Pediatric neurology最新文献_第7页

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10 桥小脑发育不全 10 型的长期病程

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2024-06-06 DOI: 10.1016/j.pediatrneurol.2024.05.017

Serhat Guler MD , Ayca Dilruba Aslanger MD , Turkan Uygur Sahin MD , Alpay Alkan MD , Cengiz Yalcinkaya MD , Sema Saltik MD , Gözde Yesil MD

Background

Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed.

Methods

Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded.

Results

Patients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings.

Conclusions

Progressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.

背景CLP1基因突变导致的小脑发育不全10型（PCH10）以脑结构异常、进行性小头畸形、严重智力和肢体残疾以及痉挛为特征。方法分别对 10 名 PCH10 患者的表型、生长参数、运动功能、发育测试、痉挛评估、功能独立性评估、脑电图（EEG）和脑磁共振成像（MRI）进行监测。结果对患者进行了平均 2.83 年的随访。根据改良阿什沃斯量表（MAS）的数值，上肢的张力明显高于下肢。60%的患者可以无支撑坐起；20%的患者最初可以有支撑坐起，但在随访期间丧失了这种能力。20%的患者无法抓握或坐立。在随访期间，一人实现了支撑坐，一人实现了抱头。只有一名患者能够说几句话。小脑萎缩（10 例中的 2 例）、脑桥发育不全（10 例中的 4 例）、皮质萎缩（10 例中的 7 例）、脑室扩大（10 例中的 10 例）、胼胝体变薄（10 例中的 10 例）、髓鞘发育不全（10 例中的 6 例）和白质信号强度增加（10 例中的 6 例）是观察到的磁共振成像结果。在出现畸形和上肢明显痉挛的情况下，及时发现这些患者至关重要。此外，我们还注意到，表型和神经系统检查结果往往会随着时间的推移而略有变化。

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引用次数: 0

Clinical Experience With Lacosamide as an Adjunct Treatment for Neonatal Seizures: A Retrospective Single-Center Study 使用拉科酰胺辅助治疗新生儿癫痫发作的临床经验：单中心回顾性研究。

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2024-06-05 DOI: 10.1016/j.pediatrneurol.2024.05.019

Nitish Chourasia MD , Jacob Dohmeier BS , JuleLayne Curry BA , Samantha Parkhurst MD , Basangoud Mudigoudar MD , Marianna Rivas-Coppola MD , James Wheless MD

Background

Lacosamide (LCM) is a third-generation antiseizure medication (ASM) currently approved for the treatment of focal seizures in children aged greater than one month. There are limited data on its efficacy in the neonatal age group. We describe our experience with LCM as an adjunct ASM for the treatment of neonatal seizures.

Methods

A retrospective chart review over a five-year period (2018 to 2022) was conducted at Le Bonheur Children's Hospital to identify neonates with electroencephalography (EEG)-proven seizures who were treated with LCM. Data were collected on electroclinical seizure characteristics, underlying etiology, ASMs, treatment response, and any adverse effects.

Results

A total of 15 neonates with EEG-confirmed seizures who were treated with LCM were included. Ten neonates achieved seizure cessation after LCM was added to their ASM regimen consisting of phenobarbital, levetiracetam, or both. No new treatment-related adverse effects were noted.

Conclusions

LCM is effective as an adjunct treatment for neonatal seizures. Randomized controlled studies are needed to establish its effectiveness and adequate dosing regimen in this population.

背景拉科酰胺（LCM）是第三代抗癫痫药物（ASM），目前已被批准用于治疗一个月以上儿童的局灶性癫痫发作。有关它在新生儿中疗效的数据有限。我们介绍了将 LCM 作为辅助 ASM 用于治疗新生儿癫痫发作的经验。方法 Le Bonheur 儿童医院开展了一项为期五年（2018 年至 2022 年）的回顾性病历审查，以确定经脑电图（EEG）证实有癫痫发作并接受 LCM 治疗的新生儿。研究收集了有关癫痫发作的临床电学特征、潜在病因、ASM、治疗反应和任何不良反应的数据。结果共纳入了 15 名接受 LCM 治疗的脑电图证实癫痫发作的新生儿。在苯巴比妥、左乙拉西坦或两种药物组成的 ASM 方案中加入 LCM 后，10 名新生儿的癫痫发作得到了控制。结论 LCM 作为新生儿癫痫发作的辅助治疗手段非常有效。需要进行随机对照研究，以确定其在这一人群中的有效性和适当的给药方案。

