Autism & Chromosomes

By Christina Atkinson

No one knows exactly what causes autism. There are many theories and misconceptions that have been continually questioned or debunked. Autism is a genetic condition that is present at birth/conception. So why is there not a test to detect autism during pregnancy? Scientists have actually been working on this for many years. We all know that genes are found on chromosomes. Almost every cell in your body contains 23 pairs of chromosomes, 46 in all. Genes and chromosomes give the body all the information it needs to "build" a person. During our OT session last week I was speaking to our therapist and she shared something really interesting with me. Her husband is a developmental pediatrician at CHOP and specializes in Autism and Down Syndrome. She shared the following with me. Over the last ten years, scientists are zoning in on chromosome deletion and duplication for individuals with autism. So far, this is what they have found. ︎A deletion of a stretch of chromosome 16. ︎A duplication of chromosome 7 (3 instead of 2; extra copy) ︎A deletion of chromosome 15. ︎A duplication of chromosome 16 (3 instead of 2; extra copy) in some individuals ︎A duplication of chromosome 22 (3 instead of 2; extra copy) So why haven't they found the answer yet? The issue is that there is no clear cut answer. The autism spectrum is broad and there are over 150 genes scientists are working with to study. It can take many more years until autism is added to the NIPT test done during pregnancy. Our children do give us extra love, extra joy and keep us on our toes a little extra too so these discoveries don't surprise me one bit!