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Two Studies in the News May Impact Early Autism Diagnosis

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dna.jpgTwo studies were in the news last week that may have an impact on future diagnoses of autism, allowing researchers to spot autism in two different ways.

One study, conducted by the Translational Genomics Research Institute (TGen) in Phoenix, Arizona, have gotten one step closer to determining a genetic component of autism. The TGen researchers discovered that tampering with a certain gene can cause a severe form of autism. The discovery was made approximately 18 months ago, leading researchers to believe that they will be able to develop a screening test to detect this gene, as well as other genes that may lead to the development of autism. The researchers point out that such a test is years away, but this is the first identification of such a gene.

The other study has a stranger focus. A team including MIT, Massachusetts General Hospital, and Harvard Medical School researchers has found a way to map how the folds in the outermost layers of the human brain develop. Using magnetic resonance imaging, they are currently looking at ways in which the development of these folds may serve as a marker for an early diagnosis of neurological conditions, including autism.

After the original research into how the folds develop, researchers turned to comparing images of what they determined were brains with “normal” development to those who had autism. They are hoping to be able to detect an “abnormal” development that would be an indicator of autism as well as other diseases like Alzheimer’s and schizophrenia.

While I’m sure that most people acknowledge that the ultimate goal is to find a way to prevent autism, the earlier that a child can be diagnosed, the faster that child can begin to receive services that may help in long-term development, including speech/language, physical, and occupational therapy.


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