Can autism be diagnosed already in the womb? And is it possible to cure children who will suffer from autism? New research provides positive hints in the direction.
The doctor took control of the situation quickly, and led her authoritatively to his office. "Ma'am, can you explain to me what the problem is?" Explore gently.
"The... tests you did on him," stammered the woman, her arm protectively over her stomach. "It says here that he will develop autism after birth!"
The Doctor breathed a sigh of relief. "It's perfectly fine, ma'am," he said calmly, coming from the heart, "it's just autism. We can cure the baby immediately after birth. He will grow up to be a completely normal child. You have nothing to fear."
He paused for a moment, letting the young woman absorb his words. His eyes followed her, but in his thoughts he went back a decade or two, to a time when there was no way to detect autism before birth, or to cure it. He shuddered. How difficult that time must have been, before the mechanism that causes autism was understood in its entirety!
*****
This scenario may seem futuristic, but these days the mechanism that causes autism is really starting to become clear. Perhaps, in a few years, we will already be able to diagnose a child with autism while still a fetus, and treat him as soon as he leaves the womb.
The new source of hope comes from a study published on April 7, 2010, in the Scientific Journal of the Federation of American Societies for Experimental Biology. As part of the study, lymphocyte cells extracted from the blood of pairs of identical twins were studied. Only one thing distinguished the identical twins: one of them had autism and the other developed without defects. Autism is indeed considered a disease that mainly originates in genetics, due to the fact that it is sometimes inherited in families, but there is evidence that some of the mechanisms that cause autism are epigenetic in origin.
What are the epigenetic mechanisms? The normal science of genetics deals with DNA, which contains the genetic code of the cell. DNA is similar to a book with tens of thousands of pages, where each page contains instructions for the production of a different machine - one of the tens of thousands of proteins that assist in the daily activity of the cell. But since each cell in the body needs different types of proteins, not all genes are translated into proteins. In a skin cell, for example, there is no need for a protein that helps to transport a nerve message, so the gene, or the page in the book, responsible for producing that protein, will be silenced by the cell. The silencing can be compared to applying a fine glue on the column we want to silence. The page will stick to the page before it, and it will not be possible to read it anymore. In the cell, the operation is carried out through 'methylation' - attaching methyl molecules to the gene that must be silenced, in order to prevent its translation into a protein.
In examining the lymphocytic cells taken from the twins, two particularly important genes were discovered that were silenced in the autistic children. One is called BCL-2, and when it's abnormal, it's often linked to severe mental retardation in patients. The second gene is called RORA, and it is responsible for a wide range of activities, including controlling the biological clock, protecting nerve cells from oxidative damage, the survival and creation of Purkinje cells in the brain, and brain development in general. Some of the phenomena that characterize autistic brains include a lack of Purkinje cells, oxidative damage and disruption of the biological clock. The silencing of these genes appears, therefore, as a possible cause of the onset of autism. It seems that the genes were not silenced only in lymphocytes, because even in the children's brains lower than normal amounts of the proteins BCL-2 and RORA were detected.
The research opens up the future possibility of predicting which child will develop autism through a relatively simple blood test, which will focus on extracting DNA from the lymphocytic cells in the blood.
Furthermore, we know that just as cells are able to silence certain genes, they can also open them up for rereading. Can the brain cells of autistic people be made to untie the cables of the two silenced genes? It may be so. The cells in the study were grown in the presence of a cancer drug known as dacogen, or decitabine, which causes a decrease in the amount of DNA methylation, and hence also a decrease in the degree of silencing that some genes experience. After the cells were soaked in the presence of the drug, they began to produce much larger amounts of the two silenced genes.
