Research: “Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations”

Phelan-McDermid syndrome (PMS) is a disorder caused by a deletion in chromosome 22 which results in an impaired functioning of the SHANK3 gene. Individuals with PMS typically have a delay in growth and may have a concurrent diagnosis of autism spectrum disorder (ASD). A study by researchers from the Greenwood Genetic Center, Brown University, and Harvard Medical School aimed to examine the behavior of patients diagnosed with both PMS and ASD and to find any genetic correlations between the two disorders. In this study, the ADI – R and the Vineland II interviews were administered to the parents of 40 children with PMS. Researchers concluded that the size of the deletion on chromosome 22 had a significant, negative correlation to the individual’s symptoms. The results from the Vineland II and ADI – R also suggest that people with PMS are often nonverbal and display persistent deficits in social communication.