When the world is devastated by GMO plants over-running the land and destroying cropland, humanity splits into multiple factions. There’s the people who firmly believe in transforming people so that they can photosynthesize food from the sun–and have green skin. There’s the cannibals, who have returned to a hunter/gatherer way and eat humans when necessary. Unbeknownst to the green folk, there’s a holdout of Old Order Amish. They’ve changed from how they were in the past but still hold onto many of their ways. In particular, they have decided that taking green skin is the Mark of the Beast, and will not go for it.
Tula is a scientist among the green folk who is tasked with assisting cannibal children who are kidnapped and converted. Levi is an Amish who leaves the compound against orders, seeking yet another group of scientists who are supposed to live in a mountain and may have the cure to his dying son’s Cystic Fibrosis. When Levi is swept up in a green raid of cannibal land, his and Tula’s worlds collide with unimaginable consequences.
I picked this up because the cover of a green-skinned woman in a desert appealed to me, and then the description seemed like an interesting post-apocalyptic future. This is certainly and interesting and unique read for any fans of post-apocalyptic or dystopian literature.
The future is imaginative with many different groups and reactions to the botanicaust (the destruction of plant matter that is considered this world’s apocalypse). As someone who has studied the Amish, I appreciated how the author imagined how the Old Order would handle such a crisis and address it for the future. Allowing people into the compound if they are willing to convert seems logical, and showing that the Old Order did accept some technological innovation also makes sense. Similarly, the green scientists who seek to photosynthesize everyone and don’t seem to care too much if the cannibals want to be photosynthesized or not make logical sense. The scientists believe this is the solution in a world without enough food, and hey haven’t bothered to do any cross-cultural studying to see if there is any rhyme or reason or value to the cannibal lifestyle. This again is a logical position for a group of scientists to hold. The other group of scientists who live in the mountain and have managed to find the solution to not aging are a great contrast to the groups of greens. Whereas the greens do sometimes do evil but don’t intend to, they only intend to be helping (with the exception of one bad guy character), the mountain dwellers have been turned inhumane by their abnormally long lives. These three groups set up a nice contrast of pros and cons of scientific solutions and advancement. At what point do we stop being human and at what point are we being too stubborn in resisting scientific advancement? How do we maintain ethics among all of this? The exploration of these groups and these questions was my favorite part of the book.
The plot is complex and fast-paced, visiting many areas of the land and groups of people. I wasn’t particularly a fan of the romance, but I can see where others would find that it adds to the book. I just wasn’t particularly a fan of the pairing that was established, but for no reason other than it seemed a bit illogical to me. Then again, romance is not always logical.
The one thing that really bothered me in the book was the representation of Down Syndrome and the language used to refer to it and those who have it. The mountain scientists have children, but as a result of tampering with their own genetics, all of their children have Down Syndrome. First, I don’t like that this makes it appear as if Down Syndrome is a punishment to the evil scientists who went too far with science. Down Syndrome is a condition some people are born with. It is not a condition as the result of anything a parent did, such as fetal alcohol syndrome. Second, all of the characters with Down Syndrome are presented as large, bumbling oafs with hearts of gold. There is just as much variety to the personalities and abilities of those with Down Syndrome as there are in those of us without Down Syndrome. Finally, the author persists in referring to these characters as:
a Down’s Syndrome woman (loc 2794)
or of course, “a Down’s Syndrome man.” First, the preferred term for Down Syndrome is Down Syndrome, not Down’s Syndrome. This is a mistake that is easy to make, though (I have made it myself), and I am willing to give the author a pass for that. The more upsetting element in the way she refers to these characters though is that she always lists the condition first and then the person, not the other way around. It is always preferred, in any illness or condition, to list the person first and the illness or condition second. For instance, a woman with cancer, not a cancerous woman. A man with PTSD, not a PTSD man. A child with Down Syndrome, not a Down Syndrome child. I cringed every single time this happened, and it happens a lot in the section of the book that takes place in the mountain. Given that this is an indie book, and it is thus quite easy to make editing changes and fixes, I would hope that the author would go through and fix this simple aspect of language. It would be a show of good faith to the entire community of people who have Down Syndrome, as well as their families. For more on the preferred language when referring to Down Syndrome and people who have Down Syndrome, please check out this excellent guide, written by the National Down Syndrome Society.
It’s a real bummer to me that the language about Down Syndrome and presentation of these characters isn’t better, because if it was, this would have been a five star read for me.
Overall, this is an interesting and unique post-apocalyptic future with an action-packed plot. Those who are sensitive to the language used to refer to Down Syndrome and representation of people with Down Syndrome may wish to avoid it, due to an unfortunate section where characters with Down Syndrome are referred to improperly and written a bit two-dimensionally.
4 out of 5 stars
The author has written a thoughtful and kind comment on this post. You may view it by going below. To sum up, she cannot make edits to those book, due to it also having an audiobook version. However, she has promised to edit for these issues in future books containing characters with Down Syndrome. This genuine and thoughtful response is much more than the community of those with Down Syndrome and their families and loved ones often get, and it is very much appreciated.
Raptor Red is one of the utahraptors who’ve newly arrived in what will one day be the western United States. Follow a year of her life as faces being both a predator and, as one of the smaller predator dinosaurs, prey.
I love dinosaurs. Who doesn’t? When I saw that this book was written by a paleontologist, I immediately was intrigued. Who better to tell a story about dinosaurs than someone who studies them extensively? The book certainly presents a realistic view of dinosaurs based on science, but sometimes the story suffers as a result of the intense attention paid to science.
First I just want to say my absolute favorite part of the book is the beginning of each chapter. Each chapter beginning has a small note in the corner about what month it is, but more importantly, it has a hilarious drawing of a dinosaur (or a few) along with a tongue-in-cheek chapter title.
I wish that this ability to both present scientifically realistic dinosaurs and be humorous/cartoonish about them simultaneously had carried through to the writing. The overarching story that the book tells is sound. Raptor Red’s mate dies, and she reunites with her similarly widowed sister while simultaneously looking for a new mate. (This is not a spoiler, it is well-established in the first chapter). But the story on the sentence level is belabored by the author’s apparent need to couch everything in speculations. For instance, instead of just saying Raptor Red stamped her foot angrily, he’ll say something like Raptor Red was probably angry because she stamped her foot, and we know that dinosaurs stamping their foot indicated impatience, and if we believe that higher-thinking animals can feel emotions, then it was probably anger she was feeling. Passages like that really gum up the storytelling. The story would have worked better if he had some disclaimer at the beginning regarding emotions in animals, literary license, etc…, and then just ran with putting emotions on the extremely well-researched animal behavior.
The book teaches the reader a lot about dinosaurs in the context of the story, but the storytelling manner makes the reader get bogged down and realize they’re learning, instead of enjoying a story and happening to get some knowledge about dinosaurs in the process. The former makes for a tough read, in spite of enjoyable illustrations.
Overall, dinosaur enthusiasts will enjoy both the illustrations and the high level of science present in the story. Some may be frustrated by the author’s insistence on not personifying the dinosaurs, in spite of telling a very emotional story of being widowed and finding a new mate. Recommended primarily to those with a vested interest in reading everything dinosaur who won’t mind that the story sometimes suffers at the hands of science.
3 out of 5 stars
Since I finished the Miffy / Nijnjte line for my shop, it was time to think of a new one! I knew I wanted to do something to pay homage to New England, both where I grew up and my current home. It’s a truly beautiful place. The spring weather and planting my (incredibly tiny) container gardening got me to thinking about plants. Then it struck me. I could make a line about the plants you can forage for in New England! Foraging is the act of gathering plants that grow wild to eat, as opposed to gardening. My grandmother on my father’s side was incredibly knowledgeable about foraging. She passed her knowledge on to my dad, who passed it on down to me. Of course, my father knows more about it than I do! I consulted him some on the new line on everything from which plants to choose (there are so many edible wild plants in New England!) to getting the look of each plant just right. I decided that I would include with the plant itself the common name and the scientific name. The line is intended both to decorate and educate.
The plant I chose to stitch up first for the new line is: rhubarb!
Rhubarb features in my favorite pie, strawberry-rhubarb pie! It can also be used in everything from breads to jams to drinks. It has a savory, bitter flavor, so it generally is combined with something sweet to bring out its underlying sweetness. The pattern is stitched on oatmeal aida with the common name (rhubarb) above the plant, and the scientific name (Rheum rhabarbarum) below it. This is done to reflect older hand-drawn plant guidebooks.
Use the coupon code INSTARHU1ST today or tomorrow to get 10% off either item!