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引用次数: 0

Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome 中风和中风样发作：GLUT1 缺乏综合征的复发性表现萨拉-奥利沃托亚

IF 3.2 3区医学 Q1 Medicine

Pediatric neurology

Pub Date : 2024-06-04 DOI: 10.1016/j.pediatrneurol.2024.05.024

Sara Olivotto MD , Anna Freddi MD , Roberto Previtali MD , Alessia Mauri MSc , Cristina Cereda PhD , Ramona De Amicis RD, PhD , Simona Bertoli MD, PhD , Chiara Doneda MD , Pierangelo Veggiotti MD

Background

Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of atypical manifestations. We report on eight patients with Glut1-DS who experienced at least one episode of acute focal neurological deficits.

Methods

We conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases.

Results

Among 42 patients with Glut1-DS, eight individuals aged between six and 38 years presented with an acute onset of neurological disturbances: dysarthria/aphasia, oral dyskinesia, swallowing difficulties, paresthesia, facial palsy, hemi/monoplegia, vomiting, headache, and behavioral disturbances. When performed, magnetic resonance imaging (MRI) revealed signs of venous congestion and hypoperfusion and electroencephalography showed focal contralateral slowing. Deficits were transient in all patients but one. Four patients (50%) were on a ketogenic diet (KD), and two of these patients had lower than usual ketonemia levels during the episode. In two patients, MRI demonstrated the presence of an ischemic brain lesion.

Conclusions

In Glut1-DS, stroke-like episodes are a recurrent manifestation, particularly during early adulthood, and they were reported in 19% of the patients in our cohort. Stroke mimics should be considered a key feature of Glut1-DS, as other paroxysmal disorders. It remains to be established whether a KD can prevent the recurrence of episodes and, if so, at what level of ketosis. Further observations are needed to confirm the correlation between Glut1-DS and ischemic stroke.

背景自从首次描述葡萄糖转运体-1缺乏综合征（Glut1-DS）以来，该病的表型不断扩大，甚至出现了非典型表现。我们报告了 8 名 Glut1-DS 患者，他们至少经历了一次急性局灶性神经功能缺损。结果在42名Glut1-DS患者中，有8名年龄在6至38岁之间的患者出现急性神经障碍：构音障碍/肢体瘫痪、口腔运动障碍、吞咽困难、麻痹、面瘫、半身/单瘫、呕吐、头痛和行为障碍。磁共振成像（MRI）显示有静脉充血和灌注不足的迹象，脑电图显示有局灶性对侧放缓。除一名患者外，其他患者的障碍均为一过性。四名患者（50%）正在进行生酮饮食（KD），其中两名患者在发病期间的酮血症水平低于正常水平。结论在 Glut1-DS 中，中风样发作是一种反复发作的表现，尤其是在成年早期。与其他阵发性疾病一样，中风样发作也应被视为 Glut1-DS 的主要特征。至于酮症酸中毒是否能防止复发，以及如果能防止复发，酮症酸中毒的程度如何，仍有待确定。要证实 Glut1-DS 与缺血性中风之间的相关性，还需要进一步观察。

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引用次数: 0

Beyond the Tailbone: A Family's Journey Through Caudal Regression Syndrome—A Triple Sibship 超越尾骨：一个家庭的尾椎退缩综合症之旅。三胞胎兄弟姐妹

IF 3.2 3区医学 Q1 Medicine

Pediatric neurology

Pub Date : 2024-06-03 DOI: 10.1016/j.pediatrneurol.2024.05.021

Marya Hameed MBBS, EDiR , Muhammad Fazal Hussain Qureshi MBBS

Background

Caudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation.

Results

This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children's health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition.

Conclusion

This case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.

