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

Objective: 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.

Methods: 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 U-tests for non-parametric and continuous data.

Results: 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 CDKL5 (n = 8), ALG13 (n = 3), KCNT1 (n = 8), SLC35A2 (n = 5), PCDH19 (n = 4), and STXBP1 (n = 4). Patients with CDKL5 mutations showed a significantly better response to KD (87.50%) than patients without CDKL5 mutations (p = 0.03). Seven of eight patients with CDKL5 mutations were responders, including five mutations located in functional motifs, and two mutations in the catalytic domain.

Conclusion: KD therapy was effective in infants with IS. Patients with CDKL5 mutations might have a better response to KD treatment.