This presentation from the 2023 AACPDM Community Forum presents and overview and a model creating opportunities for employment for individuals with disabilities.
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.
It is important to understand how spasticity can impact the muscles and the know what treatments are available to help.
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.
We got the diagnosis of Cerebral Palsy when Lelia was 18 months. I was really happy, as we didn’t know what was wrong with her before then. She had low tone. She couldn’t roll over. She couldn’t sit up. Of course she didn’t walk. The diagnosis gave it a name, something I could work with, and I became a kind of vigilante mother, determined to get the best care for my daughter.
To give you an idea about genetic variation between each of us, there are about three million differences in our genetic code. They go to influence the color of our hair and the color of our eyes, the way we walk.