Home » neurodiversity
Category Archives: neurodiversity
It is easy to ask “what is the brain, and how does it work?” A much more difficult question is “what is the mind?,” and “what is consciousness?”
Consciousness is “awareness or sentience of internal or external existence”.
Despite centuries of analyses, definitions, and debates by philosophers and scientists, consciousness remains puzzling and controversial. It is “at once the most familiar and most mysterious aspect of our lives”.
Perhaps the only widely agreed notion about the topic is the intuition that it exists.Opinions differ about what exactly needs to be studied and explained as consciousness. Sometimes it is synonymous with ‘the mind’, other times just an aspect of mind. In the past it was one’s “inner life”, the world of introspection, of private thought, imagination and volition.
Today, with modern research into the brain it often includes any kind of experience, cognition, feeling or perception.
There might be different levels or orders of consciousness, or perhaps different kinds of consciousness – or just one kind with different features.
Other questions include whether only humans are conscious or all animals or even the whole universe. The disparate range of research, notions and speculations raises doubts whether the right questions are being asked.
( – Wikipedia, adapted, Consciousness)
Are there levels of consciousness?
Consciousness isn’t binary (It exists, or it doesn’t exist.) Rather, it seems to exist on a smooth continuum from not at all, all the way up to what we humans experience.
There’s no reason to assume that our awareness & consciousness is the highest level – there may be higher levels, or different kids that we can’t imagine.
Image below from A better way to test for consciousness?
How does this relate to our bodies? What if we look at consciousness on the level of a person, and then down to smaller biological components?
Or what if we look at this on the level of a person, and then see how this changes when we look at how many people think when they interact?
“The scale problem of consciousness: Human conscious experience does not reflect information from every scale. Only information at a certain coarse-grained scale in the neural system is reflected in consciousness.”
Image from Chang, Acer & Biehl, Martin & Yu, Yen & Kanai, Ryota. (2019). Information Closure Theory of Consciousness.
The hard problem of consciousness
“The meta-problem of consciousness is (to a first approximation) the problem of explaining why we think that there is a problem of consciousness.”
– Chalmers on the Meta-Problem
The hard problem of consciousness is the problem of explaining how atoms and molecules work together to create a living being – like us! – that actually feels and experiences the world. How does a living person – like us! – experience awareness? How can we feel alive, experience our own thoughts – when we are built out of parts that have no awareness at all?
How the brain works is one thing – that’s the (relatively!) “easy” problem. We already have learned much about the anatomy of the brain and what kind of cells it is made of. We’re learning how information is sent from our eyes, ears, skin, etc. to the brain. We have even begin to learn how the brain mechanically follows the laws of physics to store, recall, and process information.
But how can we humans (and presumably, animals) experience qualia – instances of subjective, conscious experience?
The philosopher David Chalmers is the first to clearly and forcefully make people aware of what an amazingly hard question is, this hard problem of consciousness.
Easy problems are (relatively) easy because all that is required for their solution is to specify a mechanism that can perform the function. That is, regardless of how complex the phenomena of easy problems may be, they can eventually be understood by following science as we have always known it.
But the hard problem of consciousness will “persist even when the performance of all the relevant functions is explained”.
Chalmers, David (1995). “Facing up to the problem of consciousness” Journal of Consciousness Studies. 2 (3): 200–219.
We should note that the very existence of this hard problem is controversial. It has been accepted by most philosophers of mind but its existence is disputed others.
Is consciousness an illusion?
Physical correlates of consciousness
If consciousness if real, then presumably it correlates to something going on in our brain. What are the physical correlates of consciousness?
The controversial correlates of consciousness, George A. Mashour, Science 04 May 2018:
Vol. 360, Issue 6388, pp. 493-494, DOI: 10.1126/science.aat5616
Neuroscience Readies for a Showdown Over Consciousness Ideas: To make headway on the mystery of consciousness, some researchers are trying a rigorous new way to test competing theories. Philip Ball, 3/6/2019, Quanta Magazine
Visualizing how consciousness might work
Consciousness might be explained by it being an emergent phenomenon,
Analogy – we can’t predict the existence or behavior of oceans from looking at a single molecule of water. Yet when enough liquid water molecules come together, an ocean – with all of its complex behavior – emerges.
Perhaps consciousness is similar. It might emerge from the interplay of dynamics that we already are beginning to learn about.
“Psychologist and neuroscientist Grit Hein and Ernst Fehr from the Department of Economics, University of Zurich teamed up with Yosuke Morishima, Susanne Leiberg, Sunhae Sul and found that the way relevant brain regions communicate with each other is altered depending on the motives driving a specific behavioral choice.”
Hein G, Morishima Y, Leiberg S, Sul S, & Fehr E (2016). The brain’s functional network architecture reveals human motives. Science, 351 (6277), 1074-8 PMI
In physics and philosophy, one way to learn about something is to create a gedankenexperiment (“thought experiment.”).
It may be possible to learn more about minds and consciousness by creating philosophical/biological thought experiments. The most well known one is the question of the philosophical zombie:
A philosophical zombie is a hypothetical being who is physically identical to a normal human being, but completely lacks conscious experience. – David Chalmers.
If a philosophical zombie is possible, then conscious experience is independent of physical world.
This image from Masatoshi Yoshida the-hard-problem-of-consciousness
What Is Consciousness? Scientists are beginning to unravel a mystery that has long vexed philosophers, By Christof Koch, Scientific American, June 1, 2018
Autism, Asperger’s, Neurotypical issues
Scientific articles: External links
Claims of links between autism and probiotics
Opinion pieces and personal reflections
Idea: The “Autism-Asperger’s Spectrum” is just a convenient way to talk about many different conditions. Scientists studying autism say that this spectrum actually is a combination of many different conditions; each condition now appears t0 have a different genetic origin. See Is a ‘Spectrum’ the Best Way to Talk About Autism?
Idea: Autism usually isn’t caused by one mutation by itself. Many mutations increase the chances of some condition developing, but the condition is often due to the gene plus some other triggering factor, perhaps:
a) exposure to a pathogen or hormone during gestation
b) There are molecular switches on top of the genes, epigenes. Sometimes genes only have a significant effect if the epigenetic switches are engaged in one way; but otherwise that gene variation might have little noticeable effect.
Autism genetics, explained
by Nicholette Zeliadt, June 27, 2017
Spectrum. [Spectrum began in 2008 as the News & Opinion section of SFARI.org. Simons Foundation Autism Research Initiative (SFARI). In the summer of 2015, we spun off to create an independent online identity.
How do researchers know genes contribute to autism? Since the first autism twin study in 1977, several teams have compared autism rates in twins and shown that autism is highly heritable. When one identical twin has autism, there is about an 80 percent chance that the other twin has it too. The corresponding rate for fraternal twins is around 40 percent.
However, genetics clearly does not account for all autism risk. Environmental factors also contribute to the condition — although researchers disagree on the relative contributions of genes and environment. Some environmental risk factors for autism, such as exposure to a maternal immune response in the womb or complications during birth, may work with genetic factors to produce autism or intensify its features.
