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Medicine Science

Rare Form of Autism Could Be Curable With Protein Supplements 163

ananyo writes "A rare, hereditary form of autism has been found — and it may be treatable with protein supplements. Genome sequencing of six children with autism has revealed mutations in a gene that stops several essential amino acids being depleted. Mice lacking this gene developed neurological problems related to autism that were reversed by dietary changes (abstract). According to Joseph Gleeson, a child neurologist at the University of California, San Diego, who led the study, 'This might represent the first treatable form of autism.' It is possible that some other forms of autism may also be linked to uncommon metabolic disorders — and so treatable through dietary changes, according to the scientists quoted in the piece."
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Rare Form of Autism Could Be Curable With Protein Supplements

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  • How late in life can treatment begin to help? Should everyone be on an autism diet to help prevent ever even showing signs?
    • If you RTFA, you'll see that all of the children affect are of middle eastern descent, and have parents who are 1st cousins. There isn't much hope for any other autistic children, I don't think.
      • Re:Cure who? (Score:5, Informative)

        by greensoap ( 566467 ) on Thursday September 06, 2012 @09:47PM (#41256369)
        If you RTFA, you'll see that all of the children they identified had those characteristics because it made them easier to identify. It doesn't say only children of middle eastern descent whose parents are 1st cousins can be treated with supplementation. It says the children identified by those traits had a form of autism that is also linked with the inability to transport those amino acids. Because their bodies are not able to process those amino acids it is theorized that supplementation may assist treatment. But more than anything, if you were a parent or caregiver of an autistic child then why wouldn't you try protein/BCAA supplements? These supplements are widely studied and concerned safe as far as I have ever read. They are readily available, just go to your local GNC. Or any supplement website.
        • by KMnO4 ( 684253 )
          I guess you missed: The researchers found that the supplements restore the children's blood levels of amino acids to normal. As for their autism symptoms, Gleeson says, the “patients did not get any worse and their parents say they got better, but it’s anecdotal”. Doesn't sound promising. Since normal brain development is a process that starts in utero, these amino acids are something that might require treatment to start immediately after birth to have any effect at all. Somehow with al
          • Oh, great advice... now we get a bunch of inbred kids with single parents! Next time tell them not to make babies with their family members.
        • Comment removed based on user account deletion
          • by geekoid ( 135745 )

            "Every time I see an article like this all I can do is think of my great grandma, who lived to 102 while eating everything cooked in pure lard and who made her sweet tea so strong you could see two teaspoons of sugar in the bottom of the thing."

            why don't you think of the 100s of thousand that died early from that diet? No, no. One data point.

            " i mean you can test newborns and find plastic in their blood, everything we eat is artificial, pumped full of hormones and preservatives and wrapped in leaking plasti

          • So I have to wonder like how in the 50s they had "radiation is your friend"

            I sure would hate to do without microwave ovens.

            Or treating cancers with radiation "scalpels".

    • by Paul Fernhout ( 109597 ) on Thursday September 06, 2012 @09:37PM (#41256321) Homepage

      http://www.huffingtonpost.com/dr-mark-hyman/autism-research-discovery_b_794967.html [huffingtonpost.com]
      http://www.vitamindcouncil.org/health-conditions/neurological-conditions/autism/ [vitamindcouncil.org]

      It sounds from those two sources like many cases of autism could be prevented by higher vitamin D levels of pregnant women and better diet, but in the first few years of life after birth, some aspects of autism can be reversed with vitamin D supplements and good diet. How far and for how many kids is still an open question.

      Also of general interest on eating healthier:
      http://www.huffingtonpost.com/dr-mark-hyman/food-industry_b_1559920.html [huffingtonpost.com]
      https://www.drfuhrman.com/library/foodpyramid.aspx [drfuhrman.com]

      • by assertation ( 1255714 ) on Friday September 07, 2012 @01:04AM (#41257243)

        The Huffington Post is not exactly known for being a reliable source. Dr. Furnham is just an ordinary MD, not a researcher, who likes to write diet books. The Vitamin D Council might be a bit biased in writing how Vitamin D can help autism.

        Hope it is all true, despite the sources being sketchy.

        No disrespect intended.

        Hope it is all true.

        • by geekoid ( 135745 )

          I was interested in this, but it's another 'Diet can cure Autism' bullshit with no evidence behind it at all. And parents reporting on their kids are HORRIBLE at it.

          It isn't true, and I have an interest in it being true.

        • You're more charitable than I am.

