Missing Genes May Contribute To Autism Risk

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From DisabiltyScoop


Shedding more light on what’s behind the developmental disorder, new research suggests that people with autism are more likely to be missing genes than those who are typically developing.
In a genome analysis of more than 800 people, researchers found that gene deletions were more common in those on the spectrum. That means that individuals with autism had a single copy of one or more genes when they should have had two.
“This is the first finding that small deletions impacting one or two genes appear to be common in autism, and that these deletions contribute to risk of development of the disorder,” said Joseph Buxbaum, a professor of psychiatry, genetics and genomic sciences and neuroscience at the Icahn School of Medicine at Mount Sinai who led the study published this week in the American Journal of Human Genetics.
Such gene deletions may cause brain neurons to be miswired and behave differently, the study found, increasing chances that a person will develop autism.
For the study, researchers looked at 431 individuals with autism and 379 people without the developmental disorder. They found 803 gene deletions in those on the spectrum and 583 in the control group. Those with autism were more likely to have multiple small deletions, the researchers said.
While gene deletions are common and help make each person different from the next, the study found that some of the extra deletions seen in individuals with autism may be contributing to the disorder.
A significant number of these extra deletions were related to a process called autophagy that helps keep cells healthy and is believed to be important for brain development, the researchers said.
Further research is needed to fully understand the link between gene deletions and autism, Buxbaum indicated, adding that he and his colleagues are continuing to analyze the genomes of thousands of individuals with autism.

that resonates with me, I have long felt that I was missing something upstairs and elsewhere.

Although missing genes may ultimately be to blame, they could also account for neuroplasticity countering this with high intellect. The epigenetic effects of these ommisions in the sequence far outweigh the significance of the discovery itself; as auntblabby said once and again, many of us knew in a literal sense about this years in advance. Heavy reliance on the visual cortex could be looked at in this context as an evolutionary mechanism and NOT a disorder. Actual neuronal misalignment isn't necessarily misalignment if it results in self-awareness. A real 'cure' would have to acknowledge this.

_________________
"Standing on a well-chilled cinder, we see the fading of the suns, and try to recall the vanished brilliance of the origin of the worlds."
-Georges Lemaitre
"I fly through hyperspace, in my green computer interface"
-Gem Tos

So scientist are still toying with the idea that autism is down to genetics, maybe or possibly seems to be the most popular words used by experts in the scientific world over the years. These are the same people that thought LSD and electric shock treatment would solve autism between the 1950s and 70s.

Before the experts start preaching about genetics being responsible for autism, they need to find out how the mind works and where human behaviour stems from first.

Scientist today are honoured for their theories, later on another scientist is honoured for debunking that theory. It seems like all you have to do today to be recognized for your work is have a great idea about something, whether it's true or not.

Whenever you see autism and genetics in the same sentence “possibly” or “maybe” follows. So far scientist have managed to sequence 90% of the genome, the other 10% is apparently junk not worth sifting through, so far there is no indication that genomes have anything to do human behaviour.

Genes may write the show giving the instructions for life, it’s the mind that sets the stage, without a stage there is no show. Until scientists understand how the mind works they will always be fumbling in the dark when it comes to human behaviour.

Neurons and Synapses form the wiring of the brain. The brain processes information by forming networks of neurons which communicate electrical and chemical signals to one another. These messages form the foundation to our learning and memory capabilities during our development in the womb.

It has been proven that babies can smile whilst still in their mother’s womb. How does a baby know to smile if their brain has never received any information on how to make a smile before, where would neurons access this information inside the womb?

Neurons and other body cells both contain a nucleus that holds genetic information, none of this information can explain human behavior. Where does a smile come from? Why do human beings blush? Where does a sense of humor come from?

Did you know that human beings have much more than just the five physical senses we are taught about at school. We can sense distance, the mind senses when something is wrong, we can also sense danger. Some scientists have recognized for years that the sensation of hot and cold are senses, so is the sensation of hunger and thirst.

When you walk into a room full of people you don’t know, you can sense when someone is staring at you. We can even sense when someone is in the room with us even though the room we occupy is suppose to be empty.

Scientist can’t work out if the mind and brain is the same thing.

1996, my stepfather telephoned me where I was living at the time in Sweden, he was calling from England, it wasn’t like him to just telephone out of the blue. He asked how I was and so forth, nothing out of the ordinary, the usual conversation to see how I was doing, he ended the conversation with “takes care son.” After I went and sat down next to a friend by the name of Olaf, I told him that my father would be dead soon, he thought I was being foolish. A week later my stepfather died of a heart attack, his first and only one, he was 58 years old.

The year was 1978. My sister and I were on vacation in the south of England, our mother and father stayed at home. We were staying with our aunt and uncle some 300 miles away.

It was Saturday morning, I went down stairs for my breakfast and sat on a long wooden bench next to the dining table, all of a sudden I felt a warm sensation shot across my arms and chest, at that exact moment I knew my mother had just passed away. I wasn’t told of her death until three days later, my aunt and uncle felt it was my stepfather’s duty to tell us our mother had died. I already knew anyway, I was 13 at the time.

