Brain ‘Organoid’ Study Sheds Light on Autism Origins

Brain 'Organoid' Study Sheds Light on Autism Origins

Unveiling the Secrets of Autism Spectrum Disorder: Insights from Lab-Grown Brain Replicas

Autism Spectrum Disorder

Researching autism spectrum disorder has always been challenging due to its complexity and the distinct variations displayed by individuals with the disorder. However, groundbreaking research conducted at Yale University, utilizing three-dimensional replicas of developing brains grown in a lab dish, has shed new light on the condition.

Led by Dr. Flora Vaccarino, director of the program in neurodevelopment and regeneration at the Child Study Center at Yale School of Medicine, the study discovered two distinct paths to autism in the developing brain. The significance of this finding lies in the fact that children presenting with the same symptoms can end up with different forms of altered neural networks. This new understanding of autism’s intricacies may hold the key to more accurate diagnoses and targeted treatment approaches in the future.

The abnormalities associated with autism emerge within weeks of the start of brain development, according to the research. The size of a child’s brain appears to dictate the nature of these abnormalities. More specifically, the study suggests that the emergence of autism is linked to either excessive growth or a deficit of excitatory neurons, which are responsible for firing messages in the brain. In simple terms, excitatory neurons play a pivotal role in critical brain functions such as thinking, learning, and memory. The ability to track the growth of these neurons could be a breakthrough in autism diagnosis, as symptoms typically manifest between 18 to 24 months after birth.

To conduct this landmark study, researchers obtained stem cells from 13 boys diagnosed with autism. These stem cells were then used to create brain organoids, lab-grown replicas of the developing brain that mimic neuronal growth in the fetus. The study participants were recruited from clinicians at the Yale Child Study Center. Interestingly, eight of the boys had macrocephaly, a condition characterized by an enlarged head. Macrocephaly is found in about 20% of autism cases and tends to be associated with more severe forms of the disorder.

Compared to their fathers, the brain organoids of children with autism and macrocephaly exhibited excessive growth of excitatory neurons. On the other hand, the brain organoids of children with autism but without macrocephaly showed a deficit of the same type of neurons. These findings not only deepen our understanding of the complex interplay of factors contributing to autism but also hint at the potential of using existing drugs that reduce excitatory neuron activity, such as those used in epilepsy treatment, to alleviate symptoms in specific cases. However, it is crucial to note that this potential treatment avenue may be more effective for individuals with enlarged brains, while those without macrocephaly may require alternative approaches.

As the research progresses, the authors underline the importance of creating biobanks of stem cells derived from patients. By having access to patient-specific stem cells, scientists can tailor therapeutics to individual cases, offering a much more effective and personalized approach to treatment.

This groundbreaking research, published in Nature Neuroscience on August 10, 2023, is a significant stride forward in unraveling the mysteries of autism spectrum disorder. With a better understanding of the different paths to autism in the developing brain, experts and clinicians are now armed with valuable insights to guide their efforts in diagnosing and providing targeted treatments for individuals on the autism spectrum.



Autism is a developmental disability.


Answer: True

For more information on autism spectrum disorder, you can visit the U.S. National Institutes of Health’s website.

Source: Yale University, news release, Aug. 10, 2023