Kathleen J. Motil, M.D., Ph.D.
Associate Professor of Pediatrics, Baylor College of Medicine
Attending Physician, Section of Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital
Nutrient Metabolism in Girls and Women with Rett Syndrome
The primary goal of my research 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.
I currently am studying the natural history of osteopenia in girls and women with Rett syndrome. I have shown that girls with Rett syndrome have profound osteopenia that may occur at an early age, despite the absence of dietary calcium and vitamin D deficiency or hyperparathyroidism. Furthermore, a defect in intestinal calcium absorption does not account for their bone mineral deficits.
My studies use balance methods, stable isotope techniques, and/or dual-energy x-ray absorptiometry to characterize the adaptive responses of body mineral metabolism to dietary, hormonal, or pharmacologic perturbations. I currently am conducting a double-blind, placebo-controlled protocol that examines the role of dietary calcium supplementation on bone mineral status. The aim of these studies is to elucidate the mechanisms that contribute to bone mineral deficits and to provide recommendations for dietary calcium intakes in girls with this neurological disability.
Future research goals will address the role of novel and classic nutrients in modulating the biobehavioral outcomes of girls and women affected with Rett syndrome.
Marchand V, Motil KJ, NASPGHAN CON. Nutrition support for neurologically impaired children: a clinical report of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr 2006;43:123-35.
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;42:419-23.
Motil KJ. Gallbladder (Biliary Tract) Disease in Rett Syndrome. International Rett Syndrome Association Newsletter. Piscataway, NJ. International Rett Syndrone Association, 2004(2):1 1.
Motil KJ. Constipation in Rett Syndrome. International Rett Syndrome Association Newsletter. Piscataway, NJ. International Rett Syndrone Association, 2004(2):1 0.
Ellis KJ, Shypailo RJ, Hardin DS, Perez, Motil KJ, Wong WW and Abrams SA. Z-score prediction model for assessment of bone mineral content in pediatric diseases. Bone Min Res 16:1658-64, 2001.
Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, and Zoghbi HY. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 47:670-679, 2000.