Current medico-psycho-social conditions of patients with West syndrome in Japan

Shinsaku Yoshitomi, Shin Ichiro Hamano, Masaharu Hayashi, Hiroshi Sakuma, Shinichi Hirose, Atsushi Ishii, Ryoko Honda, Akio Ikeda, Katsumi Imai, Kazutaka Jin, Akiko Kada, Akiyoshi Kakita, Mitsuhiro Kato, Kensuke Kawai, Tamihiro Kawakami, Katsuhiro Kobayashi, Toyojiro Matsuishi, Takeshi Matsuo, Shin Nabatame, Nobuhiko OkamotoSusumu Ito, Akihisa Okumura, Akiko Saito, Hideaki Shiraishi, Hiroshi Shirozu, Takashi Saito, Hidenori Sugano, Yukitoshi Takahashi, Hitoshi Yamamoto, Tetsuhiro Fukuyama, Ichiro Kuki, Yushi Inoue

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)579-589
Number of pages11
JournalEpileptic Disorders
Volume23
Issue number4
DOIs
Publication statusPublished - Aug 1 2021
Externally publishedYes

Keywords

  • cross-sectional study
  • epileptic spasms ;infantile spasms
  • longitudinal study ;outcomes
  • rare epilepsy syndrome registry
  • West syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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