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.     

Disability and Life Satisfaction in Italy

During the last decades, the socio-economic policy agenda has devoted an increasing attention to the inclusion of disabled people into society. It follows that understanding the drivers of life outcomes and conditions of disabled people is essential to analyze the sources of disadvantaged positions.This paper brings evidence on the predictors of life satisfaction of disabled people in Italy, focusing on four specific dimensions (relations with relatives and friends, economic conditions, and leisure time) and analyzing information on people with functional limitations and health problems, as provided by the 2011 ISTAT survey.Estimation results show that household structure, health and disability status affect life satisfaction more significantly than personal and income variables. Education attainments significantly affect satisfaction with the economic conditions. In addition, support in daily activities may increase satisfaction with economic conditions and leisure time, suggesting that providing non-monetary support would be effective in increasing life satisfaction, especially in those domains requiring freedom of movement. Finally, we find that older disabled people are, on average, more satisfied than younger disabled people, while gender is relevant when interacted with the household type.     

Health-Related Quality of Life in a National Sample of Caregivers: Findings from the Behavioral Risk Factor Surveillance System

Purpose Recent national public health agendas, such as Healthy People 2010, call for improved public health surveillance and health promotion programs for people with disabilities and their caregivers. The goal of this study was to understand the public health impact of caregiving on health-related quality of life (HRQoL) using population-level data. Design & Methods A cross-sectional study design was used. 184,450 adults surveyed during the 2000 national Behavioral Risk Factor Surveillance System survey formed the sample. Binary logistic regression models ascertained differences between caregivers and non-caregivers in reporting reduced (“fair” or “poor”) health. Ordinary least squares regression (OLS) and multinomial logistic regression models examined the influence of caregiving status on HRQoL, measured as categories of healthy days reported in the last 30 days and the number of days reported as physical and mental health not good in the last 30 days. Results Sixteen percent (16%) of the survey respondents were caregivers. There was an interaction effect between caregiving status and age of the caregiver. In the fully adjusted models, caregivers <55 years old had a 35% increased risk of having fair or poor health (odds ratio [OR] = 1.35, 95% confidence interval [CI] 1.28, 1.43) as compared to non-caregivers in that age group, while caregivers 55 years and older had a 3% decreased risk in having fair or poor health (OR = 0.97, 95% confidence interval [CI] 0.92, 1.03) compared to non-caregivers of the same age. In the adjusted models that examined the association of caregiving and healthy days, younger caregivers similarly showed larger deficits in both mental and physical HRQoL compared to older caregivers. For example combining mental and physical days, caregivers <55 had 1.44 fewer healthy days (β = −1.44, standard error (SE) = 0.07), while caregivers 55+ had 0.55 fewer days *β = −0.55, standard error (SE) = 0.13 (compared to non-caregivers in their respective age groups). Implications With increasing population age and the projected increase in caregivers, it is important that we understand the social and public health burden of caregiving and begin to identify interventions to sustain the HRQoL of caregivers. We found that caregivers have a slight to modest decline in HRQoL compared to non-caregivers, and that caregiving affects the HRQoL of younger adults more than older adults. Further research at the population level as to the type and level of burden of caregiving is needed.     

Sexual values among Latino youth: measurement development using a culturally based approach

Latino youth in the United States are at higher risk for negative sexual outcomes compared to their European American counterparts. Adherence to traditional sexual values may protect against or increase their risk. Past studies have generally utilized proxy measures, such as acculturation, to assess sexual values. The objective of the current study was to develop and test culturally based sexual values measures among Latino youth. Focus groups and qualitative interviews were conducted to generate themes related to sexual values. Six measures were developed: three related to gender role norms (Sexual Talk as Disrespectful, Satisfaction of Sexual Needs as Important, Female Virginity as Important) and three related to comfort regarding sexuality (Comfort with Sexual Communication, Sexual Comfort, and Sexual Self-Acceptance). The scales' psychometric properties were assessed in a sample of 694 sexually active young Latinos. Results indicate that these measures conformed to single-factor scales and displayed acceptable reliabilities. Correlations with conceptually related measures were in hypothesized directions. Findings suggest it is feasible to directly assess sexual values in a valid and reliable manner. The measures presented in the current article represent tools for such assessment.     