Is there such a thing as a [single] autism gene? Not really. There are several conditions associated with autism that stem from mutations in a single gene, including fragile X and Rett syndromes. But less than 1 percent of non-syndromic cases of autism stem from mutations in any single gene. So far, at least, there is no such thing as an ‘autism gene’ — meaning that no gene is consistently mutated in every person with autism. There also does not seem to be any gene that causes autism every time it is mutated.
Still, the list of genes implicated in autism is growing. Researchers have tallied 65 genes they consider strongly linked to autism, and more than 200 others that have weaker ties. Many of these genes are important for communication between neurons or control the expression of other genes.
How do these genes contribute to autism?
Changes, or mutations, in the DNA of these genes can lead to autism. Some mutations affect a single DNA base pair, or ‘letter.’ In fact, everyone has thousands of these genetic variants. A variant that is found in 1 percent or more of the population is considered ‘common’ and is called a single nucleotide polymorphism, or SNP.
Common variants typically have subtle effects and may work together to contribute to autism. ‘Rare’ variants, which are found in less than 1 percent of people, tend to have stronger effects. Many of the mutations linked to autism so far have been rare. It is significantly more difficult to find common variants for autism risk, although some studies are underway.
Other changes, known as copy number variations (CNVs), show up as deletions or duplications of long stretches of DNA and often include many genes.
But mutations that contribute to autism are probably not all in genes, which make up less than 2 percent of the genome. Researchers are trying to wade into the remaining 98 percent of the genome to look for irregularities associated with autism. So far, these regions are poorly understood.
Are all mutations equally harmful?
No. At the molecular level, the effects of mutations may differ, even among SNPs. Mutations can be either harmful or benign, depending on how much they alter the corresponding protein’s function. A missense mutation, for example, swaps one amino acid in the protein for another. If the substitution doesn’t significantly change the protein, it is likely to be benign. A nonsense mutation, on the other hand, inserts a ‘stop’ sign within a gene, causing protein production to halt prematurely. The resulting protein is too short and functions poorly, if at all.
How do people acquire mutations?
Most mutations are inherited from parents, and they can be common or rare. Mutations can also arise spontaneously in an egg or sperm, and so are found only in the child and not in her parents. Researchers can find these rare ‘de novo’ mutations by comparing the DNA sequences of people who have autism with those of their unaffected family members. Spontaneous mutations that arise after conception are usually ‘mosaic,’ meaning they affect only some of the cells in the body.
Can genetics explain why boys are more likely than girls to have autism?
Perhaps. Girls with autism seem to have more mutations than do boys with the condition. And boys with autism sometimes inherit their mutations from unaffected mothers. Together, these results suggest that girls may be somehow resistant to mutations that contribute to autism and need a bigger genetic hit to have the condition.
Is there a way to test for mutations before a child is born?
Clinicians routinely screen the chromosomes of a developing baby to identify large chromosomal abnormalities, including CNVs. There are prenatal genetic tests for some syndromes associated with autism, such as fragile X syndrome. But even if a developing baby has these rare mutations, there is no way to know for sure whether he will later be diagnosed with autism.
Article source https://spectrumnews.org/news/autism-genetics-explained/
Most Autism Cases Can Be Explained by Faulty Genes, New Research Confirms: We understand it better than ever. By Mike Mcrae, Sept 27, 2017.
A fresh look at data from earlier research has reaffirmed what many researchers had thought – autism is primarily in the genes.
Other studies have shown autism spectrum disorder (ASD) tends to cluster in families and is associated with particular genes, but nailing down the risks with precision is a complex task. This new research has put a figure on the chances, claiming 83 percent of autism cases are inherited.
The study led by researchers from the Ichan School of Medicine in New York reanalysed a Swedish longitudinal study that involved over 2.6 million pairs of siblings, 37,570 pairs of twins, and just under a million half-sibling pairs.
Of these, 14,516 children had an ASD diagnosis.
Autism and its associated spectrum of conditions is a rather complex disorder, distinguished by difficulties in communicating and engaging in social interactions.
The signs usually aren’t all that clear until a child might be expected to develop advanced communication skills, around age 2 to 3, making it hard to untangle genetic and environmental causes.
In fact, as recently as just half a century ago, physicians thought it could be the result of a lack of maternal love and affection.
Studies that have focussed on finding links between family relationships have come up with a variety of figures on the genetics of ASD.
Twin studies have suggested as many as 9 out of 10 children with autism inherited the condition through their combination of genes, though other studies have also put a more conservative estimate down towards 60 percent.
One study published in 2011 conducted by researchers from Stanford University in California put the chances of genetic heritability at around 38 percent for ASD.
An analysis conducted in 2014 also calculated a lower number, nearer to just 50 percent.
Which of these numbers are more accurate?
The researchers were skeptical of how the 50 percent figure was determined, suspecting that by taking into account the precise timing of the autism diagnosis, the estimate was being distorted.
So the researchers took the same massive data-set on Swedish children and used another method that had previously proven itself in the field, identifying a model that fitted best.
Their conclusion of 83 percent is closer to the 90 percent determined by earlier twin studies than the 38 percent of the California research, and was estimated with higher precision.
“Like earlier twin studies, shared environmental factors contributed minimally to the risk of ASD,” write the researchers.
While we can be confident that genes play a key role in the development of the traits associated with ASD, we can also be sure that this won’t be the final word on the matter.
For one thing, just one in 68 children is diagnosed with the disorder. While not extraordinarily rare, it’s uncommon enough to make it hard to find a large enough sample size for precise predictions.
The condition isn’t cut and dried, either, with the spectrum covering a range of behaviours and functions. It affects just 1 in 189 girls, while 1 in 42 boys are diagnosed.
Progress is being made in determining which genes are responsible for the neurological variations that give rise to autism-like functions, but it’s slow going.
New research suggests a small fraction of the genes responsible might not be present in parents at all.
A recent study published in the American Journal of Human Genetics reported on the systematic analysis of genetic mutations among 2,300 families who had a single child affected by autism.
They found genetic changes that occur after conception – called postzygotic mosaic mutations – could be responsible for autism in around 2 percent of the individuals in their sample.
“This initial finding told us that, generally, these mosaic mutations are much more common than previously believed. We thought this might be the tip of a genetic iceberg waiting to be explored,” says researcher Brian O’Roak from Oregon Health & Science University.
We’re still a long way off mapping and understanding the role genes play in how our brains interact socially. And for all of this research, the environment can’t be ruled out completely. The more we discover, however, the clearer it is that ASD isn’t a condition we can easily prevent by simply making the right choices as a parent.
This research was published in JAMA. Source: https://www.sciencealert.com/researchers-find-most-autism-cases-can-be-explained-by-faulty-genes
Primary source: Research Letter. September 26, 2017
The Heritability of Autism Spectrum Disorder
Sven Sandin, PhD1; Paul Lichtenstein, PhD2; Ralf Kuja-Halkola, PhD2; et al Christina Hultman, PhD2; Henrik Larsson, PhD3; Abraham Reichenberg, PhD1
JAMA. 2017;318(12):1182-1184. doi:10.1001/jama.2017.12141
Half of all autism cases trace to rare gene-disabling mutations
Researchers identify short list of high-impact genetic causes of autism; see potential to guide personalized treatments
New research suggests that, in at least half of cases, autism traces to one of roughly 200 gene-disabling mutations found in the child but neither parent.
Many of these “high-impact” mutations, the investigators found, completely disable genes crucial to early brain development. In addition, they appear to be more common among people who are severely disabled by autism versus those only mildly affected.
The study, by scientists at Cold Spring Harbor Laboratory, New York, appears this week in the Proceedings of the National Academy of Sciences. (Download the full paper here.)
The DNA analysis of 1,866 families affected by autism looked at the growing list of more than 500 gene changes known to increase autism risk. It identified 239 genes with the greatest likelihood of causing autism if any one of them was disabled by a mutation.
The study’s findings also run counter to the commonly held idea that autism almost always results from a complex interplay of common and subtle gene changes and environmental influences – none of which would cause autism by itself.
This shortened “priority list” may prove particularly helpful to doctors and geneticists using genetic screens to guide diagnosis and personalized treatment, comments Mathew Pletcher, head of Autism Speaks’ genomic discovery program. Dr. Pletcher was not involved in the research.
“These findings argue strongly that genetics can provide meaningful answers for a significant portion of individuals with autism,” Dr. Pletcher explains. “From this extends the idea we can provide better care and support by deepening our understanding of the health risks that arise from each person’s specific genetic disruption.”
Most of the high-impact mutations identified in the new study occurred in the child but neither parent. Such newly arising, or de novo, mutations first occur in the mother’s egg, the father’s sperm or early in embryo development.
Some of the first research out of the Autism Speaks MSSNG project implicated de novo mutations in the higher rates of autism seen among children of older parents. With age, a woman’s eggs and a man’s sperm-producing cells tend to accumulate these mutations. And one potential source of these accumulating mutations, Dr. Pletcher notes, is lifetime exposure to environmental “insults” such as radiation and toxic chemicals (naturally occurring or otherwise).
Scientific paper: Low load for disruptive mutations in autism genes and
their biased transmission. Authors: Ivan Iossifova, Dan Levya… and Michael Wiglera.
PNAS 2015 October, 112 (41) E5600-E5607.
Fathers bequeath more mutations as they age
Genome study may explain links between paternal age and conditions such as autism.
Ewen Callaway, 22 August 2012
In the 1930s, the pioneering geneticist J. B. S. Haldane noticed a peculiar inheritance pattern in families with long histories of haemophilia. The faulty mutation responsible for the blood-clotting disorder tended to arise on the X chromosomes that fathers passed to their daughters, rather than on those that mothers passed down. Haldane subsequently proposed1 that children inherit more mutations from their fathers than their mothers, although he acknowledged that “it is difficult to see how this could be proved or disproved for many years to come”.
That year has finally arrived: whole-genome sequencing of dozens of Icelandic families has at last provided the evidence that eluded Haldane. Moreover, a study published in Nature finds that the age at which a father sires children determines how many mutations those offspring inherit2. By starting families in their thirties, forties and beyond, men could be increasing the chances that their children will develop autism, schizophrenia and other diseases often linked to new mutations. “The older we are as fathers, the more likely we will pass on our mutations,” says lead author Kári Stefánsson, chief executive of deCODE Genetics in Reykjavik. “The more mutations we pass on, the more likely that one of them is going to be deleterious.”
Haldane, working years before the structure of DNA was determined, was also correct about why fathers pass on more mutations. Sperm is continually being generated by dividing precursor cells, which acquire new mutations with each division. By contrast, women are born with their lifelong complement of egg cells.
Stefánsson, whose company maintains genetic information on most Icelanders, compared the whole-genome sequences of 78 trios of a mother, father and child. The team searched for mutations in the child that were not present in either parent and that must therefore have arisen spontaneously in the egg, sperm or embryo. The paper reports the largest such study of nuclear families so far.
Fathers passed on nearly four times as many new mutations as mothers: on average, 55 versus 14. The father’s age also accounted for nearly all of the variation in the number of new mutations in a child’s genome, with the number of new mutations being passed on rising exponentially with paternal age. A 36-year-old will pass on twice as many mutations to his child as a man of 20, and a 70-year-old eight times as many, Stefánsson’s team estimates.
The researchers estimate that an Icelandic child born in 2011 will harbour 70 new mutations, compared with 60 for a child born in 1980; the average age of fatherhood rose from 28 to 33 over that time.
Most such mutations are harmless, but Stefánsson’s team identified some that studies have linked to conditions such as autism and schizophrenia. The study does not prove that older fathers are more likely than younger ones to pass on disease-associated or other deleterious genes, but that is the strong implication, Stefánsson and other geneticists say.
Previous studies have shown that a child’s risk of being diagnosed with autism increases with the father’s age. And a trio of papers3–5 published this year identified dozens of new mutations implicated in autism and found that the mutations were four times more likely to originate on the father’s side than the mother’s.
The results might help to explain the apparent rise in autism spectrum disorder: this year, the US Centers for Disease Control and Prevention in Atlanta, Georgia, reported that one in every 88 American children has now been diagnosed with autism spectrum disorder, a 78% increase since 2007. Better and more inclusive autism diagnoses explain some of this increase, but new mutations are probably also a factor, says Daniel Geschwind, a neurobiologist at the University of California, Los Angeles. “I think we will find, in places where there are really old dads, higher prevalence of autism.”
However, Mark Daly, a geneticist at Massachusetts General Hospital in Boston who studies autism, says that increasing paternal age is unlikely to account for all of the rise in autism prevalence. He notes that autism is highly heritable, but that most cases are not caused by a single new mutation — so there must be predisposing factors that are inherited from parents but are distinct from the new mutations occurring in sperm.
Historical evidence suggests that older fathers are unlikely to augur a genetic meltdown. Throughout the seventeenth and eighteenth centuries, Icelandic men fathered children at much higher ages than they do today, averaging between 34 and 38. Moreover, genetic mutations are the basis for natural selection, Stefánsson points out. “You could argue what is bad for the next generation is good for the future of our species,” he says.
Nature 488, 439 (23 August 2012) doi:10.1038/488439a
Male biological clock possibly linked to autism, other disorders
Nature Medicine 14, 1170 (2008) doi:10.1038/nm1108-1170a
Over the last few years, epidemiological evidence has suggested that as men age their odds of having a child with autism, schizophrenia or bipolar disorder might increase. The findings, along with more recent genetic data have led researchers to ask whether the mutations that accumulate in sperm DNA with age might underlie this observed association. âIf this paternal age effect has something to do with mutations, then that opens up all sorts of interesting and sort of scary possibilities,â says Jonathan Sebat, a human geneticist at Cold Spring Harbor Laboratory in New York State. He says it is conceivable that the trend of delaying fatherhood might contribute to an increased incidence of mutations in the population that can give rise to neuropsychiatric disorders. In a study of more than 100,000 people, along with records about their parentsâ ages, Avi Reichenberg at Kingâs College London and his colleagues found that 33 out of every 10,000 offspring of men 40 years or older had autism spectrum disorderâa 475% increase compared to offspring of men younger than 30, who fathered afflicted children at a rate of 6 per 10,000 (Arch. Gen. Psychiatry 63, 1026â 1032; 2006). This association is now being tested in a larger study, says Reichenberg. A study this September showed a similar but less pronounced association of parental age with bipolar disorder (Arch. Gen. Psychiatry 65,1034â1040; 2008). Spontaneous mutations can arise in both sperm and eggs. As women age, for example, they have an increased risk of delivering a child with Downâs syndrome and other disorders caused by large-scale chromosome problems in eggs, such as trisomy. But unlike eggs, sperm arise from stem cells that continuously divideâabout 840 times by the time a man is 50 years old (Cytogenet. Genome Res. 111, 213â228; 2005). The theory is that the chances of mutations increase with each round of DNA replicationâa process that could underlie estimates that the mutation rate in males is about five times that in females (Nature 416, 624â626; 2002). âAny mutation you can think of occurs more frequently in the sperm of older men,â says Sebat. Meanwhile, recent genetic surveys of people with autism and other neuropsychiatric disorders have bolstered this controversialâ and still tenuousâhypothesis. The DNA studies have suggested that âspontaneousâ mutations contribute to schizophrenia and autism. This type of mutation can arise in the sperm or egg of the parents.
