Archive | IACC RSS feed for this section

IACC meeting tomorrow

20 Oct

The Interagency Autism Coordinating Committee (IACC) is holding a regular meeting tomorrow. The announcement is below.

The IACC creates the “Strategic Plan” which guides autism research efforts in the United States. Primarily, the Plan is for use by U.S. governmental groups, but there is input from major private sources of autism research funding as well.

The meeting will be webcast at http://videocast.nih.gov/, and a coference call listen-only line will be available at:

USA/Canada Phone Number: 888-577-8995
Access code: 1991506

The IACC had a “Request for Input” (RFI), a call for public comments. Those comments are online here.

Interagency Autism Coordinating Committee (IACC) Full Committee Meeting

Please join us for an IACC Full Committee meeting that will take place on Friday, October 22, 2010 from 10:00 a.m. to 5:30 p.m. ET in Bethesda, MD. Onsite registration will begin at 9:00a.m.

Agenda: Invited speakers will give presentations on various aspects of autism spectrum disorder research and services and the IACC will discuss plans for the annual update of the IACC Strategic Plan for Autism Spectrum Disorder Research. Speakers include: Dr. Alexa Posny, Dr. Richard Frank, Ms. Wendy Fournier, Ms. Lori McIlwain and Dr. Kevin Pelphrey. The full agenda is available online at: http://iacc.hhs.gov/events/.

Meeting location:
The National Institutes of NIH, Main Campus – Google map imageMap and Directions

The William H. Natcher Conference Center

45 Center Drive

Conference Rooms E1/E2
Bethesda, Maryland 20892

The meeting will be open to the public and pre-registration is recommended. Seating will be limited to the room capacity and seats will be on a first come, first served basis, with expedited check-in for those who are pre-registered.

The meeting will be remotely accessible by videocast (http://videocast.nih.gov/) and conference call. Members of the public who participate using the conference call phone number will be able to listen to the meeting, but will not be heard.

Conference Call Access
USA/Canada Phone Number: 888-577-8995
Access code: 1991506

Individuals who participate using this service and who need special assistance, such as captioning of the conference call or other reasonable accommodations, should submit a request to the contact person listed above at least seven days prior to the meeting. If you experience any technical problems with the conference call, please-mail IACCTechSupport@acclaroresearch.com.

Please visit the IACC Events page for the latest information about the meeting, including registration, remote access information, the agenda, public comment instructions and information about other upcoming IACC events.

Contact Person for this meeting is:

Ms. Lina Perez
Office of Autism Research Coordination
National Institute of Mental Health, NIH
6001 Executive Boulevard, NSC
Room 8185a
Rockville, MD 20852
Phone: 301-443-6040
E-mail: IACCpublicinquiries@mail.nih.gov

The agenda is online, and below.

Time Event
9:00 a.m. Onsite Registration Desk Opens
10:00 Call to Order and Opening Remarks

Thomas Insel, M.D.
Director
National Institute of Mental Health and Chair, IACC
10:10 Review and Approval of July 16, 2010 Minutes
10:15 Alexa Posny, Ph.D.
Assistant Secretary of Special Education and Rehabilitative Services
U.S. Department of Education
10:45 Wandering and Autism: The Need for Data and Resources

Wendy Fournier
President
National Autism Association

Lori McIIwain
Board Chair
National Autism Association
11:15 The CLASS Act

Richard Frank, Ph.D.
Deputy Assistant Secretary for Policy and Evaluation
Department of Health and Human Services
11:45 Neural Signatures of Autism

Kevin Pelphrey, Ph.D.
Harris Associate Professor of Child Psychiatry
Child Study Center and Child Neuroscience Lab, Yale University
12:15 p.m. Lunch
1:00 Public Comments
1:30 Meeting Update: NICHD Workshop “Disparities in the Identification of Children with Autism Spectrum Disorders,” August 19, 2010

Alice Kau, Ph.D.
Health Scientist Administrator
Intellectual and Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Regina Smith James, M.D.
Director
Division of Special Populations, Eunice Kennedy Shriver National Institute of Child Health and Human Development
1:40 Meeting Update: NIEHS Workshop “Autism and the Environment: New Ideas for Advancing the Science,” September 8, 2010

David Armstrong, Ph.D.
Senior Investigator, Chief of the Laboratory of Neurobiology
National Institute of Environmental Health Sciences
1:50 Meeting Update: “Genetic Risk Factors for Autism Spectrum Disorders: Translating Genetic Discoveries into Diagnostics” Symposium, September 1-2, 2010

Stephen Scherer, Ph.D.
Director
The Centre for Applied Genomics, The Hospital for Sick Children
Director
McLaughlin Centre for Molecular Medicine, University of Toronto
2:00 Meeting Update: Simons Foundation Autism Research Initiative (SFARI) Annual Meeting, September 12-14, 2010

Gerald Fischbach, M.D.
Scientific Director
Simon’s Foundation Autism Research Initiative
2:10 Research Update: Study of Health Outcomes in Autistic Children and Their Families

Ann Wagner, Ph.D.
Chief
Neurobehavioral Mechanisms of Mental Disorders Branch, National Institute of Mental Health
2:20 Data Sharing Update: National Database for Autism Research (NDAR)

Michael Huerta, Ph.D.
Director
National Database for Autism Research, National Institute of Mental Health
2:25 Committee Business

* Workshop Update – Services Subcommittee

2:30 Break
2:45 Committee Business

* RFI update
* Portfolio Analysis update
* Discussion: Updating the Strategic Plan

5:00 Public Comments Discussion Period
5:30 Closing Comments and Adjournment

Congenital Rubella Syndrome: a Novel Form of Mercury Poisoning?

13 Sep

I considered titling this: A peak into the upcoming book “Age of Autism?” as this seems to show us the sorts of arguments that will be made in that book.

One of the known environmental causes of autism is Congenital Rubella Syndrome, or CRS. This was discussed as part of a presentation to the IACC, What Causes Autism? The Case for an Environmental Contribution, by Dr. Philip Landrigan. (video is here, starting at about minute 79. Sorry it doesn’t embed).

In the question/answer session for that presentation on at about 114 minutes into the IACC meeting) Lyn Redwood of SafeMinds brought up a new argument–that CRS induced autism may be due to mercury. It turns out that in the 1950’s gamma globulin therapy was started as a means of preventing CRS. Gamma Globulin was injected into pregnant mothers who to prevent or reduce the rubella infections. This exposed the mother and fetus to mercury and should be considered the cause of the autism according to Ms. Redwood.

I must admit that when I heard this question I thought: “Well, here is one of the talking points we will hear from the upcoming book, ‘Age of Autism’, by Mark Blaxill and Dan Olmsted”. Their book appears to be an attempt to tie all of autism (and many other conditions) to mercury, including, I suspect now, CRS. There are other loose ends they will undoubtedly bring up and tie into the mercury hypothesis (like the existence of autistics who were born before thimerosal was invented. That will be interesting to read).

There is at least one big reason why CRS was possibly not linked to autism before Stella Chase’s work in the 1970’s. Congenital Rubella Syndrome causes major disability. Severe to profound mental retardation. There are big spikes in the California Department of Developmental Services data for severe and profound mental retardation corresponding to the CRS outbreaks of the 1960s. Why bring this up? Because for the first two decades after Kanner’s original paper, many people considered intellectual disability (mental retardation) and autism to be completely separate.

From Infantile autism reviewed: a decade of research, a review article written in 1981:

One of the chief problems has been how to handle the questions of mental retardation and organic brain disease, issues especially troublesome with regard to infantile autism. When Kanner (1943) first described the diagnostic features, he also remarked that the condition bore no resemblance to any known neurological condition and implied that autistic children had a basically normal intelligence. For over two decades afterwards, diagnosticians generally believed that the presence of mental retardation or neurologic signs ruled out the diagnosis of infantile autism in the Kannerian sense, even if the child met all behavioral criteria (Eisenberg 1966). Thus diagnosis was frequently one dimensional; a child was labeled as afflicted with either infantile autism or mental retardation, not both.

