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.     

Cross-cultural similarities and differences in North Americans’ geographic location judgments

We examined some potential causes of bias in geographic location estimates by comparing location estimates of North American cities made by Canadian, U.S., and Mexican university students. All three groups placed most Mexican cities near the equator, which implies that all e influenced by shared beliefs about the locationthree groups wers of geographical regions relative to global reference points. However, the groups divided North America into different regions and differed in the relative accuracy of the estimates within them, which implies that there was an influence of culture-specific knowledge. The data support a category-based system of plausible reasoning, in which biases in judgments are multiply determined, and underscore the utility of the estimation paradigm as a tool in cross-cultural cognitive research.     

Psychological mechanisms of medically unexplained symptoms: an integrative conceptual model

Theories of medically unexplained illness based on the concepts of dissociation, conversion, and somatization are summarized. Evidence cited in support of these theories is described and the conceptual strengths and shortcomings of each approach are considered. It is argued that each of these approaches adds to the understanding of unexplained illness but that none is able to provide a comprehensive explanation of the phenomenon. An integrative conceptual model of unexplained illness based on cognitive psychological principles is then presented. This model attempts to combine existing theoretical approaches within a single explanatory framework, extending previous theory by explaining how compelling symptoms can exist in the absence of organic pathology. The clinical and empirical implications of the model are then considered.     

Race and information processing in criminal trials: does the defendant's race affect how the facts are evaluated?

Two studies examined whether a criminal defendant's race influences Whites' sensitivity to legally relevant information. In Study 1, prosecution case strength ratings and guilt likelihood ratings were more sensitive to the strength of the defendant's alibi when he was Black than when he was White, if the experimental task was designed to elicit low processing motivation. Under high motivation, participants were equally sensitive to alibi strength, regardless of defendant race. In Study 2, the alibi strength manipulation was replaced with a manipulation of the effectiveness of the district attorney's cross-examination. As predicted, defense case strength ratings were more sensitive to the strength of the prosecutor's cross-examination with a Black defendant than with a White defendant-under low motivation. Under high motivation, sensitivity did not depend on defendant race. These results suggest that a Black defendant can elicit greater sensitivity to legally relevant information than will a White defendant.     

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.     

Weathering the storm: children's long-term recall of Hurricane Andrew

Children who experienced a highly stressful natural disaster, Hurricane Andrew, were interviewed within a few months of the event, when they were 3-4 years old, and again 6 years later, when they were 9-10 years old. Children were grouped into low, moderate, or high stress groups depending on the severity of the experienced storm. All children were able to recall this event in vivid detail 6 years later. In fact, children reported over twice as many propositions at the second interview as at the first. At the initial interview, children in the high stress group reported less information than children in the moderate stress group, but 6 years later, children in all three stress groups reported similar amounts of information. However children in the high stress group needed more questions and prompts than children in the other stress groups. Yet children in the high stress group also reported more consistent information between the two interviews, especially about the storm, than children in the other stress groups. Implications for children's developing memory of stressful events are discussed.     

Spanish-language measures of mania and depression

Efforts to better understand bipolar spectrum disorders across ethnic groups are often hampered by the lack of commonly used self-report instruments to assess mania and depression in individuals who speak languages other than English. This article describes the translation into Spanish of 2 self-report measures of manic symptoms (i.e., the Internal State Scale and the Hypomanic Personality Scale) and 2 self-report measures of depression (i.e., the Inventory to Diagnose Depression and the Inventory to Diagnose Depression, Lifetime version). The authors translated these measures into Spanish and assessed their psychometric properties among bilingual college students (N = 88). Results suggest that the Spanish versions have psychometric properties comparable to the English versions of the instruments.