Despite the fact that epilepsy is the third most common brain disorder — affecting an estimated one percent of children — there’s still much we don’t know about this condition. In fact, in about 75 percent of cases, epilepsy has no known cause. Research is crucial to help physicians learn more about the roots of epilepsy in children and develop potential treatments for it.
“One third of our patients have treatment-refractory epilepsy. Unless we try to discover what causes an individual’s epilepsy, we can not take a personalized or precision approach to treatment. Parents should know that we’re not just accepting the status quo in epilepsy,” says Dr. Annapurna Poduri, a neurologist in the Epilepsy Center at Boston Children’s Hospital. “We’re continuing to investigate many different aspects of this disease, with the goal of improving patient care.” Here, Dr. Poduri shares four trends in epilepsy research and care, which families can learn more about at the upcoming Day of Science at Boston Children’s, presented by the CURE foundation.
A diagnosis of epilepsy can be challenging enough, but many children with this condition also have other disorders, which can have an impact on treatment and quality of life. Known as comorbidities, these diseases occur along with epilepsy. Some of the more common comorbidities in epilepsy include intellectual disabilities, motor impairments, migraines and psychiatric disorders such as anxiety and depression. If your child has comorbidities, they may affect their treatment choices: Some medications can have negative effects on mood and cognition, for example. Be sure to let your child’s epilepsy specialist know about any additional disorders, even if they seem unrelated.
Several types of epilepsy have a genetic component, which means they can be passed down through families. This area of research has been progressing at a rapid pace, and more patients are being considered for genetic testing. By testing for certain genes and identifying specific genetic mutations, clinicians can help families learn more about their condition. “A genetic diagnosis can aid in prognosis, improve awareness of comorbidities and, in some cases, inform treatment approaches for epilepsy,” explains Dr. Poduri.
Less-invasive treatment options
For children who don’t respond to medication or dietary changes — and who may not be candidates for surgery — a number of less-invasive or noninvasive devices are available. In an approach called vagus nerve stimulation (VNS), a small, pacemaker-like device is implanted under the skin near a child’s axilla (armpit). Small wires attached to the stimulator deliver small pulses of electricity to the vagus nerve, one of the major nerves running along the neck to the brain. While VNS doesn’t typically completely eliminate seizures, it may reduce their frequency and severity. Another approach, called transcranial magnetic stimulation (TMS), involves the placement of a magnet over a child’s head. This generates small electrical currents in the brain that reduce brain excitability. Many other non-invasive or minimally invasive treatments are under development and may be available to patients in the coming years.
Bench to bedside to bench
We know that laboratory research on epilepsy can have a major impact on clinical practice, with findings from scientific studies influencing or even changing the way physicians treat children with epilepsy — a concept known as “bench to bedside.” But patients can spur research endeavors, too. “Increasingly, we’re creating a cycle from bedside to bench, with clinically relevant questions guiding laboratory research,” says Dr. Poduri. “These findings are then translated back from bench to bedside in the form of clinical trials and studies of novel non-invasive technologies.” In other words, your child’s experience with epilepsy can help inform research that could one day produce new treatment approaches.
Learn more about the free Day of Science event at Boston Children’s on October 21, 2017.