Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome
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 bee...
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| Veröffentlicht in: | Annals of the Child Neurology Society 2024-03, Vol.2 (1), p.60-72 |
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| creator | Valery, Chelsea B. Iannotti, Isabelle Kossoff, Eric H. Zabel, Andrew Cohen, Bernard Ou, Yangming Pinto, Anna Comi, Anne M. |
| description | 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 |
| doi_str_mv | 10.1002/cns3.20058 |
| format | Article |
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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.</description><identifier>ISSN: 2831-3267</identifier><identifier>ISSN: 1755-5930</identifier><identifier>EISSN: 2831-3267</identifier><identifier>EISSN: 1755-5949</identifier><identifier>DOI: 10.1002/cns3.20058</identifier><identifier>PMID: 38745912</identifier><language>eng</language><publisher>United States: John Wiley & Sons, Inc</publisher><subject>Age ; Aspirin ; Biomarkers ; Brain research ; Clinical trials ; Cognitive ability ; Convulsions & seizures ; Demographics ; EEG ; Electroencephalography ; Epilepsy ; Etiracetam ; Firing pattern ; Intellectual disabilities ; Magnetic resonance imaging ; Oxcarbazepine ; Paresis ; Patients ; presymptomatic treatment ; Review boards ; Seizures ; Sturge–Weber syndrome ; Tuberous sclerosis ; Valproic acid ; vascular malformation</subject><ispartof>Annals of the Child Neurology Society, 2024-03, Vol.2 (1), p.60-72</ispartof><rights>2024 The Authors. published by Wiley Periodicals LLC on behalf of the Child Neurology Society.</rights><rights>2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3048-cb308023977fe8ae54146d5560b820ff21c8e2d2d3d616f12c1fc552bc3a4613</citedby><cites>FETCH-LOGICAL-c3048-cb308023977fe8ae54146d5560b820ff21c8e2d2d3d616f12c1fc552bc3a4613</cites><orcidid>0000-0002-7585-6706</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,864,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38745912$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Valery, Chelsea B.</creatorcontrib><creatorcontrib>Iannotti, Isabelle</creatorcontrib><creatorcontrib>Kossoff, Eric H.</creatorcontrib><creatorcontrib>Zabel, Andrew</creatorcontrib><creatorcontrib>Cohen, Bernard</creatorcontrib><creatorcontrib>Ou, Yangming</creatorcontrib><creatorcontrib>Pinto, Anna</creatorcontrib><creatorcontrib>Comi, Anne M.</creatorcontrib><title>Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome</title><title>Annals of the Child Neurology Society</title><addtitle>Ann Child Neurol Soc</addtitle><description>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.</description><subject>Age</subject><subject>Aspirin</subject><subject>Biomarkers</subject><subject>Brain research</subject><subject>Clinical trials</subject><subject>Cognitive ability</subject><subject>Convulsions & seizures</subject><subject>Demographics</subject><subject>EEG</subject><subject>Electroencephalography</subject><subject>Epilepsy</subject><subject>Etiracetam</subject><subject>Firing pattern</subject><subject>Intellectual disabilities</subject><subject>Magnetic resonance imaging</subject><subject>Oxcarbazepine</subject><subject>Paresis</subject><subject>Patients</subject><subject>presymptomatic treatment</subject><subject>Review boards</subject><subject>Seizures</subject><subject>Sturge–Weber syndrome</subject><subject>Tuberous sclerosis</subject><subject>Valproic acid</subject><subject>vascular malformation</subject><issn>2831-3267</issn><issn>1755-5930</issn><issn>2831-3267</issn><issn>1755-5949</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNp9kdFq1jAYhoMobsydeAFS8ESEfyZfkjY9lB-dg6ngBh6GNP0yMtqmJqnSM-9hd-iVmK1ziAceJYSHJy_vS8hzRk8YpfDGTomfAKVSPSKHoDjbcaibx3_dD8hxSr6jom0B2qZ5Sg64aoRsGRySj18wx5BmtNl_x8pMZliTT1Vw1RwxreOcw2iyt1WOaPKIU678VF3kJV7hr583X7HDWKV16mMY8Rl54syQ8Pj-PCKX799d7j_szj-fnu3fnu8sp0LtbMeposBLGIfKoBRM1L2UNe0UUOeAWYXQQ8_7mtWOgWXOSgmd5UbUjB-Rs03bB3Ot5-hHE1cdjNd3DyFeaRNL5gE1QguiFNUY5KL82yrXoemFlWiBc1lcrzbXHMO3BVPWo08Wh8FMGJakOZVSSMZ4W9CX_6DXYYmlsaRLr5yWhgEK9XqjbOk1RXQPARnVt5Pp28n03WQFfnGvXLoR-wf0z0AFYBvwww-4_kel958u-Cb9DbopoIo</recordid><startdate>202403</startdate><enddate>202403</enddate><creator>Valery, Chelsea B.