Reviewed by John M. Grohol, Psy.D. on May 17, 2011
A new research study discovers several sporadic genetic mutations in children with autistic spectrum disorder.
University of Washington researchers used new molecular biology techniques to discover the mutations. The research is published online in the journal Nature Genetics.
Dr, Brian O’Roak and colleagues analyzed the genetic makeup of 20 individuals with autism spectrum disorder and their parents.
Autism spectrum disorders encompass a range of social impairments in language, communicating and interacting with others, repetitive behaviors, and engrossing fascinations. The condition can be mildly to severely disabling.
The researchers found 21 newly occurring mutations, 11 of which altered proteins. Proteins altered by genetic mutations may hold clues to the biological pathways involved in the development of the disease. The abnormal proteins or the pathways they affect could draw interest as targets in the design of preventive or treatment drugs.
In four of the 20 families studied, O’Roak and colleagues identified disruptive new mutations that are potentially causative for autism. In examining the clinical data on the child in each of the four families, they learned that these children were among the most severely affected of the study group, both in intellectual disability and in their autistic features.