Not so Shocking: Electromyography in Pediatrics Remains Feasible and Diagnostically Useful.

BACKGROUND: Electrodiagnostic testing, including nerve conduction studies (NCS) and electromyography (EMG), assists with localizing lesions within the peripheral nervous system. NCS/EMG in children can be technically challenging and its relevance has been questioned in the era of affordable genetic testing. NCS/EMG provides information that may not be available in the examination of a young or developmentally delayed child. Our goal was to review the volume and referral sources of NCS/EMG studies and evaluate its feasibility and diagnostic yield at a pediatric tertiary care hospital. METHODS: Retrospective chart review of NCS/EMG studies done in pediatric patients at one center from 2014 to 2019. RESULTS: A total of 725 studies were performed, with a median age of 13.2 years (range 0-18 years). The annual number of studies remained constant throughout the study period. Neurologists and surgeons were the most common referral sources, but an increased number of referrals from geneticists was observed. Most (94.5%) NCS/EMG were done on awake patients, with only 5.5% of studies being terminated early due to tolerability of the patient. Of all studies, 326/725 (44%) demonstrated a neuromuscular abnormality, of which 63.5% (207/326) were acquired conditions. Mononeuropathies and polyneuropathies were the most common electrophysiologic diagnoses. DISCUSSION: Our study indicates that NCS/EMG remains a useful diagnostic tool, both for the diagnosis of acquired neuromuscular conditions but also as an adjunct for interpreting genetic results, as indicated by the recent increase in referrals from geneticists. Overall NCS/EMG is well tolerated and able to be performed without sedation in children of all ages.

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene. It has only been recognized since 2002 and the full spectrum of the disorder is still being delineated. Here, we review a case report of a severely affected girl with a thorough neuropathological evaluation demonstrating novel clinical and pathological findings. Clinically, our patient demonstrated visual dysfunction and hypodontia in addition to the typical phenotype. Morphologically, more severe and widespread changes in the white matter were observed, including to the optic tracts; in gray structures such as the caudate nucleus, thalamus, globus pallidus, and substantia nigra; as well as an area of focal cortical dysplasia. Overall this case offers further insight into the broad range of clinical and neuropathological findings that may be associated with H-ABC and related TUBB4A gene mutations.

Interprofessional education using simulation of an overnight inpatient ward shift.

In healthcare it is rare for professionals to practice together before they practice together. Nightmare Night Care is an annual interprofessional voluntary event for health sciences students in nursing, medicine and pharmacy to come together for a simulated hospital overnight ward shift. The purpose of this study was to investigate the interprofessional knowledge, skills and attitudes the students learn from this experience. Students responded to surveys before (n = 45) and after the event (n = 11) regarding their understanding of the goals of interprofessional education (IPE), roles and responsibilities of other professions, and what they learned from this event. Responses demonstrated that students are eager to learn in interprofessional settings and that IPE events may aid in building understanding and communication between professions. IPE events are an opportunity to allow students to learn about each other; however, they must occur frequently, and must include an orientation on role clarification if they are to have an effect on changing preconceived stereotypes of the other professions.