TY - JOUR
T1 - Current medico-psycho-social conditions of patients with West syndrome in Japan
AU - Japan Rare Epilepsy Syndrome Registry Group: JRESG
AU - Yoshitomi, Shinsaku
AU - Hamano, Shin ichiro
AU - Hayashi, Masaharu
AU - Sakuma, Hiroshi
AU - Hirose, Shinichi
AU - Ishii, Atsushi
AU - Honda, Ryoko
AU - Ikeda, Akio
AU - Imai, Katsumi
AU - Jin, Kazutaka
AU - Kada, Akiko
AU - Kakita, Akiyoshi
AU - Kato, Mitsuhiro
AU - Kawai, Kensuke
AU - Kawakami, Tamihiro
AU - Kobayashi, Katsuhiro
AU - Matsuishi, Toyojiro
AU - Matsuo, Takeshi
AU - Nabatame, Shin
AU - Okamoto, Nobuhiko
AU - Ito, Susumu
AU - Okumura, Akihisa
AU - Saito, Akiko
AU - Shiraishi, Hideaki
AU - Shirozu, Hiroshi
AU - Saito, Takashi
AU - Sugano, Hidenori
AU - Takahashi, Yukitoshi
AU - Yamamoto, Hitoshi
AU - Fukuyama, Tetsuhiro
AU - Kuki, Ichiro
AU - Inoue, Yushi
N1 - Funding Information:
This study was supported by Health and Labour Sciences Research Grants on Rare and Intractable Diseases from the Ministry of Health, Labour and Welfare, Japan (H26‐ nanchitou‐ippan‐051, H29‐ nanchitou‐ippan‐010 and JPMH20FC1039).
Funding Information:
We thank the patients and their parents/caregivers who participated in the study, and the physicians and ancillary medical staffs who helped register the patients. We also thank Drs. Otsuki T and Sugai K (National Center of Neurology and Psychiatry, Tokyo), Oguni H (Tokyo Women's Medical University, Tokyo), Nakasato N (Tohoku University Graduate School of Medicine, Sendai), Nagai T, Sakai N (Osaka University Graduate School of Medicine, Osaka), Baba H (NHO Nagasaki Medical Center, Nagasaki), Watanabe E, Oguro K (Jichi Medical University, Tochigi), Ikeda H, Ikeda H, and Usui N (NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka) for their collaboration with the RES-R. This study was supported by Health and Labour Sciences Research Grants on Rare and Intractable Diseases from the Ministry of Health, Labour and Welfare, Japan (H26- nanchitou-ippan-051, H29- nanchitou-ippan-010 and JPMH20FC1039). Hamano S received travel or speaker honoraria from Eisai Co., UCB Japan Co., Daiichi Sankyo Co.; Kawai K received honoraria from Daiichi Sankyo Co., Otsuka Pharma Co., UCB Japan Co., Eisai Co.; The department of Ikeda A is the Industry-Academia Collaboration Course, supported by a grant from Eisai Co., Nihon Kohden Co., Otsuka Pharma Co., and UCB Japan Co. None of the remaining authors have any potential conflicts of interest relevant to this article to disclose.
Publisher Copyright:
© 2021 Epileptic Disorders
PY - 2021/8
Y1 - 2021/8
N2 - 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.
AB - 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.
KW - West syndrome
KW - cross-sectional study
KW - epileptic spasms
KW - infantile spasms
KW - longitudinal study
KW - outcomes
KW - rare epilepsy syndrome registry
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UR - http://www.scopus.com/inward/citedby.url?scp=85113716919&partnerID=8YFLogxK
U2 - 10.1684/epd.2021.1301
DO - 10.1684/epd.2021.1301
M3 - Article
C2 - 34269179
AN - SCOPUS:85113716919
SN - 1294-9361
VL - 23
SP - 579
EP - 589
JO - Epileptic Disorders
JF - Epileptic Disorders
IS - 4
ER -