Neuropsychological characteristics of Italian children with fetal alcohol spectrum disorders

Background: Children with fetal alcohol spectrum disorders (FASD) display many problems ranging from deficits in intelligence to behavioral difficulties. Thus, many studies have aimed at defining the neuropsychological characteristics of children with FASD. The current article describes the neuropsychological characteristics of Italian children with severe diagnosis within FASD and compares them with controls. It was expected that intellectual functioning, language comprehension, academic skills, and inattention/hyperactivity would discriminate children with FASD from randomly selected peers without FASD. Methods: This article presents data from a second cohort of children examined in 2005 as part of an in‐school epidemiological study of FASD in Italy. Of 80 children, 23 diagnosed with a FASD, and 57 randomly selected control children from the same first‐grade classes, participated. After screening for FASD via growth and dysmorphology, the children were administered a test of general intelligence (WISC‐R) as well as tests of nonverbal reasoning (Raven Colored Progressive Matrices), language comprehension (Rustioni), academic achievement (IPDA), and problem behavior (Disruptive Behavior Disorder Rating Scale). Results: Children diagnosed with a FASD achieved lower scores than control children on Verbal, Performance, and Full Scale IQ. Profile analysis of the WISC‐R indicates overall differences between the groups. However, some intact functioning within the FASD group was found, as the Similarities and Vocabulary subtests were similar to the controls. After an alpha adjustment to 0.004, the Block Design, Object Assembly, and Mazes subtests were significantly different from controls. On tests of nonverbal reasoning, language comprehension, and academic achievement, the children with a FASD scored significantly lower. Moreover, teachers rated children with a severe diagnosis within FASD as showing more inattentive symptoms than controls, while hyperactive/impulsive characteristics among children with a FASD were comparable with the control children. Significant correlations between head circumference, child dysmorphology, WISC‐R, and Raven CPM scores are also reported. Conclusions: This study indicates that a sample of Italian children with a FASD, when compared with control children, display poorer functioning on measures of general intelligence, nonverbal reasoning, academic achievement, and teacher‐rated problem behaviors. The findings also contribute to the formulation of a neuropsychological profile of children diagnosed with a FASD.     

右位主动脉弓胎儿超声心动图诊断分析

目的总结右位主动脉弓胎儿超声心动图表现及其血管特征.方法对26例超声心动图诊断为右位主动脉弓胎儿的超声心动图表现进行总结分析并观察其临床结局.结果26例右位主动脉弓胎儿中12例为孤立右位主动脉弓,2例为双主动脉弓,2例合并永存左上腔静脉,7例合并法洛四联症,3例合并永存动脉干.26例右位主动脉弓胎儿超声心动图均在上纵隔三血管气管观作出诊断.其中21例为右位主动脉弓合并迷走左锁骨下动脉、左位动脉导管,形成围绕气管食管的“U”字形血管环;2例双主动脉弓形成围绕气管食管的“O”字形血管环;3例无上述典型超声心动图图像特征.26例中12例活产儿经产后超声心动图或X线检查证实为右位主动脉弓;2例双主动脉弓经外院胎儿磁共振检查证实为右位主动脉弓;10例合并复杂先天性心脏病的胎儿均引产(6例尸体解剖检查证实为右位主动脉弓,4例未行尸体解剖检查);2例失访.结论胎儿右位主动脉弓有特征性超声表现,上纵隔三血管气管观可作为诊断胎儿右位主动脉弓的主要切面观;右位主动脉弓可孤立存在或同时合并其他心脏畸形.     

双抗体夹心ELISA检测人胎儿血红蛋白体系的建立

目的建立一种定量检测人胎儿血红蛋白(HbF)的双抗体夹心ELISA方法。方法用抗人HbF单抗作为捕获抗体,加入待测抗原,检测抗体为兔抗人HbF多克隆抗体,最后加入辣根过氧化物酶标记的羊抗兔IgG。结果本检测体系灵敏度约为0.039μg/ml,测量范围0.039-24.66μg/ml,特异性强,重复性好,100份血标本的检测结果与高效液相色谱法结果符合率高。结论建立了一种可用于检测人外周血HbF的双抗体夹心ELISA方法,有望为临床上诊断某些与HbF有关的疾病提供帮助。     

促肾上腺皮质激素释放激素联合胎儿纤维连接蛋白检测对早产的预测价值

目的 探讨孕妇血浆促肾上腺皮质激素释放激素(CRH)及阴道分泌物中胎儿纤维连接蛋白(fFN)检测联合宫颈长度测量对预测早产的临床价值.方法 采集2009年12月至2010年12月来我院查体孕妇的血浆及阴道分泌物,应用ELISA方法检测CRH和fFN,观察其在妊娠不同时间的变化,并结合不同妊娠结局(早产与足月产)进行分析.结果 112例孕妇早产54例,足月产58例.早产组妊娠24周时宫颈管长度为(2.8±0.4) cm,足月产组为(3.3±0.5) cm,差异有统计学意义(t=3.254,P=0.021).早产组与足月产组妊娠28～ 30周、31 ～32周、33 ～34周、35 ～36周血浆CRH分别为(162.33±16.49)、(60.01±14.56) ng/L,( 352.12±61.01)、(118.04±53.74) ng/L,(364.55±56.71)、(122.95±71.41) ng/L,(372.78±149.89)、(124.00±19.05)ng/L,差异均有统计学意义(t值分别为3.687、6.875、8.652、8.524,P均＜0.05).CRH、fFN联合宫颈长度测定预测早产均有较好的灵敏度(97.92％)、特异度(90.00％)、阳性预测值(95.92％)和阴性预测值(94.73％).结论 检测孕妇CRH、ffN联合宫颈长度测量可以提高对早产的预测性,为早产的早期诊断与治疗提供良好、可靠的临床依据.     

围产外科进展

围产外科涵盖胎儿外科、产时(Exit)外科和产房外科,涉及新生儿外科、产科、新生儿内科等诸多学科,并与围产医学、遗传基因学、人体发生学、麻醉科学、心动超声学、影像医学、护理学、生物伦理学等众多学科发生交叉和合作。正确的产前检查和诊断,准确的术前评估和适应证的选择十分重要,多学科之间的密切协作和支持必不可少。我国围产外科刚刚起步,面临着发展机遇和诸多挑战。     

胎儿肺囊腺瘤畸形的产前超声诊断与分型

目的探讨胎儿肺囊腺瘤畸形(CAML)产前超声分型特征及临床价值.方法 对41例产前超声诊断为肺囊腺瘤畸形胎儿的超声声像图表现进行回顾性分析并分型,41例均随访至引产或出生.结果 (1)肿瘤部位:41例胎儿肺囊腺瘤畸形发生在左侧22例,右侧15例,双侧4例.(2)产前超声分型诊断:Ⅰ型3例,Ⅱ型14例,Ⅲ型24例.(3)病理诊断:41例中32例引产,尸检病理诊断为肺囊腺瘤29例,3例隔离肺产前超声误诊为肺囊腺瘤Ⅲ型.(4)41例中9例随访至出生(3例肿块逐渐减小消失,6例出生后CT证实为肺囊腺瘤),产前超声分型与产后诊断均符合.(5)产前超声诊断胎儿肺囊腺瘤畸形与病理诊断和出生儿随访诊断符合率为92.7%(38/41),误诊率为7.3%(3/41).结论 胎儿肺囊腺瘤畸形产前超声诊断及分型诊断准确率高,是产前早期发现胎儿肺囊腺瘤畸形的首要检查方法,有重要临床意义,但隔离肺易误诊为肺囊腺瘤Ⅲ型,应注意鉴别.     

产前超声对胎儿畸形的诊断价值

目的 探讨产前超声对胎儿畸形的诊断价值.方法 常规产前超声检查出畸形胎儿76例,并与引产后尸体解剖结果进行对照分析.结果 76例胎儿畸形中,单发畸形54例,占71.1%,多发畸形22例,占28.9%.产前超声检出畸形90处,产后诊断畸形126处,检出率71.4%.结论 产前超声检查对筛查胎儿畸形具有重要临床意义.     

Maternal oral intake mouse model for fetal alcohol spectrum disorders: ocular defects as a measure of effect

BACKGROUND: This work was conducted in an effort to establish an oral intake model system in which the effects of ethanol insult that occur during early stages of embryogenesis can be easily examined and in which agents that may modulate ethanol's teratogenicity can be readily tested in vivo. The model system described utilizes the alcohol deprivation effect to obtain teratogenic levels of maternal ethanol intake on days 7 and 8 of pregnancy in C57Bl/6J mice. Ocular defects including microphthalmia and uveal coloboma, which have previously been shown to result from ethanol administered by gavage or via intraperitoneal injection on these days, served as the developmental end point for this study. The ocular defects are readily identifiable and their degree of severity is expected to correlate with concurrently developing defects of the central nervous system (CNS). METHODS: Female C57Bl/6J mice were maintained on an ethanol-containing (4.8% v/v) liquid diet for 14 days and then mated during a subsequent abstinence period. Mice were then reexposed to ethanol on days 7 and 8 of pregnancy only. Control as well as ethanol-exposed dams were killed on their 14th day of pregnancy. Fetuses were then weighed, measured for crown rump length, photographed, and analyzed for ocular abnormalities. Globe size, palpebral fissure length, and pupil size and shape were noted for both the right and left eyes of all fetuses and informative comparisons were made. RESULTS: This exposure paradigm resulted in peak maternal blood alcohol concentrations that ranged from 170 to 220 mg/dL on gestational day (GD) 8. Compared with the GD 14 fetuses from the normal control group, the pair-fed, acquisition controls, as well as the ethanol-exposed fetuses, were developmentally delayed and had reduced weights. Confirming previous studies, comparison of similarly staged control and treated GD 8 embryos illustrated reductions in the size of the forebrain in the latter. Subsequent ocular malformations were noted in 33% of the right eyes and 25% of the left eyes of the 103 GD 14 ethanol-exposed fetuses examined. This incidence of defects is twice that observed in the control groups. Additionally, it was found that the palpebral fissure length is directly correlated with globe size. CONCLUSIONS: The high incidence of readily identifiable ocular malformations produced by oral ethanol intake in this model and their relevance to human fetal alcohol spectrum disorders (FASD) makes this an excellent system for utilization in experiments involving factors administered to the embryo that might alter ethanol's teratogenic effects. Additionally, the fact that early ethanol insult yields ocular and forebrain abnormalities that are developmentally associated allows efficient specimen selection for subsequent detailed analyses of CNS effects in this in vivo mammalian FASD model.     

Implicit strategy affects learning in children with heavy prenatal alcohol exposure

BACKGROUND: Learning and memory deficits are commonly reported in children with heavy prenatal alcohol exposure. Our recent work suggested that children with heavy prenatal alcohol exposure retained information as well as controls on a verbal learning test but not on a test of nonverbal learning and memory. To better understand the cause of this differential pattern of performance, the current study re-analyzed data from our previous study to determine if the presence of an implicit learning strategy may account, at least in part, for the finding of spared retention. METHODS: The current study examined verbal learning and memory abilities in 35 children with Fetal Alcohol Spectrum Disorders (FASD) and 34 nonexposed controls (CON) matched for age (9-16 years), sex, ethnicity, handedness, and socioeconomic status. Groups were compared on two measures of verbal learning, one with an implicit strategy (California Verbal Learning Test-Children's Version; CVLT-C) and one without (Verbal Learning subtest of the Wide Range Assessment of Memory and Learning; VL-WRAML). RESULTS: Children with FASD learned less information overall than children in the CON group. Both groups learned a greater percentage of information and reached a learning plateau earlier on the CVLT-C compared with the VL-WRAML. Groups also showed comparable rates of retention after a delay on the CVLT-C. In contrast, on the VL-WRAML, children with FASD showed poorer retention rates than children in the CON group. Interestingly, children with FASD did not differ from children in the CON group on CVLT-C semantic clustering scores for learning trials 1 through 3, and greater utilization of semantic clustering was correlated with better learning and memory performance in both groups. This overall pattern of results was not related to overall intellectual level. CONCLUSIONS: The finding of spared retention of verbal information on the CVLT-C in our earlier studies may be related to test characteristics of the CVLT-C rather than a finding of spared verbal retention per se, given that spared retention was not found on a separate test of verbal learning and memory without an implicit learning strategy. These results suggest that the use of an implicit strategy positively affected the ability of alcohol-exposed children to learn and retain new verbal information.