Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications

Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation.     

Simultaneous auditory discrimination.

Stimuli in many visual stimulus control studies typically are presented simultaneously; in contrast the stimuli in auditory discrimination studies are presented successively. Many everyday auditory stimuli that control responding occur simultaneously. This suggests that simultaneous auditory discriminations should be readily acquired. The purpose of the present experiment was to train rats in a simultaneous auditory discrimination. The apparatus consisted of a cage with two response levers mounted on one wall and a speaker mounted adjacent to each lever. A feeder was mounted on the opposite wall. In a go-right/go-left procedure, two stimuli were presented on each trial, a wide-band noise burst through one speaker and a 2-kHz complex signal through the other. The stimuli alternated randomly from side to side across trials, and the stimulus correlated with reinforcement for presses varied across subjects. The rats acquired the discrimination in 400 to 700 trials, and no response position preference developed during acquisition. The ease with which the simultaneous discrimination was acquired suggests that procedures, such as matching to sample, that require simultaneous presentation of stimuli can be used with auditory stimuli in animals having poor vision.     

Facial reactions to auditory stimuli: Sex differences

This study explored whether males and females differ in facial muscle activity when exposed to tone stimuli with different intensity. Males and females were repeatedly exposed to 95 dB and 75 dB 1000 Hz tones while their facial electromyographic (EMG) activity from corrugator and zygomatic muscle regions were measured. Skin conductance responses were also measured. It was found that 95 dB but not 75 dB tones evoked increased corrugator activity. This effect differed significantly between males and females. Thus, it was only females that reacted with a significant increased corrugator response to the high intensity tone. While facial responses differed between the sexes, the skin conductance response patterns did not. Consistent with previous research it is concluded that females are more facially expressive than are males.     

Tempo discrimination in infants

An habituation/dishabituation paradigm demonstrates that 2- and 4-month-old infants are able to discriminate auditory sequences that vary slightly in tempo. Discriminations were only observed for intermediate tempi (600 ms but not 100, 300, 1500 ms IOI), suggesting that infants have the same optimal tempo range as adults.     

Whose Gene Is It? A Case Discussion About Familial Conflict over Genetic Testing for Breast Cancer

A multidisciplinary group of genetic and other professionals discuss a complex case of familial conflict over access to genetic information. One twin wishes to know the results of her deceased mother's tests for BRCA1 mutations; a second twin objects to researchers making this information available. As the case discussion unfolds, the apparent facts of this case are called into question and the lines of ethical certainty become less clear.     

Knowledge of Breast Cancer Genetics Among Breast Cancer Patients and First-Degree Relatives of Affected Individuals

The cloning of BRCA1, a susceptibility gene for inherited breast cancer, has made genetic screening possible for individuals and families whose medical histories are suggestive of an inherited predisposition to breast cancer. To date, few systematic attempts have been made to determine the level of knowledge about breast cancer genetics among women who are likely to seek BRCA1 screening when it becomes widely available. The present study attempted to assess the general knowledge about BRCA1 mutations in two groups: (1) first-degree relatives (FDRs) of breast cancer patients; and (2) women with a previous diagnosis of breast cancer. A self-administered, thirty-item questionnaire was developed through a pilot study. Ten of the items were objective, factual questions about breast cancer genetics. Responses to these questions were used to generate an overall knowledge score for each respondent. The study population was moderately knowledgeable about breast cancer genetics, with an average score of 5.35 out of 10. Counselors should not underestimate the importance of evaluating each counselee's existing knowledge about breast cancer, which can affect the provision and reception of genetic information. In particular, specific areas of knowledge that may be confusing or misunderstood were identified and these topics are discussed in detail.     

人性观对心理学理论与研究的影响

心理学的基本理论,尤其是人格理论,通常都蕴含着对人性的假设。人性观的差异常常导致其理论建构的差异。而且人性观影响心理学研究的方式、方法,影响对心理成因的认识、对心理疾病的理解、及对异常矫正策略的选择。     

Resistance and adherence to the norms of genetic counseling

Genetic counseling for women of advanced maternal age who are considering prenatal testing continues to be based on a principle of nondirectiveness. We interviewed 11 genetic counseling students and four counselors about how they experience and manage, in practice, the tensions between the ideology of nondirectiveness and the acknowledged reality that one can never be truly nondirective. We found that our respondents creatively resolve this tension—simultaneously resisting and adhering to the values of nondirectiveness and information-giving—in individual and situation-specific ways. This resolution is facilitated by the extent to which information given to counselees is fluid, mobile and context-dependent, but these very features of information also have critical implications for both the norms and the practice of genetic counseling.     

A compensatory approach to optimal selection with mastery scores

A Bayesian approach for simultaneous optimization of test-based decisions is presented using the example of a selection decision for a treatment followed by a mastery decision. A distinction is made between weak and strong rules where, as opposed to strong rules, weak rules use prior test scores as collateral data. Conditions for monotonicity of optimal weak and strong rules are presented. It is shown that under mild conditions on the test score distributions and utility functions, weak rules are always compensatory by nature. The authors are indebted to Wilbert Kallenberg for his valuable comments and to Jan Gulmans for providing the data for the empirical example. The names of the authors are alphabetical; they are equally responsible for the contents of this paper.     

词汇听觉使用频率在两类记忆测验中的比较研究

讨论了词语使用过程中视觉使用频率和听觉使用频率的区分。通过两个实验对听觉使用频率进行了探讨。实验一通过量表评定法得到了两组视觉使用频率相同,但听觉使用频率不同的双字词,实验二利用实验一得到的两组双字词对被试进行了记忆测验,在单一的听觉条件下,发现在自由回忆,听觉再认和模糊辨听这两类不同的记忆测验中出现了实验性分离现象;反映了听觉使用频率自身的一些特征。