Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.

ABSTRACT:

Importance

Single gene variants can cause cerebral palsy (CP) phenotypes, yet the impact of genetic diagnosis on CP clinical management has not been systematically evaluated.

Objective

To evaluate how frequently genetic testing results would prompt changes in care for individuals with CP and the clinical utility of precision medicine therapies.

Data sources

Published pathogenic or likely pathogenic variants in OMIM genes identified with exome sequencing in clinical (n = 1345) or research (n = 496) cohorts of CP were analyzed. A systematic literature review for evidence of effective therapies for specific genetic etiologies was performed.

Study selection

Nonstandard interventions that led to a detectable improvement in a defined outcome in individuals with varia

SUBMITTER: Lewis SA 

PROVIDER: S-EPMC11612911 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature