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.     

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.     

Consequence Mining

The standard semantic definition of consequence with respect to a selected set X of symbols, in terms of truth preservation under replacement (Bolzano) or reinterpretation (Tarski) of symbols outside X, yields a function mapping X to a consequence relation \(\Rightarrow_X\). We investigate a function going in the other direction, thus extracting the constants of a given consequence relation, and we show that this function (a) retrieves the usual logical constants from the usual logical consequence relations, and (b) is an inverse to—more precisely, forms a Galois connection with—the Bolzano–Tarski function.     

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.     

Event memory and suggestibility in abused and neglected children: trauma-related psychopathology and cognitive functioning

This study examined event memory and suggestibility in 3- to 16-year-olds involved in forensic investigations of child maltreatment. A total of 322 children were interviewed about a play activity with an unfamiliar adult. Comprehensive measures of individual differences in trauma-related psychopathology and cognitive functioning were administered. Sexually and/or physically abused children obtained higher dissociation scores than neglected children, and sexually abused children were more likely to obtain a diagnosis of posttraumatic stress disorder than physically abused children, neglected children, and children with no substantiated abuse histories. Overall, older children and children with better cognitive functioning produced more correct information and fewer memory errors. Abuse status per se did not significantly predict children’s memory or suggestibility whether considered alone or in interaction with age. However, among highly dissociative children, more trauma symptoms were associated with greater inaccuracy, whereas trauma symptoms were not associated with increased error for children who were lower in dissociative tendencies. Implications of the findings for understanding eyewitness memory in maltreated children are discussed.