背景尾椎退行综合征（Caudal regression syndrome，CRS）又称尾椎无头畸形（caudal agenesis），是由于早先的胚胎发育异常导致脊髓和椎体尾部发育异常所致。在确定具体诊断时，我们依靠的是骨骼调查、综合症状评估和病史评估。此外，我们还建议通过磁共振成像和基因检测进行进一步检查，以便更深入地了解和确认病情。遗憾的是，由于父母经济拮据，这些先进的诊断方法无法实施。鉴于该综合征的罕见性和现有文献的有限性，我们的报告是一项重大贡献。这标志着我们首次从遗传和家族倾向的角度对 CRS 进行了全面探讨，为这一罕见病症揭开了新的一页。令人震惊的是，每一代患者都较早出现了更严重的表现，这为 CRS 的遗传易感性提供了令人信服的证据。

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引用次数: 0

Seizures in Children With Severe Acute Respiratory Syndrome Coronavirus 2 Infection "感染 SARS-CoV2 的儿童癫痫发作"

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2024-06-03 DOI: 10.1016/j.pediatrneurol.2024.05.023

Begoña de Miguel Lavisier PhD , Miguel Ángel Molina Gutiérrez PhD , Ruth Camila Púa Torrejón MD , María Ángeles García Herrero MD , María Dolores Rodríguez Mesa MD , Marta Furones García MD , Rosario López López PhD , Marta Bueno Barriocanal MD , Paula García Sánchez MD , Jose Antonio Ruíz Domínguez PhD , María de Ceano-Vivas Lacalle MD

Background

Although respiratory symptoms are the most prominent manifestations of coronavirus disease 2019 (COVID-19), severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and especially the omicron variant, may cause neurological manifestations such as seizures. It remains unclear if specific variants of the virus increase the risk of seizures more than others.

Material and Methods

This was a retrospective multicenter study of pediatric (zero to 16 years) patients with COVID-19 who attended five pediatric emergency departments in Madrid, Spain, between March 2020 and July 2022. An analysis of demographics, medical history, and seizure characteristics was conducted. The data obtained were correlated with the incidence of the different strains of SARS-CoV-2 in the Community of Madrid.

Results

A total of 2411 seizures (infectious and noninfectious) were recorded, and 35 of them (1.4%) were positive for SARS-CoV-2. Of those 35 patients, 18 (51.4%) reported a history of previous seizures. The highest percentage of cases occurred when the omicron variant was the most prevalent (28 [80%] vs 7 [20%] before omicron variant). Typical febrile seizures accounted for 52.9% of the cases. No treatment was required in more than half (57.1%) of the cases.

Conclusion

during the emergence of the omicron variant, there has been an increase in the number of COVID-19-associated seizures. These findings highlight the need for SARS-CoV-2 screening in patients with febrile and afebrile seizures, in addition to other microbiological, biochemical, or neuroimaging tests, depending on the patient's age and clinical presentation.

背景虽然呼吸道症状是冠状病毒病2019（COVID-19）最突出的表现，但严重急性呼吸系统综合征冠状病毒2（SARS-CoV-2），尤其是ocmicron变体，可能会导致癫痫发作等神经系统表现。材料与方法这是一项回顾性多中心研究，研究对象是 2020 年 3 月至 2022 年 7 月期间在西班牙马德里五个儿科急诊科就诊的 COVID-19 儿童患者（0 至 16 岁）。研究对人口统计学、病史和癫痫发作特征进行了分析。结果共记录了 2411 例发作（感染性和非感染性），其中 35 例（1.4%）对 SARS-CoV-2 呈阳性反应。在这 35 名患者中，有 18 人（51.4%）称曾有过癫痫发作史。在奥米克龙变异型最流行时，病例比例最高（28 [80%] 对奥米克龙变异型之前的 7 [20%]）。典型的发热性癫痫发作占病例总数的 52.9%。结论：在出现奥米克龙变异体期间，与 COVID-19 相关的癫痫发作数量有所增加。这些发现突出表明，除了根据患者的年龄和临床表现进行其他微生物、生化或神经影像学检查外，还需要对发热和非发热癫痫发作患者进行 SARS-CoV-2 筛查。

