Episode Details
Back to Episodes7. What causes autism w/ Dr. John Constantino and why genetic testing is so important
Description
What causes autism? Why are there so many more boys than girls with autism? And why is it so important to make sure that children with autism have genetic testing?
We discuss this with our guest, Dr. John N. Constantino, child and adolescent psychiatrist and international expert in Autism Spectrum Disorder.
* Boys tend to be more sensitive than girls to genetic risk for autism.
*GENES CAUSE AUTISM
** 3/4 of the genetic risk is inherited
---- mainly polygenic risk, which means it requires multiple different gene hits to be involved
----- also rarely some chromosomal rearrangements
**1/4 of genetic risk is NOT inherited
---- due to de novo or germline mutations: DNA changes in the sperm or the egg that makes the baby, that are NOT present in the parents, but are just in the child.
** It's so important to follow the American College of Medical Genetics recommendations and get genetic testing for our kids with known diagnosis of autism so that we can better understand what caused their form of autism.
About Dr. John Constantino: His research focuses on understanding genetic and environmental influences on autism spectrum disorder and their implications for treatment and prevention. He developed a well-validated, normed instrument to assess impairments in social-communication skills called the Social Responsiveness Scale (SRS-2). He currently serves as Chief of Behavioral and Mental Health at Children’s Hospital of Atlanta. He has been recognized for his work by numerous awards including the prestigious George Tarjan Award from the American Academy of Child and Adolescent Psychiatry for significant contributions to the understanding and care of those with developmental disabilities.
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