</creator><creator>Iannotti, Isabelle</creator><creator>Kossoff, Eric H.</creator><creator>Zabel, Andrew</creator><creator>Cohen, Bernard</creator><creator>Ou, Yangming</creator><creator>Pinto, Anna</creator><creator>Comi, Anne M.</creator><general>John Wiley & Sons, Inc</general><general>Wiley</general><scope>24P</scope><scope>WIN</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-7585-6706</orcidid></search><sort><creationdate>202403</creationdate><title>Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome</title><author>Valery, Chelsea B. ; Iannotti, Isabelle ; Kossoff, Eric H. ; Zabel, Andrew ; Cohen, Bernard ; Ou, Yangming ; Pinto, Anna ; Comi, Anne M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3048-cb308023977fe8ae54146d5560b820ff21c8e2d2d3d616f12c1fc552bc3a4613</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Age</topic><topic>Aspirin</topic><topic>Biomarkers</topic><topic>Brain research</topic><topic>Clinical trials</topic><topic>Cognitive ability</topic><topic>Convulsions & seizures</topic><topic>Demographics</topic><topic>EEG</topic><topic>Electroencephalography</topic><topic>Epilepsy</topic><topic>Etiracetam</topic><topic>Firing pattern</topic><topic>Intellectual disabilities</topic><topic>Magnetic resonance imaging</topic><topic>Oxcarbazepine</topic><topic>Paresis</topic><topic>Patients</topic><topic>presymptomatic treatment</topic><topic>Review boards</topic><topic>Seizures</topic><topic>Sturge–Weber syndrome</topic><topic>Tuberous sclerosis</topic><topic>Valproic acid</topic><topic>vascular malformation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Valery, Chelsea B.</creatorcontrib><creatorcontrib>Iannotti, Isabelle</creatorcontrib><creatorcontrib>Kossoff, Eric H.</creatorcontrib><creatorcontrib>Zabel, Andrew</creatorcontrib><creatorcontrib>Cohen, Bernard</creatorcontrib><creatorcontrib>Ou, Yangming</creatorcontrib><creatorcontrib>Pinto, Anna</creatorcontrib><creatorcontrib>Comi, Anne M.</creatorcontrib><collection>Wiley-Blackwell Open Access Titles</collection><collection>Wiley Free Content</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Biological Science Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Annals of the Child Neurology Society</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Valery, Chelsea B.</au><au>Iannotti, Isabelle</au><au>Kossoff, Eric H.</au><au>Zabel, Andrew</au><au>Cohen, Bernard</au><au>Ou, Yangming</au><au>Pinto, Anna</au><au>Comi, Anne M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome</atitle><jtitle>Annals of the Child Neurology Society</jtitle><addtitle>Ann Child Neurol Soc</addtitle><date>2024-03</date><risdate>2024</risdate><volume>2</volume><issue>1</issue><spage>60</spage><epage>72</epage><pages>60-72</pages><issn>2831-3267</issn><issn>1755-5930</issn><eissn>2831-3267</eissn><eissn>1755-5949</eissn><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.</abstract><cop>United States</cop><pub>John Wiley & Sons, Inc</pub><pmid>38745912</pmid><doi>10.1002/cns3.20058</doi><tpages>13</tpages><orcidid>https://orcid.org/0000-0002-7585-6706</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Age Aspirin Biomarkers Brain research Clinical trials Cognitive ability Convulsions & seizures Demographics EEG Electroencephalography Epilepsy Etiracetam Firing pattern Intellectual disabilities Magnetic resonance imaging Oxcarbazepine Paresis Patients presymptomatic treatment Review boards Seizures Sturge–Weber syndrome Tuberous sclerosis Valproic acid vascular malformation |
| title | Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome |
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