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The genetics of autism

Researchers at the Hebrew University have mapped the genetic systems that are damaged in the brains of people on the autism spectrum

Doctor Shagiv Shipman (right) and Eyal Ben-David. Photo: The Hebrew University
Doctor Shagiv Shipman (right) and Eyal Ben-David. Photo: The Hebrew University

Autism spectrum syndrome is a group of developmental disorders that have a high prevalence in the population (between half a percent and a percent of children suffer from the syndrome). The children on the autism spectrum are characterized by difficulties in social and communicative interaction, and by repetitive behavior or limited to narrow areas of interest.

Autism has a strong genetic basis, but so far, attempts to find the genetic factors have met with limited success because there is no single gene that causes autism, but rather there are many genes that are involved in the development of the syndrome. Moreover, different genes are affected in different children, so it is very difficult to discover the common basis between them.

In a new study, conducted by doctoral student Eyal Ben-David under the guidance of Dr. Shagib Shipman from the Institute of Life Sciences at the Hebrew University and recently published in the prestigious journal PLoS Genetics, the researchers tried to identify groups of genes that work together, instead of looking for individual genes that are related to autism, with the aim of understanding the compromised system. The researchers sought to identify the degree of involvement of rare mutations and genetic changes common among the entire population in the development of autism. The researchers also checked whether these diverse genetic changes focus on the same types of genes.

"We mapped a network of genes that characterizes the proximity between different genes according to their patterns of action in different areas of the human brain," says Dr. Shipman. "The gene network allowed us to identify groups of genes with a common function." In the next step, the researchers used data regarding common and rare genetic changes collected from thousands of families with children on the autism spectrum in order to check which genes are affected.

By examining the mutations that have been linked to autism so far, as well as thousands of common genetic changes that tend to be more common in autistic children, the researchers found that certain groups of genes show a high frequency of these genetic changes. The expression of these groups of genes tends to be high in the first years of life and characterize common neurons in areas of the brain related to memory, learning and processing sensory information.

"The research shows that despite the great variation in the genetic components in different people suffering from autism, the genes that are affected are mostly related to those 'supergroups' that are affected by a combination of common and rare genetic changes," explains Dr. Shipman. "This can explain, on the one hand, the similarities in the behavior of different people who are diagnosed with the syndrome, and on the other hand, the great diversity and variation in the impairments that exist across the autistic spectrum."

Extensive genetic mapping methods may allow early diagnosis of autism. "The research results open the door to hope that by focusing on these gene groups, it will be possible to develop specific drugs in the future that will help the symptoms of autism, even if they originate from different genetic factors," concludes Dr. Shipman.

20 תגובות

  1. Gessia Shaham
    To cure a disease, you need to understand the causes of the disease. This study was concerned with finding the causes. In the past, they tried to cure a disease based on its symptoms, and we know that this can do more harm than good. And on the other hand - there are diseases/defects that can only be treated with symptoms.
    Without research - we will know nothing.

  2. Please - enough and enough to analyze autism from a genetic, psychological, etc., etc. perspective!!!!!! When will all the glorified scientists who know exactly which genes lead to autism use their knowledge to find salvation for autism?? How to prevent autism?? Please use your knowledge to save us from the curse called autism!!

  3. With all due respect. must know.
    The definition of autism is not stable and most autistics are not classified and some of them have dual morbidity.
    Furthermore, the diagnosis changes every few years.
    It is an unclear amorphous creature.

    And as a psychiatric professional clearly says: any research on the subject that does not confront the exact definition of the phenomenon will fail.
    And of course there is psychogenic autism, every professional meets it. And on the other hand there is also autism which is distinctly neurodevelopmental. There are different types of autism, unfortunately the division is not clear cut and the reasons for this are many and varied.

    It is a shame that today's respected researchers did not consult with clinical professionals who are familiar with the wide variation of the phenomenon.

  4. Look, a point is, in general, an ignorant and religious person - hates women, etc.
    He is kind of autistic himself, in the bad sense of the word. sees only himself. Determines facts and is unable to see the other. There are autistics in a much more difficult situation and he is also unable to see them.

    Autism in general is mainly a male problem. Extreme masculine personality of inability to empathize or understand social situations.

    Liviv, with women it is different and there is an opposite problem. They delve too much into other people's problems and forget themselves.

  5. I am autistic and I recognize other people's needs besides my own.

    Point, you have never met autistic people.

