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New Findings on Sensory Overload: A First-Person Perspective

February 2, 2012 15 comments

Guest blog post from Autism Speaks Science Board Member John Elder Robison, author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventures of a Free-Range Aspergian

According to a press release I received this morning, new research from Cold Spring Harbor Lab might help explain how a gene mutation found in some autistic individuals leads to difficulties in processing auditory cues and paying spatial attention to sound. [Editor’s note: See our related science news story on this Autism Speaks-funded study.]

The study found that when a gene called PTEN is deleted from auditory cortical neurons—the main workhorses of the brain’s sound-processing center—the signals that these neurons receive from local as well as long-distance sources are strengthened beyond normal levels.  That’s the first interesting part of the study.

PTEN has been associated with autism in a number of previous studies. In particular, the PTEN variation has been found in autistic people with larger heads, and it’s suspected as a cause of both additional connectivity in the brain and additional brain cell growth.

How many of today’s autism population have a PTEN variation?  Do you?  No one knows.  It’s one of many genes researchers are studying.

What I do know is that I have abnormal sensitivity to sound, as do many autistic people. Many of us are easily overwhelmed by noises that go unremarked by the rest of the population. For some time, I have realized my excess sensitivity is a two-edged sword. On the one hand, it gave me powerful insight into music and facilitated my earlier career in rock and roll. On the other hand, it has often put me at a disadvantage as I’m rendered inoperative by what others see as ordinary situations.

It’s interesting to read that PTEN may be a cause of that difference. Understanding the genetic foundation of why that happens doesn’t do me much good, but the next part of the study might:

Researchers found that those can be blocked by rapamycin, a drug currently in use as an immunosuppressant. Rapamycin as an autism therapy has been studied before and found beneficial in some cases. This study is one of the first that sheds light on “why” and speaks to a specific mechanism by which we may be disabled.

Now that I’ve come to know many people on the spectrum, I realize I am one of a fortunate few who have significant sensory sensitivity without being disabled by it.  The vast majority of autistic people who write about sensitivity do so in the context of disability. If there were a way to reduce sensory overload, I’m sure a number of folks on the spectrum today would like to hear about it.

One next step might be to see if rapamycin has the same effect in humans, and what other unforeseen effects it may have. Rapamycin has already been tried as a therapy in other contexts relating to autism. A targeted study that looked at the drug’s effect specifically on sensory overload would be very interesting.

It’s possible that this research illustrates a first step on the path to remediating a specific component of disability for many people on the spectrum. Much more testing will be needed to really know if that’s true, but it looks like a promising start.

My biggest concern is that rapamycin may have unforeseen effects elsewhere in the brain, and we won’t be able to understand that until we have conducted a sizeable human trial. We can only do so much by observing and extrapolating from mice.

An interesting aside is that Dr. Zador’s research further supports the emerging idea that excessive brain plasticity is a key component of the brain differences that lead to autism. His research premise is that the PTEN variation causes excess connectivity, and connectivity is a key element of plasticity. I’ve written about that idea in earlier posts.

I read a lot of talk in the autism community that questions why we spend money on genetic research when today’s autistic population needs help now. There is a popular perception that genetic research can only benefit unborn generations, or even worse, be used as a tool for selective abortion.

Dr. Zador’s study shows a clear pathway from a basic genetic study to a possible therapy for autistic people today, if they suffer sensory overload issues. It’s a perfect example of why this kind of work continues to be important and needs to be funded alongside all our other efforts in the autism research arena.

One of the pathways regulated by the PTEN protein involves shutting down an intracellular enzyme called mTORC1, which promotes cell growth, among other things…. While Zador is excited about “this finding that suggests that mTORC1 could be a good therapeutic target for some cases of PTEN-mediated brain disorders,” he is also keen to further pursue his team’s new evidence that cortical hyperconnectivity could be the “final pathway” by which diverse ASD genetic pathways lead to a single ASD phenotype. “Using cortical connectivity as a paradigm for assessing ASD candidate genes could provide insights into the mechanisms of the disorders and perhaps even give us clues to formulate new therapeutic strategies,” he states.

Dr. Zador’s leap from a subtle variation in genetic code to a specific behavioral aberration represents a brilliant leap of intuition and reason, backed up with careful lab work. It’s the kind of result I hope to see when I cast my vote for further genetic studies. This work was originally funded by Autism Speaks and NIH four years ago.

Here’s another really fascinating point to ponder. The PTEN genetic variation has been already associated with certain people with severe autistic disability and people with tubular sclerosis. Now, by associating PTEN with auditory sensitivity, we confront the question:  Do people like me have the PTEN difference too?  No one knows, because that study has never been done.

I’ll just say one more thing in closing. The discovery that PTEN aberrations can lead to sensory overload, and the pathway by which that happens stands separate from any question about rapamycin as a therapy. Don’t let worries about a particular drug blind you to the significance of the first finding.

