Questionnaire Survey of Seizures and Medical Treatment on Patients Group with Dravet Syndrome in Japan
Abstract number :
1.236
Submission category :
4. Clinical Epilepsy / 4C. Clinical Treatments
Year :
2018
Submission ID :
501134
Source :
www.aesnet.org
Presentation date :
12/1/2018 6:00:00 PM
Published date :
Nov 5, 2018, 18:00 PM
Authors :
Katsumi Imai, Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders; Hiroko Ikeda, National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders; Hitoshi Ikeda, Epilepsy Center, NHO Shizuoka Institute of
Rationale: Epilepsy in Dravet syndrome (DravetS) is still refractory in spite of development of new drugs. To improve medical treatment of DravetS in Japan, we conducted a questionnaire survey investigating the seizure and medical condition on DravetS patients. Methods: Survey was performed by mail (N=80) or web (N=110) to families of Dravet syndrome on Feb 2018. We received 135 responses and analyzed valid 130 ones. This study protocol was approved by the ethical committee of National Epilepsy Center (Shizuoka, Japan). Results: Most of responses were under 20y old. Abnormality in SCN1a gene was observed in >70% over 3y old, but 50% under 3y old. The result of SCN1a gene analysis didn’t affect seizure occurrence of absence, myoclonic, and convulsive seizures. Convulsive status epilepticus decreased in >=4y old, and became rare in >=13y old. Absence seizure and photic/pattern induced seizures also decreased in >=13y old. Intellectual disability was mild or absent in <4y old, but became severe in >=13y old. Almost half of the patients felt the tendency of autistic spectrum disorders. Acute encephalitis/encephalopathy was rare in <4y old, but increased between 4-12 y old. VPA, STP, TPM were most effective and most used drugs for convulsive, absence and myoclonic seizures. Benzodiazepines (BZPs) were effective in many, but showed seizure exacerbation in the other 10-20 % patients. Pattern induced seizures were most refractory, with some effective patients by BZPs. CBZ and LTG showed aggravation in almost all types of seizures. CBZ was still one of most frequently used drugs as the first drug in Japan. Conclusions: Less adult patients in this survey suggest underdiagnosis of DravetS in adults. Low SCN1a positive rates suggest possible false positive clinical diagnosis of DravetS in infants. Enlightenment to avoid CBZ in the early stages of illness must be much more encouraged in Japan. Funding: This research was supported by Japan Dravet Family Meeting Group and funded by Ministry of Health, Labor and Welfare, Japan.