Or, to put it another way, what many people today call “Kanner’s Autism”, with intellectual disability and/or apraxia, is not what Kanner and most of the people of his time thought of as autism.

But, data, as they say, there’s a funny thing about evidence. Real data is worth more than all these blogger discussions. The paper out today from Pediatrics included immune globulins in their analysis and showed that mercury exposure prenatally and in infancy and found that these exposures did not increase the risk of autism.

Then again, the funny thing about evidence is that it is repeatable. Two previous papers showed no link between immune globulins and autism:

Maternal Rh D status, anti-D immune globulin exposure during pregnancy, and risk of autism spectrum disorders


Lack of association between Rh status, Rh immune globulin in pregnancy and autism.

So, if I am correct and “Age of Autism” the book claims immune globulins *are* a cause of autism, what can we say? We can say that the funny thing about evidence is that some people are not swayed by it. Some people will continue to push the mercury hypothesis forever.

Upcoming IACC Services Subcommittee Conference Call – August 10, 2010

6 Aug

I just got this announcement:

The Interagency Autism Coordinating Committee (IACC) Services Subcommittee will be holding a conference call on Tuesday, August 10, 2010 from 2:00 PM – 3:30 PM ET. For more information see: http://iacc.hhs.gov/events.

The purpose of this meeting will be to discuss plans for the IACC Services Workshop that will be held on November 8, 2010 in Rockville, Maryland. (More information about the workshop is posted on the IACC website and will continue to be updated.)

To access the conference call:

USA/Canada Phone Number: 800-369-3340
Public access code: 8415008

Members of the public who participate using the conference call phone number will be able to listen to the meeting, but will not be heard.

Give the IACC your input on what autism research should focus upon

28 Jul

I’ve already blogged this a few times. The deadline is coming soon, July 30th. The IACC listens to public input. Whatever you think should be stressed or not stressed in autism research, let the IACC know now.

The link for the input form is here

They allow you to give very extensive responses. Don’t let this put you off. If you only have a couple comments, give them. Do it now.

ASAN Update on IACC Public Comment Deadline

27 Jul

The Interagency Autism Coordinating Committee (IACC) has the job of creating a strategy for the U.S. government’s research in autism. They are made up of government officials, professionals, parents and, most importantly, autistics. The IACC creates their Strategic Plan with input from the public.

One of the big opportunities to submit input is this week. The IACC has an “RFI“, request for information. This is your chance to tell the IACC what you think should (and should not) be stressed in autism research.

I was reminded of this deadline when I received an email from the Autistic Self Advocacy Network (ASAN), which I quote below:

This is another ASAN Update for bloggers in the Autistic and disability rights communities. The public comment period for the Interagency Autism Coordinating Committee (IACC) Strategic Plan for Autism Spectrum Disorder Research closes this Friday, July 30, 2010, as stated in the IACC’s reminder notice set forth below. The IACC is a Federal advisory committee that coordinates all efforts within the Department of Health and Human Services concerning autism. The Autistic Self Advocacy Network encourages public participation in the IACC’s proceedings.

As always, please feel free to contact us if you have any questions or feedback, and let us know if you would prefer to receive these announcements at a different address or to be removed from the list.

Best regards,

Meg Evans, Director of Community Liaison
Autistic Self Advocacy Network

The RFI announcement is below:

Reminder: IACC 2010 RFI to Inform the 2011 Update of the IACC Strategic Plan Closes This Friday, July 30, 2010

The IACC has issued a formal Request for Information (RFI) to solicit public input to inform the 2011 update of the IACC Strategic Plan for Autism Spectrum Disorder Research. During the six-week public comment period (June 18 – July 30, 2010), members of the public are asked to provide input to the committee on what has been learned in the past year about the issues covered in each of the seven chapters of the IACC Strategic Plan, and on what are the remaining gaps in the subject area covered by each chapter. In addition, the committee is seeking input on the introductory chapter and other general comments about the Strategic Plan. Comments collected through this RFI will be posted to the IACC web site after the closing date.

If you would like to respond to the RFI, please go to: http://www.acclaroresearch.com/oarc/2010rfi/. Responses will be accepted until this Friday, July 30, 2010.

Take the time to comment. You don’t have to give them permission to use your name. You don’t have to respond to every section. You can give a short comment or two (or more) and be done.

Now is the time!

Now is your chance to tell the US Government what autism research should focus upon

13 Jul

I got this reminder notice today. You can give the IACC (Interagency Autism Coordinating Committee) your views on what is important in autism research:

Reminder: IACC 2010 RFI to Inform the 2011 Update of the IACC Strategic Plan is Open Until Friday, July 30, 2010

In June 2010 the IACC issued a formal Request for Information (RFI) to solicit public input to inform the 2011 update of the IACC Strategic Plan for Autism Spectrum Disorder Research. During the six-week public comment period (June 18 – July 30, 2010), members of the public are asked to provide input to the committee on what has been learned in the past year about the issues covered in each of the seven chapters of the IACC Strategic Plan, and on what are the remaining gaps in the subject area covered by each chapter. In addition, the committee is seeking input on the introductory chapter and other general comments about the Strategic Plan. Comments collected through this RFI will be posted to the IACC web site after the closing date.

If you would like to respond to the RFI, please go to: http://www.acclaroresearch.com/oarc/2010rfi/. Responses will be accepted until Friday, July 30, 2010.

Interagency Autism Coordinating Committee (IACC) wants your input

18 Jun

The Interagency Autism Coordinating Committee creates the Strategic Plan for the US Government’s research efforts in autism. They update this every year. They are seeking input from the public.

What do you think should autism research should focus on in the future? Now’s your chance to let your voice be heard. Public comments can be entered here: http://iacc.hhs.gov/public-comment/2010/index.shtml.

The website will take you through the entire Strategic Plan, section by section. You don’t have to respond to everything. If you just have a few short messages for the IACC, go ahead and let them know.

IACC Issues New RFI to Solicit Public Input to Inform the 2011 Update of the Strategic Plan

The IACC has issued a formal Request for Information (RFI) to solicit public input to inform the 2011 update of the IACC Strategic Plan for Autism Spectrum Disorder Research. During the six-week public comment period (June 18 – July 20, 2010), members of the public are asked to provide input to the committee on what has been learned in the past year about the issues covered in each of the seven chapters of the IACC Strategic Plan, and on what are the remaining gaps in the subject area covered by each chapter. In addition, the committee is seeking input on the introductory chapter and other general comments about the Strategic Plan. Comments collected through this RFI will be posted to the IACC web site after the closing date.

To access the RFI, please go to: http://iacc.hhs.gov/public-comment/2010/index.shtml.

Upcoming Joint Conference Call of IACC Subcommittee for Planning the Annual Strategic Plan Updating Process and IACC Services Subcommittee – June 18, 2010

14 Jun

I just received this notice. The Interagency Autism Coordinating Committee (IACC) prepares the “Strategic Plan” for the government’s efforts in autism research and is charged with advising the Secretary of Health and Human Services on issues involving autism

The Interagency Autism Coordinating Committee (IACC) Subcommittee for Planning the Annual Strategic Plan Updating Process and the IACC Services Subcommittee will be holding a joint conference call to discuss plans for a fall 2010 IACC Scientific Workshop on the topic of ASD services on Friday, June 18, 2010 from 10:00 AM – 12:00 PM ET.

The purpose of the conference call is to discuss plans for a fall 2010 IACC Scientific Workshop on ASD services research.

Members of the public who participate using the conference call phone number will be able to listen to the meeting but will not be heard. This phone call may end prior to or later than 12:00 PM, depending on the needs of the subcommittees.

