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Archive for September, 2016

preschool-children-smilingIn 2009, the government began a massive effort to collect environmental, genetic, psychological, sociological, educational and other developmental information from 100,000 people from before conception through age of 18. This effort, called the National Children’s Study, or NCS, was an incredibly important, but also a very expensive and labor-intensive study. Collecting information on the same person across development is the gold standard in understanding early markers of disorders like autism, developing strategies to alleviate suffering at different stages of development in childhood disease, and preventing certain life threatening diseases like cancer.

In 2014, the study was shut down after about 5000 people had enrolled. An expert review group had advised the head of the NIH that the methodology used was going to be way too expensive, and entirely too cumbersome. But the NIH still wanted to support longitudinal studies and created a mechanism so that it could be done another way. They took the money that was set aside for the NCS, and applied it to support the extension of existing cohorts. In this way, existing families that had only been interviewed once could be re-contacted again to become longitudinal studies. Additionally, money could be applied to add on to studies so that additional biosamples or behavioral measures could be collected and analyzed.

Earlier this week, the NIH announced the recipient of these awards, which are collectively being called Environmental influences on Child Health Outcomes, or ECHO. In addition to the studies themselves, funding will go to a data coordinating center to make sure the studies are collecting similar measures and they can be put into a common database or repository. There is also money to analyze samples that are collected.

We are happy to announce three studies with relevance to autism that were funded through this mechanism. First, Drexel will lead 14 sites to analyze the baby teeth of 1,713 siblings of children with autism. About 20% will end up with an autism diagnosis, but a high percentage of them who don’t have an autism diagnosis have a developmental concern like language delay or ADHD.   They will collect the baby teeth of these siblings, which parents normally save. Researchers can look at the layers of teeth much like botanists can look at the rings of a tree and tie an environmental exposure to a particular window of development. These baby teeth, together with genetic samples collected from the families, will be used to better understand environmental risk factors and genetic influences of ASD.

children-playgroundIn another study, Kaiser Permanente in California will capitalize on blood samples collected and analyzed to detect the presence of endocrine disrupting hormones during pregnancy on pregnancy outcome. Originally, the study ended the participation of the families before neurodevelopmental markers could be assessed, but now, through ECHO funding, these kids can be followed up and assessed for a variety of outcomes. They include, but are not limited to, neurodevelopmental outcomes like autism spectrum disorders. In addition to investigating risk of prenatal exposure to endocrine disruptors, epigenetic analysis of samples collected will be done to better understand genetic and environmental interactions and associations.

Finally, the CHARGE or Childhood Autism Risks from Genes and Environment Study, has ben enrolling children since 2003. The last time the children were seen was at the time of autism diagnosis, from age 2-5 years of age. Symptoms of autism change over time, and leaders of the study will be using funding to re-contact CHARGE participants as they reach adulthood. They will assess these individuals at older ages for attention deficit or hyperactivity symptoms; changes in cognitive or adaptive function; changes in severity or diagnosis; and symptoms of anxiety or depression.  The new study, called ReCHARGE, is expected to have information on 1,440 individuals with autism or developmental delay. Again, this was not possible without the ECHO funding.

Together, these studies will help researchers better understand the causes of autism spectrum disorders, the link to other diseases and disorders, and of course the life course of people with autism. Thank you to the NIH for providing the support which made these projects possible. If you want to learn more about ECHO – you can find information on the NIH website: https://www.nih.gov/echo.

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Autism Science FoundationBlog written by Cindy Everson

I remember vividly our drive to the neurologist with our 12-month-old son, Shane, in the back seat. We had been referred by his pediatrician due to the fact that he was not walking or crawling yet. As we approached the office my husband said, “It’s going to be fine.” Well, it wasn’t. With careful monitoring, about 18 months later, he was formally diagnosed with autism. Our second son, Joe, was diagnosed with autism at 20 months.

Our life became filled with behaviorists, in-home therapists, speech therapists, occupational therapists, neurologists, special education and much, much more. The days were hectic but the real challenge was dealing with and managing the obsessive behaviors and meltdowns that often happened. At times we felt very isolated from the rest of the world. Our kids could not participate in the activities most kids did, T-ball games, birthday parties, sleepovers. Even a simple meal at a restaurant was too difficult for them and us.

Shane and Joe are now 19 and 16 and enjoying a happy and healthy life. They participate in Special Olympics, love Disneyland and riding on our ATVs with their dad. Our oldest loves trains and our youngest loves asking people he meets about the cars they have owned! Our life is not without challenges and struggles and we continue to rely on our faith, family and friends for strength and support. It is often difficult for us as parents to know that there is much our children will not experience. Our life is still very different than those around us, as now our friends’ children are going to college, graduating from college, getting married and having children.

We were inspired to start a nonprofit organization called P.A.R. 4 Kid’s Sake in 2002, which raised over $1 million for autism research and local services. Now, we are inspired to make a difference by registering with the Autism BrainNet. This is a program that collects post-mortem brain tissue from people affected by autism. This resource is essential to help scientists understand the amazing brains of people with autism. For example, researchers just discovered that the number of traffic directing cells called “interneurons” that help connect different cell types are reduced in autism. This could explain why some people with autism, like my son Shane, sometimes feels overwhelmed with information. Also, there are differences in cell numbers in the area of the brain called the amygdala. This area is involved with brain circuits that control fear and anxiety, and future interventions that target this difference could help these behaviors and improve social interaction. Without knowing about the brains of people with autism, scientists will never understand the brains of people with autism.

