Autism. One of the scariest words uttered to a parent. The disease is manifested by poor social interactions (including little verbal communication), and often accompanied with repetitive behaviors by the child. And, the problem is that diagnosing autism spectrum disorders (ASD, as they are formally termed) – at least, right now- requires psychological evaluation by experts, and that typically occurs after the child may be too old to provide it the best chance to develop (almost) normally.
Which is why there is a race going on- to find a diagnostic test or means of detection that can be administered early. One that provides few false positives and does not miss those suffering from the disorder. This is already one of the big problems with the psychological (subjective) assessments that are the only means we have now for diagnosing autistic children (or adults).
Dr. Valerie Hu led a research group at George Washington University (Drs. Nguyen, Kim, Steinberg, Sarachana, Scully, Soldin, Luu, and Lee) that identified gene expression signatures that could discern ASD between normal and ASD-manifesting twin sets (PLOSOne). The tests employed alterations in the RNA expressions from peripheral blood. The signature? 245 genes, so microarrays of genetic activity need to be discerned.
Drs. Kunkel and Kohane (Boston Children’s Hospital) may have identified a smaller genetic signature that gets turned on (or off) by those suffering from ASD. And, by choosing only 55 of those gene sets (about 20% of the total identified by Hu et. al.) means that 75% of the population with autism can be discerned. Kohane (along with Saxena, Ramdas, Ochoa, Wallace, and Bhide) described the Linkage-ordered-Gene-Sets (LoGS) tests in a PLOSOne article (December 2012).
The test is more accurate among boys tham it is for girls. The test has been licensed to SynapDX, where Dr. Kohane is a scientific advisor to the firm. SynapDX is based in Lexington (MA) and is a venture-capital based firm (North Bridge, General Catalyst, Kraft Group, Bain Capital Investors, as well as the huge medical laboratory/testing firm, LabCorp). The company is now undertaking a 660 patient test (at 20 sites) of the diagnostic system.
One should not that SynapDX has no treatment or therapy for the disease; it’s only goal is to make money selling and administering the identification tests.
It would be wonderful to have tests for early detection. I have heard of kids that haven’t been identified until Kindergarten age. Some of this, I believe, is due to parent denial. At least I have seen parents in denial that has been detrimental. Luckily someone pointed out issues to us when my son was 2 and I truly believe early intervention has helped him tremendously.
I agree with your entire statement, Alessa. Which is why I am publicizing this new diagnostic tool- even though I fear it may be at a price that reflects emotion and not true return on investment…
And, I still want us to determine why there’s an increase in spending to find preventions and/or cures. (There are correlations- but NOT causation proof- regarding pollution, but one must recognize that since Reagan’s time pollution has been increasing, so to prove that is related to the increase in autism is tenuous, at best.)
Is this diagnostic test very expensive?
It has not yet been announced, Ann- and that is among the bigger questions I have for this test, as well.
Maybe this will help. Or maybe we cannot tell at a very, very early age what will switch on or off a few months later to usher in things like autism and Asperger.
Early diagnosis is critical, David. Because, then, we can adjust the environment for the child, helping her/him develop as normally as possible.
I have a brother in law with autism. He wasn’t diagnosed (this was in the “bad old days” until he was 19 and even then, never received any training, any therapy. Early diagnosis is so essential.
Absolutely true- and thanks for adding those facts to the discussion. Because they are the critical issues.