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Use of the ketogenic diet to manage refractory epilepsy in CDKL 5 disorder: Experience of >100 patients
Author(s) -
Lim Zhan,
Wong Kingsley,
Olson Heather E.,
Bergin Ann M.,
Downs Jenny,
Leonard Helen
Publication year - 2017
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.13813
Subject(s) - ketogenic diet , epilepsy , pediatrics , rett syndrome , confidence interval , medicine , epileptic spasms , refractory (planetary science) , young adult , age of onset , psychiatry , disease , biology , biochemistry , astrobiology , gene
Summary Objective Pathogenic variants involving the CDKL 5 gene result in a severe epileptic encephalopathy, often later presenting with features similar to Rett syndrome. Cardinal features of epilepsy in the CDKL5 disorder include early onset at a median age of 6 weeks and poor response to antiepileptic drugs. The ketogenic diet ( KD ) was first introduced in the 1920s as a treatment option for refractory epilepsy in children. This study investigated use of the KD in the CDKL5 disorder and its influences on seizures. Methods The International CDKL 5 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 CDKL 5 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.