Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.

ABSTRACT:

Background

22q11.2 deletion syndrome (22q11DS) is a common microdeletion associated with widespread brain alterations and elevated risk for schizophrenia and other neuropsychiatric conditions. Prospective research studies often exclude individuals with severe cognitive impairment, medical comorbidities, or inability to tolerate research MRI without sedation, features common in 22q11DS. This limits both the generalizability of neuroimaging findings and our understanding of the full phenotypic spectrum. Moreover, while standard brain growth charts quantify deviation from typical development, they cannot identify patients who are disproportionately affected relative to their genetic peers, limiting clinical utility for risk stratification. Leveraging clinical MRI data offers a scalabl

SUBMITTER: Jung B 

PROVIDER: S-EPMC12676546 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature