Most cases of cerebral palsy result from some type of birth injury or complication, such as asphyxia or prolonged labor. Recent research from Harvard Medical School indicates that genetics may play a bigger role in the development of this condition than previously thought. This understanding will help improve both diagnosis and treatment for children with cerebral palsy.
Genetic Factors in Cerebral Palsy
While complications of pregnancy and delivery account for most cases of the brain damage that causes cerebral palsy, genetics also play a role. Of the nearly 700,000 children diagnosed with cerebral palsy each year, 20% have no known cause.
According to new research, as much as 25% of all diagnoses might be caused by or related to genetic factors. The study authors sequenced DNA from 50 children with cerebral palsy. Of those, only 20 had known risk factors, such as asphyxia or premature birth.
Among the children with no known risk factors for the condition, 29% had genetic variants that likely caused cerebral palsy. Even those with risk factors had significant genetic variations. In this group, 15% had the related gene mutations.
Understanding the Causes Helps Children with Cerebral Palsy
Having genetic factors related to cerebral palsy will help doctors and researchers better understand the condition. Not knowing the cause of a disease makes it impossible to fully understand or treat. One of the most important consequences of uncovering genetic causes for the condition is the development of a more precise diagnosis.
Getting a cerebral palsy diagnosis is notoriously challenging. With no single cause and significant variation in symptoms, there is no simple test for the condition. Doctors look at a child’s symptoms and developmental delays to diagnose it.
Genetic causes mean that a disease can be more precisely diagnosed by sequencing a patient’s DNA. There will likely never be a single test for cerebral palsy, but genetic mutations can help. It can also pinpoint other diagnoses for a child, including conditions associated with cerebral palsy. DNA analysis will also help doctors rule out other conditions, especially those that are rare or have similar symptoms to cerebral palsy.
Treatment should also benefit from advances in the understanding of cerebral palsy and its genetic origins. Understanding the cause of a disease clarifies treatment. With genetic components, doctors can also make treatment more precise for each child. By looking at a patient’s DNA, doctors and researchers can tailor treatments to that child’s particular needs.
Researchers hope to take this work and expand it. The information will be used by other research groups to develop better tests and treatments. Parents of children with cerebral palsy can also take some comfort from this study. Many parents blame themselves if something went wrong during pregnancy or delivery. But, if genetic factors play a role, it means they couldn’t have done anything differently.