To access the conference call:

USA/Canada Phone Number: (800) 369-3340
Access code: 8415008

The latest information about the meeting can be found at: http://iacc.hhs.gov/events/2010/subcommittee-for-planning-the-annual-strategic-plan-updating-process-mtg-announcement-June18.shtml

You received this announcement because you attended a previous meeting of the IACC or joined the IACC mailing list. We apologize for duplicate notices. For more information on this meeting, or the IACC, please visit: http://iacc.hhs.gov/

The IACC also can now be found on Twitter (www.twitter.com/IACC_Autism).

Please note: The meeting may end prior to or after 12:00 PM, depending on the needs of the committee.

Tom Insel faces scrutiny

8 Jun

Dr. Tom Insel is the director of the U.S. National Institute of Mental Health (NIMH) and also chairs the Interagency Autism Coordinating Committee (IACC). As such, he has been placed under a lot of scrutiny and criticism from some sectors of the autism community.

He now faces scrutiny from other quarters.

Science Insider has a story, NIH Conflicts Overhaul Bumps Up Against Psychiatry’s Old Boys Network. The story is also in the Chronicle of Higher Education as As He Worked to Strengthen Ethics Rules, NIMH Director Aided a Leading Transgressor.

The scrutiny involves Dr. Insel’s actions in possibly supporting a former colleague from Emory Universiy, Dr. Charles B. Nemeroff, in his effort to find a new position at the University of Miami. Dr. Nemeroff was sanctioned at the time for conflict of interest issues, including a two year ban by Emory on applying for NIH funding.

From the Chronicle:

A yearlong effort by the National Institutes of Health to toughen its policies against financial conflicts of interest was led by an administrator who quietly helped one of the most prominent transgressors get hired by the University of Miami after a decade of undisclosed corporate payments led to his departure from Emory University, a Chronicle investigation has found.

The administrator, Thomas R. Insel, director of the National Institute of Mental Health, also encouraged the researcher, Charles B. Nemeroff, to apply for new NIH grants, even though Emory had agreed on its own to restrict Dr. Nemeroff from NIH grant eligibility for two years. The NIH also allowed Dr. Nemeroff uninterrupted eligibility to serve on NIH advisory panels that help decide who receives NIH grant money.

From Science Insider:

Nemeroff then applied for a job at the University of Miami’s medical school. According to e-mails that The Chronicle obtained, the school’s dean, Pascal Goldschimidt, e-mailed Insel in July 2009 to ask for a “confidential opinion” regarding Nemeroff. Insel replied that he could not provide a written recommendation but could talk to Goldschmidt informally by phone, which he apparently did, according to the e-mails. (Goldschimdt told The Chronicle he wanted to be sure Nemeroff could receive NIH grants and that Insel assured him “that Charlie was absolutely in fine standing.”) At the time, Insel co-chaired a new NIH committee to revise federal COI regulations; NIH proposed changes in those rules last month.

Addendum:

Dr. Insel discusses issues involved in the above in his blog post NIMH – Reducing Conflict of Interest, Ensuring Public Trust. Given that his post in to a U.S. Government website, I don’t see a problem reproducing it in whole here:

Over the past five years, there have been several psychiatrists implicated in financial conflicts of interest (fCOI). Some of these psychiatrists were funded by NIMH. Two questions have been raised: is fCOI a greater problem for psychiatrists than other medical specialties? And is NIMH part of the problem or part of the solution? I addressed the first question in a recent JAMA commentary.

The second question – what is NIMH’s role? – is raised by allegations that NIMH has not taken this problem seriously and that as Director, I have failed to take action against those who have been accused. These allegations are particularly surprising to me because the Institute has done so much to ensure that the research we fund meets the highest standards of integrity—free of bias or hidden agendas. Beginning in August 2008, NIMH established a new internal process to review all grants prior to funding and all nominees for advisory panels prior to appointment to identify potential fCOI issues. When concerns arise, we require the institutions involved to provide additional information regarding compliance with the current fCOI Regulations to ensure the fCOI has been managed, reduced or eliminated.

