Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management?

A goal of personalized medicine is to provide increasingly sophisticated, individualized approaches to management and therapy for disease. Genetics is the engine that drives personalized medicine, holding the promise of therapeutics directed toward the unique needs of each patient. The 3(rd) International Conference on Cardiomyopathy in Children provided a forum to discuss the current status of personalized approaches to diagnosis, management, and therapy in the pediatric cardiomyopathy population. This review will focus on the importance of genetic diagnosis in this population as a necessary first step toward understanding the best approach to management and influencing disease outcome. The genetic heterogeneity of cardiomyopathy in children, the implications of specific genotypes, the ability to risk stratify based on genotype, and the impact on cascade screening in family members will be discussed

Self-Regulation and School Success

Some children fare better academically than others, even when family background and school and teacher quality are controlled for (Rivkin, Hanushek, & Kain, 2005 ). Variance in performance that persists when situational variables are held constant suggests that individual differences play an important role in determining whether children thrive or fail in school. In this chapter, we review research on individual differences in self-regulation and their relation to school success

The genetics of colored sequence synesthesia: Evidence of linkage to chromosome 16q and genetic heterogeneity for the condition

Synesthesia is a perceptual condition in which normal sensory stimulation can trigger anomalous sensory experiences. For example, synesthetes may experience colors in response to sounds, tastes in response to words, or smells in response to touch. We here focus on colored sequence synesthesia, in which color experiences are triggered by learned ordinal sequences such as letters, numbers, weekdays and months. Although synesthesia has been noted in the scientific literature for over a century, it is understood only at the level of the phenomenology, and not at the molecular and neural levels. We have performed a linkage analysis to identify the first genetic loci responsible for the increased neural crosstalk underlying colored sequence synesthesia. Our analysis has identified a 23 MB region on chromosome 16 as a putative locus for the trait. Our data provide the first step in understanding neural crosstalk from its molecular basis to its behavioral consequences, opening a new inroad into the understanding of the multisensory brain

Creating a Task-Analysis for Teaching Emergent Literacy Skills to Students with Autism

This article provides six fundamental steps for using a task analysis to teach emergent literacy skills to young learners with autism spectrum disorder (ASD). Compared to general education peers, students with ASD score lower on reading measures and often have difficulty acquiring literacy skills via the instruction methods used in typical classrooms. An effective instructional technique for many students with ASD is systematic instruction via task analysis. Task analysis may be a useful tool for teachers of students with ASD to build literacy skills by aligning instruction in missing skills to the curriculum standards. The steps to consider when using a task analysis include what emergent literacy skills will be taught, defining expected steps and correct responses, the instructional method to be used, systematic prompting techniques, piloting and updating the task analysis, and teaching and collecting data. Considerations for implementation for practice are provided

Advance Care Planning in Patients Undergoing Hematopoietic Cell Transplantation

AbstractFew data are available on the prevalence of advance care planning (ACP) in patients undergoing hematopoietic cell transplantation (HCT). We surveyed adult patients pre-HCT to ascertain completion of various elements of ACP. We also reviewed medical records for documentation of discussions regarding ACP and for the presence of written advance directives. Evaluable surveys were returned by 155 of 335 patients (46%) who underwent HCT during the study period; we obtained permission for medical record review from 137 of these 155 survey respondents (88%). We found that 69% of the respondents reported having designated a health care proxy, 44% had completed a living will, 61% had prepared an estate will, and 63% had discussed their wishes regarding life support with family and friends. In contrast, only 16% had discussed their wishes regarding life support with their clinicians. Documentation of discussions between clinicians and patients regarding most elements of ACP was rare. Written advance directives were present in the charts of 54 patients (39%). ACP was more common in older, college-educated, and allogeneic transplant patients. Even though ACP was more prevalent among this sample than in the general population, its use still could be enhanced, given the high risks of decisional incapacity and death that HCT patients face

Functional MRI To Evaluate “Sense of Self” following Perforator Flap Breast Reconstruction

Background: Breast reconstruction is associated with high levels of patient satisfaction. Previous patient satisfaction studies have been subjective. This study utilizes functional magnetic resonance imaging (fMRI) to objectively evaluate “sense of self” following deep inferior epigastric perforator (DIEP) flap breast reconstruction in an attempt to better understand patient perception. Methods: Prospective fMRI analysis was performed on four patients before and after delayed unilateral DIEP flap breast reconstruction, and on four patients after immediate unilateral DIEP flap breast reconstruction. Patients were randomly cued to palpate their natural breast, mastectomy site or breast reconstruction, and external silicone models. Three regions of interest (ROIs) associated with self-recognition were examined using a general linear model, and compared using a fixed effects and random effects ANOVA, respectively. Results: In the delayed reconstruction group, activation of the ROIs was significantly lower at the mastectomy site compared to the natural breast (p<0.01). Ten months following reconstruction, activation of the ROIs in the reconstructed breast was not significantly different from that observed with natural breast palpation. In the immediate reconstruction group, palpation of the reconstructed breast was also similar to the natural breast. This activity was greater than that observed during palpation of external artificial models (p<0.01). Conclusions: Similar activation patterns were observed during palpation of the reconstructed and natural breasts as compared to the non-reconstructed mastectomy site and artificial models. The cognitive process represented by this pattern may be a mechanism by which breast reconstruction improves self-perception, and thus patient satisfaction following mastectomy

When is an Owl More Than an Owl? An Interaction Analysis of a Computer Science Co-design Conversation on Cultural Relevance

The learning sciences community is currently exploring new ways to enact productive and equitable co-design research-practice partnerships that are sensitive to all the concerns and needs of stakeholders. The paper contributes to that still-growing literature through an interaction analysis of a co-design discussion involving school district partners that unfolded about cultural relevance and sensitivity in relation to the use of a specific image in an elementary school coding lesson. The episode involved looking moment-by-moment at how district educators recognized and acknowledged that a specific design decision could be harmful for a minoritized population of students enrolled in the district. However, once a key change was made to be more culturally responsive and considerate, new and unexpected pedagogical challenges appeared. This case serves to illustrate some of the unexpected tensions that can appear in real-time when unanticipated questions about cultural relevance are foregrounded during lesson and materials co-design

A combined biomarker and clinical panel for chronic graft versus host disease diagnosis.

Whilst many chronic graft versus host disease (cGVHD) biomarkers have been previously reported, few have been verified in an independent cGVHD cohort. We aimed to verify the diagnostic accuracy of previously reported markers of cGVHD in a multi-centre Chronic GVHD Consortium. A total of 42 RNA and 18 protein candidate biomarkers were assessed amongst 59 cGVHD cases and 33 matched non-GVHD controls. Total RNA was isolated from PBMC, and RNA markers were quantified using PCR. Serum protein markers were quantified using ELISA. A combined 3 RNA biomarker (IRS2, PLEKHF1 and IL1R2) and 2 clinical variables (recipient CMV serostatus and conditioning regimen intensity) panel accurately (AUC 0.81) segregated cGVHD cases from controls. Other studied RNA and protein markers were not confirmed as accurate cGVHD diagnostic biomarkers. The studied markers failed to segregate higher risk cGVHD (per overall NIH 0-3 score, and overlap versus classic cGVHD status). These data support the need for multiple independent verification studies for the ultimate clinical application of cGVHD diagnostic biomarkers