When we examine the facts as they are presented in the study, the question immediately jumps out: Will children with suspected autism, who will receive Dacogan, be able to 'bypass' the disease and develop normally? There is still no definitive answer to this question, but it is clear that even if clinical studies show that there is a chance for this, the treatment will not be simple. This is a drug with many side effects, and it is difficult to say how it will affect other cells in the growing child's body. But even in these initial stages of autism research, in which there is much that is hidden over the visible, it is likely that many parents will agree to share their children in the initial research that may improve their condition and ultimately, hopefully, eliminate autism from the world.
On the same topic on the science site
15 תגובות
Albert is completely autistic. I read what Michael wrote. I am also newly diagnosed. I am 47 years old
The reason I wasn't diagnosed was because I looked almost normal on the outside. finished
They even claimed against me that I am a liar cheater lazy …………..
Just not autistic. I'm autistic, absolutely.
I understand Einstein with his tongue out in the photos, he didn't want to be photographed.
Everything is understandable, all the oddities, I don't wear socks and I walk barefoot in the street sometimes.
Say it's just a collection of random cases, so it's called Asperger's, it has a name.
http://www.clalit.co.il/HE-IL/Family/parents/Development/articles/autism.htm
Significant achievements in science must come from a creature with a high ability to detach from the environment and focus on a narrow field.
No need to jump and get upset.
A lot of men are autistic or aspergers.
http://autisminnb.blogspot.com/2010/03/autism-not-gift-for-south-carolina-boy.html
http://dyslexia.learninginfo.org/einstein.htm
http://www.jonathans-stories.com/non-fiction/undiagnosing.html
http://www.pulitzer.org/archives/6642
http://www.ask.com/wiki/Historical_figures_sometimes_considered_autistic
http://wiki.answers.com/Q/Did_Albert_Einstein_have_autism
Unfounded classification of autistic people is probably an area that Baron Cohen found it convenient to make a living from.
Grace:
I'm surprised you don't understand.
Concentrate a little.
Try to disconnect for a moment from the noise around you and think.
Everything is written in my previous response.
All the examples I gave are of people diagnosed with Asperger's syndrome. They testify as such in all the interviews they hold.
The mathematician, for example, was diagnosed with Asperger's syndrome by researchers from the Center for Autism Research at the University of Cambridge:
http://news.bbc.co.uk/2/hi/3766697.stm
What is meant by "making sure to refer to a single symptom"? The examples I gave refer to all the symptoms of Asperger's syndrome.
Other examples of successful scientists and artists diagnosed as autistic:
Anthropologist Dawn Prince-Hughes:
http://www.text.org.il/index.php?book=0606061
The genius of calculation and languages Daniel Tammet:
http://www.notes.co.il/farber/55673.asp
Writer Cashel Moore:
http://www.mahjee.com/pages/blessing.html
Grace:
I see that nothing will help.
You can bring as many examples as you want (by the way - not all the examples you gave really talk about an autistic diagnosis. With the mathematician, for example, it's more of something that sounds like a joke).
You don't need generalizations to be a rock star or to be a music critic.
In general, it seems that you put a lot of effort into giving the examples - so much so that you give examples that are not examples and make sure to only refer to a single symptom.
Einstein did not exhibit any of the symptoms of autism. He was autistic just as he was religious - but I have no doubt that you will continue to argue.
To Michael Rothschild:
Here are several examples of autistic people (Asperger's) of our time, whose abilities to create generalizations brought them to extraordinary achievements:
a) Nobel laureate in economics, Professor Vernon Smith:
http://www.msnbc.msn.com/id/7030731
http://www.youtube.com/watch?v=w5bYbpdMy2c
b) Pulitzer Prize winner, music critic Tim Page:
http://www.nytimes.com/2009/09/03/books/03maslin.html
c) Fields Medal winner in mathematics, Richard Burkards:
http://www.guardian.co.uk/lifeandstyle/2000/dec
/12/healthandwellbeing.health1
http://www.simonsingh.net/Fields_Medallist.html
d) Rock star Gary Newman:
http://www.liverpoolecho.co.uk/liverpool-news/local-news/2007/07/20/gary-numan-aspergers-made-me-aloof-100252-19482198/
Not all autistics are alike, but still there are those who allow themselves to classify people they have never met and who show almost no typical signs of autism as autistic.
