Investigating The Many Different Types Of Autism
Anyone who has worked with children with autism knows that, based on symptoms alone, this disorder is comprised of several different types. Yet, surprisingly, no authoritative study exists to validate this supposition. That is about to change.
For the first time ever, a long-term study of boys and girls with and without autism is being conducted. Jam-packed with scientific evaluations of each participant that will provide data scientists can use for decades to come, this study is destined to determine once and for all if there are subtypes of autism, and, if so, exactly what those subtypes are. This ambitious study is taking place at the UC Davis M.I.N.D. Institute.
Named the Autism Phenome Project (“phenome” means “all observable characteristics”) it is the largest and most comprehensive assessment of children with autism ever attempted. It aims to distinguish among recognized subgroups, or phenotypes, of autism, linking them with distinct patterns of behavior and biological changes. Ideally, the findings will lead to targeted — and thus more effective — treatments specific to each child’s type of autism.
“Some children have autism symptoms from birth, others not until their second birthday,” explains principal investigator David Amaral, who serves as the M.I.N.D. Institute’s research director. “Which ones have gastrointestinal problems or immune problems? Who is more likely to have seizures? At the moment, we don’t really have the big picture.”
“This project is designed to gather sufficient information about a large enough group of kids to parse them into homogeneous, or similar, subtypes,” he adds. “At that point, researchers can explore the causes of each type of autism.”
As co-principal investigator Sally Rogers puts it, “The M.I.N.D. Institute was created to bring scientists together who had expertise among them in all the aspects of autism so that we could look at the whole of autism in a single study, rather than just one part at a time. That’s what the Autism Phenome Project (APP) is all about: parents, children and researchers forming a team to tackle all of autism, at once.”
Led by Amaral, a multi-disciplinary team of more than 50 M.I.N.D. Institute scientists began a pilot study in 2006 of 55 boys and girls aged 2 to 3.5 years, and their families. The project is ultimately projected to include 1,200 children. The mix will include 800 families with children with autism and 400 families with typically developing children, the latter as a control group.
“It’s a numbers game, in a sense,” explains Amaral, a UC Davis professor of psychiatry and behavioral sciences. “If, for example, there are 10 subtypes, then you’re bound to be more certain about your results with 1,000 subjects than with just 100.”
The participating children and their families are making an admirable commitment, as will the others who join this longitudinal study in the months to come: subjects are followed for three to eight years via approximately six UC Davis visits the first year and one to two visits in each of the subsequent years.
That first year involves the most exhaustive evaluations, covering everything from medical exams, behavioral assessments and genetic analyses to brain structure imaging, brain function assessments and immune profiling.
“It’s enormously gratifying for me to see how enthusiastic and excited the families are to participate in this groundbreaking study,” says Susan Rumberg, the study’s family support liaison. “Whether they have children with autism or typically developing children, these families
just want to help to find a cure. It’s really a noble goal.”
Rumberg serves as a resource for APP families, her many duties including …