{"title":"Seizures in Children With Severe Acute Respiratory Syndrome Coronavirus 2 Infection","authors":"Begoña de Miguel Lavisier PhD , Miguel Ángel Molina Gutiérrez PhD , Ruth Camila Púa Torrejón MD , María Ángeles García Herrero MD , María Dolores Rodríguez Mesa MD , Marta Furones García MD , Rosario López López PhD , Marta Bueno Barriocanal MD , Paula García Sánchez MD , Jose Antonio Ruíz Domínguez PhD , María de Ceano-Vivas Lacalle MD","doi":"10.1016/j.pediatrneurol.2024.05.023","DOIUrl":"10.1016/j.pediatrneurol.2024.05.023","url":null,"abstract":"<div><h3>Background</h3><p>Although respiratory symptoms are the most prominent manifestations of coronavirus disease 2019 (COVID-19), severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and especially the omicron variant, may cause neurological manifestations such as seizures. It remains unclear if specific variants of the virus increase the risk of seizures more than others.</p></div><div><h3>Material and Methods</h3><p>This was a retrospective multicenter study of pediatric (zero to 16 years) patients with COVID-19 who attended five pediatric emergency departments in Madrid, Spain, between March 2020 and July 2022. An analysis of demographics, medical history, and seizure characteristics was conducted. The data obtained were correlated with the incidence of the different strains of SARS-CoV-2 in the Community of Madrid.</p></div><div><h3>Results</h3><p>A total of 2411 seizures (infectious and noninfectious) were recorded, and 35 of them (1.4%) were positive for SARS-CoV-2. Of those 35 patients, 18 (51.4%) reported a history of previous seizures. The highest percentage of cases occurred when the omicron variant was the most prevalent (28 [80%] vs 7 [20%] before omicron variant). Typical febrile seizures accounted for 52.9% of the cases. No treatment was required in more than half (57.1%) of the cases.</p></div><div><h3>Conclusion</h3><p>during the emergence of the omicron variant, there has been an increase in the number of COVID-19-associated seizures. These findings highlight the need for SARS-CoV-2 screening in patients with febrile and afebrile seizures, in addition to other microbiological, biochemical, or neuroimaging tests, depending on the patient's age and clinical presentation.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141274523","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

Editorial-Pediatric Neurology Trainee Award. 编辑-儿科神经病学见习生奖。

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2024-06-01 DOI: 10.1016/j.pediatrneurol.2024.04.014

J Nicholas Brenton, Lauren A Beslow, Francis J DiMario, Jonathan Santoro, Alcy Torres, Yvonne W Wu

引用次数: 0

The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era 婴儿癫痫痉挛综合征基因检测的实用性：下一代测序时代的循序渐进方法

IF 3.2 3区医学 Q1 Medicine

Pediatric neurology

Pub Date : 2024-05-31 DOI: 10.1016/j.pediatrneurol.2024.05.018

Seda Kanmaz MD , Sanem Yılmaz MD , Cemile Büşra Olculu MD , Dilara Ece Toprak MD , Tuğçe Ince MD , Özlem Yılmaz MD , Yavuz Atas MD , Gursel Sen MD , Erdem Şimşek MD , Hepsen Mine Serin MD , Enise Avcı Durmuşalioğlu MD , Esra Işık MD , Tahir Atik MD , Gul Aktan MD , Ozgur Cogulu MD , Sarenur Gokben MD , Ferda Ozkınay MD , Hasan Tekgul MD

Background

To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era.

Methods

The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing). The diagnostic utility of genetic testing was evaluated to compare the early-NGS period (2005 to 2013, n = 183) and the NGS era (2014 to 2021, n = 131).

Results

An ESD was established in 221 of 314 (70.4%) infants with IESS: structural, 40.8%; genetic, 17.2%; metabolic, 8.3%; immune-infectious, 4.1%. The diagnostic yield of genetic testing increased from 8.9% to 41.7% in the cohort during the four follow-up periods. The rate of unknown etiology decreased from 34.9% to 22.1% during the follow-up periods. The genetic ESD was established as 27.4% with genetic testing in the NGS era. The genetic testing in the NGS era increased dramatically in subgroups with unknown and structural etiologies. The diagnostic yields of the epilepsy panels increased from 7.6% to 19.2%. However, the diagnostic yield of whole exome sequencing remained at similar levels during the early-NGS period at 54.5% and in the NGS era at 59%.

Conclusions

The more genetic ESD (27.4%) was defined for IESS in the NGS era with the implication of precision therapy (37.7%).

