The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome DOI

Babitha Haridas,

Stacey K. Bessone,

Zahava Turner

et al.

Journal of Child Neurology, Journal Year: 2025, Volume and Issue: unknown

Published: April 10, 2025

Rett syndrome is an X-linked dominant neurodevelopmental disorder characterized by cognitive and communicative regression, stereotypies loss of hand use. Epilepsy present in 50% to 90% with approximately one-third having refractory epilepsy. The ketogenic diet has been used as antiseizure therapy for more than a century; however, there limited data on its use syndrome. In this retrospective single-center case series, we 9 children who were placed diet. There was ≥50% improvement seizure frequency 67% (6/9) 44% (4/9) at 6 12 months, respectively. Patients reduction had cognition alertness. All gastrostomy tube, 8 starting formula 1 food-based well tolerated high efficacy seizures associated two-thirds reporting significant reduction. presence tube can help the initiation titration

Language: Английский

Clinical Efficacy and Safety of the Ketogenic Diet in Patients with Genetic Confirmation of Drug-Resistant Epilepsy DOI Open Access
Jihoon Na, Hyun Joo Lee, Young‐Mock Lee

et al.

Nutrients, Journal Year: 2025, Volume and Issue: 17(6), P. 979 - 979

Published: March 11, 2025

Drug-resistant epilepsy (DRE) affects 20–30% of patients with who fail to achieve seizure control antiseizure medications, posing a significant therapeutic challenge. In this narrative review, we examine the clinical efficacy and safety classic ketogenic diet (cKD) its variants, including modified Atkins (MAD), medium-chain triglyceride (MCTD), low glycemic index treatment (LGIT), in genetically confirmed drug-resistant epilepsy. These diets induce metabolic shift from glucose ketones, enhance mitochondrial function, modulate neurotransmitter balance, exert anti-inflammatory effects. However, genetic factors strongly influence cKD, absolute indications transporter type 1 deficiency syndrome (GLUT1DS) pyruvate dehydrogenase complex (PDCD). Preferred adjunctive applications KD include epilepsies, such as SCN1A-related Dravet syndrome, TSC1/TSC2-related tuberous sclerosis complex, UBE3A-related Angelman syndrome. because risk decompensation, cKD is contraindicated pathogenic variants carboxylase SLC22A5. Recent advancements precision medicine suggest that microbiome profiling may refine patient selection optimize KD-based dietary interventions. Genome-wide association studies multiomics approaches have identified key pathways influencing response these pave way for individualized strategies. Future research should integrate genomic, metabolomic, data develop biomarker-driven protocols improved safety. As therapies continue evolve, personalized medical approach essential maximize their utility refractory syndromes.

Language: Английский

Citations

1
The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome DOI

Babitha Haridas,

Stacey K. Bessone,

Zahava Turner

et al.

Journal of Child Neurology, Journal Year: 2025, Volume and Issue: unknown

Published: April 10, 2025

Rett syndrome is an X-linked dominant neurodevelopmental disorder characterized by cognitive and communicative regression, stereotypies loss of hand use. Epilepsy present in 50% to 90% with approximately one-third having refractory epilepsy. The ketogenic diet has been used as antiseizure therapy for more than a century; however, there limited data on its use syndrome. In this retrospective single-center case series, we 9 children who were placed diet. There was ≥50% improvement seizure frequency 67% (6/9) 44% (4/9) at 6 12 months, respectively. Patients reduction had cognition alertness. All gastrostomy tube, 8 starting formula 1 food-based well tolerated high efficacy seizures associated two-thirds reporting significant reduction. presence tube can help the initiation titration

Language: Английский

Citations

0