Field of Science

Why I'm glad I've got Sci-Mom superpowers

"You know all that because your mom is a scientist!"

This from a friend over for a playdate/sleepover, after my science-obsessed and autistic 9-year-old began quizzing him about the Amazon and its aquatic inhabitants. No, he doesn't know all of that because I'm a scientist. He knows all of that because, like all inerrant and compulsive naturalists famous and non-famous, he's got his ear to Nature's heartbeat and his eyes on every detail. Where I come in is that because of my science background, I can answer many, many of his questions about what he hears and sees. That, you see, is my Sci-Mom superpower.

I've known people like him, met a few going through grad school. They're the ones who can cite the species names for everything from fungi to fossa, who've got ample collections of bones, bugs, and other ephemera of the obsessed scientist. They're the unsung Maturins of the world, the ones who can't resist the closeup of Nature's offerings. There's scarcely a picture we have of our oldest in which he's not bent down on one knee, eyes inches from the ground, examining what's on offer with the keenest visual discrimination of anyone I know.

Yes, I'm a scientist. But my world is of much smaller compass, engaged within my cranium where I visualize to the atom the molecular goings-on that we cannot see. I focus inward, wandering around inside cells and nuclei, parting the tangle of proteins and organelles, peering across the quivering cytoplasm, working my way through a nuclear pore to see the mechanisms at the very core of Nature's being. As a molecular sorta gal, I'm no naturalist. I know a few species names here and there because, well, when you get a PhD in biology and teach it for 11 years, you tend to pick up on that sort of thing.

And I can sit for hours and watch animal behavior. Indeed, outside my office window is a living Disney movie of birds, squirrels, foxes, coyotes, deer, domestic cats, 5-foot rat snakes, 2-foot garter snakes, and the occasional bewildered opossum, and over four years of watching the seasons change, I've gotten to know them all. But I know far more about what's going on inside of them. All of this information, all of what I've acquired in becoming a scientist, even my behavior as a scientist, helps me to nurture the scientist in my children.

We all share our interest in these backyard co-habitants. Our other two sons show a similar affinity for the natural world, although not to the Darwinistic extent of our oldest. We spend so much time outside that they've pretty much had no choice but to absorb nature into their pores. I spend so much time overanswering their typical and not-so-typical childhood questions that they probably regret it every single time they ask me one. If they do, though, they don't show it.

Our version of family entertainment is to load up a nature show, preferably with David Attenborough as the narrator, and watch, as keenly observant of what's happening on the screen as we are of what happens when we're outdoors together. Yesterday, we spent an hour peering at a sleepy, tiny screech owl sitting sleepily and tinily in the bamboo forest edging our yard. That's all the owl did, and we watched it anyway. These are behaviors we've modeled for our children, and now they seem intercalated into their very DNA.

As a biologist and one who sees a molecular world everywhere I look, I know that there's no "heritability" to what my children are doing. No one's born a biologist. In all honesty, I have a liberal arts heart and a scientist's brain, two metaphorical organs that occasionally struggle with one another, especially when I'm trying to choose a book to read at night. The most delicious resolution I can have to that struggle is to find science delineated in graceful prose with a magnetic story arc. Those finds that appeal to my brain and to my heart are the most delightful of reading experiences for me. And with every great science book I imbibe, I pick up more that I can impart to my children. It's as though all the learning I've ever done in my life, all the pursuit of knowledge, all my focus on the life of the mind, has found its outlet in these willing ears and minds of my three inquisitive offspring. With these continued learnings, I feed my superpowers.

And of course, my actual brain and my mother's heart delight in every inquisition about channel catfish or extinct sloths or carnivorous plants. I glow inwardly (I hardly ever glow outwardly) with what seem to me to be their precocious insights into the natural world. As a science mom who homeschools, I'm teaching my oldest child science at a level I've used with college nonmajors, and he soaks it up like a large, prehistoric sponge. There's no more satisfying use of my Sci-Mom powers than that.

I know that they're not genetically scientists, in spite of my degrees and their father's equally holistic pedigree. What they are--and what I, as an educator and scientist and parent, know that I need to nurture--is intellectually curious. They open their minds like little birds awaiting nutrition, never sated, always asking for more. If intellectual curiosity is heritable, if somewhere in those gelatinous intracellular wendings lies a mechanism for a native inclination to a life of the mind, then these children are homozygous dominant for it.

