Objective To investigate the effective management approaches for mental retardat ion plus epilepsy in children.Method Sodium valproat 15～60mg /(kg·day)or nitrazepam0.5～1mg /(kg·day)and guanmaishu containin...Objective To investigate the effective management approaches for mental retardat ion plus epilepsy in children.Method Sodium valproat 15～60mg /(kg·day)or nitrazepam0.5～1mg /(kg·day)and guanmaishu containing hyoscyam ine(0.0045～0.045mg /(kg·day)as adjuvant were administered for 1.5～2consecutive years.EEG,three di mensional Doppler ultrasonic exami nation of cerebral vessels were performed.Result Favorable therapeutic effect was obtained in 25cases(48.1%),good effect in 12cases(23.1%).Conclusion Favorable therapeutic effect of hyoscyamine i n epilepsy is correlated with improved cerebral microcirculation,cortical choline receptor blocking ,red uced con-duction between synapses.These factors all inhibit onset of epilepsy.展开更多
Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights ...Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights and interests of mentally retarded children have greatly improved. But problems in this respect remain serious, and vari- ous levels of government, relevant departments and the public should attach much importance to these problems. This paper, taking a reha- bilitation center in Liaoning Province for mentally retarded children as a single case, studies the protection of these children＇s lawful rights and in- terests in a systematic manner.展开更多
Fragile X syndrome （FXS） is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein （FMRP）. FMRP is an RNA binding protein and can regulate the transl...Fragile X syndrome （FXS） is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein （FMRP）. FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.展开更多
The mutation in CNKSR2 leads to a broad spectrum of phenotypic variability and manifests as an X-linked intellectual disability. However, we reported that the male patient in this study not only had intellectual disab...The mutation in CNKSR2 leads to a broad spectrum of phenotypic variability and manifests as an X-linked intellectual disability. However, we reported that the male patient in this study not only had intellectual disability but also epileptic seizures. In addition, there were progressive language impairment, attention deficit hype-ractivity disorder and autism. Electroencephalograms showed continuous spike-and-wave during sleep. Genetic testing revealed a de novo mutation of the CNKSR2 gene(c.2185C >T, p.Arg729Ter) in the child that was not detected in the parents. Therefore, the child was diagnosed with X-linked epilepsy aphasia syndrome. Deletion of the CNKSR2 gene has been rarely reported in epilepsy aphasia syndrome, but no de novo mutation has been found in this gene. This report not only adds to the spectrum of epilepsy aphasia syndrome but also helps clinicians in diagnosis and genetic counseling.展开更多
脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病。本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,...脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病。本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,其中先证者伴有罕见的晚发性癫痫发作,经左乙拉西坦治疗效果良好,而其弟弟经反复随访未见脑电图异常。该对病例提示FXS临床表型具有多样性和异质性。展开更多
文摘Objective To investigate the effective management approaches for mental retardat ion plus epilepsy in children.Method Sodium valproat 15～60mg /(kg·day)or nitrazepam0.5～1mg /(kg·day)and guanmaishu containing hyoscyam ine(0.0045～0.045mg /(kg·day)as adjuvant were administered for 1.5～2consecutive years.EEG,three di mensional Doppler ultrasonic exami nation of cerebral vessels were performed.Result Favorable therapeutic effect was obtained in 25cases(48.1%),good effect in 12cases(23.1%).Conclusion Favorable therapeutic effect of hyoscyamine i n epilepsy is correlated with improved cerebral microcirculation,cortical choline receptor blocking ,red uced con-duction between synapses.These factors all inhibit onset of epilepsy.
文摘Mentally retarded children are the most disadvan- taged among disabled children. Since the reform and opening up, with sup- port from the Communist Party of China, the government and the public, the legitimate rights and interests of mentally retarded children have greatly improved. But problems in this respect remain serious, and vari- ous levels of government, relevant departments and the public should attach much importance to these problems. This paper, taking a reha- bilitation center in Liaoning Province for mentally retarded children as a single case, studies the protection of these children＇s lawful rights and in- terests in a systematic manner.
文摘Fragile X syndrome （FXS） is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein （FMRP）. FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.
基金Supported by Jining Medical University,No.JYP201740
文摘The mutation in CNKSR2 leads to a broad spectrum of phenotypic variability and manifests as an X-linked intellectual disability. However, we reported that the male patient in this study not only had intellectual disability but also epileptic seizures. In addition, there were progressive language impairment, attention deficit hype-ractivity disorder and autism. Electroencephalograms showed continuous spike-and-wave during sleep. Genetic testing revealed a de novo mutation of the CNKSR2 gene(c.2185C >T, p.Arg729Ter) in the child that was not detected in the parents. Therefore, the child was diagnosed with X-linked epilepsy aphasia syndrome. Deletion of the CNKSR2 gene has been rarely reported in epilepsy aphasia syndrome, but no de novo mutation has been found in this gene. This report not only adds to the spectrum of epilepsy aphasia syndrome but also helps clinicians in diagnosis and genetic counseling.
文摘脆性X综合征(fragile X syndrome,FXS)是FMR1基因CGG异常重复扩增导致的疾病。本文报告1对经基因检测诊断为FXS的兄弟,2例患者分别为15岁和14岁,均存在语言障碍、智力障碍、注意力缺陷障碍、孤独症谱系障碍和FXS特征性面容等临床表现,其中先证者伴有罕见的晚发性癫痫发作,经左乙拉西坦治疗效果良好,而其弟弟经反复随访未见脑电图异常。该对病例提示FXS临床表型具有多样性和异质性。
