Elucidating Genetic Counseling Outcomes from the Perspective of Genetic Counselors

Outcomes in the field of genetic counseling have not been well-defined or categorized, despite pressures to provide evidence-based measures in all areas of healthcare. This study describes a process to elucidate and categorize a wide-ranging set of outcomes as characterized by diverse groups of practicing genetic counselors. Semi-structured focus groups were conducted at the National Society of Genetic Counselors 2013 NSGC Annual Education Conference during an educational breakout session. A general inductive qualitative research approach was utilized to code focus group notes, categorize them into themes, and compare them across specialty groups. A total of 107 individuals participated in 14 focus groups, consisting of specialists in cancer (n = 20), general genetics (n = 40), prenatal genetics (n = 11), and “other” (n = 36). Of the twelve genetic counseling outcomes themes identified, the most common across focus groups included: 1) appropriateness of testing and accuracy of results interpretation; 2) psychosocial outcomes; 3) adherence to or receipt of appropriate medical management; and 4) patient and provider knowledge. Data assessed by specialty demonstrated similarities in outcomes themes, suggesting that a common set of genetic counseling outcomes would likely be appropriate to cover the majority of needs for the profession. Results can serve as a platform from which to build a more well-defined and comprehensive set of outcomes.     

Dental pain related to quality of life and mental health in South Korean adults

High levels of stress, anxiety and depression have been reported in patients with orofacial pain. Dental pain has the potential to reduce quality of life (QOL), and pain relief is important aspect of QOL. The purpose of this study was to assess the relationships of dental pain with QOL and mental health using a nationally representative, population-based study. This study analyzed data from the 2012 Korea National Health and Nutrition Examination Survey (N = 5469). Oral health status was assessed using the oral health questionnaire, and oral examination was performed by trained dentists. Health-related QOL (HRQOL) was evaluated using EQ-5D and EQ-VAS, and mental health was evaluated by questionnaires. Logistic regression was applied to estimate adjusted odds ratios (AOR) and 95% confidence intervals (CI). Among 5469 adults, 1992 (36.42%) presented self-reported dental pain. Participants with anxiety/depression or pain/discomfort, and participants with stress, melancholy, suicidal thought or depression showed significantly higher prevalence of dental pain. After adjusting for covariates, five aspects of QOL and five aspects of mental health were related with dental pain. The AORs (95% CI) for dental pain were 1.39 (1.06–1.81) for mobility, 1.77 (1.19–2.63) for self-care, 1.38 (1.02–1.85) for usual activities, 1.73 (1.43–2.09) for pain/discomfort and 1.50 (1.13–1.98) for anxiety/depression. For mental health status factors, the AORs (95% CI) for dental pain were 1.29 (1.11–1.51) for stress, 1.37 (1.09–1.74) for melancholy, 1.26 (1.01–1.58) for suicidal thoughts, 1.43 (.93–2.19) for consultation to psychiatrist and 1.53 (1.07–2.19) for depression. This study showed that dental pain has an association with lower HRQOL and worse mental health status in South Korean adults.     

Antarctic skuas recognize individual humans

Recent findings report that wild animals can recognize individual humans. To explain how the animals distinguish humans, two hypotheses are proposed. The high cognitive abilities hypothesis implies that pre-existing high intelligence enabled animals to acquire such abilities. The pre-exposure to stimuli hypothesis suggests that frequent encounters with humans promote the acquisition of discriminatory abilities in these species. Here, we examine individual human recognition abilities in a wild Antarctic species, the brown skua (Stercorarius antarcticus), which lives away from typical human settlements and was only recently exposed to humans due to activities at Antarctic stations. We found that, as nest visits were repeated, the skua parents responded at further distances and were more likely to attack the nest intruder. Also, we demonstrated that seven out of seven breeding pairs of skuas selectively responded to a human nest intruder with aggression and ignored a neutral human who had not previously approached the nest. The results indicate that Antarctic skuas, a species that typically inhabited in human-free areas, are able to recognize individual humans who disturbed their nests. Our findings generally support the high cognitive abilities hypothesis, but this ability can be acquired during a relatively short period in the life of an individual as a result of interactions between individual birds and humans.     

