Diagnosing autism spectrum disorders (ASD) is based on a number of subjective evaluations. Unlike other diseases, such as diabetes, there is no lab test to say definitively that a child or adult has ASD, instead evaluation is based on a observation of the child’s behaviors and medical history. But all that may change. Researchers at the Children’s Hospital in Boston have been working on an experimental blood test which is showing great promise at being able to identify children at risk for developing ASD, especially boys.
The blood test identifies a genetic “signature” which consists of 245 genes associated with autism. Early observations show that the blood test is accurate 85 percent of the time. Scientists analyzed over 400 blood samples, 258 with ASD and 158 without to come up with a diagnostic lab test.
Early diagnosis of autism is critical to effective treatment. Medical experts agree that the earlier treatment begins, the more effective treatment is. Because of this, testing children who are showing signs of autism, such as lack of eye contact or delayed speech, as early as the toddler years can help assure that these children receive the therapies and treatments that will aid in their development. Currently, the average age of autism is 4 ½ years old. With the blood test, this may be able to be reduced to 3 years old, allowing for earlier treatments.
SynapDx, a early diagnostic lab testing company, plans to begin larger scale studies on the blood test in early 2013. They have already secured $6 million in grants to carry out the studies. The CEO of SynapDx is excited about the new diagnostic tool, “I think we’re at the beginning of a real revolution in the diagnosis of neurological disorders…that will really help diagnose neuropsychiatric disorders sooner. An early diagnosis makes it more likely that treatment will lead to better outcomes.” 
Researchers at the Children’s Hospital in Boston don’t want to stop with being able to identify ASDs though. They intend to continue their research, hoping to be able to look for ways to break down the diagnosis to classic autism, Asperger’s syndrome and other developmental delays.
Other companies are also working on ways to better diagnose ASD, including Lineagen, a company in Utah who is working closely with the Center for Autism and Related Disorders.
As the experiments and trials continue throughout 2013, we should be able to get a better idea of what exactly the blood tests can do and how early children can be tested.
“A Blood Test for Autism?” 2012, Dec 7, Laura Blue, Time.com
 “Blood Test Could Diagnose Autism Spectrum Disorders at Age 3,” 2012, Dec 11, Stephanie Baum, MedCityNews.com
“Genetics and Genomics,” 2012, Michelle Pflumm, Ph.D., Boston Children’s Hopsital
Published On: December 12, 2012