Infantile spasms (IS), also known as West syndrome, is a severe epilepsy diagnosis defined by a triad of infantile spasms, often an abnormal EEG pattern (hypsarrhythmia), and developmental regression. IS affects infants between 4 and 12 months old and accounts for as much as 5% of all childhood-onset epilepsy. Research has shown that accurate initial evaluation and treatment is essential for patients with IS as over 40% of patients do not respond to the first treatment therapy. Infantile spasms can present as sudden “jerking” or “startle” movements of the neck, arms, legs and trunk. However, they can also present as smaller or subtle movements of the eyes, head or shoulders. Usually, infantile spasms occur in clusters of several seizures in a row. There are several causes of infantile spasms such as structural, metabolic, genetic, or of unknown cause.
The diagnosis of infantile spasms can be delayed for weeks or months because parents, and even physicians, may not recognize the movements as seizures. The epileptic spasms may be misdiagnosed as manifestations of colic, Moro reflexes, or startle responses by pediatricians. Early recognition of infantile spasms is essential to timely initiation of treatment.