Treatment outcomes for infantile spasms in Japanese children with Down syndrome

Area of Science:

• Pediatric Neurology
• Clinical Pediatrics
• Developmental Pediatrics

Background:

• Infantile spasms (IS) are a severe epilepsy syndrome.
• Children with Down syndrome (DS) have a higher incidence of IS.
• Optimal treatment for IS in DS remains unclear.

Purpose of the Study:

• To evaluate treatment response to conventional antiepileptic drugs (AEDs) and low-dose adrenocorticotropic hormone (ACTH) therapy for infantile spasms in children with Down syndrome.
• To assess seizure control, relapse rates, and developmental outcomes.
• To inform future treatment guidelines.

Main Methods:

• Retrospective investigation of 10 children with Down syndrome treated for infantile spasms.
• Analysis of response and relapse rates, electroencephalography (EEG) findings, and developmental quotient (DQ).
• Evaluation of patient characteristics during drug withdrawal and outcomes after low-dose ACTH therapy.

Main Results:

• All patients achieved spasm cessation and EEG normalization with AEDs.
• A low relapse rate (10%) was observed.
• Seventy percent of patients successfully withdrew from AEDs without seizure recurrence.
• The median DQ was unfavorable (20.5), indicating poor developmental outcome.
• Low-dose ACTH therapy showed a low seizure remission rate (28.6%).

Conclusions:

• Conventional AEDs are effective in achieving seizure control and EEG normalization for infantile spasms in children with Down syndrome.
• Despite seizure control, developmental outcomes remain poor.
• Further research is crucial to identify optimal treatments that improve both seizure control and developmental trajectories in this population.