Kathleen J. Motil, MD, PhD

Dr. Motil investigates nutrient metabolism in girls and women with Rett syndrome, a neurodevelopmental disorder caused by a mutation in the MECP2 gene. The broad goal of her research is to understand how nutritional interventions modify growth and body composition outcomes in these individuals. Of particular interest is the natural history of osteopenia and the role of dietary, hormonal, inflammatory, and physical factors in the bone health of girls and women with Rett syndrome. Dr. Motil recently demonstrated that osteopenia is present at an early age and worsens across the life span of girls and women with Rett syndrome. She has shown that the bone mineral content (BMC) and density (BMD) of girls and women with Rett syndrome are associated with dietary calcium, phosphorous, and protein intakes whereas correlations between genotype, ambulatory status, hormone profiles, or inflammatory markers and BMC or BMD are not detected. Dr. Motil recently demonstrated that 20% of girls and women with Rett syndrome have vitamin D deficiency. Her research suggests that bone mineral deficits may be amenable, in part, to dietary modifications. She currently is investigating the influence of dietary calcium supplementation on bone mineral content in prepuberal and post pubertal girls with Rett syndrome.