Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21
BackgroundInfantile Epileptic Spasms Syndrome (IESS) is the most common epilepsy syndrome in children with trisomy 21. First-line standard treatments for IESS include adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin. Among children with trisomy 21 and IESS, treatment with ACT...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1498425/full |
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| author | Henry Chen Henry Chen Adam L. Numis Adam L. Numis Renée A. Shellhaas John R. Mytinger Debopam Samanta Rani K. Singh Rani K. Singh Shaun A. Hussain Danielle Takacs Kelly G. Knupp Li-Rong Shao Carl E. Stafstrom |
| author_facet | Henry Chen Henry Chen Adam L. Numis Adam L. Numis Renée A. Shellhaas John R. Mytinger Debopam Samanta Rani K. Singh Rani K. Singh Shaun A. Hussain Danielle Takacs Kelly G. Knupp Li-Rong Shao Carl E. Stafstrom |
| author_sort | Henry Chen |
| collection | DOAJ |
| description | BackgroundInfantile Epileptic Spasms Syndrome (IESS) is the most common epilepsy syndrome in children with trisomy 21. First-line standard treatments for IESS include adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin. Among children with trisomy 21 and IESS, treatment with ACTH or oral corticosteroids may yield higher response rates compared with vigabatrin. However, supporting data are largely from single-center, retrospective cohort studies.MethodsLeveraging the multi-center, prospective National Infantile Spasms Consortium (NISC) database, we evaluated the efficacy of first-line (standard) treatments for IESS in children with trisomy 21. We assessed clinical spasms remission at two weeks, clinical spasms remission at three months, and improvement of EEG (resolution of hypsarrhythmia) three months after initiation of treatment.ResultsThirty four of 644 (5.3%) children with IESS were diagnosed with trisomy 21. In all children with trisomy 21, epileptic spasms was their presenting seizure type. Twenty of 34 (59%) children were initially treated with ACTH, nine (26%) with oral corticosteroids, and five (15%) with vigabatrin. Baseline demographics did not vary among treatment groups. The overall clinical remission rate after two weeks of treatment was 53% including 13 of 20 (65%) receiving ACTH, three of nine (33%) receiving oral corticosteroids, and two of five (40%) receiving vigabatrin (p = 0.24). The continued clinical response rate at three months was 32% including 8 of 20 (40%) receiving ACTH, two of nine (22%) receiving oral corticosteroids, and one of five (20%) receiving vigabatrin. Thirty of the 34 (88%) children presented with hypsarrhythmia (88%). EEG improvement at three months was better for children treated with ACTH (74%) or oral corticosteroids (83%) than vigabatrin (20%; p = 0.048). Adjustment for time from epileptic spasms onset to treatment did not alter results.ConclusionsIn our cohort, epileptic spasms were the first presenting seizure type in all children with trisomy 21. Among first-line standard treatment options, ACTH may have superior efficacy for clinical and electrographic outcomes for IESS in children with trisomy 21. |
| format | Article |
| id | doaj-art-7f12593beb0f492d914ba48a57f33d42 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj-art-7f12593beb0f492d914ba48a57f33d422025-02-12T07:25:36ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-02-011310.3389/fped.2025.14984251498425Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21Henry Chen0Henry Chen1Adam L. Numis2Adam L. Numis3Renée A. Shellhaas4John R. Mytinger5Debopam Samanta6Rani K. Singh7Rani K. Singh8Shaun A. Hussain9Danielle Takacs10Kelly G. Knupp11Li-Rong Shao12Carl E. Stafstrom13Department of Neurology and Weill Institute for Neuroscience, University of California San Francisco, San Francisco, CA, United StatesDepartment of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco, San Francisco, CA, United StatesDepartment of Neurology and Weill Institute for Neuroscience, University of California San Francisco, San Francisco, CA, United StatesDepartment of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco, San Francisco, CA, United StatesDepartment of Neurology, Washington University at St. Louis, St. Louis, MO, United StatesDivision of Pediatric Neurology, Department of Pediatrics, Nationwide Children’s Hospital, The Ohio State University, Columbus, OH, United StatesDepartment of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, United StatesDepartment of Pediatrics, Atrium Health-Levine Children’s Hospital, Charlotte, NC, United StatesDepartment of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, NC, United StatesDivision of Pediatric Neurology, Department of Pediatrics, University of California, Los Angeles, CA, United StatesDepartment of Pediatric Neurology and Developmental Neuroscience, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX, United States0Departments of Pediatrics and Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, United States1Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University, Baltimore, MD, United States1Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University, Baltimore, MD, United StatesBackgroundInfantile Epileptic Spasms Syndrome (IESS) is the most common epilepsy syndrome in children with trisomy 21. First-line standard treatments for IESS include adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin. Among children with trisomy 21 and IESS, treatment with ACTH or oral corticosteroids may yield higher response rates compared with vigabatrin. However, supporting data are largely from single-center, retrospective cohort studies.MethodsLeveraging the multi-center, prospective National Infantile Spasms Consortium (NISC) database, we evaluated the efficacy of first-line (standard) treatments for IESS in children with trisomy 21. We assessed clinical spasms remission at two weeks, clinical spasms remission at three months, and improvement of EEG (resolution of hypsarrhythmia) three months after initiation of treatment.ResultsThirty four of 644 (5.3%) children with IESS were diagnosed with trisomy 21. In all children with trisomy 21, epileptic spasms was their presenting seizure type. Twenty of 34 (59%) children were initially treated with ACTH, nine (26%) with oral corticosteroids, and five (15%) with vigabatrin. Baseline demographics did not vary among treatment groups. The overall clinical remission rate after two weeks of treatment was 53% including 13 of 20 (65%) receiving ACTH, three of nine (33%) receiving oral corticosteroids, and two of five (40%) receiving vigabatrin (p = 0.24). The continued clinical response rate at three months was 32% including 8 of 20 (40%) receiving ACTH, two of nine (22%) receiving oral corticosteroids, and one of five (20%) receiving vigabatrin. Thirty of the 34 (88%) children presented with hypsarrhythmia (88%). EEG improvement at three months was better for children treated with ACTH (74%) or oral corticosteroids (83%) than vigabatrin (20%; p = 0.048). Adjustment for time from epileptic spasms onset to treatment did not alter results.ConclusionsIn our cohort, epileptic spasms were the first presenting seizure type in all children with trisomy 21. Among first-line standard treatment options, ACTH may have superior efficacy for clinical and electrographic outcomes for IESS in children with trisomy 21.https://www.frontiersin.org/articles/10.3389/fped.2025.1498425/fullinfantile spasmsinfantile epileptic spasms syndromeDown syndrometrisomy 21anti-seizure medicationshypsarrhythmia |
| spellingShingle | Henry Chen Henry Chen Adam L. Numis Adam L. Numis Renée A. Shellhaas John R. Mytinger Debopam Samanta Rani K. Singh Rani K. Singh Shaun A. Hussain Danielle Takacs Kelly G. Knupp Li-Rong Shao Carl E. Stafstrom Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 Frontiers in Pediatrics infantile spasms infantile epileptic spasms syndrome Down syndrome trisomy 21 anti-seizure medications hypsarrhythmia |
| title | Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 |
| title_full | Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 |
| title_fullStr | Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 |
| title_full_unstemmed | Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 |
| title_short | Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 |
| title_sort | treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 |
| topic | infantile spasms infantile epileptic spasms syndrome Down syndrome trisomy 21 anti-seizure medications hypsarrhythmia |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1498425/full |
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