ETA 3/5/15: I have now closed my Etsy shop, but I’ve made my patterns available on my Cross-Stitch page.
I post series reviews after completing reading an entire series of books. It gives me a chance to reflect on and analyze the series as a whole. These series reviews are designed to also be useful for people who: A) have read the series too and would like to read other thoughts on it or discuss it with others OR B) have not read the series yet but would like a full idea of what the series is like, including possible spoilers, prior to reading it themselves or buying it for another. Please be aware that series reviews necessarily contain some spoilers.
In the not-too-distant future, the heavily populated world is run by corporations instead of governments. The corps keep their workers and people in Compounds where they’ll be safe from the rampant crime in the rest of the world. Supposedly. Those who can’t get jobs at a corp must live in the pleeblands, essentially ghettoes. The pleeblands are haunted by painballers–people who fought their way out of prison in a gladiator-style competition and who are usually now addicted to drugs.
The world isn’t entirely humans and corps, though. There are also a whole slew of new GMO plants and animals, such as rakunks and pigoons. Children can buy bracelets with live fish inside them as wearable pets.
Jimmy works in a corp with Crake. Crake is a genius who the corp allows to create basically whatever he wants. They share a love interest in Oryx, who works with them, caring for the creations Crake makes. Toby lives in the pleeblands, working in fast food restaurants. She is being pursued by a violent stalker, who she is sure will kill her one day. Then she discovers God’s Gardeners, a vegetarian cult that lives on the rooftops of the city gardening, learning all the species of the planet, and preparing for the impending End Times. And the End Times come in the form of a virus released by Crake to destroy humanity and make room for the new breed of humans he has created in his lab–Crakers. Crakers are herbivorous, polyamorous, and turn blue when they are in heat. The pandemic wipes out almost everyone, but not quite. Jimmy is left to care for the Crakers, and Toby survives, reminiscing about how her life has gone. And there are some that Crake gave an immunity drug to. They gather together and attempt to survive, guide the Crakers, and ponder on how things turned out this way.
The future world, prior to the virus outbreak that destroys most human life, is incredibly imaginative and simultaneously realistic. It is by far the strength of the series. Atwood takes real modern day science and intelligently extrapolates how that combined with our evolving culture would affect life on Earth. The change from politicians and nations controlling the world to corporations doing so makes excellent sense. The types of animals those corps create are also logical both within that context and from a scientific perspective. For instance, the mo’hairs are sheep who have had their genetics modified so that their wool is instead human hair to makes wigs out of. How the world works makes sense and is slightly frightening at the same time. It’s a subtle dystopia.
The post-apocalyptic setting is slightly less creative. Only a few humans survive and quickly leave the cities to live in the countryside. Conveniently, at least half of the group of survivors are from the vegetarian cult, God’s Gardeners, who predicted the end times, and so are well prepared for living in the wild. This setting is much staler compared to the pre-apocalypse dystopia. It feels as if the characters are just sitting in a clearing in the woods chatting at each other. This would not be a problem if the characters were rich enough to sustain the plot when the creative world has disappeared. But most of them are not.
Atwood is known for writing richly imagined female characters in scifi settings. Unfortunately, this series is dominated by men, with the women mostly relegated to secondary roles, with the exception of Toby. Toby starts out strong, and the book focusing on her story (The Year of the Flood) is the strongest of the series as well. But in the post-apocalyptic setting, Toby loses all of her vim and three-dimensionality. She becomes a woman obsessed with a man and pining for things she can’t have. The male characters who dominate the story lack anything compelling. Crake reads precisely as a slightly creepy genius. Jimmy is difficult to get to know since he spends most of the series narrating when he is out of his mind from the effects of the apocalypse. And Zeb reads as a muscled thug who comes to his senses when it best suits him. None of these male characters show real breadth or true humanity. They could have carried the story well, although I would still have missed the strong female presence Atwood brings to scifi. However, these men seem more like caricatures of types of men we meet throughout our lives.
