child neurology

儿童神经病学
  • 文章类型: Journal Article
    我们的核心前提是,生酮饮食的个性化变化可能会使患有多个领域的神经精神症状的儿科患者受益。尽管小儿癫痫目前是严格生酮饮食的公认适应症,缺乏知识,因此缺乏临床指南,可以推荐营养酮症用于广泛的儿科疾病,如自闭症谱系障碍和多动症,即使存在共病癫痫。然而,有已发表的队列研究和目前的临床试验实施医学生酮治疗认知障碍,精神病合并症,运动障碍,甚至神经炎症。作为整体实践者,我们必须全面考虑儿童的健康-当生酮饮食在治疗肥胖等神经外疾病方面可能具有协同作用时,还提供生酮饮食作为治疗选择。虽然有独特的儿科潜在不良副作用,如线性生长减速和微量营养素缺乏,以前的癫痫试验和我们中心的经验已经证明,在适当的患者监测和支持下,生酮饮食是一种低风险干预措施.
    Our core premise is that personalized variations of a ketogenic diet are likely to benefit pediatric patients with neuropsychiatric symptoms across multiple domains. Although pediatric epilepsy is currently a well-accepted indication for a strict ketogenic diet, there is a dearth of knowledge and therefore clinical guidelines upon which to recommend nutritional ketosis for pervasive pediatric conditions such as autism spectrum disorder and ADHD, even when comorbid epilepsy is present. However, there are published cohort studies and current clinical trials implementing medical ketogenic therapies for cognitive impairment, psychiatric comorbidities, motor disability, and even neuroinflammation. As holistic practitioners, it is imperative that we consider the health of a child in its entirety - and additionally offer the ketogenic diet as a therapeutic option when it may be synergistic in treating extra-neurologic diseases such as obesity. While there are uniquely pediatric potential adverse side effects such as linear growth deceleration and micronutrient deficiencies, previous trials in epilepsy and our center\'s experience have already proven the ketogenic diet to be a low-risk intervention when optimized with appropriate patient monitoring and support.
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  • 文章类型: Historical Article
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  • 文章类型: Journal Article
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  • 文章类型: Review
    目的:本研究旨在评估伊斯坦布尔三级神经肌肉中心142名患者的肌萎缩蛋白病中癫痫的患病率和特征。土耳其。
    方法:我们记录了癫痫发作时的年龄,癫痫发作类型,家族史,高热惊厥史,治疗,和脑电图结果。癫痫根据最新的国际抗癫痫联盟(ILAE)分类进行分类。
    结果:在142例DMD患者中,8例癫痫发作(5.6%)。患者的中位年龄为11岁(8.0-15.2)。首次出现DMD症状的中位年龄为24个月(16.5-37.5)。所有癫痫发作均与全身性强直-阵挛性癫痫发作一致。三名患者目前正在服用抗癫痫药物。
    结论:我们的研究中癫痫的患病率(5.6%)超过了普通儿科人群(0.5-1%)。然而,肌营养不良症患儿的高热惊厥频率与一般人群相似。
    OBJECTIVE: This study aimed to assess the prevalence and characteristics of epilepsy in dystrophinopathies within a cohort of 142 patients at a tertiary neuromuscular center in Istanbul, Turkey.
    METHODS: We recorded the age at seizure onset, seizure type, family history, history of febrile seizures, treatment, and EEG results. Epilepsy was classified according to the latest International League Against Epilepsy (ILAE) classification.
    RESULTS: Of the 142 DMD patients, 8 experienced epileptic seizures (5.6 %). The median age of the patients was 11 years (8.0-15.2). The median age for the first DMD symptoms was 24 months (16.5-37.5). All seizures were consistent with generalized tonic-clonic seizures. Three patients are currently on anti-seizure medication.
    CONCLUSIONS: The prevalence of epilepsy in our study (5.6 %) exceeds that of the general pediatric population (0.5-1 %). However, the frequency of febrile seizures in children with dystrophinopathy is similar to that of the general population.
