Epileptic Disorders


Burden of seizures and comorbidities in patients with epilepsy: a survey based on the tertiary hospital-based Epilepsy Syndrome Registry in Japan Volume 24, issue 1, February 2022

1 (Japan Rare Epilepsy Syndrome Registry Group: JRESG) NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan
2 Division of Neurology, Saitama Children's Medical Center, Saitama, Japan
3 Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
4 Department of Pediatrics, School of Medicine, Fukuoka University, Japan
5 Department of Pediatrics, NHO Nagasaki Medical Center, Nagasaki, Japan
6 Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine, Kyoto, Japan
7 Department of Epileptology, Tohoku University Graduate School of Medicine, Sendai, Japan
8 Clinical Research Center, NHO Nagoya Medical Center, Nagoya, Japan
9 Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan
10 Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan
11 Department of Neurosurgery, Jichi Medical University, Tochigi, Japan
12 Department of Dermatology, Tohoku Medical and Pharmaceutical University, Sendai, Japan
13 Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
14 Research Centre for Children and Research Centre for Rett Syndrome, St Mary's Hospital, Kurume, Japan
15 Department of Neurosurgery, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
16 Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
17 Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan
18 Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan
19 Department of Pediatrics, Aichi Medical University, Aichi, Japan
20 Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan
21 Department of Functional Neurosurgery, NHO Nishiniigata Chuo Hospital, Niigata, Japan
22 Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
23 Department of Neurosurgery, Epilepsy Center, Juntendo University, Tokyo, Japan
24 Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan
25 Department of Pediatrics, School of Medicine, Shinshu University, Matsumoto, Japan
26 Department of Pediatric Neurology, Children's Medical Center, Osaka City General Hospital, Osaka, Japan
* Correspondence: Yushi Inoue NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Urushiyama 886, Aoi-ku, Shizuoka 420-8688, Japan

Objective. To examine the current medical and psychosocial status of patients with epilepsy, aiming to facilitate appropriate application of the Intractable/Rare Diseases Act of Japan.

Methods. By analysing the cross-sectional data of patients registered in the tertiary hospital-based Epilepsy Syndrome Registry of Japan, we investigated the proportion of patients who met the severity criteria as defined by the Act (seizure frequency of at least once a month, or presence of intellectual/neurological/psychiatric symptoms, or both) and whether there are candidate syndrome/diseases to be added to the existing list in the Act.

Results. In total, 2,209 patients were registered. After excluding self-limited/idiopathic epilepsies, 1,851 of 2,110 patients (87.7%) met the severity criteria. The patients were classified into eight main epilepsy syndromes (594 patients), 20 groups based on aetiology (1,078 patients), and three groups without known aetiology (427 patients). Most of the groups classified by syndrome or aetiology had high proportions of patients satisfying the severity criteria (>90%), but some groups had relatively low proportions (<80%) resulting from favourable outcome of surgical therapy. Several small groups with known syndrome/aetiology await detailed analysis based on a sufficiently large enough number of patients registered, some of whom may potentially be added to the list of the Act.

Significance. The registry provides data to examine the usefulness of the severity criteria and list of diseases that are operationally defined by the Act. Most epilepsy patients with various syndromes/diseases and aetiology groups are covered by the Act but some are not, and the list of designated syndromes/diseases should be complemented by further amendments, as suggested by future research.