Association of the DAT1 genotype with inattentive behavior is mediated by reading ability in a general population sample

Attention deficit hyperactivity disorder (ADHD) and reading disability (RD) frequently co-occur in the child population and therefore raise the possibility of shared genetic etiology. We used a quantitative trait loci (QTL) approach to assess the involvement of the dopamine transporter (DAT1) gene polymorphism in mediating reading disability and poor attention in a general population sample of primary school children aged 6-11 years in the UK. The potential confounding effects of IQ and chronological age were also investigated. We found an independent association between the homozygous DAT1 10/10 repeat genotype and RD that was not accounted for by the level of ADHD symptoms. This finding suggests that the DAT1 gene polymorphism may influence a common neural mechanism underlying both reading acquisition and ADHD symptoms.     

Conceptual blending of high-level features and data-driven salience computation in melodic generation

Conceptual Blending (CB) theory describes the cognitive mechanisms underlying the way humans process the emergence of new conceptual spaces by blending two input spaces. CB theory has been primarily used as a method for interpreting creative artefacts, while recently it has been utilised in the context of computational creativity for algorithmic invention of new concepts. Examples in the domain of music include the employment of CB interpretatively as a tool to explain musical semantic structures based on lyrics of songs or on the relations between body gestures and music structures. Recent work on generative applications of CB has shown that proper low-level representation of the input spaces allows the generation of consistent and sometimes surprising blends. However, blending high-level features (as discussed in the interpretative studies) of music explicitly, is hardly feasible with mere low-level representation of objects. Additionally, selecting features that are more salient in the context of two input spaces and relevant background knowledge and should, thus, be preserved and integrated in new interesting blends has not yet been tackled in a cognitively pertinent manner. The paper at hand proposes a novel approach to generating new material that allows blending high-level features by combining low-level structures, based on statistically computed salience values for each high-level feature extracted from data. The proposed framework is applied to a basic but, at the same time, complicated field of music, namely melodic generation. The examples presented herein allow an insightful examination of what the proposed approach does, revealing new possibilities and prospects.     

Genetic Virtue Program: An Unfeasible Neo-Pelagian Theodicy?

In his article, “Genetic Engineering, Virtue-First Enhancement, and Neo-Irenaean Theodicy,” Mark Walker has ventured farther into science more than most when it comes to exploring theodicy. After exposing the Achilles heel of the traditional free-will defense, Walker develops the Irenaean and Augustinian responses to the anthropic problem. Most importantly for this discussion, Walker proceeds to propose Genetic-First-Enhancement as part of his neo-Irenaean theodicy formulation. Overall, there are two major concerns I raised: the impossibility of a gradient morality in the presence of free will, and the scientific impossibility of Genetic Virtue Program. However, my claims are falsifiable if future genetic modifications do indeed improve morality. Before that is proven, I agree with Walker that, yes, we should play God, albeit, with his proposed virtue-first program.     

Defending Cognitive Liberty in an Age of Moral Engineering

In 2009, Mark Walker first proposed the Genetic Virtue Project, advancing that science should explore using genetic engineering to eliminate moral evils just as it attempts to eliminate natural ones like disease. This seemed like an issue for the far future given the unique challenges. Walker focused on the wrong aspect of personhood, however, as moral engineering of the brain appears to be a more likely possibility. As early aspects of moral engineering the brain are in development, especially through the manipulation of the neural correlates of religious and political beliefs, emotions, and behaviors, I consider several issues surrounding this project so as to protect individual rights and prevent future harms. I advance an internal criterion for the field called Acceptability Across Ideologies to serve as a guide to protect against coercive and harmful technologies and analyze how current laws protecting cognitive liberty are lacking and in need of revision.     

Fluency disorders in genetic syndromes

The characteristics of various genetic syndromes have included “stuttering” as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list “stuttering” as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large).

An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings.

Educational objectives: The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.     

Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial and ethical implications of identifying at-risk individuals for hereditary breast and ovarian cancer (HBOC) through cancer risk assessment, with or without genetic susceptibility testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors’ Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment as well as the professional expertise of genetic counselors with significant experience in education and counseling regarding hereditary breast and ovarian cancer. Critical components of the process include the ascertainment of medical and family histories, determination and communication of cancer risk, assessment of risk perception, education regarding the genetics of HBOC, discussion of molecular testing for HBOC if appropriate (including benefits, risks and limitations) and any necessary follow-up. These recommendations do not dictate an exclusive course of management or guarantee a specific outcome. Moreover, they do not replace the professional judgment of a health care provider based on the clinical situation of a client.     

A National Survey of Genetic Counselors’ Personal Values

Personal values are motivational sources for an individual’s actions [Hitlin and Piliavin (Annual Review of Sociology 30:359–393, 2004)]. Genetic counselors’ values may influence their behaviors in clinical practice, but a profile of their personal values has not been identified empirically. In this study, 292 genetic counselors completed the Schwartz Universal Values Questionnaire (SUVQ; Schwartz, S. H. (1992). Universals in the content and structure of values: Theoretical advances and empirical tests in 20 countries. In M. Zanna (Ed.), Advances in experimental social psychology (pp. 1–65). Boston, MA: Academic.), a widely used measure of value types, and provided information about their demographic characteristics. Results indicate that respondents highly valued benevolence, self-direction, achievement, and universalism indicating a strong pattern of concern for the welfare of others. They placed considerably less value on stimulation, tradition, and power, which reflect personal interests. Respondents who reported practicing a religion scored significantly lower on stimulation and hedonism and higher on tradition and spirituality than those not practicing; married respondents and parents scored significantly lower on stimulation and achievement; and males scored higher on power than females. The value types are described, and training and research recommendations are provided.     

Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders

The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.     

Risky Communication: Pitfalls in Counseling About Risk,and How to Avoid Them

A genetic counselor is often faced with the difficult task of conveying a set of complex and highly abstract factors associated with the client's risk of developing a familial disorder. The client is faced with the even more difficult task of making significant health-related decisions about an event which may or may not eventuate. Although there is a large corpus of research on this topic, much of the knowledge on risk communication is difficult to apply in a practical context. In this paper we draw together some insights on risk communication and decision-making under conditions of uncertainty, and apply them directly to the problem of communicating familial cancer risk. In particular, we focus on the distinction between individual risk and observed frequencies of adverse events, various framing effects, and contextualizing risk communication. We draw attention to some of the potential pitfalls in counseling about risk and offer avenues for circumventing them.     

流式细胞术在骨髓增生异常综合征及再生障碍性贫血诊断中的应用

为探讨骨髓增生异常综合征患者与再生障碍性贫血患者骨髓髓系细胞的免疫表型变化,用流式细胞术检测骨髓增生异常综合征、再生障碍性贫血及正常对照髓系细胞的表面抗原。结果显示骨髓增生异常综合征组髓系细胞较正常对照组及再生障碍性贫血组表面抗原表达明显不同。因此,流式细胞术有助于二者的诊断及鉴别诊断。