Association between polymorphisms in the dopamine transporter gene and depression: evidence for a gene-environment interaction in a sample of juvenile detainees

Previous research has generated examples of how genetic and environmental factors can interact to create risk for psychopathology. Using a gene-by-environment (G x E) interaction design, we tested whether three polymorphisms in the dopamine transporter gene (DAT1, also referred to as SLC6A3, located at 5p15.33) interacted with maternal parenting style to predict first-onset episodes of depression. Participants were male adolescents (N= 176) recruited from a juvenile detention center in northern Russia. As hypothesized, one of the polymorphisms (rs40184) moderated the effect of perceived maternal rejection on the onset of major depressive disorder, as well as on suicidal ideation. Further, this G x E interaction was specific to depression; it did not predict clinically significant anxiety. These results highlight the need for further research investigating the moderating effects of dopaminergic genes on depression.     

The development of abstract syntax: Evidence from structural priming and the lexical boost

Structural priming paradigms have been influential in shaping theories of adult sentence processing and theories of syntactic development. However, until recently there have been few attempts to provide an integrated account that explains both adult and developmental data. The aim of the present paper was to begin the process of integration by taking a developmental approach to structural priming. Using a dialog comprehension-to-production paradigm, we primed participants (3–4 year olds, 5–6 year olds and adults) with double object datives (Wendy gave Bob a dog) and prepositional datives (Wendy gave a dog to Bob). Half the participants heard the same verb in prime and target (e.g. gave–gave) and half heard a different verb (e.g. sent–gave). The results revealed substantial differences in the magnitude of priming across development. First, there was a small but significant abstract structural priming effect across all age groups, but this effect was larger in younger children than in older children and adults. Second, adding verb overlap between prime and target prompted a large, significant increase in the priming effect in adults (a lexical boost), a small, marginally significant increase in the older children and no increase in the youngest children. The results support the idea that abstract syntactic knowledge can develop independently of verb-specific frames. They also support the idea that different mechanisms may be needed to explain abstract structural priming and lexical priming, as predicted by the implicit learning account (Bock, K., & Griffin, Z. M. (2000). The persistence of structural priming: Transient activation or implicit learning? Journal of Experimental Psychology – General, 129(2), 177–192). Finally, the results illustrate the value of an integrative developmental approach to both theories of adult sentence processing and theories of syntax acquisition.     

Grounding compositional symbols: no composition without discrimination

The classical computational conception of meaning has been challenged by the idea that symbols must be grounded on sensorimotor processes. A difficult question arises from the fact that grounding representations cannot be symbolic themselves but, in order to support compositionality, should work as primitives. This implies that they should be precisely identifiable and strictly connected with discriminable perceptual features. Ideally, each representation should correspond to a single discriminable feature. The present study was aimed at exploring whether feature discrimination is a fundamental requisite for grounding compositional symbols. We studied this problem by using Integral stimuli, composed of two interacting and not separable features. Such stimuli were selected in Experiment 1 as pictures whose component features are easily or barely discriminable (Separable or Integral) on the basis of psychological distance metrics (City-block or Euclidean) computed from similarity judgments. In Experiment 2, either each feature was associated with one word of a two-word expression, or the whole stimulus with a single word. In Experiment 3, the procedure was reversed and words or expressions were associated with whole pictures or separate features. Results support the hypothesis that single words are best grounded by Integral stimuli and composite expressions by Separable stimuli, where a strict association of single words with discriminated features is possible.     

Babies' logic activity: a differential study

From a neuroconstructivist point of view based on infant cognitive development, the aim of this study is to get to know and compare the logical organization and content of the spontaneous activity of babies with alternative developmental courses (typical babies and Down's Syndrome ones). A fundamental form of logic is observed since the beginning of babies' interaction with their environment. This protologic is constructed through their organised and significative activity with the environment and it results in the elaboration of logico-mathematical and physical knowledge. Using Systematic Observation, we recorded the spontaneous activity of n=20 babies, (n=10 typical babies, n=10 Down Syndrome babies), with a cognitive developmental level of 1; 3 years (15 months). Microgenetical and statistical analyses were applied and the results obtained showed a reduced logical content and organization of the activity of Down's Syndrome babies, which corroborates and amplifies the results of previous research works. These results make evident the need to plan early educational intervention in order to optimize babies' developmental resources.     

Researchers’ Perceptions of Ethical Authorship Distribution in Collaborative Research Teams

Science and Engineering Ethics - Authorship is commonly used as the basis for the measurement of research productivity. It influences career progression and rewards, making it a valued commodity in...