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.
An international study recently published in the journal Nature Genetics has provided the first firm evidence that for a substantial number of people, their cerebral palsy (CP) may be caused by a genetic mutation, or mis-spelling in the body’s DNA blueprint.
"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."
As 20% of women with CP surveyed experienced pregnancy, there is a need to increase awareness, education, support, and advocacy for achievement of optimal reproductive health.
This fact sheet has been created for women with cerebral palsy to provide answers to some common questions about CP, pregnancy, and birth. Women with CP should follow general guidelines about getting healthy before getting pregnant, but women with CP may need to do other things as well to prepare for pregnancy.
Let me tell you about multimodal communication. We, as typical communicators, all use many different strategies. We use speech, gestures, facial expressions, technology, and no-tech solutions. As communicators, we all size up the situation based upon our communication partners, the context, the environment and then we choose to use the most effective communication strategy.
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.
Cerebral palsy is a damage to the developing brain in the motor part of the brain. Individuals with cerebral palsy have problems with weakness and sometimes also involuntary movements.