Autism spectrum disorder (ASD) is a range of complex neurodevelopment irregularities, characterized by social impairments, communication difficulties and restricted and repetitive patterns of behavior. Autistic disorder, sometimes called autism or classical ASD, is the most severe form of ASD. Other conditions along the spectrum include a milder form known as Asperger syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified (usually referred to as PDD-NOS). Although ASD varies significantly in character and severity, it occurs in all ethnic and socio-economic groups and affects every age group. Experts estimate that one out of 88 children at the age of eight will have an ASD. Males are four times more likely to have an ASD than females.
The hallmark feature of ASD is impaired social interaction. As early as infancy, a baby with ASD may be unresponsive to people or focus intently on one item to the exclusion of others for long periods of time. Additionally, a child with ASD may appear to develop normally and then withdraw, becoming indifferent to social engagement.
On October 26, 2014, the medical journal Nature published two studies identifying 60 genes with a more than 90 percent chance of increasing a child’s autism risk. Earlier research had discovered only 11 genes confirmed with the same level of accuracy.
Researchers say the 60 genes are found in three key locations:
- Synapses (responsible for nerve communication)
- The area responsible for creating genetic instructions
- DNA packaging within cells
Each of these areas could be responsible for the creation of traits commonly associated with autism. Dr. Matthew State, chairman of the Department of Psychiatry at the University of California, San Francisco and co-author of both studies pointed out that the most important thing to deduce from the studies is new knowledge. Rather than focusing on environmental causes, these studies are zeroing in on what happens inside the brain.
The type of genetic research use in this study has been used to treat many disorders and diseases, but had never before been applied to psychiatric disorders. When childhood leukemia was researched in this manner, it changed from a nearly always fatal disease to a treatable, often curable disease. State said, “It’s the understanding of biology at that level that’s helped treatments for cancer. It’s something we’ve been missing in psychiatric disorders in general. They lay the groundwork for a transformed understanding of the disorder and hopefully a transformation of how we’re able to diagnose and treat it.”
Autism is a complex disorder and has been difficult to treat because it is so poorly understood. Thankfully, studies such as this one are a step in the right direction. Scientists believe studying the genetic foundation of the disorder may enable them to provide more personalized treatment based on the patient’s unique genes.
Dan Smith, senior director of neuroscience at the advocacy organization Autism Speaks said, “I think that if everybody were to be genotyped when they’re diagnosed, the more this is studied, the more we’ll be able to say what the biological causes are and we can target your symptoms with more personalized medicine.”
In addition to potentially improving autism treatment, the study gives hope for autism prevention. A selection of the genes studied were “de novo genes,” which are genes there were not inherited from either parent, but developed in the egg or sperm shortly before conception. Further studies could determine what environmental factors cause these “de novo genes” to mutate.
Dr. State said, “This is going to begin to give us an opportunity to study the interactions between genes and environment. The rate of new mutation increases with age, specifically fathers, because a lot of these mutations are in sperm.” Dr. State is optimistic about the future and what the studies can contribute: “The big difference is that five years ago, we had no idea. When you have no idea, you have no opportunity to think in a systematic or rational way to develop treatment. We can finally say something really concretely about a large number of genes that contribute to risk.”
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Written by Sovereign Health Group writer Veronica McNamara.