Monday, February 20, 2012

College Bound in Fayetteville, Georgia

Are you in Georgia, yearning for an autism conference, unsure which of the many you should attend?  Tonight, I have the answer.

Please join me at the College Bound Conference in Fayetteville (south of Atlanta) on Saturday, March 2nd  Follow this link for registration and more information.

This conference comes two days after the Georgia Autism Conference at the Gwinnett Convention Center (north of Atlanta) where I spoke last spring.

Some people have written to ask if I will be at the Gwinnett conference, but I will not.   I know it’s confusing, having two autism conferences days apart in the same city, but there it is.  It’s like being in a park, finding two dogs, and wondering which one to take home, if either.

When I was a kid in Georgia, we knew all about that kind of trouble.  Our dogs lived under the porch for that very reason.

Last year’s GA Autism Conference was a huge event, with 750 people in two auditoriums.  I had a great time, and I was honored to be invited, but the event was too big for much of any personal engagement.  The College Bound Conference promises to be a much more intimate affair, with perhaps 100 participants and much more one on one interaction.  If you missed that last year, please join me next week in Fayetteville.

If you are already planning to come to the Gwinnett conference, consider staying an extra day to join us as well.  I promise to be colorful, personable, and possibly insightful.  What else could you expect from a former Georgia kid, with dogs under his porch?

Tuesday, February 7, 2012

Un-Diagnosing Asperger's

There has been a loud and increasing outcry about the proposed redefinition of autism for DSM V.  In that redefinition, autism, Asperger’s, and PDD NOS will be combined to form one diagnostic label of ASD – autism spectrum disorder.

In my earlier essays on this topic, I suggested that people’s alarm was perhaps unjustified because I could not imagine health care professionals taking away a diagnosis that was allowing a person to receive useful treatment or therapy.

Yet that very worry seems to be the propagating rapidly throughout cyberspace . . . Indeed, that is exactly what may happen, if what these doctors believe comes to pass:

One psychiatrist (Volkmar) suggested up to 75% of the Asperger population would not qualify for the ASD diagnosis.

Another doctor (Siegel) said she un-diagnoses 90% of the Asperger kids who come to her today.

Conspicuously missing from both those statements is the second part . . . if the psychiatric community proposes to un-diagnose this large population of PDD NOS and Asperger’s, what do they propose to diagnose them with instead?  Something (I’m waiting . . .) or nothing?

If the expectation is that these “former Asperger people” will be diagnosed with something else that will qualify them for a sufficient level of effective services, it’s high time we hear what that new diagnosis might be.  I have yet to hear of any “replacement Asperger’s” for this population.

There is talk of Social Communication Disorder, but I am not aware of any broad array of services that might be associated with that diagnosis, if indeed it is an expected substitute.

Most people are diagnosed with Asperger’s or PDD NOS as kids.  Once the diagnosis is given, those kids receive social skills therapy and other help in fitting in.   Everything I hear from the field tells me the therapies are life changing for the people involved.  When I hear complaints, they usually are that the level of service is insufficient.  Conversely, I have never once heard of excessive treatment for Asperger’s.  Are we now proposing to take those services away from today’s Asperger population and others like them in the future?  What would be the justification for that?

I can imagine no reason except short term cost savings, which benefits health insurers and school districts.   While administrators of those organizations lobby from a different perspective, there is a widespread belief that these groups are already failing to deliver what's needed, in terms of support services.  Is the DSM definition being perverted into a tool to save these people money when they are not doing their jobs adequately and effectively now? 

I do understand that the surge in ASD diagnoses has placed a huge burden on the healthcare system and school budgets.  If it's true that a large fraction of ASD kids are improperly diagnosed today, it would stand to reason that the services currently being delivered are not needed.  If so, where is the outcry over waste?  There isn't any, because it's universally accepted among recipients that the services ARE needed.

The concept that a large population, who has a disability diagnosis today, might lose that diagnosis and access to the resultant services as a result of DSM changes is both shocking and unprecedented.

When I originally heard about this proposal, my understanding was that the new diagnostic umbrella would cover all those with prior ASD diagnoses. Believing that to be true, I supported the redefinition for the various reasons I've already articulated.  Now, I wonder if it's time to rethink that endorsement.

It seems like the medical and therapeutic community is sharply divided on this issue.  Many still take the stand that I expected, which is that a kid with an ASD diagnosis today, who benefits from services as a result, should be a kid with an ASD diagnosis in DSM V land.  For those who believe we would be right to un-diagnose some large percentage of the ASD population, what would you say to the people you propose to un-diagnose?

Thursday, February 2, 2012

New Findings on Sensory Overload - a first person perspective

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. 

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.