Macrocephaly, an abnormally large cranium, is a common physical trait in children with severe autism spectrum disorder (ASD).
This physical sign has traditionally been used by doctors to predict the onset of autism, but a new stem cell study conducted by researchers at the Yale School of Medicine may be able to better predict ASD, leading to earlier diagnosis and new medications for treatment.
The Confusing Origins of Autism Spectrum Disorder
Whilst ASD is known for first making itself apparent during the development of the brain during childhood, the origins of this common disorder are still as of yet unknown in most cases. Without a clear origin or genetic basis for researchers to use as a starting point, it has proven extremely difficult to pinpoint autism’s origins.
Recent studies of ASD genetic mutations have pointed to the abnormal development of the cerebral cortex during the foetal period though decisive findings have proven elusive.
Using Stem Cells to Simulate Cerebral Cortex Development
Research the Yale team conducted is revolutionary and has excited many members of the medical and scientific communities.
The research involved the simulation of early cerebral cortex development by using stem cells that were generated from skin biopsies of four patients, all of whom were diagnosed with ASD. The stem cells were then grown into 3D simulated miniature human brains known as ‘brain organoids’.
Once grown, these ‘miniature brains’ were then studied by comparing the developing cell types and gene expressions between the patients with ASD and members of their family without ASD.
Brain Development in Children with ASD
Dr Flora Vaccarino, the study’s lead author and Professor of Neurobiology at Yale School of Medicine, says the research shows that abnormalities in the growth cycle of the brain, including accelerated cell cycles, synaptic overgrowth and the overproduction of inhibitory neurons, may be signs of the brain development that children with severe ASD experience.
She explained that the research has created a framework in which it’s now possible to study the development of the human brain, as well as disorders such as autism.
One of the study’s most important findings was the 10-fold increase in the ‘FOXG1’ gene in ASD patients, a gene which plays an important role in the early development and growth of neurons in the foetal brain.
Vaccarino believes that FOXG1 could be used as a possible molecular signature or biomarker that would enable them to pinpoint ASD early on and could also be used as a potential drug target. This would enable autism medications to be produced and could change the lives of millions for the better.
