Many children with epilepsy just need to take certain medications to lead an entirely normal life. However, for some kids, the impact is much greater and occasionally limits development. As a pediatric neurologist, it is my job to recognize symptoms, make a diagnosis and determine the appropriate treatment for a child.
A particularly challenging diagnosis is a type of epilepsy called infantile spasms (IS), a relatively uncommon seizure disorder that occurs in young children, usually under 1 year of age. Approximately 2,500 infants are diagnosed with the condition each year. If left untreated, IS can impact the child’s future development. Because of this, it is important for parents to recognize the symptoms of IS as soon as possible and seek an appropriate evaluation and treatment.
Infantile spasms may be extremely subtle, appearing as a brief head bob or startle reflex. But generally they are more dramatic and cause the child to bend forward in a crunch motion. This latter type of spasm is called a flexor spasm. Spasms may occur as a single crunch, though more commonly the child has a cluster of spasms upon awakening in the morning or from a nap. Each spasm may be followed by the child crying out, which might cause the condition to be misdiagnosed as colic.
Because of the devastating effect IS has on a child’s neurological development, a delayed diagnosis or misdiagnosis of the condition can have dire consequences. Children with uncontrolled spasms may suffer impaired nervous system development. They may never attain normal developmental milestones, and they frequently regress from previously established milestones. Most children require medications to control the spasms, although some children stop seizing without medication. Early diagnosis and treatment improves the likelihood of eliminating spasms, which increases the child’s chances of achieving more normal development.
When a child is suspected of having infantile spasms, a physician performs an electroencephalogram (EEG) to confirm the diagnosis. If the child in fact has IS, the EEG likely reveals a characteristic abnormal brainwave pattern called hypsarrhythmia. This is a chaotic, random, high-voltage pattern that arises and spreads from multiple areas of the brain. Most patients will also have Magnetic Resonance Imaging (MRI) to evaluate the brain in more detail. Additional tests may be required to help determine any associated conditions.
Once a child has been diagnosed with IS, the primary treatment goal is to stop the child’s spasms. This gives the child the best opportunity for development. Determining the most appropriate therapy is complex and often dependent on identified associated conditions. For more than 50 years, the most common treatment has been steroid therapy administered either orally, such as prednisone, or injections of AdrenoCorticotrophic hormone (ACTHar gel). In spite of the fact that it has been one of the standard treatments, ACTH has not yet been approved by the Food and Drug Administration for this indication. Another type of medication, vigabatrin (Sabril), was approved in August 2009 as a first line therapy for IS. The choice of medication should be discussed among the parents and the treating physician.
Sometimes the underlying condition guides the choice of therapy. For example, one of the most common IS-associated conditions is tuberous sclerosis complex or TSC. This genetic condition is characterized by seizures and lesions of the skin and nervous system. Ten to 30 percent of IS cases are caused by TSC. In this particular condition, vigabatrin is considered to be the drug of choice. ACTH may be favored in other conditions.
Both ACTHar gel and vigabatrin have significant side effects. However, most child neurologists believe that the potential benefit of improved development generally outweighs the side effects of the treatments. This is obviously important for parents to discuss with the treating physician.
Again, if parents suspect their child has infantile spasms, they should seek immediate medical attention. It is my hope that, as more people become aware of IS, more children will be quickly diagnosed and promptly treated for this devastating condition.