Genetic Mutations Possible Cause of Autism

While there is no singular definitive cause of autism spectrum disorders, there have been a number of tested theories and conclusions, including vaccinations, diet, genetics, and enzymes. With the increase in diagnoses of autism, being able to find a cause, as well as more effective treatments has been of paramount importance. Three new studies focus on the possibility of genetic mutation as one such cause.

According to the CDC, autism spectrum disorder (ASD) occurs in approximately 1 out of every 110 children and in all racial, ethnic and socioeconomic groups. It is four to five times more likely to occur in boys than girls. Current estimates show 36,500 born annually in the U.S. with ASD, and approximately 730,000 between the ages of 0-21 that are living with it.  

It is estimated that about 10% of children with an ASD have an identifiable genetic, neurologic or metabolic disorder, although multiple factors combine to create autism and no one factor can be held responsible for creating the disorder.

 The three studies, all published today, contain the common theme of genetic mutations, and may very well be the cause of autism in children where there has been no history of ASD in the family.

The researchers studied a region of the human genome, 7q11.23, which can produce autism if mutated.  The genomes of more than 1,000 families in which one child was autistic and the siblings and parents were not, were examined and found strong evidence that genetic mutation is responsible for autism in some cases.  

"This region of the genome could be a Rosetta Stone for studying the development of the social brain," said Matthew State, lead author of the Yale study.

Treatment for autism is varied and dependent upon a child’s needs. For information, we recommend the newly published book, Cutting-Edge Therapies for Autism 2011-2012, by Ken Siri and Tony Lyons. The sixty-seven chapters present various therapies and innovations in autism treatment. Also included are an extensive bibliography and a thorough presentation of national and international autism organizations. We also have published a listing of the Top 5 Autism-Related Organizations to turn to for information, education, and assistance.