Research

Update on CSF/Neurotransmitter (spinal tap) study

We recruited 76 patients at three sites. The folate metabolites were normal in all the participants except for two values which were low. Because of this study, we do not believe there is any significant folate metabolite abnormalities in the spinal fluid of girls with Rett Syndrome. Therefore we do not recommend treatment with folinic acid as this medicine can have adverse effects, which include an increase in seizures.

The publication is: "Spinal flulid 5-methyltetrahydrofolate levels are normal in Rett Syndrome."  Neurology 64:2151, June 2005.

Study participants were not treated with folinic acid.

Nutrient Metabolism in Girls and Women with Rett Syndrome

The primary goal of this research project led by Dr. Kathleen Motil is to understand the role of dietary and hormonal factors in the regulation of growth and body composition in girls and women with Rett Syndrome, a neurodevelopmental disorder caused by a mutation in the MECP2 gene. This endeavor is relevant because the nutrient requirements for optimal health and functional performance are unknown in individuals with this rare genetic disorder. Dr. Motil is currently studying the natural history of osteopenia in girls and women with Rett Syndrome. These studies use balance methods, stable isotope techniques, and dual-energy X-ray absorptiometry to characterize the adaptive responses of body mineral metabolism to dietary, hormonal, or pharmacologic perturbations. Dr. Motil has shown that girls with Rett Syndrome have profound osteopenia and that a defect in intestinal calcium absorption does not account for their bone mineral loss.

Future research will use isotopically labeled calcium and dual-energy X-ray absorptiometry to examine the bone mineral response to dietary and pharmacologic interventions. The ultimate aim of these studies is to elucidate the mechanisms that contribute to bone mineral loss and to provide recommendations for dietary calcium intakes in girls with this neurologic disability.

Natural History of Osteopenia in Rett Syndrome

Drs. Kathleen J. Motil and Daniel Glaze are conducting a study to characterize the progression of osteopenia (bone mineral loss) in girls and women with Rett syndrome and to determine if genetic, dietary, hormonal, physical activity, or inflammatory factors are causally related to bone mineral loss. We are requesting permission from the parents or guardians of Rett girls and women, 1 to 40 years of age who do NOT have spinal rods, to allow their daughters to undergo bone density measurements, using dual-energy absorptiometry; bone age x-ray measurements; growth measurements; blood and urine collections to assess nutritional, hormonal, and inflammatory factors; 3-day food consumption records; and a review of their medical history as it relates to ambulation, bone fractures, and medication use. We hope that the information obtained from this research study will advance our understanding about osteopenia and bone fractures in Rett Syndrome, and ultimately, will lead to the development of treatment strategies for girls and women affected with this disorder. Call 832-822-RETT for further information.

Biliary Tract Disease in Rett Syndrome

Drs. Kathleen J. Motil and Daniel Glaze are conducting a study to characterize the pattern of biliary tract disease in girls and women with Rett Syndrome and to identify factors that may predispose these individuals to cholecystitis, gallstones, and biliary dyskinesia. We are requesting permission from the parents or guardians of our Rett girls and women who have been affected with biliary tract disease to review their daughter's medical records for symptoms, physical findings, results of diagnostic studies, and surgical outcomes associated with gall bladder disease. We hope that the information obtained from this research study will advance community understanding and promote awareness about biliary tract disease in Rett Syndrome, and ultimately, will benefit the health and well-being of the girls and women affected with this disorder. Call 832-822-RETT for further information.

Fractional Absorption of Calcium Increased in Girls with Rett Syndrome

Drs. Kathleen J. Motil and Daniel Glaze recently completed a study to characterize the pattern intestinal calcium absorption in girls with Rett Syndrome who are osteopenic. Osteopenia, or bone mineral loss, occurs in Rett girls. Although the cause of bone mineral loss is unknown, their poor walking ability and use of seizure medications may play a role. Low bone density is present at an early age despite adequate dietary Ca consumption. As a consequence of bone mineral loss, Rett girls are at increased risk for skeletal fractures. We wanted to know if factors related to intestinal Ca absorption resulted in bone mineral loss and if these factors contributed to the overall dietary Ca needs of Rett girls. We studied intestinal Ca absorption, urinary Ca loss, dietary Ca intake, and hormone markers related to bone metabolism using stable isotopes and duel energy x-ray absorptiometry in Rett and unaffected girls. We found that Ca absorption is higher in Rett girls whose diet contained adequate Ca, but who exhibit increased urinary Ca loss and have low bone density. Whether additional dietary Ca can sustain increased Ca absorption and enhance bone mineral deposition in Rett girls has not been established.

Further information can be found in the publication: Motil KJ, Schultz RJ, Abrams S, Ellis KJ, Glaze DG. Fractional calcium absorption is increased in girls with Rett syndrome. J Pediatr Gastroenterol Nutr 2006; 42:419-426.

Research Studies in Progress

For more information about current studies being conducted in Rett Syndrome, please contact the nurse at The Blue Bird Circle Rett Center, Judy Barrish, RN, at 832-822-1781 or toll-free at 1-800-364-5437, ext. 2-1781, or e-mail Mrs. Barrish at jobarris@texaschildrenshospital.org.