Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Applications of computer-based instruction: using specialized software to aid letter-name and letter-sound recognition

We evaluated computerized training and testing programs with children who were having difficulties learning prereading skills. The programs were derived from equivalence research and were written in authoring software designed for educators. After learning to match uppercase and lowercase printed letters to the corresponding letter names (Tasks 1 and 2), the children matched the letters to one another (Tasks 4 and 5). Then, after learning to match uppercase letters to sounds (Task 3), they also matched lowercase letters to sounds (Task 6) and matched printed to spoken words (Tasks 7 and 8). The results recommend equivalence-based protocols and user-friendly software in further development of prereading instruction.     

An evidential support accumulation model of subjective probability

A model of cue-based probability judgment is developed within the framework of support theory. Cue diagnosticity is evaluated from experience as represented by error-free frequency counts. When presented with a pattern of cues, the diagnostic implications of each cue are assessed independently and then summed to arrive at an assessment of the support for a hypothesis, with greater weight placed on present than on absent cues. The model can also accommodate adjustment of support in light of the baserate or prior probability of a hypothesis. Support for alternatives packed together in a "residual" hypothesis is discounted; fewer cues are consulted in assessing support for alternatives as support for the focal hypothesis increases. Results of fitting this and several alternative models to data from four new multiple-cue probability learning experiments are reported.     

情境理论的迁移观及其教育意义

支撑—活动观、社会共享认知观以及实践共同体观是当前情境理论中具有代表性的迁移观点。这些观点分别从不同的角度强调情境特性对迁移的影响,并主张在常规的学校教育中突出情境、尤其是社会文化与社会实践情境的作用。     

“Mind the gaps”: An empirical approach to engineering ethics, 1997–2001

A survey on ethical issues in engineering was administered over a five-year period to Stanford engineering students and practicing engineers. Analysis of its results strongly suggests that important disconnects exist between the education of engineering students regarding ethical issues in engineering on the one hand, and the realities of contemporary engineering practice on the other. Two noteworthy consequences of these gaps are that the views of engineering students differ substantially over what makes an issue an ethical issue, while practicing engineers exhibit significant disagreement over what is the most important non-technical aspect of being a responsible engineering professional in contemporary society. These divergences impede the recognition of ethical issues and of specific moral responsibilities of engineers in concrete professional practice. It is argued that the use of suitably refined and probing surveys of engineering students and practicing engineers about ethical issues in engineering is an important although neglected empirical approach to the study of engineering ethics. Such an approach can enhance the prevailing case study method and combat over-tidy theoretical-analytical approaches to the subject. When a train arrives at a station in the London Underground, a public announcement cautions passengers to “mind the gap”, i.e. heed the space between the station platform and the carriage while entering or exiting. An early draft of this paper was presented at the International Conference on Ethics in Engineering and Computer Science, Case Western Reserve University, Cleveland, Ohio, March 21–23, 1999.     

循证医学的辩证思维

随着临床医学的发展,临床医生面临着从理论知识加个人经验的医学模式向以科学证据为基础的医学模式转变。越来越多的卫生政策和诊疗指南的制定需要以高质量的研究结果为依据,如随机对照研究的结果,特别是随机对照研究的系统综述结论。循证医学模式要求医生在临床工作中不断提出问题并通过严格的科研设计来回答这些问题,同时强调不断进行知识更新,掌握最新研究证据以指导其临床工作。同时政府部门也鼓励发展循证医疗,因为它可通过研究有效的诊疗手段来提高卫生保健的效率。此外还有迹象表明法律决策过程中要参考是否遵循了研究证据和临床指南。知情的服务对象也促使临床工作者寻求研究证据作为依据,为了提高服务质量并且充分把握特殊专业领域的现状,临床工作者也需要不断了解新的依据信息。在众多的研究信息中,我们应对每项证据的研究方法、研究对象及观察的终点进行认真分析,确定该结论是否真实并适合我们的实际,从而制定有据可查的诊疗方案。     

Resistance as a Problem for Practice and Theory

Resistance is one of the most problematic and potentially counterproductive concepts in the entire field of psychotherapy. It is at the same time one of the most crucial, pointing toward perhaps the single most important factor—or, more accurately, set of factors—in determining the success or failure of the therapeutic enterprise. Drawing on the articles by Davis and Hollon, Prochaska and Prochaska, Reid, and Eagle in this issue, as well as on the author's own perspective, this paper explores this seeming contradiction in order to point toward an integrative resolution of the differing perspectives on resistance and related phenomena.     

How Do Creative Experts Practice New Skills? Exploratory Practice in Breakdancers

How do expert performers practice as they develop creatively? This study investigated the processes involved in the practice of new skills by expert breakdancers. A great deal of evidence supports the theory of “deliberate practice” (Ericsson, Krampe, & Tesch‐Römer, 1993, Psychological Review, 100, 363) in skill acquisition; however, expert creative performers may emphasize other forms of practice for skill development. Four case studies collected through fieldwork and laboratory observation were analyzed to evaluate expert dancers’ practice processes as they developed proficiency in new, specific skills. We focused on three aspects of learning: the degree of skill acquisition, the content of skills included in practice, and dancers’ stated purposes for practicing. The results showed that dancers’ practice improved skills (as suggested by deliberate practice) and engaged the exploration of new, original skills, along with coordinating skills within performance. In their practice, these dance experts went beyond deliberative practice to highly exploratory processes for skill development.