Infantile spasms in children with Down syndrome

Area of Science:

• Pediatric Neurology
• Genetics
• Epileptology

Background:

• Down syndrome (DS) is the most common genetic cause of intellectual disability.
• Seizures, particularly infantile spasms (IS), affect 5-13% of individuals with DS.
• IS typically present in infancy and are often associated with hypsarrhythmia on EEG.

Purpose of the Study:

• To evaluate the efficacy of Adrenocorticotropic hormone (ACTH) in treating infantile spasms (IS) in children with Down syndrome (DS).
• To assess the long-term seizure control and EEG changes following ACTH treatment in this population.

Main Methods:

• Retrospective case series of 11 children with DS and IS treated at Children's Hospital Zagreb (2000-2009).
• Initial treatment with antiepileptic drugs (AEDs), followed by ACTH if ineffective.
• EEG monitoring for hypsarrhythmia and epileptogenic changes.
• Follow-up duration ranged from 2 years 7 months to 9 years 5 months.

Main Results:

• Initial AED treatment (primarily valproic acid) was ineffective in 10 out of 11 patients.
• ACTH treatment led to cessation of IS within 7-28 days in all 11 patients.
• Hypsarrhythmia resolved in all children post-ACTH therapy.
• No new seizure types or significant epileptogenic EEG changes were observed during follow-up.
• AEDs were discontinued in 4 children; one patient died of unrelated heart failure.

Conclusions:

• Infantile spasms in Down syndrome are typically symptomatic, preceded by cerebral pathology and developmental delay.
• ACTH therapy is highly effective in achieving seizure control and resolving hypsarrhythmia in children with DS and IS.
• Combined ACTH and AED treatment offers a viable strategy for managing IS in this vulnerable population.