Neurological phenotype of Potocki–Lupski syndrome

Potocki–Lupski syndrome is a condition mainly characterized by infantile hypotonia, developmental delay/intellectual disability (DD/ID), and congenital anomalies, caused by duplications of the 17p11.2 region, encompassing RAI1 gene. Its clinical presentation is extremely variable, especially for what concerns the cognitive level and the behavioral phenotype. Such aspects, as well as the dysmorphic/malformative ones, have been covered by previous studies; otherwise neurological features have never been systematically described. In order to delineate the neurological phenotype of Potocki–Lupski Syndrome, we collect an 8‐patients cohort. Developmental milestones are delayed and a mild to moderate cognitive impairment is present in all patients, variably associated with features of autism spectrum disorder, behavioral disturb, and sleep disturb. Hypotonia appears a less frequent finding than what previously reported, while motor clumsiness/coordination impairment is frequent. EGG registration demonstrated a common pattern with excess of diffuse rhythmic activity in sleep phases or while the patient is falling asleep. Brain MRI did not reveal common anomalies, although unspecific white matter changes may be present. We discuss such findings and compare them to literature data, offering an overview on the neurological and cognitive‐behavioral presentation of the syndrome.     

Neurophysiological and psychological predictors of genetic risk for schizophrenia

Mathematical genetic analyses were performed on a sample of schizophrenic families (25 probands and 58 first-degree relatives). Heritability coefficients were estimated for EEG power spectrum parameters and their topography, and also for psychological test data on thought and speech process disorder, designed to assess altered selectivity in cognitive activity. Multiple regression equations for genetic counseling regarding the prognosis of mental illness were derived from the neurophysiological and psychological measures.     

Activity of Neurons in the Basal Magnocellular Nucleus During Performance of an Operant Task

Spike activity was studied in 95 neurons in the basal magnocellular nucleus in rabbits during spontaneous behavior and during performance of a conditioned operant response. Nearly half the neurons (48.4%) showed significant (p < 0.05) negative correlations between spontaneous discharges and the power of the frontal lobe EEG delta rhythm; most of these cells could be identified as cholinergic projection neurons. Neurons of this group had predominantly excitatory responses to the conditioned stimulus during performance of the operant task, while the responses to the conditioned stimulus of presumptively non-cholinergic neurons, not projecting to the cortex, were mainly inhibitory. The activatory responses of neurons in the basal magnocellular nucleus to the conditioned stimulus were markedly stronger while the animals performed the operant response as compared with performances in which there was no response to the conditioned stimulus. These results provide evidence that the basal magnocellular nucleus supports the level of waking and attending required for performance of operant conditioned reflex activity.     

Developmental characteristics of topographic EEG in the newborn using an autoregressive model

Summary Autoregressive topographic EEG analysis was used to determine topographic EEGs of the total power in quiet and active sleep stages in 33 healthy premature infants of 34 to 40 weeks conceptional age. The developmental characteristics were also examined by simultaneously referring to the autoregressive pattern discrimination of topographic EEGs between different conceptional age groups in both sleep stages. Treating 10.24 seconds of EEG as one segment, the topographic EEG of 10 segments in each of the quiet and active sleep stages as well as their mean were obtained. In both sleep stages the results showed a small peak in total power in the frontal region and a large peak in the occipital region, but total power was greater in the quiet sleep. Total power decreased with increasing conceptional age. Topographic pattern discrimination between different conceptional age groups showed significant differences mainly in the frontal, temporal and occipital regions. It was concluded that regional differences in the development of EEG in premature infants could be clarified by means of topographic EEG analysis and the pattern discrimination method using the autoregressive model.This study was supported by a Scientific Research Grant (No. 02670450) from the Japanese Ministry of Education.     

Radiotelemetry recording of electroencephalogram in piglets during rest

A wireless recording system was developed to study the electroencephalogram (EEG) in unrestrained, male Landrace piglets. Under general anesthesia, ball-tipped silver/silver chloride electrodes for EEG recording were implanted onto the dura matter of the parietal and frontal cortex of the piglets. A pair of miniature preamplifiers and transmitters was then mounted on the surface of the skull. To examine whether other bioelectrical activities interfere with the EEG measurements, an electrocardiogram (ECG) or electromyogram (EMG) of the neck was simultaneously recorded with the EEG. Next, wire electrodes for recording movement of the eyelid were implanted with EEG electrodes, and EEG and eyelid movements were simultaneously measured. Power spectral analysis using a Fast Fourier Transformation (FFT) algorithm indicates that EEG was successfully recorded in unrestrained piglets, at rest, during the daytime in the absence of interference from ECG, EMG or eyelid movements. These data indicate the feasibility of using our radiotelemetry system for measurement of EEG under these conditions.     

