Autism (ASD) is a neurodevelopmental disorder that is characterized by social and communication interaction difficulties, along with repetitive and restrictive behavioral patterns. About 15-20% of ASD cases are a result of specific genetic mutations while most ASD cases don’t show genetic causation.

Scientists from Rutgers examined stem cells from patients with autism spectrum disorder (ASD) and found evidence of irregularities in early stage brain development. The belief is that these differences may be a contributing factor in this neuropsychiatric condition.

The findings of the study supports the belief that has permeated the scientific community for years, that brain changes relevant to ASD appear in early stage fetal development. The formation of a functioning brain happens early on in the fetal development of a human being. It is in this window of time that scientists have long thought many cases of ASD first develops.

The study conducted by Rutgers scientists and headed by Emanuel DiCicco-Bloom, a professor of neuroscience and cell biology, and pediatrics at Rutgers Robert Wood Johnson Medical School, examined active brain stem cells, also known as neural precursor cells (NPC’s). It is established that NPC’s are responsible for making three primary types of brain cells, neurons, oligodendrocytes, and astrocytes. But what the study showed was a correlation of the underproduction or overproduction of NPC’s in the development of ASD. While in the period when the brain is first forming what would become permanent brain cells.

“The NPC’s we studied from all the samples showed abnormal proliferation, either too little or too much, which suggests that poor control of proliferation of brain cells in an important basis for ASD causation,” said, Emanuel DiCicco-Bloom. “ This study demonstrates at the cellular level that altered proliferation is indeed one likely mechanism of the disorder, supporting implications obtained from previous research.”

NPC’s are formed prenatally from the end of the first trimester to the second. Or about 8-24 weeks of the normal 40 week gestation period of a human fetus.

The small sample study looked at the active stem cells of five individuals with ASD, with both genetically determined condition and with no genetic indicators. They found that those that produced too many NPC’s had a larger sized head (macrocephaly) and the other two patients without the macrocephaly produced too little NPC’s.

This fascinating revelation once again points science in the direction of early genetic prenatal involvement in the development of autism.

“We’ve actually measured proliferation of human neural precursors and greatly advanced our understanding,” said DiCicco-Bloom. “In the future, once we have reproduced these studies and extended them, we also may be able to use this knowledge as a biomarker, which could signal when to use therapy, or to identify signaling pathways to target with drugs.”

Let’s all hope that the future of science dares to dig yet deeper into the genetic indicators related to autism spectrum disorder causations utilizing our ever advancing technology that lead to better treatment options and health outcomes for those with ASD.

https://doi.org/10.1016/j.stemcr.2022.04.019

-A Balanced Brain is a Better Brain-