Utility of the screening test for early diagnosis of Dravet syndrome
Abstract number :
1.167
Submission category :
4. Clinical Epilepsy / 4B. Clinical Diagnosis
Year :
2016
Submission ID :
192198
Source :
www.aesnet.org
Presentation date :
12/3/2016 12:00:00 AM
Published date :
Nov 21, 2016, 18:00 PM
Authors :
Mari Akiyama, Okayama University Hospital; Tomoyuki Akiyama, Okayama University Hospital; Harumi Yoshinaga, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences; and Katsuhiro Kobayashi, Okayama University Graduate School
Rationale: Dravet syndrome (DS) is a severe type of epilepsy in which the initial symptoms are often febrile seizures (FS). It is not easy to distinguish DS from FS or other epileptic syndromes during infancy. Hattori et al. (Epilepsia, 2008;49:626-633) proposed a screening test for the early diagnosis of DS using clinical findings from patients who were less than one year old. We aim to verify the utility of this screening test based on a new set of patients. Methods: There were 38 patients enrolled into the study (13 with a final diagnosis of DS and 25 with non-DS including 9 with simple FS, 13 with complex FS and 3 with FS plus [FS+]), who visited Okayama University Hospital from 2008 to 2015 and had FS before 12 months of age. Their clinical findings were retrospectively reviewed to determine if a total clinical score ?- 6 was statistically related to the subsequent diagnosis of DS, using the Mann-Whitney U test. Results: The onset age of FS ranged from 2 to 8 months in DS and 6 to 11 months in non-DS patients. SCN1A mutations were detected in 11 DS patients and 1 non-DS. The total clinical scores ranged from 8 to 14 points (median, 13) in the DS patients and 0 to 9 points (median, 0) in the non-DS patients, which was a statistically significant difference (p < 0.0001). However, there were some patients who had intermediate disease severity or total clinical scores. Two of these non-DS patients had total clinical sores of 8 and 9 with a relatively high risk of DS, and they had rather mild clinical courses with the diagnosis of complex FS and FS+, respectively. However, the other two FS+ patients had a total clinical score of = 3. Conclusions: The screening test had a sensitivity of 100% and a specificity of 92% in the present study, and therefore we confirmed that the test is useful for the early diagnosis of DS. There were a few borderline patients for both clinical course and total clinical score on the screening test. These patients were categorized into the "genetic epilepsy with FS+ spectrum". Funding: No funding.
Clinical Epilepsy