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A retrospective study on aetiology based outcome of infantile spasms
Georges Karvelas1, Anne Lortie, Morris H Scantlebury
1Hôpital Sainte-Justine, Département de Pédiatrie, Université de Montréal, Canada.
Insights
Infantile spasms causes vary, with symptomatic cases often linked to brain development issues. Early diagnosis is crucial for better outcomes in infantile spasms, impacting both epilepsy and cognitive development.
Area of Science:
- Neurology
- Pediatric Neurology
- Epileptology
Background:
- Infantile spasms (IS) are a severe epilepsy syndrome in infancy.
- Understanding the causes and outcomes of IS is critical for effective management.
Purpose of the Study:
- To review the causes of infantile spasms.
- To correlate the aetiology of IS with treatment response and long-term outcomes.
Main Methods:
- Retrospective chart review of children diagnosed with IS between 1990 and 2003.
- Analysis of aetiology, treatment response (vigabatrin vs. ACTH/prednisone), and long-term epileptic and cognitive outcomes.
Main Results:
- 63% of spasms were symptomatic, primarily due to disorders of cortical development, neonatal injury, and tuberous sclerosis.
- Treatment response varied by aetiology; vigabatrin showed higher response rates in some symptomatic groups.
- Most children with symptomatic spasms had poor long-term cognitive and epileptic outcomes, with delays in diagnosis impacting results.
Conclusions:
- The aetiology and prognosis of infantile spasms are evolving.
- Reducing diagnostic delay and conducting prospective trials on epileptic and cognitive outcomes are essential for improving IS management.
Purpose:
The goal of this retrospective study is to review the causes of infantile spasms and to correlate aetiology with outcome.
Methods:
All children diagnosed with infantile spasms between 1990 and 2003 at our institution were included. Charts were reviewed for the presence or absence of a defined aetiology/association, response to treatment, long-term epileptic and cognitive outcome.
Results:
80 out of 95 children are included in this review. 50 children (63%) had symptomatic spasms with disorders of cortical development being the most frequent cause followed by neonatal injury and tuberous sclerosis. Symptomatic children with developmental brain lesions responded at a rate of 54% to vigabatrin versus 62% for ACTH/prednisone, while other symptomatic aetiologies 83% responded to vigabatrin versus 63% for ACTH/prednisone. Cryptogenic spasms responded at a similar rate to both drugs. Other than children with cryptogenic spasms, very few went on to develop normally. Our results are however biased by on average more than 30 days of delay to diagnosis. None of our children developed Lennox-Gastaut syndrome but a number developed severe epilepsy with multifocal spikes.
Discussion:
The aetiology and prognosis of infantile spasms is evolving. To improve outcome, we need to reduce the delay to diagnosis and develop prospective double-blind randomized clinical trials looking at not only the epileptic outcome but also cognitive outcome of these children.
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