Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

BACKGROUND AND OBJECTIVES: Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived importance of the dysmorphology physical examination. We studied the clinical effectiveness of telemedicine for patients with suspected or confirmed genetic conditions. METHODS: We conducted a retrospective cohort study of outpatient encounters before and after the widespread implementation of telemedicine (N = 5854). Visit types, diagnoses, patient demographic characteristics, and laboratory data were acquired from the electronic health record. Patient satisfaction was assessed through survey responses. New molecular diagnosis was the primary end point. RESULTS: Patients seen by telemedicine were more likely to report non-Hispanic White ancestry, prefer to speak English, live in zip codes with higher median incomes, and have commercial insurance (all P < .01). Genetic testing was recommended for more patients evaluated by telemedicine than in person (79.5% vs 70.9%; P < .001). Patients seen in person were more likely to have a sample collected, resulting in similar test completion rates (telemedicine, 51.2%; in person, 55.1%; P = .09). There was no significant difference in molecular diagnosis rate between visit modalities (telemedicine, 13.8%; in person, 12.4%; P = .40). CONCLUSIONS: Telemedicine and traditional in-person evaluation resulted in similar molecular diagnosis rates. However, improved methodologies for remote sample collection may be required. This study reveals the feasibility of telemedicine in a large academic medical genetics practice and is applicable to other pediatric specialties with perceived importance of physical examination.

Lt: A Resource to Future-Proof the Laboratory in Uncertain Times.

The COVID-19 pandemic abruptly challenged educators to transition previously in-person courses to an online environment. This has been especially difficult for laboratory courses where students must experience the process of science to develop lab skills and scientific competencies. Due to the uncertainty caused by the pandemic, it is essential that instructional resources are flexible and robust for use in various potential learning environments. The Lt software platform (ADInstruments) is a resource designed to support in-person, online, and hybrid learning environments. Lt supports the in-person lab experience by integrating with data collection hardware and facilitating collaboration through group-based activity. In addition, the platform also provides several avenues for teaching online labs using the same experiments that would be done on campus. At home, students can analyze Lt's built-in example data, or be supplied with low-cost hardware to complete labs remotely. In conjunction with other online tools, Lt can support online group work and student collaboration. Lt hosts a wide range of pre-built lab experiments and activities covering neuroscience, anatomy, physiology, clinical health science, biology, and chemistry. Although the material can be used "out-of-the-box", the content is completely editable and new labs can be created. Feedback from students suggests that Lt has proved valuable for supporting flexible instructional practices during the pandemic.

Muscle Spindles and Our Sense of Physical Self: Kinesthetic Illusions of Limb Position and Posture.

This article describes three simple activities we presented at the 2017 FUN Faculty Workshop at Dominican University that demonstrate how proprioceptive information contributes to our mental image of physical self, and how artificially altering this information creates kinesthetic illusions. We focus on the muscle spindle contribution to limb positional sense and standing postural maintenance. We use a percussion stimulator to vibrate muscle spindles in several muscle groups, causing an artificially incorrect message to the CNS that a muscle has lengthened. This creates an illusion of limb position or standing posture change. Although descriptive data can suffice to engage students in these activities, we suggest quantitative measurements to add further depth. These activities are open for continued student-designed exploration. They lead directly to discussions of sensory physiology, central pathways for integration of sensory information and spinal pathways to execute motor commands. A broader context for the activities could include postural adaptations at sea and upon return to land, postural illusions experienced by astronauts and the postural and locomotor problems they experience upon return to Earth, and the effects of aging and disease on the proprioceptive control of limb position and posture.