The Center for Disease Control and Prevention (CDC) notes that on average, autism is 4 to 5 times more likely to occur in boys than girls. Researchers and medical professionals have long pointed out the fact that there is an inconsistency among autism statistics in boys and girls, but we still know little about why exactly this is the case.
Back in 2009, scientists at UCLA’s Center for Autism Research and Treatment found clues that uncovered some genetic components that could help explain this disparity.
More recently, a number of professionals and researchers from the Molecular Neuropsychiatry and Development Laboratory (CAMH), The Centre for Applied Genomics, SickKids, McLaughlin Centre (University of Toronto), collaborated on a study that addressed this same phenomenon.
They found that males who carry specific DNA alterations on their single X-chromosome are at a higher risk for developing ASD. Upon analyzing the gene sequences of 2,000 participants with ASD, other participants with an intellectual disability, and thousands of population controls, the team found that roughly 1% of boys with ASD “had mutations in the PTCHD1 gene on the X-chromosome,” whereas sisters of these individuals with the same mutation remained seemingly unaffected .
The study was led by Dr. John B. Vincent, Director at the Molecular Neuropsychiatry and Development Laboratory (CAMH). Dr. Vincent stated:
“We believe that the PTCHD1 gene has a role in a neurobiological pathway that delivers information to cells during brain development – this specific mutation may disrupt crucial developmental processes, contributing to the onset of autism.”
While we are still uncovering a great deal about this phenomenon, there is hope that studies like this one could result in earlier detection and thus also increase the probability of early intervention.
The study was published in Science Translational Medicine and can be seen by Clicking HERE
- “Why Autism Is Found More in Boys.” HCPLive. N.p., 20 Sept. 2010. Web. 28 Sept. 2010. <http://www.hcplive.com/articles/Why-Autism-Is-Found-More-in-Boys>.