Wednesday, May 30, 2012

IMFAR 2012: One Autistic Attendee's Perspective

Carol Greenburg
www.thinkingautismguide.com

The author and Stephen Shore
Evidence-based information and spirited civil debate abounded at IMFAR 2012. Though I thought we all could have benefited from more power outlets in the breakout rooms, I had some terrific conversations with other attendees -- some autistic, some not. I found the formal presentations a bit uneven (I confess the eye-roll Shannon Des Roches Rosa so kindly and repeatedly brought to TPGA readers' attention happened during several panels).

I found a few presentations maddening. One example was Karen Solomon's talk on Autism and Friendship that seemed to boil down to a not-so-revolutionary point that autistic people are interested in making friends. Is the mythology about our anti-social nature really so deep-rooted, even among people who have met autistics, that it was necessary for attendees to fly in from all over the world for scientific verification?

At times like these I skulked in the back of the room (as I often do at conferences); it is a conscious strategy. I need to make quick escapes in case I start to melt down while in rooms packed with people and full of loud microphone feedback that hurts my ears, or in case the speaker pisses me off with theories predicated on assumptions about autism that are at odds with my own 49 years' experience with actually being autistic. If my options are loudly proclaiming, "You're wrong!" or slipping out quietly, I figure the second option is more socially acceptable. While I don't fully understand the concept of conforming for the sake of conforming -- I really don't feel a  need to belong in most settings -- I also know what it's like to speak publicly, and certainly wouldn't want a reaction like the first from one of my own audience members. Sometimes I forget I'm not supposed to have empathy.

One-to-one encounters worked better for me not only because I process information much more easily in a quieter, more personal setting -- but because these discussions felt like a more equal exchange. Rather than feeling like I was being described as a kind of being I don't recognize (despite my alleged autistic incapacity for self-awareness) I felt comfortable chatting with scientists about which theories and data resonated with me, which didn't, and why.

Predictably, I was most comfortable with the people I knew best, friends like Stephen Mark Shore and my beloved fellow TPGA editors-in-attendance Shannon Des Roches Rosa, Jennifer Byde  Myers, and Emily Willingham. On Saturday morning -- during a moment when I am relieved to note Stephen was not present -- there was some commentary from the TPGA contingent on the low-cut shirt I was wearing. Silliness about "the girls coming out to play” ensued. We all laughed, but then I asked my co-editors to tell me honestly whether my clothing was actually inappropriate. On my own, I seriously don't know what constitutes proper attire, demonstrating one of the subtler needs for Neurodiverse partnerships: NT's and autistics can serve as each other's Sherpas in neurologically foreign territories.

Alas, I'm not as socially skilled when left to my own devices. When I accosted poor Simon Baron-Cohen during a conversation he was having with Alex Plank, founder of Wrongplanet.com, I admit I was not on my best behavior. But as often happens at conferences, I was so afraid I'd miss the opportunity to discuss one of my special interests with the only researcher I know of who is addressing it (a possible correlation between poly-cystic ovarian syndrome and autism, both of which I have). I threw my hard-won manners to the wind, introduced myself to Dr. Baron-Cohen and said "I have PCOS. I'm autistic and so is my son. You need to study me." Suave, n'est-ce pas? Nonetheless Dr. Baron-Cohen asked me for my card, and in the end both gentlemen were gracious enough to overlook my social clumsiness -- I think. For all I know they were both furious with me, but all possible indications of anger in their faces, body-language and tone of voice soared high over my head as such nonverbal communication so often does.

As I suspected, I did not get another chance to speak with Dr. Baron-Cohen -- but I was privileged to spend a fair amount of time with the delightful Mr. Plank, whom I have wanted to meet for years. The opportunity to meet Alex and so many of the other autism celebrities with whom I've only had virtual contact over the Internet would have, in and of itself, justified the time and money spent on the schlep to Toronto. It's not just that it's a thrill for me to meet famous people, though that part is exciting; it's also wonderful to spend time with others for whom autistic is a mother tongue.

After my blunt near-demand -- uh, I mean with some delicate and diplomatic encouragement -- Alex Plank very thoughtfully  introduced  me to one of my heroes, John Elder Robison. Perhaps out of nervousness, I offered my hand and what I think passes for a conventional, polite NT greeting: "Hi. I'm Carol." He acknowledged that with a nod with an unembellished but pitch-perfect, context-appropriate, possibly Han Solo-esque response. "I know." I loved that greeting. Concise, accurate, and most importantly devoid of flowery small-talk that initial face-to-face encounters with non autistic people seem to require. What a relief, not to be forced into the conversational dance of social niceties that I have learned to do but have never enjoyed. I found John's first words to me, and John as a person, effortlessly, autistically charming.

IMFAR is a science conference and I am not a scientist, so it wouldn't surprise me if I missed many nuances. Since I'm grateful to scientists for sharing the expertise that comes from years of training and careful research, I would have liked to return the favor in some systematic way. A lifetime of looking at the world through autistic eyes yields a different kind of understanding of autism than the taking and interpretation of data. Not necessarily a greater or lesser understanding, I think, but a different understanding; one that also deserves a place on the stage. I'm hoping to see more of that at IMFAR 2013 in Spain.

Sunday, May 27, 2012

Autism in Ireland: Protesting Service Cuts

Shannon Des Roches Rosa
www.thinkingautismguide.com

Updated extensively on 5/28, as the photo in question was removed from all TPGA pages by request of the parent and the photographer, so the photo-linked TPGA Facebook thread this post referred to was also removed -- and now context is needed. -SR

This photo may not mean what you think it means. So let's get that cleared up, because the Irish government is putting autism families and people with disabilities in dire straits, and that's where we need to focus.

The photo was of a little boy at a protest regarding the Irish government's cutback of in-home support services (called entitlements in Ireland) holding up a sign with his own photo and the statement "If you take away my entitlements, can you take away my autisim [sic]?

There's a chance that, like me and like many other literal thinkers, you see this sign as asking "Can you take away my autism?" and supporting a political stance that is harmful to autistic people. This kind of campaigning is unfortunately common in the United States (though I will not give such fear mongerers additional publicity by linking to them). These attitudes are contrary to TPGA's mission, and we speak out firmly against them. I protested the sign vehemently on TPGA Facebook for this reason:
It is not OK to have a child carry a poster that proclaims them broken or damaged. Not ever not ever. This is not support, this is not awareness -- this is public shaming. If you don't understand why, let's talk. -SR
But then I heard that those parents were not trying to demonize autism, and that is not what the sign is meant to say. And this is the information you need to know, and help others understand:

This protest is taking place in Ireland, where sarcasm is part of the cultural fabric -- the sign is not meant to be taken literally, but ironically -- this family believes the entitlements (supports) the Irish government is threatening to take away from Ben (the boy's name) are as much his right as his autism is a part of him. You can't take away his autism, and you can't take away his rights. This is meant to be a message of autism acceptance. (Though I hope folks understand why sarcasm can be problematic in an autism context of frequent literal thinking.)

