Dr. Kliman: The brain is completely unformed at birth. It is basically a clean slate, so you are able to do things with a young child that you cannot do later. It gets to the point where the brain is so wired and formed that it is hard to change behaviors. For example, people know that young children can learn multiple languages. If you have a family that has a French speaker and an English speaker, and they teach both languages to a young child, the child can actually learn both languages. I can tell you, at this point, I could never do that. My brain is too set, and the older you get the more difficult it is to make changes. So knowing at birth really gives us a golden opportunity to have the best positive potential outcome for these children.
So, just help me here, how significant is that because there is no cure for autism. People, who are diagnosed, if that is the correct term with autism, live with that for their life and there are obviously therapies, etc. to try and help them. So, what is the significance of this?
Dr. Kliman: That is a great question and while it is true that the genetic basis for what causes autism is in these people, if we have early intervention, we can help these children become socialized, so they can fit in to the point where we cannot even tell that they have any condition. Let me also point something out, people have said to me, ‘can this test be used for prenatal diagnosis, diagnosis before delivery, because maybe a family would want to terminate a pregnancy.’ And I am completely against that. The reason is, is that these children are exceptional. Many of them are very smart. There are many professors with autism at MIT right now. When we look at Google and Facebook and Microsoft, and maybe even Apple computer, we are talking about people who are brilliant; who are very creative, but they are not quite adapted to social interactions. They are not as empathetic as a normal person might be for example. If we can train children early to respond to someone being upset, or someone being hurt, we can take someone who is exceptional, and actually very smart, with spatial recognition and mathematics, and things like that, and have them be happier. That is why I think it is so important to make this diagnosis early to give these children, and then adults, the best chance possible to be productive members of our society.
What about the gender difference, because autism affects one gender more than the other, doesn’t it?
Dr. Kliman: Well that is a very interesting question. Boys are much more commonly affected by autism than girls. I think it is 4 to 5 times the frequency. We do not quite understand that. Early on in my studies, I wanted to know is there a difference in the folding pattern between the girls and the boys in the at-risk group and they are the same. So, basically, once you are in the at-risk group, boys and girls seem to be about the same in those families, but why particular families are affected and why boys have it more often, we are really not sure at this point.
Where does the research go from here because like anything, it often is a springboard into something else, so where do you go from here doctor?
Dr. Kliman: There are two aspects that I am interested in. First of all, we need to see the outcomes of all the children in the at-risk group that we looked at from the University of California at Davis. Their study is called the MARBLES Study and that is where these patients came from. We have another year or two or maybe even three before we get all the final diagnoses. However, the early indications are that these children from these at-risk families do not just have autism, but they have other neurodevelopmental conditions for example, obsessive compulsive disorder, ADHD, attention deficit disorder hyperactivity; so it is probably going to be a broader umbrella of what these children have besides just autism, so one thing is to see what happens to the children.
And the second?
Dr. Kliman: The second avenue that I am interested in is trying to understand the basic biology. We still have these specimens and the nice thing is that we can actually look at them and ask simple questions of why are the placentas in the at-risk group different than the controls and we have some markers that we are looking at. Maybe by studying those, we will understand what the basis is for this. The third avenue is what we talked about before a little bit, what can we do to change the lives of these children and I have now engaged with a number of Centers both locally and nationally and I am going to meet with some in London, when I go there in a few weeks, to see what we can do about early intervention. Nobody has created a framework for dealing with newborns in terms of this diagnosis. So this is a completely uncharted area. I think that is an exciting avenue too; to help the people who do therapy for older children; showing them how they can apply it to younger ages.
Is the test available now? Can parents, who just had a baby able to participate?
Dr. Kliman: The ideal time to do the PlacentASD test is at the time of delivery. The plan is, is that when a family is pregnant; they will actually sign up for this test. We will send them a box, where they can send the placenta back to us here at our lab at Yale, and at the time of delivery, the placenta will be put in a container, snapped closed, sealed, and shipped to our laboratory. Once there we will cut it up, process it, and look to see if it is abnormal or normal. However, there are families that already have a child, maybe the child is 3 or 4 or 10 and they might be interested to know if their child has the same marker; in that case, we can go backwards if the placenta was sent to the local pathology department; if the slides exist in drawers in those pathology labs, we can also look at them.
What is the main thing you deal with parents with an autistic child?
Dr. Kliman: One of the things I deal with a lot with families is guilt; and one thing I need to make clear is it is nobody’s fault that your child has autism. This is not caused by anything a mother does during her pregnancy. It is not caused by vaccines. It is not caused by the diet or anything else that someone might do; most likely the major component is genetic with a potential small component of the environment. I think the main component is genetic and given that, there is really nothing that the parents could have done to prevent it. So sometimes simply doing this test to help them deal with the guilt, they may have, is a useful way to approach it.
How exciting is all of this, not only for you as part of the research team, but for people in general?
Dr. Kliman: I am very excited. I mean, I have been working as an MD/PhD for 35 years now doing various aspects of research. I have been happy and proud of many of my contributions, but this one feels very special to me, because I think this one has the potential to affect many, many children to improve their life outcomes and I hope improve society.
FOR MORE INFORMATION, PLEASE CONTACT:
Harvey J. Kliman, MD, PhD