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News

‘Science junkie’ bets big on autism’s environmental origins

by  /  18 July 2016
Powerhouse parent: Jill Escher wants researchers to study how environmental chemicals affect developing eggs and sperm.

LiPo Ching / Getty Images

Jill Escher can talk knowledgeably for hours, and hours, about autism — about its prevalence, which genes and environmental factors may be involved and how brain development may go awry in the brains of children with the condition. Escher, 50, has no formal training in science, but she reads scientific papers, gives lectures at universities and speaks at conferences.

This self-described “autism science junkie” taught herself the intricacies of research as she struggled to understand how her two children came to have autism. Along the way, she came up with a provocative idea to explain how chemical exposures might have led to their autism diagnoses.

Her theory goes something like this: In 1965, when she was in her mother’s womb, hormones her mother took during pregnancy damaged the DNA in Escher’s eggs. (Girls are born with all the eggs they will ever have.) The hormones left her seemingly unscathed but, decades later, caused her two children to have autism. In other cases, tobacco smoke or chemicals such as hormones or anesthesia drugs may alter eggs or sperm precursors.

Convinced of this hypothesis, in 2011 she established the Escher Fund for Autism Research, financed primarily by a stock portfolio her husband acquired while working at a Silicon Valley giant. Each year, the fund awards one team of scientists a grant of up to $100,000. The goal of each project is to determine whether and how exposures in the womb track with autism symptoms in grandchildren or in mouse pups.

“I feel like this is just the very beginning of what’s going to be a long scientific journey,” says Escher. “I’m just trying to accelerate the pace of research into these ideas.”

Few autism researchers dispute Escher’s idea, but most say they think it is unlikely to account for many cases of autism. “It’s not impossible that environmental variation is important,” says Bernie Devlin, professor of psychiatry at the University of Pittsburgh. “But the question I have is how important is [her hypothesis] to explaining risk for autism.”

Others are more sanguine, saying just because Escher’s hypothesis is esoteric doesn’t mean researchers should push it aside. “Her ideas should not be ignored,” says Peter Bearman, professor of social sciences at Columbia University. “People ought to have a chance to design studies to test what she thinks.”

Germ of an idea:

Escher didn’t give autism much thought until 2001 when her son Jonny, then 2, was diagnosed with the condition. She stopped working as a lawyer to care for him, and began to study autism’s causes. Her interest intensified when her daughter Sophie received the same diagnosis seven years later. Both children, now 17 and 10, speak no words and seem to have the intellectual abilities of toddlers.

For years, Escher wondered how she could possibly have had two children with autism. Both pregnancies were uneventful, with no sign of any complications, such as infections, that are linked to autism. Neither she nor her husband has a family history of autism or psychiatric conditions. And genetic tests revealed no glitches linked to autism in her children’s genomes.

“To have two kids whose neurodevelopment went so badly awry out of absolutely nowhere was, and continues to be, a deep mystery,” Escher says. “Why would this happen?”

In 2010, she stumbled across research that suggested a link between in vitro fertilization and autism risk in the resulting children1. Escher had never used fertility treatments, but the study prompted her to ask her mother if she had used any. To her surprise, her mother said she had taken synthetic hormones when pregnant.

Escher eventually managed to get a copy of her mother’s medical records and learned that her mother had taken six hormones — including synthetic estrogens, progestins and corticosteroids — to prevent miscarriage while pregnant with Escher.

Escher still could not explain how the drugs related to the children’s diagnoses. A year later, she heard a “nutrition guru” on a podcast claim that what a pregnant woman eats can affect her future grandchildren by altering her fetus’ ‘germ’ cells — cells that become eggs or sperm, and later may become part of a fetus. Escher recalled that her mother had taken hormones throughout the first seven months of her pregnancy, including the period during which eggs in a female fetus develop.

“It occurred to me that maybe those drugs had some impact on my eggs,” Escher says.

Hormone hypothesis:

Escher contacted reproductive and developmental biologists for their take on her idea. She says they told her they did not know of any studies investigating the effects of those hormones on developing eggs or sperm. But they pointed her to research in rodents hinting that other hormone-like chemicals, such as pesticides and plasticizers, affect germ cells.

Emerging evidence hints that some synthetic chemicals may damage not just DNA, but also the ‘epigenome’ — the pattern of chemical tags that control how genes are turned on and off. Animal studies suggest that epigenetic patterns can be passed down through generations.

Aberrant epigenetic patterns in the brain could contribute to autism, but no one knows for sure whether an altered epigenome affects brain development in children or grandchildren.

Few studies have looked at how chemicals affect human germ cells. “We don’t traditionally think too much about how germ cells are affected by those exposures,” says Lisa Chadwick, health scientist administrator at the National Institute of Environmental Health Sciences in Research Triangle Park, North Carolina.

Even if chemicals affect the epigenome of germ cells in ways that are passed down, it’s unclear how this would lead to autism. “Just because there’s a change in the epigenome doesn’t necessarily mean that it’s going to cause a negative health effect,” says Dana Dolinoy, associate professor of environmental health sciences at the University of Michigan in Ann Arbor. “That is one of the critical barriers in this field.”

DNA damage:

Researchers now know that some people with autism carry rare mutations that are not inherited from their parents. “A big question in the field is, ‘Where are these mutations coming from?’” says Mark Zylka, associate professor of cell biology and physiology at the University of North Carolina at Chapel Hill. Geneticists typically assume these mistakes arise by chance as germ cells divide, but chemicals — such as those Escher wants to investigate — may cause the same sort of damage, he says.

Proving that the chemicals contribute to autism will be tricky, however, he says. “If you have some chemical that causes random mutations in the germ cells, the odds of it hitting an autism gene are low.”

Instead of trying to link a pregnant woman’s chemical exposure to autism in her grandchildren, it might be more fruitful to determine whether the exposure triggers spontaneous mutations in her child, Zylka says. “That’s an easier question to address,” he says.

Even if the answer to this question is yes, chemical exposures might account for only a small proportion of autism cases. Genetic factors confer a substantial portion of the risk for autism — at least 50 percent, according to the latest estimate. Rare, spontaneous mutations account for more than 3 percent of autism risk, and no one knows how much epigenome alterations might contribute.

Escher says her hypothesis evolves as she learns and communicates with scientists. “I welcome people asking uncomfortable questions and poking me; it only makes [the hypothesis] stronger,” she says. “If the day comes to pass that none of this proves to have any validity, then okay, another hypothesis bites the dust. But I have some ideas I think are important.”


References:
  1. Zachor D.A. and E. Ben Itzchak Res. Dev. Disabil. 32, 2950-2960 (2011) PubMed
  • Janet Heathcote

    I was prenatally exposed to similar drugs as Escher and now have three children with autism. I had no other risk factors and we had no autism before in our family.

    • Emily Paige Ballou

      Your family had no autism, or had no recognized autism?

      I was the first person diagnosed in my family…but I wouldn’t bet one red cent that I was the first autistic person in my family.

    • Kelvin

      That you know of. The diagnostic criteria has changed a number of times and had only relatively recently been widened, so you can’t say with any degree of certainty that you have no history of autism in your family.

  • Catherina

    I find this feature really problematic – based on a single anecdote of a lay person and very little scientific support that I can see, yet another layer of blame is put on (grand)mothers.

    What is more, the whole “hypothesis” takes for granted that there is indeed a real increase in autism prevalence, rather than just better detection, something that is quite heavily debated (and rightfully so, given the differences in autism prevalence between well-served and under-served States/areas) and distracts from the very real problem of supporting autistic children, teens, and adults.

    • Jill Escher

      Catherina, if all I had were a single anecdote I would have ceased my research philanthropy long ago. It was only after accumulating a number of family stories similar to mine, and seeing a pattern, that I really engaged with the scientific community (genetic toxicology, endocrine disruption, germ cell biology) to further explore underlying questions of biology.

      And how ironic of you to suggest that that my work somehow detracts from the urgency of addressing the crisis in supports and services. As president of Autism Society San Francisco Bay Area I am known as probably the single most outspoken activist in our state promoting desperately needed policy reform to address the ever-growing needs of people with autism, particularly the adults. See sfautismsociety.org to learn more about our many years of work in this field.

      Finally, the great weight of evidence suggests that beginning with births in the 1980s we have seen a dramatic surge in autism rates (for example, up 2800% in the California DDS system). Some of it is attributable to diagnostic artifact, but at least half of it, if not much more, is due to unknown causes. California’s data is limited only to the more severe forms of autism. While autism is highly heritable (strong reoccurrence among siblings) it is not highly inheritable (few cases in ancestry). This points to at least a subset of cases involving genomic dysregulation occurring only in the most recent generation. There should be no question among informed people that we have indeed experienced a real increase in autism (and other neurodevelopmental challenges such as ADHD).

      • The myth of an autism “epidemic” has been fairly thoroughly debunked. What made autism diagnoses rise so dramatically is mostly Lorna Wing’s work: to open up the DSM’s diagnostic criteria for autism to include people with intellectual disability like my own son, as well as those who fit the profile for the former Asperger’s diagnosis. From Steve Silberman’s NeuroTribes:

        “This was, of course, precisely what Lorna had in mind when she undertook her campaign to recast the DSM criteria: to make it possible for children who would have been excluded from support services before to get them. By the end of the decade, however, the startling rise in diagnoses—and the alarms in the media that autism had become an epidemic—took even Lorna by surprise. “Since the publication of my paper on Asperger’s work,” she admitted, “I have felt like Pandora after she opened the box.”

        As pointed out elsewhere, Ms. Escher’s interpretation of that California data has been criticized by actual data analysts as being a misunderstanding of how data analysis works: https://leftbrainrightbrain.co.uk/2016/05/22/if-you-are-using-california-data-to-claim-an-autism-epidemic-youre-doing-it-wrong-orthe-great-anti-epidemic-of-intellectual-disability-in-california/

        • Planet Autism

          Not true.

          “New Study Dispels Myth that Better Diagnosis is Responsible for Increase in Autism”

          http://vaccineimpact.com/2015/new-study-dispels-myth-that-better-diagnosis-is-responsible-for-
          increase-in-autism/

          That leftbrainrightbrain website is a joke. I wonder who is funding it because they dismiss everything as conspiracy theory.

        • Louise

          I have, for many years, represented families attempting to obtain services in CA from the regional center system. Qualifying conditions include Intellectual Disability (formerly Mental Retardation) and autism. I dispute the vague concept that the increased numbers of the autism population are due to individuals with ID or even Asperger’s being counted as autistic.
          It is settled law in CA, which the regional centers adhere to with varying levels of accuracy (in my opinion), that they are required to use the DSM diagnostic criteria for considering autism. And there is no DSM criteria (past or present) for autism which includes a specific IQ. Yes, the DSM (past and present) state that a percentage of those affected with autism have an IQ in the range of ID/MR but that is not diagnostic criteria.
          Additionally, it is a fallacy to say that because someone was diagnosed with Asperger’s that, in CA, they were considered to have Autistic Disorder by the regional center system which, on behalf of the state/Dept. of Dev. Services, provides basically all services to those with DD, and that all those claiming an Asperger’s diagnosis accounts for the numerical increase. Because the statute (Welf. & Inst. Code sec. 4512) uses the word “autism”, the regional centers rejected the diagnosis of Asperger’s as “autism” and would not serve any such individual unless they fit under a different “catch-all” category for which one had to have substantial and specific levels of disabilities in line with ID/MR.
          And, if you read the criteria for Asperger’s in the DSM IV, it clearly states that there should NOT be such a diagnosis without first having ruled out Autism Disorder, which was itself determined by a 12 point scale and the issue of early childhood use of language. The regional centers certainly read this and used Asperger’s as a rule-out for Autism Disorder and therefore a person did not have a developmental disability called “autism” under the statute. Therefore, few Asperger’s cases were ever reflected in the statistics provided by DDS because they were, for the most part, unable to access the system and be counted. In other words, CA statistics which relied upon reporting by DDS were primarily autism as defined by the DSM as NOT Asperger’s.
          When the DSM V removed Asperger’s from the diagnostic round-up and included it only if it was a “well established” diagnosis under the prior DSM IV (the only DSM to have such a condition) it clearly intended NOT to use the prior DSM IV Asperger’s criteria for anything once that generation of cases which were diagnosed under the DSM IV were gone. I find little in the DSM V which conforms to the prior Asperger’s Syndrome. I don’t doubt that people find Asperger’s appropriate and descriptive for their loved-ones, but it is not, and never was, representative of a large percentage of DD cases in CA as reported by DDS not because they were not there, but because Asperger’s meant Autism Disorder had been ruled out (even when it really wasn’t by any qualified expert).
          I do agree that a large number of adult-AD cases were missed due to lack of resources available to families to properly identify the condition, lack of training and understanding by professionals, will on the part of schools to identify and deal with the problem of how to serve such children, and the stigma that was often embedded in the minds of parents and communities which resisted “labels” such that individuals now in their 40’s, 50’s and beyond are coming to the attention of the courts and social services agencies now that family members are aging out and can no longer continue the support once given.
          But if we cannot properly house, educate, provide jobs and day programs and support even to the DD/autistic population that we now have (name one state where this is not the situation), why spend trying to conclude whether the numbers are a “true” increase? I believe we all agreed the problem is here and now and it will be worse even if the numbers, in whatever combination you want: with or without ID, with or without mental health problems, with or without behavioral problems, do NOT increase because the government funded resources are not keeping up with the cost of services such as salaries for care-providers, housing as urban centers become more expensive, and a world that is becoming increasingly more complex and computer-driven, making many jobs and services more difficult for the DD population to access.
          And even if anyone could state definitively that the chemicals in medications foam cushions on our couches, insulation, food, paint, fabrics, toys and whatever else we know already know about, does or does not contribute to autism or other conditions, new chemicals would be part of our children and grandchildren’s worlds. So the questions will remain: how will be take care of those affected, regardless of how they came to be in this condition? And, as Jill and others noted, without inquiry and open minds, we will never know the answers.
          If we, as a society, are fortunate enough to see an a actual decrease in autism in the years to come, I doubt it will cause a crisis on the scale of what we have now with more people in need than resources to serve them.

