March 9, 2011

One Step Closer to Understanding Autism

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Researchers identify genetic variations associated with increased risk of autism

(dailyRx News) The causes and risk factors of autism spectrum disorders remain largely unknown. Be that as it may, researchers recently uncovered new information about the genetic roots of the disorders.

A team of researchers from around the United States discovered several new genes and genomic variants that may contribute to the development of autism. Even though these gene alterations are fairly rare, they appear to mainly isrupt other genes that are important for brain development and nerve signaling.

dailyrx Insight: Your child's genes play a huge role in developing autism.

According to senior author Peter S. White, Ph.D., a molecular geneticist and director of the Center for Biomedical Informatics at The Children's Hospital of Philadelphia, this study is the first to show a significant connection between genomic variants in autism and both synaptic function (how nerve cells communicate with other nerve cells) and neurotransmission (how chemical messengers carry the signals of nerve cells).

In two sinvolving more than 1,500 autistic children, researchers compared the genetic makeup of children with autism to the genetic makeup of healthy children. The researchers were looking for specific gene variants (called copy number variations, or CNVs) that appear in the genomes of autistic people and their families, but not in the healthy children.

Rather than looking for smaller genetic alterations that are associated with risk for autism (as past researchers have done), Dr. White and colleagues considered whether groups of genes (these CNVs) were related to an increased risk of autism.

They found that the CNVs that they identified did play an important role in brain development. As such, co-author and child psychiatrist Josephine Elia, M.D., hopes that these genes will provide information on how to develop new ways to diagnose and treat children with autism.

As these research findings were supported by two different studies of human subjects as well as mouse models, the researchers are confident that these genetic variations and the pathways with which they are associated are prime targets for further research. Finding out more about the role of these genetic variations could lead to gene-based diagnostic tests and even drug treatments. However, because of the number of genes involved, researchers face a much bigger challenge than if only a few genes were involved, adds Dr. White.

In the United States, the prevalence of autism spectrum disorders is increasing. However, it is unclear whether the increased rates of autism are due to broader definitions of the disorder, improved diagnostic testing, or an actual increase in the incidence. An average of one in 110 children have an autism spectrum disorder.

Although there is not a single protocol that works for treating all children with autism, many autistic children respond well to highly structured behavioral programs. Some recommended behavioral interventions include applied behavioral analysis, floor time therapy, speech therapy, sensory integration therapy.

The results of the research by White and colleagues is published in the journal Molecular Psychiatry.

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Last Updated:
March 10, 2011