This sign is protesting widespread Irish government cutbacks to critical services such as in-home support (domiciliary care) for autism families and people with disabilities. Trish Flood has two autistic children and was recently informed that she would no longer receive a carer's allowance for one -- she had to take the matter to High Court. Trish had this to say on TPGA's Facebook page:
"I love my children more than anything and i will do everything in my power to ensure they live happy and independent lives. [But] Without government support, we cannot keep the roof over our heads, as I cannot be a full time carer and hold a job at the same time."
From Inclusion Ireland CEO Deirdre Carroll:
“The situation for people using services is growing increasingly bleak, as services continue to be cut, and charges are introduced in areas such as respite and transport. Given the economic situation, it unfortunately looks like this will continue, which causes massive worry and stress" 
The present and future are worrisome times for people with disabilities in Ireland, and their families. Please let us know what further actions we can take to get the right messages out, and influence the people who need to be influenced.

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However, as I also wrote on the deleted FB thread, I hope Ben's family understands my concerns about the sign's long-term impact:
I think we all understand *in this thread* what the point of the sign was. That's not the issue. The problem is this photo no longer represents the family, or their cause. This photo now belongs to the Internet. You will never be able to remove it [specific instances like TPGA, yes -- in general, no], you will never be able to explain the context every time it appears. And every time someone who wants to cure autism or deny the rights or entitlements of autistic people like Ben or my son and their adults peers Googles for a graphic for an anti-autism diatribe, this photo will appear up with the caption "take away my autism." So while I understand why Ben and his family would be upset by the reaction this photo has generated -- and while I wish it never had to happen -- the potential for harm is very real, long lasting, and is bigger than hurt feelings and cultural crossed wires. -SR
And I also want to express my concern about the way autistic adults who protested the sign were treated. Also from the TPGA FB thread:
I am disturbed by the way this conversation has gone. As an autistic adult I get told to "not judge" and to "not sound so angry" all the time, usually because someone didn't understand the context or look at where I am coming from. Yet I am seeing judging, anger, et cetera [...] from people who tell me not to do this. I don't understand. Nor do I understand how sarcasm is an effective protest technique ... especially because it is hard to catch sarcasm from a sign. -KS [TPGA editor Kassiane Sibley]
Many autistic adults have indeed been bullied -- and in some cases threatened -- over their protesting of this not-at-all-clear sign (though many other folks calmly and clearly stated what the sign's intention was). Bullying and threats are never OK.
Anyone who parents or cares about an autistic child needs to think about how they'd like people to speak to their child when that child is grown. And I am writing this as a parent of a non-speaking child who receives the U.S. equivalent of domiciliary services, and as someone who would be on the front lines of the protest, were I to live in Ireland. Asking for respect is not about "severity" or whether or not one's child communicates typically. It is about rights -- the right to not be bullied or threatened as a disabled or autistic person. -SR

Friday, May 25, 2012

IMFAR 2012: NIH and IACC Overview

Susan Daniels
  • Acting director of office of autism research coordination at NIH (National Institutes of Health)
  • Involved in strategic planning & research at IACC (Interagency Autism Coordinating Committee)
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Dr. Daniels spoke at IMFAR about the IACC and the NIH, on the autism research landscape, and IACC research and data sharing. Any errors or omission are on yours truly. -SR

IACC (Interagency Autism Coordinating Committee)

IACC background: formed under Combating Autism Act of 2006 (CAA) with the goal of accelerating the pace of autism research, and coordinating it as well. The CAA expired Sept 2011, but has been reauthorized.

The IACC consists of Federal and Public members (click photo to enlarge):

List of IACC members, new members are red
The IACC Mission (from the official site, iacc.hhs.gov)
  • Provide advice to the Secretary of Health and Human Services regarding Federal activities related to autism spectrum disorder.

  • Facilitate the exchange of information on and coordination of ASD activities among the member agencies and organizations.

  • Increase public understanding of the member agencies' activities, programs, policies, and research by providing a public forum for discussions related to ASD research and services.
IACC Responsibilities include:
IACC Strategic Plan
  • The IACC does not fund research
  • Resarch Questions in the IACC plan include:
    • Diagnosis, biology, treatments, services, lifespan issues*, infrastructure, Data Sharing and surveillance, etc.
Next meeting will be July 2012 - Stay Tuned for details!
  • Will be announced on IACC website, listserve, and Twitter
  • The IACC welcomes public comments!
More info about the IACC: all public at www.iacc.hhs.gov.

*Lifespan issues used to be a subset of services, but has been broken out because they are separate, important issues.

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NIH (National Institutes of Health) Autism Efforts

Upcoming in 2012: Analysis of 2010 autism spectrum disorders research portfolio across both federal agencies and private organizations.

2010 Total funding across federal & private funding: 480M (Private = $74 M, Fed = $334 M). This is not all more spending, it's better tracking, detailed data from HHS and Dept of Education. Private funding remained similar to 2009 level.

NIH has steadily increased  autism research funding since 1996, though now is plateauing with tight budget times. Compared to diseases, autism research has been on the upswing.

NIH Autism Centers of Excellence
  • Encompass centers and networks,
  • Foster collaboration between teams of specialists at same facility
  • Networks consist of researchers at many facilities
NDAR: National Database for autism research (ndar.nih.gov)
  • Contains data from over 25K subject, 200K data elements.
  • Data: Imaging, phenotype, genomic, gender, etc. related to human subjects.
  • Primary message: We need to build a culture of data sharing to advance autism research!
  • If everyone is sharing, then everyone can benefit.
    • Especially important in this time of tight budgets. 
    • Accelerates progress.
NIH Director Tom Insel says: Be smart, share your data -- it will help protect your own research.

Thursday, May 24, 2012

IMFAR 2012: Evans - Structural Connectivity in Neurodevelopment

Dr. Evans was a keynote speaker at IMFAR 2012. His talk centered around the work that is being done based on the data collected from the longitudinal study of normal brain development at NIH. He spoke extensively about correlates that can be read from the data, for example, the relationship between cortical structure and things like IQ and testosterone levels. It would be impossible to capture the incredible amount of information in 140 character bites, but as an outline, we hope it can give you a starting point for further research. Errors, omissions and misspellings are mine.-JBM

Wednesday, May 23, 2012

IMFAR 2012 Roundup: Genetics of Autism and Animal Models

Emily Willingham
www.ThinkingAutismGuide.com

Caveat: All findings discussed here were presented at a conference and have not undergone peer review.


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What is the use of animal models?

I understand the use of animal models like mice to figure out how gene changes affect outcomes in a whole animal, rather than, say, in cells in a dish. I’ve used them myself. Knocking out a gene of interest in a mouse strain, applying an environmental exposure of interest, observing the behavior of the mouse involved -- these tactics can be revealing, sometimes. Say a mouse with a nonfunctioning partner in a gene pair shows a specific behavior -- like vocalizing less to its mother -- and maybe we can interpret that in human terms as being inhibited social communication and assume the gene in question is involved.  The idea is that observing changes linked to the absence or overabundance of a particular gene product can help us home in more on that gene, see what its usual job is and in what pathways, and determine if it could rationally be linked to the human condition in question--in this case, autism.

