OC09: Patient reported experience with multimodal peripheral electrophysiological studies in children and adults with Spinal Muscular Atrophy (SMA)

• Published in: Clinical neurophysiology Vol. 135; p. e17
• Main Authors: Ros, L.A.A., Sleutjes, B.T.H.M., Goedee, H.S., Asselman, F., Pol, L., Der, Van, Wadman, R.I.
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.03.2022
• ISSN: 1388-2457; 1872-8952
• DOI: 10.1016/j.clinph.2021.11.061

Purpose: Several electrophysiological tests have been proposed to aid in characterization of motor unit integrity and function in patients with Spinal Muscular Atrophy (SMA), but systematic studies on tolerability and test burden are lacking. Therefore, we systematically assessed patient reported experience with a standardized set of electrophysiological tests in a prospective SMA cohort. Methods: We recruited consecutive patients seen at the SMA Expertise Centre in Utrecht. SMA types 1c-4, age ≥12 years were eligible for inclusion. All patients underwent a standardized set of electrophysiological tests on the median nerve. We determined tolerability and test burden using visual analogue scale (VAS) scores (range 0 – 10), obtained at the end of each test-set. The protocol was defined as feasible when all examinations could be ended with satisfactory results for both patient and investigator. Results: We included 43 patients with SMA (21 males), mean age 39 years (range 13-67 years). 10/43 patients were ambulant at time of inclusion. 14/43 had (severe) contractures. Median VAS score was 2 with 70% (n=30) scoring ≤3 points. Only two participants (adults) scored 5 and 6. The full electrophysiological test-set was feasible in all SMA patients, who were also willing to undergo the same protocol at follow-up. Conclusion: Our study shows that combined electrophysiological studies on motor unit physiology are very well tolerated in children aged ≥12 years and adults with SMA, and even feasible with severe contractures.