Incidence of Rare Epilepsies in New York City
Abstract number :
1.404
Submission category :
16. Epidemiology
Year :
2022
Submission ID :
2205078
Source :
www.aesnet.org
Presentation date :
12/3/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:27 AM
Authors :
Kristen Barbour, MD – Weill Cornell Medicine; Elissa Yozawitz, MD – Montefiore Medical Center, Albert Einstein College of Medicine; Steven Wolf, MD – Boston Children’s Health Physicians and New York Medical College; Patricia McGoldrick, NP – Boston Children’s Health Physicians and New York Medical College; Tristan Sands, MD, PhD – Columbia University; Aaron Nelson, MD – NYU Langone Health; Natasha Basma, MPH – Weill Cornell Medicine; Zachary Grinspan, MD, MS – Weill Cornell Medicine
Rationale: Rare epilepsies are a medically complex group of disorders often associated with refractory seizures and developmental disabilities. Administrative codes (i.e., ICD x) are lacking for most rare epilepsies, making them difficult to study using large clinical datasets. Epidemiologic estimates of incidence and prevalence are limited, sometimes to only counts worldwide. This study uses narrative text in electronic health records (EHRs) to identify cases of rare epilepsies and estimate incidence.
Methods: To estimate incidence, the current study used the RENYC dataset which includes clinical data from six hospitals in New York City (NYC) from 2010 - 2014. We searched text of clinical notes for disease-related keywords and validated cohorts with chart review (Barbour et al., 2021; AES). We obtained name, date of birth, and zip codes for cases. We measured cumulative incidences of rare epilepsies in Bronx and Manhattan (average number of cases in Bronx/Manhattan zip codes per year divided by annual live births). For comparison, we performed a review of literature evaluating incidence and childhood prevalence for rare epilepsies. Nine rare epilepsies had prior estimates in the last 20 years and replicated results in 2 or more studies. The remaining 12 rare epilepsies had limited prior estimates.
Results: Data included clinical notes from RENYC data from 77,924 patients, of which, 2,006 patients had a rare epilepsy. We estimated cumulative incidence for infantile spasms (1 in 3,100), Lennox-Gastaut syndrome (1 in 9,590), epilepsy associated with Tuberous Sclerosis (1 in 14,800), epilepsy associated with Rett syndrome (1 in 25,800), Dravet syndrome (1 in 30,500), epileptic encephalopathy with spike-and-wave activation in sleep/ ESES/ CSWS (1 in 33,000), epilepsy with myoclonic atonic seizures (1 in 34,100), epilepsy associated with Sturge-Weber (1 in 37,700), early infantile developmental and epileptic encephalopathy, EIDEE (1 in 39,000), epilepsy associated with Angelman syndrome (1 in 40,900), neuronal ceroid lipofuscinosis (1 in 46,200), epilepsy in infancy with migrating focal seizures, EIMFS (1 in 54,500), epilepsy associated with Aicardi syndrome (1 in 71,600), KCNQ2 related epilepsy (1 in 81,800), epilepsy associated with Prader Willi syndrome (1 in 89,500), glut1 deficiency (1 in 164,000), hypothalamic hamartoma (1 in 187,000), Alpers disease (1 in 286,000), Phelan-McDermid syndrome (1 in 286,000), Dup15q syndrome (1 in 375,000), and Rasmussen syndrome (1 in 375,000). We plotted incidence from our study compared to prior literature for each rare epilepsy (Figure 1).
Conclusions: A large clinical dataset from six hospitals in NYC was used to study the epidemiology of rare epilepsies. We provide estimates of cumulative incidence, including for 12 rare epilepsies with limited prior data. Hospital-based epidemiologic estimates may underestimate incidence compared to studies with multiple data sources. Work is ongoing to refine our estimates.
Funding: CDC
Epidemiology