背景在下一代测序（NGS）时代，采用基于步骤的诊断方法评估基因检测在婴儿癫痫痉挛综合征（IESS）病因特异性诊断（ESD）中的实用性。方法研究队列包括 2005 年至 2021 年间埃格大学医院小儿神经科随访的 314 例 IESS 患者。ESD采用分步法进行评估：第一步（临床现象学）、第二步（神经影像学）、第三步（代谢筛查）和第四步（基因检测）。结果在 314 名（70.4%）患有 IESS 的婴儿中，有 221 名确定了 ESD：结构性占 40.8%；遗传性占 17.2%；代谢性占 8.3%；免疫感染性占 4.1%。在四个随访期内，队列中基因检测的诊断率从 8.9% 上升到 41.7%。在随访期间，病因不明的比例从 34.9% 降至 22.1%。通过 NGS 时代的基因检测，确定遗传性 ESD 为 27.4%。在 NGS 时代，病因不明和结构性病因亚组的基因检测率大幅上升。癫痫面板的诊断率从 7.6% 提高到 19.2%。然而，全外显子组测序的诊断率在早期 NGS 时代为 54.5%，而在 NGS 时代为 59%，两者保持在相似的水平。

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引用次数: 0

Cerebral Palsy Phenotypes in Genetic Epilepsies 遗传性癫痫的脑瘫表型

IF 3.8 3区医学 Q1 Medicine

Pediatric neurology

Pub Date : 2024-05-31 DOI: 10.1016/j.pediatrneurol.2024.05.016

Siddharth Srivastava MD , Hyun Yong Koh MD, PhD , Lacey Smith MS, CGC , Annapurna Poduri MD, MPH

Background

Although there are established connections between genetic epilepsies and neurodevelopmental disorders like intellectual disability, the presence of cerebral palsy (CP) in genetic epilepsies is undercharacterized. We performed a retrospective chart review evaluating the motor phenotype of patients with genetic epilepsies.

Methods

Patients were ascertained through a research exome sequencing study to identify genetic causes of epilepsy. We analyzed data from the first 100 individuals with molecular diagnoses. We determined motor phenotype by reviewing medical records for muscle tone and motor function data. We characterized patients according to CP subtypes: spastic diplegic, spastic quadriplegic, spastic hemiplegic, dyskinetic, hypotonic-ataxic.

Results

Of 100 individuals with genetic epilepsies, 14% had evidence of possible CP, including 5% characterized as hypotonic-ataxic CP, 5% spastic quadriplegic CP, 3% spastic diplegic CP, and 1% hemiplegic CP. Presence of CP did not correlate with seizure onset age (P = 0.63) or seizure control (P = 0.07). CP occurred in 11% (n = 3 of 27) with focal epilepsy, 9% (n = 5 of 54) with generalized epilepsy, and 32% (n = 6 of 19) with combined focal/generalized epilepsy (P = 0.06).

Conclusions

In this retrospective analysis of patients with genetic epilepsies, we identified a substantial portion with CP phenotypes, representing an under-recognized comorbidity. These findings underscore the many neurodevelopmental features associated with neurogenetic conditions, regardless of the feature for which they were ascertained for sequencing. Detailed motor phenotyping is needed to determine the prevalence of CP and its subtypes among genetic epilepsies. These motor phenotypes require clinical management and represent important targeted outcomes in trials for patients with genetic epilepsies.

背景虽然遗传性癫痫与智力障碍等神经发育障碍之间存在着既定的联系，但遗传性癫痫患者中是否存在脑性瘫痪（CP）却没有得到充分的描述。我们进行了一项回顾性病历审查，对遗传性癫痫患者的运动表型进行了评估。我们分析了首批 100 名分子诊断患者的数据。我们通过查看医疗记录中的肌张力和运动功能数据来确定运动表型。结果在 100 名遗传性癫痫患者中，有 14% 的人可能患有 CP，其中 5% 的人患有肌张力低下-共济失调 CP，5% 的人患有痉挛性四肢瘫 CP，3% 的人患有痉挛性二瘫 CP，1% 的人患有偏瘫 CP。CP的存在与癫痫发作年龄（P = 0.63）或癫痫发作控制率（P = 0.07）无关。在这项对遗传性癫痫患者的回顾性分析中，我们发现相当一部分患者具有 CP 表型，这是一种未得到充分认识的合并症。这些发现突显了与神经遗传病相关的许多神经发育特征，无论这些特征是通过测序确定的。要确定 CP 及其亚型在遗传性癫痫中的患病率，需要进行详细的运动表型分析。这些运动表型需要临床治疗，是遗传性癫痫患者试验的重要目标结果。

