Genetic Counselors’ Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability

Expanded carrier screening (ECS), introduced in 2009, identifies carriers for dozens or hundreds of recessive diseases. At the time of its introduction into clinical use, perspectives of the genetic counseling community regarding ECS were unknown. We conducted a survey in early 2012 of GCs and report the results here. They represent a snapshot of opinions and usage at that time, providing a baseline for comparison as the technology continues to evolve and as usage increases. The survey assessed personal perspectives, opinions on clinical implementation and clinical utilization of ECS. The sample included 337 GCs of varying clinical fields, of whom 150 reported practicing in reproductive settings. Our findings demonstrate that, at the time, GCs indicated general agreement with ECS as a concept – for example, most GCs agreed that carrier screening should address diseases outside of current guidelines and also indicated personal interest in electing ECS. There were also disagreements or concerns expressed regarding appropriate pre- and post-test counseling (e.g., the content and delivery mode of adequate informed consent) and practical implementation (e.g., the amount of time available for follow-up care). This was the first quantitative study of a large number of GCs and it revealed initial overall support for ECS among the GC profession. The authors plan to re-administer a similar survey, which may reveal changes in opinions and/or utilization over time. A follow up survey would also allow further exploration of questions uncovered by these data.     

Vocal group signatures in the goitred gazelle Gazella subgutturosa

The potential for vocal modification in mammals has recently been of great interest. This study focuses on the potential for vocal matching in juvenile and adolescent goitred gazelles Gazella subgutturosa that were group housed as part of an animal management programme. Two groups of animals (16 and 19 unrelated individuals, respectively) were recorded at two different ages, juvenile and adolescent, regarding 20–25 calls per individual per age; each group was evaluated in a separate year. Vocal similarity of group members compared to non-members was prominent in both ages, but higher in juveniles. Individual identity was prominent in both ages and higher in adolescents. The more prominent vocal indicators of group membership in juveniles could be related to their higher social dependence compared to adolescents. The more individualized calls of adolescents could be a mechanistic consequence of more stable growth at older age. Our results suggest vocal plasticity of goitred gazelles under social influences. These data add to recent evidence about domestic goat kids Capra hircus, suggesting that vocalizations of species that are not capable of imitation are more flexible than previously thought.     

Identity and the Theory of Planned Behavior: Predicting Maintenance of Volunteering After Three Years

Is identity an important predictor of social behavior? The present longitudinal study is focused on identity in order to understand why people continue to volunteer over an extended period of time. The theory of planned behavior and the role identity model of volunteering are used as theoretical framework. Two hundred thirty Italian volunteers were sampled and followed for 3 years. We analyzed functions of role identity as a volunteer. Results showed a significant impact of role identity in predicting volunteer performance after 3 years, mediated through behavioral intentions. Role identity fully mediated the relationships between behavioral intention and attitude, social norms, past behavior and parental modelling.     

Familiar Verbs Are Not Always Easier Than Novel Verbs: How German Pre‐School Children Comprehend Active and Passive Sentences

Many studies show a developmental advantage for transitive sentences with familiar verbs over those with novel verbs. It might be that once familiar verbs become entrenched in particular constructions, they would be more difficult to understand (than would novel verbs) in non‐prototypical constructions. We provide support for this hypothesis investigating German children using a forced‐choice pointing paradigm with reversed agent‐patient roles. We tested active transitive verbs in study 1. The 2‐year olds were better with familiar than novel verbs, while the 2½‐year olds pointed correctly for both. In study 2, we tested passives: 2½‐year olds were significantly below chance for familiar verbs and at chance for novel verbs, supporting the hypothesis that the entrenchment of the familiar verbs in the active transitive voice was interfering with interpreting them in the passive voice construction. The 3½‐year olds were also at chance for novel verbs but above chance with familiar verbs. We interpret this as reflecting a lessening of the verb‐in‐construction entrenchment as the child develops knowledge that particular verbs can occur in a range of constructions. The 4½‐year olds were above chance for both familiar and novel verbs. We discuss our findings in terms of the relative entrenchment of lexical and syntactic information and to interference between them.     

