The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services

There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic. The most expected and common indications for genetic counselor involvement were related to suspicion for primary heritable arrhythmia conditions, though patients seen in this clinic display a wide range of cardiac problems and many additional indications for genetic evaluation were identified. Roughly 75% (211/276) of encounters were for personal history of confirmed/suspected heritable disease, including cardiac channelopathies, cardiomyopathies, ventricular arrhythmias, and congenital heart defects, and 25% (65/276) were for family history of disease, including long QT syndrome and sudden unexplained death. Overall, this study shows that about 1 in 7 patients seen in a pediatric arrhythmia clinic have indications that likely benefit from genetic counselor involvement and care. Similar service delivery models embedding genetic counselors in pediatric arrhythmia clinics should be encouraged, and this model could be emulated to increase patient access to genetic counseling services.     

Determining a long term ambulatory load profile of the shoulder joint: neural networks predicting input for a musculoskeletal model

To gain more insight in the development of joint damage, a long term load profile of the shoulder joint under daily living conditions is desirable. Standard musculoskeletal models estimate joint load using kinematics and exerted force. However, the latter cannot be measured continuously in ambulatory settings, hampering the use of these models. This paper describes a method for obtaining such a load profile, by training a Neural Network (NN), using kinematics and EMG. A small data set of specified movements with known exerted forces is used in two ways. First, the model calculates several variables of joint load, and a set of Generalized Forces and Net Moments (GFNM) around the model's degrees of freedom. Second, using kinematics and EMG, an NN is trained to predict these GFNM, which can concurrently be used as input for the model, resulting in full model output independent of exerted force. The method is validated with an independent trial. The NN could predict GFNM within 10% relative RMS, compared to output of the model. The NN-model combination estimated joint reaction forces with relative RMS values of 7 to 17%, enabling the estimation of a detailed load profile of the shoulder under daily conditions.     

Assessing cross-partner associations in physiological responses via coupled oscillator models

A host of theoretical frameworks suggest associations of physiological signals between two individuals within a romantic relationship. However, few studies have provided empirical evidence of such associations using physiological reactivity from both partners in the dyad. In this study we use measures of respiration and heart rate from romantic partners recorded across three laboratory tasks. We examine the interrelations of each measure between both dyad members using coupled linear oscillators (Boker & Nesselroade, 2002). These models were used to capture oscillations in respiration and heart rate, and to examine interdependence in the physiological signals between both partners. Results show that associations were detectable within all three tasks, with different patterns of coupling within each task. Discussion centers on ways to investigate the synchrony of physiological responses across within relationships, including the promises of and obstacles for doing so.     

Simplicity versus likelihood in visual perception: from surprisals to precisals

The likelihood principle states that the visual system prefers the most likely interpretation of a stimulus, whereas the simplicity principle states that it prefers the most simple interpretation. This study investigates how close these seemingly very different principles are by combining findings from classical, algorithmic, and structural information theory. It is argued that, in visual perception, the two principles are perhaps very different with respect to the viewpoint-independent aspects of perception but probably very close with respect to the viewpoint-dependent aspects which, moreover, seem decisive in everyday perception. This implies that either principle may have guided the evolution of visual systems and that the simplicity paradigm may provide perception models with the necessary quantitative specifications of the often plausible but also intuitive ideas provided by the likelihood paradigm.     

Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling

Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV. This review describes current knowledge of BAV and associated aortopathy and provides guidance to genetic counselors involved in the care of patients and families with these malformations. The heritability of BAV and recommendations for screening are highlighted. While this review focuses specifically on BAV, the principles are applicable to counseling needs for other LVOTO defects.