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  • 文章类型: Journal Article
    目的:本研究探讨了COVID-19大流行对被诊断患有神经精神疾病的儿童家庭的影响,专注于压力动态和生活质量。
    方法:进行了为期三年(2020-2022年)的纵向调查,涉及168个家庭。调查包括人口统计数据,诊断条件,获得治疗,心理健康,和感知的挑战。
    结果:该研究分别涉及2020年,2021年和2022年的62、51和55个家庭。多动症成为最普遍的疾病,在大约32%的儿童中诊断。大流行严重影响了治疗机会,父母报告从2020年的8.1分下降到2022年的6.5分(p=0.029)。家长们还报告说,越来越多的人感到不知所措,2021年达到8.0的峰值,2022年降至6.3(p=0.017)。尽管面临这些挑战,家庭心理健康有一个积极的趋势,分数从2020年的5.1增加到2022年的6.7(p=0.031)。父母压力指数(PSI)表明情绪压力和亲子沟通困难呈下降趋势(p<0.001),儿童的行为挑战显示出逐年显著降低(p<0.001)。医院焦虑和抑郁量表(HADS)反映了焦虑水平从2020年的7.6下降到2022年的6.0(p=0.038),虽然抑郁评分没有显著变化.
    结论:COVID-19大流行给患有神经精神病学诊断的儿童的家庭带来了显著的挑战,特别是在获得治疗和增加父母的压力。然而,这项研究还揭示了家庭动态的普遍改善,心理健康,随着时间的推移,行为挑战也会减少。这项研究的必要性源于迫切需要检查COVID-19大流行对患有神经精神病学诊断儿童的家庭的影响,专注于他们在导航治疗时的韧性和适应性,父母的压力,和整体心理健康。
    OBJECTIVE: This study explores the impact of the COVID-19 pandemic on families with children diagnosed with neuropsychiatric disorders, focusing on stress dynamics and quality of life.
    METHODS: A longitudinal survey was conducted over three years (2020-2022) involving 168 families. The survey included data on demographics, diagnosed conditions, access to therapies, mental well-being, and perceived challenges.
    RESULTS: The study involved 62, 51, and 55 families in 2020, 2021, and 2022, respectively. ADHD emerged as the most prevalent condition, diagnosed in approximately 32% of the children. The pandemic significantly affected therapy access, with parents reporting a decrease from an average score of 8.1 in 2020 to 6.5 in 2022 (p = 0.029). Parents also reported increased feelings of being overwhelmed, peaking at 8.0 in 2021 before declining to 6.3 in 2022 (p = 0.017). Despite these challenges, there was a positive trend in family mental well-being, with scores increasing from 5.1 in 2020 to 6.7 in 2022 (p = 0.031). The Parental Stress Index (PSI) indicated decreasing trends in Emotional Stress and Parent-Child Communication Difficulties (p < 0.001), and Behavioral Challenges in children showed a significant reduction across the years (p < 0.001). The Hospital Anxiety and Depression Scale (HADS) reflected a moderate reduction in anxiety levels from 7.6 in 2020 to 6.0 in 2022 (p = 0.038), although depression scores did not show a significant change.
    CONCLUSIONS: The COVID-19 pandemic introduced notable challenges for families with neuropsychiatrically diagnosed children, particularly in therapy access and increased parental stress. However, the study also reveals a general improvement in family dynamics, mental well-being, and a decrease in behavioral challenges over time. The necessity of this study stems from the critical need to examine the impact of the COVID-19 pandemic on families with neuropsychiatrically diagnosed children, focusing on their resilience and adaptation in navigating therapy access, parental stress, and overall mental well-being.
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  • 文章类型: Journal Article
    从医学院毕业的时候,医学生主要接触成人神经病学,而接触儿童神经病学的机会有限。儿童神经病学是一个独特的领域,包括照顾从常规到罕见的神经系统疾病的儿童。在儿童神经病学方面有许多独特的职业机会,包括在住院和门诊环境中。本文旨在为对儿童神经病学感兴趣的医学生提供实用建议,为成功的比赛和有意义的职业做好准备。
    At the time of graduation from medical school, medical students have been exposed primarily to adult neurology and have limited exposure to child neurology. Child neurology is a unique field that encompasses caring for children with neurological conditions ranging from routine to rare. There are many opportunities for a variety of unique careers in child neurology including both in the inpatient and outpatient setting. This article aims to provide practical advice for the medical student interested in child neurology to best prepare for a successful match and rewarding career.