Do you not notice the contradiction?
I can also disconnect and sink into contemplation. I can do this even in a noisy environment. It has nothing to do with autism.
Einstein did not break away. He made a living and raised a family and at the same time did amazing work in the field of physics.
He had many friends, among them soul mates.
He was also quite a dress chaser.
seriously!
Michael Rothschild - not all autistics are alike, and many of them have unique characteristics that cannot be generalized. So Grandin Temple is unable to generalize. Who says it's the same for others? Autistics have a wonderful ability to detach that allows them to sharpen their senses and concentrate on certain things, and it is very possible that Einstein's ingenious "thought experiments" were such a detachment.
Grace:
To me, the stories about Einstein and Newton are nothing more than a private case of a much wider phenomenon.
Any group of people that feels the need to pat themselves on the back tries to recruit exemplary figures to its ranks.
As part of this phenomenon - the religious also try to appropriate Newton Einstein and Freud.
These are all lies.
Einstein was definitely not autistic.
His rhetorical ability was excellent and so was his ability in human relations.
Newton, apparently, was not autistic either. His biography suggests that he was probably homosexual, but that is not entirely clear either.
Grandin Temple provides us with first-hand testimony about "what it is to be autistic" and a main component of the experience she describes is the fact that the autistic has difficulty making generalizations. That is why she says that she thinks in pictures and that every time someone says the word "church" she sees before her eyes a specific church and not the general term.
To come and claim that Newton and Einstein - the people who provided us with the most amazing generalizations ever discovered - suffered from difficulty in creating generalizations - seems really grotesque to me.
to Richard –
Were Newton and Einstein autistic?
At least this is the opinion of an expert who examined their behavior in childhood and adulthood. According to him, the two apparently suffered from signs of Asperger's syndrome, which manifests itself in autism, without learning difficulties:
http://www.ynet.co.il/articles/0,7340,L-2605733,00.html
Albert Einstein and Isaac Newton apparently suffered from a certain type of autism, known as Asperger's syndrome, British experts claimed in an article published yesterday in the "New Scientist" magazine:
http://www.inn.co.il/News/News.aspx/50265
According to an expert on Brown-Cohen notation, it is quite possible that Albert Einstein and Isaac Newton showed many signs of Asperger syndrome, a type of autism that does not lead to learning disorders:
http://www.doctors.co.il/ar/2169/%D7%90%D7%99%D7%99%D7%A0%D7%A9%D7%98%D7%99%D7%99%D7%9F+%D7%95%D7%A0%D7%99%D7%95%D7%98%D7%95%D7%9F,+%D7%90%D7%95%D7%98%D7%99%D7%A1%D7%98%D7%99%D7%9D+q00
Roy, you don't necessarily need one to carry the whole burden...
It is true that one can create a change of perception that others cannot imagine...
such as the transition from Newtonian mechanics to Einsteinian mechanics.
Einstein was not autistic, apparently, but not exactly sociable... rather, skilled in social relations.
Eliminate autism from the world? Not sure that this is such a good idea, as the rabbi of the hidden over the visible wrote - there are quite a few autistic or mildly autistic people who have turned out to be geniuses in their field, although it is possible that they will experience a difficult life and they will not have the life of what most of us define as the norm, but their contribution to the development and progress of humanity is great She. Therefore, it is not certain that we should play with this kind of disease, we may one day reach a situation where every soft baby born will be adapted not only behaviorally but also genetically to a certain model, a breed of cut-out cardboard dolls.
Regardless, an interesting article and there is no doubt that despite what I have written we do need to continue researching (like this study) and understand more especially about this disease and in the end if there is a possibility to eliminate it it should be a choice of the parents.