Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders

Fetal alcohol spectrum disorders (FASD) include physical and neurodevelopmental abnormalities related to prenatal alcohol exposure. Some neuroimaging findings have been clearly related to FASD, including corpus callosum and cerebellar anomalies. However, detailed studies correlating with specific FASD categories, that is, the fetal alcohol syndrome (FAS), partial FAS (pFAS) and alcohol related neurodevelopmental disorders (ARND), are lacking. We prospectively performed clinical assessment and brain MR imaging to 72 patients with suspected FASD, and diagnosis was confirmed in 62. The most frequent findings were hypoplasia of the corpus callosum and/or of the cerebellar vermis. Additional findings were vascular anomalies, gliosis, prominent perivascular spaces, occipito-cervical junction and cervical vertebral anomalies, pituitary hypoplasia, arachnoid cysts, and cavum septum pellucidum.     

癫痫患者的脑电图与CT对比研究

目的：探索ＥＥＧ和ＣＴ在癫痫的诊断、分型和病因方面的意义。方法：对１３７９例癫痫进行ＥＥＧ常规描记和脑ＣＴ扫描。结果：１３７９例中原发性癫痫９８５例（７１４３％），继发性癫痫３９４例（２８５７％）。ＣＴ异常率４６１９％；ＥＥＧ异常率７４２６％，痫波检出率２３４７％。ＥＥＧ以局灶性或弥漫性慢波增多为主。ＥＥＧ和ＣＴ的符合率８０９５％。结论：ＥＥＧ对癫痫的分型和原发性癫痫的检出有重要价值，而ＣＴ则是查找继发性癫痫病因的有效方法     

Interventions in fetal alcohol spectrum disorders: An international perspective

Fetal alcohol spectrum disorders (FASD) are present across countries and cultures, with prevalence rates threatening to rise in the coming years. In order to support children and families with FASD around the world, researchers must work to disseminate and implement evidence-based interventions. However, each cultural context presents unique elements and barriers to the implementation process. This review considers the challenges of addressing FASD in an international context. It summarizes existing FASD interventions that have empirical support in the domains of parenting and education, attention and self-regulation, adaptive functioning, and nutrition and medication. It then outlines cultural barriers pertaining to FASD that may impede the implementation process and makes suggestions for using purveyors as cultural liaisons between researchers and local stakeholders. The review concludes with recommendations for moving forward with international dissemination and implementation of FASD interventions.     

耐药性癫痫患者脑组织蛋白酶D的表达及意义

目的：观察耐药性癫痫患者脑组织蛋白酶D（Cath D）的表达，探索其在耐药性癫痫发病机制中的作用。方法:在基因芯片扫描获阳性结果基础上，用逆转录聚合酶链反应（RT-PCR）、免疫组织化学和免疫荧光技术研究耐药性癫痫患者脑组织中Cath D的表达，并与对照组进行比较。结果:耐药性癫痫组与对照组对比，Cath D mRNA表达水平的Cy5/Cy3为0.433，RT-PCR结果与之一致（其相对表达中位数分别为0.3084、0.8370）,其差异均显著(P<0.05)。颞叶和海马神经元的胞体可见Cath D表达，胶质细胞中未见其表达。免疫组织化学显示其在耐药性癫痫颞叶和海马中的表达（0.0609±0.0355，0.0688±0.0250）显著低于对照组（0.1542±0.0223，0.1667±0.0208，P<0.01），免疫荧光结果趋势与之一致。各组内颞叶与海马间Cath D表达无显著差异（P>0.05）。结论:Cath D在耐药性癫痫中表达下降，可能在耐药性癫痫发病机制中起着重要作用。     

Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders

Prenatal alcohol exposure may adversely affect fetal development, causing growth restriction, distinctive craniofacial anomalies, and central nervous system dysfunction. The continuum of associated adverse fetal outcomes is most accurately termed fetal alcohol spectrum disorders (FASD). The purpose of this study was to further clarify the relationship between dysmorphic features and general cognitive capacity in a study on Finnish children with FASD. Forty-eight 8- to 16-year-old children with FASD underwent a dysmorphology examination and an assessment of cognitive capacity. Dysmorphic features and growth deficiency were quantified by assigning each child a total dysmorphology score (TDS). Six subtests from the Wechsler Intelligence Scale for Children (WISC-III) were used for assessment of general cognitive capacity. Our results show a significant correlation between the TDS and cognitive capacity was found, suggesting that children with more severe growth deficiency and dysmorphic features have more cognitive limitations. Birth measures of length and weight correlated with general cognitive capacity. Head circumference correlated only with Performance IQ. These findings imply an inverse relationship between growth deficiency/dysmorphic features and cognitive function in children with FASD. Although the correlations are significant, the data suggest that in individual cases, the TDS cannot reliably predict cognitive function in later life.     

癫(癎)患者抗癫(癎)治疗时脑电图和发作诱因与再发关系

目的:探讨癫癎患者在药物治疗中脑电图、发作诱因与再发的关系,企为临床治疗提供参考指标。方法:分别对97例青少年癫癎患者行脑电图检查并追踪再发情况,比较脑电图、发作诱因与临床再发之间的关系。结果:97例患者中有49例脑电图正常,其中9例(18％)有癫癎再发,48例脑电图异常,其中38例(79％)有癫癎再发。此38例癫癎再发分别属于Ⅰ、Ⅱ、Ⅲ型异常脑电图,相应各有8、11、19例再发。脑电图正常而出现癫癎再发的9例中,有诱因者8例(89％),无诱因者1例(11％),脑电图异常而出现癫癎再发的38例中,有诱因者20例(53％),无诱因者18例(47％)。结论:青少年癫癎患者抗癫癎治疗时的脑电图表现与临床再发有相关性,其中有癎样放电者出现再发可能性最大。脑电图正常时出现再发常有诱因,而脑电图异常时出现再发常缺乏诱因。     

Rural-urban differences in provider practice related to preconception counselling and fetal alcohol spectrum disorders

OBJECTIVE: Fetal alcohol spectrum disorders (FASDs) are the most common form of nongenetic birth defect in North America with devastating, long-term consequences. Physicians are the primary providers of medical care for pregnant women and they play an important role in the prevention and diagnosis of FASD. We sought to determine whether differences exist between rural and urban health care providers in knowledge of, attitudes about and awareness of FASD and preconception counselling. METHODS: Surveys were mailed to a national, random sample of Canadian health care providers (n = 5361) between October 2001 and May 2002. Bivariate data analysis was completed using SPSS 14.0. RESULTS: Compared with their urban counterparts, rural providers were more likely to report being prepared to access resources related to alcohol use and dependency, yet they were less likely to agree that it was the physician's role to manage these issues (78.4% v. 82.8%, p < 0.05). Rural providers were more likely than urban providers to use a standardized tool to screen patients for alcohol use, to ask all pregnant women if they were drinking, to have cared for a patient with an FASD (56.7% v. 48.8%), to agree that providers do not make a diagnosis because of lack of time and training, and to recognize legal issues and inappropriate behaviour as secondary outcomes of FASD. Rural and urban providers were similar in their diagnostic knowledge of FASD. CONCLUSION: Few differences between rural and urban providers exist with regard to knowledge and diagnosis of FASD; however, rural providers are more prepared to access resources for women with addiction issues and are more likely to care for patients with an FASD.     

停止迷走神经刺激术后2年内7例癫癎患者的临床与EEG分析

目的：总结迷走神经刺激术(VNS)对顽固性癫痫的疗效及评价其临床应用的价值。方法：用VNS治疗7例顽固性癫痫患者，治疗期为3年，结束治疗后继续观察2年，共观察5年。整个观察期内患者仍用足量抗癫痫药物。比较治疗前、治疗期及结束治疗后癫痫的发作情况及EEG变化。结果：7例患者在VNS治疗期内5例有效，其中3例发作频率减少25％～50％，2例终止发作，另2例无效。结束VNS治疗后原有效的3例中，2例发作加重，1例发作类型改变，发作次数增加，但强度减轻；2例终止发作者中1例目前仍未发作，另1例癫痫复发。EEG情况与临床相一致，当癫痫发作被控制时，EEG明显好转，棘(尖)慢复合波减少。癫痫复发时EEG会出现相应的痫样放电。7例患者在结束随访的第五年，有6例EEG仍明显异常，有棘(尖)或棘(尖)慢复合波。结论：VNS治疗顽固性癫痫具有安全性，且治疗期间有一定的疗效，但由于其对发作的完全控制率低，停止刺激后易复发，且费用昂贵，很难作为一种令人满意的治疗方法。     

18例复杂部分性癫痫发作患者同步录像脑电图监测报告

目的：探讨同步录像脑电图（Video-EEG）在复杂部分性癫痫发作诊断中的应用价值。方法：利用ZN8000型EEG仪对临床确诊的18例复杂部分性发作患者进行脑电和行为监测,监测时间2．5～28h平均用18.8h。结果：共监测到93次临床发作,睡眠中发作54次,清醒时发作39次,发作持续时间7～120s,平均34．8s。发作时的临床表现：双眼向前或向一侧凝视11例,头向一侧转动9例,一侧面部或肢体抽搐9例,行为或口咽自动症6例,精神症状5例,姿势性发作5例,对发作过程不能回忆15例。发作期EEG示癫病样放电（棘波、尖波、棘慢、尖慢综合波）12例,阵发性高幅慢波5例,未见异常1例,EEG异常率95％。发作间期EEG示中高幅阵发性慢波3例,阵发性痫样放电9例,未见异常6例,EEG异常率65％。结论：Video－EEG对复杂部分性癫痫发作有重要诊断价值,痫样放电与临床发作密切相关。     

老年人迟发性癫Xian发作的临床及脑电图分析

目的：探讨老年人迟发性癫Xian发作的临床及脑电图特点。方法：回顾性分析80例老年人迟发性癫Xian的临床及脑电图资料。结果：癫Xian发作的可能因为脑血管病41例（脑梗死30例、脑出血11例）,脑肿瘤19例,脑外伤4例,脑萎缩8例。癫Xian发作的类型为全身强直阵挛发作48例;强直阵挛发作持续状态2例,失神发作6例,单纯运动性发作17例,单纯体感性发作7例。脑电图正常7例,异常73例。异常脑电图主要表现为弥漫性慢波活动22例,局限于一侧半球的慢波活动34例,散在或阵发性棘波、尖波或棘慢、尖慢综合波49例。结论：脑血管病（脑梗死、脑出血）、脑肿瘤是老年迟发性癫Xian发作的主要原因。癫Xian发作以全身强直阵挛发作为主。脑电图异常率高,主要表现为在弥漫性慢波活动基础上出现癫Xian样放电。     

女性癫患者月经周期与临床发作和脑电图特点分析

&&女性癫患者月经周期与临床发作和脑电图特点分析@金一焕 @崔梅花 @李雄杰&&     

Brief report: lie-telling in children with fetal alcohol spectrum disorder

Objectives The lie-telling abilities of children with fetalalcohol spectrum disorder (FASD) (aged 4–8 years) weretested using a temptation resistance paradigm. Methods Childrenwere told not to peek at a forbidden toy while left alone ina room. Later children were asked if they peeked at the toyas well as follow-up questions to see if they could concealtheir peeking behavior and maintain their lie in subsequentverbal statements. Results Approximately 78% of thechildren peeked at the toy. However, 94% of the FASD childrenlied about peeking, a rate that is much higher than the non-FASDcontrol group (72%). As age increased, FASD children were betterat concealing their lies and maintaining semantic leakage controlthan non-FASD children. Conclusions This is the firststudy to specifically test lying in children with FASD and hasimplications for remediation and understanding secondary disabilitiesin these children, which will lead to further research in thisarea.     

