Local researchers join international effort to search for the causes of autism

Two thousand families are sought for unique new study Saint Louis University researchers are involved in a multi-site consortium to gather and bank DNA samples from 2,000 autism patients and their families over the next three years.

The initiative, called the Simons Simplex Collection (SSC), is the first coordinated effort to create a database of information about families with only one child with a form of autism spectrum disorders.  Dr. Rolanda Maxim, M.D., assistant professor of pediatrics and director of the Program for Autism Spectrum Disorder at the Knights of Columbus Developmental Center at Cardinal Glennon Children’s Medical Center, is the principal investigator for Saint Louis University site.

This study is done in direct collaboration with department of psychiatry at Washington University, where the principal investigator is John Constantino, M.D.  "These findings will help us identify new genetic diagnostic tests and risk factors for autism spectrum disorders in certain families," said Maxim.

African-American families from the surrounding area of Saint Louis are primarily being recruited to participate through Saint Louis University site.  Families eligible to participate consist of: only one child with an autism spectrum disorder (ASD), age four or older; one or more siblings without an ASD, age four or older; and unaffected biological parents who are willing to participate.  Eligible children with an ASD will receive a comprehensive clinical assessment and all family members will donate blood, a source of DNA. 

A small number of families with no siblings or siblings under the age of four may be eligible to participate in the study.  This information will be made available to scientists around the world who are searching for clues to the causes of autism. Recent scientific findings suggest that there are many forms of autism spectrum disorders.  There are core deficits that define ASD, yet there is a great deal of variation in the clinical features and level of functioning among children and adults with ASD. 

A key benefit of a large scale study like the Simons Simplex Collection is its potential to identify the different sub-types so that appropriate treatments or prevention strategies may be developed.  This initiative comes at an exciting time in history, in which breakthroughs in gene mapping, advancement of high-tech tools, and the latest brain research present a unique opportunity for progress. 

"Our ability to discover the genetic causes of ASD will greatly enhance our understanding of underlying biological processes," says Dr. Claudia Hilton, Saint Louis University project coordinator, at the department of occupational science and occupational therapy. "This is an important step toward the development of new drugs and other effective interventions."

(Source: Saint Louis University: April 2008)