The Institute is taking additional steps to preserve the integrity of NIMH-supported research. NIMH is developing a training course to help those in academic psychiatry understand the reasons for Regulations regarding fCOI.

In addition, as part of our mission, NIMH supports research to study problems in the use of evidence based practices, such as the continued under-utilization of psychosocial treatments and the ways by which certain medications may become overused.

Concurrently with the Institute’s aggressive stance to address fCOI, NIH (with NIMH in a leading role) has proposed a new approach towards strengthening Federal Regulations. A Notice of Proposed Rulemaking was published on May 21, 2010 outlining a more rigorous approach to investigator disclosure, management of conflict by universities, and federal oversight. Available for public comment until July 20, 2010, we urge our many partners to review and comment on these proposed revisions to the current fCOI Regulations. We are hopeful that with strengthened Regulations, the Institute will be more efficient and proactive in minimizing potential sources of bias in research.

There is an additional question being asked of those who have violated existing policies: Will they be permitted to apply for grants? Any scientist can apply for NIH funding unless he or she has been “debarred”, the result of an official process via the HHS Office of Research Integrity. Absent this, all applicants must be treated fairly and equally.

NIMH has a critical national mission: to transform our understanding and treatment of the nation’s most disabling disorders (WHO 2008). This will require the best minds from government, academia, and the private sector working for the public good and not for personal gain. As the steward of public funds at NIMH, I am committed to ensuring that we support science that is unequivocally in the public’s interest, unambiguously supported by the public trust.

The second-to-the-last paragraph addresses one issue raised in the Chronicle story–that of the status of Dr. Nemeroff’s ban from applying for NIH grants. He was banned by his University, Emory, not the NIH. Dr. Insel informed U. Miami that Dr. Nemeroff was not banned or “debarred” by NIH.

Dr. Tom Insel on Demystifying Autism

12 May

Dr. Tom Insel wears many hats, as they say. He is the director of the National Institute of Mental Health (NIMH), one of the National Institutes of Health run by the US Government. As part of his function there, he chairs the Interagency Autism Coordinating Committee (IACC). The IACC prepares the “Strategic Plan” for the government’s activities in autism research.

Dr. Insel has obviously taken autism research very seriously. He doesn’t just chair the IACC, he obviously spends a lot of time reviewing autism research. I doubt many people at the Director level at NIH would spend the amount of time Dr. Insel obviously spends on autism.

He has recently given a few talks on autism, the current state of knowledge and the directions for research. One such talk was at NIH and was titled Demystifying Autism . Another talk was given at MIT and was hosted by the Simons Foundation. (sorry, I can’t find embed code for those talks)

Dr. Insel talks about how there is a large diversity in the autism population. The “spectrum” is broad, as likely most readers to this blog will already know. In both talks, Dr. Insel uses video from Dov Shestak (son of Portia Iverson and Jon Shestak, founders of Cure Autism Now, which is now part of Autism Speaks). This is used to give an example of regression in autistics.

Of course one large section is devoted to the increasing autism prevalence. Dr. Insel mentions the epidemiological work of Peter Bearman, which shows that much of the increase in the California Department of Developmental Services autism caseload can be accounted for by diagnostic changes and social factors. But, not all of the increase has been accounted for. Dr. Insel uses the term that the burden of proof is on those who would say that the increase is not “real”. I would put it differently–that given the lack of definitive information on the causes of the rise, we should continue to look for possible environmental causes. Many use the term “environmental cause” to mean “vaccines”. That’s not what I, or it appears, Dr. Insel mean though.

Dr. Insel discusses one yet-unpublished study: the California Twin Study.