Adult attention and interaction can increase moderate‐to‐vigorous physical activity in young children

Evidence suggests that physical inactivity is prevalent among young children. To combat this, one recommendation for caregivers is to become actively involved in their child's physical activities. However, this general recommendation does not specify how or when a parent should become involved. The purpose of the current study was to conduct a functional analysis to identify a social consequence that would increase the moderate‐to‐vigorous physical activity (MVPA) exhibited by preschool‐aged children, and then to compare the effects of that social consequence when it was provided contingent on MVPA and when provided independent of MVPA. The results of the functional analyses indicated that 3 of 7 children were most active when attention or interactive play was provided contingent on MVPA. Results of the intervention analysis suggested that caregivers of young children should provide attention or interactive play contingent on MVPA when those consequences are identified as reinforcers in a functional analysis.     

A Bayesian Power Analysis Procedure Considering Uncertainty in Effect Size Estimates from a Meta-analysis

In conventional frequentist power analysis, one often uses an effect size estimate, treats it as if it were the true value, and ignores uncertainty in the effect size estimate for the analysis. The resulting sample sizes can vary dramatically depending on the chosen effect size value. To resolve the problem, we propose a hybrid Bayesian power analysis procedure that models uncertainty in the effect size estimates from a meta-analysis. We use observed effect sizes and prior distributions to obtain the posterior distribution of the effect size and model parameters. Then, we simulate effect sizes from the obtained posterior distribution. For each simulated effect size, we obtain a power value. With an estimated power distribution for a given sample size, we can estimate the probability of reaching a power level or higher and the expected power. With a range of planned sample sizes, we can generate a power assurance curve. Both the conventional frequentist and our Bayesian procedures were applied to conduct prospective power analyses for two meta-analysis examples (testing standardized mean differences in example 1 and Pearson's correlations in example 2). The advantages of our proposed procedure are demonstrated and discussed.     

Reevaluating the two-representation model of numerical magnitude processing

One debate in mathematical cognition centers on the single-representation model versus the two-representation model. Using an improved number Stroop paradigm (i.e., systematically manipulating physical size distance), in the present study we tested the predictions of the two models for number magnitude processing. The results supported the single-representation model and, more importantly, explained how a design problem (failure to manipulate physical size distance) and an analytical problem (failure to consider the interaction between congruity and task-irrelevant numerical distance) might have contributed to the evidence used to support the two-representation model. This study, therefore, can help settle the debate between the single-representation and two-representation models.     

The Relationship Between Nonsuicidal Self‐Injury and Suicidal Ideation

This correlational study was conducted with 403 undergraduate college students from 2 universities. The authors used path analysis and bootstrap regression to analyze the relationships between variables. Locus of control and family connectedness related to current nonsuicidal self‐injury (NSSI) engagement. However, when entered into the same regression, the variables current NSSI engagement and current NSSI number of methods used mediated all other relationships with suicidal ideation. Implications to current theories and clinical practice are provided.     

Sleep disturbance and neuropsychological function in young children with ADHD

Sleep disturbance, common among children with ADHD, can contribute to cognitive and behavioral dysfunction. It is therefore challenging to determine whether neurobehavioral dysfunction should be attributed to ADHD symptoms, sleep disturbance, or both. The present study examined parent-reported sleep problems (Children’s Sleep Habits Questionnaire) and their relationship to neuropsychological function in 64 children, aged 4–7 years, with and without ADHD. Compared to typically developing controls, children with ADHD were reported by parents to have significantly greater sleep disturbance—including sleep onset delay, sleep anxiety, night awakenings, and daytime sleepiness—(all p ≤ .01), and significantly poorer performance on tasks of attention, executive control, processing speed, and working memory (all p < .01). Within the ADHD group, total parent-reported sleep disturbance was significantly associated with deficits in attention and executive control skills (all p ≤ .01); however, significant group differences (relative to controls) on these measures remained (p < .01) even after controlling for total sleep disturbance. While sleep problems are common among young children with ADHD, these findings suggest that inattention and executive dysfunction appear to be attributable to symptoms of ADHD rather than to sleep disturbance. The relationships among sleep, ADHD symptoms, and neurobehavioral function in older children may show different patterns as a function of the chronicity of disordered sleep.