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The Hominidae Family

I read a book recently called Sapiens: A Brief History of Humankind – buy it immediately – and it changed. my. life. It made the world make a little bit of sense.

Yuval Noah Harari explains  how biology sets our limits and how culture shapes what happens within those bounds. He narrates humankind from the creation of the Homo genos to the ultimate dominance of the Sapiens species.

What is especially interesting is that we are a species of the genus Homo, which is the  genus of the family Hominidae (order Primates). Our characteristics include: large cranial capacity, limb structure adapted to a habitual erect posture and a bipedal gait, well-developed and fully opposable thumbs, hands capable of power and precision grips, and the ability to make standardized precision tools, using one tool to make another. For example, the biological family Felidae is a lineage of carnivorans colloquially referred to as cats. The species included in this family are panthers, cats, tigers etc.

So!

Sapiens (us) are a species of Hominidae together with the (allegendly) extinct species H. habilis, H. erectus, and H. heidelbergensis as well as the Neanderthals (H. neanderthalensis), the early form of Homo sapiens called Cro-Magnon, and the enigmatic H. naledi, which may be the oldest known member of the genus.

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In fact, Sapiens and Neanderthals, H. erectus etc are likely to have existed in the world at the same time. We evolved at the same time as them. Neanderthal anatomy differed from modern humans in that they had a more robust build and distinctive morphological features including shorter limb proportions, a wider, barrel-shaped rib cage, a reduced chin, sloping forehead, and a large nose.

In 2010  a study was published which determined that Neanderthal DNA is 99.7 percent identical to modern human DNA and researchers of the Neanderthal Genome Project found that 2.5 percent of an average non-African human’s genome is made up of Neanderthal DNA. Which means that at some point, our species interbred and that Caucasians are more likely to have Neanderthal DNA.

From this study and further genotyping undertaken, Dannemann and Kelso published  “The contribution of Neanderthals to phenotypic variation in modern humans,” Am J Hum Genet, 101:1-12, 2017. They narrowed the sample to include 112,338 individuals with white European ancestry (whose genomes contain Neanderthal DNA), and used these data to tease out which traits are influenced by Neanderthal genetic variants. The traits they identified included those that affect hair color, skin color, skin tanning and burning, sleeping patterns, mood, and tobacco use. For example, being a self-described night owl and being prone to daytime napping were both traits positively influenced by Neanderthal variants, as were loneliness, low mood, and smoking. Genetic loci associated with having red hair were found to be devoid of Neanderthal variants, suggesting red-headed Neanderthals were either rare or non-existent. The new study also supports Capra and colleagues’ previous observations that Neanderthal variants are associated with sun-induced skin lesions, mood disorders, and smoking.”

Next time you’re tempted to call someone a Neanderthal, you might want to take a look in the mirror.

What’s the point of this? Basically that we know nothing about who we are, what makes us. The only reason Sapiens went on to dominate the world was because of their unprecedented congnitive ability to imagine, and to believe in their imagination. They went on to imagine new ways to hunt, gather, cook. They imagined states, countries, borders. They imagined religion, human rights, corporations and money.

For millenia, our ancestors imagined things that control our lives, that give us the ability to research, understand and explain where we came from. Their imagination created the world you live in today.

And yet at the cognitive peak of our species, our generations are unable to create a world where we are all accepted because we can’t imagine people with disabilities living up to the culture and demands our society has conjured up.

At the core, we are simply a family that has different traits. If this is fact – why is it so hard to imagine?

In other science news:

Remember when we talked about the gut? Well, you may remember that the gut has always been under observation in autism study.

The Biology of Autism: Where Marilyn Le Breton explained that “When you eat, the food you consume is broken down in your stomach. The bits that are not used by the body are flushed out as waste matter. In autistic people, the breakdown of two proteins present in some foods, gluten and casein, is not completed properly. The resulting fragments of these proteins are called peptides. Peptides are small enough to pass through the wall of the gut, rather than being processed in the normal way. As the peptides journey around the body, they make a pit stop at the brain, where they do untold damage before continuing their journey and finally making their way out of the body, via urine. Both are very similar to morphine, a highly addictive drug.”

Hope in Poo? In 2017, a study was published in the Microbiome Journal (here) which claims that Microbiota Transfer Therapy (Fecal microbiota transplant (FMT), also known as a stool transplant, is the process of transplantation of fecal bacteria from a healthy individual into a recipient) alters gut ecosystem and improves gastrointestinal and autism symptoms.

Building on the research above, new findings now have reinforced the theory that some autism symptoms – including behavioral symptoms – can be manipulated with FMT. In fact, the results appear to be long-lasting, continuing to have an effect even years after the fecal transplant.

The researchers presented a follow-up to this study at the Beneficial Microbes Conference this month. According to the reports, the scores on a gastrointestinal-symptom scale remained over 60% better before the transplants through maintaining beneficial bacteria gained from the transplant.

This breakthrough could be groundbreaking for the autism community. If we can understand the causes/origins of autism we can work towards mitigating effects and implementing precautionary tests. This isn’t a cure but it’s hope.

Happy summer my humans!

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The Biology of Autism

  1. The gut.

You may recall me talking about a ground-breaking new study in January (Hope in Poo) where alterations in the gut ecosystem were linked to autism traits. These scientists used Microbiota Transfer Therapy (Fecal microbiota transplant (FMT), also known as a stool transplant, is the process of transplantation of fecal bacteria from a healthy individual into a recipient) which was tested and proven to improve gastrointestinal and autism symptoms.

