Pittsburgh PA. October 18, 2016 – With much of biomedical science moving toward individualized medicine, one investigator says that a disturbing trend exists in the diagnosis of autism spectrum disorders. Based on the analysis and interpretation of over 2,000 studies on autism, Dr. James Lyons-Weiler thinks that there is much to lose by re-classifying specific types of autism “simply because we know which genes and proteins are involved in specific cases.”
In the vast majority of cases of autism, it’s not the genes that cause the disorder, says Lyons-Weiler, it’s genetic susceptibility to environmental exposures. And, he says, all of the research on autism genetics supports that very few cases of autism have a purely genetic basis.
“Society deals with diseases and conditions at the population level. The attendant risks, the costs, the processes and mechanisms of disease have been based on what doctors can see, and what symptoms patients are experiencing or exhibiting,” says Lyons-Weiler. “Following the last round of re-classification of autism,we have lost parts of the spectrum based on one or two studies that conclude that a specific type of autism is actually another syndrome. That’s reckless for the patients, who rely on specific diagnoses for an understanding of what they have.”
“The best examples are Rett’s Syndrome, which is attributed to variation in the MeCP2 gene, and Timothy Syndrome, in which calcium channels misfire causing a host of symptoms. We have plenty of patients with autism that have MeCP2 loss of function without Rett’s Syndrome, and that exhibit calcium channel dysfunction without Timothy Syndrome. For all of these patients, the diagnosis should be ‘Autism Spectrum Disorder (ASD) caused by MeCP2 loss of function, or ASD caused by calcium channel dysfunction.’ We should not remove Rett’s Syndrome and Timothy Syndrome patients from the ASD category. We must meet autism wherever it presents.”
This is more than a classification difference, he says. A specific diagnosis of ASD allows individuals to utilize certain services and medical benefits. And, he says, as research continues to discover that hundreds of genes are implicated in autism, but that no single gene explains more than 1% of cases of autism, the concern is that children with autism will be given unusual and unhelpful diagnoses.
He says that medically, doctors should consider the “unique differences” as atypical forms of the general, and not overdraw conclusions about what conditions a patient has simply because a specific gene may be involved. “In differential diagnostics, especially in molecular diagnostics, there are lumpers, and there are splitters. In this case I’m afraid in the long run the splitters will do more harm than good.”
His extensive research has led to a new book, The Environmental and Genetic Causes of Autism, in which is cites many examples of conditions thought to be different from autism due to the contributing effects of genetic variation at specific genes.“We should certainly use the knowledge of specific genes with loss of function to tailor treatment, but we need to meet autism wherever it presents itself.”
Lyons-Weiler is best known for rigorous approaches to complex data analysis in many studies of complex diseases, including cancer.
“We know that different genes can contribute to the same types of cancer in different patients, but we still call it cancer,” he says.
Autism rates have soared from the 1970’s from 1 in 10,000 to 1 in 68in the U.S., and as high as 1 in 45in some states.
“Autism has such a strong environmental component, pediatricians should actively search for environmental exposures. The most useful and humane diagnosis they can give their patient is ‘encephalopathy-mediated autism’, and if vaccines are suspected, ‘vaccine-induced encephalopathy-mediated autism,” says Lyons-Weiler. “Then not only can parents seek the educational and medical services their children should receive, but they can also have their case considered by the Special Masters in the Office of Special Masters of the U.S. Court of Federal Claims.”
Since 1988, the National Vaccine Injury Compensation Program, administered by the Court of Federal Claims, has found in many compensated cases that vaccines may induce encephalopathy, with autism occurring as a sequelae, or consequence.
Not all share Lyons-Weiler’s perspective. But he thinks he has found a morally robust and scientifically sound perspective. “We neurotypicals need to start compensating families for injuries that many have incurred, through no fault of their own, as the CDC has attempted to protect the general population from infectious diseases with inappropriate one-size-fits all vaccine schedules. We owe the injured not only compensation, we owe them a deep respect due that acknowledgesthe sources of their injuries, which should not be in vain. Their injuries show us that personalized medicine, with prescreening for injury-susceptibility, is the only ethical approach to immunization.
This perspective refocuses the personalization of medicine on the need to acknowledge specific mechanisms so tailored medical approach and treatments can be worked out. This, says Lyons-Weiler, should including personalizing the vaccine schedule and acknowledge family-specific risk, based on genetics and other health factors. In this way, he says those with “autism-genes” can avoid exposure to environmental factors that cause autism.
When asked about what else about diagnosis of autism he has uncovered, Dr. Lyons-Weiler reports: “Some people think that regressive autism was lost in DSM-V. But I’ve found it. It’s in there. You just have to know where to look.”
His next book, The Environmental and Genetic Causes of Autism, is due out in November from Skyhorse Publishing.