Myoclonic absence seizures with complex gestural automatisms

Epilepsy with myoclonic absences is a rare generalized epilepsy syndrome with distinctive seizures. Two unrelated children had mild developmental impairment and onset of myoclonic-absences at 3 and 8 years. Seizures were characterized by bilateral 3 Hz myoclonic jerks superimposed on tonic abduction of the upper limbs. Events lasted 10–60 s, and complex gestural automatisms were often observed; in one case, a boy undid his seatbelt and attempted to exit a moving vehicle. Post-ictally, both children immediately regained awareness without recollection of their actions. Ictal EEGs showed 3 Hz generalized spike-wave. Complex automatisms have not been described in myoclonic absence seizures. This generalized seizure type can be confused with focal seizures when these ictal behaviours occur.     

脑电图标准化闪光刺激试验在癫癎诊断中的意义

目的研究儿童癫与光敏感性的关系。方法筛选具有光敏感性癫发作相关症状患者进行录像脑电监测,并予标准化闪光刺激(IPS),观察癫患者的临床特点及其光敏感性。结果共收集癫患者67例。男41例,女26例;年龄1~16岁,其中28例符合癫综合征。7例IPS试验阳性,其中5例符合癫综合征:少年失神3例、少年肌阵挛1例、Dravet综合征1例。治疗6例,丙戊酸钠治疗5例中4例发作明显好转,托吡酯治疗1例效果不明显,但指导其避免不良光诱发因素后发作亦有改善。结论标准化的IPS试验有助于检出癫患者的光敏感性,指导全面治疗。     

迷走神经刺激治疗婴幼儿药物难治性癫的病例系列报告

背景：迷走神经刺激（VNS）治疗儿童药物难治性癫（DRE）国内年龄适应证为3岁以上,目前临床在超年龄适应证应用VNS治疗DRE婴幼儿,但其有效性和安全性研究很少。 目的：评估VNS治疗DRE婴幼儿术后的长期疗效、安全性及疗效相关因素。 设计：病例系列报告。 方法：纳入2015年3月至2021年3月于北京大学第一医院癫中心行VNS的DRE婴幼儿,且VNS术后规律程控随访至少1年、程控期间刺激电流参数＞1 mA。排除VNS期间接受新增抗癫发作治疗（癫外科手术治疗、生酮饮食、应用糖皮质激素或促肾上腺皮质激素）,因各种原因而导致VNS程控关机、中断的患儿。以患儿家长癫日记所记录的所有发作类型的频率作为主要评估依据,行随访有效率（末次随访点较VNS植入前3个月发作频率减少≥50%）和癫发作减少率、考察临床信息及程控参数对疗效和安全性的影响。 主要结局指标：VNS术后有效率和癫发作减少率。 结果：符合本文纳入排除标准的VNS治疗DRE婴幼儿25例,男16例（64%）、女9例。癫起病年龄中位数4.9月,癫病程中位数1.7年,VNS治疗前每月发作中位数555次。VNS电极植入中位年龄2.3岁。病程中曾应用抗癫发作药物（ASM）3~10种,VNS治疗前3个月应用ASM及其他治疗1~4种,能明确DRE病因12例（48%）,病程中曾诊断癫综合征18例（72%）,存在4、3、2和1种发作形式分别为4、5、6和10例,25例VNS治疗的DRE患儿均存在发育迟缓。VNS术后随访中位数2.4年。VNS术后1年癫发作率最高增加1 367%,最低减少100%,中位数减少52.8%,VNS术后2年癫发作率最高增加1 712%,最低减少100%,中位数减少59.5%。末次随访时有效率为64%,无发作率为20%（5/25）,最长随访2年5个月无发作。VNS术后1年、2年有效率均为60%（15/25,9/15）。VNS术后1年15例有效病例中1例在VNS术后2年转为无效;VNS术后1年10例无效病例中2例在术后2年转为有效。未观察到围术期相关不良反应及设备相关不良反应,4例在程控时出现刺激相关不良反应,其中2例为一过性咳嗽,2例为咽部不适,均可在短时间内耐受。疗效相关因素分析有效组（16例）和无效组（9例）临床信息、末次程控参数和术后ASM调整情况差异均无统计学意义。 结论：DRE婴幼儿VNS治疗随访1和2年有效率均可达到60%,且安全性较好;VNS治疗DRE的年龄下限仍需进一步评估。     

�񾭵��ؼ����ڶ�ͯ����������е�Ӧ��

??Epileptic surgery for children with refractory epilepsy can result in good clinical outcome. For those not suitable for surgery??the neuromodulation as one of treatment methods can be considered. With the development of neuromodulation??vagus nerve stimulation??deep brain stimulation and the responsive neurostimulator system now are available for clinic. The safety and effectiveness of those methods for refractory epilepsy have been confirmed by clinical research. At the same time??those technologies for children with intractable epilepsy also have a good effect. Rational selection and use of neuromodulation can improve clinical outcomes and quality of life in children with refractory epilepsy.     

婴幼儿癫癎临床特点分析

癫痫是小儿神经系统的常见疾病，儿童癫痢发病率比成人高，而婴幼儿又是起病的高发年龄段。我院2001～2004年诊断癫痫患儿293例，其中≤3岁139例（占47．4％），现将其临床特点分析如下。     

Clinical electroencephalograph study of nine pediatric patients with convulsion induced by the TV animation, Pocket Monster

Background. To determine the usefulness of a few types of photic stimulation in patients with photo-convulsive response. Methods. A clinical electroencephalographic study was conducted in nine children who developed convulsions and other symptoms while they watched the TV animation and were subsequently treated at the hospital. Photic stimulation was applied with their eyes open or closed. Another photic stimulation was applied with the video tape of the animation. Results: A photoparoxysmal response (PPR) was never seen in the electroencephalographs (EEG) in any of these patients when photic stimulation was applied with their eyes closed, while PPR was seen in three of seven patients when photic stimulation was applied with their eyes open. Two patients (siblings) showed no specific abnormality when photic stimulation was applied with their eyes either open or closed. However, myoclonus and PPR appeared when the EEG was conducted while they watched the video tape of the animation under supervised conditions. Conclusions: In a society where people are exposed to abundant TV games, TV animation or videos, self-restraint or regulations of frequent use of flickering scenes is thought to be necessary. However, it is also thought to be necessary to conduct EEG by applying photic stimulation, not only with the eyes closed, but also with the eyes opened or by applying flickering red light stimulation, which is emitted from a strong light source, or a combination of two colors, such as red and blue or red and green, in patients with suspected photosensitivity.     

托吡酯联合用药治疗婴幼儿重症癫痫

目的 评价托吡酯(TPM)联合用药治疗婴幼儿重症癫癎的疗效及安全性。方法 对12例重症癫癎婴幼儿(年龄4~19个月)采用TPM联合用药治疗。TPM应用是根据发作形式和频率在原来一个或多个抗癫癎药物的基础上进行联合用药治疗。结果 TPM的起始剂量0.5~1.0mg／(kg·d),加量1次／1~2周,剂量为0.5~1.0 mg／(kg·d),目标剂量为4~10 mg／(kg·d)。TPM治疗时间平均为6.2个月,总有效率75％,无效率25％,完全控制为50％。临床观察局灶性发作疗效明显优于全面性强直-阵挛发作。TPM不良反应较轻,仅3例出现睡眠减少、发热及语言减少。结论 TPM联合用药治疗婴儿重症癫癎有效率较高,是一种安全性好、不良反应轻的治疗方法。     

托吡酯联合用药治疗婴幼儿重症癫癎

目的 评价托吡酯(TPM)联合用药治疗婴幼儿重症癫癎的疗效及安全性。方法 对12例重症癫癎婴幼儿(年龄4~19个月)采用TPM联合用药治疗。TPM应用是根据发作形式和频率在原来一个或多个抗癫癎药物的基础上进行联合用药治疗。结果 TPM的起始剂量0.5~1.0mg／(kg·d),加量1次／1~2周,剂量为0.5~1.0 mg／(kg·d),目标剂量为4~10 mg／(kg·d)。TPM治疗时间平均为6.2个月,总有效率75％,无效率25％,完全控制为50％。临床观察局灶性发作疗效明显优于全面性强直-阵挛发作。TPM不良反应较轻,仅3例出现睡眠减少、发热及语言减少。结论 TPM联合用药治疗婴儿重症癫癎有效率较高,是一种安全性好、不良反应轻的治疗方法。     

Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy

BackgroundLacosamide is effective and well-tolerated antiepileptic drug (AED) in both children and adults.AimThis multicentric, prospective study investigates the efficacy and safety of lacosamide adjunctive therapy in children aged less than four years presenting with refractory focal seizures.MethodsLacosamide was added to the baseline therapy at a starting dose of 1–2 mg/kg/day and titrated to the final dose, ranging from 7 to 15.5 mg/kg/day. Efficacy was evaluated after a three-month period of therapy. When possible, we compared the initial efficacy and the retention after a minimum of 12 months of lacosamide, with regard to loss of efficacy (defined as the return to the baseline seizure frequency).ResultsTwenty-four children were enrolled in the study. Mean age was 2.7 years. After a minimum three-month period of lacosamide add-on therapy, ten (42%) patients were responders (more than a 50% decrease in seizure frequency), of whom 4 (17%) became seizure free. Retention rate, after a minimum of 12 months of lacosamide, was evaluated in a group of 18 patients. In the latter group, eight patients (44%) were initial responders (three of whom seizure free). After 12 months of follow-up, four of them (22%) maintained the improvement, 2 (11%) of whom remained seizure free. A loss of efficacy was observed in 4 of the initial responders (50%). Adverse events were seen in 8 (33%) patients.ConclusionWe conclude that lacosamide is an effective and a well-tolerated antiepileptic drug in an etiologically wide range of focal seizures. Therefore, lacosamide might represent a possible therapeutic option in infants and young children affected by uncontrolled focal epilepsy.     

儿童癫标准过度换气量化脑电图研究

目的　研究标准过度换气量化脑电图对小儿癫诊断的临床价值。方法　应用“F L Y-2”型神经生理信息工作站 ,分析 40例癫患儿及 40例正常儿童过度换气前后不同时段脑电图样本 ,计算脑电图信号的功率谱密度 ,进行统计分析 ,比较两组间的差异。结果 　 1过度换气 3min时癫患儿其慢波 (δ、θ)较正常儿童明显增多 ( P<0 .0 5 )。全导α 2波较正常对照组减少。停止换气后 30 s时 ,正常儿童脑电图已恢复至换气前水平 ,癫患儿 EEG慢波 (δ、θ波 )仍多于对照组。结论　过度换气使癫患儿脑电图明显慢波化 ,对脑电图无棘波发放的癫患儿有辅助诊断的作用     

More daytime sleepiness and worse quality of sleep in patients with Dravet Syndrome compared to other epilepsy patients

Aim

Sleep problems are often reported in patients with a Dravet Syndrome (DS). In this study we explored the sleep behavior in DS and compared the prevalence of sleep problems with other epilepsy patients.

��ﻼ������������Ը߰�Ѫ֢���ٴ��о�

目的探讨癫痫患儿服用丙戊酸(VPA)后高氨血症的发生情况及意义。方法 2006年1月至2010年6月青岛大学医学院附属医院儿科门诊、神经科门诊和病房单用VPA且资料完整的癫痫患儿78例,测量其用药后血氨的变化,分析伴或不伴症状的高氨血症与VPA药物剂量、药物浓度、癫痫病因的相关性。结果单用VPA的癫痫患儿发生VPA相关性高氨血症21例,其中有症状者13例。特发性和隐源性癫痫(ICE)组中的血氨值明显高于症状性癫痫(SE)组(P<0.05),但服用VPA剂量及血VPA药物质量浓度均低于SE组(P<0.05)。无症状-ICE组服用VPA剂量低于无症状-SE组(P<0.05)但血氨浓度和血VPA质量浓度与无症状-SE组差异无统计学意义(P>0.05);而有症状-ICE组血氨浓度高于有症状-SE组(P<0.05),但服用VPA剂量及血VPA质量浓度低于有症状-SE组(P<0.05)。ICE组内与SE组内无论是否有症状,其血氨、服用VPA剂量和血VPA药物质量浓度差异皆无统计学意义(P>0.05)。结论临床医生应密切关注服用VPA的癫痫患儿,一旦发生高氨血症应予停药。     

Sleep habits and disturbances in Malaysian children with epilepsy

Aims: To compare sleep habits and disturbances between Malaysian children with epilepsy and their siblings (age range 4–18 years) and to determine the factors associated with greater sleep disturbance. Methods: The Sleep Disturbance Scale for Children (SDSC) questionnaire was completed by the primary caregiver for 92 epileptic children (mean age 11.1 years, 50 male, 42 females) and their healthy siblings (mean age 11.1 years, 47 males, 45 females). Details of sleep arrangements and illness severity were obtained. Multiple regression analysis was used to determine factors associated with high Total SDSC scores in epileptic patients. Results: Compared with their siblings, epileptic children had significantly higher total SDSC score (difference between means 8.7, 95% confidence interval (CI) 6.4–11.1) and subscale scores in disorders of initiating and maintaining sleep (3.9, 95% CI 2.8–5.2), sleep–wake transition disorders (2.1, 95% CI 1.3–2.9), sleep‐disordered breathing (0.7, 95% CI 0.3–1.1) and disorders of excessive sleepiness (1.5, 95% CI 0.6–2.4). Epileptic children had a higher prevalence of co‐sleeping (73.7% vs 31.5%) and on more nights per week (difference between means 3, 95% CI 2.0–3.9) than their siblings. Higher Epilepsy Illness Severity scores were associated with higher total SDSC scores (P= 0.02). Conclusion: Co‐sleeping was highly prevalent in children with epilepsy, who also had more sleep disturbances (especially problems with initiating and maintaining sleep and sleep–wake transition disorders) than their siblings. Epilepsy severity contributed to the sleep disturbances. Evaluation of sleep problems should form part of the comprehensive care of children with severe epilepsy.     

额叶癫(癎)患儿共患注意缺陷多动障碍的临床观察

目的研究额叶癫癎患儿注意缺陷多动障碍(ADHD)的患病情况及其相关因素。方法回顾1995—2005在山东大学齐鲁医院诊断为额叶癫癎的21例患儿的医疗记录,并对患儿的ADHD患病情况进行随访研究。结果有效随访17例,额叶癫癎患儿58.8%(10/17)患有ADHD,对癫癎与ADHD患病的相关因素分析表明:脑电图异常放电不易控制的患儿ADHD的发生率为88.9%,与脑电图异常放电控制者(25.0%)相比差异有显著性(P=0.02)。结论额叶癫癎患儿有较高的ADHD发生率,脑电图的持续异常放电与额叶癫癎共患ADHD有关。     

Sudden unexplained death in children with epilepsy: a cohort study with an eighteen-year follow-up

Aim: Sudden unexplained death is a significant cause of mortality in adults with epilepsy. Only a few data exist about this risk in childhood. Methods: Cases of sudden unexplained death in epilepsy (SUDEP) up to the age of 18 y occurring at our hospital between 1984 and 2001 were identified. The incidence rate was calculated on the basis of diagnosed epileptics registered with a statutory disability insurance scheme. Results: Four cases of SUDEP were identified during the 18-y period. The incidence of SUDEP was 4.3 per 10 000 patient-years. All children showed polytherapy-refractory epilepsy, developmental retardation and early-onset epilepsy. Two witnessed cases had shown no previous signs of seizure.

Conclusion: SUDEP is rare in childhood. Children with uncomplicated epilepsy seem not to be at risk.     

��ͯ��ﹲ������֢ ����֢

??The prevalence of depression and anxiety in children and adolescents with epilepsy was 12%??36%??but the symptoms of depression and anxiety were rarely recognized and treated. Seizure variables??use of polytherapy??demographic characteristics and child and family adaptation are associated with increases in the symptoms. The use of screening measures increases the recognition of symptoms of depression and anxiety. Treatment of epilepsy-specific symptoms of depression and anxiety involves multidisciplinary collaboration. Pharmacological and psychotherapeutic interventions are recommended??with SSRIs as the first-line medications.     

Ketogenic diet therapy in infants with epilepsy

Approximately 25% of children with epilepsy are drug-resistant. Lack of seizure control in infants impacts developmental outcome and places a large burden on NHS services, but there are few data to guide optimal treatment in infants with drug-resistant epilepsy. Ketogenic diet therapy is an effective non-pharmacological treatment option for individuals with drug-resistant epilepsy and reports of its use in infants have increased over the last decade. This article gives an overview of use of ketogenic diet therapy in infants with epilepsy, including a history of dietary treatment, evidence for efficacy in infants, patient selection and clinical and dietetic management.     

儿童良性枕叶癫癎的临床及脑电图特点

目的：分析比较Panayiotopoulos型及Gastaut型儿童良性枕叶癫癎（BOE）的临床、脑电图特点。方法：回顾性分析16例Panayiotopoulos型及7例Gastaut型BOE患儿的临床资料。结果：Panayiotopoulos型BOE平均起病年龄4.5岁,Gastaut型9.1岁,前者临床特征为发作期的呕吐,惊厥形式多为头眼偏转发作,以夜间为多,常泛化为全身发作,持续时间较长,但发作频率较低;Gastaut型枕叶癫癎视觉症状更常见,发作频率高, 均为白天发作,发作较少全身泛化,6例伴有明显的头痛。23例患儿脑电图均显示枕区为主的后头部高幅癎性放电,常为闭眼诱发,睁眼抑制。Panayiotopoulos型6例及Gastaut型5例患儿进行了睁闭眼试验,Panayiotopoulos型和Gastaut型各4例显示睁眼抑制现象。11 例Panayiotopoulos型及所有7例Gastaut型患儿接受抗癫癎单药治疗,11 例Panayiotopoulos型患儿均对药物反应良好,Gastaut型2例无效,2例伴认知功能障碍。结论：Panayiotopoulos型及Gastaut型儿童BOE在起病年龄、发作频率、持续时间、昼夜分布、视觉症状及对治疗的反应等方面均有差别。［中国当代儿科杂志,2010,12（7）：527-529］