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.     

Mindful and Mutual Care for Individuals with Developmental Disabilities: A Systematic Literature Review

Parental and professional caregivers of individuals with developmental disabilities (DD) often experience stress and hardship associated with their role, placing them in real danger of burnout and affecting their quality of care. Mindfulness practice is currently being applied to address these issues. We conducted a systematic literature review to explore the effects of mindfulness practice and analyse the intervention and methodological features used for eliciting these effects. An initial search produced 386 publications. Of these, seven met the selection criteria of intervention studies that applied mindfulness to parental and professional caregivers of individuals with DD. We found, from analysis of seven studies, direct effects of mindfulness practice for practitioners (i.e., parental and professional caregivers) and crossover effects for individuals with whom these practitioners interacted (i.e., their children and care recipients). The studies under review collectively suggest that the practice of mindfulness in everyday life over significant periods of time can both improve the experience of care providers and support them in providing a better standard of care for care recipients. Limitations of current mindfulness intervention studies and some implications for future studies are discussed to strengthen the application of mindfulness for individuals influenced by DD.     

The impact of pressured information management on boys' and girls' psychological functioning

This study involving 463 adolescents examined the impact of pressured information management with mothers on boys' and girls' subsequent psychological functioning. This novel concept of pressured information management involved both pressured secrecy and disclosure and was defined as the degree to which adolescents feel they have no choice but to engage in these strategies. While pressured secrecy was especially aversive for girls, yielding associations with both depression and anxiety, it was related to stress only in boys. Pressured disclosure was less detrimental, and in fact, had a positive influence on girls' anxiety over time. Alternate models for these effects were considered but not supported by the data. Together, these findings highlight the importance of considering teens' reasons for engaging in different information management strategies and suggest adolescents who feel they have no choice but to keep secrets or disclose information to mothers may experience psychological consequences that are gender-specific.     

Oculomotor atypicalities in Developmental Coordination Disorder

Children with Developmental Coordination Disorder (DCD) fail to acquire adequate motor skill, yet surprisingly little is known about the oculomotor system in DCD. Successful completion of motor tasks is supported by accurate visual feedback. The purpose of this study was to determine whether any oculomotor differences can distinguish between children with and without a motor impairment. Using eye tracking technology, visual fixation, smooth pursuit, and pro‐ and anti‐saccade performance were assessed in 77 children that formed three groups: children with DCD (aged 7–10), chronologically age (CA) matched peers, and a motor‐match (MM) group (aged 4–7). Pursuit gain and response preparation in the pro‐ and anti‐saccade tasks were comparable across groups. Compared to age controls, children with DCD had deficits in maintaining engagement in the fixation and pursuit tasks, and made more anti‐saccade errors. The two typically developing groups performed similarly, except on the fast speed smooth pursuit and antisaccade tasks, where the CA group outperformed the younger MM group. The findings suggest that children with DCD have problems with saccadic inhibition and maintaining attention on a visual target. Developmental patterns were evident in the typically developing groups, suggesting that the pursuit system and cognitive control develop with age. This study adds to the literature by being the first to systematically identify specific oculomotor differences between children with and without a motor impairment. Further examination of oculomotor control may help to identify underlying processes contributing to DCD. A video abstract of this article can be viewed at: https://youtu.be/NinXa2KlB4M . [Correction added on 27 January 2017, after first online publication: The video abstract link was added.]     

Short-term memory and working memory as indices of children's cognitive skills

In the current literature, empirical and conceptual distinctions have been drawn between a more or less passive short-term memory (STM) system and a more dynamic working memory (WM) system. Distinct tasks have been developed to measure their capacity and research has generally shown that, for adults, WM, and not STM, is a reliable predictor of general cognitive ability. However, the locus of the differences between the tasks has received little attention. We present data from children concerning measures of matrices reasoning ability, reading, and numerical skill along with forward and backward order serial recall of WM, STM, and STM with articulatory suppression tasks. As indices of children's cognitive skills, STM and WM are shown to be rather similar in terms of memory per se. Neither the opportunity for rehearsal nor task complexity provides satisfactory explanations for differences between memory tests.     

Reduced willingness to approach genuine smilers in social anxiety explained by potential for social evaluation,not misperception of smile authenticity

ABSTRACT

We investigate perception of, and responses to, facial expression authenticity for the first time in social anxiety, testing genuine and polite smiles. Experiment 1 (N?=?141) found perception of smile authenticity was unaffected, but that approach ratings, which are known to be reduced in social anxiety for happy faces, are more strongly reduced for genuine than polite smiles. Moreover, we found an independent contribution of social anxiety to approach ratings, over and above general negative affect (state/trait anxiety, depression), only for genuine smiles, and not for polite ones. We argue this pattern of results can be explained by genuine smilers signalling greater potential for interaction – and thus greater potential for the scrutiny that is feared in social anxiety – than polite smiles. Experiment 2 established that, relative to polite smilers, genuine smilers are indeed perceived as friendlier and likely to want to talk for longer if approached. Critically, the degree to which individual face items were perceived as wanting to interact correlated strongly with the amount that social anxiety reduced willingness to approach in Experiment 1. We conclude it is the potential for social evaluation and scrutiny signalled by happy expressions, rather than their positive valence, that is important in social anxiety.     

Manipulating perception versus action in recalibration tasks

We conducted six experiments to examine how manipulating perception versus action affects perception–action recalibration in real and imagined blindfolded walking tasks. Participants first performed a distance estimation task (pretest) and then walked through an immersive virtual environment on a treadmill for 10 min. Participants then repeated the distance estimation task (posttest), the results of which were compared with their pretest performance. In Experiments 1a, 2a, and 3a, participants walked at a normal speed during recalibration, but the rate of visual motion was either twice as fast or half as fast as the participants' walking speed. In Experiments 1b, 2b, and 3b, the rate of visual motion was kept constant, but participants walked at either a faster or a slower speed. During pre- and posttest, we used either a blindfolded walking distance estimation task or an imagined walking distance estimation task. Additionally, participants performed the pretest and posttest distance estimation tasks in either the real environment or the virtual environment. With blindfolded walking as the distance estimation task for pre- and posttest, we found a recalibration effect when either the rate of visual motion or the walking speed was manipulated during the recalibration phase. With imagined walking as the distance estimation task, we found a recalibration effect when the rate of visual motion was manipulated, but not when the walking speed was manipulated in both the real environment and the virtual environment. Discussion focuses on how spatial-updating processes operate on perception and action and on representation and action.     

Modifying driver behaviour with passenger feedback

A feedback programme was employed to help drivers improve their safety behaviour based on the idea that particular types of driver error result from contingency traps as defined by Fuller [Journal of Applied Behaviour Analysis, 24 (1991) 73]. Two drivers and their single respective passengers participated. For each driver, repeated in-car observations were made of four unsafe driving behaviours. Two of these were sequentially targeted in the behavioural intervention that involved the passengers providing informational feedback to their driver. Both drivers showed a marked improvement across the targeted behaviours. The study demonstrated the applicability of behaviour analysis to the traffic domain and the efficacy of individual feedback as a behavioural tool for positive behaviour modification.