Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

ABSTRACT:

Background

Neuroimaging abnormalities are detected in 80-86% of individuals with cerebral palsy (CP). Lesional white or grey matter injuries (WMI, GMI) are most common and typically attributed to environmental factors, while genetic causes are thought to underlie non-lesional injuries and normal brain imaging. This hypothesis has not been formally tested, and we aimed to evaluate it using the Australian CP biobank.

Methods

This population-based study included 331 children with CP (195 males, 136 females), born between 1986 and 2018. Genomic DNA extracted from blood or saliva samples underwent sequencing, variant filtering, classification using ACMG-AMP criteria, and variant curation. Probands were classified as 'resolved', 'candidate variant(s) identified', or 'no candidate

SUBMITTER: Berry JG 

PROVIDER: S-EPMC12790587 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature