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find Keyword "婴儿癫痫" 6 results
  • 出生后一年内癫痫综合征的发病率与预后:一项基于人群的回顾性研究

    基于人群的婴儿癫痫综合征研究尚不足。该研究的目的在于,从人群中一组出生后1年内起病的癫痫患儿中,提炼出有关综合征发病率及预后的数据。纳入1997年-2006年间住在赫尔辛基大学医院服务区域的所有12月龄内起病的癫痫患儿。通过查看所有患儿病历资料,根据医院的统计数据确认可否纳入研究。再对从患儿病历资料中总结出癫痫综合征、起病年龄、病因,以及在24个月龄时的结局进行了再评估。共158例婴儿达到了纳入标准,其中92%随访满24个月或死亡。出生后第1年的癫痫发病率为124/10万。根据国际抗癫痫联盟(ILAE)癫痫分类标准修正版,其中58%可被归类为某种癫痫综合征。最常见的癫痫综合征为West综合征(41/10万)和良性家族性或非家族性婴儿癫痫(22/10万)。35%的病因为结构-代谢性,17%为基因性,还有48%病因不明。起病早与结构-代谢性病因相关。有7例(4.4%)患儿在2岁以前死亡。1例有SCN2A基因突变的患儿死于癫痫猝死。研究显示良性家族性及非家族性婴儿癫痫比以往的估计更为高发,仅次于West综合征。起病早并不是预后差的独立危险因素。

    Release date:2017-09-26 05:09 Export PDF Favorites Scan
  • Effects of COVID-19 pandemic on patients with infantile epileptic spasms syndrome and their parents

    ObjectiveTo assess the effects of the Coronavirus disease 2019 (COVID-19) epidemic on patients with infantile epileptic spasms syndrome and their parents through an online questionnaire survey.MethodsThis study was a cross-sectional study conducted from May to June 2022. The questionnaire focused on seizure attacks, medical visits, and the mental health assessment of parents. ResultsA total of 67 patients with infantile epileptic spasms syndrome were included in this study. During the epidemic, 25.37% of the patients experienced increased spasms, and 73.13% of the patients had limited commercial availability of anti-seizure medications, mainly vigabatrin and clobazam. All patients had difficulty seeking medical services, and about 73.13% of them used telemedicine service. In addition, 31.34% of parents felt anxious, and 73.14% had different degrees of depressive symptoms. ConclusionThe difficulty in seeking medical services, limited commercial availability of anti-seizure medications, and the anxiety and depressive states of parents during the COVID-19 pandemic aggravate the difficulty in management of patients with infantile epileptic spasms syndrome. Improvement of the health care system and medication management strategy, as well as reasonable use of telemedicine service, may help solve this problem.

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  • NR2F1基因变异致婴儿癫痫性痉挛综合征一例

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  • Valuation of burden of amplitudes and epileptiform discharges score in the efficacy of adrenocorticotropic hormone therapy for infantile epileptic spasms syndrome

    Objective To explore the evaluation value of burden of amplitudes and epileptiform discharges score (BASED) in the efficacy of adrenocorticotropic hormone (ACTH) combined with magnesium sulfate therapy for infantile epileptic spasms syndrome (IESS). Methods Retrospective collection the clinical and EEG data of 124 patients admitted to the Dongguan Maternal and Child Health Care Hospital from 2015 to 2023, who were diagnosed with IESS and treated with ACTH combined with magnesium sulfate. According to whether there were epileptic seizures 14 days after ACTH treatment, the patients were divided into two groups: non seizure group (n=74 cases) and seizure group (n=50 cases). The BASED system was used to evaluate the relationship between changes in EEG before and after ACTH treatment and clinical efficacy in both groups. The analysis of electroencephalogram included: ① abnormally high amplitude background waves, ② >3 spike foci , ③ grouped multifocal spikes, ④ paroxysmal voltage attenuation. ResultThe control rate of ACTH combined with magnesium sulfate in the treatment of IESS was 59.7% (74/124), and there was no statistically significant difference in the control rate among children with different etiologies (P=0.09). The BASED score suggests that the overall response rate of electroencephalogram (EEG) in infants with epileptic spasm syndrome after treatment was 57.2%. The EEG remission rate in the seizure control group was 81% (60/74), while in the uncontrolled group was 22% (11/50). The EEG remission rate in the seizure control group was significantly higher than that in the uncontrolled group after treatment (P<0.001), and the EEG score was closely related to clinical efficacy (Spearman correlation coefficient rp=0.601, P<0.001). ConclusionThe BASED score is related to clinical efficacy, and it can provide a quantitative basis for evaluating the efficacy of ACTH combined with magnesium sulfate in the treatment of IESS.

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  • Current status of treatment for infantile epileptic spasm syndrome

    Infantile epileptic spasm syndrome (IESS) is an age-dependent epileptic encephalopathy that onset within 3 ~ 12 months. Commonly used Anti-seizure medications (ASMs) have poor efficacy, low long-term control rate and high recurrence rate, and often leave behind sequelae such as developmental delay/intellectual disability, and autism spectrum disorders. At present, the first-line recommended treatments for IESS are Adrenocorticotropic hormone (ACTH), adrenocortical hormone and vigabatrin. If ineffective, other ASMs, ketogenic diets, and surgical treatments can be tried. This article will provide a review of the current status and related clinical applications of IESS treatment.

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  • 母源KCNQ3基因突变致自限性家族性新生儿癫痫一例

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