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.     

Temperament and Happiness in Children in India

The relation between temperament and happiness was assessed in a sample of 441 children aged 7–14 years drawn from a population in Northern India. Parents assessed their children’s happiness and rated their children’s temperament using the Emotionality, Activity, and Sociability Temperament Survey (EAS). Children self-reported their own happiness using a single-item measure, the Oxford Happiness Scale Short Form, and the Subjective Happiness Scale. Parents’ temperament ratings conformed to the four factor structure proposed by Buss and Plomin (Temperament: early developing personality traits. Lawrence Erlbaum Associates, Hillsdale, 1984): Emotionality, Activity, Sociability, and Shyness. Temperament accounted for between 4 and 11% of the variance in children’s happiness depending on the measures. Children who were more social and active, and less shy, were happier. This result parallels the well-established relation between happiness and personality in adults and is similar to recent research on happiness and temperament in children; temperament traits akin to extraversion were positively associated with happiness. However, despite that neuroticism and its temperament counterpart are strongly and consistently linked to happiness in adults, the relation between happiness and the temperament trait associated with neuroticism (i.e., Emotionality) was weak. This suggests that the relations between temperament and happiness in children may not completely generalize across cultures.     

Personal Growth and Meaning in Life Among First-Time Mothers and Grandmothers

This cross-sectional study examined personal growth and meaning in life among mothers and grandmothers who recently went through major transitions in a woman’s life. It investigated the contribution of the internal resources of perception of self (self-esteem) and perceived characteristics of the situation (cognitive appraisal of threat, challenge, and self-efficacy) and the external resource of perceived social support, as well as two background variables: age, and frequency of meetings between mothers and grandmothers. Participants were 152 first-time mothers 6–24?months after delivery, and their own mothers who were first-time grandmothers (n?=?152). The results showed differential contributions to meaning in life and personal growth in the two generations, indicating that the proposed variables can indeed explain growth and meaning in life in these life stages. They reveal not only the similarities and differences between the response of mothers and grandmothers to these parallel life transitions, but also how information about one generation may help explain the response of the other. The different patterns of associations which emerged for growth and meaning in life are also discussed.     

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.     

Reliability of the Go/No Go Association Task

The Go/No Go Association Task (GNAT; Nosek & Banaji, 2001) is an implicit measure with broad application in social psychology. It has several conceptual strengths to recommend it over other implicit methods, but the belief that it has poor reliability coupled with the absence of a method for calculating this important psychometric property has hindered its wider acceptance and use. Using data obtained from six GNAT studies covering a wide range of content areas, Study 1 compares the properties of different methods for estimating reliability of the GNAT. Study 2 demonstrates a resampling procedure to investigate how reliability varies as a function of block length. Study 1 shows that with appropriately chosen stimuli the GNAT can be a very reliable measure, while Study 2 indicates that as an empirical rule of thumb 50 to 80 trials per block should yield adequate to very good reliability. However, researchers are urged to calculate their own reliability coefficients, to this end we discuss GNAT design issues and provide procedures for calculating GNAT reliability which we hope will enhance the utility of the GNAT as a measure and promote its use in studying implicit cognition.     

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.