Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors

The National Society of Genetic Counselors' (NSGC) recommendations for fragile X syndrome (FXS) genetic counseling are intended to assist health care professionals who provide genetic counseling for individuals and families in whom the diagnosis of FXS is strongly suspected or has been made. The recommendations are the opinions of genetic counselors with expertise in FXS counseling and are based on clinical experience, a review of pertinent English language medical articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a particular client.     

A Method for Analyzing Videotaped Genetic Counseling Sessions

This study describes the development and evaluation of a multi-item scale for analyzing the genetic counseling process, the Manchester Observation Code (MOC) for genetic counseling. The instrument is specific to the field of genetic counseling and is designed for analysis of the communication between counselor and client. Coding is done directly from videotaped sessions. Because communication is the means by which genetic counseling is accomplished, the method measures four relevant components of communication: (1) grammatical form, (2) purpose, (3) subject, and (4) cue source. The instrument enables an observer to code the counselor's statements into these four components. Three videotaped sessions were used to measure interrater reliability, or the consistency of rating for each of the four communication domains using this method. Three videotaped sessions were also used to measure test-retest reliability, or the consistency of the designed method from one time to another. A total of 21 videotaped sessions were tested using the method. A statistical measure of reliability established consistency of the designed method; Cohen's kappa yielded 0.7 for interrater reliability and 0.79 for test-retest reliability. These findings suggest this instrument may be used to identify important elements of the genetic counseling process.     

Analysis of regional environment and regional innovation strategy based on cybernetics

In this paper, based on the perspective of carbon emissions, the regional environment and regional innovation strategies were analyzed by using cybernetics. The main idea was to calibrate the diesel engine simulation model with predictive function based on the data collected from the bench test, and then according to the simulation model, the genetic algorithm was applied to optimize the EGR parameters and fuel injection parameters with the target of emission generation and output torque. First of all, the combustion process and emission performance of diesel engine with internal exhaust re-circulation were studied by genetic algorithm, and the genetic algorithm model was constructed. Then, the genetic algorithm program was written based on Matlab. In addition, taking the NOx emission as the target, and the Soot emission and the output torque of the original machine as constraints, through the joint simulation of Matlab and GT-Power, the EGR parameters and fuel injection parameters of the 10% to 50% load conditions were optimized at the speed of 1500 r/min and 2000 r/min. Finally, the validity of this method was verified and analyzed.     

Emotion recognition training using composite faces generalises across identities but not all emotions

Many cognitive bias modification (CBM) tasks use facial expressions of emotion as stimuli. Some tasks use unique facial stimuli, while others use composite stimuli, given evidence that emotion is encoded prototypically. However, CBM using composite stimuli may be identity- or emotion-specific, and may not generalise to other stimuli. We investigated the generalisability of effects using composite faces in two experiments. Healthy adults in each study were randomised to one of four training conditions: two stimulus-congruent conditions, where same faces were used during all phases of the task, and two stimulus-incongruent conditions, where faces of the opposite sex (Experiment 1) or faces depicting another emotion (Experiment 2) were used after the modification phase. Our results suggested that training effects generalised across identities. However, our results indicated only partial generalisation across emotions. These findings suggest effects obtained using composite stimuli may extend beyond the stimuli used in the task but remain emotion-specific.     

疼痛恐惧相关的注意偏向及其矫正

疼痛恐惧是影响和维持慢性痛的重要因素。不同材料和被试类型情况下, 疼痛恐惧均主要作用于个体对疼痛相关信息的早期注意加工阶段, 表现为注意警觉模式。该注意模式使个体将注意维持在疼痛上, 从而干扰了对非疼信息的注意能力。矫正疼痛恐惧相关注意偏向可以改善疼痛体验。未来研究应采用更具生态效度的任务测量疼痛恐惧相关的注意偏向及其神经基础, 进一步考察矫正疼痛恐惧相关注意偏向能否改善慢痛患者的忧郁和功能丧失等问题。     