Studies like this are called “mechanistic” studies because they are the scientific version of opening up the hood and checking the different working parts to see what their function is. Adding a part or taking away a part can often tell us quite a bit about what that part does, what its mechanistic role is in the whole. But I’m feeling a little jaded about animal models in autism because of the genetics and genomics data I saw presented at the conference. With a few exceptions, nothing seems to have emerged as a clear new contender for knocking out or otherwise manipulating in mice. Some of the usual suspects, like SHANK, were there. But the genome-wide association studies, intended to examine a genome for changes associated with a disorder or other condition, are not kicking out a lot of obvious single candidates for genes associated with autism. It’s almost looking like we’d have to make about a thousand animal models of autism to tease out various associations between a gene change and a specific autism-related endpoint.

Genetics and genomics

What studies are kicking out is a mix of information that’s conflicting, suggestive, intriguing, and requiring a lot more refinement. I saw data implicating genes specific to neuronal development or connectivity and data suggesting genetic and biological marker overlap with autism and schizophrenia (and then one suggesting no common, shared gene variants between the two), but possibly tracing to different changes in the genes relative to each condition. The most interesting genetics-related talk I saw referenced microRNA, the tiny molecules in the cell that get to a gene product before the cell can actually use it, and silence it. They’re like the molecular hitmen of the cell. More microRNA generally means less functional product of a given gene. The implication? A gene sequence may be intact and unchanged, but if the microRNA is more abundant, it could be interfering with the pathway well after the gene in question has already completed its work. It is regulation beyond the gene.

Another finding of interest related to maternal genes and their influence in the development of autism. These “maternally acting gene alleles” or MAGAs, have been linked to a number of disorders, including autism, and one conference presentation described using genome-wide association to identify MAGAs potentially involved in autism. That’s an intriguing path to follow.

Awhile back, everyone got pretty excited about genome-wide association studies. These broad-scale but fine-grained analyses were supposed to compare genomic changes between populations and pull out differences that were population specific. The great hope was that these studies would find the needles in the haystack of human gene sequences. Based on what I saw at the conference, in many cases, they’ve just added to the haystack of genes and gene variants implicated autism. On the one hand, given how clearly multifactorial autism is and how little evidence there is for a single gene or even a few genes to be associated with all instances of it, it makes sense that these studies would have confusing results. On the other hand, genome-wide association studies haven’t yielded the clearly writ signposts pointing out research directions that everyone had hoped they would, with some exceptions that apply to a limited segment of the autistic population. That’s not to say we should abandon them. It may be that to really pull the signal from the abundant noise, the number of replications and studies will need to approach biblical proportions before we can see the same candidate genes emerging repeatedly.

Another great hope for tracing the genetic factors of autism was copy number variation (CNV), and that remains in the running. As the name implies, the number of copies of a given DNA sequence can vary from person to person, and sometimes, a difference in copy number can be linked to an outcome, like autism -- and sometimes not. Some of the presentations at the conference offered hints that an accumulation of differences in the genome might be more relevant in autism than one specific gene variant or CNV.

Epigenetics is hot in autism research, as it is in seemingly every other relevant research field. The term refers to the chemical tagging of DNA that either silences the sequence that is tagged or causes it to be used more often. Environment can affect this tagging, so much so that identical twins essentially become quite different in their genetic expression through life, not because their actual gene sequences change, but because lifestyle differences result in different tagging patterns on the DNA. Their sequences are the same, but what they use of those sequences can become quite different. Results in epigenetics studies were mixed and often just the beginning of the adventure. This field looks wide open and poised to complicate autism research even more.

Suggested Directions

The genetics of autism are of interest to me primarily because pinpointing gene variants, gene silencing, and copy number variation as being associated with autism largely extends the host of studies establishing the primarily genetic nature of autism. That’s a purely scientific interest. But with the big analyses, there seems to be a whole lot of noise in the results without much to latch onto. What we need is for genetics studies to focus on the behavioral endpoints of autism that most negatively affect an autistic person’s quality of life. What are the genetic links, for example, to autistic people who engage in self-injurious behaviors? What are the genetic links among autistic people who are nonverbal (some hints here, perhaps)? Most of the populations in these studies are not stratified to that level--they simply include autistic people generally or are divided -- still -- into “low-functioning” and “high-functioning” individuals, which precludes homing in a specific gaps that both groups may share, another draw back of relying on these “functional” divisions.

A few studies at the conference involved efforts to link genes and outcomes, or phenotypes, and even to use this knowledge therapeutically. I’d like to see a lot more of this greater specificity in these analyses because overall, I don’t see “curing” autism as a realistic or even desirable goal, but addressing gaps is both. In addition, the clear heterogeneity of the condition along with still significant overlaps among populations as researchers currently divide them does nothing to clarify all the noise in the results. Rather than taking autism as a complete entity, I’d like to call for research to home in on specific features that directly and negatively influence quality of life of autistic people or even other populations that share these gaps and look for the mechanisms and pathways associated with them. I am not alone in this idea. At the most, a more focused approach could lead to real interventions for the actual negatives associated with autism without necessarily effacing the positives. At the very least, it could save the lives of a whole lot of mice.

Next from Emily: Research with “human subjects,” the research that deserves a “Most Pointless Award,” and why Simon Baron-Cohen (yes, it’s true) may have presented the most interesting results at this conference

Monday, May 21, 2012

IMFAR 2012: Highlights & Takeaways

Shannon Des Roches Rosa
www.ThinkingAutismGuide.com

TPGA editors at IMFAR 2012
We had a great time at IMFAR; it was important that TPGA be present, given our mission to support evidence-based autism information. I wish more autistic people and people whose lives include autism -- personally or professionally -- would or could attend. We'll keep posting summaries and insights for those of you who couldn't go. Here are my general observations and takeaways.

IMFAR 2012 's goal was to present the newest research conducted over last year, with a particular effort to include presenters from outside autism science whose research overlaps with or has implications for autism. This may be why the science often, though not always, seemed a bit softer than 2011. With the result that in some panels, I would just … stop typing after a while, because it was clear the material would not be terribly useful to TPGA readers. (Though some breakout sessions like the Anxiety panel were better than anything I heard at IMFAR 11 -- we'll be reporting on that panel in depth.) 

