Attitudes toward genetic counseling and prenatal diagnosis among a group of individuals with physical disabilities

Few studies have been published on the attitudes of people with physical disabilities toward genetic counseling and prenatal diagnosis. Articles in the lay press and social science literature on this topic, mainly written by disability rights activists and advocates, imply opposition to prenatal diagnosis and the field of clinical genetics by the physically disabled population. In this study, 15 adults with physical disabilities were interviewed regarding their attitudes toward genetic counseling and prenatal diagnosis. Genetic counseling and prenatal diagnosis were generally viewed favorably by this sample of the disability community. Only a small percentage of the sample perceived genetics to be eugenic. Implications for genetic counseling and future research are discussed.     

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.     

Embodied Knowledge and Making Sense of Prenatal Diagnosis

Open-ended, qualitative interviews with women to whom amniocentesis was offered were analyzed to understand how women made sense of these tests. We found that women, whether tested or not, negotiated with biomedical information. They transformed it through identifiable processes, then wove it with their own instincts and beliefs and with their personal experiences, thereby creating embodied knowledge on which their decisions were based. Women who were and were not tested may have differed from each other when categorized on the basis of a final, binary choice, but they were more alike than unalike in reaching this point. The apparent importance of embodied knowledge suggests the critical role of the listening activities of the genetic counselor and of awareness of the validity and importance of women's complementary ways of knowing and doing in understanding the uses and meanings of prenatal genetic testing.     

筛选性决策和选择性决策的信息利用

在构像理论中,用来证明决策分为筛选和选择两个独立阶段的证据存在于：筛选阶段的信息在选择阶段不再被使用。本研究以构像理论为基础,设计实验室模拟实验,以实验情境中越来越苛刻的限制条件,迫使决策者在选择决策阶段不利用筛选信息,以此来检验决策者在选择决策阶段是否利用筛选信息,以及利用的程度和条件。实验情境的设计遵循这样一个原则：从信息最容易获得,记忆负荷最小的决策情境,过渡到信息最难以获得,记忆负荷最大的决策情境。研究得到以下结论：（1）筛选信息在大部分决策者进行选择性决策的时候得到了利用,用以选择最终的备择项;（2）随着选择决策过程中对于筛选信息的记忆负荷,以及认知负荷的增加,筛选信息在选择阶段被利用的可能性有所减少。     

Some determinants of remote behavioral history effects in humans

Undergraduates were exposed to a series of reinforcement schedules: first, to a fixed-ratio (FR) schedule in the presence of one stimulus and to a differential-reinforcement-of-low-rate (DRL) schedule in the presence of another (multiple FR DRL training), then to a fixed-interval (FI) schedule in the presence of a third stimulus (FI baseline), next to the FI schedule under the stimuli previously correlated with the FR and DRL schedules (multiple FI FI testing), and, finally, to a single session of the multiple FR DRL schedule again (multiple FR DRL testing). Response rates during the multiple FI FI schedule were higher under the former FR stimulus than under the former DRL stimulus. This effect of remote histories was prolonged when either the number of FI-baseline sessions was small or zero, or the time interval between the multiple FR DRL training and the multiple FI FI testing was short. Response rates under these two stimuli converged with continued exposure to the multiple FI FI schedule in most cases, but quickly differentiated when the schedule returned to the multiple FR DRL.     

The role of attitudes towards the targets of behaviour in predicting and informing prenatal testing choices

Research considering the role of attitudes in prenatal testing choices has commonly focused on the relationship between the attitude towards undergoing testing and actual testing behaviour. In contrast, this study focused on the relationship between testing behaviour and attitudes towards the targets of the behaviour (in this case people with Down syndrome (DS) and having a baby with DS). A cross-sectional, prospective survey of 197 pregnant women measured attitudes towards the targets of prenatal testing along with intentions to use screening and diagnostic testing, and the termination of an affected pregnancy. Screening uptake was established via patient records. Although attitudes towards DS and having a baby with DS were significantly associated with screening uptake and testing and termination intentions, unfavourable attitudes were better than favourable ones at predicting these outcomes. For example, in the quartile of women with the ‘most favourable’ attitude towards people with DS 67% used screening although only 8% said they would terminate an affected pregnancy. Qualitative data suggested that not all women considered personal attitudes towards DS to be relevant to their screening decisions. This finding has implications for the way in which informed choice is currently understood and measured in the prenatal testing context.     

Stimulus Equivalence: Effects Of A Default-response Option On Emergence Of Untrained Stimulus Relations

Human subjects were exposed to a concurrent-chains schedule in which reinforcer amounts, delays, or both were varied in the terminal links, and consummatory responses were required to receive points that were later exchangeable for money. Two independent variable-interval 30-s schedules were in effect during the initial links, and delay periods were defined by fixed-time schedules. In Experiment 1, subjects were exposed to three different pairs of reinforcer amounts and delays, and sensitivity to reinforcer amount and delay was determined based on the generalized matching law. The relative responding (choice) of most subjects was more sensitive to reinforcer amount than to reinforcer delay. In Experiment 2, subjects chose between immediate smaller reinforcers and delayed larger reinforcers in five conditions with and without timeout periods that followed a shorter delay, in which reinforcer amounts and delays were combined to make different predictions based on local reinforcement density (i.e., points per delay) or overall reinforcement density (i.e., points per total time). In most conditions, subjects' choices were qualitatively in accord with the predictions from the overall reinforcement density calculated by the ratio of reinforcer amount and total time. Therefore, the overall reinforcement density appears to influence the preference of humans in the present self-control choice situation.