Can New Genetic Findings Help Families Choose Therapies for Autism?
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Yesterday, a group of Harvard researchers reported the discovery of six genes which appear to be associated with autism. In many cases, it seems, these genes are present - but inactive. And in some cases, it may be possible to actually activate those genes - thus (in theory) improving brain function.
According to a story in the Boston Globe,
...Walsh [a member of the research team] said the Science paper combines work done in his lab on genetic mutations that cause autism with research by his Children's colleague Michael Greenberg on brain cell activity changing gene activation. The two scientists both presented their work at a meeting in January.Walsh's last statement is intriguing. To my mind, it seems to suggest that many of the treatments already being used successfully for autism may actually be doing just what he's suggesting: "turning genes on." In fact, any of the behavioral or developmental interventions that involve intensive 1:1 interaction should be effective at some level."I showed my list of autism genes and he showed his list of plasticity of genes," Walsh said. "We found a lot of genes on both lists and that occurred much more frequently than expected by chance."
That led to their hypothesis that in autism, brain cells are unable to turn genes on to make new brain connections.
...Symptoms of autism arise between age 1 and 2, when the child's developing brain is refining connections between its nerve cells triggered by experiences, Walsh said. Genes that are not functioning normally do not allow this process to take place.
The research may also explain why some autistic children improve after repetitive interventions that perhaps jump-start previously turned-off genes.
"Sometimes the genes aren't completely inactive. We know that intensive training or enriching of the environment in animal models has ways of turning genes on that would normally be silent, [bold is mine]" Walsh said.
Just playing devil's advocate, though - it seems to me that while ABA, Floortime, RDI, and related therapies are in fact intensive, and ABA is particularly repetitive, two far less popular therapies are MORE intensive and repetitive. These are SonRise and the Rapid Prompting Method. Perhaps, based on this research, these two approaches deserve more focused research!
Comments
Lisa Jo
I appreciate the effort you make to show different perspectives in discussing autism issues. In this instance though your neurodiversity perspective has gotten the better of you when you say “it seems to me that while ABA, Floortime, RDI, and related therapies are in fact intensive, and ABA is particularly repetitive, two far less popular therapies are MORE intensive and repetitive. These are SonRise and the Rapid Prompting Method.”
Of the methods you mention ONLY ABA has a substantial evidence basis in support of its effectiveness. References: AAP 2007, NYSDOH 2005, MADSEC 2000, US Surgeon General 1999.
My daughter has just sent off a Sonrise DVD for us. She couldn’t believe that I’d never heard of it before.
Best wishes
Actually, Harold, that was my point. Given the new findings, it might make sense to put more time and money into finding out whether Sonrise, RPM and other intensive therapies can be as – or more – effective as ABA.
ABA, while it certainly has a lot of research behind it, comes with a lot of issues. There is historic baggage (Lovaas’s very scary early days); there are financial issues (ABA costs up to $70,000 ollars a year, while RDI at its most costly is closer to $15,000 – and SonRise and Floortime can be almost cost-free.
ABA, in my opinion, has another significant issue connected with it: its delivery varies radically from setting to setting. Of course, this is true of any program – but it seems to me to be likely that much of the research associated with ABA involves top notch therapists, and not the most commonly-hired young people with little training or experience.
Bottom line: ABA certainly has a lot going for it. But given its limitations, why not dig more deeply into other options as well?
Lisa
Autism Treatment Center of America™ promises “recovery” for Autistics who are involved in the Son-rise program. One does not recover from Autism any more than one recovers from red hair.
Additionally, the ATCA claims that “there is not [sic] clear, agreed-upon cause of Autism.” This is incorrect. Research from the Autism Genome Project presented in February 2007 and supported by a number of other studies around the world has shown that Autism is genetic.
The ATCA also claims that one of the causes of Autism is “heavy metal overload in children with Autism.” The fact that they would even mention Chelation Therapy … a quack therapy that is potentially fatal for children … further detracts from any faith one might have in their Son-Rise program. And that they would give credence to the GCFC diet only further underscores the questionable nature of their Son-Rise program.
I remember reading about 5 years ago, the story of a family in Chatham, ON who had, with the help of their community, worked the Son-Rise program for their son with Autism. They announced he was “cured” of his Autism just like the ATCA said he would be.
Buyer beware, that’s for sure.
So while the ‘basics’ of Son-Rise as they are presented on the website sound supportive and positive, I balk at the concept because of the other associations hooked in to their Son-Rise program.
I think turning these Off genes to the On position is not going to be all that fast a process, if they can turn them on at all. No one yet knows if these interventions are turning them on, or if the child is progressing simply do to repetitive therapies.