          • It is not that ID became part of the diagnostic criteria for autism, but that people like my son with both autism and ID were excluded from the autism category, and previously included only in the MR category.

            Why spend time trying to talk about “whether there is a true increase” indeed. But when people insist on promoting the idea of “an autism epidemic” when neither data nor documented history support such a statement, and even Autism Speaks has quietly stopped using the term ‘epidemic’; and when what we really need to focus on is getting autistic people the supports they deserve *without also stigmatizing them*, then people who support autistic and disability rights from a human rights perspective are going to speak up.

            There may be an environmental component to autism. No truly science-minded person is going to deny that possibility. But having an open mind does not preclude questioning dubious theories like Ms. Escher’s.

            If we are “fortunate enough to see an actual decrease in autism” is a worrisome statement on several levels. Evidence shows autistic people of all abilities have always been here, and that autism is largely genetic/inheritable. So, as long as people are having children and the population keeps growing, we will have an increase in the autistic population, and a significant portion of that population will need intensive supports. We also know that autism is still largely underdiagnosed in girls, kids of color, and low SES populations. So if the rate continues to rise, and reach the more realistic 1 in 38 level noted in Dr. R.R. Grinker’s Korea study, that will ideally mean we’re identifying more of the people who need supports, and can figure out how to deliver them.

            That we have so many autistic people in California is not the crisis. The crisis is that we, as a state, have neither prioritized not figured out how to properly support our autistic children and community members. And also that, as your very position as a representative indicates, the system is too often inaccessible to those with legitimate needs.

            A helpful and model toolkit for those navigating the system, specifically on accessing in-home housing and community-based services that are actually less costful to administer, is here: http://autisticadvocacy.org/home/policy-center/policy-advocacy-toolkits/hcbs/

          • Ashley

            Why do you assume that doing research on what causes autism and finding proper support for the autism community are mutually exclusive? Jill Escher is using her own money to fund research to test out her theory and discover other possible answers. She has done more advocacy work to create support and protect people’s rights than anyone I know in this state…and she does to help other people. If you want to challenge her theory, then go ahead, but do not attack her character. Show some appreciation for her generous contribution to the autism and I/DD community. If anything else, stop being a troll.

          • I am questioning questionable science, and questionable actions; to quote Ms. Escher in the article above, “I welcome people asking uncomfortable questions and poking me.”

            As for personal attacks, Spectrum’s comment policy specifically prohibits trolling.

          • kathryn hedges

            It makes me sad and ashamed to feel like a burden on society and that people wish I, or people like me, weren’t born.

      • Planet Autism

        You might want to factor in vaccinations to the environmental cause if you haven’t already. http://media.wix.com/ugd/58c8f1_3b2100082ead4bb191ae98cbd3b96dfa.pdf

        Good work. The industry behind pharmaceuticals is not going to allow the truth to come out and they fund much research and have their fingers in many pies of authority.

        Only a loose cannon (I mean that in the best sense) will find the truth.

      • Kelvin

        Lorna Wing’s work opened up the diagnostic criteria significantly, thus the massive increase in diagnosis. Asperger’s wasn’t diagnosed prior to the 80s.

  • Jill Escher

    Thanks so much to Nicholette Zeliadt for highlighting these new avenues into autism research. “Environmental” research has thus far been confined to fetal exposures and has missed the gamete dimension almost completely. I hope Spectrum readers will indulge me in making a few points that may help folks understand the hypothesis a little better:

    • It’s exceedingly rare for anybody of my era to obtain records of their prenatal exposures. About 5% of us were exposed to synthetic hormone drugs (DES being the most notoriously toxic among them, though I was not myself a DES daughter), but very few records exist. I was extraordinarily lucky to have obtained highly detailed records of mine (it turns out they were on file at the Kinsey Institute because as a Los Angeles 8 year-old I had been a subject in a study by its former director looking into the developmental effects of synthetic steroid hormones.. it’s a long and crazy story that would take pages to explain).

    • The drug exposures were heavy and continuous throughout my fetal development. My pregnant mother was given these synthetic steroid hormone chemicals for about 7 months, amounting to the rough equivalent of about 30,000 of today’s birth control pills. These drugs did not in fact prevent miscarriage—but some obstetricians and fertility specialists used them with abandon because in theory more hormones and stronger pseudo-hormones would confer some protection to the pregnancy. In that era almost no thought was given to the effects on the fetus–there was a strong and wishful-think erroneous belief in the “placental barrier.”

