Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.

Doctors scanned one 17-year-old boy. He had autism and a rare 7q11.23 duplication. They used functional MRI to see how his brain worked. They also measured his total brain size.

The boy’s limbic system was quiet during tasks. His whole brain was bigger than expected. These signs are the mirror image of Williams syndrome, where the same piece of chromosome is missing.

Lew et al. (2017) looked at Williams syndrome brains. They found fewer neurons in the prefrontal cortex. Paolo’s case shows the opposite: more brain volume with the duplication. Same chromosome spot, opposite effect.

Xu et al. (2020) scanned many people with autism. They saw weak links in the middle temporal gyrus. Paolo’s single case also shows limbic hypo-function, adding one more data point to the autism brain map.

Peters et al. (2013) used fMRI to show that PRT can wake up social brain areas in two preschoolers. Paolo’s baseline scan gives clinicians a before picture that future therapy scans can be compared against.

If you work with teens who have both autism and 7q11.23 duplication, expect bigger brains and quiet limbic activity. Track social goals carefully; these neural clues say social wiring is atypical. When you write behavior plans, add brain-based rationale for parents and doctors.