Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutieres Syndrome as an Example.

ABSTRACT: Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by co-morbidities such as intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits. Despite the established role of hypoxic-ischemic injury in some CP cases, several studies suggest that birth asphyxia is actually an uncommon cause, accounting for <10% of CP cases. For children with CP in the absence of traditional risk factors, a genetic basis to their condition is increasingly suspected. Several recent studies indeed confirm copy number variants and single gene mutations with large genetic heterogeneity as an etiology in children with CP. Here, we report three patients with spastic cerebral palsy and a genetically confirmed di

SUBMITTER: Beysen D 

PROVIDER: S-EPMC8100223 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature