Yale University researchers have noticed two small differences in the development of children’s brains that have now been associated with autism spectrum disorder (ASD.) In this study, brain organoidsartificially produced small duplicates of the human brain—were made using the stem cells from boys with ASD. According to the specialists, the irregularities that have been discovered seem to be influenced by brain size. This discovery may aid physicians in diagnosing and treating ADS in the future.

“It’s amazing that children with the same symptoms end up with two distinct forms of altered neural networks,” said Co-Senior Author on the study Dr. Flora Vaccarino.

Stem cells were collected from 13 boys who have been diagnosed with Autism, eight of which also have Macrocephaly. About 20% of autism patients have Macrocephaly, which is when a newborn’s head size is in the 90th percentile or above. The specialists developed Organoids, which are tiny three-dimensional models of the growing brain that imitate how it would develop in the fetus. The data from that was then cross-referenced with the brain development of the children’s fathers. The study revealed that those with autism as well as macrocephaly showed a larger number of easily stimulated neurons when compared to their fathers. This is interesting because the organoids of the children with only ASD showed a deficit of the same neurons when compared to their fathers.

The ability to monitor the development of particular types of neurons may aid medical professionals in correctly diagnosing autism, whose symptoms typically manifest 18 to 24 months after birth. The experts note that building patient-derived stem cell biobanks may be useful in the development of personalized medicine, or the tailoring of treatments to particular patients. The results were released on August 10 in the magazine Nature Neuroscience.

Journal Reference:

  1. Alexandre Jourdon, Feinan Wu, Jessica Mariani, Davide Capauto, Scott Norton, Livia Tomasini, Anahita Amiri, Milovan Suvakov, Jeremy D. Schreiner, Yeongjun Jang, Arijit Panda, Cindy Khanh Nguyen, Elise M. Cummings, Gloria Han, Kelly Powell, Anna Szekely, James C. McPartland, Kevin Pelphrey, Katarzyna Chawarska, Pamela Ventola, Alexej Abyzov, Flora M. Vaccarino. Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis. Nature Neuroscience, 2023; DOI: 10.1038/s41593-023-01399-0
  2. Yale University. “Scientists reveal two paths to autism in the developing brain.” ScienceDaily. ScienceDaily, 10 August 2023. <www.sciencedaily.com/releases/2023/08/230810110412.htm>.