Autism: Miniature Brains From Skin Cells Reveal Insights Into Behavioral Health Issue

Health officials are still working to understand diseases like autism and schizophrenia as well as how they affect the development of the brain. New research published in the journal Cell reveals that a larger head size--or macrocephaly--is oftentimes seen in children with severe autism spectrum disorder (ASD). 

Researchers at the Yale School of Medicine conducted a new stem cell study of children with severe ASD showing how macrocephaly may help to predict the behavioral health issue as well as lead to new treatments for autism.

Previous studies have shown that ASD appears during brain development. Yet most cases of the disorder lack a clear origin or genetic basis. More recent findings suggest that the development of the cerebral cortex during the fetal period is abnormal in patients with the behavioral health issue. 

"Brain growth abnormalities such as accelerated cell cycles, overproduction of inhibitory neurons, and synaptic overgrowth may all be precursors of a trajectory of brain development found in children with severe ASD," said the study's lead author Flora Vaccarino, the Harris Professor of Child Psychiatry and Professor of Neurobiology at Yale School of Medicine. "Our data provides a framework for studying normal human brain development and its disorders, including autism."

For the study, researchers simulated early cerebral cortex development with the help of stem cells generated from skin biopsies of four patients with ASD. The stem cells were grown into three-dimensional simulated miniature human brains, in which researchers compared gene expression and developing cell types between the patients and family members without ASD.

"This study speaks to the importance of using human cells and using them in an assay that could bring a better understanding of the pathophysiology of autism and with that, possibly better treatments," she concluded, in a news release. 

Researchers noted that with current technology, human brain organoids are only able to recapitulate early stages of development. However, researchers are working with their data to examine certain mutations and epigenetic changes responsible for gene expression alterations and neuronal imbalances that may provide further insights into disease mechanisms. 

Related Articles

Researchers Have Found A New Language Delay In Children With Autism

For more great science stories and general news, please visit our sister site, Headlines and Global News (HNGN).