In 10% to 15% of cases, there is no clear cause of CP. There is increasing recognition that genetics plays a part, but no standardized approach to genetic testing in patients with CP exists. In this study we asked the question whether both people with and without known risk factors for CP should have genetic testing.
This study highlights caregiver knowledge and preferences to understanding the GMFCS and how that information should be relayed from clinicians.
The GMFCS, MACS and CFCS are all tools used by therapists and researchers to help classify the functional capabilities of individuals with CP. This research article provides evidence of their stability over time.
The GMFCS can be a helpful tool in clinical and research use and has been shown to be stable and accurate over time. It can also help individuals and families better understand cerebral palsy.
Cohort-based whole exome and whole genome sequencing and copy number variant (CNV) studies have identified genetic etiologies for a sizable proportion of patients with cerebral palsy (CP). These findings indicate that genetic mutations collectively comprise an important cause of CP.
"In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases."