Buxbaum Laboratory

In children with Phelan-McDermid syndrome, greater specialized “social brain” activity along the superior temporal sulcus (STS; left) and in the medial prefrontal cortex (MPFC; right) was associated with better orienting toward social sounds measured outside the scanner.

Seaver Autism Center researchers are the leading experts on Phelan-McDermid syndrome (PMS), a rare genetic syndrome which is associated with autism spectrum disorder (ASD). Researchers here have recently published two studies on this syndrome.

The first study appeared in the Journal of Neurodevelopmental Disorders, and it examined the differences in brain function between individuals affected by PMS and those with idiopathic ASD. The researchers found that children with PMS responded differently to communicative vocal sounds than children with idiopathic ASD, despite both groups possessing similar clinical characteristics. Click here to learn more.

The second study was published in the Journal of Autism and ‪Developmental Disorders‬, and it compared sensory reactivity in children with PMS to children with idiopathic ASD. This study is the first to demonstrate differences in sensory reactivity between children with PMS and idiopathic ASD, helping to refine the PMS phenotype. Click here to read more.