AUTHOR=Wang Jun , Zhang Jie , Yang Ying , Gao Kai , Wu Ye , Zhang Yuehua , Jiang Yuwu 

TITLE=Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.842666

DOI=10.3389/fped.2022.842666

ISSN=2296-2360

ABSTRACT=<sec><title>Objective</title><p>The aim of this study was to evaluate the efficacy of the ketogenic diet (KD) for infantile spasms (IS) in patients with and without different causative genetic mutations.</p></sec><sec><title>Methods</title><p>We retrospectively evaluated the data of 119 infants with IS who underwent whole-exome sequencing (WES) before KD treatment. The KD efficacy was analyzed at the 16th week after initiation. Patients showing ≥ 50% seizure reduction from baseline and/or the disappeared hypsarrhythmia were considered as the responders. Chi-squared tests or two-sided Fisher's exact tests were performed for categorical data and Mann–Whitney <italic>U</italic>-tests for non-parametric and continuous data.</p></sec><sec><title>Results</title><p>The responder rate to KD in 119 patients was 47.90%. Six different causative monogenic mutations were identified in 32 (26.89%) patients with IS, including <italic>CDKL5</italic> (<italic>n</italic> = 8), <italic>ALG13</italic> (<italic>n</italic> = 3), <italic>KCNT1</italic> (<italic>n</italic> = 8), <italic>SLC35A2</italic> (<italic>n</italic> = 5), <italic>PCDH19</italic> (<italic>n</italic> = 4), and <italic>STXBP1</italic> (<italic>n</italic> = 4). Patients with <italic>CDKL5</italic> mutations showed a significantly better response to KD (87.50%) than patients without <italic>CDKL5</italic> mutations (<italic>p</italic> = 0.03). Seven of eight patients with <italic>CDKL5</italic> mutations were responders, including five mutations located in functional motifs, and two mutations in the catalytic domain.</p></sec><sec><title>Conclusion</title><p>KD therapy was effective in infants with IS. Patients with <italic>CDKL5</italic> mutations might have a better response to KD treatment.</p></sec>