MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

ABSTRACT: Background: MECP2 duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. Methods: A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024. Epidemiological, clinical, and molecular data were collected. A standardized clinical questionnaire was collaboratively developed with input from physicians and parents. Patient photographs were used to train Face2Gene. Results: Thirty-five patients (0-24 years, 30 males) were included. Key features in males comprised intell

SUBMITTER: Vega-Hanna L 

PROVIDER: S-EPMC11720083 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature