The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing

The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium's database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.     

Diagnosis of ADHD in Adults: What Is the Appropriate DSM-5 Symptom Threshold for Hyperactivity-Impulsivity?

Objective: To empirically identify the appropriate symptom threshold for hyperactivity-impulsivity for diagnosis of ADHD in adults. Method: Participants were 88 adults (M [SD] age = 41.69 [11.78] years, 66% female, 16% minority) meeting formal DSM-IV criteria for ADHD combined or predominantly inattentive subtypes based on a structured diagnostic interview keyed to DSM-IV (Conners' Adult ADHD Diagnostic Interview for DSM-IV [CAADID]). All participants also completed the Conners' Adult ADHD Rating Scale (CAARS), which was normed on the general adult population and includes subscales for DSM-IV inattentive and DSM-IV hyperactive-impulsive symptoms. A T-score threshold of 65 (at least 1.5 SD above population mean) on the CAARS DSM-IV hyperactive-impulsive dimension was used to identify participants with empirically elevated symptom severity. Results: Of 88 participating adults, 48 (55%) had a T-score of at least 65 (1.5 SD) on the CAARS DSM-IV Hyperactive-Impulsive scale. Of these, only 25 (52%) met the DSM-IV cutoff of six hyperactive-impulsive symptoms on the CAADID. Thus, approximately half of those who reported empirically elevated hyperactive-impulsive complaints on the CAARS did not concurrently meet the six-symptom DSM-IV cutoff on the CAADID. An alternative cutoff of four hyperactive-impulsive symptoms on the CAADID captured 39 (81%) cases identified by the CAARS. Conclusion: In adults, mandating at least six hyperactive-impulsive symptoms excludes a significant percentage (almost half) of adults who are at least 1.5 SD above the population mean on a dimensional measure of hyperactivity-impulsivity. These data provide a compelling basis for lowering the symptom threshold of hyperactivity-impulsivity for adults in the DSM-5.     

Treating disturbed emotional regulation in sexual offenders: The potential applications of mindful self-regulation and controlled breathing techniques

It has been noted that some offenders are characterized by problems in the appropriate regulation of emotional states. Deficits in emotional regulation are particularly pertinent in sexual offenders. Therefore, therapeutic programs should, in part, focus on the development of effective strategies for the control of emotional arousal. In this review, we will provide an outline of how anatomical structures including the amygdala and regions of the prefrontal cortex (PFC) are involved in the appropriate regulation of emotion. It is argued in this paper that the effective control of emotional states may be helped through the adoption of a group of meditational practices, known as mindfulness techniques, which have emerged from Buddhist philosophy. These techniques involve slow, deep breathing and have been shown to affect vagal modulation of the heart and the functioning of specific neural circuits which are critically involved in emotional regulation.     

Feeling stuck in the present? Mania proneness and history associated with present-oriented time perspective

Humans have the ability to mentally time travel through past, present, and future. But can a disruption in emotion characteristic of emotional disorders cause this ability to unwind, leaving people "stuck" in the present emotional moment? Two studies are presented that examine emotional time-perspective in a disorder (mania) characterized by present-oriented tendencies, including impulsivity and emotion dysregulation. In Study 1, associations were reported between mania proneness and emotion time-perspective (n = 509), and Study 2 compared emotion time-perspective between individuals with a clinical history of mania (n = 32), and controls (n = 30). We show that mania is associated with increased present and decreased future focus. These findings suggest that emotional disorders can be understood, at least in part, by examining how people understand and use time to guide their behavior and feelings.     

