Infantile Spasms

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What is Infantile Spasms?

Infantile spasms (IS) is a rare and severe seizure disorder, frequently presenting as an epileptic encephalopathy. The disease is associated with a variety of genetic and acquired set of causes, which has presented a significant challenge in developing treatments for patients. Current treatments can help control seizures but come with numerous risks and side effects that can be debilitating for this vulnerable population. 

Signs & Symptoms

Common symptoms include chronic clusters of spasms that may be associated with waking from sleep, jackknife seizures, where the body bends forward, the knees are pulled up, and the arms are thrown out to the side, a stiffening of the body and legs, with the head thrown back, and decreased visual alertness.

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Developmental Delay

Decreased visual alertness

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Seizures

Babbling

Neuro-developmental delays are typically the first signs of Angelman syndrome.

Babies may also have slowed development or loss of skills (such as babbling, sitting, or crawling). 

Prevalence

Infantile spasms constitutes 2% of childhood epilepsies but 25% of epilepsy with onset in the first year of life. The rate of infantile spasm is estimated to be 2.5 - 6.0 cases per 10,000 live births and most often occurs during the first year of life.