Evaluate clinical characteristics, rate of side effects and efficacy (seizure reduction) of the Ketogenic Diet in Trisomy 21 patients with refractory epilepsy.

Trisomy 21 (T21) is a condition with numerous comorbidities. Epilepsy affects 1-13% of this population, with Infantile Spasms (IS) being common¹. Ketogenic diet (KD) is a non-drug option that has been frequently used to treat drug-resistant seizures and it has been found successful in treating IS². Given the renewed interest KD as an anti-seizure therapy, we reviewed a cohort of patients with T21 and epilepsy followed at our center who had been maintained on KD.

Retrospective review of a cohort of T21 patients with refractory epilepsy on KD. Clinical characteristics, including type of epilepsy, age of onset, number of anti-epileptic drugs (AEDs) at onset and after starting KD, duration on KD and ratio of KD, parental report of reduction in seizures and complications related to KD were included.

Seven patients were included in the review (87% male). Age ranged from 2-13 years (average age [months]: 79 months, SD: 50.7). Seizures started on average at 11.2 months (SD 16.4 months) and 85.7% of patients initially had hypsarrhythmia and clinical spasms. At initiation of KD patients were on 2-4 AEDs and on average 24.4 months old (age ranging 11-86 months, SD 27 months). At 6 month follow up, 57% of patients were on AEDs; 71.43% achieved seizure freedom. On average, patients remained on KD for 20.8 months and most common side effect was mild hyperlipidemia (71.4%). A small amount of patients reported some GI intolerance and acidosis (28.5%). No patients had weight loss, renal stones or strokes.