Genetic Counselors’ Views and Experiences with the Clinical Integration of Genome Sequencing

In recent years, new sequencing technologies known as next generation sequencing (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the two emerging approaches, whole exome (WES) and whole genome (WGS) sequencing, have started to be integrated in the clinical arena, we sought to survey health care professionals who are likely to be involved in the implementation process now and/or in the future (e.g., genetic counselors, geneticists and nurse practitioners). Two hundred twenty-one genetic counselors— one third of whom currently offer WES/WGS—participated in an anonymous online survey. The aims of the survey were first, to identify barriers to the implementation of WES/WGS, as perceived by survey participants; second, to provide the first systematic report of current practices regarding the integration of WES/WGS in clinic and/or research across the US and Canada and to illuminate the roles and challenges of genetic counselors participating in this process; and third to evaluate the impact of WES/WGS on patient care. Our results showed that genetic counseling practices with respect to WES/WGS are consistent with the criteria set forth in the ACMG 2012 policy statement, which highlights indications for testing, reporting, and pre/post test considerations. Our respondents described challenges related to offering WES/WGS, which included billing issues, the duration and content of the consent process, result interpretation and disclosure of incidental findings and variants of unknown significance. In addition, respondents indicated that specialty area (i.e., prenatal and cancer), lack of clinical utility of WES/WGS and concerns about interpretation of test results were factors that prevented them from offering this technology to patients. Finally, study participants identified the aspects of their professional training which have been most beneficial in aiding with the integration of WES/WGS into the clinical setting (molecular/clinical genetics, counseling and bioethics) and suggested that counseling aids (to assist them when explaining aspects of these tests to patients) and webinars focused on WES/WGS (for genetic counselors and other health care professionals) would be useful educational tools. Future research should permit us to further enhance our knowledge of pitfalls and benefits associated with the introduction of these powerful technologies in patient care and to further explore the roles and opportunities for genetic counselors in this rapidly evolving field.     

Testing the Deterrent Effects of Personal and Vicarious Experience with Punishment and Punishment Avoidance

This paper reviews the current literature concerning social control in the U.S. Army with special emphasis upon the convergence/divergence debate now guiding much of the legal and sociological conceptualizing in this research. Emphasizing the weaknesses in this literature, a new socio‐legal conceptual model based upon the work of Weber (1921/1978), Rustad (1982), Nonet and Selznick (1978) as well as classical military source material is then proposed as an alternative to the current debate in the literature.     

The Association Between Emotion Work Balance and Relationship Satisfaction of Couples Seeking Therapy

Emotion work refers to the efforts that are made to enhance emotional well-being and provide emotional support in a relationship. Data were collected from 63 couples who were seeking therapy to determine the relation between emotion work balance and relationship satisfaction. On the basis of comparative scores on emotion work, each dyad was categorized as either: (a) balanced; (b) participant performs more emotion work; or (c) partner performs more emotion work. Results indicate that both men and women are most satisfied with their relationship when levels of emotion work are approximately equal. Thus, clinical interventions that aim to establish balance in emotion work may benefit both partners in a relationship.     

The Mediating Role of Social Skills in the Relationship between Motor Ability and Internalizing Symptoms in Pre‐primary Children

Impaired motor development can deprive a child of constructive engagement in early motor activities and thus diminish opportunities for the acquisition of key cognitive, social and emotional abilities. The aim of the current study was to test a model where social skills mediate the relationship between motor ability and internalizing symptoms in pre‐primary children. A cross‐sectional research design was employed to assess the mediation model using data from 234 boys and 241 girls aged 4 to 6 years. Structural equation modelling provided support for the mediating role of social skills as assessed by the child's teacher. Replication of these findings in longitudinal studies, elucidating how social skills relate to motor impairment, could have implications for the prevention of psychopathology in young children with motor impairment. Copyright © 2012 John Wiley & Sons, Ltd.     

dreampoem

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Chaos Theory in Psychology 1995. Edited by Frederick Abraham and Albert Gilgen Westport: Praeger     

Diagnosis of cognitive impairment onset in older adults based on limitations in language skills / Diagnóstico del inicio del deterioro cognitivo en mayores a partir de limitaciones en las capacidades lingüísticas

