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Treatment outcomes of West syndrome in infants with Down syndrome
Oranee Sanmaneechai1, Yoshimi Sogawa, Wendy Silver
1Saul R. Korey Department of Neurology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, USA. oranee141@gmail.com
Insights
West syndrome is common in infants with Down syndrome. High-dose adrenocorticotrophic hormone (ACTH) effectively treats infantile spasms, but relapses are frequent, necessitating close follow-up.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- West syndrome is the most common seizure type in infants with Down syndrome.
- Infants with Down syndrome and West syndrome present with classic hypsarrhythmia on EEG.
Purpose of the Study:
- To evaluate treatment outcomes and long-term prognosis for infants with Down syndrome and West syndrome.
Main Methods:
- Retrospective review of 12 infants with Down syndrome and West syndrome from an epilepsy database.
- Analysis of treatment responses to clonazepam and adrenocorticotrophic hormone (ACTH).
- Assessment of seizure control, developmental outcomes, and relapse rates.
Main Results:
- Seven of 10 infants treated with high-dose ACTH showed complete initial response.
- Relapses occurred in 57% of initially responsive infants, up to 2 years later.
- At follow-up (median age 5 years), 67% were seizure-free, with seven off medication.
- Two non-responders had intractable epilepsy and profound intellectual disability.
- Autistic spectrum disorder was diagnosed in 6/8 assessed infants.
Conclusions:
- High-dose ACTH is effective for initial treatment of West syndrome in Down syndrome infants.
- Frequent relapses necessitate ongoing monitoring, even after initial treatment success.
- Long-term outcomes include a significant risk of intractable epilepsy, intellectual disability, and autistic spectrum disorder.
Abstract:
West syndrome constitutes the most frequent of all seizure types in infants with Down syndrome. We retrospectively reviewed records of 12 infants with Down syndrome and West syndrome, accounting for 5% of 239 infants with West syndrome from a comprehensive epilepsy database during a 17-year period. All demonstrated classic hypsarrhythmia on video electroencephalograms. One had clinically responded to clonazepam, and one was not treated because the parents refused any treatment. Seven of 10 infants demonstrated a complete response to high-dose natural adrenocorticotrophic hormone. Four (57%) of these seven infants relapsed. Relapses occurred as long as 2 years after cessation of the initial presentation of infantile spasms. At most recent follow-up (median age, 5 years), 8/12 (67%) were seizure-free, and seven were off any medications. Two of three nonresponders manifested intractable epilepsy and profound mental retardation. Developmentally, 6/8 who could be assessed met criteria for autistic spectrum disorder. Close follow-up is necessary even after successful initial treatment, because relapses are frequent and can occur as long as 2 years later.
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