By Katie Wright
I have to hand it to Dr. Jeremy Veenstra-Vanderweele (henceforth referred to as VV). Somehow, despite a decade of failure into “rare genetic subtypes = ASD treatment” research, VV remains optimistic. But I suppose it is easy to be optimistic when you are spending other people’s money, right? Why give up if you are being handsomely subsidized to fail? This is the classic autism research business model! Right out of Dr. Rob Ring’s and Dr. Tom Insel’s playbook: keep failing and blame consumers for being too “demanding.”
The title of Dr. VV’s lecture was unintentionally funny: “Research Pathways to Autism Treatment.” For years, the “pathways” Dr. VV has been speaking about so optimistically have sadly run straight into brick walls. Dr VV and his colleagues have achieved exactly 0.0 successes, but you or I knew this would be the case all along, right? Assuming the study of tiny genetic subtypes would yield treatment interventions applicable to all never made any sense.
VV, Buxbaum, Rob Ring, Paul Wang, Mark Bear etcetera … have all bet the house (with our money) that the study of ASD people with rare chromosomal abnormalities will yield treatment for all those with non-syndromic autism. The idea was SO naïve from day one. One cannot successfully drug autism away. Successfully treating the debilitating symptoms of autism involves matching the problem with a solution.
I wish those FX, TS, McPhelan families nothing but the greatest success. They are fighting the same battle as you and I. FX, TS and McPhelan Moms and Dads want better lives for their kids. Their kids deserve better lives. Unfortunately, what helps kids with “syndromic autism” is unlikely to help the other 95% of autism families.
Recently a MIND researcher finally got curious about why “ASD genetic subtype” research never succeeds. What took her so long, right? Anyway she was studying a group of “ASD” kids with the 22q deletion. Upon closer examination of the group the investigator discovered that none of the 22q kids in the autism study actually meet the criteria for autism! Yes, these children have cognitive challenges and sometimes sensory issues but that is the sum total of the commonalities. Could it be that the “autism is genetic” research industry has been shoehorning non-autistic kids into the ASD category because it fits their storyline (autism IS genetic)?
Christian’s school used to accept a number of FX and Angelman’s kids but it always turned out to be a bad fit. Socially none were really on the spectrum and rarely needed the type of treatment the moderate to severe ASD kids in the school receive. The school’s director began to believe most of these children had been misdiagnosed with ASD. The cognitive challenges presented by FX are similar to autism but no more akin to autism than Down Syndrome is to autism.
Despite the massive absence of success in the “rare chromosomal disorders will = ASD treatment,” academia’s enthusiasm for this research has not dimmed at all. Quite the opposite! So many researchers jumped on this bandwagon years ago, thrilled to be able to pursue this politically super safe, easily fundable “autism is genetic” science. The fact that almost no one in the real world autism community wants this research is as immaterial as all consumer and taxpayer concerns are at the NIH. Too bad! The dozens upon dozens of FX/TS ASD- abs must keep going!
Let’s examine the “Pathways to Treatment”
J & J: Risperdone. FAILURE – additionally J & J lied about the significant and dangerous nature of Risperdal side effects and was fined hundreds of millions by the Justice Dept.
Novartis: mGluR5. FAILURE
Seaside: Baclofen. FAILURE
Roche: EU AIMS. FAILURE
Autism Speaks: PACT. FAILURE
AS Science President Dr. Rob Ring blew over $2 million of AS money on PACT – basically another rare genetic subtype = treatment project. That project has also yielded 0.0 successes. Ring also blew over one million dollars of AS money on EU AIMS which has achieved nothing but endless talk and empty promises.
VV tried to spin this never-ending series of failures by hypothesizing that the drugs could have failed because investigators were testing “wrong dose, wrong amount…” More like Wrong Everything. Wrong hypothesis, wrong controls, wrong study design and wrong intervention…Dr. VV admitted “the results thus far have been a little depressing,” but that we can “still expect his research to yield potential treatments.” Why? How? Based on what? It’s like a genetic research fantasyland.
I read a fascinating paper by Moss and Howlin from Kings College London called “ASD and Genetic Syndrome.” The authors found, upon close examination, that the vast majority children with “syndromic autism” do not meet criteria for ASD diagnosis. Yes, many children with FX, Angelmans and 22q share cognitive challenges and sometimes sensory issues but kids with MS, Cerebral Palsy and advanced Lyme Disease all suffer similarly and the vast majority are not on spectrum. Doctors are quick to diagnose these children with autism if they see intellectual disability. Many doctors believe they are helping these children gain access to more intense therapeutic services with an ASD diagnosis. Giving an ASD diagnosis to kids with Fragile X is almost a matter of course; rarely is a full battery of tests even performed.
My feeling is that if an ASD diagnosis helps a Fragile X kid, good for them. Great! However, to use kids with “syndromic autism” as templates for all ASD kids is absurd. Clearly, so crystal clearly, none of this research is succeeding.
f only the NIH actually cared about a return on our investment! After 10 years of nonstop failure one would think they would have let go of the “syndromic autism” model, but no, they continue to invest a massive amount of funds into this politically palatable dead end.
While NIH-funded researchers, ACE centers and the Autism Treatment Centers fund endless “learn the signs,” brain-imaging (guess what -- ASD peoples’ brains are less responsive to social cues! Study #250) and Fragile X-going-nowhere science (11,000 such studies!), these are examples of the innovative and relevant ASD research being paid for by our families.
1) Methylation, redox, immune dsyregulation, identifying and treating – Dr. R Deth
2) Diagnosing and treating metabolic and mitochrindrial disorders in ASD – Dr R. Frye
3) PANDAS treatment in ASD -- Dr. R Trifiletti
4) Treating allergies, chronic constipation and sleep problems – Dr. J Kartzinel
5)Lyme disease, Autism and Autoimmunity- Dr. K Bock
All these researchers studied common problems in the general ASD population (not problems among the 5% with rare chromosomal issues) AND developed real treatment interventions. Once again, they studied REAL problems and created solutions.
If only the NIH had invited Frye, Deth, Trifiletti or Bock to lecture on actual “Pathways to Autism Treatment!” These researchers actually have some something to share, rather than endless, expensive failure we subsidize.
“Autism in Fragile X syndrome: a Category Mistake?” Reiss et al. 2010
“The Fragile X Syndrome -- Autism: what do we really know?” Thurman et al. 2014
Katie Wright is Contributing Editor to Age of Autism.