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A Pediatric Perspective

New Diagnostic Test for Autism Spectrum Disorder

Published March 29, 2010 12:08 AM by Wendy Hof

The Boston Children's hospital has just released information on a study they have completed with the Boston based Autism Consortium showing that a new test for children exhibiting Autism Spectrum Disorder symptoms has approximately 3x's the detection rate for genetic changes that relate to diagnosing ASD then the standard tests available to families today.  The standard testing that is done now (karyotyping and Fragile X testing) often comes up with negative or inconclusive results.  Because the new test, chromosomal microarray analysis (CMA), is able to offers about 100-fold greater resolution it is able to see the tiniest of sub-microscopic deletions or duplications of DNA sequences which are believed to be able to diagnose whether a child has ASD or not.

The good news is this test may be able to help diagnose children showing ASD symptoms/developmental delays earlier than is now possible and also help families who have a child with ASD/developmental delays know if they have a higher probability of having another child with ASD/developmental delays.

The bad news is that with CMA being a new test many insurance companies consider it to be a second-tier test (or a test that is only done if the first-tier testing is inconclusive or the doctor requests more in depth testing be completed) and they may not cover it.  Also, depending on where the families live it may not be available yet.  The problem with this, as we know, is that the earlier a child is diagnosed as being on the spectrum or having a developmental disability, the sooner they will qualify for and receive early intervention services and the sooner they may begin to show progress in their developmental skill areas.  The co-authors of the study are asking that the insurance companies not consider CMA to be a second tier test but to add it to the initial clinical diagnostic evaluation and testing.

Science Daily, which is just one of numerous publications that are publishing the study, notes in their article that further studies are needed to be done before CMA can be truly considered an accurate diagnostic tool for ASD.  In their article they state that most chromosomal changes "were unique or identified in only a small number of patients, so their implications need further study. Many of them are presumed to be related to ASDs because they involve important genes, cover a large region of the chromosome, or because the child is the first person in that family to have the change."  David Miller, MD, PhD and co-author of the research study shares that "Some deletions and duplications are rare and specific to one individual or one family. Learning about them is going to be an evolving process. There won't be one single test that finds all genetic changes related to autism, until we completely understand the entire genome."  The bottom line, it appears, is that more studies are needed before CMA can truly be considered an accurate test for diagnosing ASD but, in the mean time, it is still a more effective test for early diagnoses than the current testing available.

I know there is more information on this study and the individuals who were involved in it in the article linked above.  It is a very interesting article and if you have a few moments you might want to head over and read it for yourself, or share the link with families you feel would find it helpful.

If you have a family who lives in or near MA and would like to schedule an appointment at Boston Children's hospital, the hospital has requested that interested families contact the Developmental Medicine Center (617-355-7025) or the Department of Neurology (617-355-2711).  It is important to stress to families that they first check with their insurance company to be sure any visits and testing is covered.

As always, thanks for stopping by - hope to see you back here again.




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