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Judith (Judy) Miles, MD, PhD

Professor of Pediatrics, Director, Division of Medical Genetics, Professor of Pathology


Child Health-Pediatrics
One Hospital Drive, NW508
Columbia, MO 65212


Dr. Miles’ clinical interests are in the areas of autism, genetic syndrome diagnosis and the provision of services to underserved rural areas. She is the Associate Director for Bio-Medical Research and the William S. Thompson Endowed Chair for Autism Research at the University of Missouri. The Comprehensive Autism Diagnosis and Management Clinic is sponsored by a grant from the Missouri Department of Mental Health, Division of Mental Retardation and Developmental Disabilities, which enables us to provide a “Medical Home” for children and adults with autism. The clinic provides complete diagnostic, medical, dietary /nutritional, metabolic and medication management. This multidisciplinary program brings together pediatricians trained in medical genetics and developmental pediatrics, neuropsychologists, a registered dietician, child psychiatrics and an autism nurse clinician.


Dr. Miles research interests are the delineation of the clinical and genetic heterogeneity within the autism behavioral diagnosis and how this information can be used to improve diagnosis, find specific genetic and epigenetic causes and to direct treatment choices which will improve outcomes. One project has determined that the primary step in the delineation of autism subgroups is to determine whether an individual has essential or complex neurodevelopmental autism. About 30% of individuals with autism have the complex phenotype, which is diagnosed on the basis of a pattern of physical dysmorphology, indicating an alteration in early morphogenesis. The remainder has essential autism that is not associated with a clear insult to morphogenesis and occurs with a higher male to female ratio and higher sib recurrence risk.  We have recently developed an Autism Dysmorphology Measure (ADM) which can be completed by medical clinicians who are not extensively trained in medical dysmorphology, and still retain the level of sensitivity and specificity of the comprehensive dysmorphology examination.  Collaborative studies with Dr. Ye Duan are using advanced computational techniques to extract 3D surface models of brain structure and analyze brain anatomy including volume, asymmetry and highly localized shape variations. By concentrating on a homogeneous group of classically autistic children we will be able to identify small changes in the shape of regions of the brain that would be missed in a more heterogeneous study group. Identification of specific and consistent regions of brain structure abnormality in children with autism will increase basic knowledge of brain structure and provide clues to the developmental timing and processes affected by autism. Studies with Dr. Gary Yao are analyzing the dynamic pupillary reflex, as a technique to evaluate functions of the retina, midbrain and cortex which can help characterize brain function in children with autism.  We have recently shown that that exposure to Rh immune globulin preserved with mercury-containing thimerosal during pregnancy was no higher for children with autism which adds to the evidence that there is no causal association between thimerosal and childhood autism. Additional research studies include investigations of the differences between males and females with autism, the role of macrocephaly as an autism risk factor and the relationship between facial and brain structure in autism.


More information on Dr. Miles can be found here.

Research Areas of Interest

Child health
Rural health care