Neuroimaging abnormalities among 10 individuals with Phelan-McDermid Syndrome

Authors

• A Hehn
• O Remsberg
• E Gordon-Lipkin
• C Farmer
• A Thurm

Abstract

Phelan-McDermid Syndrome (PMS) is a rare genetic condition caused by either a mutation or deletion in the 22q13 region of chromosome 22 (Phelan et al., 2024). This condition has a broad phenotype, which may include neurologic diagnoses (Frank 2021). Given the frequency of neurologic diagnoses, it is important to develop a better understanding of the underlying structural differences in the CNS that may play a role in the pathophysiology. To date, only two studies have reported neuroimaging abnormalities in individuals with PMS. The goal of the current study is to add to this limited literature.

The included participants were part of an ongoing multisite natural history study of PMS (NCT03426059; 15-M-0139). Brain MRI was not a part of the main assessment battery but was performed if clinically indicated. Ten participants received a brain MRI at the NIH Clinical Center during one of their study visits. Each MRI report was reviewed for the presence of any abnormality.

In this cross-sectional case series, the type, location, and frequency of abnormalities on brain MRI across the ten participants will be summarized in text, alongside anonymized brain MRI images.

This study adds to the nascent literature about a rare disorder. Understanding the structural abnormalities in the brain that are associated with PMS is an essential step towards elucidating the mechanisms of the disease. Neuroimaging may help us understand risk stratification, prognosis, intervention, and/or treatment response for these patients. Further longitudinal work is needed to understand how the observed abnormalities may evolve over time.

Scientific Focus Area: Neuroscience

This page was last updated on Tuesday, August 6, 2024