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.     

Number of Children Associated with Mothers’ Perceived Need for Behavior Support: Implications for Parenting Interventions

Researchers acknowledge mothers’ contributing role in influencing children’s behavioral displays of emotion, but there is a dearth in the literature on mothers’ emotion-related behaviors, beliefs, and needs. Urban, Head Start Mothers (n = 114) participated in a quantitative, exploratory investigation to examine child, maternal and community factors that may be associated with level of expressiveness, perceived role in emotional development, and receptivity to behavior support. Findings suggested that, compared to mothers raising two or more children, those raising only one child were significantly less positive in self-reported expressiveness, less supportive of the suggested role of mothers in the literature, and less receptive to parent-focused behavior support. Implications for acknowledging possibly distinct needs of Head Start mothers of singletons as well as seeking input from more experienced Head Start mothers in devising parenting interventions will be discussed.     

Integration of visuospatial information encoded from different viewpoints

Two experiments investigated whether separate sets of objects viewed in the same environment but from different views were encoded as a single integrated representation or maintained as distinct representations. Participants viewed two circular layouts of objects that were placed around them in a round (Experiment 1) or a square (Experiment 2) room and were later tested on perspective-taking trials requiring retrieval of either one layout (within-layout trials) or both layouts (between-layout trials). Results from Experiment 1 indicated that participants did not integrate the two layouts into a single representation. Imagined perspective taking was more efficient on within- than on between-layout trials. Furthermore, performance for within-layout trials was best from the perspective that each layout was studied. Results from Experiment 2 indicated that the stable environmental reference frame provided by the square room caused many, but not all, participants to integrate all locations within a common representation. Participants who integrated performed equally well for within-layout and between-layout judgments and also represented both layouts using a common reference frame. Overall, these findings highlight the flexibility of organizing information in spatial memory.     

The Role of Relational Contextual Cues versus Relational Coherence Indicators as Response Options on the Implicit Relational Assessment Procedure

The Psychological Record - Recent research has indicated that the results of the implicit relational assessment procedure (IRAP) may be affected by certain facets of the measure. The current...     

Prospective Associations Between Peer Victimization and Internalizing Symptoms in Adolescence: The Protective Role of Hope

Youth who experience aggression at the hands of peers are at an increased risk for a variety of adjustment difficulties, including depressive and anxiety symptoms and lower self-esteem. The links between peer victimization and internalizing problems are robust, but less work has been done to identify individual-level protective factors that might mitigate these outcomes. The current study investigated whether hope served as a moderator of the prospective links from peer victimization to depressive and anxiety symptoms and self-esteem during adolescence. Participants included 166 high school students (64% female; 88% Black/African American). Youth completed self-report measures at three different time points across the Spring semester of an academic year. As predicted, hope interacted with peer victimization to predict changes in depressive and anxiety symptoms over the course of the semester. That is, for youth with low levels of hope, peer victimization predicted more stable patterns of depressive and anxiety symptoms. For adolescents with average levels of hope, however, peer victimization did not influence anxiety and depressive symptoms over time. Finally, for adolescents with high levels of hope, peer victimization predicted greater decreases in anxiety symptoms over time. Hope did not interact with peer victimization to predict self-esteem. Rather, hope uniquely predicted higher levels of self-esteem, whereas peer victimization uniquely predicted lower levels of self-esteem. The current study provides initial support for the notion that hope can serve as a protective factor among youth who are victims of peer aggression.

     

Emotion Recognition and Traumatic Brain Injury: a Systematic Review and Meta-Analysis

Neuropsychology Review - Traumatic brain injury (TBI) can lead to impairments in emotion recognition that can present considerable challenges to social communication and the maintenance of...     

Collective Action on Behalf of Women: Testing the Conceptual Distinction Between Traditional Collective Action and Small Acts in College Women

Sex Roles - The current study examines the nature of actions that U.S. college women (N?=?267) engage in to promote, protect, or enhance the welfare of other women. The study had two...     

Spatial Skills and Self-Perceived Masculinity: Considering College Major STEM-ness,Directionality, and Gender

Sex Roles - The sex-role mediation hypothesis suggests that a masculine self-concept promotes male-typed cognition, including spatial skills. Support for the hypothesis is mixed, limited by small...     

Black Parenting Couples’ Ethnic-Racial Socialization Profiles: Associations with Sociodemographic and Race-Related Correlates

Journal of Child and Family Studies - In light of the continued racism and oppression experienced by Black Americans in the United States, ethnic-racial socialization—explicit and implicit...     

Social eye gaze modulates processing of speech and co-speech gesture

In human face-to-face communication, language comprehension is a multi-modal, situated activity. However, little is known about how we combine information from different modalities during comprehension, and how perceived communicative intentions, often signaled through visual signals, influence this process. We explored this question by simulating a multi-party communication context in which a speaker alternated her gaze between two recipients. Participants viewed speech-only or speech + gesture object-related messages when being addressed (direct gaze) or unaddressed (gaze averted to other participant). They were then asked to choose which of two object images matched the speaker’s preceding message. Unaddressed recipients responded significantly more slowly than addressees for speech-only utterances. However, perceiving the same speech accompanied by gestures sped unaddressed recipients up to a level identical to that of addressees. That is, when unaddressed recipients’ speech processing suffers, gestures can enhance the comprehension of a speaker’s message. We discuss our findings with respect to two hypotheses attempting to account for how social eye gaze may modulate multi-modal language comprehension.