Longitudinal Changes in Intellectual Development in Children with Fragile X Syndrome

Structural equation modeling (SEM) was used to examine the development of intellectual functioning in 145 school-age pairs of siblings. Each pair included one child with Fragile X syndrome (FXS) and one unaffected sibling. All pairs of children were evaluated on the Wechsler Intelligence Scale for Children-Third Edition (WISC-III) at time 1 and 80 pairs of children received a second evaluation at time 2 approximately 4 years later. Compared to their unaffected siblings, children with FXS obtained significantly lower percentage correct scores on all subtests of the WISC at both time points. During the time between the first and second assessments, the annual rate of intellectual development was approximately 2.2 times faster in the unaffected children compared to the children with FXS. Levels of the fragile X mental retardation protein (FMRP) were highly associated with intellectual ability scores of the children with FXS at both time points (r=0.55 and 0.64 respectively). However, when gender, age, and the time between assessments were included as covariates in the structural equation model, FMRP accounted for only 5% of the variance in intellectual ability scores at time 1 and 13% of the variance at time 2. The results of this study suggest that slower learning contributes to the low and declining standardized IQ scores observed in children with FXS.     

从中西医结合角度探讨代谢综合征

代谢综合征的发生、发展、变化错综复杂,中医的病因病机学说有很多包括脾胃功能失常、肝失疏泄、痰浊瘀血阻滞等。由于老年人抗病能力和修复能力低下,往往同时合并多种其他病变。所以,在辨证研究上需要一个标准化的、符合实际情况的、临床可行的分型。由于目前的中医临床研究的深度和广度还不足以产生一个辨证分型的方案,所以可分期对待,在分期的基础上进一步辨证论治。治疗的重点在于纠正代谢紊乱,改善和延缓合并症的发生及发展。中医学整体调整的理念和中药中的多种成分的多重作用,有利于多因素多系统病变的防治。中药可通过不同途径和环节改善胰岛素敏感性,在防治代谢综合征方面可能有着广阔的前景。     

Working memory impairment in people with Williams syndrome: Effects of delay, task and stimuli

Williams syndrome (WS) is a neurodevelopmental disorder associated with impaired visuospatial representations subserved by the dorsal stream and relatively strong object recognition abilities subserved by the ventral stream. There is conflicting evidence on whether this uneven pattern in WS extends to working memory (WM). The present studies provide a new perspective, testing WM for a single stimulus using a delayed recognition paradigm in individuals with WS and typically developing children matched for mental age (MA matches). In three experiments, participants judged whether a second stimulus ‘matched’ an initial sample, either in location or identity. We first examined memory for faces, houses and locations using a 5 s delay (Experiment 1) and a 2 s delay (Experiment 2). We then tested memory for human faces, houses, cat faces, and shoes with a 2 s delay using a new set of stimuli that were better controlled for expression, hairline and orientation (Experiment 3). With the 5 s delay (Experiment 1), the WS group was impaired overall compared to MA matches. While participants with WS tended to perform more poorly than MA matches with the 2 s delay, they also exhibited an uneven profile compared to MA matches. Face recognition was relatively preserved in WS with friendly faces (Experiment 2) but not when the faces had a neutral expression and were less natural looking (Experiment 3). Experiment 3 indicated that memory for object identity was relatively stronger than memory for location in WS. These findings reveal an overall WM impairment in WS that can be overcome under some conditions. Abnormalities in the parietal lobe/dorsal stream in WS may damage not only the representation of spatial location but may also impact WM for visual stimuli more generally.     

EMPATHY AND THE EXTENDED MIND

I draw upon the conceptual resources of the extended mind thesis (EM) to analyze empathy and interpersonal understanding. Against the dominant mentalistic paradigm, I argue that empathy is fundamentally an extended bodily activity and that much of our social understanding happens outside of the head. First, I look at how the two dominant models of interpersonal understanding, theory theory and simulation theory, portray the cognitive link between folk psychology and empathy. Next, I challenge their internalist orthodoxy and offer an alternative "extended" characterization of empathy. In support of this characterization, I analyze some narratives of individuals with Moebius syndrome, a kind of expressive deficit resulting from bilateral facial paralysis. I conclude by discussing how a Zen Buddhist ethics of responsiveness is helpful for articulating the practical significance of an extended, body-based account of empathy.     

