West Syndrome is part of our Childhood Epilepsy Panel (NGS). Click here to access a complete list of the genes covered in this panel.
West's syndrome, also known as Infantile Spasms (IS) is a severe form of encephalopathy usually affecting infants under the age of 2, age of onset usually ocurring between 3 and 12 months, and stopping between ages 2 and 4. The incidence of West syndrome ranges from 2 to 3.5/10,000 live births. West is etiologically classified in cryptogenic or symptomatic, being the first more favorable and reactive to early treatment.
The spasms consist on a sudden jerk followed by stiffening. The seizures are short and last only one or two seconds, but they often occur in series. The body often bends forward while the knees are pulled up and the arms are flung out ("jackknife seizures"). However, seizures can also cause the head to be thrown back while the rest of the body stiffens in a straight position. Other times, these seizures can be more subtle or limited to neck or other body parts.
Infantile spasms are most common just after waking up and rarely occur during sleep. As well as the myoclonic-tonic seizures, a distinctive EEG is present, as well as delay or pause in development. Babies with this syndrome seem to stop developing and may even lose already mastered skills.
All of Amplexa's neurology tests can be found in our Neurology Brochure.