Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome
Abstract Background Ninety percent of infants with Sturge–Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; early‐onset seizures are associated with worse neurological outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, a...
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Wiley
2024-03-01
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| Series: | Annals of the Child Neurology Society |
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| Online Access: | https://doi.org/10.1002/cns3.20058 |
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| author | Chelsea B. Valery Isabelle Iannotti Eric H. Kossoff Andrew Zabel Bernard Cohen Yangming Ou Anna Pinto Anne M. Comi |
| author_facet | Chelsea B. Valery Isabelle Iannotti Eric H. Kossoff Andrew Zabel Bernard Cohen Yangming Ou Anna Pinto Anne M. Comi |
| author_sort | Chelsea B. Valery |
| collection | DOAJ |
| description | Abstract Background Ninety percent of infants with Sturge–Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; early‐onset seizures are associated with worse neurological outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high risk of developing epilepsy, such as tuberous sclerosis complex. The electroencephalogram (EEG) may be a biomarker to predict seizure onset. This retrospective clinical data analysis aims to assess the impact of presymptomatic treatment in SWS. Methods This two‐center, Institutional Review Board–approved, retrospective study analyzed records from patients with SWS brain involvement. Clinical data recorded included demographics, age of seizure onset (if present), brain involvement extent (unilateral versus bilateral), port‐wine birthmark (PWB) extent, family history of seizures, presymptomatic treatment if received, Neuroscore, and antiseizure medications. EEG reports prior to seizure onset were analyzed. Results Ninety‐two patients were included (48 females), and 32 received presymptomatic treatment outside of a formal protocol (five aspirin, 16 aspirin and levetiracetam; nine aspirin and oxcarbazepine, two valproic acid). Presymptomatically treated patients were more likely to be seizure‐free at 2 years (15 of 32, 47% versus 7 of 60, 12%; p < 0.001). A greater percentage of presymptomatically treated patients had bilateral brain involvement (38% treated versus 17% untreated; p = 0.026). Median hemiparesis Neuroscore at 2 years was better in presymptomatically treated patients. In EEG reports prior to seizure onset, the presence of slowing, epileptiform discharges, or EEG‐identified seizures was associated with seizure onset by 2 years (p = 0.001). Conclusion Presymptomatic treatment is a promising approach to children diagnosed with SWS prior to seizure onset. Further study is needed, including prospective drug trials, long‐term neuropsychological outcome, and prospective EEG analysis, to assess this approach and determine biomarkers for presymptomatic treatment. |
| format | Article |
| id | doaj-art-e29241007ae34cb398fbead4c5ec2335 |
| institution | OA Journals |
| issn | 2831-3267 |
| language | English |
| publishDate | 2024-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of the Child Neurology Society |
| spelling | doaj-art-e29241007ae34cb398fbead4c5ec23352025-08-20T02:16:56ZengWileyAnnals of the Child Neurology Society2831-32672024-03-0121607210.1002/cns3.20058Retrospective analysis of presymptomatic treatment in Sturge–Weber syndromeChelsea B. Valery0Isabelle Iannotti1Eric H. Kossoff2Andrew Zabel3Bernard Cohen4Yangming Ou5Anna Pinto6Anne M. Comi7Department of Neurology Kennedy Krieger Institute Baltimore Maryland USADepartment of Neurology Boston Children's Hospital Boston Massachusetts USADepartments of Neurology and Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USADepartment of Neuropsychology Kennedy Krieger Institute Baltimore Maryland USADepartment of Dermatology and Pediatrics Johns Hopkins School of Medicine Baltimore Maryland USADepartment of Radiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADepartment of Neurology Boston Children's Hospital Boston Massachusetts USADepartment of Neurology Kennedy Krieger Institute Baltimore Maryland USAAbstract Background Ninety percent of infants with Sturge–Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; early‐onset seizures are associated with worse neurological outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high risk of developing epilepsy, such as tuberous sclerosis complex. The electroencephalogram (EEG) may be a biomarker to predict seizure onset. This retrospective clinical data analysis aims to assess the impact of presymptomatic treatment in SWS. Methods This two‐center, Institutional Review Board–approved, retrospective study analyzed records from patients with SWS brain involvement. Clinical data recorded included demographics, age of seizure onset (if present), brain involvement extent (unilateral versus bilateral), port‐wine birthmark (PWB) extent, family history of seizures, presymptomatic treatment if received, Neuroscore, and antiseizure medications. EEG reports prior to seizure onset were analyzed. Results Ninety‐two patients were included (48 females), and 32 received presymptomatic treatment outside of a formal protocol (five aspirin, 16 aspirin and levetiracetam; nine aspirin and oxcarbazepine, two valproic acid). Presymptomatically treated patients were more likely to be seizure‐free at 2 years (15 of 32, 47% versus 7 of 60, 12%; p < 0.001). A greater percentage of presymptomatically treated patients had bilateral brain involvement (38% treated versus 17% untreated; p = 0.026). Median hemiparesis Neuroscore at 2 years was better in presymptomatically treated patients. In EEG reports prior to seizure onset, the presence of slowing, epileptiform discharges, or EEG‐identified seizures was associated with seizure onset by 2 years (p = 0.001). Conclusion Presymptomatic treatment is a promising approach to children diagnosed with SWS prior to seizure onset. Further study is needed, including prospective drug trials, long‐term neuropsychological outcome, and prospective EEG analysis, to assess this approach and determine biomarkers for presymptomatic treatment.https://doi.org/10.1002/cns3.20058epilepsypresymptomatic treatmentSturge–Weber syndromevascular malformation |
| spellingShingle | Chelsea B. Valery Isabelle Iannotti Eric H. Kossoff Andrew Zabel Bernard Cohen Yangming Ou Anna Pinto Anne M. Comi Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome Annals of the Child Neurology Society epilepsy presymptomatic treatment Sturge–Weber syndrome vascular malformation |
| title | Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome |
| title_full | Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome |
| title_fullStr | Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome |
| title_full_unstemmed | Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome |
| title_short | Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome |
| title_sort | retrospective analysis of presymptomatic treatment in sturge weber syndrome |
| topic | epilepsy presymptomatic treatment Sturge–Weber syndrome vascular malformation |
| url | https://doi.org/10.1002/cns3.20058 |
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