It seems that although children with autism can and do progress, much of their autism still always remains. I think all of the listed interventions can help and often do, for some kids. However for the most part portions of autism criteria remains to some extent. There is also no way of knowing if these Off genes are suddenly turned On, if the child would go into ‘gene turned on shock’, or how to use those new turned on genes with out on going therapies. We also have to consider what we’re talking about with each listed therapy, many parent focus on lack of speech or certain behaviors of autism. Autism does consist of more than just those two things.
These findings are exciting, but we have yet to know where the On button really is, and for each child, that button may be located in different area’s.
1) Not all genes can simply be “turned on” if they are “off.”
2) If they can be “turned on” one needs to be aware that doing so risks “shorting out” other genes.
3) It is not only “turned off” genes that are associated with autism but gene variants or mutations. It may mean that those particular genes do more than just give a person autism. They might perform some vital function. Turning on or off other genes might cause these variant genes to undergo some sort of radical adjustment, alternation, augmentation, burnout, etc.
My point: As simple as the article makes it sound, there is no simple treatment or cure for autism, so parents will continue to need to buckle down and “treat” their kids with the only known and best form of treatment there is: Love, compassion, understanding, and a willingness to understand.
when talking about the effects of turning on and off genes one must remember the Rett gene/mouse study. One of those accidents of scientific research. The Scientist didn’t think anything would come of it. But when he did add a drug that effected the on/off gene switch the mice started to loss their Rett symptoms. Also the drug for TCS I wonder if it is affecting an On/Off gene switch. It would explain the sudden change in learning ability.
As far as vaccinations and environment stressors. The body always has back up systems. Maybe these genetic types had a back up system to learn from the environment. Maybe some environment stressor caused it the backup system to fail. It would explain the rise in other mental types like ADHD. These people do not have all the genes of Autism but the environmental stressor shut off the backup system . therefore decreasing the person’s ability to learn from the environment.
Just a thought
I am glad to see that the SonRise program is receiving some attention.
My son was dx PDD-Nos 3 years ago. We wanted to help our son, immediately, but there were no ABA services in our area and too costly to fly in therapists. We found out about the SonRise program and were on a plane the next month to MA to the Autism Treatment Center for America. It is the most amazing place that I have ever been to…they not only taught love and acceptance for our children but gave us the tools to help us REALLY connect with our child.
I do want to correct one previous post…The Autism Treatment Center NEVER “promises recovery”. They will say, we have no idea what our children are capable of and it is our limiting views that often limit our kids. In the right motivating environment, we connect with them and invite them to come with us to our world…it is really up to the child as to how much progress they make.
I will say, the year that we ran our home-based SonRise program, it was the best year of our lives. We had 5 volunteers working with our child one-on-one for about 30 hrs./wk. It was so much fun to really connect with our child and see continual improvement. He has done phenominal and even entered mainstream 1st grade the next year. He is in 3rd grade this Fall with very little accommadations (teacher comes to help in class with writing). He is social and has friends, and the teacher even reported that he is the most well-liked child in the class. So, I do believe that it is possible to “turn on” the genes that are not previously activated….we saw it occur with our eyes in our child over the year we worked our SonRise program.
Audra- I’m right there with you! My boy is PDD-NOS too, dx at 2 1/2 years old, but had 1-on-1 therapies since 22 months. We did our own Floortime-type activities with him, taking cues from his 3 therapists. Then he went to an integrated pre-school that focused on DIR/Floortime techniques, continuing speech/lang and OT at the school and home, and now has just completed an integrated kindergarten program with flying colors. Still has to work hard on social cues, but is well liked by his peers and teachers. The improvements were evident very early on in him therapies, but we were never under the dilusion that he would be cured. He is who he is- a smart, charming, quirky child, who has lots of potential! I do believe that his intensive therapies in the beginning had everything to do with his current successes, you could actually almost see something (genes?) turning on in his brain at times, and we still see it today.
Harold L Doherty says:
The lovass studies were faulty and newer more controlled studies put aba success as more modest
newer studies like temple university put sensory integration as a real therapy so to say ABA is only therapy shown through studies to be successful is no longer true and many Aba therapists now add sensory integration as the reinforces
Sonrise has some interesting concepts but I think their recent embrace of The Defeat Autism Now method does more harm than good and goes against the sonrise philosophy of accepting the autistic as a person to make connection work.
I do floortime but more as a way to make other therapies more fun.
I find my daughter’s cognition goes down with ABA but if I make the therapy fun and engaging instead of drills with rewards it works better.
I think true autism is mostly genetic and not caused by immunization though other chemicals and smog might aggravate the condition.
Since it’s from birth insurers should pay.
Sorry coppied the says by mistake
This fits in perfectly with a comment I left back on April 14 of this year. I discussed that Autism looks a LOT like an epigenetic change. Epigenetics is the “on”/”off” language encoded on our DNA. It is just as important as the genes themselves because it determines which genes are “expressed” and which are “suppressed”.
These “on”/”off” switches can be “flipped” by environmental exposures. E.g., Smoking, diet, toxic chemical exposures, immunizations, they all affect our epigenome.
Remember in the 1990s when science promised to unlock the cure to thousands of diseases once they mapped the human genome? Well, they mapped the genome. Then they realized it was not the end, but only the beginning. While a few diseases are known to be caused by the presence or omission of one or more genes, it turns out that most diseases may be the result not of whether a gene exists, but whether it is activated or not: “epigenetics”.
The epigenome is designed to work with the immune system and other systems to create a genetic “memory” of an exposure and use that exposure to modify the expression of certain genes in the index and subsequent generations.
A good way to think of it is that the GENES are the HARDWARE, and the EPIGENETIC information (”on”/”off” switches) is the SOFTWARE.
And all of those epigenetic effects are incorporated (or “stored” as a “memory”) into the epigenetics of one person, then passed along via our sperm / eggs to successive generations.
That is why older identical twins cannot donate organs to each other without immunosuppressant drugs. The twins’ epigenetic information changes during their lives — each according to his individual exposures.
Epigenetics could well explain why older parents are more likely to have an autistic child; because the older parent is more likely to incur epigenetic changes over their lifetime, then pass those changes on to their child.
It could also explain why immunizations seem to play a significant role. Immunizations, and the adjuvants in them, are designed to perturb the immune system to get a desired response. Along with the desired response of an antibody titer protecting the host, the immunization may also be doing damage or flipping “on” and “off” some epigenetic switches.
The complexity of the epigenetic storage of information is only now beginning to be understood.
There was a landmark study about the very significant effects of the Irish potato famine on successive generations of Irish people who were born long after the famine was over and who were not themselves subjected to any malnutrition. Depending on how old their grandparents or great-grandparents were in the famine (pre- or post-pubescent), the effect on the second and third generation either extended or shortened their lifespans markedly.
I’m sorry, but I cannot recall the citation to the study. You can probably Google it though. It was the subject of a PBS “Nova” episode, too.
Also, it appears that epigenetic information can lead to omissions or replication of genes during transcription. That might make some of the changes irreversible. Or it may just complicate the treatment, as genes would have to be reinserted -and- reactivated or inactivated. We’re probably still 30-50 years from that capability.
I agree with everyone who said that intensive therapy might be flipping the genes back “on”. That is not far-fetched at all. Not every cell throughout the body may be flipped on by any given exposure, but enough might be flipped “on” by intensive ABA therapy to jump start some areas. Maybe the genes are being flipped on, or maybe the stimulation simply causes some type of compensation to take place.
After all, the brain is a lot more plastic than we thought. Through hard work, almost anyone can learn almost anything. Depending on how badly the “wiring” is shorted out, it appears that a large number of autistic kids can show really substantial gains / compensation / or restoration of function.
Our 2-1/2 y.o. son is making good progress with 3 hours per week of “early intervention” ABA by state employees, and we pay for an additional 3 hours ($50/hr) for Easter Seals “Lovass” therapists to come in. I have mixed feelings about the stern approach of the Lovass folks, but it all seems to be helping.
I believe our son could do even better if we could afford more hours-per-week. Makes you feel like Oskar Shindler (in Shindler’s List). What improvement could “this watch” buy, or “this car”, or “this flat-screen tv”. I don’t mean to put it in such crass terms. But it’s true. We are continuing to work on spending less and increasing our income simply to be able to afford more therapy.
God bless you all!
-Bob
Audra Cameron wrote: “I do want to correct one previous post…The Autism Treatment Center NEVER “promises recovery”.”
That’s incorrect. I and a few other parents I know who are raising children with Autism were promised “recovery from Autism” for our children.
The parents of the child in Chatham in the story I referenced were promised “recovery from Autism” for their child and in the story, they stated that their child was “cured” because of the Son-Rise program.
Obviously, the promise of “recovery from Autism” has been made by The Autism Treatment Center in the past.
My son Joseph has been in therapy since he was 14-15 months old. His pediatrician noticed behaviour which he suspected was PDD-NOS. He was diagnosed at 18 months. He is now 3 months short of his third birthday and receives about 20 hours a week total of OT,ABA,Speech and developmental, as well as going to a childrens center twice a week for 4 hours each day. He has made progress and he is just starting to nod his head for no and yes. He also has abnormal brain waves(sharp waves and slow downs) and has under myelination. He is smart in some ways recognizing, numbers from 1-100, all the letters of th alphabet, shapes , colors and animals. We saw a neurologist and she was talking about medicating him. We do not want to go that route at all sighting unknown side- effects down the road. My question to any of you that do have children with PDD-NOS is : did any of your children have the brain wave problem and under myleination. Also have any of your children had speech delays and if so, when did they start talking. Thanks.