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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). 相似文献
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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. 相似文献
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Gayle E. Woloschak 《Zygon》2004,39(2):481-486
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. 相似文献
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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. 相似文献
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Driver C 《The Journal of analytical psychology》2005,50(2):155-173
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. 相似文献
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Garry Hornby Ph.D. 《Journal of child and family studies》1995,4(2):239-255
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. 相似文献
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《European Journal of Developmental Psychology》2013,10(1):85-98
Autism spectrum conditions, among them Asperger Syndrome (AS), are generally described as entailing deficits in “cognitive empathy” or “theory of mind”. People with AS tend to have difficulties recognizing emotions, although the extent of these difficulties is still unclear. This study aimed to assess empathic profile in youth with AS (N = 38) and controls matched on age, sex and IQ. The study aimed to test if a dissociation between cognitive and affective empathy exists in AS. The study also aimed to explore emotion recognition in people with AS, and how it relates to emotional valence (positive, negative, and neutral emotions). The AS group scored lower than controls on cognitive empathy but scored within the average range on affective empathy. A deficit in emotion recognition was found in the AS group for positive emotions. These results confirm earlier findings in cognitive empathy and provide new insight about emotion recognition abilities in this population. 相似文献
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In this article, we report on the findings of a qualitative inquiry into how an online message board for people who have Complex Regional Pain Syndrome (CRPS) was used by its members. All messages (and responses) posted on the CRPS message board over a 4-month period were collected retrospectively. The data were analysed using the method of Interpretative Phenomenological Analysis. Members used the message board to seek (and provide) support to those with CRPS, and also to express their emotions, feelings and experiences linked to their condition. The message board provided an important source of support for a patient group that can otherwise become isolated as a result of their mobility problems. Furthermore, the analysis revealed the unrealistic hopes that patients can hold concerning the anticipated outcomes of their treatment. This is an important issue for healthcare professionals to explicitly address when interacting with the patient group. 相似文献