Infantile Spasms: Clinical profile and treatment outcomes

Area of Science:

• Pediatric Neurology
• Epileptology
• Clinical Pediatrics

Background:

• Infantile spasm (IS) is a severe epileptic encephalopathy affecting children under two years old.
• Understanding the clinical profile, etiology, and treatment outcomes is crucial for managing IS.
• Tertiary care centers play a vital role in diagnosing and treating complex pediatric neurological conditions.

Purpose of the Study:

• To determine the clinical characteristics, etiological factors, and treatment responses in children with infantile spasms.
• To analyze the diagnostic utility of EEG and MRI in infantile spasms.
• To evaluate the effectiveness of various anti-epileptic drugs (AEDs) in managing infantile spasms.

Main Methods:

• Retrospective study of 36 patients diagnosed with infantile spasms (IS) aged 3 months to 2 years.
• Data collected from case records at Aga Khan University Hospital, Karachi (2010-2015).
• Analysis of clinical observations, investigations, AEDs, and treatment outcomes (complete, partial, no response) after six weeks of treatment.

Main Results:

• Symptomatic etiology predominated (61%), with hypoxic ischemic insult being the most common cause (32%).
• Consanguinity (66.6%) and developmental motor delay (89%) were frequently observed.
• Vigabatrin was the most commonly used AED (88%), and EEG/MRI were key diagnostic tools.

Conclusions:

• The majority of infantile spasm cases in this cohort were symptomatic, characterized by generalized tonic-clonic and myoclonic seizures.
• EEG and MRI were effective diagnostic modalities.
• Multiple AEDs were often necessary, with vigabatrin being the preferred choice; treatment outcomes were similar for idiopathic and symptomatic IS.