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.     

Describing suicidality: an investigation of qualitative SSF responses

Given the incidence and seriousness of suicidality in clinical practice, the need for new and better ways to assess suicide risk is clear. While there are many published assessment instruments in the literature, survey data suggest that these measure are not widely used. One possible explanation is that current quantitatively developed assessment instruments may fail to capture something essential about the suicidal patient's experience. The current exploratory study examined a range of open ended qualitative written responses made by suicidal outpatients to five assessment prompts from the Suicide Status Form (SSF)--psychological pain, press, perturbation, hopelessness, and self-hate. Two different samples of suicidal outpatients seeking treatment, including suicidal college students (n = 119) and active duty U.S. Air Force personnel (n = 33), provided a wide range of written responses to the five SSF prompts. A qualitative coding manual was developed through a step-by-step methodology; two naive coders were trained to use the coding system and were able to sort all the patients' written responses into the content categories with very high interrater reliability (Kappa > .80). Certain written qualitative responses of the patients were more frequent than others, both within and across the five SSF constructs. Among a range of specific exploratory findings, one general finding was that two thirds of the 636 obtained written responses could be reliably categorized under four major content headings: relational (22%), role responsibilities (20%), self (15%), and unpleasant internal states (10%). Theoretical, research, and clinical implications of the methodology and data are discussed.     

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

Implicit leadership theories in applied settings: factor structure, generalizability, and stability over time

The present empirical investigation had a 3-fold purpose: (a) to cross-validate L. R. Offermann, J. K. Kennedy, and P. W. Wirtz's (1994) scale of Implicit Leadership Theories (ILTs) in several organizational settings and to further provide a shorter scale of ILTs in organizations; (b) to assess the generalizability of ILTs across different employee groups, and (c) to evaluate ILTs' change over time. Two independent samples were used for the scale validation (N1 = 500 and N2 = 439). A 6-factor structure (Sensitivity, Intelligence, Dedication, Dynamism, Tyranny, and Masculinity) was found to most accurately represent ELTs in organizational settings. Regarding the generalizability of ILTs, although the 6-factor structure was consistent across different employee groups, there was only partial support for total factorial invariance. Finally, evaluation of gamma, beta, and alpha change provided support for ILTs' stability over time.     

Self-directed affiliation and autonomy across acute and continuation phase cognitive therapy for recurrent depression

Using Benjamin's (2000) Structural Analysis of Social Behavior, we evaluated change in "self-directed" affiliation and autonomy and prediction of treatment response and relapse/recurrence among adult outpatients with recurrent major depressive disorder consenting to acute phase cognitive therapy (A-CT; Beck, Rush, Shaw, & Emery, 1979; N=156); A-CT responders randomized (N=84) to 8 months of continuation phase cognitive therapy (C-CT; Jarrett, 1989; Jarrett et al., 1998; Jarrett & Kraft, 1997) or assessment-only control; and C-CT and control patients entering a 16-month, assessment-only follow-up (N=74). Self-directed affiliation and autonomy increased after A-CT, and C-CT further increased affiliation and autonomy. Affiliation and autonomy did not predict A-CT response, but lower affiliation and higher autonomy pre-A-CT predicted relapse/recurrence post-A-CT. We discuss potential clinical implications of these results and present case examples to illustrate patterns of change.     

Effects of ontogeny on performance of rats in a novel object-recognition task

The current experiment investigated ontogenetic forgetting on a novel object-recognition task similar to that of Besheer and Bevins. 18-day-old pups (n = 49) and adult (n = 29) rats were tested at two retention intervals (1 min. or 120 min.). By employing exclusion criteria which demanded minimum amounts of object exploration at training and test, the performance of 18-day-old pups but not that of adults was significantly impaired at 120 min. relative to 1 min. Analysis indicated that the ontogeny of the learning and memory measured in novel object recognition follows a developmental trend similar to that of other forms of learning, with older animals remembering more and thus performing better than younger animals. Unfortunately, given the extreme variability inherent to the task and large N necessary to achieve significance, the use of this task in studies of learning, memory, and development is discouraged.     

A role for CS-US contingency in Pavlovian conditioning

Two experiments evaluated the role of conditioned stimulus-unconditioned stimulus (CS-US) contingency in appetitive Pavlovian conditioning in rats. In both experiments, some groups received a positively contingent CS signaling an increased likelihood of the US relative to the absence of the CS. These groups were compared with control treatments in which the likelihood of the US was the same in the presence and absence of the CS. A trial marker served as a trial context. Experiment 1 found contingency sensitivity. There was a reciprocal relationship between responding to the CS and the trial marker. Experiment 2 showed that this result was not stimulus or response specific. These results are consistent with associative explanations and the idea that rats are sensitive to CS-US contingency.     

Verbal mediation of number knowledge: evidence from semantic dementia and corticobasal degeneration

Patients with corticobasal degeneration (CBD) appear to have impaired number knowledge. We examined the nature of their number deficit while we tested the hypothesis that comprehension of larger numbers depends in part on verbal mediation. We evaluated magnitude judgments and performance on number conservation measures rooted in Piagetian theory in nonaphasic patients with CBD (n=13) and patients with a fluent form of progressive aphasia known as semantic dementia (SD; n=15). We manipulated the numbers of the arrays and the visual-spatial properties of the stimuli being compared during magnitude judgments and Piagetian conservation measures. CBD patients were consistently impaired judging the magnitudes of larger numbers (4-9), while they had minimal difficulty with smaller numbers (magnitudes < or = 3). By comparison, SD patients performed all measures of number knowledge at a ceiling level regardless of number magnitude. Neither patient group was significantly impacted by manipulations of the spatial properties of the stimuli. CBD patients' impairment with larger numbers despite minimal aphasia, and SD patients' intact performance despite an aphasia, challenge the proposal that understanding larger numbers depends on verbal mediation.     

Affirmative action. Psychological data and the policy debates

The authors bring psychological research to bear on an examination of the policy of affirmative action. They argue that data from many studies reveal that affirmative action as a policy has more benefits than costs. Although the majority of pro-affirmative action arguments in the social sciences stress diversity, the authors' argument focuses on issues of merit. The merit-based argument, grounded in empirical studies, concludes that the policy of affirmative action conforms to the American ideal of fairness and is a necessary policy.