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301.
Mallory R. Sdano Rena J. Vanzo Megan M. Martin Erin E. Baldwin Sarah T. South Alan F. Rope William P. Allen Hutton Kearney 《Journal of genetic counseling》2014,23(6):922-927
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. 相似文献
302.
Cynthia Suveg Marni L. Jacob Monica Whitehead Anna Jones Julie Newman Kingery 《Anxiety, stress, and coping》2014,27(5):494-508
Social difficulties are commonly associated with anxiety disorders in youth, yet are not well specified in the literature. The aim of this study was to identify patterns of social experiences in clinically anxious children and examine the associations with indices of emotional functioning. A model-based cluster analysis was conducted on parent-, teacher-, and child-reports of social experiences with 64 children, ages 7–12 years (M = 8.86 years, SD = 1.59 years; 60.3% boys; 85.7% Caucasian) with a primary diagnosis of separation anxiety disorder, social phobia, and/or generalized anxiety disorder. Follow-up analyses examined cluster differences on indices of emotional functioning. Findings yielded three clusters of social experiences that were unrelated to diagnosis: (1) Unaware Children (elevated scores on parent- and teacher-reports of social difficulties but relatively low scores on child-reports, n = 12), (2) Average Functioning (relatively average scores across all informants, n = 44), and (3) Victimized and Lonely (elevated child-reports of overt and relational victimization and loneliness and relatively low scores on parent- and teacher-reports of social difficulties, n = 8). Youth in the Unaware Children cluster were rated as more emotionally dysregulated by teachers and had a greater number of diagnoses than youth in the Average Functioning group. In contrast, the Victimized and Lonely group self-reported greater frequency of negative affect and reluctance to share emotional experiences than the Average Functioning cluster. Overall, this study demonstrates that social maladjustment in clinically anxious children can manifest in a variety of ways and assessment should include multiple informants and methods. 相似文献
303.
To alert professionals and consumers about safety risks associated with approved drugs, the U.S. Food and Drug Administration (FDA) periodically issues Drug Safety Communications, or DSCs (previously known as advisories, warnings, and health care professional letters). This review consolidates balanced information from 22 DSCs issued over the last 15 years by the FDA for drugs with pediatric indications (for any disorder) that are used to treat pediatric emotional and behavioral disorders (ADHD drugs, antipsychotics, antidepressants, and antiepileptics/anticonvulsants). A single-source document of pediatric DSCs for these drugs was needed because none existed previously; finding DSC information on the FDA website can be challenging; and other information sources (e.g., manufacturer or advocacy websites, blogs, other media reports) may lack the objectivity or accuracy that the FDA is charged to maintain. This consolidation is intended to enable better informed risk-benefit analysis around treatment selection and drug safety monitoring. For the 22 DSCs, we summarize the safety concerns, the populations affected, and when available from the FDA, the incidence of the adverse events, precursors, and factors that may increase or mitigate the risk of these very serious (e.g., sudden death, life-threatening rash, liver failure), but typically low incidence (<1 %) adverse events (cardiometabolic complications with atypical antipsychotics and suicidality with antidepressants are more common). This review does not address the far more common, but usually less serious, side effects that also accompany these drugs. Implications of this review for research and practice are discussed. 相似文献
304.
Sarah?P.?BellefontaineEmail author Catherine?M.?Lee 《Journal of child and family studies》2014,23(8):1378-1388
The inclusion of grey literature in meta-analyses and reviews is controversial. We examine both the advantages and challenges of including grey literature in meta-analyses. An exemplar meta-analysis of behavioral parenting interventions on parent behavior, child behavior, and parent adjustment outcomes is used to demonstrate these issues. It also explores the influence of the inclusion of grey literature on outcomes, including whether effect sizes are affected by the inclusion of grey literature and describes the challenges of searching for grey literature using traditional search engines such as Google and Yahoo. Homogeneity and publication bias are also examined. Based on these results, recommendations are presented for meta-analysts and researchers. 相似文献
305.
Sarah H. Creem-Regehr Brandon S. Payne Kristina M. Rand Grace Hansen 《Psychonomic bulletin & review》2014,21(2):398-405
How do body representations influence decisions about action? We developed a novel paradigm using the mirror illusion (Holmes, Crozier, & Spence, in Cognitive, Affective, & Behavioral Neuroscience, 4, 193–200, 2004) to examine two ways of evoking body plasticity—extension of body capabilities and visual capture—and its influence on perceived affordances. In two experiments, we manipulated the action capabilities of a seen left hand by lengthening the arm with a rod (Exp. 1) or enlarging the hand with a glove (Exp. 2). The right hand was unaltered physically and was occluded by placement in a mirror box. We induced visual capture through synchronous finger movements of both hands. Right-hand estimates of reaching and of fitting through apertures increased relative to actual capabilities during visual capture, supporting the claim that visual capture can induce the incorporation of an apparent body extension into action decisions. The results suggest that both perceptual and cognitive influences on bodily awareness underlie perceived affordances. 相似文献
306.
Sarah Weigelt Kami Koldewyn Daniel D. Dilks Benjamin Balas Elinor McKone Nancy Kanwisher 《Developmental science》2014,17(1):47-58
How does the remarkable human ability for face recognition arise over development? Competing theories have proposed either late maturity (beyond 10 years) or early maturity (before 5 years), but have not distinguished between perceptual and memory aspects of face recognition. Here, we demonstrate a perception–memory dissociation. We compare rate of development for (adult, human) faces versus other social stimuli (bodies), other discrete objects (cars), and other categories processed in discrete brain regions (scenes, bodies), from 5 years to adulthood. For perceptual discrimination, performance improved with age at the same rate for faces and all other categories, indicating no domain‐specific development. In contrast, face memory increased more strongly than non‐face memory, indicating domain‐specific development. The results imply that each theory is partly true: the late maturity theory holds for face memory, and the early maturity theory for face perception. 相似文献
307.
308.
Lydia M. Hopper Susan P. Lambeth Steven J. Schapiro Sarah F. Brosnan 《Animal cognition》2014,17(6):1303-1311
Why do chimpanzees react when their partner gets a better deal than them? Do they note the inequity or do their responses reflect frustration in response to unattainable rewards? To tease apart inequity and contrast, we tested chimpanzees in a series of conditions that created loss through individual contrast, through inequity, or by both. Chimpanzees were tested in four social and two individual conditions in which they received food rewards in return for exchanging tokens with an experimenter. In conditions designed to create individual contrast, after completing an exchange, the chimpanzees were given a relatively less-preferred reward than the one they were previously shown. The chimpanzees’ willingness to accept the less-preferred rewards was independent of previously offered foods in both the social and individual conditions. In conditions that created frustration through inequity, subjects were given a less-preferred reward than the one received by their partner, but not in relation to the reward they were previously offered. In a social context, females were more likely to refuse to participate when they received a less-preferred reward than their partner (disadvantageous inequity), than when they received a more-preferred reward (advantageous inequity). Specifically, the females’ refusals were typified by refusals to exchange tokens rather than refusals to accept food rewards. Males showed no difference in their responses to inequity or individual contrast. These results support previous evidence that some chimpanzees’ responses to inequity are mediated more strongly by what others receive than by frustration effects. 相似文献
309.
Phil Jones 《Counselling and Psychotherapy Research》2014,14(3):227-234
Aims: This article reviews a research methodology that uses an Internet mediated qualitative, narrative approach to provide in‐depth analysis of vignettes. The research sought to investigate the ways in which dramatherapists, based in different countries, understood the nature of therapeutic change in their work with children. Method: The article describes a qualitative approach to the generation of data by a combination of therapist‐authored vignettes, live, synchronous Internet mediated communication (aMSN Messenger) and email. Participants kept a diary of their response to the research and the article draws on this data within its analysis of the methodology. Findings: Samples of the data are used to analyse how such innovative, online methodology can develop effective access and relationships with geographically dispersed participants and as an effective way of investigating therapist practitioners' understanding of their practice. 相似文献
310.
Catherine Dauvergne Sarah Marsden 《Journal of International Migration and Integration》2014,15(3):525-545
This paper seeks to move beyond what Martin and Ruhs described as the numbers versus rights equation in temporary labour migration programs. We do this by examining the ideology of temporary labour migration. This ideology has three key elements: temporariness, labour markets and rights. The paper describes how these concepts obscure key features of temporary labour migration programs. The argument is developed by examining points of contrast between current programs in place in the USA, Canada, Australia and the UK. The paper concludes by demonstrating how unmasking the power imbalances of this ideology will lead to new policy directions. 相似文献