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引用次数: 0

Sexual Health Education and Quality of Counseling in Pediatric-Onset Multiple Sclerosis 小儿多发性硬化症患者的性健康教育和咨询质量

IF 3.2 3区医学 Q1 Medicine

Pediatric neurology

Pub Date : 2024-05-28 DOI: 10.1016/j.pediatrneurol.2024.05.015

Kelly Burk MD, MPH , Dania Pagarkar MD , Mellad M. Khoshnood MD , Saba Jafarpour MD , Nusrat Ahsan MD , Wendy G. Mitchell MD , Jonathan D. Santoro MD

Background

Disease-modifying therapies (DMTs) have revolutionized the management of multiple sclerosis (MS). Many DMTs have a risk of teratogenic outcomes, which is notable as MS disproportionally affects women of reproductive age and the rates of unplanned pregnancies among persons with MS (PwMS) are as high as 34%. Prior research suggests that patients' culture may influence their perspectives surrounding family planning. Given our institution's patient population, we compared the spectrum of knowledge in Hispanic and non-Hispanic patients with pediatric-onset MS (POMS) regarding DMTs and their associated risks during pregnancy and possible disparities in their treatment and counseling.

Methods

A small cohort of patients with POMS (n = 22) were surveyed on their knowledge and beliefs surrounding family planning and sexual health counseling. Odds ratios and 95% confidence intervals were used to evaluate the association between survey question responses and ethnicity.

Results

No significant differences in beliefs or knowledge regarding sexual health between Hispanic and non-Hispanic participants were identified, but many valuable themes emerged. Internet access and social relationships heavily influence participants’ knowledge surrounding birth control and sexual health. Patients also desired continuous engagement in sexual health counseling.

Conclusions

In this small pilot cohort, cultural views did not significantly influence whether adolescent and young adult patients with POMS seek sexual health resources. Future studies should aim to identify effective interventions for providers to educate PwMS about sexual health and family planning to address the elevated unplanned pregnancy rate in this population and provide the education these patients have vocalized a desire to receive.

背景改变病情疗法（DMT）彻底改变了多发性硬化症（MS）的治疗方法。由于多发性硬化症对育龄妇女的影响尤为严重，而且多发性硬化症患者（PwMS）的计划外怀孕率高达 34%，因此许多 DMTs 都有致畸风险。先前的研究表明，患者的文化可能会影响他们对计划生育的看法。考虑到本机构的患者群体，我们比较了西班牙裔和非西班牙裔儿科发病型多发性硬化症（POMS）患者对 DMTs 及其相关妊娠风险的了解程度，以及在治疗和咨询方面可能存在的差异。结果未发现西班牙裔和非西班牙裔参与者在性健康信念或知识方面存在显著差异，但出现了许多有价值的主题。互联网接入和社会关系在很大程度上影响了参与者对节育和性健康知识的了解。结论在这个小型试点人群中，文化观点并没有对患有 POMS 的青少年患者是否寻求性健康资源产生重大影响。未来的研究应着眼于确定有效的干预措施，让医疗服务提供者对PwMS进行性健康和计划生育教育，以解决这一人群中意外怀孕率升高的问题，并为这些患者提供他们所表达的希望接受的教育。

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引用次数: 0

Electroencephalographic Patterns on Follow-Up Visits in Extremely Premature Infants With Periventricular Leukomalacia: An Observational Study 患有脑室周围白质疏松症的极早产儿随访时的脑电图模式：观察研究。

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology

Pub Date : 2024-05-25 DOI: 10.1016/j.pediatrneurol.2024.05.014

Sammie Lai MD , Jacob Keeley MS , Danielle Nolan MD , Elizabeth Kring NSN, CCRC , Nicole Rickard MS, OTRL , Amanda S. Froling MPT, C/NDT , Rawad Obeid MD

Background

Periventricular leukomalacia (PVL) is a common brain injury in premature infants, and epilepsy remains a significant complication. One concerning electroencephalographic (EEG) pattern found is developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS). This pattern is associated with persistent neuropsychological and motor deficits, even without a diagnosis of epilepsy. The purpose of this study is to identify the relationships between various PVL grades and EEG patterns in this population on follow-up visits, especially the occurrence of DEE-SWAS pattern on EEG.

