The Etiology of Autism and NICHD Research- Update on the NICHD Collaborative Programs of Excellence in Autism (CPEAs)

The following is part of the slide presentation given by Marie Bristol-Power, PhD, who serves as the Special Assistant for Autism, in the Office of the Director at the NICHD, at the March 8, 2001, meeting of the Institute of Medicine (IOM) Immunization Safety Review Committee.

Network on the Neurobiology and Genetics of Autism: CPEAs

• The Network is currently supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Institute on Deafness and Other Communication Disorders (NIDCD).
• It includes 10 multidisciplinary programs-each is a unique research program.
• All programs study etiology, brain structure and/or function, and the developmental course of autism.
• The programs collaborate on studies that no single project can carry out alone.
• All programs use common diagnostic and core measures.

Some CPEA Research Findings

• Genetic hotspots exist for autism (done with an international consortium), especially on Chromosome 7.
• A mutation in the HOXA1 gene is found in a high number of autism patients.
• A missing segment of Chromosome 15 has been identified in a child with autism.
• Behaviorally, there is evidence of autism behaviors in children by eight-to-12 months.
• There seems to be evidence of a subgroup in autism, who show later regression after normal development.
• People with autism show functional brain differences in processing social and auditory information.
• Immune indicators have been identified, which suggests a possible immune assay found in autism.
• Differences in head circumference, for both children and adults with autism have also been recorded.

CPEA Autism Regression/Vaccination Study

• The study is co-funded by the NICHD, NIDCD, the Centers for Disease Control and Prevention (CDC), and the National Immunization Program at the CDC.
• One goal of the study is to assess temporal association between measles/mumps/rubella (MMR) vaccine and onset of autism (early onset vs. regressive).
• Another aim of the study is to try to replicate studies of persistent measles infection in autism cases vs. healthy controls, which have been widely publicized, but remain unproven.
• Stage 1-Includes 1,600 well-diagnosed cases of autism and 1,250 healthy controls; will examine individual vaccination records as well as records of onset of autism (ADI-R), specifically looking at age of onset, age of recognition, and age of diagnosis.
• Stage 2-Replicate findings regarding abnormal measles antibody titers and persistent measles infection; Stage 2 will examine 250 early onset autism cases, 250 regressive autism cases, 250 healthy controls matched to early onset cases, and 250 healthy controls matched to regressive autism cases.

Learn more about the NICHD CPEA Network

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