In this special episode from the AACPDM annual meeting, Belinda Deramore Denver talks about vision in CP and her current work to better understand how children use their vision to help intervene early and with the right interventions.
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.