Research Engine

All in the autism family

A conversation with Dr. Thomas Anders, one of the leaders of the effort to create a statewide registry for autism, as the project enters its second year

Photo by Richard Asinof

Dr. Thomas Anders, one of the leaders of the RI-CART project to create a statewide autism registry in Rhode Island, talked about the challenges the effort is facing.

Courtesy of Anna Maria Angelosanto

Aly, Anna Maria Angelosanto's nine-year-old daughter, has been diagnosed with autism. Angelosanto had not heard about the RI-CART and the statewide autism registry until she was interviewed by ConvergenceRI.

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By Richard Asinof
Posted 8/11/14
The development of a statewide registry of Rhode Island residents diagnosed with autism, created within a collaborative research framework, has enormous potential to unlock the genomics behind the disorder. But after one year, the number of those enrolled is 300, short of the intended goal of 2,000. Further, the new registry has not yet spurred new research critical to its success.
Are there better ways through social media for RI-CART to tap into the autism parents network? Is there a way to excite more interest in new research by graduate students in Rhode Island? Would the innovative idea of a visual family portrait – in addition to the database – provide an important vehicle for outreach? How can parents with children with autism connect directly to the RI-CART registry?
As much as universities and hospital systems compete for grants from foundations and federal sources, the future of research promises to be collaborative in nature. The RI-CART model offers potential for future research efforts to develop Rhode Island-specific research, taking advantage of the state’s size and the ability to develop a cohesive cohort for studies. There are numerous collaborative research projects in population health management and community health outcomes that would quantify the work now underway in Rhode Island.

PROVIDENCE – It’s been a year since the Rhode Island Consortium for Autism Research and Treatment, or RI-CART, announced that it had received a $1.2 million grant from the Simons Foundation to support its efforts to create a statewide, confidential registry for individuals diagnosed with autism in Rhode Island.

The goal of the three-year grant is to enroll about 2,000 of an estimated 10,000 children and adults in Rhode Island that have been diagnosed with autism spectrum disorders.

The voluntary registry will support autism research and public advocacy by providing a rich source of anonymous information about families affected by autism, their health and quality of life, and their access to services.

As part of the project, researchers will administer the Autism Diagnostic Observation Schedule, or ADOS, free of charge to those who enroll in the registry. Researches are also looking to take blood samples to aid in further genomic research – de-identified – on autism at the statewide and national level.

ConvergenceRI sat down recently with Dr. Thomas Anders, an adjunct professor of Psychiatry and Human Behavior at Brown University, to talk about the progress and the challenges encountered by the RI-CART project. Anders, who is emeritus professor of Psychiatry and Behavorial Sciences at the UC Davis M.I.N.D. Institute and past president of the American Academy of Child and Adolescent Psychiatry, is a senior consultant with the RI-CART team.

In 2013, Anders framed the importance of the work by saying: “One in 88 children in the U.S. is diagnosed with autism and more than one million children in the country are directly affected by autism.” By establishing the unique model of collaborative research, he continued, “Rhode Island is demonstrating its commitment to tackling integrated scientific research on autism and autism spectrum disorders.”

The broad network of collaborators include: Bradley Hospital, Rhode Island Hospital, Women & Infants Hospital, Butler Hospital, Memorial Hospital, Brown University and its Warren Alpert Medical School, the Brown Institute for Brain Science, the Brown Department of Psychiatry and Human Behavior, the Norman Prince Neurosciences Institute, Gateway Healthcare, Rhode Island College, University of Rhode Island, The Autism Project, the Groden Network, The NeuroDevelopment Center, Rhode Island Technical Assistance Project, the R.I. Department of Education and the R.I. Department of Health, Office of Special Needs.

The potential of the registry and research conducted as a result was likened to the Framingham Heart Study and its identification of the major causative factors and characteristics of heart disease by Dr. Eric Morrow, an assistant professor in biology at Brown University.

Still, as Anders told ConvergenceRI, the registry “is still a dream. Much hard work remains to get where we want to go.”

ConvergenceRI: How many participants have enrolled in the registry?
ANDERS:
When we started, we had an editorial in The Providence Journal. We had announcements all around. We went to various parents’ fairs, walks and runs and handed out flyers.

We had our RI-CART members who were at Rhode Island Hospital and at Women & Infants and at the Groden Center referring patients.

As of this morning, 300 subjects have been enrolled in the registry that have all received an ADOS assessment.

Most of them have had blood drawn for the genomic studies. Some of them [were enrolled] before the Simons Foundation funding, when Dr. Morrow’s blood studies were added to the original protocol. We’re pulling them back to get blood studies.

The Simons Foundation is interested in the genomics of autism, they wanted large samples, and they were impressed with the epidemiological catchment area [of Rhode Island], which is very unique in the country.

We need, for the Simons Foundation, with two more years to go, we need 2,000 people enrolled.

If we get 2,000, I think they will continue to fund us.

The problem, which was brought up at a recent RI-CART meeting, is that some parents are reluctant to have their children enrolled in a registry, even though the registry is anonymous, there’s no identifying data that would identify them.

