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Tuesday, April 19, 2011

Autism: Finding the Cause Gets Us One Step Closer to the Cure

boy with autism

Photo: iStockphoto

Just about every family, now, has been touched by autism. If it’s not your children, it’s another child in their classroom, or a child on your block. About 1 in 110 to 1 in 160 children has some degree of autism. One “silver lining” of this increased familiarity with autism will hopefully be an improvement in parents’ perceptions: these are good kids. With therapy (especially starting early), most children with mild-to-moderate autistic spectrum disorders can expect significant improvement, and will do well.

Symptoms of autism can be noticed before age one, though the diagnosis isn’t usually firmly established until later. The main manifestations are decreased verbal communication, repetitive movements, and problems with social interactions (the degree and severity of these three “cardinal features” can vary quite a bit between children. That’s why autism is now considered a broad “spectrum”.)

The cause of autism has been difficult to pin down, but good recent research is helping us understand multiple genetic influences. About 20% of autistic children who undergo state-of-the-art genetic testing will have a known genetic problem that has been firmly linked to autistic behaviors — and this 20% figure is increasing year by year as more studies find further genetic markers. It’s not all in the chromosomes and genes, though. We also know that complications from birth and some congenital infections (including rubella, which ironically can be prevented with the MMR vaccine) also cause autism. As with other complicated diseases, there will not be one single cause, nor one single cure.

An exciting new development in autism research is the confirmation that at least some of these genetic problems, when bred in mice, can lead to autistic behaviors in those animals, too. Being able to “model” autism in an animal will not only allow for better development and testing of treatments, but will also get us closer to understanding exactly what those gene mistakes do in the body. Understand the gene, then understand the function; understand the way the function is broken, then understand how to fix it. It is not quick science, but it’s how we’re going to defeat this disease.

Families touched by autism may be frustrated by the slow pace of science. But take heart: effective treatments (at least for mild-to-moderately affected children) are available, though it is a long, expensive process. Better prevention strategies, earlier identification of cases, and more-effective and quicker treatments (especially for more severe cases) are sorely needed, and will take time to develop. But there has been good progress, and there should be plenty of hope.

- Roy Benaroch, MD

Posted by: Roy Benaroch, MD, FAAP at 9:48 am

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