CHB Logo Excess neurons in the brain seem to be the underlying cause of diseases like autism. But, certain differences in brain connections may also be a manifestation of the disease, according to scientists from Children’s Hospital Boston.

The study also highlighted the probability of abnormalities in myelin which is the fatty substance building white matter in the brain and is responsible for signaling too. For the analysis, 40 patients aged from infancy to 25, were exposed to MRI scans.

These participants suffered from tuberous sclerosis complex and were pitted against 29 control subjects who were healthy. Tuberous sclerosis is a condition characterized by cognitive and behavioral impairments which is inclusive of autism spectrum disorders (ASD).

“Patients with tuberous sclerosis can be diagnosed at birth or potentially before birth, because of cardiac tumors that are visible on ultrasound, giving us the opportunity to understand the circuitry of the brain at an early age. Our ultimate goal is to use imaging in infancy to find which tuberous sclerosis patients are at high risk for autism so we can intervene early. This may have implications for autism in patients without tuberous sclerosis as well,” commented Mustafa Sahin, MD, PhD, of the Department of Neurology.

As per the outcomes, patients with the aforesaid condition and ASDs seemed to have increased radial diffusivity which implied low myelin insulation and unnaturalness in the white matter. This was something not found in the brains of patients devoid of ASD or the control group. Moreover, the afflicted participants also appeared to have disoriented axon pathways.

The same results were replicated in a set of mice too. However, the scientists identified a biochemical molecular pathway namely mTOR pathway, which contributed to myelin impairment. A specific mTOR-inhibiting drug rapanycin apparently reversed the condition in mice.

The team concluded that imaging plays an important role in the process of treatment for ASDs and other such cognitive disorders. The analysis is published in the journal, Academic Radiology.