Genetic Overlap Of Autism With Intelligence
Recent increases in sample sizes, extensions of target phenotypes analyzed, and developments in analytic methods for genome-wide association studies, have allowed the first robust tests of the sign and magnitude of genetic correlations, due to pleiotropy and linkage disequilibrium, between intelligence and other traits including risk of psychiatric conditions. Four studies have used data from the Psychiatric Genetics Consortium on polygenic risk for autism to assess overlap of autism risk alleles with alleles for aspects of cognitive ability and intelligence. All four of these studies, which used diverse, independent populations and tests of cognitive abilities, have reported significant, substantial genetically-based positive associations of autism risk with intelligence, notably including full-scale IQ and a PCA-based measure of g , childhood IQ, college attendance, and years of education , cognitive function in childhood and educational attainment , and verbal-numerical reasoning and educational level reached . These studies indicate that polygenic, small-effect size alleles that increased risk of autism are also associated with increased intelligence among neurotypical individuals.
So Why Is It That Someone With Signs Of Aspergers Is Likely To Do Well
What is it about this condition that makes a person so successful? Theres the intelligence side of it, of course, but also, some experts now believe it is the actual lack of social skills that is a contributing factor.
Think about it for a moment. You have an idea that you think will make millions, but in your normal everyday life, you feel constricted by societal rules and unspoken boundaries. You dont want to speak out for fear of ridicule, or people thinking you are over-reaching or narcissistic.
But the person who has Aspergers has none of these boundaries. They dont follow societys rules. They are not even aware of them. As a result, they just go right ahead, pitch their ideas and get on with the job.
Tech investor Peter Thiel believes we could all benefit from a little touch of Aspergers.
We need to ask what is it about our society where those of us who do not suffer from Aspergers are at some massive disadvantage because we will be talked out of our interesting, original, creative ideas before theyre even fully formed.
My final point is that these days, we are all spending more time on our smartphones, our computers, laptops, and in the artificial world. As such, our social interaction is gradually being reduced.
Therefore, being able to connect socially might not be such a big deal in the decades to come anyway. Perhaps its time for those with signs of Aspergers to shine.
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Teachers: External And Internal Conflicts Religious Worldviews And Misconceptions
Some pre-service teachers plan to incorporate nonscientific views in the classroom and suggest that students be taught âmultiple sidesâ of an understanding of evolution . Ha et al. articulate a construct called âfeeling of certaintyâ related to intuitive cognition that predicts some of Korean pre-service biology teachersâ acceptance of evolution. In a study of Canadian elementary school pre-service teachers, almost a third had reservations about teaching evolution or planned to avoid it entirely, even though the province where the study was conducted mandates the teaching of evolution as part of the elementary science curriculum and the teachers had recently completed a course in which evolution was addressed . Still, generally as pre-service teachers move though their teacher education programs, their acceptance and knowledge of evolution increases and their misconceptions about evolution decrease . In summary, it is clear that pre-service teachersâ acceptance or rejection of evolution will strongly impact the duration and depth of coverage of evolution , how comfortable they are teaching it, and whether they include nonscientific ideas once they are in the classroom .
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Bronze Age To Medieval Era
Resistance to malaria is a well-known example of recent human evolution. This disease attacks humans early in life. Thus humans who are resistant enjoy a higher chance of surviving and reproducing. While humans have evolved multiple defenses against malaria, sickle cell anemiaa condition in which red blood cells are deformed into sickle shapes, thereby restricting blood flowis perhaps the best known. Sickle cell anemia makes it more difficult for the malarial parasite to infect red blood cells. This mechanism of defense against malaria emerged independently in Africa and in Pakistan and India. Within 4,000 years it has spread to 10-15% of the populations of these places. Another mutation that enabled humans to resist malaria that is strongly favored by natural selection and has spread rapidly in Africa is the inability to synthesize the enzyme glucose-6-phosphate dehydrogenase, or G6PD.
