Diagnosing and Finding the Cause of Infantile Spasms
Describing Spasms
Spasms are sudden, uncontrolled movements of the neck, body, and arms and legs that last for only a few seconds.
You may see the following:
- Repetitive forward head nodding or bobbing
- Bowing from their waist when sitting
- Drawing up their knees when lying down
- Extending or stiffening of the neck, trunk, arms, and legs
- Crossing arms across body as if self-hugging
- Thrusting arms to the side, elbows bent
Spasms are most common during the early morning or when your child wakes up from naps. Often, spasms are mistaken for colic. Colic frequently begins at the same time each day. Children with colic will cry, tend to lift their legs repeatedly with their hands clenched, and may have a swollen stomach.
Often, spasms happen one right after the other, in clusters, that may last from less than 1 minute to more than 10 minutes. The number of spasms can be as few as 2 to more than 100.
Spasms can be hard to recognize because the way spasms look may be different in each child. For example, one child may show all of the above description of spasms and another may only show a simple nodding of the head.
Click here to see examples of what spasms may look like.
Diagnosing IS
The first step to diagnosing your child is to see your pediatrician right away. After you talk with your pediatrician about your child’s spasms, your pediatrician will most likely send you to a pediatric neurologist or child neurologist—a doctor who has special training in diagnosing and treating IS.
IS is usually diagnosed in two ways:
When making the diagnosis, your doctor will get a complete medical history and will want you to describe your child’s spasms. Some parents and caregivers find it helpful to take a video of the child’s spasms and record how often they happen in a journal as soon as they begin. Your doctor or nurse may find this information helpful when making the diagnosis and during treatment.
Your doctor may perform an EEG to determine if your child has hypsarrhythmia. An EEG (short for electroencephalogram) is a test of brain activity. Children with IS typically have EEGs that show hypsarrhythmia, a chaotic pattern of brain waves.
How Could IS Affect My Child?
Children with IS are at risk of having slow development. They may not learn to sit up, crawl, or reach other important milestones like other children. Some children can have long-term learning problems. Several clinical studies show treating IS early may help your child’s development. It is important to find the most effective treatment for your child as quickly as possible.
What Causes IS?
Once infantile spasms is diagnosed, your doctor may run several more tests to try to find out the cause of your child’s IS. In about 30% of children, no cause for IS can be found. In the other 70%, infantile spasms is caused by an underlying disease or injury to the brain.
Causes could be:
- Central nervous system infection (for example, herpes simplex virus, meningitis, encephalitis)
- Abnormal brain development or injury
- Neurological disorders with skin lesions (for example, tuberous sclerosis, neurofibromatosis)
- Genetic abnormalities (for example, Down syndrome, Miller-Dieker syndrome)
- Metabolic disorders (for example, mitochondrial diseases, phenylketonuria, hypoglycemia)
No matter what the cause is, it is important to find and treat IS as quickly and effectively as possible.