Evaluation of the effects a caregiver training programme has on the cognitive and functional maintenance of the elderly / Valoración de los efectos de un programa de formación de cuidadores sobre el mantenimiento cognitivo y funcional de ancianos

Abstract

With the increase in the elderly population comes a need to ensure they remain cognitively and functionally stable for as long as possible. Achieving this through a caregiver training programme based on the Person Centred Care (PCC) approach has been suggested. On this basis, the purpose of this study has been to evaluate the effectiveness of a caregiver training programme on the cognitive and functional maintenance of the elderly. The study sample comprised 56 elderly people and 14 caregivers, who were assessed using the MMSE, Clifton, Barthel, EuroQol, RMBPC (elderly) and SSFQ (caregivers) measurement scales. The results at intergroup level show significant differences in the pre-treatment assessment: the control group had higher scores for MMSE, Barthel, EuroQol and RMPBC scales, but that difference disappeared as scores for the treatment group increased. At an intragroup level, increases in scores were observed in the MMSE, Clifton and EuroQol scales for the treatment group and decreases in the Clifton, EuroQol and Barthel scales for the control group. From these results we can conclude that a caregiver training programme based on a PCC approach produces cognitive and functional benefits in the elderly. In addition, caregivers in the treatment group felt more competent, confident and satisfied with their work.     

Self-prospection and energization: The joint influence of time distance and consideration of future consequences

The way people envision their future (self-prospection) plays a key role in the energization required to pursue desired goals. We proposed that energization is determined by time distance from the imagined future-self and the individual’s consideration of future consequences (CFC). We hypothesized that, when imagining their distant (vs. near) future-self, individuals higher on CFC (i.e., those who construe a stronger link between present and future selves), would report greater energization. Participants completed the CFC scale, imagined their distant or near future-self, and reported their energy level. Imagining distant (vs. near) future-self fostered energy among participants higher on CFC (Experiments 1–2), an effect mediated by vividness of self-representations (Experiment 2). Self-prospection has implications for current states, and specifically for felt energy.     

Gratitude as a Variable of Mediation between Parental Support and Self-Esteem in Adolescence

Despite there has been a growing interest in the study of gratitude, few studies have investigated which factors support and promote it; notably, no study has yet addressed ways in which parents could promote gratitude in their children. The present study aims to investigate the relation between parental emotional support and self-esteem through the mediation of gratitude. The analyses have been conducted considering both the maternal and the paternal roles. To that end, an explorative model has been proposed of these relations. A self-report questionnaire was administered to 279 15–19 year-old adolescents (M?=?16.83, SD?=?.85) living in Northern Italy. Findings show that (a) the mother’s emotional support, but not the father’s, sustains gratitude, and (b) gratitude completely mediates the relation between maternal emotional support and self-esteem. Limitations and research implications are discussed.     

Normalisation Versus Medicalisation of Sexual Disturbances During Menopause: A Qualitative Research in the Italian Context

Past research has found consistent correlations between menopause and increase in sexual disturbances, but very little research has inquired into the attribution of meanings to this change from the womens’ own perspectives and the role of the negotiating between sexes in the social-construction of the problem. This study aims to investigate how professionals, women diagnosed with hypoactive sexual desire disorder and ordinary people, both men and women, signify this phenomenon in the Italian context. Interviews were conducted by asking participants whether or not they considered the decrease in sexual desire to be a problem, and what this was dependent on. The analysis of the 146 participants’ answers revealed that women with sexual deficit emphasized the need for treating the biological changes of menopause; specialists considered both the gynecological and the psychological components, while ordinary people seemed to ‘normalise’ the problem, encoding it as the effect of menopause; they did not seem to be inclined to turn the situation into a call for help, suggesting the importance of sharing the problem within the relationship and underestimating the organic level of the question. The negotiation between sexes seems to transform a sexual problem into normality.     

Adaptive psychophysical procedures, loss functions, and entropy

In this article, we present a new strategy for locating a point on a psychometric function (threshold determination) for yes-no procedures, called EntFirst. Our results show that it performs better than many existing strategies for estimating the 50% threshold that are commonly used in nonlaboratory settings. We also provide a review of existing algorithms for finding thresholds, with an emphasis on identifying the types of problems for which each algorithm is useful. Finally, we address a number of issues that are not adequately covered in the literature, including choosing an appropriate loss function to evaluate the performance of an algorithm for a given problem.     

Personality and coping in neuropathic chronic pain: a predictable divorce

We approach the problem about relationships between personality dimensions and the use of coping strategies in chronic pain patients. The most frequently used theoretical model in the area of stress and its relation to pain is the transactional model, taking into account that the incorporation of personality traits improves predictions via coping in the stress process. Following the Big Five model, the relationships between personality and coping strategies in patients with chronical neuropathic pain were established. The results showed slight relationships between the Big-Five dimensions and coping. A vulnerable personality profile in patients with chronic neuropathic pain was obtained, consisting of high neuroticism, low extraversion, openness to experience and responsibility, and moderate agreeableness.