慢性酒精中毒患者的临床与电生理研究

目的:观察电生理检测对慢性酒精中毒的诊断价值.方法:对36例慢性酒精中毒患者的临床特征进行了分析,并作脑电图(EEG)、脑干诱发电位(BAEP)、神经电图(NCV)及肌电图(EMG)的检测和分析.结果:36例慢性酒精中毒患者的EEG异常27例(75%),EEG改变以弥漫性慢波增多为主.患者的EEG异常程度与饮酒量、饮酒年限呈正比关系.BAEP异常26例(72.2%),EMG检查综合判断提示神经源性损害.MCV异常率为63.9%,SCV异常率为83.3%.结论:应用电生理检测能全面反映慢性酒精中毒引起的中枢和周围神经系统的弥漫性损害,为临床提供客观指标.     

39例复杂部分性发作癫灶的PET与EEG定位诊断比较

目的 :探讨临床表现不同的癫复杂部分性发作 (CPS)与正电子发射断层扫描 (PET)检查病灶定位的相关性。方法 :39例CPS病人经PET、磁共振成像 (MRI)、录像 脑电监测 (Video EEG)检查 ,并对各种检查和临床表现进行比较分析。结果 :PET和EEG二者完全符合和部分符合均为 31% ,15例不符病例中 ,12例为PET有定位价值而EEG不能定位。仅表现为复杂部分性发作而无继发性全身性强直阵挛发作 (GS)者的 71%的病例 ,PET定位于单侧颞叶 ,表现为CPS继发GS者的 81%为颞顶、颞枕区病灶。结论 :CPS不继发全身性发作的患者 ,病灶多局限于一侧颞叶 ,如发作期和发作间期脑电图均正常 ,更应考虑病灶位于颞叶内侧面 ,或边缘系统 ;CPS继发GS的患者病灶多位于颞叶外侧面与顶、枕交界区。     

468例癫癎患者睡眠期癎样放电与睡眠结构变化分析

目的：观察癫 患者的睡眠时相与 样放电的关系,并初步探讨癫 异常脑波活动对睡眠的影响。方法：对４６８例癫　患者进行２４小时动态脑电图（ＡＥＥＧ）监测,观察发作间期清醒与睡眠脑电图　样放电的发作频率,分析５８例癫　患者及对照组睡眠脑电图中睡眠时程、觉醒次数、睡眠纺锤波的变化。结果：４６８例患者中出现　样放电３６２例,睡眠期　样放电检出率８８％,觉醒期检出率５８％。样放电主要出现于ＮＲＥＭ睡眠Ⅰ－Ⅱ期。与对照组比较,癫　组ＮＲＥＭ　Ⅰ－Ⅱ睡眠期延长,ＮＲＥＭ Ⅲ－Ⅳ期缩短;觉醒次数增加,觉醒次数与　样放电频率呈正相关;并有睡眠纺锤波减少及不对称。结论：癫　患者的　样放电主要出现于ＮＲＥＭ睡眠Ⅰ－Ⅱ期,癫　活动对睡眠有一定影响,癫　患者睡眠质量下降。     

Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders

The characteristics of fetal acohol spectrum disorders (FASD) constitute a specific facial phenotype, growth failure and neurodevelopmental defects. Reported FASD prevalences vary widely from 0.08 per 1,000 up to 68.0–89.2 per 1,000. We aimed to evaluate to which extent children referred with a suspicion of FASD, indeed have FASD. We included all 27 children referred to our genetic department with a suspicion of FASD between 2005 and 2010. Nineteen children (70.3%) were of non‐Dutch ancestry, and 24 (88.9%) had been adopted. We used both the 4‐Digit Code and the Revised Institute of Medicine criteria. More than half of the children did not meet either criteria for the diagnosis of FASD. Of note, after evaluation 8/27 children appeared not to have confirmed prenatal alcohol exposure. Two children referred for suspicion of FASD (neither of which were exposed to alcohol or met the criteria for FASD) had a pathogenic microstructural chromosomal rearrangement (del16p11.2 of 542 KB and dup1q44 of 915 KB). In 22/24 children (91.7%) there were other factors that may have affected their intellectual abilities, such as familial intellectual disability and social deprivation. We recommend a critical approach towards the diagnosis FASD, and to investigate all patients suspected to have FASD for other causative factors including genetic abnormalities. © 2013 Wiley Periodicals, Inc.     

Estimating daytime sleepiness with previous night electroencephalography,electrooculography, and electromyography spectrograms in patients with suspected sleep apnea using a convolutional neural network

A common symptom of obstructive sleep apnea (OSA) is excessive daytime sleepiness (EDS). The gold standard test for EDS is the multiple sleep latency test (MSLT). However, due to its high cost, MSLT is not routinely conducted for OSA patients and EDS is instead evaluated using sleep questionnaires. This is problematic however, since sleep questionnaires are subjective and correlate poorly with the MSLT. Therefore, new objective tools are needed for reliable evaluation of EDS. The aim of this study was to test our hypothesis that EDS can be estimated with neural network analysis of previous night polysomnographic signals. We trained a convolutional neural network (CNN) classifier using electroencephalography, electrooculography, and chin electromyography signals from 2,014 patients with suspected OSA. The CNN was trained to classify the patients into four sleepiness categories based on their mean sleep latency (MSL); severe (MSL < 5min), moderate (5 ≤ MSL < 10), mild (10 ≤ MSL < 15), and normal (MSL ≥ 15). The CNN classified patients to the four sleepiness categories with an overall accuracy of 60.6% and Cohen’s kappa value of 0.464. In two-group classification scheme with sleepy (MSL < 10 min) and non-sleepy (MSL ≥ 10) patients, the CNN achieved an accuracy of 77.2%, with sensitivity of 76.5%, and specificity of 77.9%. Our results show that previous night’s polysomnographic signals can be used for objective estimation of EDS with at least moderate accuracy. Since the diagnosis of OSA is currently confirmed by polysomnography, the classifier could be used simultaneously to get an objective estimate of the daytime sleepiness with minimal extra workload.     

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study

PurposeDysregulation of RAS or its major effector pathway is the molecular mechanism of RASopathies, a group of multisystemic congenital disorders. Neurologic complications are especially challenging in the management of the rare RASopathy cardiofaciocutaneous (CFC) syndrome. This study evaluated clinical neurologic and neurodevelopmental features and their associations with CFC syndrome gene variants.MethodsA multinational cohort of 138 individuals with CFC syndrome (BRAF = 90, MAP2K1 = 36, MAP2K2 = 10, KRAS = 2) was recruited. Neurologic presentation was captured via clinician review of medical records and caregiver-completed electronic surveys. Validated measures of seizure severity, adaptive function, and gross motor function were obtained.ResultsThe overall frequency of intellectual disability and seizures was 82% and 55%, respectively. The frequency and severity of seizures was higher among individuals with BRAF or MAP2K1 variants than in those with MAP2K2 variants. A disproportionate incidence of severe, treatment-resistant seizures was observed in patients with variants in the catalytic protein kinase domain of BRAF and at the common p.Y130 site of MAP2K1. Neurodevelopmental outcomes were associated with genotype as well as seizure severity.ConclusionMolecular genetic testing can aid in prediction of epilepsy and neurodevelopmental phenotypes in CFC syndrome. Study results identified potential CFC syndrome-associated variants in the development of relevant animal models for neurologic, neurocognitive, and motor function impairment.