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  • 文章类型: Journal Article
    随着全球人口老龄化和神经科医师的有限可用性,神经系统疾病的患病率增加可能导致患者预后恶化。由于COVID-19大流行,远程医疗服务激增,尽管公共卫生措施有所放松,需求依然存在。远程医疗技术有可能缩小扩大医疗范围的物理差距。这个为期半天的学术研讨会旨在为解决这些问题提供学习机会。
    该研讨会包括儿科住院医师(PGY1-PGY3)之间的小型和大型病例讨论,由两名儿童神经科教师主持Zoom。参与者收到了一份学习者文件,其中包含每种情况的预读文章和问题。带有视频演示的PowerPoint演示文稿用于介绍案例并指导讨论。
    在25位与会者中,14(56%的回复率)回答了一项非强制性的会后调查。86%的受访者对所涵盖的内容非常或非常满意,并且对内容交付的有效性也同样满意。百分之七十九的受访者认为这些内容对筹备董事会有帮助或非常有帮助,93%的人预计在临床实践中偶尔或频繁地应用所涵盖的内容。
    通过视频演示进行小组讨论有助于提高对远程医疗技术的熟练程度,并检查儿科患者与董事会相关的病例。人们对随后的远程医疗半天研讨会产生了浓厚的兴趣,该研讨会将通过有关患者病例情景的小组讨论进行教学。
    Increasing prevalence of neurologic disorders with an aging global population and limited availability of neurologists may lead to worse patient outcomes. As a result of the COVID-19 pandemic, telehealth services surged, and despite easing public health measures, the demand has remained. Telehealth technology has the potential to close the physical gaps in expanding the reach of care. This academic half-day workshop sought to provide a learning opportunity in response to these concerns.
    The workshop consisted of small- and large-group case discussions among pediatric resident physicians (PGY 1-PGY 3) moderated by two child neurology faculty physicians over Zoom. Participants received a learner document with prereading articles and questions for each case. PowerPoint presentations with video demonstrations were used to introduce the cases and guide discussions.
    Of the 25 attendees, 14 (56% response rate) answered a nonmandatory postsession survey. Eighty-six percent of the respondents were very or extremely satisfied with the content covered and were similarly satisfied with the effectiveness of content delivery. Seventy-nine percent of the respondents found the content helpful or very helpful in preparation for the board, and 93% anticipated applying the content covered occasionally or frequently in their clinical practice.
    Small-group discussions with video demonstrations are helpful in increasing proficiency with telehealth technology and in examining board-relevant cases on pediatric patients. There is strong interest in subsequent telehealth half-day workshops that incorporate teaching through group discussions on relevant patient case scenarios.
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  • 文章类型: Journal Article
    精准医学旨在了解疾病的机制,并找到适合每个个体或一组患者的治疗方法。根据生物学特性和环境。它使用基于数字技术的新工具。叙事医学是理论化的,在2000年代,作为对日益增加的技术性和缺乏人际关系护理概念的反应:它侧重于认识到患者的疾病经历和生活史在疾病诊断和管理以及护理人员培训中的重要地位。这两个相反的电流很少一起考虑。事实上,他们有一个共同的基本原则,即每个病人都是独一无二的,两者往往比我们想象的更紧密地交织在一起,尤其是在儿童神经病学领域。这里介绍的五个病例历史和讨论旨在证明将精确方法与叙事方法相结合可以改善诊断。治疗,分类,以及对神经系统状况的理解,以及加强与家庭的对话,使教学更有意义。不仅是罕见的疾病,还有常见的问题,比如阵发性事件,疼痛,癫痫,智力残疾,自闭症谱系障碍,从两个角度解决。
    Precision medicine aims to understand the mechanisms of diseases and to find treatments adapted to each individual or group of patients, on the basis of biological characteristics and environment. It uses new tools based on digital technologies. Narrative medicine was theorized, in the 2000s, as a reaction to the increasing technicality and the notion of a lack of human relations in care: It focuses on recognizing the essential place of the patient\'s experience of illness and life history in the diagnosis and management of diseases as well as in the training of caregivers. These two opposite currents are rarely considered together. In fact, they have in common the basic principle that each patient is unique, and both are often more closely intertwined than we think, especially in the field of child neurology. Five case histories and discussions presented here aim to demonstrate that combining the precision approach with the narrative approach can improve the diagnosis, treatment, classification, and understanding of neurological conditions, as well as enhance the dialog with families and make teaching more meaningful. Not only rare diseases but common problems, such as paroxysmal events, pain, epilepsy, intellectual disability, and autism spectrum disorder, are addressed from both perspectives.