The plot is clearly meant to show us how the world could be destroyed and also how new life begins, complete with religious mythology. Some of the plot twists that go with this core of the plot work and others don’t. For the world destroying, the plot approaches it in two ways. There’s telling how the world ends from an outsider, underprivileged perspective of a woman who happens to survive. This aspect of the plot had enough twists and differences, such as Toby’s involvement in the God’s Gardeners cult, that it maintained interest. The plot also tells how the world ends from the perspective of a man caught in a hopeless hetero love triangle with a kind woman and an evil genius. This common trope takes no different plot twists or turns. It is entirely predictable and dull. A bit of a flop. The twists in the final third of the story, how the world begins and the last of the prior world fades out with a murmur, does nothing truly daring. Toby’s romance ends essentially as expected. Loose ends are tied up. And the Crakers take over with a new mythology given to them by a flawed human being. I’m sure this is meant to say something radical, and maybe someday to someone it will, but to the reader who has already read many thinly veiled take-downs of religion and where it comes from in scifi, it was rather ho-hum and long-winded. Particularly when compared to the much shorter and more richly written work by Atwood taking a similar anti-religion stance: The Handmaid’s Tale.
Overall, this is a series with two-thirds of the plot set in a richly imagined and intelligently extrapolated subtle dystopia future. The basic plot of dystopia to apocalypse to post-apocalypse is told slightly non-linearally with some interesting poetic-style writing inserted in-between chapters. Most of the characters feel flat against the rich backdrop, although one female character at first stands out then slowly fades. Recommended to readers interested in a realistic near future dystopia who don’t mind a rather typical plot and two-dimensional characters will enjoy most of the series, although they may enjoy the first two books more than the third.
3.5 out of 5 stars
Source: PaperBackSwap, library, and Audible
I recently went to a town meeting on Open Access (OA) and our Institutional Repository (IR). (Universities and colleges have our own town meetings, because we’re basically our own mini-towns). This meeting spurred me on to do a bit of a blog post on OA and IRs. I’ll first give a brief explanation of OA and IRs, including links to some resources for more information, and wrap up with my own thoughts.
OA is the concept and movement within academia that access to academic literature should be free online and free of most copyright restrictions. The idea is that for knowledge to flourish the exchange of ideas should be as free and fluid as possible. Because this is a concept and movement this means that not everyone agrees with this idea. Agreement and support of OA also varies drastically by area of specialty. The sciences are the most supportive of OA, particularly Physics. This is evident by the existence of the website arXiv.org, which provides “open access to 792,606 e-prints in Physics, Mathematics, Computer Science, Quantitative Biology, Quantitative Finance and Statistics.” The humanities are less so. This has to do with the culture of the different disciplines. The sciences are more focused on teamwork and sharing new knowledge as quickly as possible, whereas the humanities tend to be more concerned with ruminating on ideas. The pace is simply faster in the sciences than in the humanities, and OA is more useful in that environment.
Utilizing and supporting OA comes across in a few different ways. There are OA journals, which are free to use, but not necessarily free to submit an article to. To those concerned, the submission fee does not guarantee acceptance of an article. It is simply there to help the OA journals function. Studies on the percentage of OA journals charging a fee vary rather widely on their final numbers. These fees are of concern to faculty members, though, because they can quickly go through grant money that could have been used in other ways just paying submission fees. Although there originally was concern as to the quality of OA journals, OA does not negate peer-review. There are many peer-reviewed and respected journals; the PLOS ones in particular spring to mind, but you can see a listing of all OA journals at the Directory of Open Access Journals. Academics can support OA both by submitting to and reading OA journals, and institutions can support OA by giving articles published in OA journals equal consideration when doing tenure reviews.
OA can be pursued in traditional publishing as well, however. Frequently faculty members do not fully understand what is happening with their copyright when they sign contracts with a publisher. The creator owns the copyright of an item at the moment of creation. He or she does not need to register it. This is not always clear to people because from 1923 to 1963 (in the US) you did have to register your copyright and re-register it every 28 years. Anything published before 1923 in the US is officially in the public domain aka free of copyright. This is why mashups such as Pride and Prejudice and Zombies can happen. What all this means is that the author of the paper owns copyright until they sign it over to the publisher, and they do not have to kowtow to all of the demands of the publisher. OA advocates encourage authors to return the contract to the publisher unsigned with a SPARC Addendum attached. This addendum gives the publisher some rights over the paper/article/book while retaining some for the author. What this essentially means is that the author retains certain rights over his or her article that most faculty members think they have anyway. Only now it’s legal. For instance, this addendum gives the author permission to deposit their paper in an Institutional Repository or include it in a group of pdfs of publications on their personal website, as long as it is properly cited to the journal of first publication.