Early Modern Period To Present
A study published in 2021 states that the populations of the Cape Verde islands off the coast of West Africa have speedily evolved resistance to malaria within roughly the last 20 generations, since the start of human habitation there. As expected, the residents of the Island of Santiago, where malaria is most prevalent, show the highest prevalence of resistance. This is one of the most rapid case of change to the human genome measured.
Geneticist Steve Jones told the BBC that during the sixteenth century, only a third of English babies survived till the age of 21, compared to 99% in the twenty-first century. Medical advances, especially those made in the twentieth century, made this change possible. Yet while people from the developed world today are living longer and healthier lives, many are choosing to have just a few or no children at all, meaning evolutionary forces continue to act on the human gene pool, just in a different way.
A 2012 study led by Augustin Kong suggests that the number of de novo mutations increases by about two per year of delayed reproduction by the father and that the total number of paternal mutations doubles every 16.5 years.
Recent research suggests that menopause is evolving to occur later. Other reported trends appear to include lengthening of the human reproductive period and reduction in cholesterol levels, blood glucose and blood pressure in some populations.
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Comparing Different Classes Of Human Evolved Elements
We next analyzed another major type of regulatory element predicted to play a role in human brain evolution the class of human gained enhancers and human lost enhancers genomic regions that exhibit increased and decreased enhancer activity, respectively, as assessed through changes in active epigenetic marks on the human lineage ,. HARs and HGEs are not only distinct in the way they were defined, but they are also located in different regions of the genome. Only 7 overlapping regions were detected for HARs and HGEs identified in fetal brain and five such regions for HARs and HGEs identified in adult brain . Enhancers typically exhibit a tightly regulated temporal window of activity, and consistent with this, HGEs are subject to dynamic regulation across development. For example, only 35 regions overlapped between HGEsFB and HGEsAB. As HLEs are defined by loss of enhancer marks on the human lineage, they are distinct from HGEs .
Fig. 2
Brain Size And Growth
Large brain size and head circumference, especially in childhood but also adulthood, represent some of the best-substantiated phenotypic correlates of autism . Autism-linked increases in brain size have been shown to involve higher numbers of neurons , a thicker cortex , increased hippocampus volume , increased brain growth rates in early childhood , increased rate of cortical thinning in adolescence , a combination of accelerated expansion in early childhood with accelerated thinning in in later childhood and adolescence , and increased processing of more-local, detailed information .
Faster increase in cortical thickness between ages 6 and 12, followed by faster cortical thickness deceleration between ages 12 and 18 , has been linked with higher intelligence in typically-developing children . These findings provide evidence that trajectories of brain growth rate during middle childhood to adolescence are notably associated with IQ, with an overall pattern of accelerated growth and accelerated pruning that matches trajectories reported in autism, though with different timings of growth in early childhood. Within humans , and among non-human primates species, brain size are also positively correlated with measures of intelligence, an effect that appears to be mediated predominantly by numbers of neurons .
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Hars Potentially Regulate Human Brain Development
Although this analysis identified the tissue and stage where HARs are predicted to be the most active, it did not identify which genes are regulated by these elements. So, we next integrated these data with a recently defined three-dimensional chromatin interaction map in developing human cortex, which identified physical enhancer-promotor/gene interactions. We were able to assign 638 and 717 HARs to 972 and 1021 genes using contacts defined by three-dimensional chromatin conformation in cortical plate and germinal zone in the fetal brain, respectively . When combined with intragenic HARs, we were able to assign 1028 HARs to 1648 putative target genes . Only 26.3% of these physically interacting genes were the genes nearest to a HAR , which indicates how risky it is to perfunctorily assign regulatory elements to the nearest gene without other evidence. This is also consistent with emerging evidence that chromatin interactions often link genes to quite distal regulatory elements,, and are not related to linear distance or genetic recombination, as defined by linkage disequilibrium.