Here is his power point slide (which you can click to enlarge if you wish):

Slide showing results of yet unpublished twin study

Dr. Insel's slide on Twin Study

or–

Narrow criteria:
monozygotic (“identical”)–80% concordance
dizygotic (“fraternal”)– 26% concordance
.
broad criteria
monozygotic–87% concordance
dizygotic– 39% concordance

This is consistent with a recent study from the Kennedy Kreiger Institute at Johns Hopkins. While this wasn’t discussed by Dr. Insel, I include the abstract for that study below:

OBJECTIVES: To examine patterns of autism spectrum disorder (ASD) inheritance and other features in twin pairs by zygosity, sex, and specific ASD diagnosis. DESIGN: Cross-sectional study. SETTING: Internet-based autism registry for US residents. PARTICIPANTS: Survey results from 277 twin pairs (210 dizygotic [DZ] and 67 monozygotic [MZ]) aged 18 years or younger with at least 1 affected twin. MAIN EXPOSURES: Zygosity and sex. OUTCOME MEASURES: Concordance within twin pairs of diagnosis, natural history, and results from standardized autism screening. RESULTS: Pairwise ASD concordance was 31% for DZ and 88% for MZ twins. Female and male MZ twins were 100% and 86% concordant, respectively, and DZ twin pairs with at least 1 female were less likely to be concordant (20%) than were male-male DZ twin pairs (40%). The hazard ratio for ASD diagnosis of the second twin after a first-twin diagnosis was 7.48 for MZ vs DZ twins (95% confidence interval, 3.8-14.7). Affected DZ individual twins had an earlier age at first parental concern and more frequent diagnoses of intellectual disability than did MZ twins; MZ twins had a higher prevalence of bipolar disorder and Asperger syndrome and higher concordance of the latter. Results of autism screening correlated with parent-reported ASD status in more than 90% of cases. CONCLUSIONS: Our data support greater ASD concordance in MZ vs DZ twins. Overall higher functioning, psychiatric comorbidity, and Asperger syndrome concordance among affected MZ vs DZ twins may also suggest differential heritability for different ASDs. For families in which one MZ twin is diagnosed with ASD, the second twin is unlikely to receive an ASD diagnosis after 12 months. In addition, Internet parent report of ASD status is valid.

Concordance is when one child has an ASD, does the other one? 100% concordance would mean that if one twin has an ASD, the other twin does as well. That would indicate that autism is purely genetic.

Most people will concentrate on the monozygotic concordance. Even with the broad criteria, there is 87% concordance. That would indicate that at least some fraction of the cause of autism is not genetic. This is a very complicated question, as Joseph at the Autism Natural Variation blog has discussed.

What is astounding to me is the dyzogotic concordance. Take the 39% for the broad criteria. My recollection is that the concordance for siblings is about 4% if one sibling is male, and about 10% if one sibling is female. I’m trying to find the study on this. But, is there a higher concordance for dizygotic twins than for siblings in general?

Dr. Insel spends a fair amount of time on the genetic studies involved in autism. He attributes about 15% of the current autistic population as being linked to known genetic conditions. This is a pretty common estimate in the community.

One interesting fact: the known genes associated with autism are neurodevelopmental and involved with synapses. He even titles the slide as “Autism as a synaptic disease” and proposes that synaptic function might be the unifying feature of autism.

Dr. Insel notes that there are many chemicals whose neurotoxicity have not been determined. He also notes that there are some known chemicals which increase the risk of autism–valproic acid, Thalidomide and misoprostal. For all of these there is a critical window of time–in the first or early second trimester of pregnancy–where the autism risk is increased. Thalidomide, for example, is considered to be causal in a short period of time–from 20 to 24 days gestation.

If you want to see the direction Dr. Insel may take autism research in the future, these talks are worth listening to. I think it safe to say that autism research will continue to look for causes, genetic and environmental. Environmental cause research will likely focus on prenatal exposures. Study will continue on the physical structure of the brain, the “circuitry” to help define what autism is and what the phenotypes may be. Study will continue on interventions, with a look towards earlier interventions (before age 1, possibly before symptoms are visible). Intervention research will look to be tailored to the individual, which will require some way to phenotype autism.

As I noted above, I think Dr. Insel is taking a close interest in autism. He doesn’t dictate the goals for autism research, but I think listening to what he has to say gives in interesting insight into the directions it may be going.

← Older Entries
Newer Entries →