Genetic Discoveries Explain the Sex Bias we see in Autism

Having almost 2,250 individuals, researchers found a copy number variant or PTCHD1 mutations linked with 1% of the individuals with ASD (Autism Spectrum Disorder) which begins to make clear why more boys are being diagnosed than girls in the complex world of autism.


• Autism spectrum Disorder = aprox. 2000 individuals

• Intellectual Disabilities = 246

Autism Voice President for Scientific Affairs (Andy Shih, Ph.D.) explains that the PTCHD1 is located on the X-chromosome, Boys have one copy of this chromosome where girls have 2 copies so if anything were to affect the x-chromosome in boys, and they would not have a back up whereas girls do.

It is believed that the problem lies in the pathway that delivers information to the cells during brain development, the same pathway that determines the development of human embryos. They also believe that the PTCHD1 plays a role in delivering this information and may disrupt crucial developmental processes which could contribute to the onset of autism, said Dr. John B. Vincent, in so many words.

Dr. John B. Vincent = (Senior Scientist and head of the Centre for Addiction and Mental Health (CAMH) Molecular Neuropsychiatry and Development Laboratory who led the study.

To read more follow this link:

http://www.medterms.com/script/main/art.asp?articlekey=11747

Also found here on CBC News:

http://www.cbc.ca/health/story/2010/09/15/autism-males-genetics.html

or watch it here!
http://www.cbc.ca/video/player.html?category=News&zone=health&site=cbc.health.ca&clipid=1592404742