Other researchers are looking at alternate ways to affect cortical plasticity in general and even connectivity as described in this study.  Rapamycin may end up being a therapeutic answer for some, but it’s equally possible that a better therapy will be developed now that we are beginning to unravel the underlying issues. One day, autistic people who are disabled by auditory overload may be able to “mute” the disability, while retaining enough sensitivity to be exceptional.

That, folks, is what the science is all about.

Autism in the Family – More Common Than We Thought

August 16, 2011 43 comments

This is a guest blog post from Autism Speaks Science Board member John Elder Robison, author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventures of a Free-Range Aspergian.

This morning I read a striking a new study which addressed the question of autism in siblings – how common is it?  The findings will be of vital interest to many; most especially young families with an autistic infant.
Earlier studies and “conventional wisdom” suggested the incidence of autism in siblings was in the 3-10% range.  This new study shows those numbers to be very far from the mark.
Scientists in this new study found autism in 19 percent of the younger siblings.  High as that seems the incidence is even higher in families with two or more autistic kids.  In that case, a new sibling’s chances of being autistic rose to more than 32 percent.
Being a boy makes a difference too.  “Only” 9% of girl siblings were autistic, as compared to 26% of boys.  I found this difference quite interesting because I often wonder if autism is under-diagnosed in females.  In this study, all the kids were screened with the gold-standard ADOS or ADIR tests prior to age three.  So even with top-notch screening, we still have more autistic boys.
Those are some strikingly high percentages.  As high as they are, and knowing autism is a spectrum condition, I have to wonder how many non-diagnosed siblings will eventually turn out to have less severe but still noticeable “differences.”
There were a few more points I found interesting.  First of all, the IQ of the child did not predict anything.  Neither did severity of autism, as defined by the ADOS diagnostic scales.  So your odds of having a second autistic kid are higher, but those odds and knowledge of the first kid don’t combine to give any insight into how a second kid might end up.
The conclusion is inescapable:  autism does run in families.  According to these findings, the more autistic kids you have, the more you are likely to keep having.
We talk about autism having both genetic and environmental components.  This study, with 664 infants distributed all over the country, shows a very powerful genetic component.  That certainly does not diminish the role of environment, but it’s sobering.
I predict the results of this study will have a profound impact on family planning, because it casts parents’ chances of having a second or third child with autism in a strikingly different light that any previous study.
We already know (from other studies) that many parents stop having children when their first child receives an ASD diagnosis.  This new finding may significantly reinforce that tendency.
Read the study yourself at this link.
The study involved 664 infants from 12 U.S. and Canadian sites, evaluated as early as 6 months of age and followed until age 36 months.  Kids with previously identified autism-related genetic factors such as Fragile X were excluded from the study group.
“It’s important to recognize that these are estimates that are averaged across all of the families. So, for some families, the risk will be greater than 18.7 percent, and for other families it would be less than 18.7 percent,” said Sally Ozonoff, Ph.D., professor of psychiatry and behavioral sciences at the MIND Institute and the study’s lead author. “At the present time, unfortunately, we do not know how to estimate an individual family’s actual risk.”
This study was based on data from the Autism Speaks High Risk Baby Siblings Research Consortium (BSRC) and led by investigators from the UC Davis MIND Institute.
Your correspondent (John Elder Robison) is a member of the Science Board of Autism Speaks, one of the organizations who funded the work.

Accommodation

June 17, 2011 7 comments

This is a guest blog post from Autism Speaks Science Board member John Elder Robison, author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventured of a Free-Range Aspergian.

Should we change, or should others change for us?  Should workplaces change for us?

We (by we, I mean anyone) must be able to present ourselves in such a way that the people we engage think we are nice/interesting/capable or whatever they need to continue the interaction.  If we fail to do that, we will not move forward in a relationship with that person.  That may mean we don’t make a friend, or we don’t get a job, or we don’t get admitted to a school. Whatever it is, it’s a lost opportunity.

Obviously no one can succeed with every engagement of another person, but each of us must look at our total tries, and our success rate.  If the success rate is low, we have to ask ourselves why.

In my last post, I talked briefly about Asperger people who fail to get jobs for whatever reason, and then allege discrimination.  Some neurodiversity voices ask for an end to that discrimination, and for greater acceptance.

I have asked for greater acceptance myself.  I think that is a noble goal, but not one we will see attained anytime soon.  When I look at how I was treated in childhood, how my 21-year old son grew up, and what I see today I see some change but not much.  It leads me to wonder how much acceptance and accommodation we might reasonably expect.

I think what happens is that the philosophical desire for more broadminded treatment flies in the face of evolutionary human development.  We have thousands of years of experience that tells us a person acting a certain way is a bad person; a threat.  We are conditioned to reject people who exhibit those behaviors.  What arethose behaviors, you ask?   There is no single, simple answer.  We just seem to be programmed to pick up certain unspoken cues and interpret them that way.

The problem folks like me have is that our Asperger’s causes us to exhibit innocent but non standard behaviors that get interpreted as bad.  I’ve written on this before, urging people to think twice when a person says or does something unexpected.  I think that works in some situations, especially with people who are exposed to kids with differences or AS in the family. For the great majority of people, though, the message does not get through or it gets ignored.

That’s why I say we are 1% of the population and we can’t expect the other 99% to change for us.  Laudable as the goal of change may be, they just don’t care.  Note than I am not saying the 99% are normal and we are abnormal. I understand the 99% have many issues of their own.  I’m just observing that the odds are stacked very heavily against us, when it comes to getting them to change in all their collective diversity, indifference, ignorance, and whatever else.
What about discrimination?  I won’t say there are not people who discriminate against autistic people.  I’m sure there are.  That said, when we fail to get a job or make a friend, I still maintain that failure usually stems from our behavior (unexpected or unacceptable), and not from arbitrary discrimination against the underlying cause (Asperger’s.)
I cannot control what other people think about “my kind.”  Prejudice or discrimination is something I cannot change, and frankly, I would not want to do it for my benefit through force of law.  Why?  Because if someone does not want me around, that is enough.  I am out of there.  I am not going to stay where I am not wanted.
I want to be in control of my life.  That means I work on changing my behavior as needed to fit in.  I have full control of my actions, so I know success is achievable for me by that route.  I don’t wait around for others to change, because that is frustrating and often unsuccessful.
What about accommodation for sensory issues?  Several people asked my thoughts on that.  Examples might be moving to a quieter work cubicle, or getting different lighting.  I think many sensory accommodations are reasonable and doable for employers.  I am absolutely in favor of any subtle changes in the workplace that make folks like us more comfortable.
At the same time, I recognize that kind of accommodation has its limits.  If the accommodation would require major changes in the workplace, and that same workplace is acceptable to everyone else, I’d get a different job.  But that’s just me.  Through my life I have chosen to vote with my feet in situations like that.  Others would fight for change and I can respect that, even though I would not do it myself.
In our society, we have chosen to let government dictate the tradeoffs by which some people are inconvenienced for the benefit of people with disabilities.  An example of that would be handicap parking spaces.  By having those spaces we allow those who need them to access facilities they could not otherwise visit. But the non-handicapped person who needs a space pays a price for that accommodation even as it sits unused and he has nowhere to park.
Disability rights advocates fight those battles on many fronts.  I applaud their efforts and successes, but I do not wait for such accommodations to improve my own life.  Since I want action now, I make my own way as best I can.  That is the sometimes hard reality we all face, every day.  We can hope and work for societal change, but we still have the chance to make the best of the life we have today, because today will never come again and I don’t want to spend it waiting.  I want to be acting.

John Robison Discusses IMFAR Technology Demonstration with Alex Plank at IMFAR

Autism Speaks Science Board member John Elder Robison is the author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventured of a Free-Range Aspergian. You find out more about his IMFAR experience, here, here, and here.

Alex Plank, an autistic adult who founded the online community Wrong Planet. Alex is a graduate of George Mason University. You can see more of Alex on his Wrong Planet YouTube channel.

To find out more about ‘Innovative Technology for Autism’ visit here.

You say Tomato, I say TomAHto

May 13, 2011 8 comments

This is a guest blog post from Autism Speaks Science Board member John Elder Robison, author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventured of a Free-Range Aspergian.

Yesterday I listened to a very interesting talk from Catherine Lord, Ph.D., one of the creators of the ADOS test. ADOS is the “gold standard” in the world of autism diagnosis, and she’s a leading figure in the world of autism testing and evaluation, so I jumped at the chance to hear her thoughts on where we’re headed in that regard.

People who receive an autism diagnosis are told they have one of three conditions: Autism, Asperger’s, or PDD-NOS. The big question is: who should be diagnosed with what?  Is there a coherent sense of classification, or is it merely arbitrary or random? She reviewed the diagnostic data for several thousand spectrumites in an effort to determine what caused a person to end up in one of those three categories.

To her surprise, after analyzing the data, she found the principal predictive factor had nothing to do with the individual. Looking at records from a number of good university hospitals, she found places who called almost everyone Asperger, and other places where everyone was PDD-NOS. There was no discernible pattern of variation between individuals; they seemed to simply get different diagnoses in different places.

Was there more to the story?

To answer that, she looked at other factors, like IQ. For example, many people call Asperger’s “autism lite” or “high IQ autism.” Her review of Asperger diagnoses at one Ivy League school bore that out, with their Asperger kids having average IQ of 123. However, other doctors must see Asperger’s differently, because a Midwest clinic in the study has an average Asperger IQ of 85.

She looked at quality of language in older kids and found similar ambiguity. In the final analysis she did not find any consistent measures of the individuals themselves that led to one label or the other being applied.

In my opinion, those findings support the argument that there is no consistent standard that sets the three descriptive terms for autisms apart. A difference at one point becomes invisible at another. For example, you could say four-year-old Mike does not talk so he’s autistic and Jimmy talks up a storm so he’s Aspergers. But what happens when both kids are 10 and they look and sound the same? Were the differences justified? What purpose might they serve by their difference?

Her findings made one more strong argument for combining all autism diagnoses under the heading of autism spectrum disorder, with a described range of disability or affect.

That’s the way things seem to be headed for the next DSM.

At the same time, Dr. Lord expressed concern that many people have a strong personal investment in one diagnostic name or the other, and they should be able to keep using the different terms.

Stay tuned for more tomorrow from IMFAR 2011.

Sneak Peek at ‘BE DIFFERENT’ by John Elder Robison

March 15, 2011 6 comments

Catch up with John Robison and his new book, BE DIFFERENT

March 14, 2011 7 comments

John Elder Robison‘s new book  Be Different will be available on March 22nd. In Be Different, Robison shares a new batch of endearing stories about his childhood, adolescence, and young adult years, giving the reader a rare window into the Aspergian mind.

John will be traveling the country to promote his book and could be making a special appearance in a town near you! Here is his tour schedule – we hope to see you there!

Monday, March 28th                                                                                  New York, N.Y.
7:00pm

VenueBarnes & Noble Tribeca
97 Warren St.
New York, N.Y. 10007

Thursday, March 31st                                                                             Framingham, Mass.
7:00pm

Venue: Barnes & Noble
1 Worcester Rd
Framingham, Mass. 01701

Sunday, April 3rd                                                                                North Hampton, Mass.
2:00 pm

Venue: Smith College
Stoddard Hall
7 College Lane
Northampton, Mass. 01063

Tuesday, April 5th                                                                                        Rockville, Md.
7:00pm

Venue: Ivymount School Auditorium
11614 Seven Locks Rd
Rockville, Md. 20854

*There is limited space so reservations must be made www.ivymount.org/asperger

Wednesday, April 6th                                                                                   Houston, Texas
7:00pm

Venue: B&N River Oaks
2030 W. Gray Street
Houston, Texas 77019

Saturday, April 9th                                                                                           Nashville, Tenn.
9:00am

Venue: Westminster Presbyterian Church
3900 West End. Ave.
Nashville, Tenn.

Wednesday, April 13th                                                                                       Boulder, Colo.
7:30pm

Venue: Boulder Bookstore
1107 Pearl St.
Boulder, Colo. 80302

Thursday, April 14th                                                                                           Denver, Colo.
7:3opm

Venue: Tattered Cover
2526 East Colfax Avenue at
Elizabeth Street
Denver, Colo.

Saturday, April 16th                                                                                    Burlington, Mass.
2:00pm

Venue: Barnes and Noble
98 Middlesex Turnpike
Burlington, Mass.

Tuesday, April 19                                                                                     San Francisco, Calif.
7:0opm

Venue: Books Inc.- Opera Plaza
601 Van Ness
San Francisco, Calif. 94102

Wednesday, April 20th                                                                                  Portland, Ore.
7:30pm

Venue: Powell’s- Downtown
1005 W. Burnside
Portland, Ore.

Thursday, April 21st                                                                                         Seattle, Wash.
7:00pm

Venue: Third Place Books
17171 Bothell Way NE
Lake Forest Park, Wash.

Tuesday, April 26th                                                                                    Madison, Conn.
7:00pm

Venue: R.J. Julia Booksellers
768 Boston Post Rd.
Madison, Conn.

Thursday, April 28th                                                                                     Chicopee, Mass.
7:00pm

Venue: Elms College
Veritas Auditorium
291 Springfield Street
Chicopee, Mass.

Saturday, April 30th                                                                                        Dothan, Ala.
Keynote Speaker                                                                            CEU Conference
8:15am-1:30pm

Venue: Wallace College
1141 Wallace Drive
Cherry Hall
Dothan, Ala.

May 11-May15th                                                                                  San Diego, Calif.
IMFAR 2011 Autism Science Meeting  – Manchester Grand Hyatt.


Tuesday, May 17th                                                                               South Hadley, Mass.
7:00pm

Venue: The Odyssey Bookshop
The Village Commons
9 College Street
South Hadley, Mass.

Wednesday, May18                                                                                   Charlestown, Mass.
6:00pm

Venue: Starr Center
185 Cambridge Street
Boston, Mass.


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