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  • 文章类型: Journal Article
    美国神经病学会(AAN)建议为所有妊娠能力癫痫患者(PWEGC)提供年度性和生殖健康(SRH)咨询。儿童神经学家报告说,青少年很少讨论SRH问题。关于此类咨询文件的研究有限。
    我们回顾性研究了使用自然语言处理的临床记录,以调查儿童神经科医生为青少年和年轻成人PWEGC提供SRH咨询的文档。我们将笔记分割成句子,并评估月经的参考,性活动,避孕,叶酸,致畸剂,和怀孕。我们在标签应用程序中开发了训练集,并使用机器学习来识别其他咨询实例。我们反复重复这个,直到我们确定没有新的相关句子。我们使用外部审稿人验证了结果;在删除审稿人不同意的句子后(n=13/400),我们计算了模型和审阅者之间的Cohen\的kappa值(所有类别>0.98)。我们通过描述性统计和逻辑回归评估了每个日历年每位患者的标记文本,适应种族/民族,年龄,和致畸剂的使用。
    数据包括971名13-21岁的PWEGC,2277名患者年和3663名门诊儿童神经病学笔记。近一半的患者年缺乏SRH咨询文件(49.1%)。在所有患者中,38.0%从未记录过SRH咨询。在26.7%的患者年中,有关于月经的文献,叶酸含量为25.0%,避孕占21.9%,怀孕3.5%,致畸剂在3.0%,性活动占1.8%。关于月经和避孕的文献与具有较高致畸作用风险的抗癫痫药物的处方相关(OR=1.27,p=0.020,95%CI=[1.04,1.54];OR=1.27,p=0.027,95%CI=[1.03,1.58])。关于避孕的文件,叶酸,老年患者的性活动增加(OR=1.28,p<0.001,95%CI=[1.21,1.35];OR=1.26,p<0.001,95%CI=[1.19,1.32];OR=1.26,p=0.004,95%CI=[1.08,1.47])。在确定为白人/非西班牙裔的患者中,有关性活动的文献减少(OR=0.39,p=0.007,95%CI=[0.20,0.78])。
    儿童神经学家为PWEGC提供关于SRH的咨询频率低于AAN根据文档推荐的频率。
    Rationale The American Academy of Neurology (AAN) recommends annual sexual and reproductive health (SRH) counseling for all people with epilepsy of gestational capacity (PWEGC). Child neurologists report discussing SRH concerns infrequently with adolescents. Limited research exists regarding documentation of such counseling.
    We retrospectively studied clinical notes using natural language processing to investigate child neurologists\' documentation of SRH counseling for adolescent and young adult PWEGC. We segmented notes into sentences and evaluated for references to menstruation, sexual activity, contraception, folic acid, teratogens, and pregnancy. We developed training sets in a labeling application and used machine learning to identify additional counseling instances. We repeated this iteratively until we identified no new relevant sentences. We validated results using external reviewers; after removing sentences reviewers disagreed on (n = 13/400), we calculated Cohen\'s kappa values between the model and reviewers (>0.98 for all categories). We evaluated labeled texts for each patient per calendar year with descriptive statistics and logistic regression, adjusting for race/ethnicity, age, and teratogen use.
