Related Experiment Video
Updated: Oct 5, 2025
Author Spotlight: Repetitive Transcranial Magnetic Stimulation Combined with Movement Observation in Cerebral Palsy
Published on: August 9, 2024
Response to treatment and outcomes of infantile spasms in Down syndrome
Susan Harvey1, Nicholas M Allen2,3, Mary D King1,4
1Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
Insights
Infantile spasms in Down syndrome occurred in 3.0% of cases. While 88% achieved spasm cessation, many faced ongoing seizures and developmental issues, with prednisolone showing effectiveness and tolerability.
Area of Science:
- Pediatric Neurology
- Genetics
- Epilepsy Research
Background:
- Down syndrome is associated with a higher risk of infantile spasms.
- Understanding the outcomes of infantile spasms in this population is crucial for clinical management.
Purpose of the Study:
- To determine the prevalence of infantile spasms in children with Down syndrome.
- To evaluate the presentation, treatment response, side effects, and long-term seizure and developmental outcomes.
Main Methods:
- A 10-year retrospective multicentre review of clinical records.
- Inclusion of all known cases of children with Down syndrome and infantile spasms on the island of Ireland.
Main Results:
- Prevalence of infantile spasms in Down syndrome was 3.0%.
- Spasm cessation was achieved in 88% of infants, with a median onset at 201 days.
- At follow-up, 25% had ongoing seizures and 85% had developmental concerns. Vigabatrin caused side effects in 52% of cases.
Conclusions:
- Prednisolone is an effective and well-tolerated first-line treatment for infantile spasms in Down syndrome.
- Despite high spasm cessation rates, significant long-term developmental concerns and ongoing seizures persist in this population.
Aim:
To estimate the prevalence, and evaluate presentation, treatment response, treatment side effects, and long-term seizure outcomes in all known cases of children with Down syndrome and infantile spasms on the island of Ireland.
Method:
This was a 10-year retrospective multicentre review of clinical records and investigations, focusing on treatment response, side effects, and long-term outcomes.
Results:
The prevalence of infantile spasms in Down syndrome was 3.0% during the study period. Fifty-four infants were identified with median age of spasm onset at 201 days (interquartile range [IQR] 156-242). Spasm cessation was achieved in 88% (n=46) at a median of 110 days (IQR 5-66). The most common first-line medications were prednisolone (n=20, 37%), vigabatrin (n=18, 33.3%), and sodium valproate (n=9, 16.7%). At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 days did not correlate with spasm cessation. Seventeen children (31%) experienced medication side effects, with vigabatrin accounting for 52%.
Interpretation:
Prednisolone is an effective and well-tolerated medication for treating infantile spasms in Down syndrome. Despite the high percentage of spasm cessation, developmental concerns and ongoing seizures were common.
