Kennedy Krieger Research Update: The Hunter Nelson Sturge-Weber Center

April 15, 2009
New Insights into the Treatment of Patients with Sturge-Weber Syndrome

(Baltimore, Md) - Sturge-Weber Syndrome is a disease characterized by a facial birthmark, or "port wine stain," in association with abnormal blood vessels on the surface of the brain, glaucoma or both. Seizures, beginning often in infancy, are the most common symptom, followed by weakening or loss of the use of one side of the body (hemiparesis), vision impairments and delays in motor and cognitive skill development. The Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute is the only facility in the United States to provide the care of a multidisciplinary team of specialists to children with this rare and debilitating disease. Under the leadership of Dr. Anne Comi, the Center is conducting ongoing research into the disorder which will not only benefit children with Sturge-Weber Syndrome, but may also have applications for epilepsy and pediatric stroke.

Recently the Center released the results of two studies that provide new clues and insights into the treatment of Sturge-Weber Syndrome. Both of these studies will help clinicians more accurately measure and predict the outcomes of individuals with this disorder, and ultimately improve patient care.

The first study, published in the journal Epilepsia, confirmed what many clinicians have reported anecdotally: patients with Sturge-Weber Syndrome often have a unique "cluster" pattern of seizures. In the study, researchers examined 77 individuals with Sturge-Weber Syndrome over a 5-year period. They found 39 percent of them experienced the "cluster" pattern, or prolonged seizure-free periods followed by intense clusters of seizures.

This particular seizure pattern can make it difficult for clinicians and families to make treatment decisions. They may overestimate the effectiveness of anticonvulsant treatments, or assume a patient's seizures are being adequately controlled, because of the long seizure-free periods these patients naturally experience. The decision to pursue surgical treatment can be particularly hard for these families. Anticonvulsants are successful in approximately half of Sturge-Weber patients, but brain surgery, including hemispherectomy, can be successful for up to 81 percent. The long seizure-free periods may persuade clinicians and families to postpone an inherently risky, but potentially more successful, surgical treatment. This study provides important context to families and patients struggling with these treatment decisions, and will help clinicians better evaluate treatment success.

The second study, published in the Journal of Child Neurology, investigated the relationship between adaptive skills and hemiparesis. Adaptive skills, or the skills that help individuals compensate for impairments and accomplish everyday tasks and communication, may serve as an important indicator of the overall disruption posed by Sturge-Weber Syndrome and its impact on day-to-day functioning. Patients with lower adaptive skills would benefit from more extensive neurological evaluation and intervention, but it's not always easy to assess a patient's adaptive skill level. A clinical feature that could signal a patient has a lower adaptive skill level would

help clinicians quickly identify Sturge-Weber Syndrome patients that have a high need for intervention.

Researchers at the Kennedy Krieger Institute hypothesized that one of the main symptoms of Sturge-Weber Syndrome, hemiparesis, could be a possible predictor of a child's adaptive skill level. Study participants were given neuropsychological and adaptive skill assessments as well as full neurological evaluations. The results confirmed that there is a relationship between hemiparesis and adaptive skill level. Hemiparesis was an important individual component of the rating scales that differentiated between individuals with non-impaired and impaired adaptive skills. The research suggests hemiparesis can be a useful "shorthand" method of identifying individuals with Sturge-Weber Syndrome who may be in need of additional intervention.

About the Kennedy Krieger Institute

Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 13,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit www.kennedykrieger.org.