Sebat and his colleagues, for instance, looked at spontaneous deletions and duplications measuring about 100,000 DNA base pairs and longerâa length that often contain dozens of genesâin the genome of people with of autism spectrum disorders (Science 316, 445â449; 2007).
Such spontaneous mutations occurred in only 1% of unaffected people, but they occurred in about 10% of subjects with sporadic forms of the disorder, meaning they had no family history. The researchers’ methods only pick up a fraction of mutations, so the effect of sporadic mutations is probably substantially larger, says Sebat.
Similar studies this year have shown that people with nonfamilial forms of schizophrenia also have a higher rate of spontaneous duplications and deletions, and Sebat says his unpublished data show a similar association in bipolar disorder. But whether the mutations that arise spontaneously in neuropsychiatric disorders come mainly from mom or dad is still unclear, as is their association with parental age. Sebat says larger studies underway should help clarify these questions. And researchers caution that they have very little idea how the disrupted genes in eggs and sperm might potentially give rise to neuropsychiatric disease. âIt is not established, and it can put a class of individuals in a negative light, says Rita Cantor, a human geneticist at the University of California, Los Angeles. Moreover, other, even more tenuous explanations could underlie the parental age effect – such as the idea that fathers who delay parenthood somehow have genes that affect their social behavior and make their offspring more prone to neuropsychiatric disorders.
Says Cantor, âI think itâs a delicate subject.â Charlotte Schubert, Washington, DC 1170 volume 14 | number 11 | novmeber 2008 nature medicine Male biological clock possibly linked to autism, other disorders New techniques preserve fertility hope for women For a man battling cancer, preserving the option to have children later in life is simple: store samples of semen. Even a single ejaculate contains millions of sperm that can later be used to fertilize an egg. A woman facing cancer, on the other hand, has far fewer choices, which depend on her age, how much time she has before treatment must begin and the availability of a partner who can provide sperm. Oocytes, or eggs, are particularly vulnerable to chemotherapy and radiation, leaving many women infertile after being treated for cancer. The most successful option for a woman of child-bearing age is to create embryos through in vitro fertilization and freeze them. (Even if the womanâs ovaries are removed, her uterus can still carry a transplanted embryo to term.) Doctors have turned to this method for over two decades, with a success rate of up to 40%. âThatâs a procedure that doesnât need improvement,â says Kutluk Oktay, director of reproductive medicine and infertility at New York Medical College. Women who donât have a partner can try to freeze unfertilized eggs. But, unlike hardy embryos, eggs are sensitive to chilling. Hundreds of babies have been born with this technique, but the success rate overall hovers around 3%.
above text from https://dokumen.tips/documents/male-biological-clock-possibly-linked-to-autism-other-disorders.html
Strong Association of De Novo Copy Number Mutations with Autism
Authors: Jonathan Sebat, B. Lakshmi… and Michael Wigler
Science 15 Mar 2007: DOI: 10.1126/science.1138659
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping.
Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
Authors: Dan Levy, Michael Ronemus, … and Michael Wigler
Neuron 70, 886–897, June 9, 2011
To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a single affected child and at least one unaffected sibling. We confirm a major contribution from de novo deletions and duplications but also find evidence of a role for inherited ‘‘ultrarare’’ duplications. Our results show that, relative to males, females have greater resistance to autism from genetic causes, which raises the question of the fate of female carriers. By analysis of the proportion and number of recurrent loci, we set a lower bound for distinct target loci at several hundred. We find many new candidate regions, adding substantially to the list of potential gene targets, and confirm several loci previously observed. The functions of the genes in the regions of de novo variation point to a great diversity of genetic causes but also suggest functional convergence.
Autism spectrum disorder: Genetics Home Reference
Many of the genes associated with ASD are involved in the development of the brain. The proteins produced from these genes affect multiple aspects of brain development, including production, growth, and organization of nerve cells (neurons). Some affect the number of neurons that are produced, while others are involved in the development or function of the connections between neurons (synapses) where cell-to-cell communication takes place, or of the cell projections (dendrites) that carry signals received at the synapses to the body of the neuron. Many affect development by controlling (regulating) the activity of other genes or proteins.
The specific ways that changes in these and other genes relate to the development of ASD are unknown. However, studies indicate that during brain development, some people with ASD have more neurons than normal and overgrowth in parts of the outer surface of the brain (the cortex). In addition, there are often patchy areas where the normal structure of the layers of the cortex is disturbed. Normally the cortex has six layers, which are established during development before birth, and each layer has specialized neurons and different patterns of neural connection. The neuron and brain abnormalities occur in the frontal and temporal lobes of the cortex, which are involved in emotions, social behavior, and language. These abnormalities are thought to underlie the differences in socialization, communication, and cognitive functioning characteristic of ASD.
This website is educational. Materials within it are being used in accord with the Fair Use doctrine, as defined by United States law. §107. Limitations on Exclusive Rights: Fair Use
Notwithstanding the provisions of section 106, the fair use of a copyrighted work, including such use by reproduction in copies or phone records or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is not an infringement of copyright. In determining whether the use made of a work in any particular case is a fair use, the factors to be considered shall include: the purpose and character of the use, including whether such use is of a commercial nature or is for nonprofit educational purposes; the nature of the copyrighted work; the amount and substantiality of the portion used in relation to the copyrighted work as a whole; and
the effect of the use upon the potential market for or value of the copyrighted work. (added pub. l 94-553, Title I, 101, Oct 19, 1976, 90 Stat 2546)
See our article on issues relating to Asperger syndrome and Autism
from CBS News, Feb 11, 2018
We like to think that good work is always rewarded. But what if some people who could do good work can’t their foot in the door in the first place? That’s where recent hiring initiatives that look beyond unfair stereotypes come in, as Lee Cowan reports in our Cover Story:
Twenty-seven-year-old Christopher Pauley thought he had it all figured out when it came to looking for a job.
He had a detailed spreadsheet of each and every position he applied for — at least 600.
But despite his degree in computer science from California Polytechnic State University, he went two years with barely a nibble.