    • It’s the job of steroid hormones to change gene expression. Steroid hormones — at very small doses — can have dramatic effects on gene expression, particularly during vulnerable phases of development. Steroid hormones have a free pass to enter the nucleus, where they attach to receptors, triggering a cascade of genomic/transcriptional activity. Synthetic hormones have molecular structures that do not occur in nature, they are manmade in a lab with biologically wacky chemical formations that were patentable, and therefore more attractive to the drugmakers.

    • There are a variety of reasons why neurodevelopmental impairment rather than, say, purple hair, could result from distortions in the early germline. Though this is a field in its infancy, we know that epigenetic perturbations in the germline are for the most part corrected at conception, except for certain gene regions, including some relating to neurodevelopment. Also the phenomenon of genomic imprinting occurs in the early germline during the elaborate and highly conserved process of demethylation and remethylation. Disruption of this all-important but fragile molecular process can lead to dysregulation of neurodevelopment. Also, let’s say genomic hits are just random across all the chromatin; about 5,000 of our 20,000 genes relate to neurodevelopment. In any event, autism genetics has mostly focused on the exome, less on the whole genome. There is still much to explore within the genome itself, in the noncoding regions.

    • Perhaps most importantly, I have found family after family after family with stories similar to mine. Some of these stories appear on my blog at germlineexposures.org. What strikes me is the number of families with multiple children with autism or related conditions such as ADHD and learning disability, where a parent had suffered these types of prenatal exposures

    • The big Kahuna of germline disruption in my (admittedly ever-evolving) opinion is not actually the fake hormones such as those to which I was exposed, but the intensive amount of often heavy maternal smoking in the 1950s-70s, a phenomenon that peaked in the mid 1960s. Not to mention the paternal second-hand smoke. Tobacco is a known mutagen and epimutagen. Animal models show it to adversely affect early germline, too. Probing autism parents’ in utero exposure to tobacco should probably be Job One in autism epidemiology, and I’ve been pushing for that in many cohorts now under study. For various reasons I also think that prenatal or early life exposure to general anesthesia may have adverse germline effects. But I’ll end my thoughts here for now.

    Thanks so much to Spectrum for covering this new “time bomb” hypothesis and to the many researchers who have helped me along the way. To learn more: germlineexposures.org
    Jill Escher

    • kathryn hedges

      This whole project looks to me, a trained scientist, to be an exercise in jumping from one “what if?” to another. I don’t see a mechanism that purports to explain HOW these epigenetic changes cause autism (and other neurodivergences) specifically as opposed to effects on the reproductive system, respiratory/circulatory system, or other body systems related to the effects of hormones and tobacco. Early epigenetic research showed that descendants of people who were malnourished during WWII had a tendency to gain weight. The hypothesis was that starvation programmed not just the person’s own body but their offspring’s bodies to resist future starvation. (So perhaps grandchildren of dieters are the current generation of overweight people?)

      Honestly, it seems like a moot point whether or not smoking in current or past generations causes autism. We don’t have an “autism epidemic,” we have a generation with (a) expanded diagnostic criteria, (b) not hidden in institutions, (c) increased access to autism diagnoses as more people live in metropolitan areas with diagnostic centers. We already know smoking is bad for you and your children, so rates of smoking are decreasing in developed countries. (Is there a bigger “autism epidemic” in China, where smoking and air/environmental pollution are worse than during the 1970s in the US? What about Mexico City?) Even assuming the hypothesis is true, the existing trend away from smoking will continue whether or not you put the fear of autism in potential parents.

      What we need is research on which interventions for autism are helpful or harmful. There are many interventions which seem to be harmful and should be stopped. or ineffective and serve only to enrich the autism cure industry. If other interventions are helpful, they should be funded by insurance.

  • Laura Sylvester

    My son has autism and we are so grateful for Jill’s research. The grandmaternal smoking hypothesis applies to us! We strongly support research into any connections between that and neurodevelopmental disorders in grandchildren!!

    • Catherina

      what applies to you (I guess) is that grandmother smoked and grandchild has autism. My children’s grandmothers smoked and they do not have autism. Anecdotes, even more than one, don’t replace data and rigorous scientific thought.

      • Laura Sylvester

        I believe Jill’s reply to your other post is very thorough in response to your concern. But I am curious why you believe that doing research on causation distracts from the very real problem of supporting autistic children, teens, and adults? I couldn’t agree more that services and supports are significantly lacking in our community but are you suggesting we stop researching what causes it?

      • Jill Escher

        Catherina, that’s exactly the point. I am working (hard) to bring rigorous scientific thought to connections between genetic toxicology and autism. It’s extremely common for medical hypotheses to begin with observations of families and laypeople. But that’s hardly where scientific inquiry ends.

        • Laura Sylvester

          Jill, as an autism family that has dedicated our lives to improving the lives of our families, we SO appreciate your mindful dedication to the research! We all have a part to play — I am so grateful that while we are training dogs to help our kids NOW – you are doing the hard work or helping kids not yet born or diagnosed!

        • Catherina

          Please, what are you doing to stimulate “rigorous scientific thought” and what exactly are your research approaches to clarify whether hormone treatment and/or smoking (what exactly? Nicotine?) of grandparents had an effect on their grandchildren’s neural development?
          How will my children’s children benefit from your research?
          What exactly do you mean by “ticking time bomb” and how is such a choice of words helpful to “scientific rigour”?

          • Jill Escher

            Hi again Catherina,

            I have several undertakings intended to promote scientific inquiry, for example funding pilot projects in epidemiology, animal models and in vitro lab work. Also sponsoring conferences, meetings and webinars featuring leading researchers. Also speaking at and attending scientific conferences. I also have created a public repository for some of the information I have gathered, including dozens of interviews with scientists from a variety of fields, including toxicology, genetics, epigenetics, germ cell biology, and much more. You can see that at germlineexposures.org.

            “Time bomb” was a phrase suggested to me by a number of researchers, and I think it’s biologically fitting. For example, DES-related carcinogenesis, whether vaginal, testicular, or breast, was a “time bomb” effect of that very toxic prenatal exposure. Any medical condition that is the delayed phenotypic consequence of a long-ago mutagenesis or epimutagenesis can reasonably be termed a “time bomb,” and indeed that phrase is commonly used.

          • Catherina

            Thank you for the answer Jill, I have been going a bit back and forth over whether and what to answer, but here it is.

            When you see the term “time bomb” in the literature, it is usually associated with commentaries/reviews and it refers to situations like aneurysm, where there is actually a modifiable risk factor for a catastrophic event (like treatment as prevention of an aneurysm bursting, or weight loss in a population of risk of diabetes).

            Now there is exactly one use of “time bomb” in relation to epigenetics, this one here http://www.ncbi.nlm.nih.gov/pubmed/19711251 roughly co-inciding with your “epiphany”. I actually disagree with the authors on the use of the term “time bomb”, but what I would like to get an idea from you please (since you asked to be challenged) is:

            What is the benefit of the research beyond (maybe) identifying something that may have altered DNA in the 60ies that may (or not) be influencing neural development now? Specifically, is there anything that we (the potential parents or grandparents of the next generation) could modify to avoid *what* exactly? The birth of an autistic child?

            Because from what you have written, it looks like the “bomb” aspect refers to having an autistic child and I think that is what parents on this thread disagree with (so do I, although from a much less informed position).

            Thank you.

  • I am worried by this promotion of self-funded science. I hope readers are able to make the distinction between having the means and energy to pursue and promote one’s theories, and theories having validity. Ms. Escher’s theories are widely criticized by developmental biologists, neurology researchers, and autism researchers alike. Most often with dismay.

    Also worrisome is Ms. Escher’s focus on causation, as opposed to supports. I support scientific curiosity, and am in no way opposed to research into autism’s origins — as long as the results aren’t use for eugenics. But how does this help her own kids, right now? Wouldn’t her time and considerable energy be better used on under-researched and -funded areas like communication, processing, autistic anxiety, sensory issues, co-occurring conditions, areas that could possibly make life better for her children *now*? As well as for other children like hers (and mine), and the adults they will become?

    As this article indicates, research
    supports inheritance/genetics as the primary contributor to autism and
    autistic traits. That people like Ms. Heathcote and Ms. Escher assume
    they have no autism in their families (or traits themselves) is
    indication only that the role of inheritance is a relatively new understanding, and that
    people whose autistic traits don’t reach a clinical threshold —
    especially if they’re women — are likely to be overlooked.

    I’d also take issue with Ms. Escher’s assertion that she welcomes criticism. When autism science analyst Matt Carey used impersonal data analysis to point out how Ms. Escher misinterpreted California state data in order to bolster her claim that California has an “autism epidemic,” her response was to attack Mr. Carey personally — on the San Francisco Autism Society’s official site, no less. This is neither how legitimate science supporters react to reasonable criticism, nor is it an example of responsible leadership: http://www.sfautismsociety.org/blog/setting-the-record-straight-about-the-alarming-growth-of-autism-in-california

    As for Ms. Escher’s assertion in these comments that she is a champion for autism supports, and lifespan issues: while she does work diligently on these issues, she also steadfastly refuses to work with autistic self-advocates themselves — and in fact goes to great lengths to oppose autistic-led efforts to ensure that community members of all abilities are able to have input on their own housing choices. I find it extremely distressing that anyone who claims to work *for* the autism community consistently refuses to work *with* the autistic community.

    • Jill Escher

      Dr. Simons, who so generously funds SFARI and Spectrum News, among a great many other things, is the preeminent example of parent-led grantmaking. I have no pretenses to being an autism researcher. But like Dr. Simons (albeit with a much tinier piggy bank) I see the value of making grants to support promising research, and I hope most readers do too. That my research area is a bit off the beaten path and multidisciplinary in nature should hardly raise the level of rancor I’ve seen in your posts.

      • As I wrote, I hope readers can make the distinction. And my criticisms about your research are specific, and evidence-based. Accusing them of “rancor” is dismissal, not discussion.

        I note you didn’t address the other points, but it’s not necessary. I hope you do take them to heart.

    • Jill Escher

      To the point that we parents may have autistic traits we overlooked, I should point out a small error in the article. It states that I was unscathed by my intensive prenatal exposures. Actually, I was affected at a somatic level. A landmark 1977 study in which I was a subject found that we who were heavily exposed to these drug cocktails demonstrated certain personality differences (not remotely a shock given what we now know from the field of neuroendocrinology). These differences amounted to an increased level of “Aspieness,” though that phrase was of course not used at the time. We were found to be more independent, less groupish, less in need of succorrance, and the like, than our unexposed controls. You can see the study here: “Prenatal Exposure to Synthetic Progestins and Estrogens: Effects on Human Development.”
      I still remember the researchers coming to my house in Los Angeles when I was eight years old and performing all sorts of tests on me.

    • kathryn hedges

      This is a very reasonable comment.

  • Claire Cameron

    Hi all. Thanks for taking the time to read this article and to share your thoughts. We greatly appreciate it. I’d like to take the opportunity to remind everyone of our commenting guidelines, which are freely available here: https://spectrumnews.org/about/. Please try to keep comments within these guidelines. We encourage healthy debate, but we don’t tolerate offensive language or other aggressive comments – similarly, if your comment doesn’t adhere to our guidelines, we will moderate it. If anyone has any questions about the guidelines that aren’t answered on the page I posted here, then please feel free to email me at community@spectrumnews.org and I will be happy to answer. Thanks so much for taking care to ensure this comment forum remains a safe and inclusive space for discussion!

    • kathryn hedges

      The original article is very hostile to autistics. We are something that should be prevented from existing.

  • Alycia Halladay

    Scientists agree that genetic and environmental factors working together, such as the modification of epigenetic expression, contribute to the causes of autism. Autism Science Foundation and Autism Speaks collaborate with the Escher Fund for Autism to cosponsor a webinar series on this topic. The webinar is open to the entire community and includes respected speakers from outside the autism community, pulling in outside expertise to bring more attention to this field of research. You can see past topics and view the webinars here: http://www.germlineexposures.org/webinar-series.html and asfpodcast.org

    • Autism Science Foundation and Autism Speaks are two organizations that disproportionately support causation research over supports and services research, so this collaborative effort is hardly surprising.

      Again, if only this kind of energy was going into making the world a better place for the autistic people who are already here.

      • Jill Escher

        All people devoted to this cause are free to support Autism Society San Francisco Bay Area’s tireless crusade to improve prospects for the Bay Area’s burgeoning autism population.

