Online registry will track form of epilepsy

Infantile spasms, a severe form of epilepsy that strikes in infancy was first diagnosed in the 1840s, but doctors still have a lot they don't know about the neurological disorder.

So the Washington University School of Medicine, in St. Louis, and the University of Chicago are starting an online registry through which parents of children with infantile spasms can provide information about the disease that could help researchers learn more about what cause it and how to treat it.

Its creators believe this is the world's first online registry for infantile spasms, which is also known as West syndrome.

Infantile spasms is a seizure disorder that begins before age 2. The disorder accounts for about 25 percent of epilepsy diagnoses in babies under 12 months old.

In a West syndrome episode, the infant's body will suddenly bend forward in a movement resembling sit-ups. The infant may bend his or her arms and legs inward or throw them outward. The seizures occur often upon waking and may occur in clusters of up to 100 spasms at a time.

Infantile spasms can cause a number of motor and developmental problems as the afflicted infant ages and can lead to other type of seizure disorders.

Dr. Alexander Paciorkowski, instructor of neurology and medical genetics at the Washington University School of Medicine and a staff physician at St. Louis Children's Hospital, and his colleagues set up the online registry in a bid to gain answers to a number of questions regarding infantile spasms.

"We need to learn more about infantile spasms, such as why some babies respond well to an injected hormone treatment and others don't, which medications are most effective in stopping spasms, what tests can help doctors decide which medication to use first and why some babies with Down syndrome develop infantile spasms and some do not," Paciorkowski said.

The traditional treatment for infantile spasms is injections of hormones such as prednisone or the adrenocorticotropic hormone, although doctors aren't sure how the control the seizures.

ACTH and prednisone, however, sometimes causes serious side effects, such as high blood pressure, infections, bleeding, weight gain, irritability and problems sleeping.

Other West syndrome treatments can include other anti-seizure medications or a medically supervised high-fat, low-carbohydrate diet, known as a ketogenic diet.

In addition to collecting data through the registry, the researchers plan to ask parents to volunteer DNA samples from their children with the disorder to look for genes that might be playing a role in infantile spasms.

"Currently, we know about a few genes, but there are probably more," Paciorkowski said. "If we are able to identify the genes that cause infantile spasms, we hope to develop better medicines to help stop them."

Parents of children who were diagnosed with infantile spasms prior to age 2 may register their child at no cost..

Before entering the registry, however, children also should have had some previous studies, such as a video EEG and a brain MRI.

Once registered, parents will complete several questionnaires about the child's birth, medical and seizure history, family medical history, hospitalizations and development. The child's referring physician will also be asked to complete several questionnaires about the child's medical history and information specific to the diagnosis.