Sometimes the science elicited an "Oh please no," as when Ruth Feldman's keynote on Bio-Behavioral Synchrony and the Development of Social Reciprocity. When Dr. Feldman started talking oxytocin and points like:
  • The evolution of mammals implies that bio-behavioral synchrony is learned within the "nursing dyad" and the context of mother-infant proximity.
  • Synchrony spans the period of early gestation to weaning: in humans early pregnancy to the end of the first year.
  • Postpartum maternal behavior is a species-specific repertoire that is needed for growth and development.
  • There are two mammalian mechanisms by which the social context impacts the infant's physiology, both of which rely on tactile interactions.
...then even Geri Dawson, Autism Speaks Chief Science Officer, remarked afterward that she too was worried about Feldman dragging us back into Refrigerator Mother territory. Thankfully Feldman stated unequivocally, later in the talk, that while kids with chronic exposure to depressed mothers have higher levels of psychiatric disorders and lower levels of social engagement and empathy, there is no evidence linking maternal depression to autism. However she proposed that oxytocin can have a buffering role.

It seemed reasonable that we encountered much eyebrow-raising science, given that IMFAR generally features pre-peer-review material. We encourage you to keep this qualification in mind as our IMFAR posts appear.

As mentioned in our Press Conference summary, INSAR encouraged autistic people and other community stakeholders to participate at IMFAR 2012, as volunteers, etc. However there was no method for identifying Autistic people at the conference, other than as Stakeholders. And as many of us know, you can't necessarily tell if someone is autistic by looking at or talking with them.

I understand some autistic folks not wanting to identify themselves publicly, but it seems a conference about autism and Autistic people should at least promote the option to do so. (TPGA contributor and self-advocate Corina Becker took matters into her own hands by writing  "AUTISTIC" with an arrow pointing to her name, on her badge.)

We also heard, repeatedly, that many autistic people who would have liked to attend IMFAR weren't able to do so because the conference is really, really expensive. Though there are ways to partially or fully cover costs -- attending as a member of the press, ASF travel grants, INSAR's own IMFAR travel grants -- according to Corina Becker:
"IMFAR [is] financially inaccessible to lots of autistics. I'm going to be in debt for a while [...] I think that the only way I got to IMFAR was due to the fact that it was so local and I do have the privilege of having a credit card, a job, and various other financial resources (I'm working on selling artwork and bracelets locally). I understand that these are privileges that not every one has, and it causes autistics to not be able to attend research meetings.

"However, I think it's not just research meetings like IMFAR that we need to have meaningful inclusion with, but also in participating to conduct research. That being said, IMFAR has been a great chance for me to engage young research students in discussion and I made sure to bring up autistic inclusion in conducting research. From the response I received, most of those I talked to were very enthusiastic about it and my suggestions for the direction of their research."
How many autistics can you count?
(Note that Mr. Shore's answer may be different than yours.)
It was surreal to be sitting among autistic people while, as Estée Klar noted, most researchers spoke to the audience as "us" and about autistics as "them." Our group often handled this disconnect by cackling uncontrollably (to the point where we fretted about being tossed from the panels. Still, I hope the researchers heard us). And irony abounded, as when Marjorie Solomon talked about autistic people having unique strengths, like being less judgmental, and TPGA editor and self-advocate Carol Greenburg judged her with a pronounced eyeroll.

TPGA Science Editor Emily Willingham has specific comments about the oft-flawed relationship between autistics and autism science, with suggestions for improvement:
"Scientists generally seek collaborators out for their expertise in a particular area, and autistic people are the experts, particularly for behavioral/behavior interpretation and qualitative studies of autism, which is where I saw a whole lot of "othering" at this conference. In addition, autistic collaborators would be of great benefit in results interpretation for genomics and genetic studies and even translational studies, as they can provide insights that a neurotypical mind might overlook. I personally found a lack of autistic collaboration in many studies where it clearly would have helped, not to mention an overall impression that many, many researchers are so distanced from their "subjects" or the population they're evaluating that they end up infantilizing, othering, and marginalizing them with their language and interpretations without even realizing it."
Autism researchers should also read the Autistic Self-Advocacy Network's Operational Policy on Research Inquiries. Excerpt:
The Autistic Self Advocacy Network welcomes opportunities to assist researchers with grant proposals and research projects that utilize Community Based Participatory Research (CBPR or PAR) methodologies. The CBPR approach brings together professionals and community members to serve as equal partners throughout the research process, focusing on research that is relevant to the community.
Self-advocate Stephen Shore stood up at the Stakeholders' lunch and talked about this kind of meaningful inclusion for Autistic people. As many of the people who make IMFAR happen were in the audience, I hope they listened to and absorbed Stephen's message.   

I was also extremely pleased when Wrong Planet's Alex Plank interviewed Corina Becker -- Corina had much to say about autistic people and inclusion, and her interview video will round out Wrong Planet's channel nicely.

Carol Greenburg & Alex Plank talk to Simon Baron-Cohen
Our editors and contributors were constantly engaging with researchers and influencers regarding inclusion and other TPGA mission matters, and having intense discussions all over the conference -- Carol with Simon Baron-Cohen and Autism Speaks's Dana Marnane, Emily with John Elder Robison, Shannon and Jen with DSM-5 task force chair Sue Swedo -- to whom we gave a copy of the TPGA book, and whom we think could gain much insight from reading our TPGA Slice of Life series. Several discussions led to interview agreements that we believe will enrich this site and your brains.

I came away from IMFAR with a renewed desire to see more non-scientists attend -- not just autistics from outside the research community, but anyone with a deep autism connection, whether personal or professional. It is crucial to forge connections with autism researchers, because insurance companies, schools, and policy makers rely heavily on those researchers' findings. So it was wonderful to see the Boston Higashi School's Executive Director Michael Kelly and Principal Deborah Donovan attending IMFAR. Sadly, word on the street is they're the exception rather than the rule. I'd like to see that change. And hopefully more inclusion and attendance opportunities will be available for next year's IMFAR 2013 conference in San Sebastián, Spain.

Sunday, May 20, 2012

IMFAR 2012: Decompression Interlude

We'll be posting about IMFAR 2012 over the next week or so, once we all catch our breath. In the mean time, see if you can identify the four people in this photo, which was taken when said folk peered over an iPad after nearly an hour of intense discussion. (Hint: All four have contributed original writing to this site.)

Saturday, May 19, 2012

IMFAR 2012: An Update on the ASD DSM-5 Recommendations

Sue Swedo M.D. 
Chair, DSM-5 Neurodevelopmental Disorders Workgroup

An Update on the DSM-5 Recommendations for Autism Spectrum Disorder and Other Neurodevelopmental Disorders

We spoke with Sue at length both at the IMFAR Stakeholder's lunch, and after her IMFAR talk. Any errors or omissions in this summary of her talk are on TPGA. -SR

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The goal of the new DSM-5 is clearer criteria, changing all PDDs (Pervasive Developmental Disorders) to ASDs (Autism Spectrum Disorders). This is group's thoughts on what they are and are not concerned about.

In addition to 11 full time members of DSM 5 task force, they have 2 dozen advisors. It's been a five-year process. She's deeply appreciative to all of her colleagues.

They never expected to be making headlines, the DSM is a bit dry if you sit down and read it. They were shocked when the headlines became about stealing services from 2/3 of the people with autism, when they were being accused of fudging numbers to make diagnoses go away. But their intention: Do no harm, do NOT overlook individuals with ASD.

