The Many Faces of Autism

Many more children are diagnosed with autism today compared to 3-4 decades ago.  Some of this difference reflects changing use of diagnostic terminology for more severe cases with low IQ and some is the tendency to make a diagnosis in individuals with milder behavioral symptoms.  But there may be a true increase in the frequency of autism.  The spectrum of patients receiving an autism diagnosis is extremely broad ranging from children with severe intellectual disability and minor or major congenital malformations to beautiful babies who grow up to have a normal IQ, but are burdened with disabling behavioral abnormalities.  The children with more severe disabilities mostly have genetic abnormalities in one among hundreds of genes that can, when damaged, cause autism.  For normal appearing children at the milder end of the spectrum, many of whom have a normal IQ, the cause of the autism is almost completely enigmatic.  However a recent discovery linking the nutrient carnitine to autism suggests that some forms of autism may prove to be preventable through dietary modification.

Speaker:

Arthur L. Beaudet, M.D., is a professor and chair of the Department of Molecular and Human Genetics. He is also a professor in the departments ofpediatrics and molecular and cellular biology. He received his bachelor's degree at the College of the Holy Cross in 1963 and his medical degree at Yale University School of Medicine in 1967.

A pioneer in the study of molecular genetics, Beaudet is involved in the study of the molecular abnormalities causing Prader Willi syndrome (PWS) and Angelman syndrome (AS).

Beaudet was voted to membership in the Institute of Medicine in 1995. He is also a member of the Association of American Physicians and a past president of the American Society of Human Genetics. He is currently serving in the FDA's Genetics Devices Panel of the Medical Devices Advisory Committee and is on the editorial board of the Journal of Clinical Investigation.