  6. Refers to the point.
    I am an autistic mother and your way of thinking is interesting. I agree with your statement regarding treating another person out of his needs. But please continue the line. My 15-year-old son has adapted certain patterns of behavior and thinking. It is clear that it is difficult for him to conduct himself socially without close support. I asked you, assuming that this is a psychological factor, how can I help him at his age?

  7. Chen, I wrote "does not recognize the existence of another person beyond his needs".

  8. To the point: why do you claim that autistics do not recognize the existence of other people?
    After all, many autistics are active members of the autistic community, run by autistics.
    If autistics do not recognize the existence of other people, then how is it that a lot of autistics founded organizations for themselves and a lot of autistics organize events for themselves?
    For example: Outrite, Otscape, the International Autistic Day, the community of people on the autistic spectrum in Israel, etc.

  9. It is very difficult to accept that autism is a genetic problem. Imagine what happened in all the previous hundreds of thousands of years when an autistic child was born - I believe that in all the types of societies that were customary, such a person did not produce offspring and could not "spread" the genetic fault.
    I would be happy to see more studies that examine the connection between the increase in the phenomenon and man-made pollution in the air and on the ground and in the sea.

  10. Raphael
    Cheap demagoguery and nothing else. The things you said about me actually repeat yourself.
    You're the one who decided his nephews are great, sweet kids, based on what? have you met them
    Or maybe you have an axiom that every child must be wonderful and sweet, and it is not possible otherwise.

    And regarding facts, an autist is a person who does not recognize the existence of another person beyond his needs
    To say about such a person that he is nice and great sounds absurd to me.

    So it's true, we try to "help" (and actually try to change) those children so that they don't become autistic, because an autistic person, beyond his egoism, is a burden on society, so we try to change it, as Shiron says.

  11. Liron, I hope you won't have to hear nonsense from more self-proclaimed experts who sit in the parents' room and reach scientific conclusions based on zero understanding and zero data. One of the characteristics of childhood and childishness is the illusion that you know everything and understand everything. Only when a person knows the world and life does he understand its nothingness and stop with stupid announcements.
    I'm sure your nephews are great, sweet kids with or without the syndrome and its consequences

  12. Yaron, what does this belong to hardness of heart? Just throwing words in the air? Pay attention to what I said.

  13. I have two nephews with autism.

    Everything he wrote brought tears to my eyes... the hardness of the heart, the opacity, the ignorance, the cruelty, the lies. How psychological? How does a two-year-old child suddenly stop talking, suddenly stop making eye contact, suddenly go into fits of hysterical crying? How does he suddenly have to arrange everything in a row and repeat certain patterns of action again and again and again?

    And who asked for mercy? Asking for awareness and help in appropriate settings so that they "get well" or get out of their closed world and live a normal life.

    The older nephew of the two is receiving ABA and naturopathic treatments and has improved wonderfully. It's good that his parents didn't take the doctors' advice - "That's the way he is, there's nothing to do, you'll have to live with it."

  14. One of the results of this assertion of mine is that autistic people should not be pitied in the same way as a person born with certain physical disabilities is pitied. That is, the autistic person is not said to be a person who has autism (the emphasis is on "he has"), but it is said that he is what he is (autistic), and if that is what he is, then what is the arrogance of feeling sorry for him.
    While for someone who was born with physical disabilities, it would not be accurate to say that he is disabled, rather it should be said that he was born with a disability (he has a physical disability, "having" = belonging, and belonging is somewhat external to him).

  15. Chen T, look at things this way, genetics does indeed prepare the conditions for the formation of autism. But the very creation of autism is a psychological matter. It is like certain physical environmental conditions exist so that we can predict that the person will make a certain decision, yet we say that the decision is psychological. The same goes for autism.
    The distinctions in autism mix all kinds of symptoms that are results of (psychological) autism but are not autism itself. And as certain decisions lead to certain results, we are still smart enough to separate the result from the decision itself.

  16. point,
    Autism is a genetic result, the effects of which can be weakened through many treatments, but never eliminated.
    There are over 1100 types of autism located in different places on the autistic spectrum. Some of them are so difficult to diagnose that the autists themselves sometimes discover them by accident at the age of 18...
    Some of them can be clearly detected at the age of 2, because they are distinct and difficult, and some are detected only at the age of 4-5 and they are the ones who can integrate into society, work, studies and start a normal family.

    I wish autism was a psychological problem!

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