        I should also note that aside from spearheading research cited in the Spectrum article, and leading the SFASA nonprofit board devoted to expanding supports and services, I also strongly financially and otherwise support the school attended by your son, and in addition provide low-income housing for developmentally disabled adults, a task that is almost impossible to do here in the uber-expensive Bay Area. Your insinuations that I ignore the service dimension of the autism crisis are utterly preposterous and must not remain on the record without correction.

        • Spectrum has already publicly noted on Twitter that they are endorsing neither your science or theories by featuring your research here.

          You do a lot of work, as I acknowledged. But you openly refuse to work with, and publicly demean, the autistic community — and that includes your housing efforts. Autistic people are the community you’re supposed to be serving, one might note.

          Many people put their heart and souls (and wallets) into supporting our sons’ school. But, until now, I’ve never seen any of them ask for recognition from fellow parents.

          Your insisting that we have an “autism crisis” is indeed something I take issue with. Autistic people deserve respect and supports, not being treated like a “time bomb,” or a “tsunami,” etc. I am with you that housing in our area (and in general) is a crisis. But it’s not an “autism” crisis. It’s a social and policy crisis.

    • Emily Paige Ballou

      “Scientists agree that genetic and environmental factors working
      together, such as the modification of epigenetic expression, contribute
      to the causes of autism.”

      Okay, but scientists generally agree that genetic and environmental factors working together, including epigenetic modification, contribute to the expression of *practically every human trait.*

      What, in this framework, makes autism remotely unique in that regard?

  • Jacqueline Forsythe

    I’ve worked with Jill on autism advocacy for many years and am simply shocked to read the distorted accusations posted by Ms Rosa. Jill is a widely respected leader who has gone out on many limbs to promote the civil rights and supports for people with autism. In fact, the photograph featured in the story shows Jill talking to reporters as she stalwartly defended the housing and civil rights of a Sunnyvale family whose autistic child was sued as creating a “public nuisance,” a nightmare case that drew national attention. Ms Rosa is completely, totally, utterly out of line.

    • Uli Chettipally

      Agree with Jacqueline’s assessment. We were there that morning at the courthouse, when this poor family was dragged to court, because of the behavior of their son with autism. Thanks to Jill, this family had an organization advocating strongly on their behalf.
      A condition like autism needs many more people putting their efforts, time, money, hypothesis and brains to solve this problem. The field is broad and there is plenty of work to go around. Let’s respect each other’s work, passion and opinion. I’d say more power to Jill!

    • My criticisms are all based on public available evidence, so I am unsure why questioning Ms. Escher’s actions or science — as she specifically said she welcomed, in *this* very article — is so problematic.

      And I acknowledged that she does a lot of work. Doing some good work does not automatically make a person exempt from criticism. If Ms. Escher would prefer not to encounter discussions like these, she should avoid public arenas.

  • Katie Wright

    Thank you Jill Esher! Jill is a brilliant and hard working autism mom putting her own money on the table to research environmentally triggered autism. I disagree with the criticism that Escher’s theory is about blaming mothers. It is certainly NOT our mother’s fault that doctors often pushed drugs on their pregnant patients. In the 1960s pregnant women were often told that they would miscarry without these drugs yet they were not honestly informed of possible adverse effects.

    That is why Jill’s research IS important. We need more independent safety research on drugs, especially drugs given to pregnant women and the disabled. The public recently learned that Risperdal, the autism drug, causes horrific side effects that were knowingly not disclosed by J & J.

    Just because this was not your child’s path to autism do not dismiss This experience. Autism is about more than genetics.

  • Alex Krem

    Whew. A heady dialogue indeed. Permit me to add my two cents, as a well educated man with 59 years experience with children and adults with intellectual and developmental disabilities at http://www.campingunlimited.org and co-founder of http://www.living-unlimited.org.

    1. Jill Escher is the most productive, articulate, respected and charismatic spokesperson for those with autism that I know. Her research is supported by logic and empirical data. To suggest that self funded research is somehow inappropriate ignores the long history of the successful discovery by self funded research from Copernicus, Galileo and Harvey to Edison, Tesla and Venter. (With respect to Shannonrosa, it is actually grant-funded research such as NIH, DOE or other large grant maker that is corrupted. Happy to engage in an offline discussion on this subject if anyone cares to.)

    2. Suggesting that the increase in autism headcount is an artifact of increased diagnosis or changes in DSM shows a profound and dangerous failure to understand the staggering problem we face as a species. Has anyone in this exchange over 50 remember meeting an autistic person when they were young? I have been involved with the I/DD population since 1957. For the first two decades, we saw NO children displaying the clear and evident characteristics that mark this population. None. Zero. Zip. Nada. Now, more than half or our 600 campers are on the dependent end of the spectrum. More than half of our new enrollments are children requiring one-to-one supervision.This is NOT a function of changes in diagnosis, but a fundamental sea-change in the make up of the I/DD population.

    3. By diagnosing disorders by symptoms, the latest DSM has obfuscated the issue by conflating what are probably very different disorders. Grouping those with mild autism (Asperger’s) who can live independently, hold high value jobs and deal with their peculiarities together with those who are totally dependent and oblivious to the world around them is as useful as describing a woman on her menstrual cycle and a gunshot victim with the same diagnosis. This fatal error in the latest DSM resulted in its rejection by the National Institute of Mental Health. It is a great pity that many involved in this arena do not understand that terrible error. CMS certainly does not.

    4. As Jill Escher has correctly observed, the US faces a crises of huge proportions to house and care for this new and growing population of dependent people. For reasons that beggar the imagination, actions by California in closing institutions and the new and astoundingly dysfunctional CMS “Final Rule” only make matters worse and show virtually no understanding of the problem which their current and proposed regulations will certainly exacerbate.

    5. I know no one –NO ONE — in all the world doing more than Jill Esher to articulate the critical nature of the problem we face and to explore possible solutions constructively and cooperatively. With respect but concern, it is evident that many good and sincere people weighing in on this site do not (yet) recognize the problem and are naive in their suggested solutions.

    5. To conclude: autism numbers are growing dramatically at the same time that sensible solutions are more difficult to achieve due to “politically correct” (and possibly cynical) regulatory changes and well meaning but poorly informed people who fail to understand the problem well.

  • Bruce Hall

    Jill Escher is articulate, intelligent, compassionate and a tireless advocate and leader in the autism / I/DD community. As President of the SFASA, she has the courage to speak out on issues of critical importance regarding long term housing choice and services and supports for all on the autism spectrum. I admire Jill’s philanthropy and research interests. Thank you to Jacqueline, Katie, and Alex for your thoughtful comments regarding this “heady dialogue.”