A popular way for publishers to support OA while still staying in business, beyond agreeing to SPARC Addendums, is the concept of an embargo. An embargo means that articles are available exclusively through subscription and fees for a set period of time (usually from 6 months to 2 years), and after that point they are available through OA. The qualm some advocates of OA have with this model is that for certain fields of study, particularly in the sciences, the embargo period is long enough that the article will be practically irrelevant by the time it is available openly, thereby defeating the whole purpose of encouraging collaboration and free flow of ideas behind OA to begin with.
So what do Institutional Repositories (IRs) have to do with OA? An IR is a curated collection of all academic publishing, as well as collections such as photographs taken by anthropologists, created by scholars associated with the institution. The IR is the institution’s research portfolio. It’s important for the institution to be able to demonstrate to interested parties the valuable work their scholars are doing. The connection to OA is that the current restrictive copyright contracts publishers send to authors frequently make it impossible to include their works in the IR. The SPARC Addendum addresses this, but an institution can also address this concern by making it a mandate that all scholarly work done while at their institution be deposited in the repository. This gives the author a prior commitment that is usually already covered in the contract. A pioneer in the world of IRs is MIT’s IR: DSpace. Check them out to get a feel for what an IR is like.
So what do I think about all of this? I can understand and sympathize with all three sides (universities, scholars, and publishers). The publishers are concerned that they will go out of business if everything is available immediately in OA. As an indie author, I can easily see how valid that concern is. Frankly if OA does take off the way, say, literary zines have, most journals will go out of business. Yes a few big name zines are still surviving, and most zines also sell a print version and do alright with that, but publishing as we know it must change for OA to take hold. Of course one doesn’t want that in one’s own industry.
I can also understand the dual view scholars hold. Academic journals are peer-reviewed, and while OA journals can be, they aren’t necessarily. OA can seem like a scary free-for-all with no verification of facts or quality. Things don’t always become popular because they’re good. But on the other hand if your audience is other scholars, aka the peer part of peer-review, then it should work itself out anyway. Not to mention the fact that OA journals can mandate peer-review if they want to. Similarly, I get it that scholars usually want to share their work with anyone interested and to that end want to post the pdfs on their website. The problem is, though, if a person can get your article just by googling it and going to you instead of the publisher then we’re right back to putting the publisher who published you in the first place out of business. But if publishing changes the way we think it will, then that would be a moot point anyway.
As far as IRs go, I truly see their value for gray literature. Things like posters from poster sessions, dissertations and theses that are frequently not available or searchable otherwise, etc… but I also think an institution obsessively collecting a copy of everything every scholar has done is a bit redundant. Not that the institution shouldn’t ever broaden to that level of collection and archiving, but since IRs are so new, it might be better to focus in on the gray literature for now.
Overall though the change won’t really happen until institutions start accepting OA publications in the tenure process. Until that point all scholars must publish in traditional journals in order to secure tenure. It seems to me that the power is really in the hands of the universities. The universities must decide: what do we want true scholarship and academic achievement look like in the 21st century?
Book Review: Rabid: A Cultural History of the World’s Most Diabolical Virus by Bill Wasik and Monica Murphy
My new library (where I work as a librarian) serves a school of public health. Working with these students has opened up a whole new world of science to me. Public health is a fascinating combination of medicine, science, culture, and communication. So when I saw this public health book on Netgalley, I knew I needed to give it a shot.
This is a completely fascinating book. Prior to reading it, my main knowledge of rabies came from that episode of Dr. Quinn Medicine Woman where her adopted son’s dog gets rabies and bites her other adopted son’s fiancee. I didn’t really understand how much of a plague it used to be, but I did know that you’re required to get your pets vaccinated for it.
I learned SO MUCH from this book! And it wasn’t a struggle to read or absorb the information either. Wasik and Murphy strike that hard to find balance in writing science for the layman. They explain complex, scientific things without so much scientific terminology as to be a struggle for the average reader but with enough so that you’ve still learned something. For instance:
With most zoonotic leaps in disease, animal contact is the spark, but urbanization is the bone-dry tinder; a newly evolved pathogen can’t spread from person to person, after all, unless people run across one another in the first place. (location 453)
There are a few passages that use more scientific terminology than that, but they only use them after explaining them. You do not have to be a scientist to be able to read, enjoy, and learn from this book.