The gut has always been under observation in autism study. That’s why a gluten-free and casein-free diet is an alternative treatment. In “Best Food Critic in Town” I mentioned: Marilyn Le Breton, who explains:

“When you eat, the food you consume is broken down in your stomach. The bits that are not used by the body are flushed out as waste matter. In autistic people, the breakdown of two proteins present in some foods, gluten and casein, is not completed properly. The resulting fragments of these proteins are called peptides. Peptides are small enough to pass through the wall of the gut, rather than being processed in the normal way. As the peptides journey around the body, they make a pit stop at the brain, where they do untold damage before continuing their journey and finally making their way out of the body, via urine. Both are very similar to morphine, a highly addictive drug.”

2. Stem cells

In “Dog Treats, Ice Cube and Rutgers University for Autism” I mentioned stem cells research, a first-of-its-kind study at Duke University in Durham, North Carolina. The study assessed whether a transfusion of the children’s own umbilical cord blood containing rare stem cells could help treat their autism.
Dr. Joanne Kurtzberg, who heads the Robertson Clinical and Translational Cell Therapy Program, teamed up with Dr. Geraldine Dawson, director of the Duke Center for Autism and Brain Development began a trial over two years ago. During this time 70% of the 25 children, age 2 to 6, were found to have behavioral improvements by their parents and tracked by the Duke researchers. The children traveled to Duke three times over the course of a year. They underwent a series of evaluations such as autism assessments, MRIs and EEGs to track their brain activity. On the first trip, the children received the cord blood infusion along with the intense evaluations. Each child received 1 billion to 2 billion cells, given through an IV in their arms or legs. At six months and then a year later, the children returned for more tests and observations.

Both Dr Kurtzberg and Dr Dawson have personal experiences with autism which shaped them and what they wanted to do in life. They are now in the midst of the definitive trial on whether cord blood can treat autism — a double-blind, placebo-controlled trial involving 165 autistic children, ranging in age from 2 to 8. The FDA has oversight of the study.

At present they are overseeing the definitive trial on whether cord blood can treat autism. This is tested by using a double-blind, placebo-controlled trial involving 165 autistic children, ranging in age from 2 to 8. The FDA has oversight of the study.

The hypothesis of the study is that certain immune cells within the cord blood are crossing the blood-brain barrier and altering brain connectivity while also suppressing inflammation, which may exist with autism.

3. Genes

 Autism Speaks‘ MSSNG Project, has highlighted an additional 18 gene variations linked to the development of ASD. Nature Neuroscience Journal, published a report on this project which found that the 18 newly-identified autism genes can be instrumental in understanding the pathways in the brain that affect how cells ‘talk’ to each other. Furthermore, the report talks about ‘copy number variations’ and abnormalities, which are  essentially copy variations found in areas of the genome once considered to be ‘junk DNA’. These areas, full of the copy variations, help to control when and where our genes switch on and off and appear to be crucial to brain development and function.

Genetic sequencing for autism is paramount if we are ever to understand what autism is and  how we can prevent or treat it. Understanding the biological factors that contribute to the condition can lead to better treatments for each individual case, as no two people on the spectrum present the same traits.

4. Mutations

Ten years ago, Michael Wigler and his colleague, Jonathan Sebat, reported that ‘de novo’ mutations (mutations occurring spontaneously) occur more often in people with autism. The mutations they noted were in the form of ‘copy number variants’ (CNVs), deletions or duplications of long stretches of DNA. Data from more than 600 families, they identified CHD8DYRK1ASCN2A as some of the leading ‘autism’ genes.

Right now, 10 years later, researchers pinpointed 65 genes and six CNVs as being key to autism.  “More and more, we are erasing this idea of autism being a stigmatizing psychiatric disorder, and I think this is true for the whole of psychiatry. These are genetic disorders; this is a consequence of biology, which can be understood, and where traction can be made.” says Stephan Sanders, assistant professor of psychiatry at the University of California, San Francisco, who co-led the study.

Conclusions:

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The stigma attached to autism comes from the early link between autism and

schizophrenia. Swiss psychiatrist Paul Eugen Bleuler coined the term ‘autism’ to describe a key feature of schizophrenia. Specifically, Bleuler used ‘autism’ to describe how people with schizophrenia tend to disengage from the outside world. It was not until 1943 that an American child psychologist, Leo Kanner, reclaimed the word for the range of traits we know today as autism. Psychologists Noah Sasson and Amy Pinkham hope to build up a new vocabulary to help disentangle the two conditions in “The social ties between autism and schizophrenia“.

Autism is also commonly misinterpreted as a learning disability. Despite the fact that a good percentage of people on the spectrum may face learning difficulties in addition to an autism diagnosis, or may present the familiar autism symptoms, the two are separate. Intellectual disability, also known as learning disability, is currently defined as a significantly reduced ability to understand new or complex information, to learn new skills and a reduced ability to cope independently. Typically, this is measured by intellectual functioning (commonly referred to as IQ) and adaptive functioning  (day-to-day independent skills), both of which are significantly below that which would be typically expected with difficulties in most, if not all, areas of intellectual functioning and daily living skills.

This is why we need to learn, read and understand autism. Appropriate assessment and formulation can facilitate early intervention and help people on the spectrum get the help they require early on.

Our generation is lucky enough to be living in a time where autism is at the forefront, our stories are being heard and the research is ground-breaking. Stop wasting your time reading about Blac Chyna and the Kardashians and read these reports. Maybe next time you use the word ‘autistic’ you’ll know a more about what it means. Maybe if you learn about autism and teach your children about it, they will be inspired enough to become the ones that solve the puzzle. It may be that you are the one.