Infantile spasms are seizures commonly associated with West syndrome—a severe infantile epileptic encephalopathy often accompanied by poor developmental outcomes. Babies with infantile spasms have epilepsy. There are three cases of infantile spasms per 10,000 live births in the U.S. each year. Greater than 90 percent of these seizures begin between 3 and 12 months of age with peak onset at 6 months. Although they often involve sudden vigorous muscle contractions of the neck, arms, legs and trunk, they can also present as mild contractions of the abdominal muscles or subtle movements of the eyes, head or shoulders. The clustering of these seizures is often the key to diagnosis. Infantile spasms results from a brain abnormality with many different associated conditions that can be structural, metabolic, genetic or of unknown cause. It is not known how such varied conditions lead to infantile spasms.
An integral part of our Level-Four Epilepsy Center, the Infantile Spasms Clinic at Nationwide Children’s Hospital is a multidisciplinary team consisting of a pediatric neurologist, nurse practitioner, social worker, developmental psychologist and registered nurses. The team works closely with other services such as Endocrinology, Cardiology, Nephrology and Ophthalmology. We have established a standardized management protocol for the diagnosis, treatment and follow-up of infantile spams that is consistent with best available evidence and national expert recommendations. The protocol emphasizes the rapid diagnosis and treatment of infantile spasms, the use of first-line therapy and early changes if the initial treatment is deemed ineffective.
When it comes to making a timely diagnosis of infantile spasms, caregivers and primary care physicians play a critical role. Sudden onset jerks that can repeat in a series (“cluster”) often cause caregivers to pursue a medical evaluation. Clinicians should consider infantile spasms in any infant with spells, especially if they cluster. A home video of the spells can be very helpful. Your primary care physician may pursue an EEG (electroencephalogram, “brain wave test”) or an urgent neurological evaluation. This neurological evaluation may take place in the clinic or emergency room. If infantile spasms are suspected by the pediatric neurologist, an urgent EEG is performed to confirm the diagnosis. A longer EEG (one or more days) may be needed. If so, it will be performed during a hospital admission.
When infantile spasms are considered, Nationwide Children’s Hospital child neurologists will alert the infantile spasms team. This team, led by John Mytinger, MD, will help with early management. Someone from the team will come to meet you, provide you education about infantile spasms and review available treatments. A developmental specialist from the infantile spasms team will perform a developmental assessment. We will follow development closely over time. Our infantile spasms social worker will help you understand your child’s condition and assure that you have access to available resources.
Some treatments require a several day hospital admission whereas other treatments can be started at home. While medications are typically tried first, some children are best treated with brain surgery or the ketogenic diet. The goals of treatment are to:
Although we are not able to achieve these goals in all children, the infantile spasms team will do everything possible to improve your child’s developmental outcome and minimize seizures.
If the chosen medication appears to be effective, we will obtain an EEG two to three weeks after the start of treatment. This initial EEG includes a minimum one hour of recording. Given the importance of capturing sleep, your child should not sleep on the way to the EEG. You may need to adjust your child’s schedule (wake him or her up earlier for example) in order to assure that sleep is obtained. If this EEG appears to be improved, then we typically pursue an overnight EEG to assure that the EEG is persistently improved and that there are no subtle infantile spasms. On the other hand, if the chosen medication does not stop the spasms or does not improve the EEG, then a new treatment will be necessary.
The Neurosciences Center at Nationwide Children’s Hospital accepts referrals from primary care providers and specialists from across the U.S. and internationally. To make a referral, there are three options: