Making a Difference: Autism Researcher Catherine Lord
As young woman, Catherine Lord joined the "army of undergraduate students" working with psychologist Ivar Lovaas at UCLA to treat children with autism with a new therapy.1 It was the early 1970s, autism treatment was in its infancy, and the children she tried to help came from institutions. "I was on a mission to teach these kids to talk," she recalled. "I thought, 'if I can talk, you can talk.'"
The college student became fascinated with this rare disorder. In time, she would become one of the foremost autism researchers, a co-creator of the tools widely used to diagnose autism, and the chief investigator for the phenotyping (clinical) part of the Simons Simplex Collection (SSC) project, among other achievements.
Much has changed since she earned a college degree in 1971, including our definition, understanding and treatment of autism spectrum disorders (ASD). The number of children diagnosed with an ASD also has grown dramatically, to 1 in 88 children today.2
Looking for Causes of Autism
Dr. Lord, an author of more than 150 research papers and several books, became involved in the SSC project to research the causes of autism. The SSC is an interactive database of genetic, clinical and medical information from more than 2,600 families in the U.S. and Canada. Each family has one child with ASD, hence the name "simplex" or one, and some families also have typically developing siblings. Another large research database exists for "multiplex" families with two or more children with autism.
Researchers believed that simplex families could provide a glimpse into new genetic changes that contribute to autism risk. They could compare the genes of the child with autism to his or her siblings and parents, all of whom don't have autism.
They have made significant discoveries, she said. Chief among them has been finding tiny genetic changes – areas where material has been duplicated or deleted – in nearly 6 to 8 percent of the children with autism in the SSC.3
Scientists have not yet found a single genetic risk factor shared by most of the people with autism, but that knowledge itself is valuable. "The finding that it's not so simple is important," leading to new avenues of study, Dr. Lord explained.
Besides being a genetic database, the SSC contains information about the children's developmental histories. Scientists have drawn upon this information for behavioral and developmental studies of autism.
Using SSC data, for example, researchers at Kennedy Krieger Institute found that more children with ASD develop speech than previously believed, providing hopeful news to parents worried that a newly-diagnosed toddler may never talk. Other scientists have used the data to study autism topics as diverse as head sizes, friendships, anxiety, siblings, risk factors for aggression, repetitive behaviors, and the accuracy of autism spectrum diagnoses across different clinics.
"Being a person interested in behavior, I always thought this would be a great secondary gain of having this database," said Dr. Lord, who earned a Ph.D. in psychology from Harvard University in 1976. She is a co-creator of two tools used to diagnose children, the Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised.4 She helped develop the new definition of autism spectrum disorder, which took effect in 2013. She also directs the Center for Autism and the Developing Brain, which provides early intervention and other services, in White Plains, New York.
What Lies Ahead for Autism Research
I think we need a hypothesis about the development of brain functioning that explains why you would have basic deficits in social behaviors and communication, and repetitive behaviors....
Looking forward, Dr. Lord said, she believes one of the major questions facing researchers is why autism has two seemingly different but linked components: problems with social and communication skills, in addition to repetitive behaviors, such as hand-flapping, rocking and lining up toys.
"I think we need a hypothesis about the development of brain functioning that explains why you would have basic deficits in social behaviors and communication, and repetitive behaviors, starting at an early age. We need a hypothesis that takes into account that there is this strange link between social deficits and wanting to do something repetitive," she said.
"I think another challenge is trying to figure out what these brain pathways that are associated with autism have in common, and what does that mean for the neurochemistry of autism. We need a better understanding of what is behaviorally off about autism," she said.
Whether you are in Buenos Aires or Stockholm, she said, finger-flicking and other repetitive motions of children with autism look remarkably similar. "But we don't know what it means, or why the child does it," she said.
"We know there are a number of different kinds of repetitive behaviors that kids do. What do those behaviors have in common, and how are they different from what other people [who don't have autism] do?"
During an early analysis of the SSC data, a researcher noticed that you could tell the children with autism from their unaffected brothers and sisters by looking at one piece of information: whether they have friends, she said. But that leads to more questions. "There are so many other disorders where kids don't have friends, and there are many reasons why people don't have friends. But we need to have better understanding of that," she said.
Four Decades of Change
When I started doing this 40 years ago, autism was a last resort diagnosis.
Questions remain in the study of autism, but the last 40 years have brought many changes, such as greater public awareness and acceptance, she said. Parents are seeking developmental testing for their children at younger ages than they did years ago, she said. They know what symptoms to look for. "Many parents are more aware of the social skills deficits associated with autism. They are thinking, 'Gosh, my child is not responding to his name,' which was not so much of a red flag for parents 30 years ago." Another change: fewer children being diagnosed with autism also have intellectual disability, she said.
"When I started doing this 40 years ago, autism was a last resort diagnosis," she said.
Like other developmental disorders, autism carried a stigma. That was evident in a 1965 Life magazine article about Dr. Lovaas's new behavioral therapy for autism. The article described the children as being "far-gone mental cripples" who have a "special form of schizophrenia called autism." Their behaviors were "grotesque" and "infuriating."5 Doctors now understand that autism and schizophrenia are different conditions. And magazine articles would be unlikely to describe people with disabilities in such negative and highly-charged terms today.
Now, Dr. Lord said, autism is a word that carries with it understanding and a degree of hope for parents. "Particularly once families have accepted that their child has learning differences, some families actively seek a diagnosis of autism, and that's a difference," she said. "They see this as an attractive alternative to a diagnosis of Attention Deficit Hyperactivity Disorder, Oppositional Defiant Disorder and intellectual disability."
Part of that hope comes from better therapies and early intervention. "We have a much better understanding of the miracle of the ordinary child talking fluently," she said. As an undergraduate, she had tried to get children to repeat words. Now, therapists focus on the broader concept of social communication, using newer techniques. "We ask, 'How can we get this child to communicate? And how do I pull this child into a social world?'"
After decades devoted to the study, diagnosis and treatment of autism, her personal goal is both simple and profound. "We can't make the autism go away," she said, "but if we could find a place in this world for every kid with autism, where he or she finds joy and a sense of competence, at the level of ability possible, and independence, then we will have made a difference."
- Q+A with Autism Expert Catherine Lord. (2013, March 11) Retrieved from http://www.gsas.harvard.edu/news/q-a-with-catherine-lord.php
- Centers for Disease Control Summary of Autism Spectrum Disorder (ASD) Prevalence Studies, Retrieved from http://www.cdc.gov/ncbddd/autism/documents/autism_prevalencesummarytable_2011.pdf
- Anderson, C. (2012, January 9) Simons Simplex Collection: The Key to Findings in Three Major Autism Genetics Studies. Retrieved from http://www.iancommunity.org/cs/simons_simplex_community/key_genetic_findings
- Western Psychological Services publishes the Autism Diagnostic Observation Schedule by Catherine Lord, Ph.D., Michael Rutter, M.D., FRS, Pamela C. DiLavore, Ph.D., and Susan Risi, Ph.D., and the Autism Diagnostic Interview-Revised by Michael Rutter, MD, FRS, Ann Le Couteur, MBBS, and Catherine Lord, Ph.D.
- Grant, A. (1965, May 7). Screams, Slaps and Love. Life. Pages 92-95. Retrieved from http://books.google.com/books?id=TVMEAAAAMBAJ&q=Allan+Grant#v=snippet&q=Allan%20Grant&f=false
Photo courtesy of Dr. Lord.