April 30, 2024
This study investigates how certain genetic disorders, called RASopathies, affect the structure of the brain in children. RASopathies are conditions caused by mutations in a specific signaling pathway in the body. Two common RASopathies are Noonan syndrome (NS) and neurofibromatosis type 1 (NF1), both of which are linked to a higher risk of autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD).
The researchers analyzed brain scans of children with RASopathies (91 participants) and compared them to typically developing children (74 participants). They focused on three aspects of brain structure: surface area (SA), cortical thickness (CT), and subcortical volumes.
The results showed that children with RASopathies had both similarities and differences in their brain structure compared to typically developing children. They had increased SA in certain areas of the brain, like the precentral gyrus, but decreased SA in other regions, such as the occipital regions. Additionally, they had thinner CT in the precentral gyrus. However, the effects on subcortical volumes varied between the two RASopathies: children with NS had decreased volumes in certain structures like the striatum and thalamus, while children with NF1 had increased volumes in areas like the hippocampus, amygdala, and thalamus.
Overall, this study highlights how RASopathies can impact the development of the brain in children. The shared effects on SA and CT suggest a common influence of RASopathies on brain development, which could be important for developing targeted treatments in the future.
In summary, understanding how these genetic disorders affect the brain's structure can help researchers and healthcare professionals develop better treatments for affected children.
McGhee CA, Honari H, Siqueiros-Sanchez M, Serur Y, van Staalduinen EK, Stevenson D, Bruno JL, Raman MM, Green T. RASopathies influences on neuroanatomical variation in children. Biol Psychiatry Cogn Neurosci Neuroimaging. 2024 Apr 13:S2451-9022(24)00103-4. doi: 10.1016/j.bpsc.2024.04.003. Epub ahead of print. PMID: 38621478.