Judith H. Miles, MD, PhD

Professor of Pediatrics and Pathology

William S. Thompson Endowed Chair in Autism

Thompson Center for Autism & Neurodevelopmental Disorders

Department of Child Health &

The Children’s Hospital at the University of Missouri

Medical Genetics, Autism, Prenatal Screening and Diagnosis

PhD:  1971  Indiana University

MD:  1975 University of Missouri-Columbia

Pediatrics:  1977 University of Missouri-Columbia

Medical Genetics:  1978 University of California – Los Angeles

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 .

Selected Publications

 Miles, J.H., McCathren, R., (2003) Autism, GeneReviews: Clinical Genetic Information Resource, www.GeneClinics.org

Miles, J. H., Hillman, R. E.:  The Value of a Dysmorphology Exam in Evaluating Autistic Individuals.  Am. J. Med. Genetics 91:245-253, 2000.

Miles, J.H., Hadden, L.L.,Takahashi, T.N., Hillman, R.E.: Head circumference is an independent clinical finding associated with autism. Am. J. Med. Genetics 95:339-350, 2000.

Miles, J.H., Takahashi,T.N., Haber, A. and Hadden L.: Autism Families with a High Incidence of Alcoholism.   J Autism Dev Disord 33(4), August 2003:403-415.

Stoelb, M., Yarnal, R., Miles, J., Takahashi, T.N., Farmer, J.E., McCathren, R., Predicting Responsiveness to Treatment of Children with Autism: A Retrospective Study of the Importance of Physical Dysmorphology. Focus on Autism and Other Developmental disabilities, 19(2): 66-77, 2004

Butler, M.G., Dasouki, M.J., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J.H., Wang, C.H., Stratton, R., Eng, Charis, E.: PTEN Gene Mutation Studies in Subjects with Autism and Macrocephaly,  J. Medical Genetics, 42:318-321, 2005.

Takahashi, TN., Farmer, J.E., Deidrick, K.K., Hsu, B.S., Miles, J. H., Maria, B.L.: Joubert Syndrome is Not a Cause of Classical Autism, Am. J. Medical Genetics, 132A:347-351, 2005.

Miles, J.H., Takahashi, T.N. Bagby, Sahota, P., Vaslow, D.F., Wang, C., S., Hillman, R.E Farmer, N.: Essential vs Complex Autism: Definition of Fundamental Prognostic Subtypes. Am. J. Medical Genetics  135A:171-180, 2005

Miles, J.H., Takahashi, T.N.: Lack of Association between Rh status, Rh immune globulin in Pregnancy and Autism. Am J. Medical Genetics, May 2007.

Miles, J.H., Takahashi, T.N., Farmer, J.A., Bocian, B., Munden, B., Flournoy, N., Braddock, S., Martin, R., Hillman, R.E.: Development and Validation of a Measure of Dysmorphology: Useful for Autism Subgroup Classification, Am. J. Medical Genetics, under review.