It is not their intent for Aspergers' folk to be removed from the DSM-5. There will be no subtype for Asperger's as there is in the DSM-4, but there will be a number of specifiers to help identify affected subjects.

DSM-5 is really not that different from DSM-4. But they are trying to improve diagnosis sensitivity, especially for older kids & young adults, women, underserved and minority populations. It is possible that under the new criteria, the number of individuals with autism will actually increase.

Requires impairments that interfere with functioning. Trying to avoid people getting "mild" diagnoses and then agencies, schools, insurance thinking that those ASD folks don't need support.

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Recommendations for Changes to the PDDs
  • Three diagnoses will become two: 
    • Social communication
    • Restricted & repetitive interests
  • Rett disorder and other etiology subgroups will be described by use of Specifiers: Associated with Know Medical or Genetic Condition or Environmental Factor.
  • PDD will be replaced by ASD
  • Individual diagnoses will be merged into a single, behaviorally defined disorder*
*Has resulted in most controversy, push back etc.

Bottom line: Can't distinguish on basis of DSM-4 between ASD & Asperger's. In DSM-4 Asperger's should be more significant than ASD -- has significant impairments, ASD has qualitative impairments

Sensitivity & specificity of proposed DSM-5 diagnostic criteria for ASD

Rememeber that current DSM5 criteria are *recommendations*. New DSM hasn't been written yet.

In head-to-head comparison, DSM-5 is more inclusive -- it picks up more individuals than short list of specific behaviors -- junior high schoolers, college students, etc.

Some folks say we'll be picking up fewer toddlers with new DSM-5 criteria. But this has to do with timing of onset: Symptoms may not fully manifest in a child until social pressures exceed capacity. May not happen until they are older.

Decision not to include Asperger's
  • Lack of specificity & sensitivity in separating ASD diagnoses.
  • Lack of accurate historical information about very early language development puts emphasis on current speech (trainable) e.g., monologue about Pokemon is not conversation
  • Overlap in samples when VIQ (Verbal IQ) controlled
  • Considerattion of access to services
Specificities
  • Severity of ASD symptoms
  • Pattern of onset and clinical course
  • Etiologic factors
  • Associated conditions
  • Individual weaknesses and strengths
----

Swedo said it hurt like hell when she was accused of trying to hurt kids & adults with autism by trying to deny them services. Her team started this five-year process with the caveat of "first do no harm." With the goal that people with Asperger's would remain eligible -- but also "wanted to give consideration for 'Aspies' who don't want to be diagnosed."

DSM5 task force continuing to do work, the are meeting again in June.

Question from the audience for Task Force Team

Q: Did screeners get same results from DSM-4 & DSM-5?

A: Mostly, Handful missed by each test -- but may be explained by changes in behavior w age.

DSM-4 not the gold standard for ASD diagnosis, if it was, Swedo & task force wouldn't have been asked to fix it. Have been working on this for over 5 years now, haven't yet done own prospective data collection -- will now look at that to establish validity.

No point in using DSM-3 or DSM-4 data/diagnoses -- need to rediagnose folks with DSM-5 criteria, and expert clinical judgement. Make sure descriptions are rich enough to provide descriptors of function across the lifespan AND spectrum.

Q for Swedo from transgender self-advocate: Concerned that task force will be erasing Asperger's identities by erasing diagnoses. Asperger's made her a success, not a burden. Many folks will feel lost, in limbo, without Asperger's diagnosis. Implores Swedo directly to not remove from #DSM5

A: Swedo says DSM-5 will not remove Asperger's, will be retained in rich, detailed specifiers. Asperger's will be a specifier. But not a subtypes, e.g., PDD-NOS will be removed as well. All will be "autism."

Q: Will loss of Asperger's diagnsosis make things problematic with insurance companies?

A: Mostly, up to insurance companies. But they're hoping for a smooth transition with the new, clearer criteria, in changing all PDDs to ASDs
   
Geri Dawson came to the mic and made a statement: How will this affect prevalence? Dawson says we don't know, but AS is funding study with CDC where prospectively will be comparing DSM-5 against DSM-4, and how this will affect prevalence and case identification -- based on case records, hopefully this will answer some of these questions as we make this transition, provide continuity. (Dr. Dawson noted afterward that this study is in the process of being board approved.)

Friday, May 18, 2012

IMFAR 2012: Genetic Variants in ASD

Any omissions or errors in this summary are on TPGA; we have tried to include explanatory links for specific scientific terms. -SR

Common and Genetic Variants in the Etiology of ASD: Where is the Field Heading?

Bernie Devlin
University of Pittsburgh
Statistical geneticist, helps design projects & studies.

Dr. Devlin's goal: convince you that we know quite a bit about the genetics of autism, in a few years we'll know more.

Exciting times! Are those times going to continue? Devlin maintains, yes.
  •     Using array-based tech & high throughput sequencing,
  •     Samples and collaboration
He considers that discovery of autism risk genes is going to increase exponentially in near future.

How will we get there?
  • Autism Genome Project (AGP)
    • Trios: Mother, Father, ASD child
    • Families could be multiplex (2+ ASD individuals per family) or simplex (1 ASD individual per family)
  •     Simons Simplex Collection (SSC)
    • Families are mostly quartets (Mother, Father, ASD individual, sibling)
    • Family fully phenotyped
    • Non-ASD sibling fully characterized for comparison

SSC CNV (Copy Number Variation) Study
  • Performed same analysis as AGP, but with SSC data, including de novo events.
  • Conclusions:
    • Most CNVs not relevant for ASD risk
    • More de novo events are related to ASD but not all

Many of our discoveries involve rare events. Rareness challenged statistical inference, and really depends if they arise de novo or not.

Gene Richness: Are they hitting a single gene in that region? Or are they hitting multiple autism risk genes in a single CNV? If so, how can we find them?
  • Smaller events
  • Gene expression, how altered by CNVs
  • Sequencing analyses, look for differences re: controls
All three could work!


Overall results:
  • Recurrent gene disruptions identify ASD genes
  • Older fathers throw more mutations, older moms contribute too

Negative impact of damaging CNVs on rate of de novo SNVs
  • We need to capture more genetic variation in the genome if we're going to understand this better.

What about standing variation (SNV)? (His term for inherited genetic variation, de novo or otherwise, that was undetected)
  • The signal for risk genes is not so obvious.
  • Recessive/Compound inheritance is a bit more promising, but signals still not outstanding
  • Similar in pattern to CNV results -- but still insufficient to understand ASD risk genes completely
  • Useful complement to de novo studies

Why de novo?
  • When you look at them as CNVs or SNVs, do a better job of producing more ASD risk genes
  • Even though rare, have much better signal to noise ratio
    • Half of all de novo SNVs are hitting autism risk genes
    • Half of all gene rich de novo CNVs also contain autism risk genes
Autism Sequencing Consortium
  • Goal: collaboration to analyze worldwide sequence data for ASD gene discovery
  • 7500 families + >1500 probands/controls

The key piece of info is that for every two nonsense events that fall on the same gene in autism probands, one is an autism risk gene.  There's a heck of a lot of info there. If we're smart about it and pool our data and analyze it with emerging technology, we'll identify the autism risk genes more specifically.

