, medians, and comparisons for continuous versus discrete data was performed.</p></div><div><h3>Results</h3><p>Of 249 children included, 12 (5%) had only psychiatric symptoms without other typical clinical features of autoimmune encephalitis at presentation. All but one (11 of 12 = 92%) had at least one abnormal finding on initial ancillary testing: eight of 12 (67%) had an abnormal EEG, six of 12 (50%) had an abnormal MRI, and five of 12 (42%) demonstrated CSF pleocytosis. The single patient with a normal MRI, EEG, and CSF profile had low positive CSF NMDA antibody (titer of 1:1), and symptoms improved without immunotherapy.</p></div><div><h3>Conclusions</h3><p>Isolated first-episode psychiatric symptoms in pNMDARE are uncommon, and the majority of children will exhibit additional neurodiagnostic abnormalities. Delaying immunotherapy in a child with isolated psychiatric symptoms and normal neurodiagnostic testing may be warranted while awaiting confirmatory antibody testing.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141843740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Incidence of Hearing Loss in Patients With Neurofibromatosis Type 1 at a Tertiary Care Pediatric Hospital 一家三级儿科医院 1 型神经纤维瘤病患者的听力损失发生率

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-16 DOI: 10.1016/j.pediatrneurol.2024.07.008

{"title":"Incidence of Hearing Loss in Patients With Neurofibromatosis Type 1 at a Tertiary Care Pediatric Hospital","authors":"","doi":"10.1016/j.pediatrneurol.2024.07.008","DOIUrl":"10.1016/j.pediatrneurol.2024.07.008","url":null,"abstract":"<div><h3>Background</h3><p>Hearing loss has not been thoroughly investigated as a comorbidity in larger cohorts with neurofibromatosis type 1 (NF1).</p></div><div><h3>Methods</h3><p>Available audiometric data were reviewed from patients with NF1 seen at a tertiary pediatric hospital to assess prevalence and risk factors for hearing loss.</p></div><div><h3>Results</h3><p>Of 1172 patients with NF1 seen between 2010 and 2022, 90 had available audiometric data and 48 of 90 patients (53%) had one or more audiogram revealing hearing loss. Those not referred to audiology were presumed to have normal hearing, resulting in a conservative hearing loss estimate of 4% for children and young adults with NF1. Of 90 patients with audiograms, 29 (32%) had conductive loss (CHL), 15 (17%) had sensorineural loss (SNHL), and 3 (3%) had mixed hearing loss. Hearing loss type was undetermined for one patient. For children with CHL, six had permanent CHL secondary to plexiform neurofibroma, 19 CHL were transient due to active middle ear dysfunction, and four CHL cases were indeterminate in etiology. For three children with SNHL or mixed hearing loss, etiology included history of ototoxic chemotherapy and/or family history of SNHL. In the 16 patients with SNHL or mixed hearing loss with more than one audiogram over time, progressive hearing decline was noted in eight of 16, and 26 of 178 hearing thresholds (15%) progressed.</p></div><div><h3>Conclusions</h3><p>Our findings suggest that audiometric evaluations should be considered for at least a subset of children with NF1, given the higher-than-expected rate of hearing loss in patients with NF1 compared with the general population.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0887899424002595/pdfft?md5=277a79c825d41c1def31f5b3c596627e&pid=1-s2.0-S0887899424002595-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141698704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Editorial Board and Masthead 编辑委员会和刊头

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-16 DOI: 10.1016/S0887-8994(24)00241-8

引用次数: 0

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study 拷贝数变异与癫痫：高通量测序时代的最新技术，一项多中心队列研究

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-15 DOI: 10.1016/j.pediatrneurol.2024.07.007