Methods

This is a retrospective study of <36 weeks gestational age newborns who were followed in the neurodevelopmental clinic at Corewell Health East/Corewell Health Children's Hospital in Royal Oak, Michigan, between 2020 and 2022. Patients' demographics along with prematurity complications, diagnostic head ultrasound (HUS), and EEG studies were reviewed and graded. EEG studies are usually ordered when seizures were suspected.

Results

A total of 155 newborns met the inclusion criteria. Twenty-six patients had PVL. Nine patients had grade 2 to 3 PVL based on HUS review. EEG was performed on 15 patients with PVL at a mean age of 22 months. More severe PVL grades were significantly associated with worse EEG patterns (P = 0.005). Five patients had DEE-SWAS pattern on EEG, all of whom had grade 2 or 3 PVL. Epilepsy was eventually diagnosed in three infants with PVL.

Conclusions

EEG can help identify important abnormal electrographic patterns in premature infants with PVL early in life; this might give a window of opportunity to intervene early and improve long-term developmental outcomes in this population.

背景：脑室周围白斑（PVL）是早产儿常见的脑损伤，而癫痫仍然是一种重要的并发症。一种令人担忧的脑电图（EEG）模式是发育性和/或癫痫性脑病伴睡眠中的尖波激活（DEE-SWAS）。这种模式与持续性神经心理和运动障碍有关，即使没有癫痫诊断也是如此。本研究的目的是在随访中确定该人群中各种 PVL 等级与脑电图模式之间的关系，尤其是脑电图上 DEE-SWAS 模式的发生情况：这是一项回顾性研究：共有 155 名新生儿符合纳入标准。26 名患者患有 PVL。根据 HUS 复查结果，9 名患者的 PVL 为 2 至 3 级。对 15 名平均年龄为 22 个月的 PVL 患者进行了脑电图检查。更严重的 PVL 等级与更差的脑电图模式明显相关（P = 0.005）。五名患者的脑电图出现 DEE-SWAS 模式，他们都患有 2 级或 3 级 PVL。三名患有 PVL 的婴儿最终被确诊为癫痫：结论：脑电图可帮助识别早产 PVL 婴儿生命早期的重要异常电图模式；这可能为早期干预和改善该人群的长期发育结果提供了机会之窗。

{"title":"Electroencephalographic Patterns on Follow-Up Visits in Extremely Premature Infants With Periventricular Leukomalacia: An Observational Study","authors":"Sammie Lai MD , Jacob Keeley MS , Danielle Nolan MD , Elizabeth Kring NSN, CCRC , Nicole Rickard MS, OTRL , Amanda S. Froling MPT, C/NDT , Rawad Obeid MD","doi":"10.1016/j.pediatrneurol.2024.05.014","DOIUrl":"10.1016/j.pediatrneurol.2024.05.014","url":null,"abstract":"<div><h3>Background</h3><p>Periventricular leukomalacia (PVL) is a common brain injury in premature infants, and epilepsy remains a significant complication. One concerning electroencephalographic (EEG) pattern found is developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS). This pattern is associated with persistent neuropsychological and motor deficits, even without a diagnosis of epilepsy. The purpose of this study is to identify the relationships between various PVL grades and EEG patterns in this population on follow-up visits, especially the occurrence of DEE-SWAS pattern on EEG.</p></div><div><h3>Methods</h3><p>This is a retrospective study of <36 weeks gestational age newborns who were followed in the neurodevelopmental clinic at Corewell Health East/Corewell Health Children's Hospital in Royal Oak, Michigan, between 2020 and 2022. Patients' demographics along with prematurity complications, diagnostic head ultrasound (HUS), and EEG studies were reviewed and graded. EEG studies are usually ordered when seizures were suspected.</p></div><div><h3>Results</h3><p>A total of 155 newborns met the inclusion criteria. Twenty-six patients had PVL. Nine patients had grade 2 to 3 PVL based on HUS review. EEG was performed on 15 patients with PVL at a mean age of 22 months. More severe PVL grades were significantly associated with worse EEG patterns (<em>P</em> = 0.005). Five patients had DEE-SWAS pattern on EEG, all of whom had grade 2 or 3 PVL. Epilepsy was eventually diagnosed in three infants with PVL.</p></div><div><h3>Conclusions</h3><p>EEG can help identify important abnormal electrographic patterns in premature infants with PVL early in life; this might give a window of opportunity to intervene early and improve long-term developmental outcomes in this population.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141451141","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}

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