The basic structure of the book is typical of a history book. In fact, think of it kind of as a scientific history book. It starts with the earliest accounts of rabies and moves up through time to the present. The strongest passages are: Greco-Roman history of the disease, Dark Ages history of the disease, Pasteur’s creation of a vaccination, and the modern day outbreak in Bali. These strike the perfect balance of discussing the understanding and treatment of the disease and the reflections of rabies and fear of rabies in popular culture of that time period.
For instance, in the Greco-Roman period we learn:
Pliny’s thoughts tend to involve using the animal to treat the man. His best-known cure—to “insert in the wound ashes of hairs from the tail of the dog that inflicted the bite”—lives on today in our expression “hair of the dog,” referring to a not-quite-so-dubious hangover remedy. (location 473)
Or this fascinating bit of public health history in the Pasteur section:
Pasteur’s collaborator Roux believed that Pasteur selected rabies as a subject for research as a calculated bit of stagecraft, so that his ideas about vaccination would attract maximum public interest. (location 1714)
The other sections, particularly the era after the vaccine to about the 1980s, suffer a bit from a lack of focus and direction. There’s a part where the authors try to convince us that zombies are a reflection of a latent fear of rabies. Ok? But that’s rather speculative compared to the rest of the book. There are other elements of pop culture that are nowhere near as loosely connected that they discuss, such as the actual rabies books and movies that came out in the UK when the Chunnel was put in and people were afraid that rabid animals would come over to the island nation from France. That is a tight, interesting connection. The zombie one was a bit of a stretch. I was more interested in more information on things like Old Yeller and why the authors think that even with the vaccine in the US and very little threat at the time the public still was fascinated with the idea of a rabid dog.
The book also explores other zoonotic diseases (diseases that originate in non-human animals). Although this is also technically not rabies, this connection makes a lot more sense, particularly since more started cropping up in the 20th century after rabies was beaten down by vaccination. The knowledge we have from working against rabies and promoting vaccination of it via public health initiatives could really help with things like HIV/AIDS and H1N1. This is using past public health experience to aid in future endeavors, which helps give the book a certain umph and validity for modern readers.
So, although the book struggles a bit during the early 20th century time period, the rest of it is very well put-together. It is written at the appropriate level for a popular science history book. It is easy to learn from and includes lots of fascinating tid-bits in addition to the basic rabies history and information. It also demonstrates as a kind of side-story the history of public health. I recommend it to anyone with an interest in the history of rabies, the history of vaccination, and most especially to those with an interest in public health issues.
4 out of 5 stars
The Neuroscience of Autism and Learning Disabilities (Science Librarian Boot Camp 2012 Tufts University)
Instead of inundating you with my notes from yet another professional development session, I decided to select out my favorite part to share with you all. Out of everything I did in the Science Librarian Boot Camp, I enjoyed the Neuroscience presentations the most. So, here they are. Enjoy!
“Genetics of Neurodevelopmental Disorders,” Dr. Anthony Moncao, Tufts University
- Genetics studies Genes. Neurodevelopment studies Proteins and Regulatory DNA. Imagining studies the Brain. Psychiatry studies Behavior.
- Genes aren’t determinative. They interact with the environment.
- There is very strong evidence that genetic factors increase risk.
- Susceptibility genes–genes that with environmental factors increase risk for these diseases
- How do we find susceptibility genes?
- Identify a chromosomal translocator and neurodevelopmental disorder.
- Copy number variants –> Deletion or addition/duplication of material. We all have these in some variation but in some instances they hit important areas. They are inherited or de novo (neither parent had it).
- What is “strict” Autism?
- Impairment in: verbal and nonverbal communication, reciprocal social interaction, repetitive and stereotyped patterns of interest (don’t ilke change)
- Onset before 3 years
- male to female ratio: 4 to 1
- Autism Spectrum includes Asperger Syndrome, PDD-NOS (removed from DSM5)
- Autism Spectrum has a combined incidence of about 1%
- 5% of Autism Spectrum disorders are comorbid with Fragile X, Tuberous Sclerosis, Down’s, muscular dystrophy, and other Mandelian disorders.
- What are the genetic factors in Autism?
- heritability is about 85 to 92%
- rate among siblings is 3 to 9%
- It is one of the most strongly genetic of childhood-onset psychiatric disorders.
- No evidence yet for genes with variants in all forms of Autism.
- Hardly any two autistic kids are gonna be the same (genetically).
- Many of these genes are important in synapses.
- Cadherin 8 (CDH8) is probably the culprit in these microdeletions.
