Infantile spasms

Causes of infantile spasms

Two out of three babies who experience infantile spasms have an identifiable cause for their seizures. These may include:

• Brain injury or abnormality. The seizures are caused by problems with how the brain developed in utero or by a brain injury after birth, such as can result from a lack of oxygen or bleeding in the brain.
• Genetics. Several gene mutations that affect development are associated with infantile spasms. These seizures are also linked to certain genetic conditions, such as Down syndrome.
• Metabolic disorders. Conditions that affect the body's ability to process food and get rid of waste can affect the brain and increase the risk of seizures.

Infantile spasms are not linked to family history, a baby's gender or immunizations.

Symptoms of infantile spasms

Infantile spasms may be subtle and are sometimes confused with normal baby behaviors, such as hiccups, colic or the startle reflex. However, none of these occur in clusters the way infantile spasms do.

Infantile spasms are a distinct type of seizure that may have the following features:

• A sudden stiffening, often with the arms flinging out and knees pulling up into the body
• The head thrown back as the body, arms and legs straighten and stiffen
• Small movements of the neck or other parts of the body, such as the eyes widening and rolling up (back into the head)
• Spasms that happen just after waking up and repeat in a series
• Crying during or after a spasm

Over time, the child may also show less interest in their surroundings or in social interaction. The seizures lead to a halt in development, affecting skills such as sitting, rolling over or babbling.

Diagnosis of infantile spasms

Diagnosis of infantile spasms is usually done by a pediatric neurologist – a doctor who specializes in the brain, spine and nervous system of children. The diagnostic process may include:

• Medical history and physical exam. The doctor will ask about your child's health history. They will also perform a neurological exam and a physical assessment of their reflexes, coordination and certain abilities.
• Blood and urine tests. These tests can detect certain diseases or infections.
• Spasm journal. The doctor may ask you to keep track of your child's spasms to learn how often they occur, when they occur and what they look like.
• Electroencephalogram (EEG). This test records electrical activity in the brain. It can detect hypsarrhythmia, an abnormal brain wave pattern common to certain epilepsy conditions seen in early childhood.
• Magnetic resonance imaging (MRI). By providing detailed images of the brain, this test can help doctors identify any structural abnormalities that may be causing infantile spasms.

Treatment of infantile spasms

Treatment for infantile spasms depends on the underlying cause of the seizures. For some children, medication works; some may be helped by a special diet; while others may need surgery to control their seizures. Early treatment with the most effective therapies is essential for minimizing the long-term consequences of the spasms.

Medications for infantile spasms

The first line of treatment is typically anti-seizure medications, including:

• Steroids. Drugs classified as steroids – such as prednisone, prednisolone or adrenocorticotropic hormone (ACTH) – may be given by mouth or by injection. While steroids can often treat early-onset cases of infantile spasms effectively, they can have serious side effects.
• Anti-seizure medications. Vigabatrin (Sabril), an oral treatment, is an effective option for children whose spasms are the result of tuberous sclerosis complex. It's generally only used after other forms of treatment have failed because vision loss is a possible side effect.
• Other medications. If neither steroids nor vigabatrin controls the spasms, other anti-seizure medications may be used. Options include valproate, topiramate, pyridoxine, zonisamide, clobazam and clonazepam. However, these medications are generally less effective, so they aren't typically the first treatment choice.
• Combination therapy. Studies are underway to test treating infantile spasms by combining various steroids (including ACTH) with vigabatrin or other anti-seizure medications. Researchers are hoping that this kind of approach will improve long-term developmental outcomes.

If your child is on a medicine-based treatment for infantile spasms and it doesn't seem to be working, please see a pediatric epilepsy specialist as soon as possible. They can help you figure out a better treatment plan moving forward.

Surgery for infantile spasms

Surgery may be the best treatment option for children whose seizures occur in a specific area of the brain and have a distinct effect, such as when the infant turns their head or their eyes to one side and back. In children with these types of spasms, EEGs are less likely to show the pattern of brain electrical activity typically associated with infantile spasms.

Ketogenic diet for infantile spasms

The ketogenic diet prescribed for epilepsy – which is high in fat and very low in carbohydrates – has been reported to be a safe, easy-to-manage feeding plan that may work to treat babies with infantile spasms when ACTH, other steroids and vigabatrin have failed to help.