Autism is binary (you have it or don't) from a diagnostic space, but geneticists see it as a continuum.

Heritability
  •  AGP estimates that heritability of ASD is ~60% for multiplex families, ~40% for simplex families.
Conclusion

We actually know a great deal about the genetics of autism, and within a few short years we'll know a lot more. We'll have a fairly large yield of autism risk genes within the next few years, which will yield sensible drug treatment targets.

Momentum for discovery of autism risk genes is huge and due to:
  •     Pooling data
  •     Funding   
In five years, research into autism risk genes even become passe because we'll know so much. Translation will be the key for ASD in the near future

Footnote: Devlin thought important to state that the notion Genes or Environment is outdated -- we need to consider Genes AND Environment.

IMFAR 2012: On Communicating Autism Science

Speaker Dana Marnane and
TPGA editor & self-advocate Carol Greenburg
This session was geared towards scientists, regarding why it makes sense to learn how to communicate autism science; how to write a a great article, and how to get your quotes in to articles. Alison Singer of the Autism Science Foundation put together and chaired this panel. Any errors or omissions are on us. -SR

The speakers:
  • Jane Rubinstein: Media Training 101
  • Karen Weintraub: Working with the Press
  • Dana Marnane: Communicating Directly with Families and Other Stakeholders
JANE RUBINSTEIN, Rubenstein and Associates

Data show that only 58% of academic scientists are involved in media outreach -- 78% of women, ~40% of men. 5% of participants created more than 50% of media quotes. Scientists queried cited lack of time as main barrier, but large number felt lack of skills in media relation as primary barrier to media participation.

What is PR? Public Relations secures upped media coverage in outlets including:
  • TV
  • Newspaper/magazines/print
  • Online
  • Radio
  • Social media
Scientists need to embrace all of these sources for getting your message out.

Media Goals

You want to start your research with the premise that you'll be publishing the results, even if they're negative. Have to consider that context. You want to get your best message out.

PR vs. Advertising

"PR = placement you pray for, Ads = placement you pay for."

PR
  • You cannot script for the reporter
  • No control on timin other experts, edition,
  • High credibility
Ads
  • High degree of control
  • Less credibility
Plan in advance

How/when/where you announce results: Peer reviewed journal? Conference?

Embargoes
  • Are getting shorter, they do matter, but you have to plan accordingly and carefully.
  • Traditional media will respect the embargo.
  • Blogs typically lack editorial practices [hey! -SR], will violate embargo -- so get sign off on embargo with bloggers.
Media matters!
  • Make plan and stick to it!
  • Start Early.
  • Work with your local media and become a "go-to" source. Will pay dividends on your own papers.
  • Publicity is part of publishing & perishing these days.
Maximize Control Over Your Message

Key Messages & Press Releases
  • Key Findings
  • Rules of Three: Have three points you want folks to remember

Reality Check
  • Is this ready for prime time? Ready for curve ball questions? (The media is fascinated by autism, but that's not enough -- you need to show how your work is important.)
  • How do your results advance research?
  • Is your work original, or replicating?
  • "N" factor -- how big is your study? That gives it context.
Interviews
  • LISTEN to the question
    • Pause before answering, take a breath. You'll appear more engaged.
    • Don't jumped to answer.
    • Control your head not
    • Take a breath and assemble your response
    • Do NOT fill dead air, they may be trying to lure you off-message
    • NOTHING IS OFF THE RECORD
Have a PR person listen in on your call, they can moderate, and can give you feedback & constructive advice.

Don't hesitate to have your points written down and in front of you on radio/phone interviews!

Getting ready for Interviews
  • Practice, practice, practice, out loud.
  • Increasing your comfort level will allow you to sound more natural.
  • Keep to your talking points.
  • Positive, authoritative.
  • Pivot phrases: phrases that allow you to control transitions -- prep for them, e.g., "That's not my area of expertise, but what I think is most important is..."
  • BE AVAILABLE WHEN THE MEDIA CALLS -- do not book up your calendar during the time your results are published! Media is all about deadlines, call back quickly, be responsive, help the reporter do their job and they will be appreciative.
Control Your Interview
  • Don't presume reporters are prepared
  • Don't assume just "standard" questions.
  • Keep responses short and to the point, use the "12 second test" -- audience won't get it, will get lost if answer is too long.
  • Keep reporting key messages no matter what, especially with curveball Qs
  • Answer the question you want to answer, not necessarily the question you were asked.
  • Treat every interview as live -- be positive, be poised.
Yes, No, I Don't Know

Yes or No questions -- it's more complicated than that, but what's important to remember is
"I don't know" is OK, you can say "let me get back to you," or "What I can tell you is."
And if you instead give a referral, you may make a friend with the reporter -- you'll become a go-to source.

Good Techniques and Body Language
  • Better silent than "um"
  • Head Nods - NO NO NO
  • Facial Expressions -- TV exaggerates them
  • Do your head movements agree with your message?
Repeat the name of your institution throughout the interview.

If you have lapel pin of your institution, wear it high up -- you want to be branded (or have it behind you if possible).

Goodbyes

Use your Goodbye as your last tool, e.g., " Thank you for having me, it was important to explain xxx,"

----

KAREN WEINTRAUB is a freelance journalist.

Journalists are not all evil, not out to get scientists. They do get excited about new things and stories, want to help people understand our world.

Her goal is to tell a story that's new, distinct, compelling -- and get it on the cover of the NY Times.

Remember: you are a specialist, she is a generalist. Her life is not all about your science, she doesn't have the time to become a complete expert on your science. She appreciates your passion for your work but she doesn't have time to consume it all. Don't expect her to have read all of your papers and books.

Her reality is different than your reality -- you are thoughtful and deliberate, she is flying by the seat of her pants -- freelancers especially only get paid when they publish.

Different media formats have different needs, but they all hate jargon and acronyms. Do not assume shared knowledge of acronyms!

Most media sources need images, radio needs sound bites; "If I don't have an image, my story will run lower on the page."

She's looking for personal, human stories. Wants to bring them to life. Without personal details the stories aren't the same.

Reporters need sources who will make their lives easier -- sources who will call back, give good quotes, etc.