Mapping emotions through time: how affective trajectories inform the language of emotion

The words used to describe emotions can provide insight into the basic processes that contribute to emotional experience. We propose that emotions arise partly from interacting evaluations of one's current affective state, previous affective state, predictions for how these may change in the future, and the experienced outcomes following these predictions. These states can be represented and inferred from neural systems that encode shifts in outcomes and make predictions. In two studies, we demonstrate that emotion labels are reliably differentiated from one another using only simple cues about these affective trajectories through time. For example, when a worse-than-expected outcome follows the prediction that something good will happen, that situation is labeled as causing anger, whereas when a worse-than-expected outcome follows the prediction that something bad will happen, that situation is labeled as causing sadness. Emotion categories are more differentiated when participants are required to think categorically than when participants have the option to consider multiple emotions and degrees of emotions. This work indicates that information about affective movement through time and changes in affective trajectory may be a fundamental aspect of emotion categories. Future studies of emotion must account for the dynamic way that we absorb and process information.     

Latent class analysis of eating disorders: relationship to mortality

The current diagnostic nomenclature for eating disorders has shortcomings. Empirical attempts to identify a new nomenclature have found numerous latent structures, but validation of this work has been largely cross-sectional, and nothing is known yet about the relationship of derived latent classes to mortality. This study examined latent diagnostic structure in 1,885 participants seeking outpatient eating disorder treatment over an 18-year period. Eating disorder symptoms were used as indicators, and the main validator was mortality as assessed using computerized linkage to the National Death Index. Six latent classes were derived; three of the six had significantly elevated standardized mortality ratios. It appeared that the latent class structure yielded better delineation of mortality risk than the existing classifications in the Diagnostic and Statistical Manual of Mental Disorders. These results provide support for an alternative, empirically derived diagnostic structure.     

The Illusion-of-Transparency and Episodic Memory: Are People Egocentric or Do People Think that Lies are Easy to Detect?

The illusion-of-transparency seems like an egocentric bias, in which people believe that their inner feelings, thoughts and perspectives are more apparent to others than they actually are. In Experiment 1, participants read out true and false episodic memories to an audience. Participants over-estimated the number of people who would think that they were the liar, and they overestimated how many would correctly identify the liar. Experiment 2 found that with lessened task demands, and by using a scale of doubt, participants distinguished lies from truthful statements (albeit with a degree of error). Over the two experiments, results indicated that people have some ability to distinguish lies from truth (in illusion-of-transparency tasks), although people often overestimate this ability, and participants sometimes think their own lies are easier to detect than is really the case.     

Stress, Cortisol, and Externalizing Behavior in Adolescent Males: An Examination in the Context of Multisystemic Therapy

Stress and hypothalamic-pituitary-adrenal (HPA) axis dysregulation have been associated with externalizing behavior in adolescence, but few studies have examined these factors in a treatment context. This study investigated the relationship between stress, cortisol, and externalizing behavior among 120 adolescent males (mean age?=?15) receiving Multisystemic Therapy (MST). To examine the differential relationship of cortisol with various types of stressors, self-report measures assessed lifetime stress, current episodic stress, and daily hassles. Morning and afternoon cortisol samples were collected to examine whether the relationship between stress and treatment outcome depended on the youth's biological stress levels. Regression analyses indicated that awakening cortisol levels moderated the relationship between daily hassles and externalizing behaviors at post-treatment. More specifically, higher levels of daily hassles predicted worse outcomes only among adolescents with high levels of morning cortisol. In addition, lifetime stressors and afternoon measures of cortisol interacted to predict changes in caretaker reports of externalizing problems and youth arrests following treatment; lifetime stressors were positively associated with externalizing behavior when adolescents had low levels of afternoon cortisol. Implications for theory and future directions for evidence-based treatment are discussed.     

The Role of Structure Versus Individual Agency in Churches�� Responses to HIV/AIDS: A Case Study of Baltimore City Churches

This paper examines the activities of churches in Baltimore, Maryland, concerning the issues of sexuality, whether they potentially stigmatize persons with or at risk for HIV/AIDS, and to what extent individual agency versus institutional forces influence churches in this regard. In-depth interviews were conducted with 20 leaders from 16 churches and analyzed using a grounded theory methodology. Although many churches were involved in HIV/AIDS-related activities, the content of such initiatives was sometimes limited due to organizational constraints. Church leaders varied, however, in the extent to which they responded in accordance with or resisted these constraints, highlighting the importance of individual agency influencing churches?? responses to HIV/AIDS.