论中医的辨证论治与肿瘤的分子靶向治疗

辨证论治是中医认识和治疗疾病的基本原则,“同病异治”和“异病同治”是辨证论治的精神实质。恶性肿瘤的分子靶向治疗在很多方面都贯彻了“辨证论治”观念,将所辨的证候落实到受体、基因和各种调控系统上。尽管两者理论基础完全不同,但都强调以患者为中心的综合治疗和个体化治疗理念,对建立正确的临床思维非常重要。     

Affect, Social Behavior, and the Brain in Williams Syndrome

ABSTRACT— Williams syndrome (WS) is a rare genetic disorder characterized by intellectual impairment and a distinctive physical and neuropsychological profile. Relative to their level of intellectual functioning, individuals with WS exhibit strengths in language and face recognition, with deficits in visual-spatial cognition. A heightened appetitive drive toward social interaction is a strong behavioral feature. Relative to other neurodevelopmental disorders, WS has a clearly defined genetic basis, together with a consistent neurocognitive profile of strengths and deficits. Thus, this disorder offers unique opportunities for elucidating gene–brain–behavior relationships. We focus on manifestations of the unusual social profile in WS, by examining data within and across levels of cognition, brain, and molecular genetics.     

神经内分泌系统与多囊卵巢综合征

精神、心理因素会引起神经递质的改变,神经递质的变化又能引起促性腺激素的分泌异常,以神经递质作为桥梁,研究精神、心理因素与多囊卵巢综合征(PCOS)的关系。精神、心理因素使体内多巴胺、去甲肾上腺素、β-内啡肽及5-羟色胺的含量变化,从而影响促性腺激素释放激素及黄体生成素的水平。因此,精神、心理因素是PCOS的重要诱因,而PCOS又加重心理障碍。     

肺保护策略机械通气的再评价

通常认为急性肺损伤/急性呼吸窘迫综合征(ALI/ARDS)患者应用肺保护策略机械通气可降低病死率,主要由于潮气量的降低。对已发表的随机对照研究再次分析,发现平台压与患者病死率明显相关。平台压低于30cmH2O时,潮气量可以在一定范围内增加,不影响患者预后。但选择小潮气量可能对病人有害。随机对照研究在试验设计、统计学分析、病人同质性等方面依然存在很多问题。从现有资料看,潮气量和平台压都很重要。     

恶性肿瘤皮肤表现

恶性肿瘤皮肤表现可分为肿瘤直接效应与间接效应。直接效应是指恶性肿瘤或其转移灶生长影响周围器官或组织正常功能;间接效应是指恶性肿瘤或其转移灶经复杂生物学效应影响远处器官或组织正常功能,也称为副肿瘤性皮肤病。恶性肿瘤皮肤表现发病率根据原发肿瘤而束同,可能是患者潜在肿瘤首发临床表现,并且与肿瘤复发转移相关。     

Intonation and Emotion in Autistic Spectrum Disorders

The classic picture of an autistic individual includes an impoverished ability to interpret or express emotion. The prosody of spoken language in autistic children is thought to lack emotional content. In this study, the verbal intonation of children with autism was examined and compared to that of children with Asperger Syndrome (AS) and normal controls (ctrl). Utterances elicited by repetition and by spontaneous story completion were analyzed by quantifying phonetic features (pitch, amplitude, and length) and comparing them to subjective ratings of produced emotion (happy, sad or angry). Since the most consistent phonetic correlate of these emotional targets has been demonstrated to be pitch range, speakers with autistic spectrum disorders were expected to have decreased pitch range; however in the repetition task, autistic subjects actually had a larger pitch range than the other groups. Other measures of intonation including amplitude, duration, and location of pitch peak revealed defects that are more complex than predicted. In spontaneous speech, autistic subjects performed more poorly on both phonetic targets and subjective ratings than ctrls, and AS subjects fell between autistics and normals.