Trust In Science And Scientists
Perhaps some of the lack of acceptance of evolution stems from a mistrust of science in general. Many prominent science and news publications, including National Geographic8 have proposed that we are now living in an age of science denial, although this is not necessarily a recent phenomenon. Diethelm and McKee define science denialism as âthe employment of rhetorical arguments to give the appearance of legitimate debate where there is none, an approach that has the ultimate goal of rejecting a proposition on which a scientific consensus exists.â In general, they outline science denial tactics as including employing conspiracy theories, using fake experts , cherry picking âevidenceâ by selectively focusing on isolated articles that challenge broader scientific consensus , creating impossible expectations of what research can demonstrate, and using logical fallacies and misrepresentation. With regard to evolution specifically, three main âpillarsâ of contemporary anti-evolution efforts include casting doubt on some aspect of evolution or discrediting it as controversial, demanding âequal timeâ for nonscientific alternatives in the name of âfairness,â and emphasizing the incompatibility of science and religion .
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Neolithic Or New Stone Age
In 2006, population geneticist Jonathan Pritchard and his colleagues studied the populations of Africa, East Asia, and Europe and identified some 700 regions of the human genome as having been shaped by natural selection between 15,000 and 5,000 years ago. These genes affect the senses of smell and taste, skin color, digestion, bone structure, and brain function. According to Spencer Wells, director of the Genographic Project of the National Geographic Society, such a study helps anthropologists explain in detail why peoples from different parts of the globe can be so strikingly different in appearance even though most of their DNA is identical.
Hawks and colleagues scanned data from the International HapMap Project of Africans, Asians, and Europeans for SNPs and found evidence of evolution speeding up in 1800 genes, or 7% of the human genome. They also discovered that human populations in Africa, Asia, and Europe were evolving along divergent paths, becoming ever more different, and that there was very little gene flow among them. Most of the new traits are unique to their continent of origin.
Examples for adaptations related to agriculture and animal domestication include East Asian types of ADH1B associated with rice domestication, and lactase persistence.
Identification Of The Putative Target Genes Of Hges And Hles
HGEsAB and HLEs were defined as genomic regions that underwent regulatory changes between human and chimpanzee in adult brain, whereas HGEsFB were defined as genomic regions that underwent regulatory changes between human and rhesus macaque in developing cortex. To assign HGEsFB to their target genes, we used previously identified target genes of HGEsFB with a slight modification. We first categorized HGEsFB into ones located in promoters and ones that are not. Promoter HGEsFB were directly assigned to their target genes based on their genomic coordinates, while non-promoter HGEsFB were assigned to their target genes based on chromatin interaction profiles in fetal brain. We only used non-promoter HGEsAB and HLEs for target gene assignment. To assign HGEsAB and HLEs to their target genes, we first converted genomic coordinates of HGEsAB and HLEs from hg38 to hg19 using liftOver . HGEsAB and HLEs were then assigned to their target genes using newly generated chromatin interaction profiles in the adult PFC. As HGEs and HLEs were respectively defined by gain and loss of H3K27ac marks, we only used promoter-based interactions.
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Obstacles To Accepting And Understanding Evolution
There is a diverse array of cognitive, affective, pedagogical, epistemological, political, social, and religious factors that contribute to an anti-evolutionary worldview . Although often conflated , some studies have found a correlation between understanding or knowledge of evolution and its acceptance , yet others have not . It is possible for someone to understand evolution, but not accept that it is true . Conversely, it is also possible for someone to accept that evolution is true without understanding the fundamental concepts of evolution . It is clear that there is a complex relationship between accepting evolution and understanding it and that neither is a necessary condition or prerequisite of the other . Still, research generally supports a positive correlation between understanding and acceptance of evolution, though the direction of causation is unclear . It is likely that at least in some cases, acceptance follows understandingâwhen people do not hold nonscientific beliefs about evolution .
