Mapping self-reports of working memory deficits to executive dysfunction in Fragile X Mental Retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS

Fragile X Syndrome is a neurodevelopmental disorder that is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation 1 (FMR1) gene. In recent years, the premutation (“carrier”) status has received considerable attention and there is now an emerging consensus that despite intellectual functioning being within the average range premutation males present with subtle executive function impairments that include poor inhibitory control, working memory deficits, and poor planning skills. The ranges of these skills, although not nearly as severe as seen in the full mutation, nonetheless serve to differentiate males with the premutation from males in the unaffected population. In the present study we extend these findings to suggest that behavioral markers, specifically self-report on the Brown Attention-Deficit Disorder Rating Scales, may serve as a clinically useful indicator or “signature” of the Fragile X Premutation status. We discuss the possibility that this measure provides a means to identify those at greatest risk for developing the newly identified neurodegenerative disorder that affects some premutation males – Fragile X Tremor/Ataxia Syndrome (FXTAS).     

Newborn temperament and Sudden Infant Death Syndrome: A comparison of victims and their cotwins

Temperament assessed in the newborn period was compared for four twin infants who subsequently died of Sudden Infant Death Syndrome (SIDS) and their surviving cotwins. The assessment focused on irritability, resistance to soothing, reactivity, reinforcement value, activity while awake, and activity during sleep. No differences were observed between cotwins on a combined irritability rating. SIDS victims, however, were less irritable than their siblings in response to aversive stimuli. When irritable, the SIDS infants were more difficult to soothe than their cotwins. While awake, SIDS infants were less active than their cotwins, but during sleep, no activity differences were observed. The SIDS infants were more reactive to orienting stimuli, and neither group was found to be more or less rewarding to the examiner. It was concluded that this study has helped to define behavioral variables that might be characteristic of infants whose subsequent deaths are attributed to SIDS.     

The New Biology and its Impact in Biomedical Strategies Against HIV/AIDS

Abstract. The sequencing of the human genome and the initiation of the structural genomics projects have ushered in a new age of biology that involves multi‐lab, high‐cost projects with broad task‐oriented goals rather than the more conventional hypothesis‐driven approach of the past. The new biology has led to the development of new sets of tools for the scientist to use in the quest to solve mysteries of human disease, biomolecular structure‐function relationships, and other burning biological questions. Nevertheless, the impact of the new biology on the field of AIDS investigation has been minimal, predominantly because many of the tools in the HIV field of study were developed before the full advance of the new biology was felt in the biomedical community. Many of the high‐cost megaprojects that involve large technological advances and are marketed as projects of promise to the biomedical community are not likely to significantly impact the field of HIV/AIDS research and cannot serve as a substitute for direct funding to the HIV/AIDS scientists working for vaccine development, an understanding of mechanisms of disease causation, and new tools for therapeutic intervention.     

威廉斯综合症及其研究现状

威廉斯综合症是一种上世纪 60年代才被人类认识的疾病。该病症有特殊的生理、行为和认知异常 ,脑发育伴随着结构和临床异常。本文对国外40年的研究成果进行了总结 ,初步介绍了威廉斯综合症的症状表现、认知特征、行为特征及诊断治疗方面的研究现状 ,最后对该领域的研究提出了展望。     

Arousal and memory: phasic measures of arousal in a free recall task.

EEG alpha activity and skin potential were monitored during word presentation in a single trial free recall task. Phasic changes in EEG alpha and skin potential, co-occurring with word onset, were positively related to recall at an immediate retention interval (2 min) but not after a delay (45 min). The results were interpreted as supporting the extension of Routtenberg's (1968) two-arousal system hypothesis to human memory. Arousal was viewed as affecting memory during the attribute encoding stage of memory storage.     

IMPROVING THE GENERALIZED MNEMONIC PERFORMANCE OF A DOWN'S SYNDROME CHILD1

A training program was conducted to improve the generalized mnemonic performance, or memory, of a Down's Syndrome child. Training was directed at digit-span performance with generalization from training determined by responses to untrained mnemonic performance probes. The digit-span items varied in length from three to five digits. Each length constituted an item class, with each class trained within the framework of a multiple-baseline design. Probes consisted of untrained digit-span items, grammatical sentences, nongrammatical sentences, and match-to-sample items. A training procedure, in which 15 items from each class varied continually from trial to trial and from day to day, resulted in the percentage of correct responses to both training and probe items increasing to levels substantially above baseline. The results demonstrate the effectiveness of the training procedure in improving the generalized mnemonic performance of a Down's Syndrome child.     

An under‐active or over‐active internal world?

This paper explores the dynamics brought into analytic work when there is a symmetric fusion between psyche and soma within the patient. It will consider how such a fusion may emerge from reverberations between physical constitution and a lack of maternal attunement, containment and reflective function. I will describe the work with a patient, Jane, who was diagnosed with Myalgic Encephalomyelitis (ME) during the course of her analysis. The dynamic of her physical symptoms within the analytic work, and the impact of her internal affects and internal 'objects' within the transference and countertransference, indicated a difficulty in finding an homeostatic balance resulting in overactivity and underactivity at both somatic and psychological levels. Using the clinical work with Jane this paper will also examine the interrelationship between mother-infant attachment, an inadequate internalized maternal reflective function, affect dysregulation, unconscious fusion, the lack of psyche-soma differentiation and the impact of the latter in relation to internal regulation systems, or lack of, in patients with Chronic Fatigue Syndrome (CFS) and Myalgic Encephalomyelitis (ME). I will draw on similar work carried out by Holland (1997), Simpson (1997) and Simpson et al. (1997). The paper will also employ the concept of the reflective function (Fonagy 2001; Knox 2003), and consider Matte-Blanco's (1999) concepts of generalization and unconscious symmetry in relation to the patient's internal world. I go on to consider how analysis provides a point outside the 'fusion' that can enable the 'deadlock' to be broken.     

Effects on fathers of children with down syndrome

This study investigated research evidence for eight assertions found in the literature about effects on fathers of children with disabilities. Eighty-seven fathers of children with Down syndrome completed questionnaire instruments designed to measure demographic variables, adaptation, stress, personality, social support and marital functioning. The results provided little support for most of the assertions. It is concluded that the existing literature provides a somewhat erroneous perspective of the experiences of such fathers. These findings reinforce the need for further research specifically with fathers of children with mental retardation.     

The development of contrast constancy

The mature visual system possesses mechanisms that enable invariant perception of the contrast of an object and its features as the object undergoes changes in distance. This phenomenon, which has been called contrast constancy, obtains at suprathreshold contrasts only. Some models of contrast constancy assume the presence of narrowband spatial-frequency channels. An implication of M.S. Banks, B.R. Stephens, and E.E. Hartmann (1985, Journal of Experimental Child Psychology, 40, 501-527) is that contrast constancy should not be observed at 6 weeks but may be observed at 12 weeks. We examined this implication by investigating the development of contrast constancy in 6- and 12-week-old infants. Two sine wave gratings, differing in spatial frequency by a factor of 3, were presented side-by-side. The contrast of one grating was varied in order to estimate the contrast at which preference for the two gratings was equal. The equal preference points for 6-week-olds were predictable from their contrast thresholds. The 12-week-olds' equal preference points for low-contrast stimuli were predictable from their contrast thresholds, but those for intermediate and high-contrast stimuli were not. Thus, if one accepts the assumption that equal preference in infants is analogous to apparent contrast matches in adults, these data imply that contrast constancy is observed at 12 weeks but not 6 weeks. The perceptual consequences of this developmental transition are discussed.     

The role of appraisal purpose: Effects of purpose on information acquisition and utilization

Past research on the role of appraisal purpose in the appraisal decision-making process has concentrated on the motivational role of purpose. Research has found that raters are less willing to give poor ratings when appraisals are to be used for some purposes rather than others. The present paper describes two experiments which explore how appraisal purpose might affect rater cognitive activities as well. The first experiment investigated how appraisal purpose and outcomes affect how raters differentially utilize information to make appraisal decisions. Few differences were found. The second experiment investigated how raters differentially search for performance information to make appraisal decisions for different purposes and outcomes. Raters were found to search for more comparative information when they had to select one of several ratees for some treatment. The results also indicated a discrepancy between how information is collected and how it is used. Implications for defining the role of purpose in the appraisal process, as well as for recent process approaches to performance appraisal, are discussed.