基于离散小波变换提取脑机接口中脑电特征

在脑机接口中，针对脑电特征提取利用单一种类信息、使用数据量大、分类性能较差等缺点，提出一种新颖的基于离散小波变换的方法。分析了小波变换特征提取的特点和特征表示方式，用Daubechies类db4小波函数对脑电信号进行6层分解，抽取小波变换各子带关键的部分逼近系数、小波系数、小波子带系数均值组成特征向量。以分类正确率为指标检验了提取特征的性能。实验结果表明，这种方法能够利用少量数据提取脑电信号本质特征，具有较高的分类性能，为利用脑电识别人的不同意图提供了快速而有效的手段。     

THE INTERACTION OF RESPONSES IN THE BRAIN TO SEMANTIC STIMULI

Long time-constant EEG recording during paired stimuli has led to the discovery of the contingent negative variation or expectancy wave (Walter, 1964). This effect is produced when a conditional stimulus signals that an imperative stimulus demanding action, decision, or attention will follow at a short, constant time interval. Symbolic and meaningful stimuli were presented to subjects tachistoscopically, and the evoked responses in the brain were electronically averaged. The cerebral evoked responses to such psychological stimuli are more complex than to flashes. A slow negative DC potential shift (CNV) was seen during the interval between an auditory ready signal and the visual exposure if recognition of the stimulus was required, or if it was interesting. Following the visual exposure, a slow positive DC shift occurred. The method has been developed to study the brain responses to psychological stimuli. The amplitude of the responses relates to the information content and subjective factors rather than to the physical strength of the stimulus.     

儿童失神癫(癎)脑电图的多尺度特征

目的:研究儿童失神癫癎脑电图的多尺度定量特征。方法:对15例失神癫癎患儿10次临床发作和20次亚临床癎样放电的脑电图进行子波分析,提取失神癫癎发作过程中脑电信号的多尺度定量典型特征,与发作前10 s及发作后10 s的脑电信号进行比较,并与12例正常同龄儿童脑电图进行比较。结果:研究显示儿童失神癫癎发作过程中脑电信号的多尺度典型特征主要表现为12尺度(对应频率3 Hz)的节律性活动显著增强,发作时20尺度(低频大尺度,对应频率0．12 Hz)结构与频率3 Hz的结构具有非正常的跳跃式尺度关系,3 Hz节律性棘慢复合波与大尺度(频率1 Hz以下)背景低频放电结构共同存在。发作过程中分尺度功率主要集中在20尺度和12尺度,其演变规律为20尺度能量逐渐减低,12尺度能量逐渐增加。10次临床发作的脑电信号均显示上述特征。发作前10 s和后10 s的脑电多尺度信号中仍然存在隐性的3 Hz棘慢复合波成分,与一般认为3 Hz棘慢复合波突起突止不同．而从传统的脑电图上无法分辨出发作前后的这些多尺度细节的定量特征。亚临床癎样放电的多尺度特征与发作期无明显差别,但持续时间短。结论:子波分析作为一种新的信号分析方法,适合于脑电信号的分析,可以获得比传统视觉脑电图更多的定量信息。通过对失神癫癎患儿的脑电信号进行子波分析,得到其发作过程中典型的多尺度定量特征,有助于失神癫癎发作的临床辅助诊断、预后评价以及神经电生理机理的基础研究。     

基于fMRI加权约束的FOCUSS迭代脑电源定位方法及其初步应用

脑电(Electroencephalography, EEG)和功能磁共振(Functional magnetic resonance imaging, fMRI)技术的结合,可以实现两者优势的互补,获得更加合理的源定位结果.本文报道的是一种将fMRI先验信息结合到脑电源定位中的新方法.在该方法中,先利用SPM方法计算获得fMRI的统计映射参数,然后将基于计算获得的统计参数构造的权矩阵结合到FOCUSS的迭代过程中,对脑电的反演提供具有fMRI先验空间位置信息的约束,提高脑电的源空间定位精度,从而获得更加合理的定位结果.通过对一形状知觉实验fMRI和脑电数据的结合定位分析,结果初步证实了改进方法能获得和生理更加一致的结果.     

Evening administration of melatonin and bright light: Interactions on the EEG during sleep and wakefulness

Both the pineal hormone melatonin and light exposure are considered to play a major role in the circadian regulation of sleep. In a placebo- controlled balanced cross-over design, we investigated the acute effects of exogenous melatonin (5 mg p.o. at 20.40 hours) with or without a 3-h bright light exposure (5000 lux from 21.00 hours–24.00 hours) on subjective sleepiness, internal sleep structure and EEG power density during sleep and wakefulness in healthy young men. The acute effects of melatonin, bright light and their interaction were measured on the first day (treatment day), possible circadian phase shifts were assessed on the post-treatment day. On the treatment day, the evening rise in subjective sleepiness was accelerated after melatonin and protracted during bright light exposure. These effects were also reflected in specific changes of EEG power density in the theta/alpha range during wakefulness. Melatonin shortened and bright light increased sleep latency. REMS latency was reduced after melatonin administration but bright light had no effect. Slow-wave sleep and slow-wave activity during the first non-rapid eye movement (NREMS) episode were suppressed after melatonin administration and rebounded in the second NREMS episode, independent of whether light was co-administered or not. Self rated sleep quality was better after melatonin administration whereas the awakening process was rated as more difficult after bright light. On the post-treatment day after evening bright light, the rise in sleepiness and the onset of sleep were delayed, independent of whether melatonin was co-administered or not. Thus, although acute bright light and melatonin administration affected subjective sleepiness, internal sleep structure and EEG power density during sleep and wakefulness in a additive manner, the phase shifting effect of a single evening bright light exposure could not be blocked by exogenous melatonin