An epileptic spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood often called West Syndrome. These are more commonly called infantile spasms (IS) because they are seen most often in the first year of life, typically between ages 4 and 8 months.

Characteristics include:

• Epileptic spasms
• Developmental problems
• A specific brain wave pattern on electroencephalography (EEG) testing called hypsarrhythmia

The seizures often look like a sudden bending forward of the body with stiffening of the arms and legs lasting for one to two seconds; some children arch their backs as they extend their arms and legs. Spasms tend to happen when the infant wakes up, and often happen in many clusters, with hundreds of seizures per day.

The outlook for children with IS depends mainly on what is causing the spasms. Many babies with IS have neurological impairment before spasms begin, so they are likely to have intellectual challenges (in other words, challenges with learning and thinking). Children may do well if:

• They receive treatment quickly after the infantile spasms start
• They develop normally before the spasms start
• No cause for their spasms can be found

Infantile spasms usually stop by age 4 or 5. But more than half of children who have IS will develop other types of seizures, like Lennox-Gastaut syndrome, an epileptic disorder of later childhood. Children with IS have a higher risk of autism.

Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to IS, making it important to identify the underlying cause. In some children, no cause can be found.

Accurate diagnosis of epilepsy is crucial for finding an effective treatment. Several tests are used to determine whether a person has epilepsy and, if so, what kind of seizures the person has. Generally, epilepsy is diagnosed after a person has had two or more unprovoked seizures separated by at least 24 hours.

Medical history

Taking a detailed medical history, including symptoms and duration of the seizures, is still one of the best methods available to determine what kind of seizures a person has had and to help determine what type of epilepsy the person has. The medical history should include details about any past illnesses or other symptoms a person may have had, as well as any family history of seizures.

Since people who have a seizure often do not remember what happened, accounts from people who have witnessed the seizures are very important. The person who experienced the seizure is asked about whether they felt anything unique (warning experiences) before the seizure started. The observers will be asked to provide a detailed description and timeline for the seizure.

Imaging and monitoring epilepsy

There are several scans and imaging techniques that can help diagnose and monitor a person's epilepsy. These include:

• An electroencephalogram (EEG), a test that measures electrical activity in the brain, can look for abnormalities in the person's brain waves and may help to determine if antiseizure drugs would help. Video monitoring may be used in conjunction with EEG to determine the nature of a person's seizures and to rule out other disorders that may look like epilepsy.
• SEEG (stereoelectoencephalograpy) is the surgical implantation of electrodes into the brain in order to better find where the seizures are located. SEEG can help determine if an individual is a candidate for epilepsy surgery. A magnetoencephalogram (MEG) measures the magnetic signals generated by neurons to help find unusual brain activity. MEG can help surgeons plan any appropriate surgeries to remove focal areas involved in seizures while minimizing interference with normal brain function.
• CT (computerized tomography) and MRI (magnetic resonance imaging) scans reveal structural abnormalities of the brain such as tumors and cysts, which may cause seizures. A type of MRI called functional MRI (fMRI) can be used to localize normal brain activity and detect abnormalities in brain function.
• PET (positron emission tomography)scans take pictures of the brain and show regions of the brain with normal and abnormal chemical activity. PET scans can be used to identify brain regions with lower-than-normal metabolism, which can indicate the focus of the seizure after it has stopped.
• Single photon emission computed tomography (SPECT) is sometimes used to find the location of focal seizures in the brain. In a person admitted to the hospital for epilepsy monitoring, the SPECT blood flow tracer is injected within 30 seconds of a seizure. The images of brain blood flow at the time of the seizure are compared with blood flow images taken in between seizures. The seizure onset area shows a high blood flow region on the scan.

Blood tests

Blood tests can screen for metabolic or genetic disorders that may contribute to the seizures. They also may be used to check for underlying health conditions such as infections, lead poisoning, anemia, and diabetes that may be causing or triggering the seizures.

Developmental, neurological, and behavioral tests

Tests to measure motor abilities, behavior, and intellectual ability often are used to determine how epilepsy is affecting an individual. These tests also can provide clues about what kind of epilepsy the person has.

Getting the seizures to stop and the EEG to improve is the goal of treatment (hypsarrhythmia should stop).

The first-line of treatment uses hormones (like adrenocorticotrophic hormone [ACTH] or prednisolone) or the anti-seizure drug vigabatrin. These treatments are very effective, but they have serious side effects. Parents and caregivers should discuss these treatments with a pediatric neurologist (a doctor who specializes in children's nervous system).

In some children, brain lesions cause the spasms. IS may decrease if these lesions are removed by surgery.

When standard treatments do not improve IS, doctors may suggest other options like the ketogenic diet and anti-seizure drugs.

It is very important for treatment to start as soon as possible. If spams (and hypsarrhythmia) continue, they can have negative effects on the development of a child's brain.