The number of children with autism continues to rise, especially among children in the United States, where 1 in 68 children is diagnosed with autism. For several years, scientists have been trying to find the possible cause of Autism Spectrum Disorder (ASD). The complex condition can be a secondary to a genetic predisposition or environmental factors, and some even falsely believe that it can be due to vaccines.
Scientists from the University of Cambridge have finally found that there are specific genes which may be responsible for the individual variations in the brain structures of children with autism. While there have been previous studies that support differing brain anatomy in children with autism, this is the first time that specific genes have been identified.
Cortical Thickness and Gene Activity
By analyzing the MRI brain scans of 150 children, the team of scientists from the Autism Research Centre of University of Cambridge analyzed the cortical thickness in relation with the gene activities in the brain. They found that autistic children have differences in the thickness of their cortex and have set of genes known as the “Synaptic Transmission” in component 1 (PLSR1) that shows lower gene activity at the molecular level.
“This takes us one step closer to understanding why the brains of people with and without autism may differ from one another. We have long known that autism itself is genetic, but by combining these different data sets (brain imaging and genetics) we can now identify more precisely which genes are linked to how the autistic brain may differ,” said lead researcher Dr. Richard Bethlehem. He added that their findings can be a good starting point towards understanding the complexity of autism.
While the results of the study is a welcome finding for both scientists and parents of children with autism, there is still more work to be done to finally overcome the difficulties associated with autism. Co-researcher Varun Warrier, a post-doctoral student, said that more studies using brain scan and genetic data should be done to identify accurately how specific gene activities affect the brains of children with autism.
Researchers added that the study just shows how important a multidisciplinary approach is in understanding autism.
The study is published in Molecular Psychiatry on Feb. 26.
Surplus of Brain Synapses
This present research can be associated with an earlier report published in Neuron which found children with autism have an excess of synaptic connections between their brain cells. The surplus of synapses can be a result of a halt in the regular pruning process during brain development.
Another study has found that changes in the cortical thickness during normal brain development can be linked to complex cellular and molecular processes such as pruning and cell death. This shows that indeed morphological changes in the brain anatomy can be linked to autism.
The Stigma of Autism
Part of this multidisciplinary approach in addressing autism is the spreading of awareness about the disorder. Dr. Geraldine Dawson, director of the Duke Autism and Brain Development Center, stated that despite recent advancements in autism research, there still remains the stigma, which significantly affects the availability of healthcare, education, and employment for those with autism.