Biased interpretation in perfectionism and its modification

Perfectionism is a transdiagnostic construct associated with a range of diagnoses, including depression, eating disorders and obsessive compulsive disorder. Treatments that directly target perfectionist cognitions have been shown to successfully reduce associated pathologies. However, the way in which they do this is not clear. We set out to assess the role of one candidate mechanism of action, namely the cognitive process of interpretation of ambiguity. In one experiment we looked for associations between biased interpretation and perfectionism. In a second, we manipulated interpretations, thereby providing a strong test of their aetiological significance. Results from the first experiment confirmed the presence of biased interpretation in perfectionism and demonstrated that these are highly specific to perfection relevant information, rather than reflecting general negativity. The second experiment succeeded in manipulating these perfection relevant interpretations and demonstrated that one consequence of doing so is a change in perfectionist behaviour. Together, these data experimentally demonstrate that biased interpretation of perfection relevant ambiguity contributes to the maintenance of perfectionism, but that it is also possible to reverse this. Clinical implications include the identification of one likely mechanism of therapeutic change within existing treatments, as well as identification of an appropriate evidence-based focus for future treatment development. Targeting underlying functional mechanisms, such as biased interpretation, has the potential to offer transdiagnostic benefits.     

老年刻板印象威胁及其研究操纵

随着人口老龄化的不断加剧, 老年刻板印象威胁受到越来越多的关注。不同于种族或民族、性别等刻板印象威胁, 老年刻板印象威胁表现出累积性、共通性与连续性等特征。目前关于老年刻板印象威胁的研究多集中于认知老化尤其是记忆老化上, 关注老年刻板印象威胁对老年司机和老年员工的消极影响。消除与降低老年刻板印象威胁的消极效应可以从认知改变、群体认同、代际接触、老龄自我实现和个性化以及媒体宣传等五个方面来进行。在实验室研究中, 老年刻板印象威胁有外显与内隐两种不同的操纵形式。未来可以从扩展研究领域、细化“年龄”差异、比较整体效应大小和性别差异、侧重积极效应以及加强本土化检验和跨文化比较研究等方面来深化。     

Neuroticism and extraversion share genetic and environmental effects with negative and positive mood spillover in a nationally representative sample

Work-family spillover research focuses on how negative and positive moods in one life domain carry over to another. Domain-specific etiologies (e.g., family conflict) are often emphasized to explain spillover. Yet, strong correlations exist between spillover variables of the same emotional valence but originating from different domains, suggesting individual differences in the tendencies to prolong mood-states. The current study (N = 1143 individuals) examined whether these general tendencies are associated with neuroticism and extraversion and how genetic and environmental effects contribute to these associations. Findings revealed that neuroticism and extraversion are related to these tendencies through both genetic and environmental pathways.     

Differential Genetic and Environmental Influences on Reactive and Proactive Aggression in Children

While significant heritability for childhood aggression has been claimed, it is not known whether there are differential genetic and environmental contributions to proactive and reactive forms of aggression in children. This study quantifies genetic and environmental contributions to these two forms of aggression in an ethnically diverse urban sample of 9–10 year old twins (N = 1219), and compares results across different informants (child self-report, mother, and teacher ratings) using the Reactive–Proactive Aggression Questionnaire (RPQ). Confirmatory factor analysis of RPQ items indicated a significant and strong fit for a two-factor proactive–reactive model which was significantly superior to a one-factor model and which replicated across gender as well as the three informant sources. Males scored significantly higher than females on both self-report reactive and proactive aggression, findings that replicated on mother and teacher versions of the RPQ. Asian–Americans scored lower than most ethnic groups on reactive aggression yet were equivalent to Caucasians on proactive aggression. African–Americans scored higher than other ethnic groups on all measures of aggression except caregiver reports. Heritable influences were found for both forms of aggression across informants, but while boys’ self-reports revealed genetic influences on proactive (50%) and reactive (38%) aggression, shared and non-shared environmental influences almost entirely accounted for girls’ self-report reactive and proactive aggression. Although genetic correlations between reactive and proactive aggression were significant across informants, there was evidence that the genetic correlation was less than unity in boys self reported aggression, indicating that genetic factors differ for proactive and reactive aggression. These findings provide the first evidence for varying genetic and environmental etiologies for reactive and proactive aggression across gender, and provide additional support for distinction between these two forms of aggression.     

Psychiatric Disorders in Clinical Genetics I: Addressing Family Histories of Psychiatric Illness

This is the first article of a two-part professional development series addressing genetic counseling for personal and family histories of psychiatric disorders. It is based on an Educational Breakout Session presented by the Psychiatric Special Interest Group of the National Society of Genetic Counselors at the 2006 Annual Education Conference. This article examines issues that arise in addressing family histories of psychiatric illness, while the second article in the series considers the generation and provision of individualized recurrence risks for psychiatric disorders. In this article we discuss the importance of managing uncertainty for affected individuals and their close family members who have been referred to genetics for a number of different indications. We then use four simulated cases to make recommendations about the scope and timing of discussions related to the psychiatric family history.