Perception of genetic risk among genetic counselors

A mailed survey of female prenatal genetic counselors, obstetric nurses, and high school biology teachers was conducted to determine if these groups hold different attitudes toward genetic risk and to investigate the extent to which any differences result from the effect of different professional experiences. In this study, the participants were 166 genetic counselors, 116 obstetric nurses, and 78 biology teachers (n = 360). Survey participants completed a written questionnaire designed to assess their numeric estimate of the empiric risk for birth defects/genetic problems, their subjective perception of this risk, and their personal use of prenatal diagnosis. Genetic counselors were found to be less likely than the other groups to consider the frequency of birth defects/genetic problems as rare and were 10 times more likely than nurses and 8 times more likely than teachers to have had prenatal diagnosis. Furthermore, more than half of the prenatal diagnosis procedures had by genetic counselors were not medically indicated. These results suggest that genetic counselors have an increased perception of genetic risks relative to nurses or teachers. Possible explanations for this finding are discussed, and the potential role of discordant risk perception in creating biases in the genetic counseling process is explored.     

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.     

The Client Is the Most Important Common Factor: Clients' Self-Healing Capacities and Psychotherapy

I first briefly review the dodo bird verdict and suggest that we should be responding to it by looking for a new way to conceptualize how therapy works. Then I describe the dominant medical or treatment model of psychotherapy and how it puts the client in the position of a dependent variable who is operated on by supposedly potent therapeutic techniques. Next I argue that the data do not fit with this model. An alternative model is that the client is the most important common factor and that it is clients' self-healing capacities which make therapy work. I then argue that therapy has two phases—the involvement phase and the learning phase—and that the involvement phase is the most important. I next review the five learning opportunities provided by therapy. Finally, I argue that a relational model of therapy focused on consultation, collaboration, and dialogue is better than a treatment model.     

Dualism and its Importance for Medicine

Cartesian dualism has been viewed by medical theorists to be oneof the chief causes of a reductionist/mechanistic treatment ofthe patient. Although I aver that Cartesian dualism is one culprit for the misapprehension of the genuine treatment of patients in termsof both mind and body, I argue that interactive dualism whichstresses the interaction of mind and body is essential to treatpatients with dignity and compassion. Thus, adequate medical carethat is humanistic in nature is difficult (if not impossible)to achieve without physicians adhering to a dualistic frameworkin which the body and person is treated during illness.     

The variability of practice hypothesis in motor learning: does it apply to Alzheimer's disease?

Based on Schmidt's (1975) variability of practice hypothesis, this study examined acquisition and transfer of a gross motor skill, namely tossing, in 58 patients with Alzheimer's disease (AD) and 58 healthy older adults under constant, blocked, and random practice conditions. While healthy older adults were able to learn the tossing task equally well under the three practice conditions, only AD patients receiving constant practice showed significant improvements. Tests of intermediate transfer yielded the expected random practice advantage in healthy controls but not AD patients. None of the practice conditions facilitated intermediate transfer in AD patients; however, constant practice did benefit these impaired individuals on tests of near transfer. These results indicate that the variability of practice hypothesis does not extend to AD patients. As motor learning and transfer were clearly a function of constant practice, future attempts to retrain basic activities of daily living in AD patients should emphasize consistency in training.     

The role of inferences about referential intent in word learning: evidence from autism

Young children are readily able to use known labels to constrain hypotheses about the meanings of new words under conditions of referential ambiguity. At issue is the kind of information children use to constrain such hypotheses. According to one theory, children take into account the speaker's intention when solving a referential puzzle. In the present studies, children with autism were impaired in monitoring referential intent, but were equally successful as normally developing 24-month-old toddlers at mapping novel words to unnamed items under conditions of referential ambiguity. Therefore, constraints that lead the child to map a novel label to a previously unnamed object under these circumstances are not solely based on assessments of speakers' intentions.     

Interfering neighbours: the impact of novel word learning on the identification of visually similar words

We assessed the impact of visual similarity on written word identification by having participants learn new words (e.g. BANARA) that were neighbours of familiar words that previously had no neighbours (e.g. BANANA). Repeated exposure to these new words made it more difficult to semantically categorize the familiar words. There was some evidence of interference following an initial training phase, and clear evidence of interference the following day (without any additional training); interference was larger still following more training on the second day. These findings lend support to models of reading that include lexical competition as a key process.     

Individual Accountability in Cooperative Learning Groups at the College Level: Differential Effects on High,Average, and Low Exam Performers

Over a three-semester period in a large undergraduate human development course, students were assigned to 5–7 member groups to work together in preparing for an exam in one of the five content units in the course. Their exam performance was tracked over three units: a baseline unit in which students worked only individually, a unit in which they worked in cooperative teams, and a follow-up unit in which the formal cooperative team structure was removed. Three different bonus-credit contingencies were used in the cooperative learning unit across the three semesters: (a) awarding full bonus credit to each individual in the group if the group as a whole improved its exam performance by the specified amount, (b) awarding partial bonus credit to each individual in the group if the group as a whole improved it exam performance by the specified amount and full bonus credit to each individual who also improved by the specified amount, and (c) awarding full bonus credit to an individual in the group if both the group and the individual improved exam performance by the specified amount. The three contingencies produced somewhat similar patterns of change for low and average performers, but the high performers fared better under the last two contingencies than under the group-only contingency.     

Working Memory and Learning in Early Alzheimer’s Disease

Cognitive deficits associated with early Alzheimers disease (AD) have been recently operationalised in terms of an acquisition deficit and the research supporting this view is presented. However, there is still debate concerning the nature of this deficit and how underlying cognitive processes may be detrimentally affecting the ability to acquire new information in early AD. This review argues that the pattern of cognitive deficits contributing to the acquisition impairment in early AD patients may be readily interpreted within the context of a working memory model. Isolating the component processes of working memory that underlie the acquisition deficit in early AD patients will aid in the design of clinical applications that are focussed at enhancing the ability to acquire new information in everyday life.     

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.