NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan
Division of Neurology, Saitama Children's Medical Center, Saitama, Japan
Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan
Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
Department of Pediatrics, NHO Nagasaki Medical Center, Nagasaki, Japan
Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine, Kyoto, Japan
Department of Epileptology, Tohoku University Graduate School of Medicine, Sendai, Japan
Clinical Research Center, NHO Nagoya Medical Center, Nagoya, Japan
Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan
Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan
Department of Neurosurgery, Jichi Medical University, Tochigi, Japan
Department of Dermatology, Tohoku Medical and Pharmaceutical University, Sendai, Japan
Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
Research Centre for Children and Research Centre for Rett Syndrome, St Mary's Hospital, Kurume, Japan
Department of Neurosurgery, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan
Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan
Department of Pediatrics, Aichi Medical University, Aichi, Japan
Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan
Department of Functional Neurosurgery, NHO Nishiniigata Chuo Hospital, Niigata, Japan
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
Department of Neurosurgery, Epilepsy Center, Juntendo University, Tokyo, Japan
Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan
Department of Pediatrics, School of Medicine, Shinshu University, Matsumoto, Japan
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,
Aoi-ku, Shizuoka 420-8688, Japan
Objective. To unveil current medical and psychosocial conditions of patients with West syndrome in Japan.
Methods. A cross-sectional analysis was performed in patients with West syndrome registered in the Rare Epilepsy Syndrome Registry (RES-R) of Japan. Furthermore, new-onset patients registered in the RES-R were observed prospectively and their outcomes after one and two years of follow-up were compared with data at onset.
Results. For the cross-sectional study, 303 patients with West syndrome were included. Seizures (such as spasms, tonic seizures and focal seizures) occurred daily in 69.3% of the patients at registration. Seizure frequency of less than one per year was observed in cases of unknown etiology (22.6%), genetic etiology (23.8%) and malformation of cortical development (MCD; 19.1%). Neurological findings were absent in 37.0%, but a high rate of abnormality was seen in patients with Aicardi syndrome, hypoxic-ischemic encephalopathy (HIE), genetic etiology and MCD other than focal cortical dysplasia, accompanied by a >50% rate of bedridden patients. Abnormal EEG was found in 96.7%, and CT/MRI was abnormal in 62.7%. Treatments included antiepileptic drug therapy (94.3%), hormonal therapy (72.6%), diet therapy (8.3%) and surgery (15.8%). Intellectual/developmental delay was present in 88.4%, and was more severe in patients with Aicardi syndrome, genetic etiology and HIE. Autism spectrum disorder was found in 13.5%. For the longitudinal study, 27 new-onset West syndrome patients were included. The follow-up study revealed improved seizure status after two years in 66.7%, but worsened developmental status in 55.6%, with overall improvement in 51.9%.
Significance. The study reveals the challenging neurological, physical and developmental aspects, as well as intractable seizures, in patients with West syndrome. More than a half of the children showed developmental delay after onset, even though seizures were reduced during the course of the disease.