          The Huffington Post is notorious for publishing junk medical science, particularly in regards to autism. There are enough good science resources on the internet that I have no trouble simply ignoring health articles on the Huffington Post and letting my BS detector rest. If the science is legit it will also show up in legit sources.

        • ...both of the library variety and the hands-on variety in his practice. He cites thousands of reference sin his book "Eat to Live" and has had thousands of patients over his career.

          Researchers at Harvard University have seconded the vitamin D deficiency hypotheses as a potential cause of autism.
          http://www.vitamindcouncil.org/news-archive/2009/new-harvard-paper-on-autism/ [vitamindcouncil.org]

          Yet your post got modded +5 insightful. Still so much mis-info on slashdot about health... But I still feel it is slowly improving. And yo

    • Nobody knows yet if this will treat autism in humans. A major problem for developing autism therapy is that there are no validated animal models (although there are quite a few candidates). The problem is, what constitutes autism in an animal? The most troubling symptoms of autism in humans relate to social-emotional behaviors that have no strong correlates in animals. So what we have in terms of "autistic behavior" in animals are things along the lines of "does the 'autistic' mouse sniff the other mouse le

    • Pay VERY CLOSE ATTENTION you what you're about to read, in this post. Agree or disagree, but please do read: ...

      An evolutionary gene mutation that proves fit, happens once in (if I remember correctly;) 3000 years. (but I might be wrong).
      Now, why has society advanced so much over the last 3000 years? Because of the ability to read and write. But that's not all there is to it!

      Religion and later governance, has made sure that only the most fit for each particular system, survive. But how exactly does t

  • Sources of BCAA (Score:3, Informative)

    by Anonymous Coward on Thursday September 06, 2012 @09:11PM (#41256167)

    Red meat is highest in BCAAs. Dairy products also are good protein sources and contain high amounts of BCAAs. Some healthy choices in dairy include low-fat or nonfat milk, low-fat cottage cheese, low-fat yogurt, frozen yogurt, sour cream and low-fat cheeses. MayoClinic.com recommends reducing the amount of saturated fats in your diet.
    Additional dairy options include butter, cheese, cream, crème fraiche, eggnog, ghee and half-and-half. Some dairy products, such as ice cream, contain whey protein, which is loaded with BCAAs

    Read more: http://www.livestrong.com/article/286637-foods-high-in-branched-chain-amino-acids/#ixzz25kJBtIEO

    • by Ignacio ( 1465 )

      Dairy also contains casein, which many believe to be problematic for AS individuals.

      • by Anonymous Coward

        Which "many" believe this? The anti-vaccine crowd?

    • Re:Sources of BCAA (Score:5, Insightful)

      by assertation ( 1255714 ) on Friday September 07, 2012 @01:08AM (#41257267)

      Most Americans, Canadians and Many Europeans eat large amounts of those foods, yet autism is still a problem in those countries. Something doesn't fit.

      Your URL is to a web site article authored by a photojournalist. No credentials related to health, medicine or nutrition beyond being a personal trainer.

      The article doesn't mention autism at all.

      • by Sollord ( 888521 )

        Autism likely isn't a single cause or disease it's probably multiple causes showing similar effects to different degrees and I wouldn't be shocked to learn a large portion is related to our modern diet and lifestyle and it's interaction with long standing genetic mutations that were less pronounced because we were outside, far more active, and ate different food in different quantities in the past like how we didn't consume as much artificial/modified foods like HFCS or hell we never used to consume as muc

        • by geekoid ( 135745 )

          "d I wouldn't be shocked to learn a large portion is related to our modern diet and lifestyle and it's interaction with long standing genetic mutations that were less pronounced because we were outside, "
          Nope. It's the rate is same in areas with different diets. Countries that still kill what they eat.

          " how we didn't consume as much artificial/modified foods like HFCS "

          We ha autism before HFCS, and at the same rates.

          SO shut up, you are spreading inaccuracy and propagating lies spread by idiot who eq

    • Well, that certainly supports my theory that vegetarians aren't quite right in the head.
  • Any potential treatment is lightyears beyond what is available currently. This is awesome news!

    • by Anonymous Coward

      Behavioral treatments are wildly effective - about 40-50% of kids who receive quality intervention are indistinguishable from their peers after 2-3 years. It's a shame that we allow Jenny McCarthy and other anti-vax wingnuts to dominate the conversation.

