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A recent Yale-led study utilized brain organoids derived from the stem cells of boys diagnosed with autism spectrum disorder to identify two specific neurodevelopmental abnormalities linked to the disorder. These abnormalities manifest shortly after the onset of brain development.

Abnormalities associated with nature of brain size

According to researchers, the nature of abnormalities in children with autism appears to be linked to their brain size. This discovery has the potential to aid in the future diagnosis and treatment of autism. The results of this study were reported in the journal Nature Neuroscience.

Dr. Flora Vaccarino from Yale School of Medicine, the co-senior author of the study, said that it was amazing how children displaying similar symptoms exhibit different types of modified neural networks.

Yale researchers utilized stem cells from 13 boys, including eight with macrocephaly (enlarged heads) and autism, to generate brain organoids resembling fetal brain growth. These were compared to the brain development of their fathers. The study involved participants recruited from the Yale Child Study Center, which focuses on enhancing comprehension of child and family health issues through research, service, and training.

Approximately 20% of autism cases include individuals with macrocephaly, where a child’s head size is in the top 90th percentile at birth. These cases often have more severe autism symptoms. Researchers discovered that children with both autism and macrocephaly show heightened growth of excitatory neurons compared to their fathers. Conversely, other autistic children’s brain organoids displayed a shortage of these neurons.

Monitoring development of certain neurons could in autism detection

Researchers suggest that monitoring the development of particular neuron types could aid in the early detection of autism, a condition typically manifesting its symptoms between 18 to 24 months post-birth.

The results could also aid in the detection of autism instances that could potentially gain advantages from established medications developed to improve the indications of conditions characterized by heightened activity of excitatory neurons, akin to epilepsy. Vaccarino expressed that individuals with autism who exhibit macrocephaly might experience positive effects from these medications, whereas those lacking enlarged brains might not encounter the same benefits.