Researchers have launched an online registry that ultimately aims to help children with a severe type of epilepsy that strikes in the first months of life.
It is believed to be the first worldwide registry of children with infantile spasms and is a collaboration between Washington University School of Medicine in St. Louis and the University of Chicago.
Researchers plan to use the registry to look for similarities among children with the disorder to help lead to improved treatments, said Alexander Paciorkowski, M.D., instructor of neurology and medical geneticist at the School of Medicine and a staff physician at St. Louis Children’s Hospital.
Although the condition was first described in the 1840s, physicians and researchers still have many questions about possible causes and effective treatments.
“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. “We believe that the data from this registry and genetic studies will help answer some of those questions.”
Infantile spasms, or West Syndrome, is a seizure disorder that begins before age 2 and accounts for about 25 percent of epilepsy diagnoses in babies under 12 months old. An infant’s body will suddenly bend forward, 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. The spasms can have a devastating impact on the baby’s development, causing difficulty learning how to sit, crawl, walk and talk. The spasms are often replaced with another seizure disorder as children age. Physicians say early diagnosis and treatment provide for the best outcomes.
Paciorkowski developed the registry, at infantilespasms.wustl.edu, with Christina Gurnett, M.D., Ph.D., assistant professor of neurology, of pediatrics and of orthopedic surgery at the School of Medicine; Liu Lin Thio, M.D., Ph.D., assistant professor of neurology, of pediatrics and of anatomy and neurobiology at the School of Medicine and director of the Pediatric Epilepsy Center at St. Louis Children’s Hospital; and William B. Dobyns, M.D., professor of human genetics, of neurology and of pediatrics at the University of Chicago Medical Center.
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.
“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.”
The traditional treatment for infantile spasms is an injected hormone called adrenocorticotropic hormone (ACTH), which has the potential for serious side effects, such as high blood pressure, infections, bleeding, weight gain, irritability and problems sleeping. Treatments also can include other anti-seizure medications or a medically supervised high-fat, low-carbohydrate diet, known as a ketogenic diet.
Parents of children who were diagnosed with infantile spasms prior to age 2 may register their child at no cost. Before entering the registry, 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.
Paciorkowski has taken a keen interest in infantile spasms since he was a medical student in the late 1990s and admitted a patient with the disorder.
“I remember the conversations with the neurologists about treatment because we weren’t sure which medicines would be helpful,” Paciorkowski said. “Fast forward to now, when we admit a child with infantile spasms to St. Louis Children’s Hospital, we can review the literature about treatments, but I’m amazed at the number of questions still unanswered.”
Paciorkowski said this registry is different from other studies because it gets parents and their children’s physicians involved.
“Parents often have very detailed information about their child’s history and health,” he said. “We have made the registry very parent-friendly and parent-focused.”
For more information on the registry or the genetic studies, contact Paciorkowski at email@example.com or (314) 454-6120.
Washington University School of Medicine’s 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children’s hospitals. The School of Medicine is one of the leading medical research, teaching and patient care institutions in the nation, currently ranked third in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children’s hospitals, the School of Medicine is linked to BJC HealthCare.
Funding for this project is provided in part from the National Institutes of Health K12 Neurological Sciences Academic Development Award.