{"title":"Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study","authors":"","doi":"10.1016/j.pediatrneurol.2024.07.007","DOIUrl":"10.1016/j.pediatrneurol.2024.07.007","url":null,"abstract":"<div><h3>Background</h3><p>Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray analysis (CMA) remains an important diagnostic tool for many patients. We aim to explore the role and indications of CMA in epilepsy, given the current genomic advances.</p></div><div><h3>Methods</h3><p>We obtained data from 378 epileptic described patients, who underwent CMA between 2015 and 2021. Different types of syndromic or nonsyndromic epilepsy were represented.</p></div><div><h3>Results</h3><p>After excluding patients who were undertreated or had missing data, we included 250 patients with treated epilepsy and relevant clinical information. These patients mostly had focal epilepsy or developmental and epileptic encephalopathy, with a median start age of 2 years. Ninety percent of the patients had intellectual disability, more than two thirds had normal head size, and 60% had an abnormal magnetic resonance imaging. We also included 10 patients with epilepsy without comorbidities. In our cohort, we identified 35 pathogenic copy number variations (CNVs) explaining epilepsy with nine recurrent CNVs enriched in patients with epilepsy, 12 CNVs related to neurodevelopmental disorder phenotype with possible epilepsy, five CNVs including a gene already known in epilepsy, and nine CNVs based on size combined with <em>de novo</em> occurrence. The diagnosis rate in our study reached 14% (35 of 250) with first-line CMA, as previously reported. Although targeted gene panel sequencing could potentially diagnose some of the reported epilepsy CNVs (34% [12 of 35]).</p></div><div><h3>Conclusions</h3><p>CMA remains a viable option as the first-line genetic test in cases where other genetic tests are not available and as a second-line diagnostic technique if gene panel or exome sequencing yields negative results.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141691364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Electroencephalography Conductive Paste Made From Household Supplies: A Recipe for Resource-Limited Settings 用家庭用品制成的脑电图导电膏：适用于资源有限环境的配方

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-11 DOI: 10.1016/j.pediatrneurol.2024.07.006

引用次数: 0

Integrating Clinical and Neuroimaging Markers to Predict the Onset of Posthemorrhagic Ventricular Dilatation in Preterm Neonates 整合临床和神经影像标记，预测早产新生儿出血性脑室扩张后的发病情况

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-11 DOI: 10.1016/j.pediatrneurol.2024.07.005

{"title":"Integrating Clinical and Neuroimaging Markers to Predict the Onset of Posthemorrhagic Ventricular Dilatation in Preterm Neonates","authors":"","doi":"10.1016/j.pediatrneurol.2024.07.005","DOIUrl":"10.1016/j.pediatrneurol.2024.07.005","url":null,"abstract":"<div><h3>Background</h3><p>Posthemorrhagic ventricular dilatation (PHVD) is a major complication of intraventricular hemorrhage (IVH); it is associated with high risks of cerebral palsy and cognitive deficits compared with infants without PHVD. This study aims to explore the early perinatal risk factors-associated with the risk of progressive PHVD.</p></div><div><h3>Methods</h3><p>Neonates ≤29 weeks gestational age (GA) with Grade II-III IVH and periventricular hemorrhagic infarct (PVHI) between 2015 and 2021 were retrospectively reviewed. All cranial ultrasounds done within 14 days postnatal age (PNA) were assessed for grade of IVH, anterior horn width (AHW), ventricular index (VI), and thalamo-occipital index (TOD). The outcome was defined as death of any cause or VI and/or AHW and/or TOD ≥ moderate-risk zone based on an ultrasound done beyond two weeks PNA.</p></div><div><h3>Results</h3><p>A total of 146 infants with a mean GA of 26 ± 1.8 weeks, birth weight 900 ± 234 g were included, 46% were females. The primary outcome occurred in 56 (39%) infants; among them 17 (30%) and 11 (20%) needed ventricular reservoir and shunt insertion, respectively. The risk factors present within 14 days PNA that significantly increased the odds of developing PHVD were hemodynamically significant patent ductus arteriosus (odds ratio [OR] 6.1, 95% confidence interval [CI] 1.9 to 22), culture-proven sepsis (OR 5.4, 95% CI 1.8 to 18), Grade III IVH (OR 4.6, 95% CI 1.1 to 22), PVHI (OR 3.0, 95% CI 0.9 to 10), and VI (OR 2.1, 95% CI 1.6 to 2.9).</p></div><div><h3>Conclusions</h3><p>Clinical predictors such as significant ductus arteriosus and bacterial septicemia, along with risk levels of AHW and VI measured with early cranial ultrasounds, are potential predictors of subsequent onset of PHVD.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S088789942400256X/pdfft?md5=80934d85da97829a0969599155a943f0&pid=1-s2.0-S088789942400256X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141708645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anti-Purkinje Cell Cytoplasmic Antibody Type 2-Associated Autoimmune Cerebellar Degeneration in Children: A Different Phenotype From Adults 儿童的抗浦肯野细胞胞浆抗体 2 型相关自身免疫性小脑变性--与成人不同的表型

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-11 DOI: 10.1016/j.pediatrneurol.2024.07.004

{"title":"Anti-Purkinje Cell Cytoplasmic Antibody Type 2-Associated Autoimmune Cerebellar Degeneration in Children: A Different Phenotype From Adults","authors":"","doi":"10.1016/j.pediatrneurol.2024.07.004","DOIUrl":"10.1016/j.pediatrneurol.2024.07.004","url":null,"abstract":"<div><h3>Background</h3><p>Anti-Purkinje cell cytoplasmic antibody type 2 (PCA-2) is associated with various neurological conditions in adults. However, related studies have not been conducted in children. The present study aimed to characterize the clinical features and outcomes of PCA-2-related autoimmune cerebellar degeneration in pediatric patients.</p></div><div><h3>Methods</h3><p>A total of 357 pediatric patients with acute or subacute cerebellar ataxia were recruited for the study from June 2015 to September 2022. Of these, PCA-2 was identified in four patients. Information on the clinical manifestations, patient response to treatment, and outcomes was collected and analyzed.</p></div><div><h3>Results</h3><p>The patient cohort in the present study included two boys and two girls, with the age of onset from six to 12 years. Axial ataxia was the most remarkable symptom observed in the entire patient cohort (four of four), followed by dysmetria in 75% (three of four), dysarthria in 50% (two of four), and nystagmus in 25% (one of four) of patients. Cognitive impairment was present in one patient. Peripheral neuropathy, which is an extracerebellar symptom, was found in two patients. One patient was diagnosed with a pelvic neuroblastoma before the onset of ataxia. The presence of oligoclonal bands was confirmed in the cerebrospinal fluid, and cerebellar atrophy was observed. Immunotherapy, including glucocorticoids and/or intravenous immunoglobulin, was administered to all four patients immediately following diagnosis, and mycophenolate mofetil was administered to three patients. Three patients responded to immunotherapy.</p></div><div><h3>Conclusions</h3><p>In children, PCA2-associated autoimmune cerebellar degeneration is rare, and they show comparatively fewer symptoms than adults. Timely and appropriate immunotherapy is beneficial.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141692860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

General Movements Assessment in Infants with High Birth Weight 高出生体重婴儿的一般运动评估

IF 3.2 3区医学

Pediatric neurology Pub Date : 2024-07-10 DOI: 10.1016/j.pediatrneurol.2024.07.003

{"title":"General Movements Assessment in Infants with High Birth Weight","authors":"","doi":"10.1016/j.pediatrneurol.2024.07.003","DOIUrl":"10.1016/j.pediatrneurol.2024.07.003","url":null,"abstract":"<div><h3>Background</h3><p>High birth weight (HBW) describes fetal birth weight of more than 4000 g. Infants with HBW have a high risk of developing neurological and developmental problems. Until recently, there were no studies in the literature that investigated the quality of spontaneous movements and the integrity of the developing nervous system in infants with HBW. The aims of this study were (1) to describe age-specific detailed early spontaneous movements in infants with HBW and (2) to compare the detailed early spontaneous movements of infants with HBW and normal birth weight (NBW).</p></div><div><h3>Methods</h3><p>Twenty-two infants with HBW (median birth weight = 4190 g) and 22 infants with NBW (median birth weight = 3255 g) were included at 10 to 19 weeks post-term age (median = 13 weeks). All infants were assessed according to General Movement Assessment using three- to five-minute video recordings. Video recordings of each infant were evaluated using Motor Optimality Score for three- to five-month-old infants-Revised score sheet.</p></div><div><h3>Results</h3><p>Motor Optimality Score-Revised (MOS-R) (<em>P</em> < 0.001), observed postural patterns (<em>P</em> < 0.001), and age-adequate movement repertoire (<em>P</em> = 0.005) were significantly lower in the infants with HBW. Infants with HBW had more aberrant (abnormal or absent) fidgety movements (18%) than those with NBW (0%).</p></div><div><h3>Conclusions</h3><p>The results of this study demonstrated that the motor repertoire of infants with HBW tended to decrease more than that of those with NBW. To enable the follow-up of progression as a result of these assessments infants in need should be referred to age-adequate early intervention programs.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141695083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0