Epidemiological Data for Rare Epilepsy Cases
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November 2016 Affiliated with Columbia University Medical Center and Weill Cornell Medicine
In Search of Epidemiological Data for Rare Epilepsy Cases

The rare epilepsies are a diverse group of disorders with devastating medical, neurologic and psychiatric comorbidities. Onset generally occurs in childhood, and although some affected people eventually become self-sufficient, most are dependent on caregivers throughout their lifetime. More than a hundred disorders can be categorized as a rare epilepsy. However, accurate epidemiological estimates for most of these diseases are lacking.

Researchers believe that a better understanding of the epidemiology of rare epilepsies can help guide clinical diagnosis, encourage funding for research and development, and connect patients and caregivers with relevant advocacy groups. But as explained by Zachary Grinspan, MD, MS, a Pediatric Neurologist at NewYork-Presbyterian Hospital/Phyllis and David Komansky Center for Children's Health at Weill Cornell Medical Center, in New York City, the task of finding these cases is daunting. Dr. Grinspan also is an Assistant Professor at Weill Cornell Medicine in both Healthcare Policy & Research and Pediatrics.

"It's impossible to find these children using the current electronic health record [EHR] system because we don't have specific billing codes for these diseases," he said. "If you have a very specific billing code, you can easily search a database to find affected individuals. But the epilepsy codes are very vague. So you may find someone with epilepsy in a general sense, but there's no way to find children with specific rare diseases, like Doose syndrome or Aicardi syndrome."

Dr. Grinspan's idea is to gather the text from physicians' notes, and search for the names of rare diseases directly. However, there is often confusion and disagreement about how to define the diseases, even among experts in the field.

First, Create a Compendium of Terms

"There is a disconnect between the names and concepts that we talk about at conferences, write about in textbooks and use to talk to each other as clinicians, versus what we see in patients in the clinic. What one doctor calls 'SCN1A-related epilepsy,' another might call 'Dravet syndrome,'" Dr. Grinspan said. "On an individual level, that's OK, because you tailor treatment to individual patients," he added. But in order to study these diseases carefully, "we really do need to be speaking the same language."

In order to search for the names of rare epilepsies in physicians' notes, Dr. Grinspan will first catalog the language variations that people use to talk about them. He and his co-investigators are surveying a variety of sources-pediatric neurologists, patients, caregivers and advocacy groups-to create a compendium of synonyms used to describe rare epilepsies. They will then use those terms to scan a large clinical database of EHRs to define the incidence, prevalence, comorbidities and mortality of rare epilepsies.

Dr. Grinspan's work will be performed in collaboration with the funder, the Centers for Disease Control and Prevention, which is interested in obtaining epidemiological data on rare epilepsies. Dr. Grinspan's proposal was accepted in the summer of 2015 and was the only proposal to receive funding during that round. As such, his group will be exploring uncharted territory. "This is a novel approach to epidemiology, particularly for epilepsy research," he said.

Second, Dive Deep into Data

A major challenge, he noted, is to find and gather all the relevant clinical data from across New York City. This process will be made possible by the New York City Clinical Data Research Network (NYC-CDRN). The NYC-CDRN contains de-identified EHRs for all patients from multiple institutions in New York City, including NewYork-Presbyterian Hospital, Weill Cornell Medicine, and Columbia University College of Physicians and Surgeons; New York University School of Medicine; the Icahn School of Medicine at Mount Sinai; Clinical Directors Network; and Montefiore Medical Center.

"It's a really innovative piece of technology that allows us to simultaneously reach into the EHRs of all five health systems, and gather that data into a secure research database here at Weill Cornell Medicine," Dr. Grinspan explained.

To search the NYC-CDRN, Dr. Grinspan and his co-investigators will use "regular expressions"-that is, plain-text parameters that can be used to search large volumes of text-based on the words and phrases in their compendium of rare epilepsy synonyms. They plan to publish this catalog in an effort to help identify more patients with rare epilepsies.

"Our dream is that our colleagues across the country can use these specifications to find patients with rare epilepsies in their own health systems."

Dr. Grinspan credits his multidisciplinary team of co-investigators for their contributions to the diverse aspects of this project, which include medical informatics, computer science, public health and clinical medicine.

"I have wonderful, dedicated, clinical and research collaborators, all helping with the effort," Dr. Grinspan said, adding, "It's very easy to do multidisciplinary work here at New-York-Presbyterian/Komansky Center because of the very warm, collaborative environment that's encouraged at the highest levels."

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