There’s a sense of Big Brother watching.

So there is some reluctance. We have found that after the first year, things have begun to slow down; we haven’t been recruiting as many families.

We would like to recruit between 15 and 20 families a week into the registry, but it’s slowing down to where we’re getting between five and six families a week.

ConvergenceRI: How you have tried to counter that trend?
ANDERS:
To try and counter that, we’ve trained more than a dozen psychologists to become ADOS-reliable testers.

We paid for their training. We recruited a trainer to come to Providence and hold a three-day session.

It’s a process. We’ve got to get more out in the community. We’re hoping in the second year [of the grant] to use the sites themselves, like the Groden Center, like Women & Infants Hospital, like the Bradley Hospital school. We’ve trained the people at those sites to the ADOS assessments.

We will also have a traveling phlebotomist to go out and draw the blood.

But that plan has proven more difficult than it sounds. People are so busy at these sites; recruiting a research subject into a registry requires an amount of time. And, even though we’re going to pay them to the ADOS evaluation.

We’re working to try and improve the process.

If we don’t recruit the numbers, we’re in trouble.

A second concern is that the registry is not going to be of any use unless researchers begin writing grants to ask questions and recruit subjects that are in the database for further studies.

And that has yet to happen, even though we have 300 subjects, which seems to me a pretty good sample size.

We haven’t gotten the enthusiasm from the research community to pull subjects and do further studies. Those are the two concerns I have about our future.

ConvergenceRI: How do you make the stories of the families more visible? Is there a way to make a family portrait available to participating families, respecting their privacy needs? A visual image to go with the scientific data?
ANDERS:
Every Tuesday, we have our operations meeting to chart progress and generate ideas. Last Tuesday, we talked about incentives. We talked about magnets, we talked about t-shirts, we’ve talked about bumper stickers, such as: RI-CART, ask me what it is.

But pictures never came up, and it’s a great idea. It will come up today.

ConvergenceRI: How is RI-CART perceived in the autism community? Is there a sense of family?
ANDERS:
It is a family concept to me, not only that your family participates, but that RI-CART is a family. We’ve had some events, one at Bradley, where all the families who have been enrolled in the registry were invited, with the researchers.

We’ve been present when the Autism Project had its annual fun run. We do have a RI-CART t-shirt.

Belonging is not just because you have a disability, but belonging is about having privileges – that’s the idea that we have to get across.

Usually, [when families enroll in the registry], the mom comes in with the kid, and the dad doesn’t come, or the siblings don’t come.

For a family portrait, we’d have to go to the home.

I want RI-CART to embrace the community; it’s not just the providers, its parents, and the families.

ConvergenceRI: Moving forward, what are the challenges that RI-CART faces?
ANDERS:
First, to have the Rhode Island research community, at Brown, at URI, at RIC, take advantage of what we have. After that, for the national community of researchers [to use what we are building].

We have that built into our consent form. The ability to provide de-identified data. I guess the biggest payoff is going to come from the genomic studies.

We are trying to especially recruit trios – the participant and two patents, the participant,the parent and a sibling. If we had 2,000 trio sets, with 2,000 family members who have autism, we would actually have 6,000 people with blood samples.

That would be unbelievable [from] a research perspective.

In addition to assessing the child with an ADOS evaluation, we’re also reviewing all of their previous psychological history, adding that to the database, so we’ll have IQ scores, adaptive speech and language assessments, school and educational assessments. We’re in the process of building that piece of the registry [database] right now.

That’s a very rich source of data to be looking at.

For instance, if you want to compare autism, low functioning, with autism, high functioning. Or differences in the occurrence of autism in girls and boys.

Our data set would be a very, very rich source for these kinds of future studies.

If they don’t happen, then there is no purpose for the data registry. That’s what we do are doing it for.

The family perspective
Anna Maria Angelosanto, a single parent with a nine-year-old daughter, Aly, diagnosed with autism, explained that she had never heard of RI-CART or the new registry, but she was eager to participate, with the hope that it would help provide better coordination of services, and more resources for parents and their children.

“This is important,” she told ConvergenceRI. “I want to sign up.” As parents of children on the autism spectrum, she continued, "We don't always know where to turn for new treatment ideas and supports for our children. We feel we have to do our own research. I wish that RI-CART was available to me these past two years."

Getting answers is critical, Angelosanto continued. "No two autistic children are the same,” she said. “What might work for one child on the spectrum might not work for my child."

For much of the last few years, Angelosanto has been caring for her daughter 24/7, as a result of Aly’s being agoraphobic and being afraid of interacting with the outside world, following a bad experience at a school.

Now, Aly is beginning to engage again with the outside world.

Angelosanto said that one of the places where she had found a network of support was from other parents and autism parents' groups on Facebook, where she regularly posts information about her daughter.

"I find I'm no longer so isolated and alone. I find other parents who are going through the same difficulties and we help each other out," she said.

“Parents are going to go their own way,” she continued, talking about the importance of communication. “We’re learning our way through autism.”

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