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.     

A laboratory school comparison of mixed amphetamine salts extended release (Adderall XR) and atomoxetine (Strattera) in school-aged children with attention deficit/hyperactivity disorder

Mixed amphetamine salts extended release (MAS XR; Adderall XR) and atomoxetine (Strattera) were compared in children 6 to 12 years old with attention deficit/hyperactivity disorder (ADHD) combined or hyperactive/impulsive type in a randomized, double-blind, multicenter, parallel-group, forced-dose-escalation laboratory school study. Primary efficacy measure was the SKAMP (Swanson, Kotkin, Agler, M-Flynn, and Pelham) behavioral rating scale. Changes in mean SKAMP deportment scores from baseline were significantly greater for MAS XR (n = 102) than for atomoxetine (n = 101) overall (-0.56 and -0.13, respectively; p < .0001) and at each week (p < .001). Adverse events were similar for both treatment groups. The extended time course of action and greater therapeutic efficacy of MAS XR suggests that it is more effective than atomoxetine in children with ADHD.     

Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome

Using an adaptation of the Attentional Networks Test, we investigated aspects of executive control in children with chromosome 22q11.2 deletion syndrome (DS22q11.2), a common but not well understood disorder that produces non-verbal cognitive deficits and a marked incidence of psychopathology. The data revealed that children with DS22q11.2 demonstrated greater difficulty than controls in locating and processing target items in the presence of distracters. Importantly, children with DS22q11.2 showed a deficit in the ability to monitor and adapt to stimulus conflict. These data provide evidence of inadequate conflict adaptation in children with DS22q11.2, a problem that is also present in schizophrenia. The findings of specific executive dysfunction in this group may provide a linkage between particular genetic abnormalities and the development of psychopathology.     

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.     

Information processing limitations as revealed by temporal discrimination

Information processing limit is a fundamental issue in cognitive psychology. One particular way of studying it is to adopt a temporal span perspective. In this experiment, Weber fractions based on thresholds for duration discrimination are used for adopting this perspective. The results showed that, contrary to the constant predicted by Weber's law, the Weber fraction is larger at 2 than at .2 s. This increase is observed in conditions where inter-trial intervals and cognitive load are manipulated, and is argued to be due to the fact that 2 s is beyond a temporal span limit for processing information.     

The redux of cognitive consistency theories: evidence judgments by constraint satisfaction

The authors suggest that decisions made from multiple pieces of evidence are performed hy mechanisms of parallel constraint satisfaction, which are related to cognitive consistency theories. Such reasoning processes are bidirectional--decisions follow from evidence, and evaluations of the evidence shift toward coherence with the emerging decision. Using a factually complex legal case, the authors observed patterns of coherence shifts that persisted even when the distribution of decisions was manipulated (Study 1) and influenced by the participants' attitudes (Study 2). The evaluations of the evidence cohered with the preferred decision even when participants changed their preference (Study 3). Supporting the bidirectionality of reasoning. Study 4 showed that assigning participants to a verdict affected their evaluation of the evidence. Coherence shifts were observed also in related background knowledge. This research suggests that cognitive consistency theories should play a greater role in the understanding of human reasoning and decision making.     

Prevention opportunities in health care settings

Psychologists have an opportunity to offer their expertise at a time when health care settings are beginning to recognize the importance of behaviorally based interventions for improving health and health care. The authors review the changing patterns of health and illness that have led to an increased interest in the role of patient and provider behavior and discuss the many advantages of using health care settings as prevention sites. Examples of successful behaviorally based prevention programs are presented, along with the evidence supporting the cost-effectiveness of such programs. Challenges presented by working in health care settings are described. Throughout, the authors emphasize the multiple opportunities for psychologists' involvement across a wide variety of health care delivery sites.     

Perceptual completion and object-based representations in short-term visual memory

Object-based representations in visual short-term memory (VSTM) were examined using a change detection memory task. A display comprising two rows of four differently colored elements was followed by a probe display in which only one of the rows reappeared. On same trials, the probed row was identical to the corresponding row in the memory display. On different trials, two of the elements in the probed row had their colors exchanged. In each memory display, a task-irrelevant visual element appeared between the two rows, with the potential to function as an occluder. Performance was enhanced when perceptual completion meant that four, rather than eight, objects were perceived in the memory display and when the probe display revealed that the occluded elements continued behind the occluder. It appears that several forms of representation can co-occur to support VSTM, one of which is object based.