Genetic Causes of Cerebral Palsy
A research article published last week in Nature Communications suggests that a small percentage of cerebral palsy cases may be at least partially attributed to genetics. Scientists and physicians have long considered genetic risk factors and this population-based genetic study is a major step in understanding the genetics of some people with cerebral palsy.
That being said, assertions in the media that 10% of CP is caused by genetics are not based on evidence. In fact, the study’s scientists never made this claim.
The study revealed that in a group of 115 parent-child with CP trios, 11 trios demonstrated copy number variations (9.6%). Copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next. The study did not prove that CNV affects the development of cerebral palsy. It demonstrated a correlation in its sample, not causation.
Scientists do not know how or the extent to which CNV contributes to cerebral palsy and its underlying genetic causes remain unknown.
Inaccurate news coverage of this study’s findings could deter parents from investigating the cause of their child’s condition. Parents should not be dissuaded by medical professionals who cite genetic causes because such assertions are premature at this stage of scientific understanding.
Every parent has a right to uncover what happened before, during, and after their child’s birth to cause cerebral palsy. This involves ruling out traumatic brain injury—which remains the main cause of cerebral palsy. Parents are advised to first find a lawyer who can coordinate an independent medical review to determine if cerebral palsy was caused by preventable damage to the developing brain. Such causes may be oxygen deprivation, infection, or physical trauma.
Only after the systematic exclusion of birth injury should genetics be considered a possible cause.
Guidelines for diagnostic assessment of CP do not recommend routine genetic testing, according to the study’s authors. Investigating the genetic makeup of an individual child with cerebral palsy proves little at this juncture.
This study does, however, add weight to a genomic basis for cerebral palsy in some individuals.