  • by manu0601 ( 2221348 ) on Thursday September 06, 2012 @09:24PM (#41256245)

    We already knew about some forms of autism where a genetic disposition causes the lack of dipeptyl-peptidase IV, the enzyme responsible for breaking proline bonds during digestion. Proline needs a very special enzyme because the amine is tertiary, while it is secondary on other amino acids.

    Gluten and casein contain sequences with a lot of proline, and this class of autists never digest them completely. They are left with short proline-rich peptides known as gliadomorphine and caseomorphine. As the name suggests, theses peptides are able to bind morphine receptors in the brain. And for this class of autism, symptoms disapear with a diet without casein and gluten.

    And now we have autists with another genetic disposition related to protein digestion, this time with valine, leucine and isoleucine not being digested, and missing in the brain because they are essential amino acids. I wonder if we are going to discover more autism forms as being protein digestion issues

  • Great, so no one will know they have genetic defects. Way to pollute the gene pool.
  • Tangentially... (Score:5, Interesting)

    by florescent_beige ( 608235 ) on Thursday September 06, 2012 @09:44PM (#41256361) Journal

    I have a metaphorical way of making sense of autistic behaviors. Let's say the brain has some kind of sensory input buffer. Defects in that buffer might lead the brain to be overstimulated with sensory input and become preoccupied with them. The other thing the buffer might do...and this is where it gets more metaphorical and maybe less factual...is serve as a feedback path for brain-generated inputs, to sort of test things. Like when someone says "Imagine what it feels like when..." or even when you just think about real experiences you had. I think of dreams as maybe working like that too: brain generated inputs get cycled back through the buffer to serve as virtual experiences for...whatever dreams are for. That way of thinking about it leads to a way of understanding stimming behaviours: they can be thought of as dream-related movement that we don't do during sleep dreams because of sleep paralysis.

    I find having a (metaphorical and maybe not correct) mechanistic way of understanding autistic bahaviours makes it a lot easier to deal with them.

    • by mveloso ( 325617 )

      So...austistic people are basically constantly tripping? That would explain a lot.

    • I find having a (metaphorical and maybe not correct) mechanistic way of understanding autistic bahaviours makes it a lot easier to deal with them.

      Impressively, your metaphor is actually less comprehensible than the actual autistic behaviour.

  • by Anonymous Coward

    This is great, but it's not the first dietary link and metabolic disorder with a connection to autism. Phenylketonurics have diminished or zero ability to process phenylalanine, an essential amino acid. The build up of that material in the body causes multiple deleterious effects, including autism. People with PKU cut their intake of phenylalanine and they don't suffer the effects they would have. That's been known for decades.

  • I'm still not of the belief this is something that needs to be "cured". It isn't a cancer; my son is highly functional and gifted in certain aspects. People just need to learn to accept "different".
    • by Anonymous Coward

      My son has Autism as well as intelecutal disability and epilepsy, I would very much like to see it cured. There are ranges and differnet underlying causes. I think that in some of the more moderate cases it may well be with in the range of normal (Unix admin) behavior and curing it would be akin to trying to cure someone from organizational skills.

      • I think that in some of the more moderate cases it may well be with in the range of normal (Unix admin) behavior

        I think we call it Asperger's here. Luckily, it's easy to self-diagnose:

        Inability to talk to other human beings, except about computers? CHECK.

        Inability to talk to females about anything? CHECK.

        Diregard for tedious social conventions like washing? CHECK.

        Profound certainty in one's own uniquely superior intellect? CHECK.

        Tendency to write "Microsoft" as "M$"? CHECK.

    • by Anonymous Coward

      Plus I hear they really clean up at the blackjack table.

    • by thesupraman ( 179040 ) on Friday September 07, 2012 @01:15AM (#41257295)

      I have worked with many children with Ausitm.

      Not the gentle, "my kid is a bit different and doesnt learn well" type, the "this child will spend
      life in a wheelchair, with a head brace, except when 2-3 adults are physically helping them,
      is likely to die from swallowing their own tongue/vomit/saliva, and if not could possibly live until
      a good solid 15 years old, they cannot communicate in any way with those around then except
      in the very most basic anger/peaceful/other level, and fights for basic existance" type
      - I can assure you they would like a cure.

      Count yourself lucky if your child is not in that group, and dont talk such rubbish.

