Sign Me Up: Cleveland Clinic Launches Study to Genetically Test for Autism

I assume that someday I’ll get a call like this.

The Cleveland Clinic Children’s Hospital is launching an important new study into the genetics of autism. The goal of the study is to determine whether genetic markers can be used to identify children who are at risk for developing autism.

As a mom of not just one but two fabulous kids with autism, sign me the heck up. Because there is something funky going on with our DNA, and it should totally be studied by scientists. Or maybe aliens. But definitely at least autism researchers.

The study is designed to confirm the predictive value of established genetic markers and is a follow-up to retrospective studies that have been completed.

Thomas Frazier, PhD, of Cleveland Clinic Children’s Hospital Center for Autism, is the principle investigator for the study being funded by IntegraGen, a French biomedical company that developed the genetic panel being evaluated.

The study will enroll 600 children over the next two years.

“This is the first time anyone has done a prospective study on a combination of genetic markers to examine whether a genetic risk score is helpful in identifying children with autism,” Dr. Frazier said. “Autism is currently assessed by looking at behavioral characteristics of children.  If we can develop a genetic test to assist in the earlier diagnosis of autism, we can provide beneficial treatment that leads to improved outcomes more quickly.”

This study launches as the autism community prepares for the American Psychiatric Association’s publication of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5) in May 2013. Many experts expect the DSM  will have a huge impact on autism spectrum disorders by narrowing the criteria for autism, eliminating Asperger syndrome and PDD-NOS (Pervasive Developmental Disorder-Not Otherwise Specified).

“A genetic risk assessment tool has the potential to ensure that high-functioning individuals, who are part of the autism spectrum, continue to be appropriately identified and receive necessary treatments,” Dr. Frazier said.

Sigh. You had me at “appropriately identified,” Dr. Frazier.

Dr. Frazier’s team will also study whether genetic changes may be associated with attention deficit/hyperactivity disorder. The study will enroll 300 children between the ages of 1 and 12 who are suspected to have an autism spectrum disorder, 75 children diagnosed with ADHD, and 225 children who do not have developmental disorders.

Actual imaginary diagram of my DNA.

OMG! I have all those children! Well, not all 600, actually. But I have one with autism, one with autism and ADHD, and two who are neurotypical. Giddyup.

The genetic testing will be done in the Genomic Medicine Institute at Cleveland Clinic’s Lerner Research Institute.

Well, shoot. Turns out you need to actually be in the Cleveland area to participate; it’s not the kind of thing where the cheek swab can be mailed in. So if you’re in the Cleveland area, and you have a kid on the spectrum, you may really want to check this out. You may end up helping a whole lot of people.

A cheek swab inside the mouth will be used to collect DNA from each study participant. Additionally, parents or caregivers will be asked to complete standardized questionnaires.  Parents interested in finding out more information or enrolling their child in the study can contact the Cleveland Clinic Children’s Hospital Center for Autism’s Research Coordinator at 216.448.6493.

(Photo Credits: Doctor photo, original image by Ambro; additional nonsense by Joslyn Gray for Strollerderby.  Double Helix of Crap image by Joslyn Gray for stark. raving. mad. mommy.)

You can read more from Joslyn Gray at her blog, stark. raving. mad. mommy. You can also follow her on Facebook and Twitter.





Article Posted 5 years Ago

Videos You May Like