Autism Linked to Genes That Govern Learning

By Eliza Strickland | July 11, 2008 8:40 am

baby blocks playResearchers have discovered five new genetic defects that are linked to autism and that appear to share a common function: They’re associated with learning, and are part of a network that allows a child’s brain to build new connections in response to experience [Web MD].

Symptoms of autism typically emerge during the first five years of life — a period when a child normally picks up language, social skills and many other new abilities. Scientists call this kind of growth “experience-dependent learning,” and researchers know that it is associated with enormous changes in brain circuitry. At least 300 genes switch on and off to regulate experience-dependent learning [Time]. Researchers say that the newly identified genes, as well as others already linked to autism, may fail to turn on during this crucial developmental stage, preventing children from learning those social skills and abilities.

The study, published in the journal Science [subscription required], found that many of the mutations did not result in missing or damaged genes, but simply turned them off [Reuters]. This gives researchers a promising new avenue to explore in the quest for an effective autism treatment. “That gives us the potential, in the long run, to develop therapies that may be able to reactivate those genes that are silent,” said [lead researcher Christopher] Walsh [ABC News].

The findings jibe with what some clinicians see in their offices. Clinician Gary Goldstein treats his young patients with hours of therapy each day to reinforce social behavior, and says this study shows why such laborious treatment is effective. “I was excited by this paper; it shows why this could possibly work, why the early intervention works,” he said. “It’s because the genes that are underlying autism are capable of being turned back on” [ABC News]. Still better, however, would be a medical treatment that turned the genes back on.

Image: iStockphoto

CATEGORIZED UNDER: Health & Medicine, Mind & Brain
  • jumbie

    That’s the American way! Why spend time and energy working on a problem when you could pop a pill instead!

    P.S. I am all for autism research, but I think behavioral therapies will continue to be the most therapeutic.

  • Emily

    I work daily with children with ASD and I think what you have said is insensitive. Do you have any idea how labor intensive not to mention expensive behavioral therapy is? Many insurance companies will not cover all or even any of it. The result? Poor kids with Autism don’t do as well as well off kids with Autism. How fair is that?

    If Autism can be “cured” or lessened by popping a pill why fight that. Anything that will level the playing field for kids/families of low socio-economic status is a good thing.

  • Rachel

    My son needs all the help he can get just to be able to retain the skills he learns in intensive behavioural therapy. He works so hard but requires thousands of reps sometimes before an action is learned to the point where he can initiate it on his own. A pill that could help him learn faster would be a miracle.

  • Gary

    Jumbie – if you had an autistic child, would you withhold medical treatment in favor of a behavior only approach? If so, you aren’t doing all you can for you child. Autism isn’t ADHD, or a cold, or a slight cognitive delay – it’s a pervasive disorder affecting all parts of the child and their family’s life. You obviously prefer glib ignorance over thoughtful consideration of what’s best for the child.

  • Montvillian

    Jumbie – I encourage your support of behavioral therapy, but there is nothing wrong with “popping” pills if they provide substantial learning benefits and a better quality of life for the child.

    I am a proud parent of a 12-year old autistic son. He has made tremendous progress since he was diagnosed age 2.5, but he will always have challenges and require assistance in his life.

    Much of his success can be attributed to the endless hours of instruction and behavioral therapies implemented in his classroom and reinforced at home. We have a team that includes neurologists, psychiatrists, occupational and physical therapists, behavioral therapists, instructors, aides, and our extended family.

    However, much of his success can also be attributed to medications that are available today. His mood, outlook, motivation, and ability to learn improve with the right medications – prescribed by medical professionals, constantly tuned for positive effect.

    This is amazing news! Scientists have identified a myriad of genes that may be involved in this profoundly debilitating disease. There is hope for future medical treatments that will help children during their most formative years. This would help the body heal itself by switching genes that are in the wrong state – much less crude than treating symptoms in late childhood with psycho-pharmacological medications.

    If we can identify children at risk and provide scientifically proven treatments in early childhood – perhaps a combination of gene therapy, medication, and behavioral therapy – why wouldn’t we?

    We can only hope that there is help on the horizon for children with autism and pervasive developmental disorders. Who knows, these treatments may even benefit older children and even adults with autism. I, for one, believe that the mind continues to grow long after childhood.

    – Montvillian

  • Darcy Horrocks

    >’many of the mutations did not result in missing or damaged genes, but simply turned them off …“That gives us the potential, in the long run, to develop therapies that may be able to reactivate those genes that are silent,” ‘

    Coupled with other studies and apocraphal reports suggesting autism can also be brought on suddenly by systemic shocks during development, this article’s research strongly suggests autism may be epigenetic rather than genetic.

    This is good news. There is a growing body of research suggesting various “genetic” conditions are actually epigenetic: the result of parts of the genetic code being switched off (or on) early in life (or even before birth: triggered by parental changes) by methylation of various genes.

    That is, the core DNA is fine, but parts of it are being actively suppressed by the body at the time they would normally be expressed: methylated genes cease to function normally.

    From a “cure”‘s perspective, the outlook is good. Some research is already having success reversing methylations in adult animals: eg Michael Meaney at McGill uni in Montreal has successfully reversed a psychological epigenetic condition (stress/anxiety) in mice by demethylating the stress genes.

    Very early days yet, but augurs well for the future.

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