A new research in stem cells carried out by researchers at Yale School of Medicine has shown that children with autism spectrum disorder (ASD) have large heads usually referred as macrocephaly. According to the study published in the journal Cell, the researchers are hoping to find the reason behind abnormal development of cerebral cortex in children with severe ASD.

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ASD is believed to begin during the development of the brain as early as the child is in the mother's fetus. Though there is no clear information on the origin and genetics of ASD, some recent researches had hinted that abnormality in cerebral cortex during the development of the fetus might be responsible for autism, reported Laboratory Equipment.

In an effort to pinpoint the problem that happens in the cerebral cortex during the development of the fetus, the researchers obtained skin biopsies from children with ASD and converted them into induced human pluripotent stem cells in order to grow them into miniature brains. Skin biopsies of the healthy fathers of the children were also obtained and developed into miniature brains for the purpose of comparison, reported Eurekalert.

Flora Vaccarino, the lead author of the study and Harris Professor of Child Psychiatry and Professor of Neurobiology at Yale School of Medicine said, "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." They also noted: "Our data provides a framework for studying normal human brain development and its disorders, including autism," reported Science World.

Vaccarino said that the brain of the children with ASD divides at a faster pace, producing more inhibitory neurons and in turn more synapses. She also noted that they observed 10 folds increase in the gene FOXG1, which is responsible for growth and development of neuron in the fetus.

"By regulating FOXG1 expression levels in patients' neural cells, we were able to reverse some of the neurobiological alterations," said Vaccarino. "Indeed, correcting the FOXG1 overexpression prevented the overproduction of inhibitory neurons in patient's cells. Remarkably, we also found a link between the extent of change in gene expression and the degree of a patient's macrocephaly and autism severity."

TagsMiniature Brain, autism spectrum disorder, ASD, Autism, Mini Brain