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Current medico‐psycho‐social conditions of patients with West syndrome in Japan
Author(s) -
Yoshitomi Shinsaku,
Hamano Shinichiro,
Hayashi Masaharu,
Sakuma Hiroshi,
Hirose Shinichi,
Ishii Atsushi,
Honda Ryoko,
Ikeda Akio,
Imai Katsumi,
Jin Kazutaka,
Kada Akiko,
Kakita Akiyoshi,
Kato Mitsuhiro,
Kawai Kensuke,
Kawakami Tamihiro,
Kobayashi Katsuhiro,
Matsuishi Toyojiro,
Matsuo Takeshi,
Nabatame Shin,
Okamoto Nobuhiko,
Ito Susumu,
Okumura Akihisa,
Saito Akiko,
Shiraishi Hideaki,
Shirozu Hiroshi,
Saito Takashi,
Sugano Hidenori,
Takahashi Yukitoshi,
Yamamoto Hitoshi,
Fukuyama Tetsuhiro,
Kuki Ichiro,
Inoue Yushi
Publication year - 2021
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2021.1301
Subject(s) - west syndrome , etiology , pediatrics , medicine , cortical dysplasia , epilepsy , encephalopathy , abnormality , epileptic spasms , psychosocial , psychiatry
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.