Abstract

Progressive decline in language has been described in neuropsychological studies on Alzheimer’s disease and Mild Cognitive Impairment (MCI). We investigate this decline in its early stages, as well as its manifestations and the linguistic differences between participants at risk of developing MCI and without impairment. Participants were 36 older adults, all aged over 65. They were assessed using 31 subtests grouped into eight areas: fluency, comprehension, oral expression, reading, writing, memory, perceptual organization and processing speed. Our results showed significant differences between participants at risk of developing MCI and without impairment in verbal tests but not in manipulative tests. All participants at risk of developing MCI scored lowest in these eight areas. Our findings illustrate the relevance of investigating language skills in people at risk of developing MCI. Investigating these neuropsychological changes will help design appropriate intervention programmes that affect areas with higher levels of impairment.     

Dissociating sources of dual-task interference using human electrophysiology

In the psychological refractory period (PRP) paradigm, two unmasked targets are presented, each of which requires a speeded response. Response times to the second target (T2) are slowed when T2 is presented shortly after the first target (T1). Electrophysiological studies have previously shown that the P3 event-related potential component is not delayed during T2 response slowing in the PRP paradigm, but that the lateralized readiness potential is delayed, which suggests a bottleneck on response selection operations but not on stimulus identification. Recently, researchers (Arnell & Duncan, 2002; Jolicoeur & Dell'Acqua, 1999) observed T2 response slowing in an encoding-speeded response (ESR) paradigm where T2 followed a masked T1 that required identification but not a speeded response. T2 response slowing in the ESR paradigm is often indistinguishable from that in the PRP paradigm, prompting some researchers to postulate a common processing bottleneck for the two paradigms. With the use of the ESR paradigm, we observed T2 response slowing and, in contrast to the PRP paradigm, we also observed corresponding P3 delays. The results suggest that dissociable bottlenecks underlie the dual-task costs from the two paradigms.     

Apes' use of iconic cues in the object-choice task

In previous studies great apes have shown little ability to locate hidden food using a physical marker placed by a human directly on the target location. In this study, we hypothesized that the perceptual similarity between an iconic cue and the hidden reward (baited container) would help apes to infer the location of the food. In the first two experiments, we found that if an iconic cue is given in addition to a spatial/indexical cue - e.g., picture or replica of a banana placed on the target location - apes (chimpanzees, bonobos, orangutans, gorillas) as a group performed above chance. However, we also found in two further experiments that when iconic cues were given on their own without spatial/indexical information (iconic cue held up by human with no diagnostic spatial/indexical information), the apes were back to chance performance. Our overall conclusion is that although iconic information helps apes in the process of searching hidden food, the poor performance found in the last two experiments is due to apes' lack of understanding of the informative (cooperative) communicative intention of the experimenter.     

Must "service with a smile" be stressful? The moderating role of personal control for American and French employees

Suppressing and faking emotional expressions depletes personal resources and predicts job strain for customer-contact employees. The authors argue that personal control over behavior, in the job and within the national culture, provides compensatory resources that reduce this strain. With a survey study of 196 employees from the United States and France, the authors supported that high job autonomy buffered the relationship of emotion regulation with emotional exhaustion and, to a lesser extent, job dissatisfaction. The relationship of emotion regulation with job dissatisfaction also depended on the emotional culture; the relationship was weaker for French customer-contact employees who were proposed to have more personal control over expressions than U.S. employees. Theoretical and research implications for the emotion regulation literature and practical suggestions for minimizing job strain are proposed.     

REDUCING DISRUPTIVE BEHAVIORS OF ELEMENTARY PHYSICAL EDUCATION STUDENTS WITH SIT AND WATCH

This study reduced the disruptive behaviors of students in two elementary physical education classes: a regular fourth-grade class comprised of 30 students and an alternative education class containing 14 fourth- and fifth-grade boys with severe behavior problems. Using a multiple baseline design, we introduced a modified time-out procedure called “Sit and Watch.” The procedure reduced the frequency of disruptive behaviors by 95%. Sit and Watch proved to be socially acceptable to parents, school personnel, and the physical education teacher.