Clinical Utility of Chromosomal Microarray Analysis of DNA from Buccal Cells: Detection of Mosaicism in Three Patients

Mosaic chromosomal abnormalities are relatively common. However, mosaicism may be missed due to multiple factors including failure to recognize clinical indications and order appropriate testing, technical limitations of diagnostic assays, or sampling tissue (s) in which mosaicism is either not present, or present at very low levels. Blood leukocytes have long been the “gold standard” sample for cytogenetic analysis; however, the culturing process for routine chromosome analysis can complicate detection of mosaicism since the normal cell line may have a growth advantage in culture, or may not be present in the cells that produce metaphases (the lymphocytes). Buccal cells are becoming increasingly utilized for clinical analyses and are proving to have many advantages. Buccal swabs allow for simple and noninvasive DNA collection. When coupled with a chromosomal microarray that contains single nucleotide polymorphic probes, analysis of buccal cells can maximize a clinician’s opportunity to detect cytogenetic mosaicism. We present three cases of improved diagnosis of mosaic aberrations using buccal specimens for chromosomal microarray analysis. In each case, the aberration was either undetectable in blood or present at such a low level it likely could have gone undetected. These cases highlight the limitations of certain laboratory methodologies for identifying mosaicism. We also present practice implications for genetic counselors, including clinic workflow changes and counseling approaches based on increasing use of buccal samples.     

Attitudes About Internet Support Groups Among Adolescents and Young Adults with Neurofibromatosis Type 1 and their Parents

Youth with neurofibromatosis type 1 (NF1) have multiple, complex symptoms associated with physical, social-emotional, and cognitive difficulties. In addition, caring for a child with NF1 can be extremely challenging for parents. Since research with other chronic illness populations suggests that social support, including internet support groups (ISGs), can be beneficial, this survey study aimed to determine the attitudes and preferences of adolescents and young adults with NF1 and parents of a child with NF1 regarding ISGs. Thirty patients and 30 caregivers completed a 24-item survey about ISGs. Many patients and parents are not aware of any ISGs for NF1, but are interested in using one in the future for a variety of reasons, including to get answers to their questions about NF1, to find out about research studies, and to discuss problems and concerns about NF1. Specific concerns of interest include physical, social-emotional, and cognitive aspects of NF1. ISGs have potential as a social support intervention within the NF1 community. ISGs for the NF1 population should include patients with NF1 (or parents of children with NF1) as well as a health professional, and both chat rooms and discussion boards likely would be well-received.     

Becoming a Caregiver: Experiences of Young Adults Moving into Family Caregiving Roles

Journal of Adult Development - While the vast majority of family caregivers struggle to find balance between different roles in their lives, young adult caregivers are faced with the atypical...     

The “Rod and Fran Test”: Relationship Priming Influences Cognitive-Perceptual Performance

We theorized that interpersonal relationships can provide structures for experience. In particular, we tested whether primes of same-sex versus mixed-sex relationships could foster cognitive-perceptual processing styles known to be associated with independence versus interdependence respectively. Seventy-two participants visualized either a same-sex or other-sex relationship partner and then performed two measures of cognitive-perceptual style. On a computerized Rod and Frame Test, individuals were more field-dependent after visualizing a mixed-sex versus same-sex relationship partner. On a measure involving perceptions of group behavior, participants demonstrated more holistic/contextually based perception after being primed with a female versus male relationship partner. These findings support the hypothesis that activated cognitive structures representing interpersonal relationships can shape individuals’ cognitive-perceptual performance.     

Experiential Avoidance: An Examination of the Construct Validity of the AAQ-II and MEAQ

