Infantile Spasms

Patient/Family Story

At first I thought Chris was just having the little body jerks when he was moved or startled, like my other children had when they were infants. But then I knew something was wrong. The jerks became more violent, and his tiny body was thrust forward and his arms flew apart. They only lasted a few seconds but started to occur in groups lasting a few minutes. Also, Chris was sitting independently before these occurred, and now he cannot sit on his own and doesn’t babble as much. It was so hard to see such a young baby having these things.

What are Infantile Spasms?

Infantile spasms (West's syndrome), a very uncommon form of epilepsy, begin between 3 and 12 months of age. The seizures, or spasms, consist of a sudden jerk followed by stiffening. With some spells, the arms are flung out as the body bends forward ("jackknife seizures"). Other spells have more subtle movements limited to the neck or other body parts. A brain disorder or brain injury, such as birth trauma with oxygen deprivation, precedes the seizures in 60% of these infants, but in the other 40% no cause can be determined, and development is normal prior to the onset of seizures.

How are Infantile Spasms Treated?

Several antiepileptic drugs and a hormonal therapy can be used to treat infantile spasms. Some experts recommend a trial of an antiepileptic drug (e.g., vigabatrin, valproate, topiramate) before hormonal therapy, but others use hormonal therapy as the first treatment. In countries where it is available, vigabatrin (Sabril) is often used as the initial therapy because it is relatively safe (especially for short-term use) and effective. Vigabatrin is especially effective in children with infantile spasms due to tuberous sclerosis (a disorder associated with abnormalities involving the brain, skin, heart, and other parts of the body).

If vigabatrin does not control the seizures in 3 or 4 days, adrenocorticotropic hormone (ACTH) is usually used next. ACTH is a hormone made by the pituitary gland. It stimulates the adrenal glands to make and release additional cortisol, which acts much like prednisone. ACTH has been proven to be slightly more effective than prednisone, but it must be given as an injection, once a day for the first several weeks, then every other day. Steroid hormones such as prednisone, on the other hand, can be given by mouth. ACTH stops seizures in more than half of children with infantile spasms.

In the United States, ACTH is often used as the first therapy and is typically given for 1 month. The dosage is highest during the first 2 weeks and then usually lowered gradually. The adverse effects of ACTH depend on the dose used, the duration of therapy, and the baby’s sensitivity to the drug. Although rare allergic reactions may occur, all other adverse effects occur because ACTH stimulates the infant’s body to produce cortisol, a steroid hormone. Excessive cortisol can cause:

  • Irritability
  • Increased appetite
  • High blood pressure
  • Kidney problems
  • Redistribution of body fat to make the face and trunk fatter and the arms and legs thinner
  • Increased risk of infection or gastrointestinal bleeding
  • Metabolic changes that alter the concentrations of glucose (sugar), sodium, and potassium in the blood.

For most babies with infantile spasms, however, the adverse effects of ACTH can be safely managed. Often the baby will be given another anti-epileptic drug after the spasms have stopped and the ACTH therapy has been completed.

What is the prognosis?

The future course of the disorder and of the child's development is related to the cause of the seizures, the child's intellectual and neurological development before the seizures began (the better the condition at that time, the better the outlook), and whether they are controlled quickly. The sooner therapy is begun, the better the results.

When the spasms stop, some children will later develop other types of seizure. Untreated children often have frequent spasms for many years, and later develop partial and generalized seizures. Approximately one-fifth of the cases of West’s syndrome will evolve into Lennox-Gastaut syndrome.