Complexity of autism keeps treatment elusive

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This story was filed by CBS Radio News correspondent Barry Bagnato

Public Service Announcements by the group Autism Speaks leave many people believing they're hearing about a single, defined disease.

"I think someone at my friend's school has autism," one of them says. But the word "autism" covers a myriad of conditions.

"It's a catch-all term," says Dr. Michael Ronemus of the Cold Spring Harbor Laboratory on Long Island, New York. He's a co-author of one of a series of new studies in the journal Neuron revealing how genetically complex autism spectrum disorder really is, and how challenging it will be developing treatments that impact a broad-array of ASD patients.

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For the first time, scientists estimate that genetic variations in at least 250 locations give rise to autism. Further complicating things: A great number of these mutations are spontaneous.

"In many cases with human diseases, you can find an inheritance pattern and this means something that's present in the parents is transmitted in the child," Ronemus says. "These pedigrees don't typically exist with autism."

The researchers followed about 1,000 families, consisting of both birth parents and in most cases two children, one with ASD, the other unaffected. This focus on so-called "SIMPLEX" families makes an analysis of genetic variations more accurate, they say.

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Ronemus says the implications of identifying specific mutations are potentially significant.

"If these can be screened, then you can say... this is the likely outcome... this child needs early intervention of a certain type."

This research suggests ASD is so diverse, effective treatments will only benefit a small number of patients with similar traits.

"We'll probably end up with dozens if not more specialized courses of treatment," suggests Ronemus.

No wonder there's confusion among the parents of autistic children.

"There's a lot of information out there for families and doctors and unfortunately a lot of that information doesn't carry a lot of data behind it," complains Dr. Jeremy Veenstra-VanderWeele.

An autism expert at Vanderbilt University, Veenstra-VanderWeele has conducted an extensive review of approaches currently being used.

"Quite frankly, a number of practitioners in most communities are doing things that don't have any evidence whatsoever and may not even make sense." He finds clear benefits from only two medications -- risperidone and aripiprizone -- and then only for some children.

Veenstra-VanderWeele believes families and doctors are driven by frustration to try treatments "off the beaten path."

"We need medicines that actually reflect what's going on in the brain in autism," he says. "To a large extent, we don't really know what's going on in the brain, so that may be some distance away."

[SkepticalMom]

Autism becomes much less complex when you approach it from the standpoint of environmental toxicology. The past ten years of research have focused almost solely on genetic research which has yielded no useful results. The fact that researchers have found hundreds of de novo mutations in autistic children simply means that there is something CAUSING the de novo mutations. That something is in our environment, it is different from what children used to experience, and it affects males and females differently, probably because of synergistic toxicity with testosterone. While mainstream practitioners scratch their heads, talk about what a puzzle it all is, and write a scrip for psychotropic pharma meds that treat symptoms rather than underlying pathology, there is a whole world of other researchers and practitioners who have been treating children for years using scientifically valid biomedical and nutritional protocols. Perhaps this study will finally enable the geneticists and the immunologists and environmental toxicologists to begin conversations that should have been happening all along. At the very least, this study shows the considerable value in looking at affected children clinically, rather than epidemiologically.

[slartibartfastibast]

The Journal of Evolutionary Psychology just published a paper that supports the hypothesis that the confirmed neanderthal admixture event(s) provided cognitive variations that were subsequently selected for, sometimes causing a locus of deleterious recombinations in the genomes of children with parents who had selected one another for those characteristics.
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An excerpt: "The autism continuum could represent a remnant of genetic introgression that took place before humans were the lone species in our genus. Perhaps some of the genes for autism evolved not in our direct ancestral line but in a solitary subspecies which later merged genetically with our line of descent through gene flow."
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The paper is titled "Conceptualizing the Autism Spectrum in Terms of Natural Selection and Behavioral Ecology: The Solitary Forager Hypothesis" and it can be found here: http://www.epjournal.net/filestore/EP09207238.pdf
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More info can be found in the Wikipedia discussion of the "Causes of Autism" page (including two neanderthal genes strongly implicated in autism (CADPS2 and AUTS2), as well as evidence of neanderthal art and communication (they shared FOXP2)): https://secure.wikimedia.org/wikipedia/en/wiki/Talk:Causes_of_autism#Neanderthal_Admixture_Hypothesis and if that link doesn't copy properly: http://******/mzLu1e

[jcircle20]

What I find most astounding about this article is that if fails to mention behavioral interventions based upon Applied Behavior Analysis. This is intervention has more than 30 years of solid evidence behind it and has been recommended by the US Surgeon General for over 12 years.

[Floretta52]

They are not saying "autism isnot really autism"; they are saying autism is not one disorder but a spectrum/range of related disorders. My sister has Asperger's which is on one end of the autism disorder spectrum. She has some aspects of what is classically considered autism - problems with recognizing and properly acting on social cues, for example - without others. Was hers a spontaneous genetic mutation? We don't know. There is no one else in our extended family with any autistic-like behavior.

[kenhamlett]

It is refreshing to see someone admit that \autism is not really autism in most cases. I think the goal is to move most of these false labeling situations into categories of their own. \the problem is obviously that autism has funding so due to greed doctors automatically diagnose what will get them the most money.
I have one specific point of disagreement to point out.The story quotes "To a large extent, we don't really know what's going on in the brain..." In reality they know practically nothing about the function of the brain. That is why you can automatically discount the word of every neurologist, psychiatrist, etc and only minimally trust the word of a neurosurgeon and only in cases of physical damage to the brain.
When you see a white coat you know you are back in the dark ages.

[skeezix06]

Doctors don't get lots of money for diagnosing people who are autistic. I don't know where you got that idea from. The fact is that unless they have a physical disability, the doctor will probably be seeing them less often not more often.

[Justathought70]

About AUTISM...

I have twin grandchildren who are developing very differently at 18 months. In reviewing the current literature on Autism last week (Goggle), it was apparent that in the 20 years or so since I last worked in the field of psychology, the "Autism" terminology has become a "catch phrase" for a wide variety of developmental delay symptoms in children. As such, we are looking at potentially many different conditions and causes of developmental problems which will certainly make diagnosis and treatment difficult.

I found it interesting that many studies found significant results or findings in approximately 1/3 of their subjects. many of these results would seem to be consistent with possible Mitochondrial dysfunction which could interfere with energy production and normal functioning of neurological, digestive, immune and muscle systems. For at least those children, supplements to improve Mitochondrial function could be helpful. Also about 1/3 of Autism subjects in at least one study had an over abundance of lactic acid. Cause or Effect??

I agree that it is past time for the definition of Autism to be narrowed and/or sub groups identified by symptom and functioning so effective treatments can be developed and evaluated.

Further literature reviews and follow-up studies are indicated.