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.     

Predictive Genetic Testing for Hereditary Breast and Ovarian Cancer: Psychological Distress and Illness Representations 1 Year Following Disclosure

This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34 noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest while general distress remained about the same. There were no significant changes in distress in the group of carriers except for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects of predictive testing when offered in the context of a multidisciplinary approach.     

Evaluating the Impact of Genetic Counseling and Testing with Signal Detection Methods

One measure of the impact of genetic counseling and testing (GCT) is the extent to which it fosters behavioral change that is consistent with mutation status. We describe and illustrate how two different signal detection methods, receiver operating characteristic (ROC) analysis and recursive partitioning, can be used in this context to evaluate the impact of GCT. We analyzed real screening behavior data obtained in the 12 months following GCT for Hereditary Nonpolyposis Colon Cancer (HNPCC) using these two different signal detection approaches. Each approach demonstrated that GCT had an impact on behavioral outcomes, and was effective in fostering behavioral outcomes appropriate to mutation status. The ROC approach demonstrated that GCT was effective because mutation positive and mutation negative individuals could be distinguished on the basis of the number of recommended screening behaviors. The recursive partitioning approach demonstrated that GCT was effective because there were generally high rates of adherence to screening guidelines among subjects. The recursive partitioning technique also identified four subgroups of subjects, each with distinct characteristics, for which tailored interventions could be developed to increase rates of adherence to screening guidelines. Signal detection methods are easily implemented and are useful techniques for evaluating the impact of GCT.     

Using response times to detect aberrant responses in computerized adaptive testing

A lognormal model for response times is used to check response times for aberrances in examinee behavior on computerized adaptive tests. Both classical procedures and Bayesian posterior predictive checks are presented. For a fixed examinee, responses and response times are independent; checks based on response times offer thus information independent of the results of checks on response patterns. Empirical examples of the use of classical and Bayesian checks for detecting two different types of aberrances in response times are presented. The detection rates for the Bayesian checks outperformed those for the classical checks, but at the cost of higher false-alarm rates. A guideline for the choice between the two types of checks is offered.This study received funding from the Law School Admission Council (LSAC). The opinions and conclusions contained in this paper are those of the authors and do not necessarily reflect the policy and position of LSAC. The authors are most indebted to Wim M. M. Tielen for his computational assistance and to the US Defense Manpower Data Center for the permission to use the ASVAB data set in the empirical examples.     

The Ethics of Type 1 Diabetes Prediction and Prevention Research

There are approximately one million cases oftype 1 diabetes in the US, and the incidenceis increasing worldwide. Given that two-thirdsof cases present in childhood, it is criticalthat prediction and prevention research involvechildren. In this article, I examine whethercurrent research methodologies conform to theethical guidelines enumerated by the NationalCommission for the Protection of Human Subjectsof Biomedical and Behavioral Research, andadopted into the federal regulations thatprotect research subjects. I then offer twopolicy recommendations to help researchersdesign studies that conform to these ethicalrequirements.     

Integrity and Honesty Testing: What Do We Know? How Do We Use It?

This selective review of integrity and honesty testing addresses two primary questions: ‘What do we know about honesty testing?’ and ‘How do we use what we know?’ Up-to-date information about test reliability, validity, and construct definition from recent reviews of the research literature in the USA is presented and interpreted. Relationships to other selection devices and personality measures are discussed, as well as how integrity tests fit into a multiple assessment selection system.     

The learning benefits of teaching: A retrieval practice hypothesis

Teaching educational materials to others enhances the teacher's own learning of those to‐be‐taught materials, although the underlying mechanisms remain largely unknown. Here, we show that the learning‐by‐teaching benefit is possibly a retrieval benefit. Learners (a) solved arithmetic problems (i.e., they neither taught nor retrieved; control group), (b) taught without relying on teaching notes (i.e., they had to retrieve the materials while teaching; teaching group), (c) taught with teaching notes (i.e., they did not retrieve the materials while teaching; teaching without retrieval practice [TnRP] group), or (d) retrieved (i.e., they did not teach but only practised retrieving; retrieval practice group). In a final comprehension test 1 week later, learners in the teaching group, as did those in the retrieval practice group, outperformed learners in the TnRP and control groups. Retrieval practice possibly causes the learning benefits of teaching.     

Bayley‐III: Cultural differences and language scale validity in a Danish sample

The purpose of this study was to investigate cultural differences between Danish and American children at 2 and 3 years as measured with the developmental test Bayley‐III, and to investigate the Bayley‐III Language Scale validity. The Danish children (N = 43) were tested with the Bayley‐III and their parents completed an additional language questionnaire (the MacArthur‐Bates CDI). Results showed that scores from the Danish children did not differ significantly from the American norms on the Cognitive or Motor Scale, but the Danish sample scored significantly higher on the Language Scale. A comparison of the Bayley‐III Language subtests with the CDI showed that the two measures correlated significantly, but the percentile score from the CDI was significantly higher than the percentile score from the Bayley‐III Language subtests. This could be because the two instruments measure slightly different areas of language development, or because the Bayley‐III overestimates language development in Danish children. However, due to the limitations of the current study, further research is needed to clarify this issue.     

Integrating Hip‐Hop Culture and Rap Music Into Social Justice Counseling With Black Males

In this article, the author suggests that Hip‐Hop culture and rap music, in particular, can be integrated into individual counseling interactions with Black male clients to discuss the social injustices (e.g., hypercriminalization) they face. Literature examining the history of Hip‐Hop culture and how rap music has been used therapeutically with Black males is presented. The article concludes with a vignette illustrating how Elligan's ( 2000 ) rap therapy framework can help explore experiences Black male clients encounter.     

Study for now,but judge for later: Delayed judgments of learning promote long‐term retention

Larsson Sundqvist, M., Todorov, I., Kubik, V. & Jönsson, F.U. (2012) Study for now, but judge for later: Delayed judgments of learning promote long‐term retention. Scandinavian Journal of Psychology 53, 450–454. Delayed judgments of learning (JOL) are assumed to be based on covert retrieval attempts. A common finding is that testing memory during learning improves later retention (i.e., the testing effect), and even more so than an equivalent amount of study, but only after a longer retention interval. To test the assertion that also delayed JOLs improve memory, the participants either studied Swahili‐Swedish word pairs four times, or they both studied (two times) and performed delayed JOLs (two times) alternately. Final cued recall test were given after either five minutes or one week. Results showed a reliable learning‐group by retention‐interval interaction, with less forgetting in the group that alternated between studying and making JOLs. The results are discussed in relation to the self‐fulfilling prophecy account of Spellman and Bjork (1992) , and in terms of study advice, the results further underscore the importance of delaying JOLs when studying and evaluating one’s ongoing learning.