Sunday, May 30, 2010

Peter Bell of Autism Speaks talks about autism and his son

As readers of this blog know, I spent the latter half of last week at the IMFAR autism science conference. For the first time, my son Cubby accompanied me. He helped my friend Alex Plank, founder of the Wrong Planet website, to interview a number of people.

In this video Peter Bell talks about his son and his views on finding ways to help people who are truly disabled by autism, and want help, while recognizing that some on the spectrum just wish to be left alone.

In the image below, Peter's son Tyler and Alex check out a robot. The female on the right is Heather Knight of Aldebaran Robotics of Paris, France. I did not record the robot's name.

I'm really proud of the work Alex and my son did recording video interviews. Check it out and let me know what you think. In the next week Alex will be editing and uploading several more interviews.

Tuesday, May 25, 2010

Why Genetics Matters in Autism Research

How does genetic research benefit people living with autism today? And why do scientists do autism research on mice? Those are two of the questions I discussed with researchers at this year’s IMFAR autism science conference.

We’ll start with genetics, an area of study that’s often misunderstood . . .

The available evidence suggests that autism has both genetic and environmental components. When you study autistic minds at the cellular level, it’s possible to find many subtle differences between the brain cells and structures of people with autism and our nypical counterparts. Researchers are working hard to look at those differences and why they occur. At first, scientists thought we were born a certain way, but that thinking has evolved. Now most scientists believe our genes give us a predisposition toward something but both genes and the environment shape the final result.

Adding to the complexity of this is that “environment” is a catch-all word for many different things, including the air we breathe, our food, our water, and even the social community where we’re parented and raised. We are truly the product of the genetic material we start with and everything we encounter from that point forward.

Researchers have been cataloging autistic differences for some years now. Essentially, they start with the observable manifestation of a difference (like ignoring the people around you, or failing to communicate in the normal ways) and work backward till they find a possible biological reason why. For example, a first clue might be an area of the brain that’s too large or too small. Research biologists look at smaller and smaller structures until they get to the smallest difference, which might be an error in the DNA code for those cells.

Having found an abnormal part of the brain, and a possible genetic explanation, they now need to test their ideas out. That’s where the mice come in.

You may have read stories about our gene splicing and engineering skills. Genetic engineering has given us many things, from cloned sheep to drought resistant corn. It also gives us a powerful tool to study complex disorders in humans. In these experiments, mice stand in for people.

By introducing the genetic mutations we discover into mice, we are able to observe changes in their brains and even their behavior.

Why mice?

As it happens, mice are uniquely suited for this work. They are genetically very similar to humans, with over 99% similarity in the areas of the brain we’re studying in autism research. Almost every human gene has its analogue in a mouse. Mice are also social animals, making it possible to observe the impact of genetic changes in their behavior. Finally, mice grow fast and are relatively inexpensive to raise.

The human genome has about 3.2 billion base pairs, with about 25,000 actual genes. In a stroke of great fortune for scientists, almost every human gene can be found in a mouse. Mice have fewer base pairs than humans, but their gene count is about the same. Researchers can insert actual human DNA into mice genes, and then breed a population of altered mice for study. This sort of work has been extraordinarily valuable to medical science, giving us insights we just couldn’t get any other way.

When we introduce a human genetic aberration into a mouse we are able to see for sure whether that change introduces a structural change in the mouse’s brain. But more important, we get a chance to learn how such a change impacts the mouse’s behavior. Indeed, we are finding genetic differences that do actually translate into autistic behaviors in mice. For example, some differences make normally social mice totally ignore other mice in a cage. Other differences make the mice wring their “hands” and flap in a pattern of behavior that’s striking similar to human autistic stimming.

Once scientists have a mouse that exhibits a particular autistic trait, it is then possible to experiment with therapies to correct the problems. That’s where we are now with a number of genetic differences associated with autism. We are also able to study the relationship between a genetic difference and the environment with mice.

Some of the best-known examples of this work can already be seen in the grocery store, or the hardware store. Just look at the label warnings that tell you repeated exposure to a certain chemical causes cancer. We see those warning labels on packages everywhere. We identify cancer-causing chemicals by exposing mice to a particular compound and seeing if they develop cancer. In the autism world, researchers have looked at exposure to high levels of lead, mercury, and other chemicals to learn how they affect the developing or developed mouse brain.

One day, thanks to this sort of research, we might have labels that say, “Warning - Exposure to xxxx can cause autism.” There may indeed be environmental toxins that trigger autistic regression in people, and there may be chemicals that make autism like mine worse. If I knew what they were I’d be sure to avoid them – any of us would – but science needs to identify them first.

