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Thursday, February 11, 2010

Top 10 Autism Research Achievements


Autism Speaks, the largest autism advocacy group in the world, has issued their list of the ten most important achievements in autism research.


The list includes epidemiological studies on the number of affected individuals, genetic studies pinpointing genes that are associated with autism, and treatment regiments.


Briefly, here’s the list:

1. Epidemiological studies. Autism affects 1% of the population.

2. Early intervention. An early childhood intervention called the Early Start Denver Model has proven to be an effective therapy.

3. Genome wide association studies (comparing entire genomes between affected and unaffected people). So far, genes involved in neuronal connectivity have been implicated in autism.

4. Genome studies of copy number variants (CNV). Autism-associated CNV’s tend to turn up in genes associated with neural adherence and connection, and/or genes associated with the ubiquitin pathway (among other things, involved in the turnover of synaptic products).

5. Combined therapies. Using a mix of medical (such as risperidone, an anti-psychotic drug) and behavioral therapy has been tested.

6. Mouse studies. Mice without the gene neurexin-1alpha (involved in synaptic operation) display autism spectrum symptoms.

7. Mitochondrial dysfunction. Some patients with mitochondrial disorders are at increased risk for autistic regression, particularly after having a fever. (As an aside, the researchers looked for a connection with recent vaccination and did not find any correlation. This can be added to the long list of studies that have shown a complete lack of association between autism and vaccination.)

8. Late language development. Autistic children have been able to learn to speak starting as late as 12 years old.

9. Language regression. Loss of language skills is specific to autistic children.

10. Autoimmune diseases. A family history of type-1 diabetes or of rheumatoid arthritis in the mother were linked to autism in the offspring. The immune system of the mother during pregnancy may be implicated.

You can get more details, including scientific references here:


2 comments:

  1. Interesting and important stuff! I only read the full entry on late language acquisition, but it seems to me that these studies have implications broader than autism, speaking to how all brains function.

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  2. That's definitely true. It's becoming more and more clear that autism is a disease of brain connectivity, either at the neuron or synapse level. Knowing more about it will surely have repercussions for other types of brain problems.

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