Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.

ABSTRACT:

Importance

Cerebral palsy is a common neurodevelopmental disorder affecting movement and posture that often co-occurs with other neurodevelopmental disorders. Individual cases of cerebral palsy are often attributed to birth asphyxia; however, recent studies indicate that asphyxia accounts for less than 10% of cerebral palsy cases.

Objective

To determine the molecular diagnostic yield of exome sequencing (prevalence of pathogenic and likely pathogenic variants) in individuals with cerebral palsy.

Design, setting, and participants

A retrospective cohort study of patients with cerebral palsy that included a clinical laboratory referral cohort with data accrued between 2012 and 2018 and a health care-based cohort with data accrued between 2007 and 2017.

Exposures

E

SUBMITTER: Moreno-De-Luca A 

PROVIDER: S-EPMC7856544 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature