West Syndrome: Symptoms, Causes, Diagnosis, Complications, Treatment and Overview

Also called infantile spasms, they can be described as short and sometimes subtle seizures that occur in babies.

These seizures are actually a rare form of  epilepsy . Only about 2,500 babies each year will be diagnosed with the disease in the United States.

The spasms generally occur between four months and one year of age.

According to a review article published in the Iranian Journal of Child Neurology, only 8 percent of cases are diagnosed in babies older than one year.

Symptoms of west syndrome

According to the American Epilepsy Society, the symptoms are often a series of jerky jerking movements in the extremities, accompanied by a fall on the head and / or a bending at the waist. Spasms usually occur in groups and last only a few seconds.

Experts from the Washington University School of Medicine in St. Louis report that up to 80 percent of infantile spasms occur in groups of 2 to more than 100 seizures. Generally, when the infant wakes up, seizures occur.

Causes of infantile spasms

Infant spasms are a disorder caused by a brain abnormality or injury that can occur before or after birth. According to the Child Neurology Foundation, 70 percent of infantile spasms have a known cause. Causes can include things like:

  • Brain tumors.
  • Genetic or chromosomal abnormalities.
  • A birth injury.
  • Brain infection
  • A problem with brain development while the baby is still in the womb.

While doctors don’t fully understand the reason for the connection, these things can cause chaotic brain wave activity that results in frequent spasms. In all other cases, the cause of the spasms is unknown, but it may be the result of an unidentified neurological problem.

How Infantile Spasms Are Diagnosed

If a doctor suspects infantile spasms, they will order an electroencephalogram (EEG), which is easy to obtain and usually diagnostic. If this test is not conclusive, they may order a test called a video-electroencephalogram (video-EEG).

With this test, as with a regular EEG, electrodes are placed on the baby’s skull to help caregivers visualize brain wave patterns. A video then captures the baby’s behavior. A physician, usually a pediatric neurologist, will observe brain wave activity during and between spasms.

These tests usually last one to several hours, and can be done in a doctor’s office, laboratory, or hospital. They may also need to be repeated after several days.

Most children with infantile spasms will have disorganized brain wave activity. This is known as modified hypsarrhythmia. Very chaotic brain wave activity to a milder response, known as hypsarrhythmia, can be seen in about two-thirds of children with this disorder.

If your child is diagnosed with infantile spasms, your doctor may also order other tests to see why the spasms occur. For example, an MRI can take pictures of the brain and show abnormalities in its structure. Genetic testing can identify the genetic reasons that contribute to seizures.

It is important that you seek medical help immediately if you think your baby has infantile spasms. The disorder can have very serious developmental consequences, especially if it is not treated. Your child has the best chance of limiting these negative effects with early intervention.

In a recent study presented at the annual meeting of the American Epilepsy Society, nearly half of babies with the disorder were misdiagnosed for a month or more, and some went undiagnosed for years. It is important to be aggressive in your search for answers.

Complications of infantile spasms

In research published in the Annals of Indian Academy Neurology, three years after diagnosis, approximately 88 percent of the children studied had problems in some or all of the following:

  • Vista.
  • Speaks.
  • Hearing.
  • Writting skills.
  • Fine and coarse motor development.

Additionally, nearly 75 percent of the participants had some autistic traits. In another study cited by researchers, 80 percent of 10-year-olds with diagnosed infantile spasms had some type of intellectual disability.

Research indicates that when the syndrome is diagnosed promptly and there are no apparent causes of the seizures, most infants who have this syndrome will do well (30 to 70 percent).

Treatment of infantile spasms

One of the main medications used to treat infantile spasms is adrenocorticotropic hormone (ACTH). ACTH is a hormone produced naturally in the body.

This hormone is injected into the patient’s muscles to stop spasms and is very effective. This is given in very small doses over a very short period of time because it is a very strong drug that causes dangerous side effects. Side effects can include:

  • Infection.
  • Ulcers.
  • High blood pressure
  • Brain bleeding.

Doctors sometimes use therapies that include steroids (such as prednisone) and medications such as vigabatrin (also known as sabril, which is an anticonvulsant). Like ACTH, both drugs have significant side effects.

You and your doctor will need to discuss the best treatment for your little one. ACTH may be slightly more effective than vigabatrin in treating the disorder, but the evidence is weak.

Doctors may recommend alternatives to drug therapies if they do not work. In specific cases, the area of ​​the brain responsible for the seizures is removed.

Doctors may also recommend eating a ketogenic diet (low in carbohydrates and high in fat).

Outlook for West syndrome

West syndrome is a very rare and complex disorder, which can have very serious consequences. It can cause problems with the development of intellectual abilities in babies and even lead to death.

Although babies no longer seem to suffer from spasms, they can still have long-term consequences such as permanent brain damage.

There are many people who despite suffering from this condition, can still have a healthy life without complications. This is possible if the anomaly causing the spasms is treated, these are well controlled and it is diagnosed in time.