We feel confident that someday these efforts will bring answers and we would love nothing better than to have our children be able to contribute and be a part of this. We encourage you to sign up to learn more by clicking here. There is no obligation be a donor, but you will receive updates and a newsletter with valuable information for families.

With gratitude,

Cindy Everson

Like the Autism BrainNet on Facebook, and follow along with us on Twitter.

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This blog is reposted with permission from the ASA San Francisco page.  It is written by Steven Prutsman, board member of ASASF and co-founder Autism Bay Area Fun.   It outlines his opinion on the differing needs and advocacy priorities for individuals on both sides of the autism spectrum.

At the end of a keynote speech at this summer’s national Autism Society of America conference, authors Caren Zucker and John Donvan implored the audience to quell the infighting among various autism advocacy factions. (Rodney King’s “Can’t we all get along” immediately came to my spectrum-y mind).Their point was that instead of squabbling among ourselves, we should be working toward the same objective: a better quality of life for all on the spectrum, so that all autistics may be safe, happy and thriving.

Their wonderful book “In a Different Key” touches on the fact that throughout its history, the word autism has lacked a clear and universally accepted definition, unlike many other conditions. Instead, the autism spectrum covers a multitude of differences. On one extreme, what I’ll call Camp A, are those who are independent, but different and quirky. Some leading self-advocates are in this group and some have described geniuses like Nicola Tesla, or even Socrates, as falling under this umbrella. And way on theother side, Camp B hosts the severely developmentally and cognitively impaired, the non- or semi-verbal, those with a host of often painful co-morbid conditions. And of course, there are myriad variations within and between these two extremes, each adding their own flavor to the word “autism.”
 
For those of us closer to Camp A the autism label has an almost philosophical meaning, a description of how we process the world, of an identity we have embraced. “I got to be me,” we say. “Accept me for who I am, with all my quirks.” “Support me with the accommodations I need.”  “Woe to those who use the A-word to describe in a negative way a severe disability.”

Others, in particular the parents of the Camp B, or classic autism, have seen their children and families suffer beyond measure as a result of the demands of autism. Head-banging, self-injury, heart-wrenching scenes of agony and tears: these are not “Rain Man” moments. These are bona fide PTSD parents, with stress levels like combat soldiers—always on guard, waiting for the next crisis, the next aggressive, injurious and bloody episode; parents who have dedicated their lives and savings to a myriad of medical interventions, therapies and care-giving.

They advocate for their children because their children often have no or limited spoken language and cannot do so themselves, and worry constantly for their children’s futures, their long-term housing and care. “Autism is a debilitating disability, not simply a quirky difference. Woe to those who put a cute and cuddly face on all of those excruciatingly painful moments, days and years we and our children have endured,” they say, exasperated.

In Camp A there are various unique personalities. In Camp B, the unique personalities are coupled with substantial developmental challenges. Camp A sees attempts to prevent, or treat autism as a form of judgment, a direct attack on the intrinsic self-worth of its members. Camp B sees the “embrace and celebrate autism” dogma as simplistic, demeaning, and lacking empathy for their families’ enduring painful struggles.

The medical and scientific communities are currently struggling toward clarity on how to draw lines and labels around the various forms of autism, meanwhile leaving those of us in the trenches with no choice but to make our own definitions, and tailor our advocacy efforts to where we or our loved one fit within theextremely diverse population that is currently broadly labeled as autistic.

“Full employment at a competitive wage for all autistics” becomes a priority for Camp A, while “Assurances that our severely developmentally disabled sons and daughters will be well cared for, and those without language and a voice will not be abused after we’re dead” becomes the plea from the other side. Why so different? Because, fundamentally and quite obviously, we are talking about extremely different underlying conditions, and not just one. The blind and deaf have different terms, not just a lumped-together “sensory input disorder.” We in the autism world have no such luck, yet. We are still lumped together, despite having such vastly different conditions and needs.

Until the folks of the DSM (Diagnostic and Statistical Manual of Mental Disorders) come out with a better labeling system for the autism varieties, it seems unlikely the bickering and polarization will go away: everyone will continue to think of the A-word as it relates to their own experience, and advocate accordingly.

Meanwhile perhaps the best thing we can do is to simply recognize these differences and not get into each other’s way. Parents of the severely developmentally disabled should not involve their time and resources in fighting against efforts to improve the lives of those of us for whom autism is a positive identity. And those in that camp should not spend their time attacking efforts of parents who labor to help their children.

Zucker and Donvan were right: autism infighting is unnecessary, we are wasting our precious time skirmishing over a fluctuating lexicon. So until the day our vocabulary catches up with the diverse biological, neurological, and functional realities that lay underneath the A-word, take off the gloves, and give each “autism” story the respect it deserves.

Stephen Prutsman is a concert pianist, composer, member of the Autism Society San Francisco Bay Areaboard, and co-founder of Autism Fun Bay Area, a nonprofit providing concerts and recreational events for special needs families. He lives with his family in San Francisco.

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