We're a discursive group, wandering down lanes of history and literature and science and geography and getting completely lost in those surprising intellectual rabbit holes where only children guide you. Yes, I'm a science mom. And the best thing about that isn't that my children somehow seem to have inherited a "science" gene. The best thing is that I, with what I've managed to learn in 20-odd post-baccalaureate years, can put that information to the best possible use I can imagine. Not as a wage-earner. Not as a researcher. Not even as a professor. But as a mother who can, in fact, answer the question, "Why is the sky blue?" Yep. I've got the Sci-Mom superpowers to take that one on.

World Autism Awareness Day: What is the state of the science?

April 2 is World Autism Awareness Day. I've already begun the day by engaging in a twitter exchange with a mother of three autistic children who compared autism to a "car crash." I've been pondering what contribution--if any--I should make on World Autism Awareness Day. From my interior, insular world, it seems like everyone knows about autism. It seems like every other headline is about autism. I know that just about every other post I write for this blog is about autism. Is everyone aware of autism? What do you know about it?

That's a complex question. Do you know about autism from watching the TV show "Parenthood"? Are you aware of its existence because of the media attention or the blue puzzle pieces at Toys 'R' Us or blue light bulbs at Home Depot or blue avatars anywhere on social media? That may make you aware of the concept, just as a pink ribbon vaguely resonates in our social consciousness as being associated with breast cancer. It may mean that you know of autism. But what do you really know about autism?

That's an even more complex question. My lovely friend, autism parent, and all-around one of the greatest people I know, Shannon Rosa, has defined the cornerstone of what anyone needs to know about autism. All behavior is communication. We all--parents, educators, autistic people, researchers, the news media--we all need to grasp that. The interaction of our endocrine systems with our nervous systems produces behaviors, and our behaviors carry meaning, they communicate something to those who are paying enough attention. It may not be intentional communication, but the messages are there. What's lacking for many people is a code breaker for what that message is.

Rosa's cornerstone of autism awareness is an outward manifestation of an inner machinery that remains, dare I say, a puzzle. The problem with this particular puzzle is that people have gone out of their way--and continue to do so--to grab puzzle pieces from boxes that have nothing to do with autism and try to force them into the growing picture of what underlies this developmental difference. Others who are more cynical use these distractors to make money for themselves or simply to gain attention. These distractors are an enormous time and resource suck, and extricating them from the puzzle where they have no place is an arduous process.

Given these distractors, it's no wonder that progress on the true underpinnings of the group of developmental derailments we call autism has been glacial. Autism is likely the endpoint of many pathways, all leading to the outward communication and behavioral differences that we, in our need to categorize and encompass as much as possible, call Autism.

It's not alone in this complexity. If you've ever even glanced at the basics of the neuroendocrine system (warning: hilarious image), you know that the interactions and pathways and molecules and possibilities are dizzying. Take this array of mechanisms that seems impossible to tease apart and add in likely environmental influences, and as I've noted before, we've got one of the greatest neurological mysteries of our time on our hands. Thanks to this tangle of physiology and environment with a few obnoxious and persistent mechanistic red herrings thrown in, and yes, progress has been turtle like, at best.

So, where are we now? Now that we've made strides in shuffling off the burden of the biggest distractor of a global vaccine etiology, where does that leave the science of autism?

In many ways, we find the science where everyone should have been looking all along: in the genes. Here's what to watch for in the science of autism in the coming years:

1. Copy number variation (CNVs). A disorder or developmental difference with this etiological complexity may come down to something as individually variable as the number of copies of a gene sequence a person carries. Bob as five repeats in one area of his DNA, Sue has 10, Sue has autism, Bob does not. But when Bob has a child, by that time those repeats have doubled to 10 in his germ line (where his sperm comes from), and he passes 10 to his child. His child has autism. His next child gets a sperm that carries only 5 repeats and does not have autism. The neighbors all have between zero and four repeats, and none of them has autism. In other words, that saying that people use a lot with autism, "When you meet one person with autism, you've met one person with autism"? Could be more precise than we think.

2. Mitochondria. I've summarized a large review of the state of the science for mitochondria and autism. These disorders also would carry a genetic component and confer susceptibility to an environmental trigger, such as a high fever, illness OR vaccine induced, that stresses the system.

