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Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21
Henry Chen1,2, Adam L Numis1,2, Renée A Shellhaas3
1Department of Neurology and Weill Institute for Neuroscience, University of California San Francisco, San Francisco, CA, United States.
Insights
Adrenocorticotropic hormone (ACTH) and oral corticosteroids may be more effective than vigabatrin for treating infantile epileptic spasms syndrome in children with Down syndrome. These findings suggest ACTH may offer superior clinical and electrographic outcomes.
Area of Science:
- Pediatric Neurology
- Genetics
- Epilepsy Research
Background:
- Infantile Epileptic Spasms Syndrome (IESS) is a common epilepsy in children with trisomy 21.
- Standard first-line treatments include adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin.
- Previous data suggest ACTH or oral corticosteroids may be more effective than vigabatrin, but evidence is limited.
Purpose of the Study:
- To evaluate the efficacy of first-line treatments for IESS in children with trisomy 21.
- To compare response rates and EEG improvement among ACTH, oral corticosteroids, and vigabatrin.
- To leverage the multi-center, prospective National Infantile Spasms Consortium (NISC) database.
Main Methods:
- Prospective evaluation of 34 children with trisomy 21 and IESS from the NISC database.
- Assessment of clinical spasms remission at 2 weeks and 3 months.
- Evaluation of EEG improvement (hypsarrhythmia resolution) at 3 months.
Main Results:
- 59% received ACTH, 26% oral corticosteroids, 15% vigabatrin.
- 2-week clinical remission rates: 65% (ACTH), 33% (steroids), 40% (vigabatrin).
- 3-month EEG improvement was significantly better with ACTH (74%) or steroids (83%) compared to vigabatrin (20%).
Conclusions:
- In children with trisomy 21 and IESS, ACTH and oral corticosteroids demonstrated better clinical and electrographic outcomes than vigabatrin.
- ACTH may offer superior efficacy for both clinical and electrographic outcomes in this population.
- Epileptic spasms were the presenting seizure type in all evaluated children with trisomy 21.
Background:
Infantile 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.
Methods:
Leveraging 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.
Results:
Thirty 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.
Conclusions:
In 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.
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