Distinctions between media types

TV News
  • Hard to find experts, e.g., there are no autism TV specialists.
  • Have very little time to come up to speed. Don't expect a lot of thought from TV reporters re: the conversation.
  • TV reporters in particular -- "all went into journalism school because they're not good at math" -- if you throw numbers at them, they can't do anything with them. Maybe one pie chart...
  • Extremely dependent on what you say. They can't fabricate your comments or fill in the gaps. They need to lift your words and put them right int he story. They especially appreciate visual and metaphoric language.
  • Static shots of the lab where you work are not interesting!
Radio
  • Also a lot of time pressure. NPR tends to be a bit less stressful re: turnaround, but still high stress. 
  • Requires detailed descriptions -- have to create image in peoples' minds.
  • They need people do be direct.
  • They need pauses in the conversation so they can cut the tape/edit.
Print
  • More likely to find someone who specializes in autism, at least somewhat.
  • Need greater depth and detail, can lift out the parts they need from your interview.
  • Not every sentence has to be quotable, but some. Reports quote personal or visual sentences -- the ones that make the story come alive.
  • Need more sources, will ask you to point to other people -- it helps the reporter do her job.
  • Weintraub interviews differently for USA Today than for Nature, keep this in mind.
Why should scientists talk to the media?
  • If you're funded by the federal government or stakeholders, you have a responsibility to communicate your findings.
  • Weintraub has been through the process of helping doctors write books, thinks the process of reviewing the work through a reporter's eye helps the doctors understand their work better
  • From a superficial level, the more thoughtful you are the easier the journalist's job is, and that gives you more control over your message.
  • Good interviews, succinct interviews lead to a relationship with the journalist, they'll come back to you as a resource.
What makes a good story?
  • Much has to do with timing. Is the news currently experiencing doldrums? Or has there just been a major natural disaster?
  • Heroes are great stories (e.g., Matthew Savage graduating from Berkelee College of Music).
  • Sometimes there are games afoot: NY Times downplayed recent CDC numbers announcement because the CDC played favorites, and gave it to the anther source first -- NY Times felt it wasn't "their" story, so they didn't run it on the front page [Ed note: this is not insider info].
  • Boston Globe also downplayed the CDC numbers story because they don't have an autism expert. Also not distinctive to Boston.
Why call a reporter back quickly?
  • The first people reporters talk to are the ones who shape the story. Later sources fill in holes.
  • Call back quickly - within an hour/15 min if really big deal/Headline, within a day for a longer feature.
Why does Weintraub look for "critics"?
  • She's not a science expert, she needs to bounce your info off other people.
  • She uses comments from other scientists to get a deeper understanding of the work in question, and to make sure she's not being taken advantage of.
How to become a go-to source
  • Be the kind of person who's easy to reach, reliable, credible.
  • Make sure the reporter knows more about you than your name and title.
  • Build a relationship with the reporter
When to go off the record
  • Ideally, never!
  • Only with reporters you trust and know -- or from reputable organizations
  • To explain scientific politics, help the reporter figure out a context they would not learn on their own.
Why Weintraub doesn't like to show sources their quotes 
  • It takes time
  • Sources want to clutter them up with acronyms and names of colleagues, jargons. She can't use that.
Why Weintraub can't show sources whole story aforehand
  •     Violation of journalist ethics
  •     Once her story runs, she doesn't own it, e.g., she only runs excerpt on her own site.
----

DANA MARNANE
, Autism Speaks

Dana's talk was geared towards talking with autism families. TPGA editor and self-advocate Carol Greenburg asked Dana a question and talked with her after the session about how best to include autistic people in media coverage -- she and Dana agreed that the media has a responsibility to include the expertise of autistic people when they consult "experts" like scientists, and that the media should put more effort into serving as a bridge.


Families want more than the basics. They want to know what they can do right now to help their children. Families think -- I can't change my genes, how can I help my kid? How do we talk to parents?

Common thread among families is isolation. Others truly believe in autism-vaccine causation. Your job should be to acknowledge what they think, but then tell them what you know.
   
They don't want:
  • Medical jargon -- can be incomprehensible
  • Condescension. Find balance, use lay language, but don't dumb it down.
They want to know options open to them.

What is Lay Language?

Keep it simple!   
    New, not novel
    To, not "As a means of"
    With, not "In conjunction with"
    "Genetic environment," not epigenetics

Be able to explain concepts like the difference between Risk vs. Cause, as parents don't' always get this.

Parents increasingly use social media
  • Facebook
  • Blogs
Can what you say appear in a blog?
  • Yes. Know your info and translate it for families.
Should you do an interview with a parent blogger?
  • Sure, but nothing is off the record.
  • Also, people will comment.
  • So, who will check that blog? Your University, e.g.?
Consider doing webchats.

Case in point: CDC approach for families after the CDC autism rates were announced:
  •     Advocacy Briefing
  •     Webchat for families
  •     CDC Web Page
  •     Lay Summary
  •     Stories with families -- sought these out, to put a friendly face on the #s and bring them into context.

Thursday, May 17, 2012

IMFAR 2012: Autism - Friendships in Adolescence

Beautiful Toronto is a lovely setting for the explosion of information at IMFAR 2012. One way we are trying to bring the conference to those of you who could not attend is by using Twitter to "live tweet" sessions and events. Later, using Storify, we can piece back together those 140-character bites of information. The following is the Tweet story of an oral presentation entitled Friendship in ASD through the Life Span: Nature, Trajectories, Importance and Treatment. Any errors (including hastily-typed misspellings!) or omissions are mine. Please follow @thinkingautism, @jennyalice, @shannonrosa, @ejwillingham, and @aspieadvocate for more IMFAR 2012 conversation.The conference is using #IMFAR2012 to make finding and sharing information easier.-JBM 

Tuesday, May 15, 2012

IMFAR 2012 Press Conference

Alison Singer of the Autism Science Foundation introduced the speakers in her role as co-chair of IMFAR public relations committee. She noted that INSAR has encouraged autistic people and other community stakeholders to participate at IMFAR, as volunteers, etc.

TPGA coverage of IMFAR will start in the morning! Don't forget to follow us on @thinkingautism, and check back here for updates.

----

The first speaker was the president of INSAR, Helen Tager-Flusberg:

This conference's goal is focusing on the very best science, and the immediate dissemination of it.

INSAR, the International Society of Autism Research, is moving into second decade. The first conference had approximately 200 attendees, and was tagged onto neuroscience conference in Orlando, Florida. This year's conference will be the largest ever, with well over 1800 people in main the main conference. (There is also a pre-conference on disseminating IMFAR 2012 work to parents, clinicians, and other stakeholders in Canada and the greater Toronto area.)

INSAR is not just a small scientific club any more. Its work is seamlessly integrated with the community's stakeholders, and would not be possible without people with autism and their families.

At this year's IMFAR conference, we'll be hearing the newest research conducted over last year. At the same time, we have to keep in mind that these presentations have not undergone the rigorous review as when papers are submitted for publication. This is preliminary, might not be complete, haven't yet undergone peer review as per part of the very best science process. So keep this context in mind when hearing about latest autism research findings.

----

Stephen Scherer, University of Toronto, co-chair of IMFAR 2012 Scientific Program Committee:

The advisory committee had submissions from folks from all over the world, spent a long hard time looking over the proposals for presentations. Each abstract was reviewed by at least two people from the advisory committee, many of them will lead to scientific publications. This is the first glimpse  of this data in many cases, and everything will be presented in a research format.