Did he get discouraged? “Oh my gosh, my morale really started to drop towards the end,” he said. “In fact, there were days where I would either hardly fill out any applications at all, or just simply not apply on anything.”
He knew he had the smarts for most jobs; he was a former Spelling Bee Champ, after all. But Pauley struggles with social and communications skills because he’s also autistic.
While precise numbers are hard to come by, by some estimates at least 80% of adults with autism are unemployed, even though their IQs are often well above average.
Sometimes their job skills can present themselves in unique ways. For Christopher, it’s video games. His ability to recognize patterns and his acute attention to detail — both hallmarks of autism — make his playing the video game Rock Band look pretty easy. And they are the same skills he was hoping would impress prospective employers in the computer programming world. But he always had to get past that interview, which was a challenge at best.
Cowan asked, “Was there, in any of those interviews, a time where you just wanted to tell somebody, ‘Look, I know my social skills maybe aren’t quite what you expect, but I know I can do this job, and I know I can do a really good job if you give me a chance’?”
“But you never said that to anybody?”
“Most of the time, no,” he replied.
“I just wasn’t comfortable. It makes me come across as desperate.”
At Microsoft, however, there was no need to hide his autism; they were looking for it.
“It’s a talent pool that really hasn’t been tapped,” said Jenny Lay-Flurrie, the chief accessibility officer at tech giant Microsoft outside Seattle. “There really is, and was, a lot of data on the table that said to us that we were missing out. We were missing out on an opportunity to bring talent in with autism.”
Cowan said, “So in a way, it sounds like this was almost a business imperative.”
“Heck, yeah!” she laughed. “People with disabilities are a strength and a force of nature in this company, myself included.”
Lay-Flurrie, who is profoundly deaf, communicates by reading lips and working with an interpreter. She helped create a hiring program for Microsoft back in 2015 designed to better identify candidates with autistic talents.
Instead of the traditional job interview focusing so heavily on social skills, the company has replaced it with a vetting process that lasts for weeks, and team building exercises like one called the Marshmallow Challenge.
“Being able to watch a candidate in that environment as opposed to sitting across the table interviewing them makes all the difference in the world,” said Cowan.
“Every difference,” said Lay-Flurrie. “Every day, in any company, in any role, you’re going to be asked to work with someone else to figure out a problem or a challenge, or a project.”
“And yet in that scenario, they’re not as self-conscious that they’re being observed for a job — they’re just doing a task.”
After Christopher Pauley went through a similar, unconventional interview process back in 2016, Microsoft quickly hired him as a software engineer. His manager Brent Truell says he was immediately impressed by Christopher’s “out of the box” thinking.
“When we are faced with really complicated problems, the solutions to those aren’t always simple,” said Truell. “And Christopher always kind of brings new insights. And having that creative mind, he always brings something new to the team, which is really exciting.”
“Which is exactly why you hired him, right?
It’s an idea that’s catching on.
Last April, 50 big-name companies — including JP Morgan, Ford and Ernst & Young — came together for a summit on how to bring more autistic adults into the workforce.
It was hosted at the Silicon Valley campus of German software maker SAP, which was one of the first large companies to reach out to the autistic community.
It started its Autism at Work Program almost five years ago, and since then it’s hired 128 people on the spectrum, with the goal of hiring more than 600.
“I have been in this industry for close to 30 years, and I can tell you it’s probably the single most rewarding program that I have been involved with,” said Jose Velasco, who heads the program.
The biggest surprise for him, he says, has been the variety of candidates applying. “Very quickly we started getting resumes from people that had degrees in history, and literature in graphic design, attorneys … the whole gamut of jobs,” Velasco said.
“So really, you went into this thinking that people with autism would be good at certain jobs, and what you ended up discovering is they’re good at all jobs?” asked Cowan.
“They are good at just about every role.”
And they’re expected to perform in those roles, just like anyone else.
Mike Seborowski, for example, was hired three years ago and works in cybersecurity in SAP’s office outside of Philadelphia. When Cowan was visiting, Jose was helping Mike get ready for a long stint at the company world headquarters in Germany. “If you would had told me six years ago that we would have an employee who was openly autistic in the company, going on a business trip to Germany for a month, I would have not believed you,” said Velasco.
Almost everyone has been a surprise, he says. He points to 26-year-old Gloria Mendoza.
She told Cowan, “You should see some of the videos I had when I was a child. I was not very socially skilled with the other kids. Not showing interest with other people, displaying some of the challenging behaviors that a child on the autism spectrum would have.”
Her parents, Rosaura and Enrique Mendoza, helped get Gloria years of speech and occupational therapies, as well as access to top doctors. “When she was very young, I used to worry so much because I never thought she will overcome all what she has done,” said Rosaura. “So, it was like a very dark cloud.”
Gloria made huge strides in her childhood, but her parents were still concerned about how autism might affect her future.
“We worry about her adult life — well, first of all, could she make it through high school?” said Enrique. “Then, once she does that, you know, can she make it through college? Can she be independent?”
She made it through both high school and college; in fact, she got two degrees from Gettysburg College in Pennsylvania — one in music (she has a beautiful singing voice), and another in computer science. And yet, a year after graduating — and hundreds of resumes later — she still couldn’t find a job … until she applied to SAP.
“Probably the best part about working here is that I can use the skills which I have studied whilst being among people that understand who I am and how I’m different from everybody else,” she said.
SAP put Mendoza through five weeks of training, which included working on her social skills.
She’s now in something called Digital Business Services, where she deals directly with customers.
Cowan asked, “What’s the one dream you really want to come true?”
“Probably that I can be really up there in my department, earning a lot of money, and still keeping the friends that I have,” she replied.
Her new friends are mostly co-workers in the autism program, and they try to get together regularly. Cowan watched as Mendoza and her friends participated in Game Night.
“And that, CBS, is how you play Smash Brothers!” said Gloria.
She told Cowan, “I never really had that many friends when I was younger, and having this wide variety of friends that understands me really makes all the difference for me.”
How so? “‘Cause I can express myself in ways that people won’t look at me weird. And it turns out that a lot of people have common interests as I do.”
SAP boasts a retention rate of about 90% for their autistic employees. Part of that may be due to the fact they’re not just set adrift in the workplace all alone. Each participant in the program is assigned a mentor from within the company — like an on-site guardian angel.
Gabby Robertson-Cawley, who has a cousin on the spectrum, volunteered to work with Gloria. “I think it’s just the rewards of getting to be friends with these colleagues who have autism — it’s not something you get in your typical corporate day-to-day experience,” Robertson-Cawley said.
Microsoft also has mentors. Melanie Carmosino, who works with Christopher Pauley, has a personal connection as well; she has a son who’s autistic.
Cowan asked, “What have you taken away from this whole experience, personally?”
“Hope,” Carmosino replied. “I think that this program gives hope to the autism community. It gives hope to parents like me, and it gives hope to people like my son that a company can, and will, look past their differences and see their gifts and let them contribute to society just like everybody else.”
Christopher Pauley is now independent, living on his own in a high-rise apartment, something he’s always wanted.
Cowan said, “I don’t want to ask how much you’re making, but you’re doing pretty good, it sounds like, yeah?”
