The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome.
Study Goal
The researchers aimed to evaluate the efficacy and tolerability of the ketogenic diet in reducing seizure frequency and improving cognition in children with Rett syndrome.
Results Summary
The study found that 67% of children had ≥50% improvement in seizure frequency at 6 months, and 44% maintained this improvement at 12 months. Patients with significant seizure reduction also showed improved cognition and alertness, and the diet was well tolerated.
Population
9 children with Rett syndrome and refractory epilepsy, all with gastrostomy tubes.
Effective Dosage
8 started with a ketogenic formula, 1 with a food-based diet (specific amounts not detailed).
Duration
12 months
Interactions
None mentioned
| Intervention | Direction | Endpoint | Population | Dosage | Impact | Claim # |
|---|---|---|---|---|---|---|
ketogenic diet | decrease | seizure frequency | 9 children with Rett syndrome | ≥50% | ≥50% improvement | #1 |
ketogenic diet | decrease | seizure frequency | 9 children with Rett syndrome | 67% (6/9) | ≥50% improvement in 67% | #2 |
ketogenic diet | decrease | seizure frequency | 9 children with Rett syndrome | 44% (4/9) | ≥50% improvement in 44% | #3 |
ketogenic diet | increase | cognition and alertness | Patients with ≥50% seizure reduction | - | improvement | #4 |
ketogenic diet | neutral | - | - | - | well tolerated | #5 |
ketogenic diet | decrease | seizures associated with Rett syndrome | - | - | has high efficacy | #6 |
ketogenic diet | decrease | seizures | two-thirds | - | significant seizure reduction | #7 |
Rett syndrome is an X-linked dominant neurodevelopmental disorder characterized by cognitive and communicative regression, stereotypies and loss of hand use. Epilepsy is present in 50% to 90% with approximately one-third having refractory epilepsy. The ketogenic diet has been used as an antiseizure therapy for more than a century; however, there is limited data on its use in Rett syndrome. In this retrospective single-center case series, we present 9 children with Rett syndrome who were placed on ketogenic diet. There was ≥50% improvement in seizure frequency in 67% (6/9) and 44% (4/9) at 6 and 12 months, respectively. Patients with ≥50% seizure reduction had an improvement in cognition and alertness. All 9 had a gastrostomy tube, with 8 starting ketogenic diet with a ketogenic formula and 1 with a food-based diet. The ketogenic diet is well tolerated and has high efficacy for seizures associated with Rett syndrome with two-thirds reporting significant seizure reduction. The presence of a gastrostomy tube can help the initiation and titration of ketogenic diet.