  • Curiously, though Ms. Escher says that she welcomes “uncomfortable questions,” she is publicly characterizing those on this thread who are asking such questions as having “extreme views and belligerence”:
    https://www.facebook.com/jill.escher/posts/10153734942843779?pnref=story

  • Claire Cameron

    Hello all. Thanks for reading this article and taking the time to share your thoughts. We greatly appreciate it. I am moderating comments actively on this thread to ensure that the discussion stays on-topic and remains positive, safe and inclusive in nature. I’d like to take the opportunity to reiterate our comment policy:
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    Thanks!

  • Amy Fisher Lutz

    I am utterly baffled by the attacks on Jill’s advocacy work in this thread. Jill fights tirelessly for those on the severe end of the spectrum — those who are most disabled by their condition, and who face the bleakest and most uncertain future. She does not “oppose autistic-led efforts to ensure that community members of all abilities are able to have input on their own housing choices.” She is actually at the forefront of the fight to provide the broadest possible range of housing options to meet the needs and preferences of this very diverse population. It is worth noting that it is ASAN and other self-advocates who are restricting housing options by insisting on small, dispersed settings in the community (such as apartments and group homes of four or fewer individuals) for everybody, regardless of whether they are appropriate (for those with significant medical and/or behavioral challenges) or even desired (by those who prefer to live with peers in intentional communities, such as the Arc Village in Jacksonville).

  • Ashley

    Jill, your research is very thought-provoking. I look forward to following the development. Thank you for all you do for the autism and I/DD community! You’re amazing!

  • Ethyl

    I thought your idea was interesting, and it was so unusual that you would find out about the excessive hormone treatment your mother received. We know so very little about medical intervention of pregnant mothers and the long term harm that can come to the fetus. Although there is not a lot of study with gametes, it’s only logical it could be a concern to future generations. Because we do not know…I feel if you have the funds and ability to encourage others, it would be unscientific NOT to look at it. We can’t decide the answers before we know the questions that type of research would bring about.

    • Katie Wright

      I agree! There is plenty room for progress regarding ASD causation science. Listen, the traditionalists in ASD science could use some help. We need new ideas and parent lead perspectives. Too often ASD researchers have very cozy uncritical relationship with pharma. Conversely, Jill is a terrific consumer advocate taking a closer look at how drugs can cause epigenetic change- and not for the better. I am grateful for Jill’s courageous work.

      • Again, the issue is not investigation into causation, though we have to be cautious not to stigmatize autistic people themselves in this pursuit. The issue is that researchers (including those who specialize in germline matters and developmental biology) are questioning the validity of Ms. Escher’s theories.

  • MomtoTom

    As a trained scientist and the parent of a young man severely affected with autism, I wish I could write this note purely from a scientific perspective, but I’m a human first and foremost and a mother to boot! I want to say that I appreciate and applaud Jill Escher’s efforts to help find answers to my son’s plight. And yes it is a plight; my son will never live alone, most likely will never hold a job and barring a miracle will forever need constant attention and support. Determining that he has autism was not just a case of being able to recognize the condition, believe me – you would have never missed it. He has full blown – can’t speak, limited communication, “stim everything in sight” autism. Not the variety where one is able to “self-advocate.” In fact this may be my bias, but it should probably go without saying that if you can advocate for yourself, you’ve pretty much disqualified yourself as being autistic. The increase in rates of debilitating autism is real. The MIND Institute has done extensive research on this and argues that the increase is not that we’re just now noticing them (http://www.ucdmc.ucdavis.edu/welcome/features/20090218_autism_environment/). And don’t get me started on Steve Silberman and his Neurotribes theory. By his description almost every other dinner party in Berkeley is chock full of Asperger cases. That could be the case, but these are not the increases that are wreaking havoc on our social services.

    I think Jill’s hypotheses on environmental exposure have incredible merit. I would be nice to know if my mother’s exposures could have contributed to my son’s condition. Yes it may be too late for him, but knowing what caused the problem may be helpful to help others to not have to repeat the experience and perhaps even remedy the condition.

    In my mother’s case, she was a participant in the research studies done on the first birth control pill. It would have been nice to ask if had she participated in other studies too, but she died at the age of 37 from uterine cancer. We were told at the time her cancer may have been caused by the high dosages of hormones she received. Since nursing was her profession and nurses were routine tapped for “research studies” who knows what other chemicals may have been tested on her (those were pre IRB days). Jill’s thinking outside the box and really searching for possible causes of autism is an incredible gift to those of us who would like to make it so others don’t have to experience the difficulties that severe autism brings.

    My suggestion to those complaining that Jill’s dollars (which by the way are just that, Jill’s dollars) would be better spent providing services is short sighted and selfish. Jill is doing the research to find what causes the itch, not just scratching the itch. If you don’t like what she’s studying, there is plenty of opportunity for you too to fund a study.

    Thank you Jill!

  • Claire Cameron

    Hello all. Thanks for reading this article and sharing your thoughts. In light of recent comments on this article that contravene our comment policy (available to read here: https://spectrumnews.org/about/), we are closely monitoring this thread. We ask that everyone who comments stick to our comments policy. The policy:
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  • Bruce Hall

    There is a need for new, creative and divergent thinking in the field of autism research. I believe Jill Escher’s work is important and I look forward to seeing where these questions lead. There are so many questions about where the heritability in autism comes from, and these ideas could explain it.

  • Dana Dolinoy

    Thank you Spectrum for reporting on potential roles of the environment and the epigenome in Autism. The field of environmental epigenetics is an established and expanding area of research in which exposures of many categories – nutrition, toxicants, drugs, stress – can impact epigenetic gene regulation and affect health outcomes. The role of environmental exposures impacting germ cells directly (and thus causing changes in subsequent generations) has not been widely studied. The NIH is currently interested in learning more about the effects of exposures on germ cells and has issued a request for applications to evaluate this mechanisms in animal models: http://grants.nih.gov/grants/guide/rfa-files/RFA-ES-16-007.html I thank Jill Escher and the Escher Fund for their work in this area.

