Long Chain Poly-unsaturated Fatty Acid Supplementation in Rett Syndrome: A Randomized Placebo-controlled Trial

Background and Objective: Phospholipids fatty acids are major structural components of neuronal cell membranes and play a fundamental role in membrane function, modulating fluidity. Changes in the metabolism of fatty acids have been demonstrated in several neuro-psychiatric disorders both in clinical and animal studies. Also in Rett Syndrome very long chain fatty acid and carnitine levels may be decreased. The aim of this work was to evaluate changes in long chain poly-unsaturated fatty acid status and functional neurophysiological, neuropsychological and behavioural functions at three and six months in a trial of long chain poly-unsaturated fatty acid supplementation in girls with Rett Syndrome. Materials and Methods: The study included a randomized, 3-6months, omega 3 placebo-controlled, one-way crossover trial with 22 girls with classical Rett Syndrome (mean age 13.25, range 6-20 years). The patients were randomized to long chain poly-unsaturated fatty acid (250 mg below 15 kg, 500 mg between 15 and 26 kg or 750 mg if over 26 kg) or placebo (maize oil) for 6 months. Patients underwent computerized EEG (electroencephalogram) video-polygraphic recordings during wakefulness. Detailed, specific assessment tools were used to measure attention and discrimination before and after supplementation. Results: Results show that despite the proven assimilation of long chain poly-unsaturated fatty acid, in neurophysiological parameter no statistically significant result emerged. Neuropsychological and behavioural measurements pre-test and post-test showed weak modifications. Conclusion: This study indicates that the effects of long chain poly-unsaturated fatty acid supplementation in girls with RTT in terms of neuropsychological and behavioural parameters are weak.