TY - JOUR
T1 - Current medico-psycho-social conditions of patients with West syndrome in Japan
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
PY - 2021/8/1
Y1 - 2021/8/1
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 - cross-sectional study
KW - epileptic spasms ;infantile spasms
KW - longitudinal study ;outcomes
KW - rare epilepsy syndrome registry
KW - West syndrome
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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 -