“Yes,” he said.
“Could you ever imagine you’d be making this much money?”
“No, I never did! Honestly I would have been perfectly happy with, like, half the money I’m making now.”
He bought a car and drives himself to work — and for the first time, he says, looks forward to arriving at a place where he’s accepted for who he is.
He knows there are still challenges ahead, but given a chance to prove his worth, says Christopher, has given him an optimism he never had.
Cowan asked, “If other kids, or young adults, or adults with autism are watching this, what’s your message to them?”
“Don’t give up, and make sure to always aim high,” he replied. “Don’t aim in the middle You know, shoot for the stars every time, ’cause you never know what might happen.”
See our article on issues relating to Asperger syndrome and Autism
02:58 PM ET
Geekiness and autism: Is there a connection?
Laura Nagle loves physics. She peruses scientific papers for her own enjoyment, and she can sometimes work out the answers to cosmological mysteries in her head when she watches documentaries about the universe. She has read, in her estimation, about 12,000 books.
You might say Nagle, 58, is a geek. But if you knew that she also has had severe problems communicating with others throughout her life, and had trouble in school because she’s not “well-rounded,” you might guess that she also has autism.
“I find that physics, engineering – these things speak to my heart, and I see details, relationships and patterns that most people don’t,” says Nagle, who lives near Flagstaff, Arizona.
Nagle’s experience speaks to a pervasive stereotype in popular culture that people with high-functioning autism – a form of which is called Asperger’s syndrome – are geeks.
As with most generalizations, it excludes a vast swath of people on the autism spectrum who don’t fit it – plenty have interests or talents in the arts or literature, and don’t care at all about traditionally geeky pursuits such as computers, science and technology.
But it’s worth looking at why this image of the geek with autism has emerged, and exploring the realities of how autism and talent intertwine. Understanding the condition better is ever more important as the number of people with autism rises. The main signs and symptoms of the condition are communication problems, poor social interactions and repetitive behaviors.
Just last month, the Centers for Disease Control and Prevention announced that an estimated one in 88 children in the United States have an autism spectrum disorder. A person who has high-functioning autism and did not have a childhood delay in cognitive or language development would get a diagnosis of Asperger’s syndrome, although this distinction is likely to disappear in the next edition of the Diagnostic and Statistical Manual of Mental Disorders, the standard classification of mental disorders used by mental health professionals in the United States.
While more and more American children are found to have an autism spectrum disorder, speculation has abounded about brilliant historical figures and fictional characters having it, too.
Albert Einstein and Isaac Newton, both fundamental in shaping the way we understand the universe, had characteristics of Asperger’s, researchers have postulated.
Then there’s TV – take Sheldon Cooper, a character from “The Big Bang Theory.” (Although the show’s writers have said that the character does not have Asperger’s syndrome, actor Jim Parsons told Variety that he views his role as in line with the condition.) And people with Asperger’s have connected with the quirky behaviors of Dr. House from “House, M.D.” and Temperance “Bones” Brennan of “Bones,” although these characters have not received formal diagnoses. (For that matter, another doctor on “House, M.D.” once concluded that House is simply a jerk.)
All of these characters seem obsessed with scientific inquiry, but they struggle with effective communication or maintaining relationships. (Not to mention Abed from “Community” – he’s got an encyclopedic knowledge of science fiction, but asked in a recent episode, “Is this a social cue?”)
“[Viewers] could look at any of these characters who are ostensibly Aspies, and they could think that we have no passion because sometimes our language doesn’t seem to convey deep emotions, and we are doing things that most people do not seem to find inspiring of passion,” Nagle said.
And Nagle doesn’t mind that the public associates genius characters with autism – to her, they represent an idea she’s passionate about: That there’s room in this world for everyone, regardless of their quirks and social deficits.
“You get this idea that even if Sheldon is not a party guy, even if Sheldon is not the guy you’d want to have trying to repair your car, that maybe it’s important to have a theoretical physicist or two,” she said.
Others say the stereotype of the Asperger’s scientific genius is unfortunate; that it overshadows the fact that many people with high-functioning autism have talents in arts and literature instead, says Teresa Bolick, a licensed psychologist who specializes in neurodevelopmental disorders. And some are not geniuses per se, they are simply fixated on specific interests.
In other words, not all smart people have Asperger’s, and not all people with Asperger’s have great talents. The diagnosis requires that the person have some kind of social impairment – for instance, lack of eye contact, and not being able to interpret facial expressions, gestures and figurative speech. So a physics genius who gets along well with everyone may well not have autism.
A genetic basis for both scientific talent and autism?
There may still be an underlying connection between scientific talents and autism, however.
More study is needed to back up this theory, but one hypothesis is that geeks and people with autism are linked genetically. British autism expert Simon Baron-Cohen and colleagues published a study in 1997 suggesting that fathers and grandfathers of children with autism were more likely to work in the field of engineering, compared with fathers and grandfathers of neurotypical children.
The researchers are expanding upon their study to see if people who are good at computers and science are generally more likely to have a child with autism.
“One possibility is that the very same genes that give rise to autism, in a less severe combination, might also be giving rise to talent in the general population,” said Baron-Cohen, who is a first cousin of the comedian and actor Sacha.
A larger combination of those genes could give rise to more severe forms of autism, Baron-Cohen speculated. And it could be that people who carry those genes, being similar in personality and interests, have a greater likelihood of marrying each other.
“If you were to get rid of all the autism genetics, there would be no more Silicon Valley,” Temple Grandin, a best-selling author and professor of animal science at Colorado State University, who has autism, said in a TED talk in 2010.
Although these ideas have gained traction, they aren’t based on proven scientific facts; further research is necessary to support these conclusions.
And keep in mind that as awareness grows about autism, doctors have realized that intellectual disability in autism is nowhere near 70%, as was previously thought – it’s only around 30%, Dr. Gary Goldstein, president of the Kennedy Krieger Institute, told CNN.
A darker side of the stereotype
Meanwhile, the false notion that all people with high-functioning autism are talented in the sciences persists culturally – and that may have a detrimental effect on parents.
“Many of us in the autism community, with official diagnoses, are often asked ‘What’s your special science ability?’ says Christopher Scott Wyatt, assistant professor of English at Robert Morris University. “I say, ‘I teach poetry.’ ”
When speaking about autism, Wyatt, who has high-functioning autism, often fields questions from parents of children on the spectrum who wonder when they will see a math or science ability come through. The answer is: Many children don’t have it. The stereotype of the geek with autism has this downside of making parents concerned if their children with the condition don’t excel at science.
“It leads to assumptions of magical abilities,” he said. “They’re expected to have traits they don’t have.”
Gretchen Leary, 26, of Boston, has Asperger’s syndrome and, like Wyatt, her passion is for writing, not the physical sciences. She also has other narrowly focused interests, such as Latin and marine biology. But although she’s not a tech geek per se, her job involves data entry and other repetitive tasks that appeal to her cravings for order and familiarity. See her iReport
Nagle also has particularities about things that are familiar – if you want to kick her out of a room, “paint it lavender,” she says.
So what is the difference between being a geek and having Asperger’s?
Experts are quick to point out that autism is a medical diagnosis, and “geek” is not – of course.
