Friday, April 9, 2010

Some new autism research is funded . . .

Autism Speaks has announced the funding of five million dollars in new research. In this and my next few blog posts, I’ll describe the research and why it’s important. The five million dollars is allocated over sixteen different grants. Two of them are described here.

I’d like to begin by quoting part of the Autism Speaks release:

Novel directions in early detection of autism

Two studies to be funded are focused on developing new methods for very early detection of ASD. The first will validate a simple questionnaire that can be used by pediatricians to screen for ASD in one year-old babies (Using Parent Report to Identify Infants Who Are at Risk for Autism Spectrum Disorder (ASD) James Resnick, M.D., UNC at Chapel Hill). The second by Sabine Bahn, M.D., Ph.D., MRCPsych, Institute of Biotechnology, University of Cambridge will search for biomarkers for ASD by analyzing blood samples using a newly-developed technology platform called xMAP to identify a panel of proteins that can serve as diagnostic biomarkers for ASD (Biomarkers and Diagnostics for ASD)

Countless studies have shown us that early intervention is the best way to get a good outcome with most autism. No matter what level of autistic impairment you have, the sooner you start working on it, the better off you are. My own life experience has made that crystal clear. So how do we do that?

Right now one of the best early screening tools we have is called M-CHAT. It’s a quiz pediatricians give to parents of toddlers. The answers add up to a score that can cause the pediatrician to refer a tyke for evaluation and further testing – the first step down the diagnostic road.

M-CHAT is good, but by itself, it’s not enough. First of all, it is only one component of a multi-step diagnostic solution. Second, its effectiveness varies in different cultures. A behavior that may seem abnormal to a Vietnamese mom might seem ordinary to a Mexican parent.

But the biggest weakness of M-CHAT is that it starts too late by focusing on toddlers. Scientists are working hard to develop screening tools that will pick up early signs of autism in infants, and that’s what one of these studies aims to do. They are developing a questionnaire like M-CHAT, but for use with parents of infants.

I wil never forget the first time I read the M-CHAT questions. I looked at that simple sheet, and I thought to myself, This thing would have picked up autism in me and my son Cubby in an instant. If only we had known . . . How might our lives have been different, if we'd had that insight so long ago?

I am really excited about the prospects for detecting and remediating autism in infants. Such detection will present us a unique opportunity. You see, the infant brain is at its most plastic and formable. If we could accurately identify those kids who were turning down an autistic path at age one, I think we’d have a good chance of steering many of them back to a typically developing course.

The older we get as children, the more fixed parts of our brains become, and the more we become set in our differences. That’s not to say we can’t improve, grow, or change throughout life. It’s simply that there is a one-time opportunity in early childhood, and many if not most autistic kids miss that chance today because it passes with parents unaware, or only vaguely aware.

The second study – the biomarker study – aims to detect autism though blood tests. At this moment, that seems like a farfetched idea but remember how many things we DO detect through blood testing today, and how farfetched many of them would have seemed to our grandparent’s generation.

The advantage of blood tests is that they are more culture-independent. Their results are not affected by the language of the test subject or the tester. They are not affected by demographic differences, either. It’s almost always preferable to have a hard scientific measurement like this, if you can get it. The problem is, these tests are terribly hard to develop. This particular piece of research won’t take us all the way, but it may well be an important step on a journey we will complete at some point in the future.

The majority of the money Autism Speaks raises is spent on research. Projects like these are important, necessary, and a good use of research dollars, in my opinion. If I helped raise money at a Walk last year, and a few of my dollars ended up with these scientists, I’d feel pretty good about that.

But they are only one piece of a terribly complex puzzle. Once you identify signs of autism in an infant, what do you do? Do you use as-yet undeveloped behavioral therapies? Can medications change the course of brain development in infants in a good way? What other options do we have to improve the outcome of the next generation of kids on the spectrum?

And there’s an even more important question. How do we know which kids need intervention, and at what level? Readers of this blog know I’ve participated in some studies that use TMS to measure brain plasticity as a marker for autism. In the early analysis of those results, scientists can separate autistic from neurotypical people, but the marker is not at all predictive of autistic disability or gift.