3. Specific genes: SHANK has emerged as a growing candidate for some pathways that lead to autism. Others include NRXN, SYN1, DLG4, and several more.

4. Hormones. Behaviors arise from the interaction of your nervous and endocrine systems. A persistent hypothesis of a causative mechanism of autism spectrum disorders is that androgenization of some sort underlies the manifestions. I've blogged this before, offering a different perspective: That low estrogen, rather than high androgen, could also be a plausible explanation. Just for the record, everyone, estrogens are not some kind of passive, default players in development and behavior. They're active, too, just like those "manly" hormones. The thing is, hormones act thanks to a genetic scaffold that allows reception of and response to their message. Even if hormones play a role, we still must look to the genes.

5. Then there's epigenetics. Genes don't just sit there, naked and waiting for something to trigger their expression. Sometimes, cells actively put genes into shutdown mode, hushing them up with chemical tags that make the sequences unavailable for use. This tagging is the basis of epigenetics, or regulation above the level of the gene. We acquire tagging from our parents--which they've both acquired from their parents and during their lifetimes--and we modify our own tagging through our lifestyles and propensities. In essence, these tags can have the same effect as a mutation.

As you can see from this list, so much remains to be done. Genome-wide association studies, which provide a snapshot of the big picture of gene expression, help researchers group together genes that seem to team up in people with autism vs. people without it. The harvest from such studies is likely to be huge, and the hours and dollars and intellectual investment that these results will require is almost as overwhelming as the autism mystery itself.

What can you do, on this day or any other day, to advance our understanding of the causes of autism? You can do one or both of two fundamental, useful things.

1. If you donate on behalf of autism research, donate to a foundation that focuses on studies like those I've mentioned above. Real science looking at real possibilities. The Autism Science Foundation.

2. Wherever you are, wherever you go, if you see a person behaving "oddly" or a child having a "meltdown" that makes you think to yourself "brat," try to remind yourself of the following: All behavior is communication.

Selected references, in no particular order:

Autism Res. 2011 Feb;4(1):5-16. doi: 10.1002/aur.175. Epub 2011 Jan 5.
Behavioral profiles of mouse models for autism spectrum disorders.
Ey E, Leblond CS, Bourgeron T.

Am J Psychiatry. 2010 Dec;167(12):1508-17. Epub 2010 Oct 15.

Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome.

Feyder M, Karlsson RM, Mathur P, Lyman M, Bock R, Momenan R, Munasinghe J, Scattoni ML, Ihne J, Camp M, Graybeal C, Strathdee D, Begg A, Alvarez VA, Kirsch P, Rietschel M, Cichon S,Walter H, Meyer-Lindenberg A, Grant SG, Holmes A.

J Am Acad Child Adolesc Psychiatry. 2010 Aug;49(8):794-809. Epub 2010 Jul 3.

Autism spectrum disorders and epigenetics.

Grafodatskaya D, Chung B, Szatmari P, Weksberg R.

Science. 2007 Apr 20;316(5823):445-9. Epub 2007 Mar 15.

Strong association of de novo copy number mutations with autism.

Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T,Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M.

Hum Mol Genet. 2011 Mar 25. [Epub ahead of print]

SYN1 loss-of-function mutations in ASD and partial epilepsy cause impaired synaptic function.

Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, Mottron L, Valtorta F, Nguyen DK,Rouleau GA, Benfenati F, Cossette P.

Hum Genet. 2011 Mar 22. [Epub ahead of print]

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, Delisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA.

Autism Res. 2010 Dec;3(6):303-10. doi: 10.1002/aur.158.

Variants in several genomic regions associated with asperger disorder.

Salyakina D, Ma DQ, Jaworski JM, Konidari I, Whitehead PL, Henson R, Martinez D, Robinson JL, Sacharow S, Wright HH, Abramson RK, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

PLoS Genet. 2011 Feb;7(2):e1001318. Epub 2011 Feb 24.

A population genetic approach to mapping neurological disorder genes using deep resequencing.

Myers RA, Casals F, Gauthier J, Hamdan FF, Keebler J, Boyko AR, Bustamante CD, Piton AM, Spiegelman D, Henrion E, Zilversmit M, Hussin J, Quinlan J, Yang Y, Lafrenière RG, Griffing AR, Stone EA, Rouleau GA, Awadalla P.