We know some chemicals are dangerous. Most of us already avoid heavy metals and other known toxins. My concern is that we may find other common but currently ignored compounds that are safe for some people but dangerous to others of us on the spectrum. For many of us, that knowledge cannot come soon enough.

On a hopeful note, we can also try various drugs, some of which can minimize or fix damage that started in the genetic code. For example, researchers have recently found that people with autism have excessive brain plasticity. Plasticity is the ability of your brain to change in response to life circumstances. Plasticity is essential to learn new skills, but too much of it can prevent you from learning much at all, because your mind can’t “take a set.”

We know how to create mice with excess plasticity, and we are now studying the effectiveness of drugs to reduce plasticity in abnormal mice. It’s both safer and faster to try these new drug therapies in mice, because they develop so much faster than humans. That work may – hopefully – lead to promising discoveries that can be tested in humans and perhaps ultimately lead to new therapies for that particular component of autism.

It’s important to keep in mind that we are not creating “autistic mice.” Autism is an extremely complex disorder, to the extent that many people say no two autistic people are the same. What we’re doing is modeling specific autistic differences by finding genetic codes that are associated with them.

That sounds easy, but it’s not. One problem is that a social behavior – like ignoring your fellow mice – might be associated with more than one genetic difference. In humans, we have hundreds or even thousands of subtle differences associated with autism. And no one genetic difference is common to all of us.

That’s why this is such a hard problem to unravel. We can isolate a difference, and even develop a therapy to fix the changes it causes, but that difference may only be present in 1% of the autistic human population. So what do we do for the other 99%? We continue our studies of mice and men, I suppose.

Some people are critical of genetic research in the field of autism, because they fear it may lead to prenatal screening and the abortion of autistic fetuses. I participated in many discussions last week, and I can say with certainty those ideas were not even on the table for the scientists involved.

Others criticize genetic studies because the think (wrongly) that the work won’t benefit anyone living today. However, the stated goal of much of today’s work is indeed to help the current autistic population.

No one can say what the full ramifications of any particular work may be, but I hope they ideas I’ve shared here make the importance of ongoing genetic research clearer. There is indeed a very good possibility that genetic research today will lead to therapies to mitigate certain components of autistic disability well within our lifetimes.

I sure hope so.

This story was originally posted on my Psychology Today blog

Saturday, May 22, 2010

A World of Geeks - IMFAR 2010

Wrong Planet founder Alex Plank and my son on the set where they are making video of conference participants, yesterday afternoon.

* * *

I have observed a lot of scientists at this IMFAR event. Different as they seem on the surface (different sizes, shapes, colors, emission of sounds and smells . . .) they all have this in common: Everyone here wants to find ways to help fix autistic disability. That said, “Fix” means different things to different people, depending upon their special interests.

Some want to find new ways to teach little kids to interact more successfully. Others try to understand why a tiny difference in our genetic code might take away the power of speech. Psychologists test new ideas at Asperger summer camps, while roboticists use animated creatures to teach kids social cooperation. Others look for the reasons some of us have such terrible trouble with our innards and digestion. And I can’t forget the public health people, who ask why different ethnic groups have different rates of autism diagnosis, and who reshape our screening tools to work across different cultures.

I have listened to countless presentations about all those topics and more these past few days, and many people have sought me out to tell me about their projects one on one.

Everyone I see here is absolutely united in pursuit of this one goal: helping people with autism live better lives. Each one has their own unique approach, but the underlying drive is unmistakably the same.

And it’s not just the scientists who are driven in this way. There are people here who bring the same drive to fundraising to support the scientists, or to public relations to tell the world what’s going on.

You or I may disagree with some of the science, or how the PR people present it, but after talking to all these folks there is no question in my mind that their hearts are in the right place.

That summary pretty much describes all these folks on a professional level. These are not nine to five workers. There lives do indeed revolve around the unraveling of their individual bit of the autism puzzle. There is no talk of "cure" here. Instead, there is talk of Autisms, with an "s" at the end, and a recognition that the more we know, the more complex the issues become. There are some problems science will probably solve in the next few years but this isn't one of them. That said, we are making great strides toward reducing the impact of the most debilitating aspects of autism, and I expect the pace of progress to pick up. It's just we have so far to go . . .

What about the personal lives of the doctors, scientists, and other non-autistic denizens of this world? That is an interesting question . . . one I have looked into with some curiosity.

I think all the people in attendance here recognize the challenges autistic people face in one area or another of their lives. That’s what makes them want to help. At the same time, I see a tremendous appreciation of the unique gifts autistic people bring to the world. Indeed, these folks surround themselves with autistic people in their personal lives. At first I thought that might be accidental, but now I see it’s deliberate, even if it’s at the subconscious level.

Many are married to geeks, or have kids on the spectrum, or seek to marry a geek or geekette. I have seen that particular scenario play itself out time and again these past few evenings in the after hours get-togethers.