And in order to receive a diagnosis, a person must see a doctor, probably because he or she is suffering in some way. Being a geek is a cultural description, not a medical condition.
People with high-functioning autism may become depressed because they are failing at relationships or jobs, or anxious because of their social interactions. They may have severe difficulties communicating with other people that have led to troubles at home or the workplace. Leary says she’s had many misunderstandings with her spouse and still has more trouble with face-to-face communication than via phone.
Sensitivity to light and noise, another common feature of autism, has also been problematic for Leary. These sensory issues can also interfere with children’s socialization. Crowded, bright places like shopping malls, where young people often hang out, can feel overwhelming and isolate those who don’t want to be there, said Bolick, the psychologist.
Underlying the interests of many people with Asperger’s is a fascination with systems, Baron-Cohen said. Sometimes, that can be advantageous and could help start careers, such as in software engineering or physics. But sometimes, people who have autism fixate on activities that do not have immediate practical applications – for instance, collecting coffee cups.
“Many folks with Asperger’s are able to give remarkable attention to whatever problem they’re interested in,” Bolick said.
Turning a disability around
In some cases, people on the autism spectrum have talents or interests that could become part of a profession, but they’re not thinking in those terms.
“For many people with autism, the reason why they have their obsessions is not because of financial gain. They’re doing it because of intrinsic motivation,” Baron-Cohen said. “The idea that they could make it useful may not even occur to them.”
Wyatt, for example, writes a lot but doesn’t publish. “My wife keeps saying, ‘You should send this to someone,’ but why?” he says.
One man with Asperger’s whom Baron-Cohen met had a desire to understand changes in weather patterns. He’d go out into his garden at midnight every night to measure temperature, wind speed and other related weather factors. He wasn’t trying to use the information like a meteorologist; he just wanted to know.
Similarly, a young patient of Bolick’s would diligently do his homework but not turn it in. When she asked him about it, he stood straight up and said, “I don’t do my homework to get good grades. I do my homework to learn.”
But this problem of not finding practical uses for interests varies widely; some people with autism are markedly driven to achieve, and do. Other times, success is hindered by difficulty in planning and organizing, another common feature of autism spectrum disorders. These are areas that teachers and coaches can help with, Bolick said. Grandin has also spoken out about the need for these mentors to help people with autism develop their talents and use their interests in meaningful ways.
And organizations are starting to take note of certain strengths that a person with high-functioning autism might bring. The nonprofit Aspiritech, based in Highland Park ,Illinois, provides opportunities for people on the Asperger’s spectrum to become software testers, a profession that harnesses their “attention to detail, precision, an affinity for repetitive tasks, outstanding technology skills.”
“This is the kind of disability which could be turned around, so that something that seems to be interfering with the person’s life could transform their life,” Baron-Cohen said. “The obsessions could be a stepping stone or a passport into more opportunities.”
Toward a better future for the next generation
Doug Sparling, 52, of Kansas City, Missouri, chose his job in software engineering because of his Asperger’s. Human interaction, especially when working on a project closely with a partner, can trigger anxiety for him. But he loves electronics, logic and solving problems.
In information technology, he can follow those passions while largely having the solitude he wants. He works more than 40 hours a week, but on a flexible schedule, and works from home a lot.
“Coding is something I get ‘lost’ in, it’s a world where I lose track of time,” he said in an e-mail.
Sparling is married with four children, including a 23-year-old stepson and a 12-year-old son with Asperger’s.
Nagle’s story is different. If she’d had supportive, encouraging teachers, coaches or advocates, Nagle believes, she would have turned her passion for physics into a career, too.
During her second year of college, a counselor told her that her grant would be cut and her work-study hours cut in half. And instead of questioning it or investigating other scholarship opportunities, she quit school and began one of many jobs she didn’t enjoy.
She has worked in architecture and structural engineering, but never finished college. She now lives in a mobile home provided to her. She is heavily involved in autism advocacy and is working on a documentary to be released this year.
When Nagle gives talks about autism, she tells her audience she hopes that none of the young people with autism today end up like herself.
She says: “I don’t want them being 58 years old, homeless [if not for] favors, not able to take care of their teeth, and looking back on lives in which they haven’t accomplished what they could have accomplished.”
See our article on issues relating to Asperger syndrome and Autism
This website is educational. Materials within it are being used in accord with the Fair Use doctrine, as defined by United States law. §107. Limitations on Exclusive Rights: Fair Use
Notwithstanding the provisions of section 106, the fair use of a copyrighted work, including such use by reproduction in copies or phone records or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is not an infringement of copyright. In determining whether the use made of a work in any particular case is a fair use, the factors to be considered shall include: the purpose and character of the use, including whether such use is of a commercial nature or is for nonprofit educational purposes; the nature of the copyrighted work; the amount and substantiality of the portion used in relation to the copyrighted work as a whole; and the effect of the use upon the potential market for or value of the copyrighted work. (added pub. l 94-553, Title I, 101, Oct 19, 1976, 90 Stat 2546)
from A genetic link between autism and prodigy? By Renee Morad
The Daily Dose, Ozy.Com, Mar 15, 2017
Ohio State University psychologist Joanne Ruthsatz, author of The Prodigy’s Cousin, once tested a child prodigy’s IQ. In the middle of her assessment, the child asked for a break at McDonald’s. As they were eating, the child genius’s autistic cousin walked in, and the coincidence made Ruthsatz wonder: What are the chances of having a child prodigy and an autistic child in the same family?
The question motivated her to find some answers. So she went on to study prodigies who reached a professional level before age 10. After examining their DNA, and those of their families, she discovered that half of prodigies had an autistic relative as close as a grandparent or niece. She also found that both the prodigies and their autistic relatives seemed to have evidence of a genetic mutation or mutations on the short arm of chromosome 1 that was not shared by their neurotypical relatives. The two also shared some characteristics.
We caught up with Ruthsatz to talk about how her findings might help answer questions about autism. Our condensed and edited conversation follows.
HOW MIGHT THE LINK BETWEEN PRODIGY AND AUTISM HELP US BETTER UNDERSTAND BOTH TRAITS?
Ruthsatz: Well, if we could find how they are different from their neurotypical relatives, that would lead the way to better medicine for autism. What we’re looking for is a genetic marker that prodigies have that their neurotypical or autistic relatives do not have. More than 50 percent of children who are prodigies have autistic first or second relatives. That’s way too much. It’s a big marker, a big flag. Now we’re working to find out where the difference is, since we know where the similarity is.
WHAT STRENGTHS DID YOU FIND AMONG PRODIGIES WHO EXCEL IN MATH AND SCIENCE?
This group had huge visual-spatial skills. They were able to see visually and report the difference, telling exactly how to get from point A to point B and, miraculously, whether it was northeast, left, right or so on. I didn’t cue them; they just knew. But artistic prodigies were below average on this skill. Some of the artistic prodigies couldn’t have told me left from right.
WHAT DID THE MUSIC GENIUSES EXCEL IN?
The music prodigies had the strongest memories. In fact, all music geniuses had a score above 99 percent on working memory. They had significantly better working memories than the other types of prodigies.