How did I know that my stepfather was going to die a week before he died of a fatal heart attack? How did I understand that the sensation I felt when I was 13 years old through my arms and chest meant that my mother had just passed away?

There are no scientific answers to how I would know beforehand the death of my father or feel the moment that my mother passed away. How did I know? I sensed it.

Yes we can delve into the far reaches of matter and work out the instructions for life (neurons and genes) but we still have some way to go before we understand whose navigating life, the mind or the brain.

The reason I mentioned senses before is because the mind senses everything, we literally sense the world we live in, something else scientist have yet to realize.

I know everybody’s autism is different “autism spectrum, everyone is different” that’s what I always say.

Up until the age of six I had no way of expressing myself, I wasn’t able to talk properly or put words and sentences together, I couldn’t look anyone in the eyes but my mother. I would sleep two or three hours a day, every day. For the remaining time I would run around full of energy, I wasn’t able to sit still.

If I sat down I would rock from side to side whilst blinking my eyes and biting my hands. This continued even when I went to bed, in bed I would sing the same song over and over again (I could sing yet I couldn’t talk).

More than forty years later some of my childhood symptoms of autism have untangled themselves, my condition has improved. Unfortunately depending on what type of stress I’m enduring my symptoms change, I go from talking too much about myself or whatever it is that I know, to someone stood in the corner of a room unable to talk or express themselves, I couldn’t even tell you my name. My speech if any is reduced to a slur, I end up stuck in a world of my own. I experience both mild and severe autism, my mind slows down or shuts off altogether.

Stress sends my mind off balance, after about 16 hours my mind goes back to mild autism again (aspergers).

Depending where someone is on the spectrum, other people with autism seem to be experiencing the same continues state of mind, where ever their mind might be.

(Could all this be a sign that the mind moves at a certain speed).

No doctor or sociologist can explain why my mind goes from one end of the autism spectrum to the other and back again. The reason why the medical profession can’t figure out what’s happening to me, is the same reason why they can’t figure out what causes bipolar, autism, tourette syndrome, or many other mental conditions, it’s because they don’t understand how the mind works and where human behaviour stems from.

If we are ever going to understand what triggers the symptoms of autism, then we need to start looking at the mind separately from the brain and its functions. I know it’s a hard pill to swallow, but the mind and brain are not of the same substance, the brain might be a complex piece of machinery that helps us think our way through life, it’s the mind that senses the world we live in, the mind navigates life.

I know it’s only my belief unless I can prove it, but like all theories, along with experiencing the symptoms of autism from both ends of the spectrum, belief is all I have. I believe autism is a product of the environment,

Children absorbs the world and its contents at a greater rate than adults, they sense everything in their environment. During the minds developing process when we learn communication skills (up until 18 months old) babies can also sense anxiety and stress, the same as adults.

When two people argue and fight, a bad atmosphere develops. Atmosphere fuelled by anxiety and stress affects the minds of adults, why would it not affect the developing mind of a child?

Anxiety and stress are two of the main conditions imbedded within autism, throughout the spectrum. Anxiety and stress are also factors with other mental conditions.

All human beings can be traumatized by what they experience in their environment, it’s no different for a newborn, a newborns mind is consumed by their environment, the mother and the world around them.

A change in the environment when something is wrong creates stress. Stress changes the atmosphere, adults feel it, they can sense it, babies can also sense it.

Stress triggers the symptoms of autism in babies whilst their mind is going through a crucial developing process, a process where any impression influences their being.

If I went to my doctor and told him that I had a funny feeling that something was wrong, and then my doctor sat me down and told me I was terminally ill. Would the doctor be able to explain how I knew something was wrong with me without his knowledge beforehand?

We need to understand the mind and how stress affects human behaviour, we also need to understand how we are able to sense many aspects of life through an atmosphere. Stress is a form of cross contamination, it interferes with the mind during a crucial developing process, when we begin to develop communication skills.

Has anybody ever wondered why of all the animals and creatures there is on earth, human beings are the only ones that need a lot of assistance during birth and labour, we are the only mammal on earth that has lost their natural habitat for birth?

I’m sorry, but I’m babbling on forever, I have to stop myself. I have written a book about all the above and what I believe causes autism, along with how to prevent the symptoms of autism, and what I believe causes bipolar.

I have written about a change in culture that coincides with the increase in autism cases we witness throughout the developed world today, a change in culture created for us over the last hundred years, a change that affects human nature.

Because I live with terrible anxiety, I’m prevented from publishing the book, the contents of the book just sit there, my mind goes over every page every day, it’s as if I’m scared to show other people what I understand. My anxiety makes me unsure of myself and what I have written I guess. As some of you must know on wrong planet, anxiety is a terrible monster that gets in the way of everything.

Imagine locking yourself away from the world for three years so you can try to understand the mind and what causes autism, all on the back of your own experiences, and once you reach your goal anxiety stops you from telling anyone.

That’s where I am today, how do you market a book if you are like me and don’t trust anyone, especially with a subject most people don’t seem to understand, how the mind works and what you believe causes mental conditions such as autism. It doesn’t help that I shut myself off from society and work life out for myself. Publishers are like sharks, waiting to get what they can, it doesn’t help that I don’t trust them also.

What would you do?