TY - JOUR
T1 - Current practices in the diagnosis and treatment of Rasmussen syndrome
T2 - Results of an international survey
AU - Stredny, Coral M.
AU - Steriade, Claude
AU - Papadopoulou, Maria T.
AU - Pujar, Suresh
AU - Kaliakatsos, Marios
AU - Tomko, Stuart
AU - Wickström, Ronny
AU - Cortina, Christopher
AU - Zhang, Bo
AU - Bien, Christian G.
N1 - Publisher Copyright:
© 2024
PY - 2024/11
Y1 - 2024/11
N2 - 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.
AB - 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.
KW - Hemispherectomy
KW - Immunotherapy
KW - Rasmussen encephalitis
KW - Rasmussen syndrome
KW - Refractory epilepsy
UR - http://www.scopus.com/inward/record.url?scp=85206551466&partnerID=8YFLogxK
U2 - 10.1016/j.seizure.2024.09.001
DO - 10.1016/j.seizure.2024.09.001
M3 - Article
C2 - 39426198
AN - SCOPUS:85206551466
SN - 1059-1311
VL - 122
SP - 153
EP - 164
JO - Seizure
JF - Seizure
ER -