Unraveling Autism Piece by Piece

Harvard researchers have added six missing pieces to the bewildering condition that is autism. The bigger news is that these genes suggest that the disorder “strikes in a brain that can't properly form new connections.” In other words, specific genes that respond to experiences are actually still present in the autistic patients, but can be described as being in the “off” position. This finding illustrates why some autistic children in specialized educational programs respond well — sometimes they get a little extra push and the genes switch to the “on” position. Lead study author, Dr. Christopher Walsh, knew that genes played a large role in autism based on previous studies on twins and families with multiple affected children. However, Walsh estimates that the genetic cause for the condition is only determined about 15% of cases. With this in mind, Walsh decided that he should take his team to the Middle East, where large families and marriages between cousins are rampant – and therefore much more likely to have rare genes and children with autism – to help shine some light on the genes related to autism.

In the families that Walsh’s team investigated, there were large chunks of missing DNA regions that varied from family to family, but affected at least “six genes that play a role in autism.” This finding was significant because the genes seem to be part of a network that lays the foundation for learning and affect how neurons in the brain respond to new experiences by forming connections with one another. This adds to growing evidence that autism may, in fact, be a synaptic disorder, although much still remains to be understood. The good news about the study is that the missing DNA that Walsh’s team determined did not always result in missing genes. In those instances, the genes were described as being asleep, which meant that they could be activated through intensive therapies involving repeated stimulation.

Autism is a fascinating condition that still remains to be figured out, but science is getting closer. Walsh’s study is one of many to uncover autistic traits and the importance of genetics; hopefully, over time, these studies will continue to help explain how autism is developed.

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