Abstract | OBJECTIVE: METHODS: The International CDKL5 Disorder Database, established in 2012, collects information on individuals with the CDKL5 disorder. Families have provided information regarding seizure characteristics, use, and side effects of the KD treatment. Descriptive statistics and time to event analyses were performed. Clinical vignettes were also provided on patients attending Boston Children's Hospital. RESULTS: Data regarding KD use were available for 204 individuals with a pathogenic CDKL5 variant. Median age of inclusion in the database was 4.8 years (range = 0.3-33.9 years), with median age of 6 weeks (range = 1 day-65 weeks) at seizure onset. History of KD use was reported for 51% (104 of 204) of individuals, with a median duration of use of 17 months (95% confidence interval = 9-24). Changes in seizure activity after commencing KD were reported for two-thirds (69 of 104), with improvements in 88% (61 of 69). Nearly one-third (31.7%) experienced side effects during the diet. At ascertainment, only one-third (32%) remained on the diet, with lack of long-term efficacy as the main reason for diet cessation (51%, 36 of 70). SIGNIFICANCE: Benefits of KD in the CDKL5 disorder are in keeping with previous trials on refractory epilepsies. However, poor long-term efficacy remains as a significant barrier. In view of its side effect profile, KD administration should be supervised by a pediatric neurologist and specialist dietician.
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Authors | Zhan Lim, Kingsley Wong, Heather E Olson, Ann M Bergin, Jenny Downs, Helen Leonard |
Journal | Epilepsia
(Epilepsia)
Vol. 58
Issue 8
Pg. 1415-1422
(08 2017)
ISSN: 1528-1167 [Electronic] United States |
PMID | 28605011
(Publication Type: Journal Article)
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Copyright | Wiley Periodicals, Inc. © 2017 International League Against Epilepsy. |
Topics |
- Adolescent
- Adult
- Child
- Child, Preschool
- Diet, Ketogenic
(methods)
- Drug Resistant Epilepsy
(diet therapy, etiology)
- Epileptic Syndromes
- Female
- Follow-Up Studies
- Humans
- Infant
- Male
- ROC Curve
- Retrospective Studies
- Rett Syndrome
(complications, diet therapy, genetics)
- Spasms, Infantile
(complications, diet therapy, genetics)
- Treatment Outcome
- Young Adult
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