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.
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.
Can there be a genetic cause of Cerebral Palsy in some cases? Let's Talk CP host, Cynthia Frisina talks with Dr. Michael Kruer about this topic and his ground-breaking research in Part 2 of a two-part discussion about the possible genetic causes of CP. When Michael Kruer was in medical school, he knew he wanted to work with children. With advancements in gene therapy opening up incredible opportunities in neuroscience, he realized he could be a part of something much bigger than himself and give children affected by movement disorders like cerebral palsy hope that didn’t seem possible just a few years ago.
Drooling is an important problem for many individuals with CP and there are a number of interventions available to treat symptoms. If an individual with CP or their caregiver have concerns about drooling it is important to discuss with a health care provider. Care pathways such as the AACPDM pathway can be a starting point for shared decision making. In all cases, working together as a team is important in choosing the best alternative. Children and adults with CP may have trouble with drooling, or saliva management. In the medical world, drooling is referred to as sialorrhea. Saliva plays an important role in eating but also can interfere with airway clearance and breathing, as well as social participation. When drooling has this kind of impact it becomes important to consider intervention.
If you're interested in learning more about what is involved with genetic testing and how a visit with a genetic counselor might be helpful, join Cynthia Frisina, the host of Let's Talk CP, as she dives deep with licensed genetic counselor, Danielle Lemke and they talk about what genetic counseling really is, how it can help and what it might be used for as it relates to potential genetic causes of cerebral palsy.
Can there be a genetic cause of Cerebral Palsy in some cases? Let's Talk CP host, Cynthia Frisina talks with Dr. Michael Kruer about this topic and his ground-breaking research in Part 1 of a two-part discussion about the possible genetic causes of CP. When Michael Kruer was in medical school, he knew he wanted to work with children. With advancements in gene therapy opening up incredible opportunities in neuroscience, he realized he could be a part of something much bigger than himself and give children affected by movement disorders like cerebral palsy hope that didn’t seem possible just a few years ago.
Many children with cerebral palsy (CP) have difficulty controlling saliva. Drooling varies in severity and can be distressing for the children, families and caregivers. Chronic drooling is referred to as Sialorrhea and occurs as a result of limitations in a person’s ability to control and swallow oral secretions.
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."
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.