Experiential avoidance (also referred to as acceptance or psychological flexibility) is a core construct of third-wave behavior therapies. It is the tendency to avoid uncomfortable thoughts or feelings, even when doing so has negative long-term consequences. In order for developments in experiential avoidance and third-wave behavior therapies to continue, it is imperative to examine the construct validity of the most widely used measures of this construct, the Acceptance and Action Questionnaire–II (AAQ-II) and the Multidimensional Experiential Avoidance Questionnaire (MEAQ). In Amazon’s Mechanical Turk (N = 1,052) and college (N = 364) samples, we evaluated the construct validity of these measures. The AAQ-II demonstrated suboptimal patterns of convergent and discriminant validity with measures of neuroticism/negative affect (Big Five Inventory, Big Five Aspects Scale, Positive and Negative Affect Schedule), the MEAQ, and mindfulness (Five Factor Mindfulness Questionnaire). In contrast, the MEAQ demonstrated optimal convergent and discriminant validity. Factor analyses at the scale, subscale, and item levels demonstrated that the AAQ-II loads with indicators of neuroticism/negative affect and not with other constructs at the core of third-wave behavior therapies. In contrast, the MEAQ loads on factors with mindfulness or forms its own factors. These findings suggest the AAQ-II functions as a measure of neuroticism/negative affect, whereas the MEAQ functions as an indicator of experiential avoidance. These findings have substantial implications for research on experiential avoidance and third-wave behavior therapies. Therefore, in order to improve the theory, research, and practice of third-wave behavior therapies, we recommend using the MEAQ to assess experiential avoidance.     

A taxometric study of the Center for Epidemiological Studies Depression Scale

The authors assessed the latent structure of depressive symptoms as measured by the Center for Epidemiological Studies Depression Scale (CES-D; L. S. Radloff, 1977). By using taxometric procedures, the authors conducted analyses of CES-D data obtained from a large college student population. These procedures incorporated strategies for interpreting analyses of skewed indicators and small putative taxa. The authors hypothesized that CES-D total scores would be represented as a dimension, with a taxonic distribution of a factor incorporating somatic symptoms. Results indicated that all CES-D factors, including the factor composed of somatic complaints, were dimensional. Administration of the Diagnostic Interview Schedule-IV (L. N. Robins, L. Marcus, & W. Reich, 1996) to one quarter of the participants indicated that the CES-D was effective in identifying cases of current or recent clinical depression. Evidence of the dimensionality of CES-D indicators in a student population is consistent with a continuity view of depressive symptoms.     

Investing in Success: Key Strategies for Building Quality in After-School Programs

This paper examines the relation between the implementation quality of after-school literacy activities and student reading gains. The data are from an evaluation of a multi-site after-school program in California in which continuous program quality improvement strategies were implemented to improve the delivery of a new balanced literacy program. Strategies included: (1) targeted staff training throughout the year, (2) regular observations and coaching of staff, and (3) the use of data to measure progress. Programs struggled to successfully implement these strategies early in the initiative, but gradually improved the quality and consistency of their use. Program quality, as measured through observations, also increased. Results suggested that the size of student reading gains were positively correlated with the quality of literacy programming provided by each instructor.     

A Meta-Analysis of the Relationship Between Rater Liking and Performance Ratings

This meta-analysis reviewed the magnitude and moderators of the relationship between rater liking and performance ratings. The results revealed substantial overlap between rater liking and performance ratings (ρ = .77). Although this relationship is often interpreted as indicative of bias, we review studies that indicate that to some extent the relationship between liking and performance ratings potentially reflects “true” differences in ratee performance. Moderator analyses indicated that the relationship between liking and performance ratings was weaker for ratings of organizational citizenship behaviors, ratings made by peer raters, ratings in nonsales jobs, and ratings made for development; however, the relationship was strong across moderator levels, underscoring the robustness of this relationship. Implications for the interpretation of performance ratings are discussed.     

Longitudinal associations between people's cessation-related experiences and their satisfaction with cessation

We sought to determine whether different social, psychological, emotional, and physiological experiences associated with quitting smoking related to people's satisfaction with cessation systematically, and whether the strength of the relations changes at different points during the cessation process and for different people (e.g., optimists). Using data from smokers enrolled in a cessation program, we used mixed models to assess the average longitudinal relation between people's experiences and satisfaction measured at seven time points and whether the relations were moderated by key variables. Eight of nine experiences were related to people's satisfaction (ps < 0.05) and the models accounted for 39–44% of the within-person variance in satisfaction. Current smoking behavior was more strongly related to people's satisfaction during their early efforts to quit, whereas some experiences (e.g., feedback from others) had a stronger relation with satisfaction during people's later efforts to quit or maintain abstinence (ps < 0.05). Individual differences in optimism and prior cessation experience moderated some of the relations (ps < 0.05). The findings mark the first evidence of factors that might influence how people determine their satisfaction with smoking cessation. The implications for tailoring interventions and potentially increasing the likelihood that people maintain abstinence are discussed.