WHEN YOU COMPARED PRODIGIES AND THOSE WITH AUTISM, WHAT SIMILARITIES DID YOU FIND?
They all have an obsession in something, or what we’d call a “rage to master” in prodigies. They both have strong working memories. They all usually come from families that have engineers or scientists or professors. Well, not all of them, but more than you’d expect. Some come from very normal families, some working-class — and many have autistic relatives.
YOU UNCOVERED EVIDENCE THAT PRODIGIES HAVE A VERY EXTREME SENSE OF EMPATHY. CAN YOU EXPLAIN?
One of the prodigies started a charity that raised $8 million for children with neuro diseases. He was so in tune with these patients that he used to play little concerts for them in the hospital, and his efforts got bigger and bigger. He raised a lot of money for research. Another one focused on feeding starving children. They are very sensitive to the human condition. Now, with autistic individuals, there’s this misunderstanding that they don’t care, but I think they care so much that they don’t know what to do with it — they’re super sensitive.
WHAT DO YOU FIND MOST INTERESTING ABOUT CHILD GENIUSES?
They are just so extremely rare, and we’re almost seeing an evolution in genetic research that shows that as the world goes on, the gene pool changes. You can go back to Mozart, and he certainly had an autistic background, but we’re finding that more and more. I think we’re seeing an evolution of extreme talent.
WHAT DO YOU SUSPECT YOUR LATEST RESEARCH MIGHT LEAD TO?
We are hoping to arrive at the prodigy gene that allows all the deficits in autism to be put at bay, letting the talent shine through. We think it’s going to be one or two genes. We don’t think they will be massive genes that are different. We think it’s going to be a moderator that lets prodigies be social and live their lives functionally where autistic savants cannot … and finding that difference might lead to better medicine for people with autism.
See our article on issues relating to Asperger syndrome and Autism
This website is educational. Materials within it are being used in accord with the Fair Use doctrine, as defined by United States law. §107. Limitations on Exclusive Rights: Fair Use
Notwithstanding the provisions of section 106, the fair use of a copyrighted work, including such use by reproduction in copies or phone records or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is not an infringement of copyright. In determining whether the use made of a work in any particular case is a fair use, the factors to be considered shall include:
the purpose and character of the use, including whether such use is of a commercial nature or is for nonprofit educational purposes; the nature of the copyrighted work;
the amount and substantiality of the portion used in relation to the copyrighted work as a whole; and the effect of the use upon the potential market for or value of the copyrighted work. (added pub. l 94-553, Title I, 101, Oct 19, 1976, 90 Stat 2546)
In “The Atlantic” Rose Eveleth writes:
The terms “high-functioning” and “low-functioning” have no medical meaning. Nearly every expert I talked to referenced a common mantra in autism: When you’ve met one person with autism, you’ve met one person with autism. Which sounds nice, but is not particularly helpful when looking for meaning.
“With the spectrum, there’s a wide range, we’re still trying to figure out what that wide range means,” said Stephen Edelson, the director of the Autism Research Institute. “I don’t have a great answer. Scientific understanding of autism certainly continues to evolve,” said Paul Wang, the head of medical research at Autism Speaks. “I think there’s no one continuum necessarily,” says Lisa Gilotty, the autism-spectrum-disorders program chief at the National Institute of Mental Health. “It’s hard because … different people will break that up in very different ways, I’m not sure any of those ways are accurate.”
“It’s almost like if you look in the stars in the sky and say, ‘Oh, there’s Orion’s belt. And oh, there’s the Big Dipper.’ You could also look at the stars and say they cluster a different way. And I think that’s still where we are with autism,” said Jeffrey Broscoe, the director of the population health ethics department at the University of Miami.
And perhaps because the spectrum has no agreed upon poles, there is very little data about how autistic people might be distributed along the spectrum. Different studies measure things like intellectual disability, and verbal ability, and self-injurious behavior in certain populations, but researchers know very little about what the autism population looks like as a whole.
….ike so much of psychiatry, autism is a construct, a conceptual framework that will sooner or later outlive its usefulness. And the spectral characterization of autism might work for now, but it might not work forever.
“Right now the best way to approach autism is to think about it as a spectrum condition, but it’s quite possible that in the next 10 to 15 years, we’ll start understanding these better—not just genetics but the real pathophysiology,” says Broscoe. One day it might be lots of different diagnoses, each pinned to a specific cause or mutation or biological breakdown. Just as people once thought of all cancers as singular, and now think about and treat breast cancer and lung cancer and colon cancer differently. Autism, Broscoe says, “may look more like cancer one day.”
Roy Grinker, an anthropologist whose book, Unstrange Minds: Remapping the World of Autism, combines his personal experiences with an autistic daughter, and academic research into autism, laughed about the idea that autism was a single, “real” thing. “There’s not a real thing out there called autism! There are complex neural pathways that lead to different behaviors and traits that we have decided right now is best understood by a framework called autism. But I have no confidence that in 30 years we’ll still use the word autism.”
* * *
This isn’t to say there aren’t robust research efforts focused on autism. This year, the National Institutes of Health alone spent $189 million dollars on autism research. In 2014, President Obama signed a bill called the Autism CARES Act which promises $1.3 billion in federal funding for autism research over the next five years. In 2014, the organization Autism Speaks spent $21.2 million on autism research.
But most of the funding is for figuring out the causes of the disorder, trying to identify biomarkers and genetic clues, and attempts to understand potential environmental contributors. Very little of it goes to sorting out what the spectrum looks like and how the population is distributed along it.
But even looking at the data that does exist reveals that it’s tough to get a comprehensive look at gradients along the spectrum. For a while, experts might have said that the spectrum went from “high functioning” to “low functioning.” But those terms were never clearly defined. “We just don’t have good ways of measuring functioning-levels overall,” Anne Roux, a researcher at Drexel’s Autism Institute told me in an email. “For example, we know that 60 [percent to] 70 percent of people with autism have co-occurring health and mental-health diagnoses. Yet, there are really no measures that account for the role of co-occurring disorders in how people function.”
And even if you try to pick a more concrete measure, attempts to plot autistic people fall apart pretty quickly. Take the CDC data on intellectual impairment. In their most recent report, released in 2014 but using data from 2010, researchers found that 31 percent of 8-year-old children with autism qualified as intellectually disabled, with IQ scores below 70, and 23 percent qualified as “borderline” with scores between 70 and 85. But in their 2000 report, between 40 percent and 62 percent of children studied were considered intellectually disabled. So, are the majority of autistic people intellectually disabled? Or only one-third?
Part of why this information can be hard to track is due to changes in how autism is diagnosed and classified. The latest edition of the DSM, published in May of 2013, did away with Asperger’s syndrome, a condition often seen as existing just beyond one end of the autistic spectrum. People once diagnosed with Asperger’s have some of the same behaviors as autistic people do—repetitive behaviors, difficulties with social interaction—but often have far fewer problems with verbal language. Now that Asperger’s syndrome is no longer a diagnosis, some of those people fell into an autism diagnosis, and some were simply no longer considered disabled. Wang says that the shifting CDC numbers on intellectual disability reflect diagnosis, not an underlying truth about autism.
See our article on issues relating to Asperger syndrome and Autism