Another Awkward Conversation...

I had a wonderful time working the Autism Votes booth at the yearly Autism Speaks walk in Honolulu yesterday.  I met so many terrific people, all in some way connected to autism.  Of course, with 1 in 88 children now affected, it’s hard NOT to know someone who is in some way impacted. 

I started up a conversation with a man who has a 5 year old autistic son, and they have a new baby. “Boy or girl?” I ask with intent. “A boy”, he said, in somewhat hushed tones, knowing exactly what I was getting at. For reasons still unknown, autism now affects almost 5 times as many boys as girls—1 in 54 boys are now diagnosed with autism, and chances of having an autistic child when parents already have one child on the spectrum is 20%, or 1 in 5. 

I oohed and aahed over his adorable little guy as the proud dad told me he was very alert and social, an indirect way of assuring me—or more likely, himself—that this beautiful baby did not, could not have autism.

So why are boys significantly more frequently afflicted with autism than girls?  I saw a presentation of an interesting theory last fall by Dr. Valerie Hu from George Washington University.  Dr. Hu, a molecular biologist who has specialized in researching causes and possible medical treatments for autism, is also the mother of an autistic son. 

She has published the results of a study that found male and female sex hormones regulate expression of an important gene called “RORA”. This gene encodes a protein that works as a master switch for gene expression, turning genes on and off.  RORA is critical in cerebellum development as well as other processes impaired in autism. Dr. Hu’s research found RORA was decreased in the autistic brain, and a protein called aromatase that is regulated by RORA is also reduced in autistic brains.

Aromatase converts testosterone to estrogen; therefore a decrease in aromatase could result in increasing levels of testosterone, further decreasing RORA expression. Dr. Hu believes girls might be more protected against RORA deficiency because of the effects of estrogen. 

A promising theory…but I’m not a molecular biologist.  I’m just a mom who was holding an adorable baby boy wondering if he would be 1 in 54.