In one of the largest-ever studies of genetics and autism, researchers have identified 24 new gene variants associated with autism spectrum disorders (ASD). The work also confirms that 31 variants previously linked to the developmental disorder may serve as useful genetic markers for identifying those with the condition.
Understanding autism’s genetic roots is a critical step, experts say, because it can result in earlier diagnosis and behavioral intervention — which, ideally, can improve patient outcomes.
The goal of the study was to track down genetic markers of autism, and to that end, the Center for Applied Genomics at The Children’s Hospital of Philadelphia collaborated with scientists from the University of Utah and the biotechnology company Lineagen, Inc. In some autism patients, researchers found additional copy number variations (CNVs), which are missing or duplicated stretches of DNA. These CNVs are described as “high impact”: each has a strong ability to raise an individual’s risk for autism.
Some of the methods parents use to help their children develop with autism is online speech therapy or telepractice. To learn more, read what fellow parents are saying about their child’s success with online speech therapy.
Source: The Stir