In closing, I will offer you this essential truth derived from my careful observation of my own Cubby, Alex Plank, and other young spectrumites in attendance here:

If you are a female entering this world, be forewarned that it is a one-way trip. For once you Go Geek, there is no turning back. It only takes one date with an eccentric scientist or engineer – after that, an ordinary banker or business person will never do . . .

After all, what kind of girl would choose a common movie for a first date, when presented alternatives like flying a remote control helicopter or visiting a Server Farm in Maryland? I was reminded of the time a few years ago when I asked my friend Celeste what she saw in her Geek husband. "He's just the most interesting person I ever met," was what she said, without a single second of hesitation.

That is the essential reason that autism has been evolved and been with humanity forever. Even though many don’t know it, and some never find social success, Geeks are essentially endearing and appealing. We certainly have our problems and our challenges, but at the same time there is an innocence; a sweetness and an appeal that ensures a certain part of the population will always be there for us at many levels. I saw that most clearly in the people I’ve seen here.

Tuesday, May 11, 2010

What happens to autistic kids when they grow up?

What happens to autistic kids when they grow up? Does a kid with substantial verbal impairment have a decent shot at growing up to have a family or a job? Does quality of life get better, worse, or stay the same? What kinds of support or services do middle aged people with autism need? What do they get? Are they happy?

Psychiatrist William McMahon of the University of Utah is embarking on an ambitious three-year study to get some of those answers. His pilot project should give parents real cause for hope – ten percent of his pilot group went from being very impaired children to pretty successful adults over a twenty-five year span. A significant number of disabled autistic kids grew up to have families, jobs and a self-described decent quality of life. Most people in the pilot study got better – not worse – with age.

This study had its genesis in the 1980s when Dr. McMahon worked with Dr. Ed Ritvo to study several hundred young people with autism. This population was recruited in Utah and included 241 people with the more severe DSM III autism, and 130 people with less severe autism; more in line with current DSM IV criteria.

The 371 people ranged in age from 3 to 21. The original study ran over several years from the mid to late 1980s.

Today, Dr. McMahon is tracking down those original participants in hopes that they will join him in his next phase of research, to learn what happens to autistic people as we age. These adults – ranging from 30 to 50 years in age – will give us the most comprehensive picture to date of how autism impacts people from childhood through middle age. His pilot study – completed last year – suggests he’ll be able to find about 75% of the original group.

His original study population contained the full range of autistic affect, from non verbal people to verbal Aspergians like me. I can’t wait to see what he finds out. I feel like I’ve gotten better as I’ve aged. For me, coping skills have masked most of my autistic disabilities. Is that the rule or the exception? His pilot study did find others like me, with lifelong improvement and good quality of adult life. However, he also found people who plateaued in their teen years, and a few people who actually declined with age.

What’s the norm? And what can we do to shift from childhood disability toward adult success? I hope Dr. McMahon’s work yields insights that we can use for today’s kids. Can we figure out what made some autistic people really successful while others kind of floundered, even though they started from similar places? I hope so.

Dr. McMahon also hopes to identify autistic subtypes and perhaps gain some insight into how those groups may benefit from different approaches to life success. We’ve all heard the adage that what works for you may not work for me, but no one ever studied the reasons why.

Quality of life and social success is a big focus of this research, but they’re also examining general health and other autism related conditions – the stuff doctors call co-morbid conditions. Does a kid with intolerance for wheat or milk outgrow that, or does it linger for life?

I wish we could answer broader health questions too. Are autistic people more at risk for cancer, diabetes, or heart disease? Unfortunately, this sample size is too small for definitive answers in that regard. But it’s a start, and a very important piece of work.

I’ve spoken publicly about the need for this kind of research, and I’m pleased that Autism Speaks is supporting Dr. McMahon with a $450,000 grant. This is an example of important and valuable research that will lead to tangible benefits for people living with autism today. This work will surely lead to other studies; a few answers and a lot more questions. As a middle aged person with autism this research is certainly close to my heart. I hope you will support it too.

Here's a link to Dr. McMahon at the University of Utah

John Elder Robison is an autistic adult and advocate for people with neurological differences.  He's the author of Look Me in the Eye, Be Different, Raising Cubby, and the forthcoming Switched On. He serves on the Interagency Autism Coordinating Committee of the US Dept of Health and Human Services and many other autism-related boards. He's co-founder of the TCS Auto Program (A school for teens with developmental challenges) and he’s the Neurodiversity Scholar in Residence at the College of William & Mary in Williamsburg, Virginia.  The opinions expressed here are his own.  There is no warranty expressed or implied.  While reading this essay may give you food for thought, actually printing and eating it may make you sick.