In selecting the theme, in this 11th year of IMFAR, the goal was to look forward 10 years and see where autism science will be in 10 years, that guided the selection process for the speakers and presenters.

Discovery, treatment, dissemination are IMFAR 2012's primary themes. Sub-themes include behavioral science, application of particular drugs, gender bias -- studying the 4:1 male/female ratio among autistics and the genetic implications for autism research, biomarkers toward treatments and therapeutics, etc. The committee really tried to bring scientists from outside autism-specific research to the conference, as they bring a unique perspective to field of autism research , eg. genome scientists, behavioral scientists, etc. They've also included a lot of imaging science.

What's different in autism research over last decade is that autism is a model for studying other disorders. Not uncommon to see autism papers in major journals like Nature; we didn't see that 10 years ago. But now autism is pushing the whole field of medicine forward, e.g., many genome studies focus on autism first.

----

Dan Messinger, University of Miami, Baby Siblings Research Consortium (BSRC)

Autism spectrum disorders (ASDs) tend to run in families but there is little info on high risk siblings. Last year, the BSRC  reported 19% of siblings of ASD kids will have autism at age three. Now the BSRC is examining the remaining 81%. At three years, used gold standards to assess these children.

There was definitely a difference bewteen high risk siblings (HRSs) & controls. HRSs had slightly more difficulty than peers using language, sorting objects, for instance. All showed slightly higher rates of autism-related behaviors: lower levels of back-and-forth play, lower levels of pointing.

Next used grouping analysis: 2/3 of high risk children fell into a group with low-level autism related behaviors and typical development. The remaining 1/3 fell into 3 groups (see slide below):
  1. Moderate ASD behaviors & high typical development
  2. Moderate ASD behaviors & low typical development
  3. Low ASD behaviors & slight delay

They also compared these factors to typical differences between girls and boys at that ages. Overall -- girls tend to be typical more often. So boys are doubly at risk. But high-risk girls may face additional challenges because of different social expectations for girls.

If we combine high risk siblings already identified with groups facing challenges, this comprises 50% of high risk siblings.

1 out of 3 high risk siblings had higher autistic behaviors, low typical development. However 3 yrs old is early, and we don't know how things will change, so follow up is necessary to evaluate high risk

Takeaway: Many infant siblings of autistic people/kids could still benefit from early intervention even if they don't have an ASD diagnosis.

----

Dr. Ilanit Gordon, Yale Child Study Center

The focus of Dr. Gordon's work is oxytocin and autism. This is the first study to be approved on subjects at such a young age (7 - 18). Is an international collaboration.

Large-scale study targets the impact of oxytocin on social behavior and brain function in kids and adolescents with ASDs.

Oxytocin is a naturally occuring substance in the human brain and body. The synthetic form, pitocin, helps speed along births.

Lately has been having big media coverage for its role in social function, also lots of attention from the autism community as a mechanism in the etiology of ASDs, and as a possible treatment for social dysfunction in autism. Currently there is a huge gap between what's actually known about ASD and oxytocin, and the interest in that relationship.

This is first double blind placebo-controlled autism and oxytocin study to use fMRI (functional magnetic resource imaging). 

7 - 18 year olds were given nasal spray; the image below compares days of placebo spray vs. those of oxytocin administration -- the researchers are seeing very big changes in fMRI images.



These images show the kids going through multiple tasks, so really highlighting potential of oxytocin beyond single task.

Hoping this is a first step in developing interventions with oxytocin administration, hoping this will lead to treatment for social dysfunction in ASDs.

After a question from the audience about "refrigerator mother" implications or correlations from the study, Gordon clarified that all studies include men & women, oxytocin is not a "female" hormone, fathers show similar amount of social engagement when parenting compared to mothers. It's a human hormone, has to do with many processes, not just social -- our hearts, GI tract, etc. The researchers are interested in learning more about it and devising best treatments.

None of the researchers feel like they are seeing or looking for oxytocin/autism cause-and-effect at the moment. Goal is to devise treatment options.

Tager-Flusberg also added that there were no difference in the oxytocin levels between mothers of ASD and non-autistic kids, nor the fathers. So even if oxytocin has a role in ASD, it's not due to the parents.

BSRC doesn't see difference in how mothers of high-risk babies interact with their babies compared to typical controls. Biology may involve risk levels of higher oxytocin. But those are clearly not being transmitted through parents' interactions with the babies.

Scherer: Underlying message with autism in last few years: heterogeneity. 100s of forms of a disorder that looks the same in general clinical attributes. While there are some specific genes involved in brain development, there's still no single answer or cause. It's very heterogeneous. When we learn about one specific aspect -- like the role of oxytocin -- it gives us more answers, but not a definitive answer.

Families who want to participate in the study should contact Dr. Gordon.

--

Teresa Bennett, McMaster University

Study of over 400 kids throughout Canada, regarading developmental trajectory of kids with ASD of all abilities (The idea came out of a stakeholder's conference: study's lead investigator asked families in particluar what they wanted to know. And the main thing that came out was they wanted to know how will to know as early as possibly how kids will fare over time: they wanted predictors & pathways.)

We often think of kids with ASD in terms of commonalities. But the trajectories developmentally vary quite a lot -- in terms of level of support and ability. It's general thought that how well a young kid with ASD can use language in early years is primary predictor of eventual outcome.

But the researchers wondered if early social competence (evaluated using Vineland Adaptive Behavior Scales) might be more important than language as predictor (see slide):


Social competence at time of ASD diagnosis has a high correlation with language development. However strong social language was not a strong predictor of social competence.
Initial advantage of social competence: led to better language, which then led back to increased social competence. Preschoolers with ASD who also have social competence tend to have improved language. Kids without social competence tend to have delays.

Findings from this cross-Canada study -- if we can focus on social competence, we can start "cascade" effect to support/improve other competencies.

----


Rebecca Landa from Kennedy Krieger and Johns Hopkins

Infant sibs are at increased risk for ASD, as well as mild social and communication delays. Those are areas that are typical re: what we think defines autism. But literature shows that ASD folk oft have motor development issues as well.
In typical kids, early motor development is important indicator for development -- because babies use their bodies to learn about the world, e.g., they reach out to engage with people.

Study conducted regular evaluations from 6 to 36 months of age. Kids were three groups: ASD, non-ASD but with mild social & communication delays (Broad Autism Phenotype, or BAP babies), & typical. Studied whether or not babies were able to keep head aligned with back when pulled to seated position, at age 6 months.
  • At 6 mos, of the babies who went on to have ASD, 93% had "head lag." (14 out of the 15 babies who went on to have ASD.)
  • Of the BAP babies, 53% had head lag.
  • Of the non-autistic, non-BAP babies, 30% had head lag.
Take home: we have extended the findings of motor difficulties of older ASD individuals into infancy. Important, because can't really use social markers at this age -- many ASD kids have typical social behaviors, e.g., eye contact.

So if a baby has head lag AND an older sibling with ASD, this may provide an opportunity for early intervention and support.