The utilization of genetic counselors within a newborn screening program

Genetic counselors have participated in the Michigan Newborn Screening Program on a contractual basis since 1988. Their role includes newborn screening education and training, newborn nursery site visits, and monitoring newborn screening in hospitals. Their impact has been to improve the quality of newborn screening services by reducing errors and increasing completion of data fields on newborn screening cards, improving hospital nursery cooperation and problem solving, and enhancing health department response to specific problems.     

Bilateral Transcranial Direct Stimulation Over the Primary Motor Cortex Alters Motor Modularity of Multiple Muscles

Abstract

Transcranial direct current stimulation (tDCS) over the primary motor cortex (M1) has been demonstrated to modulate the motor performance of both healthy individuals and patients with neuromuscular disorders. However, the effect of tDCS on motor control of multiple muscles, which is a prerequisite to change in motor performance, is currently unknown. Using dimensionality reduction analysis, we investigated whether bilateral tDCS over M1 modulates the coordinated activity of 12 muscles. Fifteen healthy men participated in this randomized, double-blind crossover study. Each participant received a 20-min sham and 2-mA stimulation bilaterally over M1 (anode on the right M1 and cathode on the left M1), with a minimum washout period of 4?days. Muscle activation and end-point kinematics were evaluated during a task where participants reached out to a marked target with non-dominant hand as fast as possible, before and immediately after tDCS application. We found decreased similarity in motor modularity and significant changes in muscle activation in a specific motor module, particularly when reaching out to a target placed within arm’s length and improved smoothness index of movement only following 2-mA stimulation. These findings indicate that clinicians and researchers need to consider the simultaneous effect of bilateral tDCS over M1 on multiple muscles when they establish tDCS protocol to change in motor performance of patients with neuromuscular deficits.     

A simulation study of the degrees of freedom of movement in reaching and grasping

The question of independently controlled components in the act of reaching and grasping has attracted interest experimentally and theoretically. Data from 35 studies were recently found consistent with simulated kinematic finger and thumb trajectories optimised for minimum jerk. The present study closely reproduces those trajectories using a discrete-time model based on minimum acceleration. That model was further used to generate two-dimensional trajectories for finger and thumb to reach and grasp an elliptical object with varying position and/or orientation. Orthogonalisation of these four trajectories revealed one degree of freedom when direction of reach was constant and two degrees of freedom when direction of reach varied, irrespective of object distance and orientation. These simulations indicate that reach and grasp movements contain redundancy that is removable by formation of task-dependent synergies. As skilled movement can be planned and executed in a low dimension workspace, control of these independent components lessens central workload.     

Client Advocacy and Collaboration with Insurance and Laboratory Testing Agencies: A Case Study Illustrating Genetic Counselor Roles

Genetic counseling and the many roles a genetic counselor must assume to provide quality genetic health care are becoming increasingly complex, especially when the genetic condition is rare, and DNA testing is costly and not yet routinely used. A case study of a couple with a family history of retinoblastoma and their pursuit of DNA testing for prenatal diagnosis is presented. The case study illustrates the instrumental role of the genetic counselor in advocating for clients for genetic services such as DNA testing and in educating insurance companies in the nature and importance of such services to achieve improved client health care outcomes.     

Qualitative analyses of critical aspects of adaptation to the visually left-right reversed world

In this article, mechanisms of perceptual adaptation to the transposed world are analyzed based on introspective and behavioral performance data gathered during an extended period of wearing left-right reversing goggles. Three aspects central to this study were the mental map of the living space surrounding the subject, body image (both seen and felt), and the sensorimotor coordination system, which reflects the relationship between the subject and surroundings. These were investigated through map-drawing tests, self-representation tests when postures other than face forward were adopted, and after effects observed immediately after removal of the reversing goggles. It was concluded that the main course of the perceptual adaptation to the visually left-right reversed world consists of double reversals of the mental map and body image as well as the establishment of a new sensorimotor coordination system. In sharp contrast to the proprioceptive-change hypothesis, the importance of the visual nature of the body image was emphasized.