- Variable expressivity –> a deleted gene can cause multiple different outcomes (autsim, learning disorder, etc…) so evidence is strong environment is a factor
- Future prospects include: Cohorts, sequencing, translation, use of rare CNVs diagnostically, genetic counseling, early intervention for sibs, CNVs may help us predict the outcome.
- Projected future difficulties include: CNVs are common, so we have to be sure the one we’re calling Autism really is. Ethical issues of testing children before they have any symptoms.
- Autism has very complex etiology.
- Collaboration is important to make progress.
- Specific Language Impairment.
- Just as frequent as dyslexia/autism.
- It is a difficulty acquiring expressive and/or receptive language despite adequate intelligence and no physical problems (ie deafness). Problems in producing and comprehending speech, problems reading, normal nonverbal IQs.
- It has an almost 100% heritability.
- Inheritance is simple but complex phenotype.
- The damaged gene –> FOXP2
- A transcription factor.
- Important in how the rest of the gene is regulated. Kind of like a master switch.
- Not the gene for speech (found in nonverbal species but important in vocalizations. Mice won’t squeak properly. Songbirds can’t learn songs if it is damaged.)
- FOXP2 inhibits CNTNAP2 from being expressed (Sitting on it and not letting it make RNA).
- Where is FOXP2 expressed in the brain? In the basal ganglia, phallus, cerebellum (motor centers).
- Chimps are more similar to mice than humans in this gene.
- FOXP2 is a regulatory gene. Its downstream targets offer entrypoints into neural pathways involved in speech and language.
- Developmental Dyslexia.
- It is a diagnosis of exclusion.
- 5% of schoolchildren have it.
- Males are 3 to 4 times more effected than females.
- Gene variant is two times as frequent in dyslexics as in controls.
- Variants in KIAA0319 repress the expression of the gene.
- These variants increase risk in reading problems in the general population.
- May inhibit migration of neurons to the right are of the cortex.
- ectopia–small bundles of neurons in the wrong area of the cortex
- 4 dyslexia susceptibility genes have been found so far.
- All 4 play a role in neuronal migration and/or axonal growth.
- DNA is not determinative. There are many other factors involved.
“Neuroimaging of Children’s Brains,” Dr. Jean Frazier, UMass Med
- Goal: To explore how neuroimaging techniques provide insight into potential biomarkers for childhood onset neuropsychiatric disorders.
- Basic principles of brain development: structures start small, get big, then get small again
- 8 to 14 is an important age range.
- They exuberate then prune, and it is the pruning that is important.
- The more complicated a process is the more potential it could go awry.
- Pruning is guided by “use it or lose it.”
- The exact timing varies by structure.
- birth to 3–time of rapid intellectual, emotional, and physical growth of brain and brain wiring
- by age 6–95% of brain development completed
- 8 to 13–2nd major brain growth spurt
- 13 to 20s–pruning to organizing, especially in frontal cortex.
- We can measure things that require energy using: PET, SPECT, fMRI, EEG, MEG
- What MRI can tell us: structure, metabolites, blood flow, connectivity
- MRS–noninvasive, analytic method to measure chemicals within body parts
- If we are going to fully appreciate what is going wrong in brains, we have to fully understand what is going right in brains.
- Whereas gray matter gets pruned, white matter increases.
- Less gray matter, brain becomes more efficient.
- But what happens in atypical development?
- More blood flow in amygdala of depressed and anxious.
- amygdala–governs ability to modulate our affect
- Bipolars have abnormal connectivity in brain, especially in areas dealing with affect regulation and attentional capacity.
- Application to Autism?
- Recommends “Localization of white matter volume increase in autism and developmental language disorder” in Annals of Neurology by Herbert et al
- Children with autism have more white matter.
- Tracks most severely affected in Autism are growing/changing just after birth.
- Biomarkers are a distinct characteristic that is an indicator of a particular biological condition or process.
- Maybe the genetic risk factors are indicators of the dysfunction not the disorder.
- Both schizophrenia and autism symptom is social withdrawal.
- 1 in 54 boys and 1 in 252 girls (1 in 88 children) have Autism Spectrum, according to study from 2008
- Inhibition of GABA and excitation of Glutamate are associated with autism.
- Tuberous make too little of a certain protein. Fragile X makes too much.
- Glutamate levels are higher in Autism.
- Biomarkers could be used as predictors for treatment response.