McGovern Medical School

ian-butler

Dr. Ian Butler

A $1 million endowment on behalf of the West Syndrome Foundation has established the UTHealth Center of Excellence for West Syndrome Research and Distinguished Chair in West Syndrome Research at The University of Texas Health Science Center at Houston (UTHealth).

The center will focus on searching for the causes of, and developing new treatments for, West Syndrome and related pediatric epilepsy disorders, as well as increasing awareness and disseminating education about the disease.

“My colleagues in pediatric epilepsy and I are excited to be given the opportunity to establish a center devoted to clinical care and research for patients with infantile spasms. In addition to exemplary clinical management, the center will have an important role in increasing our understanding of this condition,” said Dr. Ian Butler, professor and director of the Division of Child and Adolescent Neurology in the Department of Pediatrics and holder of the first Distinguished Chair in West Syndrome Research.

“When my son was diagnosed in 2003 by Dr. Ian Butler, the outlook was devastating and bleak. Dr. Butler was extraordinarily empathetic and patient,” said Ruth Brewer, co-founder of the West Syndrome Foundation, of the Foundation’s decision to establish the center at UTHealth. “Where else would we go but right back to the only other person I know who understands the importance and the impact such a center could have not only on children diagnosed with West Syndrome, but children with an incredible variety of profound neurological disorders.”

West Syndrome is named for W.J. West, a surgeon who wrote a letter to the British journal Lancet in 1841 describing, in his words “a very rare and singular species of convulsions peculiar to young children.” West went on to describe the convulsions that his own infant son had developed.

West Syndrome, a disorder of the developing nervous system, is characterized by infantile spasms that result in clusters of flexion jerks of the body. The jerks generally last only one to two seconds and can be as mild as slight bobs of the head, which parents might mistake for simple startle reflexes. The onset occurs typically when the child is 4 to 8 months old.

“These clusters of spasms are like a hurricane that comes in and stirs everything up and goes away, but leaves damage,” said Butler, the Adriana Blood Professor of Pediatrics and co-director of the center.

Diagnostic testing at Children’s Memorial Hermann Hospital includes a detailed metabolic workup, spinal tap, and high-resolution imaging to look for structural defects. In particular, neurologists will look for a specific pattern on electroencephalography (EEG) called hypsarrhythmia, or chaotic brain waves. Physicians also will ask whether there was an intrauterine infection, perinatal trauma, or hypoxia, because these conditions may cause the syndrome. Children diagnosed with tuberous sclerosis often suffer from infantile spasms.

Treatments include correcting metabolic deficiencies in vitamins such as folic acid, corticosteroids, antiepileptic medications, and, in the case of brain lesions, surgery.

“The sooner the diagnosis workup is done, the sooner treatment is started and the sooner we can stop the developmental decline,” said Dr. Gretchen Von Allmen, co-director of the center and assistant professor of pediatric neurology. “We are hoping that having a place that specializes in the cause, diagnosis, and treatment of West Syndrome will improve outcomes.”

Von Allmen is chief of pediatric epilepsy for the Texas Comprehensive Epilepsy Program at the Mischer Neuroscience Institute and medical director of the Children’s Memorial Hermann Hospital Pediatric Epilepsy Monitoring Unit.

Von Allmen is a member of the Epilepsy Phenome/Genome Project that was established by the National Institute of Neurologic Disorders and Stroke. She was a co-author on a study identifying de novo genetic mutations linked to epileptic encephalopathy, which was published in the Sept. 12 issue of the journal Nature.

“The newest research is in the genetics. We are hopeful that if we understand the pathway, we can use it to treat the syndrome,” Butler said. “It would also allow us to do neonatal screening so that we could begin treatment earlier, before the symptoms begin.”

-Deborah Mann Lake, Office of Public Affairs, Media Relations

December 19, 2013