Normally, this time of year I read and re read the IACC Autism Research Strategic Report. The report highlights autism research priorities that the committee believes the NIH should fund. Usually, I am aggravated by the endless over emphasis of basic science and recommendations for the millionth “learn the signs of autism” research (redundant if anything ever was). For the record there are tens of thousands published studies on the early signs of autism, we do NOT need more, we need physicians to read what exists! Same problem for early intervention research, there are thousands of published studies. The problem is lack of service providers, not lack of research.
However, over the past few years, I have been pleasantly surprised by new IACC research recommendations about the need for treatment for ASD/ Gi disease, autoimmune dysfunction, the need to study housing options, the child to adult transition and self-injurious behaviors. For the record, medical research must be conducted by GIs or autoimmune experts, NOT psychologists or psychiatrists, as it often is. These are medical, not psychodynamic, problems.
Despite improved IACC recommendations, funded NIH autism research remains EXACTLY THE SAME. The NIH has completely ignored the IACC Strategic Plan. The same universities and researchers at Yale, John Hopkins, UCLA, UCSD, Emory, Univ of Washington etc. all receive the bulk of the funding to do the same antiquated research that NO stakeholders or taxpayers (do not want their money wasted!) want done. Tragically, the vast majority of the NIH funded research is wasteful, redundant and frankly, pointless. There is a reason families feel like no progress is being made. It’s because NO progress is being made.
I seriously doubt any of the mystery men and women (have any of them actually met a kid like mine? Doubt it!) secretly choosing autism grants even read the IACC report! There is certainly no evidence they have! New research recommendations are wholly ignored and the same ridiculous multimillion $ eye gazing, rare genetic variant, genomic boondoggles are fully funded year after year.
For example, let’s look at Yale’s MacPhartland’s Autism “biomarker” project. Yes, biomarker in paratheses because it is too ridiculous to be taken seriously! The “biomarkers” include eye gazing and interviewing! MacPhartland excludes all severely ASD kids, all children with epilepsy and Gi problems from his “biomarker” study! How can you develop ASD biomarkers after excluding half the ASD population?? It’s so stupid, it’s painful. Yet, this ridiculous project will rack up nearly 10 million dollars!
Autism Speaks funds very conservative research. However, even AS no longer funds “rare genetic variant” research! Previous AS Science Director, Dr. Frazier believed it was not fruitful and, frankly, irrelevant. Fragile X, Tuberous Sclerosis, Timothy Syndrome share some overlapping symptoms with autism, but they are not autism as lived by 99.99 ASD people. The percentage of ASD people supposedly, living with a rare genetic variant is grossly inflated and most cases do not fulfill DSM dx criteria. I have never even heard a stakeholder ask for more of this research, but wow, NIH loves to fund it!
The following are just some of last year’s NIH “Autism” grants that neither apply to, nor help anyone with autism. Timothy Syndrome study, $350,000, FX Gene Knockouts $450, 000, 3D Model of Genetic Mutations, $500,000, Fragile X $500,000, Mental Retardation and FX $450,000, Mitochondria and FX, $600,000, genetic variants $1.2 million. In total probably $15 million of taxpayer money wasted on this dead-end research that neither stakeholders nor IACC wanted funded. It is appalling.
While we are on the subject of waste and redundancy, let’s examine how the NIH continues to needlessly saturate “learn the signs” research with money as if it were 1990. The goal to create autism awareness among the public and medical profession has largely succeeded, we need to move on! Yet the NIH “dx and learn the signs” research STILL the major research focus of big ASD research centers: ACE (Autism Centers for Excellence), Eunice Kennedy Shriver, ECHO and more. NO ONE is asking for more learn the signs research. No one! The hundreds of millions of dollars currently spent on this subject should be spent on researching studying the transition from childhood to adulthood and associated inherent biological and logistical (housing) challenges. All stakeholders want this subject well-funded.
While the vast majority of NIH funded autism research goes towards basic science, critically important, IACC prioritized subjects have gone virtually unfunded. IACC mentions the importance of investing in “co- occurring” medical conditions in 5 places in the Strategic Plan. Unlike rare genetic variants or FX, GI disorders actually affect approximately 40% of ASD people! IACC recognizes that ASD/ GI disorders are tremendously debilitating and advocate immediate treatment research. Stakeholders regularly plead for GI treatment research. Parents see how their child’s GI pain renders them unable to learn or sleep.
However, the NIH has never funded ONE ASD GI treatment study. The few GI studies they have funded tend to be “the genetics of GI problems” or “the psychology of GI problems,” frankly useless work. The fact that the NIH chooses to ignore this topic for 20 years demonstrates how little they care about ASD people. If addressing life ruinous pain isn’t important, what is?
IACC has also called for much more safety research into elopement and drowning. We must develop programs and resources that help parents keep their child safe and help police find missing ASD children. The NIH has funded 3 small research projects. None of the safety research projects add up to the cost of one of the 25 Fragile X studies funded last year.
Finally, IACC advocates more research into early life environmental exposures. Right now, the majority of autism environmental research is invested in the hypothesis that fat old moms cause autism. I think I can speak for all ASD Moms when I say this is insulting and stupid. Advanced maternal age a risk factor in EVERY developmental disability, autism, less than most. Obesity a tiny issue among ASD Moms. According to environmental scientist, Dr. Irva Hertz Pinchero, these factors account for possibly 2% of autism. We need environmental research on infant exposures and corresponding behavior changes, not nonsense.
The brains, lungs and immune systems of newborns and toddler are immature but rapidly developing. Their blood brain barrier more delicate. They have an immature detoxification system. Babies and toddlers come into greater contact with toxins than adults. They crawl on the floor, put random objects in their mouth and are constantly in contact with dust and dirt. We need research into the effects of flame retardant on infant mattresses, pollutants, pesticides, cleaning products, bisphenol A, mercury, phthalates. The effect of these toxins on babies has barely been studied although all forementioned exposures are known to cause neurological damage.
At least 25% of ASD kids develop typically for a year and then lose language and skills. Instead of just taking pictures of their brain, as in Piven study, we must examine co-occurring environmental exposures. We need to track exposures, medical records at the same time MRI performed. Studying the brain in isolation helps no one and prevents not one case of regressive autism. ASD researchers must raise the bar. Rather than what is interesting to them, autism researchers need to think, how will this help people with autism? Are we delivering value to the taxpayer? Right now, the answer is “no” to both questions. Read the IACC report and get consumer grant reviewers. Clearly, the NIH autism grant reviewers has no sense of that is at stake here.