| Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea |
Sun Ah Choi1 
, Minhye Kim2
, Hye Jin Kim3
, Woo Joong Kim4
, Byung Chan Lim4
, Ji Yeon Han5
, Hunmin Kim6
, Min-Jee Kim7
, Mi-Sun Yum7
, Jiwon Lee8
, Jeehun Lee8
, Hyewon Woo9
, Jon Soo Kim9
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1Department of Pediatrics, Ewha Womans University Mokdong Hospital, Ewha Womans University College of Medicine, Seoul, Korea
2Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea
3Department of Pediatrics, Seoul National University Boramae Hospital, Seoul National University College of Medicine, Seoul, Korea
4Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea
5Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, Korea
6Department of Pediatrics, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea
7Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea
8Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
9Department of Pediatrics, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, Korea |
Correspondence:
Jon Soo Kim, Tel: 043-269-7342 , Fax: 043-269-6064, Email: pedkjs79@naver.com
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Received: 8 September 2025 • Revised: 5 November 2025 • Accepted: 14 November 2025 |
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| Abstract |
Background
Infantile epileptic spasms syndrome (IESS) is a severe form of infantile epilepsy with a high lifetime morbidity burden.
Purpose
We aimed to assess the long-term epilepsy and neurodevelopmental outcomes based on how children with IESS have been managed over the past few decades.
Methods
This retrospective multicenter study included children diagnosed with IESS between 1994 and 2021 with a minimum follow-up period of 2 years. Data on demographics, clinical features, medical history, diagnostic evaluations, and treatments used to control spasms were collected. Epilepsy and neurodevelopmental outcomes were assessed at final follow-up.
Results
A total of 378 infants with IESS were included. The mean age at onset of spasms was 7.3 (range, 1–24) months and mean follow-up duration was 7.9 (range, 2–28) years. Etiologies were identified in 65.1% of cases, with acquired structural etiologies being the most prevalent (29.9%). Among the genetic and genetic-structural etiologies, tuberous sclerosis complex (n=35), Down syndrome (n=8), Miller-Dieker syndrome (n=3), and 15q duplication syndrome (n=3) were the most common. Vigabatrin was prescribed to 93.9% of the patients, suggesting that it was the mainstay of treatment. At the last follow-up, 77.8% of the children remained on antiseizure medications and 29.1% had drug-resistant epilepsy. Approximately 90% had intellectual disabilities, and half of the eligible individuals had received special education.
Conclusion
The IESS imposes a substantial burden on affected children and their families and often leads to chronic epilepsy and impaired cognitive function. Consensus diagnostic and treatment guidelines tailored to the Korean clinical practice are necessary to ensure early diagnosis and timely treatment. |
| Key Words:
Infantile spasms, Epilepsy, Treatment outcome, Growth and development, Practice guideline |
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