    Data comprised 971 PWEGC age 13-21 years with 2277 patient-years and 3663 outpatient child neurology notes. Nearly half of patient-years lacked SRH counseling documentation (49.1%). Among all patients, 38.0% never had SRH counseling documented. Documentation was present regarding menstruation in 26.7% of patient-years, folic acid in 25.0%, contraception in 21.9%, pregnancy in 3.5%, teratogens in 3.0%, and sexual activity in 1.8%. Documentation regarding menstruation and contraception was associated with prescription of antiseizure medications that have a higher risk of teratogenic effects (OR = 1.27, p = 0.020, 95% CI = [1.04,1.54]; OR = 1.27, p = 0.027, 95% CI = [1.03,1.58]). Documentation regarding contraception, folic acid, and sexual activity was increased among older patients (OR = 1.28, p < 0.001, 95% CI = [1.21,1.35]; OR = 1.26, p < 0.001, 95% CI = [1.19,1.32]; OR = 1.26, p = 0.004, 95% CI = [1.08,1.47]). Documentation regarding sexual activity was decreased among patients identifying as White/Non-Hispanic (OR = 0.39, p = 0.007, 95% CI = [0.20,0.78]).
    Child neurologists counsel PWEGC on SRH less frequently than recommended by the AAN based on documentation.
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  • 文章类型: Journal Article
    COVID-19大流行的技术和紧急情况的最新发展刺激了罕见癫痫患者远程医疗的创新。这篇综述详细介绍了远程医疗可用于罕见疾病的诊断和管理的多种方式,药物耐药性癫痫,并通过调查小儿癫痫患者的护理人员来记录我们的经验。癫痫评估的大多数组成部分,包括历史和考试,神经影像学,脑电图(EEG)可以远程执行或检查,假设诊断研究的技术和质量相似。癫痫发作和癫痫的诊断是通过照顾者的智能手机视频记录和\'流动\'脑电图的协助加强。现在,在临床和研究环境中,通过纸质癫痫发作日记监测患者癫痫发作频率正越来越多地被电子日记所取代。电子扣押日记具有许多优点,例如数据耐久性,增加可达性,实时可用性,更容易分析。远程医疗增强了获得专门的癫痫护理的机会,已被证明可以降低死亡率并改善患者的依从性和预后。远程医疗还可以在卓越中心对罕见癫痫患者进行评估,并增加临床试验的入学率。降低癫痫患者的死亡风险可以通过远程咨询和解决精神病合并症来实现。在儿童国家医院接受治疗的癫痫患儿的护理人员的调查结果显示,54/56(96.4%)发现不必通勤对他们的远程医疗体验有积极的贡献。总的来说,大多数受访者对远程医疗访问有积极的体验。几乎所有受访者(98%)对他们的远程医疗访问以及他们与提供者进行远程医疗交流的能力以及“非常可能”或“可能”希望使用远程医疗进行一些未来的临床访问。罕见癫痫的远程医疗是可行的,在许多方面,与传统的评估和管理相当。
    罕见癫痫患者的远程医疗最近由COVID-19大流行引起的技术进步和限制刺激了罕见癫痫患者远程医疗的创新。这篇综述详细介绍了远程医疗可用于罕见疾病的诊断和管理的多种方式,耐药性癫痫,并通过调查小儿癫痫患者的护理人员来记录我们的经验。癫痫评估的大多数组成部分可以远程进行或检查,假设诊断研究的技术和质量相似。癫痫发作和癫痫诊断通过护理人员智能手机视频记录和“移动”脑电图(EEG)的协助得到加强。现在,在临床和研究环境中,通过纸质癫痫发作日记监测患者癫痫发作频率正越来越多地被电子日记所取代。电子扣押日记具有许多优点,例如数据耐久性,增加可达性,实时可用性,更容易分析。远程医疗增强了获得专门的癫痫护理的机会,已被证明可以降低死亡率并改善患者的依从性和预后。远程医疗还可以在卓越中心对罕见癫痫患者进行评估,并增加临床试验的入学率。降低癫痫患者的死亡风险可以通过远程咨询和解决相关的心理健康问题来实现。在儿童国家医院接受治疗的癫痫患儿的护理人员的调查结果显示,大多数受访者发现不必通勤对他们的远程医疗体验做出了积极贡献。几乎所有受访者都对他们的远程医疗访问以及他们与提供者通过远程医疗进行通信的能力“非常满意”或“满意”,并且“非常有可能”或“可能”希望使用远程医疗进行一些未来的临床访问。罕见癫痫的远程医疗是可行的,在许多方面,与传统的评估和管理相当。
    Recent developments in technology and exigencies of the COVID-19 pandemic have spurred innovations for telehealth in patients with rare epilepsies. This review details the many ways telehealth may be used in the diagnosis and management of rare, pharmacoresistant epilepsy and documents our experience as measured by surveying caregivers of pediatric patients with epilepsy. Most components of the epilepsy evaluation, including history and examination, neuroimaging, and electroencephalogram (EEG) can be performed or reviewed remotely, assuming similar technique and quality of diagnostic studies. Seizure and epilepsy diagnosis is enhanced through the assistance of caregiver smart phone video recordings and \'ambulatory\' EEG. Monitoring patient seizure frequency through paper seizure diaries is now increasingly being replaced by electronic diaries in both clinical and research settings. Electronic