Autism As The Result Of A Reptile Brain
A different perspective on the evolution of autism is provided by the Polyvagal theory . Polyvagal theory postulates that through three stages of phylogeny, mammals, especially primates, including humans, have evolved a functional neural organization that regulates emotions and social behavior. The vagus, i.e., the 10th cranial nerve is a major component of the autonomic nervous system that plays an important role in regulating emotions and social behavior. The three stages of phylogeny reflect the emergence of three distinct parts of the autonomic nervous system, each with a different behavioral function. In the first evolutionary stage, the unmyelinated vagus emerged, which regulates immobilization for death feigning and passive avoidance. These are typical responses to dangerous situations in reptiles, but atypical in mammals, including humans. In the second stage, the sympathic- adrenal system emerged, which is characterized by mobilization as a response to dangerous situations. In the third stage, the myelinated vagus emerged, which is involved in social communication, self-soothing and calming. It is proposed that people with autism minimize the expression of the mammalian response, i.e., social communication. Rather, they rely on the defensive strategies that include both mobilization and immobilization.
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Developmental And Cellular Expression Profiles
The spatiotemporal transcriptomic atlas data from human brain was obtained from Kang et al. As this dataset contains expression values from multiple brain regions, we selected transcriptomic profiles of cerebral cortex with developmental epochs that span prenatal and postnatal periods. Expression values were log-transformed and centered to the mean expression level for each sample using a scale+1 function in R. Genes associated with human evolved elements were selected for each sample and their average centered expression values were calculated and plotted.
Cell-type specific expression profiles in the adult PFC and developing neocortex were obtained from Darmanis et al. and Nowakowski et al., respectively. We processed single-cell expression values by centering to the mean expression level for each cell using a scale function in R. This results in centered expression values denoting each genes relative expression level in a given cell, referred as cell-level centered expression values. We then calculated average cell-level centered expression values of genes mapped to each class of human-evolved elements.
Famous People Who Show Signs Of Aspergers Syndrome
Thomas Jefferson
Founding Father and third president of the United States, Jefferson was a shy man that mumbled and walked around with a mocking bird on his shoulder. However, he did write the Declaration of Independence in one go.
Wolfgang Amadeus Mozart
Mozart wrote his first symphony at the age of five and went onto write over 600 pieces. Reports of the time state that he was woefully impaired when it came to social interaction. He also had trouble expressing his emotions to others.
Michelangelo
Michelangelos incredible concentration makes him a candidate for Aspergers syndrome. Not only was he obsessive over his work, but he was also completely unable to show emotion. His extraordinary memory allowed him to retain sketches for the Sistine Chapel.
Michelangelo was aloof and a loner. Like the architect John Nash , who also had high-functioning autism, he had few friends. Dr Arshad and Prof Fitzgerald
Albert Einstein
What sort of brain do you need to work out the theory of relativity? Einstein is considered to be one of the greatest scientists of all time, but he did show signs of Aspergers.
He had trouble recognising social cues but was able to narrowly focus his attention to solve one of our greatest scientific mysteries.
Charles Darwin
Darwins fascination with insects, shells and categorizing indicates he had Aspergers. The man responsible for changing the way we view evolution was prone to bouts of solitude and obsessed with nature.
Sir Isaac Newton
Woody Allen
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Gene Enrichment Analysis And Cell
Gene ontology enrichment was performed by GO-Elite Pathway Analysis . Genes that reside within 1Mb flanking regions from each human evolved element were used as a background gene list.
Gene lists for disease enrichment analysis were curated from several sources: genes that harbor de novo loss-of-function variation in ASD were obtained from Iossifov et al. and de Rubeis et al. genes that harbor de novo LoF variation in schizophrenia and developmental delay were obtained from Fromer et al. and the Deciphering Developmental Disorders Study, respectively constrained genes associated with ASD, schizophrenia, and DD were obtained from Kosmicki et al. pathogenic missense variants for ASD and DD were obtained from Samocha et al. and genes intolerant for LoF variation were obtained from The Exome Aggregation Consortium . Genes that reside within copy number variants in schizophrenia were obtained from Marshall et al. Human-specific genes were obtained from Bakken et al. , Sousa et al. , and Brawand et al. .
To calculate enrichment statistics, we used logistic regression in R:
glm.out< – glm
P.value< – summary$coefficients
We built two vectors of 0 or 1 with a length of background gene lists. A vector evol.list denotes for human-evolved element associated genes, while gene.list is a vector for a curated gene list .