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.     

Predicting true patterns of cognitive performance from noisy data

Starting from the premise that the purpose of cognitive modeling is to gain information about the cognitive processes of individuals, we develop a general theoretical framework for assessment of models on the basis of tests of the models’ ability to yield information about the true performance patterns of individual subjects and the processes underlying them. To address the central problem that observed performance is a composite of true performance and error, we present formal derivations concerning inference from noisy data to true performance. Analyses of model fits to simulated data illustrate the usefulness of our approach for coping with difficult issues of model identifiability and testability.     

Quality of life of adolescent males with attention-deficit hyperactivity disorder

Most psychosocial research on attention-deficit/hyperactivity disorder (ADHD) has focused on deficits in school, family, or behavioral functioning without incorporating perceived quality of life (QoL) or the adolescents' perspective. The Youth Quality of Life Instrument--Research Version (YQOL-R), was used to assess self-perceived QoL in a community sample of adolescents aged 11-18 years. Fifty-five adolescent males with a clinical diagnosis of ADHD were compared to a group of 107 adolescents with no chronic conditions (NCC) and a group of 52 adolescents with mobility impairments (MI). The adolescents with ADHD reported significantly lower perceived QoL scores, particularly in the Self and Relationship domains, than the NCC group. Their scores were similar to those from the group with MI, a group previously shown to have a substandard QoL. Interventions to improve self-esteem and social interactions might use QoL outcomes in evaluating effectiveness.     

The Gladiator Sparrow: ethical issues in behavioral research on captive populations of wild animals: a case study with commentaries exploring ethical issues and research on wild animal populations

This case involves invasive research on captive wild populations of birds to study aggressive animal behavior. The case and associated commentaries raise and examine fundamental issues, whether and under what conditions, such research is ethically justified when the research has no expected, direct application to the human species; the moral status of animals and how one balances concern for the animal's interests against the value of gains in scientific knowledge. They also emphasize the issue of the importance of a thorough literature search to ensure appropriate research design and experimental design to minimize animal suffering. It raises the issue of circumstances in which such research should be modified or terminated.     

Disrupting feedback processing interferes with rule-based but not information-integration category learning

The effect of a sequentially presented memory scanning task on rule-based and information-integration category learning was investigated. On each trial in the short feedback-processing time condition, memory scanning immediately followed categorization. On each trial in the long feedback-processing time condition, categorization was followed by a 2.5-sec delay and then memory scanning. In the control condition, no memory scanning was required. Rule-based category learning was significantly worse in the short feedback-processing time condition than in the long feedback-processing time condition or control condition, whereas information-integration category learning was equivalent across conditions. In the rule-based condition, a smaller proportion of observers learned the task in the short feedback-processing time condition, and those who learned took longer to reach the performance criterion than did those in the long feedback-processing time or control condition. No differences were observed in the information integration task. These results provide support for a multiple-systems approach to category learning and argue against the validity of single-system approaches.     

Inspiration: core characteristics, component processes, antecedents, and function

The authors examined the core characteristics, component processes, antecedents, and function of state inspiration. In Studies 1 and 2, inspiration was contrasted with baseline experience and activated positive affect (PA) using a vivid recall methodology. Results supported the tripartite conceptualization of inspiration. Confirmatory factor analysis indicated that inspiration may be decomposed into separate processes related to being inspired "by" and being inspired "to." Study 3 found that daily inspiration is triggered by illumination among individuals high in receptive engagement, whereas activated PA is triggered by reward salience among individuals high in approach temperament. Approach temperament was also implicated in being inspired "to." Inspiration and activated PA appear to serve different functions: transmission and acquisition, respectively.     

Context-processing deficits in schizophrenia: diagnostic specificity, 4-week course,and relationships to clinical symptoms

Previous research on schizophrenia suggests that context-processing disturbances are one of the core cognitive deficits present in schizophia. However, it is not clear whether such deficits are specific to schizophrenia as compared with other psychotic disorders. To address this question, the authors administered a version of the AX Continuous Performance Test designed to assess context processing in a sample of healthy controls, patients with schizophrenia, and patients with other psychotic disorders. Participants were tested at index (when medication naive and experiencing their first contact with psychiatric services) and 4 weeks later, following medication treatment. At index, patients with schizophrenia and the psychotic comparison group demonstrated similar impairments in context processing. However, context-processing deficits improved in the psychotic comparison group at 4 weeks but did not improve in patients with schizophrenia.     

What response times tell of children's behavior on the balance scale task

Analysis of accuracy of responses to balance scale problems gives a global idea of the cognitive processes that underlie problem-solving behavior on this task. We show that response times (RTs) provide additional detailed information about the kind and duration of these processes. We derive predictions about the RTs from Siegler's (1981) model for the balance scale task, including the counterintuitive prediction that young adults are slower than children in solving particular balance scale problems. The predictions were tested in a study in which 191 6- to 22-year-old participants were presented with a computerized balance scale task. RTs were analyzed with regression models. In addition to qualitative differences between items, we also modeled quantitative differences between items in the regression models. Analyses supported the predictions and provided additional knowledge on the rules. Rule II was reformulated as a rule that always involves the encoding, but not always the correct application of the distance cue. RTs provided evidence for the use of a buggy-rule and not an addition-rule. Finally, a relation between rule inconsistency and increased RT was found.     

The visual perception of 3-D shape from multiple cues: are observers capable of perceiving metric structure?

Three experiments are reported in which observers judged the three-dimensional (3-D) structures of virtual or real objects defined by various combinations of texture, motion, and binocular disparity under a wide variety of conditions. The tasks employed in these studies involved adjusting the depth of an object to match its width, adjusting the planes of a dihedral angle so that they appeared orthogonal, and adjusting the shape of an object so that it appeared to match another at a different viewing distance. The results obtained on all of these tasks revealed large constant errors and large individual differences among observers. There were also systematic failures of constancy over changes in viewing distance, orientation, or response task. When considered in conjunction with other, similar reports in the literature, these findings provide strong evidence that human observers do not have accurate perceptions of 3-D metric structure.     

On the generality of optimal versus objective classifier feedback effects on decision criterion learning in perceptual categorization

Biased category payoff matrices engender separate reward- and accuracy-maximizing decision criteria Although instructed to maximize reward, observers use suboptimal decision criteria that place greater emphasis on accuracy than is optimal. In this study, objective classifier feedback (the objectively correct response) was compared with optimal classifier feedback (the optimal classifier's response) at two levels of category discriminability when zero or negative costs accompanied incorrect responses for two payoff matrix multiplication factors. Performance was superior for optimal classifier feedback relative to objective classifier feedback for both zero- and negative-cost conditions, especially when category discriminability was low, but the magnitude of the optimal classifier advantage was approximately equal for zero- and negative-cost conditions. The optimal classifier feedback performance advantage did not interact with the payoff matrix multiplication factor. Model-based analyses suggested that the weight placed on accuracy was reduced for optimal classifier feedback relative to objective classifier feedback and for high category discriminability relative to low category discriminability. In addition, the weight placed on accuracy declined with training when feedback was based on the optimal classifier and remained relatively stable when feedback was based on the objective classifier. These results suggest that feedback based on the optimal classifier leads to superior decision criterion learning across a wide range of experimental conditions.