seizure diaries have numerous advantages such as data durability, increased accessibility, real-time availability, and easier analysis. Telehealth enhances access to specialized epilepsy care, which has been shown to reduce mortality and improve patient compliance and outcomes. Telehealth can also enable evaluation of patients with rare epilepsy in centers of excellence and enhance enrollment in clinical trials. Reducing mortality risk in patients with epilepsy can be accomplished through remote counseling and addressing psychiatric co-morbidities. Findings from surveying caregivers of children with epilepsy treated at Children\'s National Hospital showed that 54/56 (96.4%) found that not having to commute to the appointment positively contributed to their telemedicine experience. Overall, most respondents had a positive experience with their telemedicine visit. Almost all respondents (98%) were either \'very happy\' or \'happy\' with their telemedicine visit and their ability to communicate over telemedicine with the provider and either \'very likely\' or \'likely\' to want to use telemedicine for some future clinic visits. Telehealth in rare epilepsies is feasible and, in many ways, comparable with traditional evaluation and management.
    Telehealth for patients with rare epilepsies Recent technological advancements and constraints caused by the COVID-19 pandemic have spurred innovations for telehealth in patients with rare epilepsies. This review details the many ways telehealth may be used in the diagnosis and management of rare, drug-resistant epilepsy and documents our experience as measured by surveying caregivers of pediatric patients with epilepsy. Most components of the epilepsy evaluation can be performed or reviewed remotely, assuming similar technique and quality of diagnostic studies. Seizure and epilepsy diagnosis is enhanced through the assistance of caregiver smart phone video recordings and ‘ambulatory’ electroencephalogram (EEG). Monitoring patient seizure frequency through paper seizure diaries is now increasingly being replaced by electronic diaries in both clinical and research settings. Electronic seizure diaries have numerous advantages such as data durability, increased accessibility, real-time availability, and easier analysis. Telehealth enhances access to specialized epilepsy care, which has been shown to reduce mortality and improve patient compliance and outcomes. Telehealth can also enable evaluation of patients with rare epilepsy in centers of excellence and enhance enrollment in clinical trials. Reducing mortality risk in patients with epilepsy can be accomplished through remote counseling and addressing related mental health issues. Findings from surveying caregivers of children with epilepsy treated at Children’s National Hospital showed that most respondents found not having to commute to the appointment positively contributed to their telemedicine experience. Almost all respondents were either ‘very happy’ or ‘happy’ with their telemedicine visit and their ability to communicate over telemedicine with the provider and either ‘very likely’ or ‘likely’ to want to use telemedicine for some future clinic visits. Telehealth in rare epilepsies is feasible and, in many ways, comparable with traditional evaluation and management.
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