  • Susan Riggle

    There are plenty of scientists including geneticists who feel that epigenetic factors may be an important causative mechanism in autism. To be dismissive of this research seems shortsighted and unwise. My husband, who is a trained medical geneticist, has been saying for years that he’s convinced our son’s severe autism was caused by our 3 packs a day smoking mothers.

    Also don’t discount an intelligent and inquisitive person who has done a lot of reading and research. He/She may have as much insight and perception (perhaps even more) than a so called “trained scientist.” Discoveries don’t always take the standard route.

    Even if the studies done by Ms. Escher do not prove a causation, it doesn’t make it any less important that these questions are asked.

  • Matt Carey

    I saw Jill’s call for support on Facebook. She states that she’s being attacked here by “a Bay Area autism mom known for her extreme views and belligerence” I thought I would come to help.

    Much to my surprise I come here to find that Bay Area autism mom is Shannon Rosa.

    Shannon Rosa, who helped found and run the Thinking Person’s Guide to Autism. A group that promotes autism acceptance.

    I would participate more here right now, but I am apparently an extremist myself (as I too promote acceptance).

    I will leave for now with this thought: the use of the term “junkie” in a disability advocacy discussion is rather problematic when you step back and think about it.

    Junkie is a derogatory term for a drug addict. A person who deserves a DSM 5 diagnosis (substance abuse disorder)

  • EpiRen

    On little to no money (and with a lot of help from grants and scholarships), I got a bachelor’s degree in medical technology and a master’s degree in epidemiology. If I didn’t have to work full-time during these endeavors, I would have done it all in six years. Yet I’m to believe that Ms. Escher didn’t have time to go to an accredited institution which would validate her “research”? At the very least, she should have picked up Gordis’ book on Epidemiology, where it is clearly explained that you do not establish the presence or absence of an epidemic based on prevalence numbers. This whole myth of an autism epidemic is just that, a myth. Any epidemiologist worth their salt would explain this to Ms. Escher. Does she not have the means to hire one to explain basic epidemiological concepts and how the autism epidemic is not? Diagnostic replacement, better surveillance, increased awareness/acceptance and a better understanding of what autism is (and isn’t) has led to the most recent prevalence numbers. If anything, we are approaching the truth, that about 1% to 3% of the general population is autistic.

    These kinds of stories about people who do their own research really make me sad. Someone is being taken for a ride, in my opinion. Whether it’s Ms. Escher or the many people holding on to hope that her group’s efforts bring about a prevention or a cure remains to be seen.

    • Jill Escher

      I emphatically do •not• conduct my own research. I never have, and never will. I support research endeavors by qualified scientists working in academic institutions. Grantees have included Rockefeller University, University of Copenhagen, University of California San Francisco, University of California Los Angeles, University of Bristol (UK), University of Linkoping (Sweden), numerous scientific organizations, and more. The entire point of my work is to promote research on fundamental questions of germline biology and genetic toxicology.

      • EpiRen

        Thank you for replying. How should a reasonable person read this part of the article, then?

        “Escher, 50, has no formal training in science, but she reads scientific papers, gives lectures at universities and speaks at conferences. This self-described “autism science junkie” taught herself the intricacies of research as she struggled to understand how her two children came to have autism.”

        You don’t have formal training in science.

        You read scientific papers and you give lectures and speak at conferences.

        Yet you “do •not• conduct” your own research? So you’ve never researched autism? Or have you?

        I’m very confused. I might have lost something in my reading of the article, and I apologize. English is my second language.

        • Jill Escher

          Yes, I read research, as do many laypeople. Yes, I attend and speak at conferences. Yes, I very often discuss scientific questions with researchers. No, I do not conduct my own research. I promote research, I fund research, I write about research, I do not do research.

          • EpiRen

            So “reading” research is not “doing” research. And one need not do research to understand complex things like neurology, biology, and epidemiology in order to speak about these things — within the context of autism — at conferences and universities.

            Thank you for clarifying this.

          • Jill Escher

            I’ve catalogued a good slice of my various activities on my website germlineexposures.org. You can learn about grants, some of my presentations, many of my interviews with experts, and more. It’s not an autism website, but rather devoted to genetic toxicology (also known as environmental mutagenesis/epimutagenesis), with a twist of neurodevelopment thrown in.

          • kathryn hedges

            I have been to scientific conferences. People who get to give talks are not laypeople and at the least are presenting their PhD research before their dissertation is complete.

    • Susan Riggle

      Hmmm… So the MIND Institute is just making up the increase? They published a very thorough study named: UC Davis M.I.N.D. Institute study shows California’s autism increase not due to better counting, diagnosis

      http://www.ucdmc.ucdavis.edu/welcome/features/20090218_autism_environment/

      • Kiwimommy

        No one denies the epidemic anymore! The IACC, CDC, NIH, all say it is not better counting, awareness, or diagnostic substitution! This is in fact the most dangerous activity, the continued denial of this catastrophic epidemic. Far more dangerous than whether Jill’s curious hypothesis is right or wrong.

        No one can answer why 99% of us cannot remember knowing anyone even close to what we clearly know now and easily recognize as Autism.

        Why our Mothers and Grandmothers never heard of a child regressing after normal development in their entire lifetime.

        Why tenured teachers are quite clear that our children are dramatically changed, Autism being the most obvious but not the only change.

        What did we do with these children when we called them something else? We still would have had to deal with them in our homes, churches, schools, and more. Why are they only now known to us and only now require help and services. Anyone that is even nildly acquainted with autism knows this is Bologna! Our Mothers would have sought help, demanded answers, and everyone would have been aware of these children.

        Just in my state of Oregon, in 25 years we went from 6 kids in the entire state known to have Autism to now over 11,000. Nothing can explain that away. Our tiny town had one child with mild retardation in a 30 year span. Now we have Autism classrooms exploding at the seams and our high school has doubled it’s Autism population every two years for the last 10. We graduate about 35 kids a year and the special ex teacher was responsible for 27 kids this year with autism, nearly 25% of the school population. And all but one of those kids are profoundly autistic! Epidemic is mild compared to reality, I don’t even have an adequate word for what is happening to our children, but it is already past the point of sustainability!

  • Claire Cameron

    Hello all. Thank you for reading this article. We would like to inform readers that, after much consideration and review of our comments and moderation policy, we have decided to close this comment section. Please refer to our comments policy on this page for more information: https://spectrumnews.org/about/#commenting-guidelines
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