That’s the hidden danger of infant testing and treatment. On the one hand, we know that people with serious autistic impairment respond really well the earlier we intervene with existing therapies. But what about some of the more powerful experimental therapies being studied today? If applied to a person who faced permanent disability, the result may well be all to the good. But how would a less imparted person like me be affected, if altered as a child? In our quest to cure profound disability, we must always recognize the gifts that may be concealed within otherwise crippling conditions, and work to remediate the disability without extinguishing that creative fire.

It’s going to be a hard balance to find and keep. The earlier we start to treat autism – however we do it – the less we are able to quantify the scope of impairments that individual may have or develop.

I wish I could offer answers, and not more questions. But I can’t; none of us can. Still, I can understand the importance of early detection, and I support studies that push the foundries of detection farther back into infancy. The question of what we do with the knowledge – once we get it – remains for the future.

6 comments:

Nathan said...

I have your book in front of me... it really opened my eyes to my son. A great book!

I would like some type of a blood draw to say that my son is autistic. There are so many variables.

Early detection is good... I knew my son wasn't right early on... but the doc's kept saying oh I don't see that... or when has he started having nightmares (like I hadn't said it for the last 3 times we came in).

The doc's I think are the problem... by the time he was to be diagnosed, when they finally said yeah you need help I was very pg with my daughter... And I also gave up on that doc and went to his partner who is way better.

I didn't get him true help until he was 5 when he was diagnosed. I'm still upset about that... he's 7.5 and a handful.

Also, I think there should be some federal or state help... automatic help. We make just enough to not get help and we can't pay for him to get help.

Luckily his first 5 years of life I worked like heck with him. So he can be a very sweet boy... but when we had my daughter I can't do so much with him anymore and I get very frustrated like my mom.

Anyone with a child with disability should be aloud extra help with or without the income.

Sorry... went over board here.

Angela (I signed in with my son's account)

coolcoder.org said...

Love your book!
Did you hear about the coming changes to the DSM-5 regarding aspergers - if I understand, they are removing aspergers?
MORE HERE

Ray said...

Very interesting stuff. I agree completely - early detection and therapy will only serve as benefits for the children today that a lot of us didn't get in the past.

Another significant problem, as voiced by Angela above, is having qualified and trained doctors who can recognize and more quickly refer infants for further evaluation. If ASD is becoming as prevalent as the medical community believes (1 in 100 children at last calculation), then why haven't the pediatricians and child psychologists in that field been more proactive at early testing? It seems like this responsibility has been left up to researchers far removed from the family-oriented setting of a pediatrician's office. If they see certain signs at the infant level, then they need to step up and tell the parents!

No more status quo and rushing one child out the office to let in the next one. No more ignoring the parents' concerns; yes, they may have invested years and hundreds of thousands of dollars into their education, but parents see their children for the vast majority of every day - not just an hour or two a month. If the parents have a legitimate concern, no matter how small, then the doctor need to listen.

Bonnie said...

It took almost two years for us to receive a diagnosis of autism. Then we had to fight for ABA, I regret the time we wasted trying to figure out what was wrong and find help.

The goal for us is improving the quality of life for my son. So, what we try to do everyday is work on developing his abilities. We are trying to prepare him for an independent fulfilling life, not change his personality or curb his passions.

With that said, I love who my son is becoming, he’s interesting and funny. I don’t want to change his personality or “normalize” him. I want him to feel proud of who he is and I want the world to understand that he is capable of a lot. He needs understanding and some accommodations, what he doesn’t need is pity, or to feel like he is damaged goods.

Amanda said...

Dear John;

Thank you so much for the work you do to make people on the AS more understandable, more acceptable by their peers, families and themselves. I have two boys on the spectrum; one "lightly dusted" and the other much further into the spectrum. We have taught them from day one that this is who they are, and we rejoice in them as all parents do. I like the term "neurotypical" because it labels US and not them. We all look forward to more of your work. Thank you.

Aimee Conner
Portland, Oregon

Robin said...

Thanks a lot for this post - it's great. I started suspecting autism in my son at 7 months, spent hours doing research about it, etc. He's 3 years and we just now finally got the actual diagnosis. We kept being told that he didn't have it, and even one said that I "wanted him" to have it. We really need to change the attitude and knowledge of the medical community. Like the other posters I lost a couple of years. He was in EI, which was fantastic, but it focused more on specific skills like speech and not developmental skills.