Current practices in the diagnosis and treatment of Rasmussen syndrome: Results of an international survey.

Purpose: Rasmussen syndrome (RS) is marked by progressive unihemispheric atrophy, resulting in hemiparesis, refractory epilepsy, and cognitive/language decline. Detailed diagnostic and treatment algorithms are currently lacking. We aimed to survey medical providers on their current practices in the diagnosis and treatment of RS.
Methods: A steering committee was formed to create the survey, which was disseminated to the international medical community. One hundred twelve surveys were completed. Descriptive statistics, as well as comparisons by level of experience, patient age group cared for, and geographic region using Fisher's exact test, were conducted.
Results: Analysis of cerebrospinal fluid (82 %) and serum (78 %) for autoimmune encephalitis (AE) are completed by most, while approximately one-third obtain genetic and metabolic studies in all patients (36 % and 38 %, respectively). Providers in US and Europe more readily pursue serum AE antibody panels (85 % and 85 %, respectively, versus 67 %, p = 0.019) and genetic testing (56 % and 47 %, respectively, versus 14 %, p < 0.001) than the rest of the world. Thirty-six percent proceed to biopsy in patients otherwise meeting diagnostic criteria, and US providers are more likely to suggest this than others (73 % versus 14-41 %, p < 0.001). Opinions differed on the prioritization of hemispherectomy/hemispherotomy versus immunotherapy in 14 clinical scenarios with various neurologic deficit severity provided. Preferred immunotherapy regimens also varied, with US providers more often choosing IVIG as first-line (67 %) compared to others (28 %-32 %, p = 0.030). Surgical standard of care was identified as functional hemispherectomy or hemispherotomy by 90 %.
Conclusion: The survey highlights trends but also significant variations in clinical practice that can serve as targets for future research and expert consensus guidelines.
Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Suresh Pujar has received honoraria for serving on advisory board for UCB, and speaker's fees from UCB and Danone. Coral M. Stredny receives grant support from the Pediatric Epilepsy Research Foundation. She is an unpaid member of the medical and scientific advisory boards of the Autoimmune Encephalitis Alliance and NORSE Institute. Claude Steriade receives institutional salary support from The Epilepsy Study Consortium, on behalf of Alterity, Cerebral, Cerevel, Eliem, Equilibre, Janssen, Longboard, Marinus, Neurocrine, Neuroelectrics, Receptor, SK Life Sciences, Supernus, UCB, and Xenon, serves as an Editor for Dynamed, receives grants from NINDS, Parekh Institute for Interdisciplinary Neurology, NORD, and UCB, has served as an Expert Witness for the DOJ, has received compensation for speakers bureau for SK Life Sciences and consulted for Epitel Inc. and Jazz Pharmaceuticals. Ronny Wickström has received honoraria for serving on advisory boards for Jazz Pharmaceuticals, GW Pharma and Octapharma and speaker's fees from EISAI, UCB, Sobi, Jazz Pharmaceuticals and Sanofi-Genzyme. Medical treatments discussed represent off-label uses.
(Copyright © 2024. Published by Elsevier Ltd.)