  • by Anonymous Coward on Thursday September 06, 2012 @11:15PM (#41256743)

    Being autistic, there are some limitations in my world from the viewpoint of other people. In my view, they are limited more than I am. I can understand what people are talking about even when I can't directly relate to it through personal experience or don't give the emotional response that others might give. I, however, can see past what they're talking about in ways that they cannot because of the limitations that they have in having information filtered out that I still receive. Yes, it can be an overload at times and there are situations that I don't deal well in (like crowded rooms, loud environments, or very bright environments), but I find that my particular form of autism is a huge benefit to me. I can conceptualize things that most people can't imagine exist. I can find solutions to problems from disparate sources that other people don't see as relevant to each other.
    If I had a "cure" available to me, I would refuse it. Why should I give up my giftings just to be like everybody else? Why can't I simply be accepted as me, just how I am?

    • by bgat ( 123664 ) on Friday September 07, 2012 @12:15AM (#41256993) Homepage

      If I had a "cure" available to me, I would refuse it. Why should I give up my giftings just to be like everybody else? Why can't I simply be accepted as me, just how I am?

      Because you aren't the presentation that such a cure would be appropriate for. But since autism is a spectrum disorder, and still a fairly general diagnosis at that, your specific presentation doesn't generalize to the affected population. Heck, we don't even define that population very concisely yet.

      I'm glad you see your condition as a positive one, and I sincerely hope that those around you also view your condition positively (and I use the term "condition" here with some hesitation, only because I don't know a better term and truly don't mean to be pejorative). But I know kids with the diagnosis who I'm not sure share your feeling---if they are even that aware. And their caregivers are greatly affected by their condition as well. Even something that just significantly improves their condition, without curing it, would improve everyone's lives immensely.

      And at the rate of increase of Autism-related diagnoses without anything resembling a cure on the horizon, we don't have to continue much farther before society as a whole must plan for accommodations. Many children with the diagnosis will need intensive, life-long supervision. Think Alzheimers, but over many, many more years.

    • I think I have the same kind of autism myself. I used to believe this was a gift that made me different in a good way but I didn't know of my condition. Now that I have a son with the same behavior as me, not only have I discovered the cause but I have learned a lot about myself and the "other" disadvantages, the ones you don't seem to have discovered yet, judging from your post. The main disadvantage is the difficulty for your parents to raise you. You see, you lack the ability to give back what you probab
    • I agree completely. I had very bad social problems as a kid but I've sort of adapted to "act" like everyone else. It's like training a robot to act human. Enough effort into it results in a somewhat working system of logical responses. Once a person is capable of realizing that there's a way they're supposed to act, they can train themselves to act that way. That's the border between completely autistic people and ASD type people. Autistic ones do not realize that they're supposed to be acting a certa
      • I had very bad social problems as a kid but I've sort of adapted to "act" like everyone else. It's like training a robot to act human

        You do realise that this is what every human being has to do? You don't come out of the womb as a fully formed social being, you have to learn it as you go along. Some people are more naturally social in the same way that some people are more naturally athletic or artistic. They're still just human beings.

    • I can conceptualize things that most people can't imagine exist. I can find solutions to problems from disparate sources that other people don't see as relevant to each other.

      Like a lot of (clever) people.

      there are situations that I don't deal well in (like crowded rooms, loud environments, or very bright environments)

      Like a lot of us.

      Sorry, but you are just a gifted human being, not some uniquely blessed/cursed new species of being.

  • by Charliemopps ( 1157495 ) on Friday September 07, 2012 @07:02AM (#41258635)
    Wouldn't it be ironic to find out all theses parents and their modern fad diets of all organic/vegetarian/whatever... are whats causing their children to be autistic and not the very "chemicals" they are trying to avoid.
  • by TCQuad ( 537187 ) on Friday September 07, 2012 @10:07AM (#41260285)
    My socially awkward and geeky personality led to pretty much every pre-med I met in college trying to diagnose me with autism. One of the diagnosis criteria that I remember them mentioning was food acceptance or preference issues (eating the same thing all the time, refusing to try new things, etc.). It's since been removed from the diagnostic criteria (it's not nearly selective enough), but it still occurs in a significant majority of cases. I'm curious if there could be a link here. The mice in the study were treated with a diet high in branched chain amino acids. According to livestrong, those foods are... well, I'd generally call those "kids food": red meat, chicken, nuts and cheese. I wonder if food acceptance issues in autism have a biological underpinning and kids are, essentially, trying to self-medicate with chicken fingers.
    • by geekoid ( 135745 )

      That's why they are pre med. In fact, they probably tried to diagnose everyone with something.

      Just like a yellow belt wants everyone to grab their wrist.

      The article isn't a study, and the 'improvement' ir parental observation; which is always horrible.

Keep up the good work! But please don't ask me to help.

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