Cerebral Palsy Caused By Genetics in 10% of Cases: Study

Far fewer cases of cerebral palsy are likely caused by genetics than some other recent studies have suggested, according to Canadian researchers, who indicate that genetics may play a role in less than 10% of all children diagnosed with cerebral palsy.

Cerebral palsy is a neurological disorder that is usually attributed to brain damage suffered before, during or shortly after birth. A lack of oxygen to the baby’s brain may result in the irreversible damage that leaves them with a life-time disability, including limitations on motor function and other developmental problems. However, recent studies have suggested that genetics may impact the cerebral palsy risk in some cases.

In a study published this month in the medical journal Nature Communications, researchers conducted genetic testing on 115 children with cerebral palsy, testing their parents as well.

Eleven of the children, or about 9.6%, tested positive for copy number variations (CNV), which researchers indicate would have impacted their diagnosis or classification of cerebral palsy.

Copy number variations (CNV) occurs when imperfect copies of the person’s DNA exist in cells. In some cases, these CNVs appeared to have been passed down from parents, and in other cases they were the results of mutation.

While medical mistakes are often identified as the cause of cerebral palsy, where a failure to follow the appropriate standards of medical care results in the brain damage, the researchers recommend that all children diagnosed with the condition undergo genetic testing.

The findings of this latest study indicate that the number of cases of cerebral palsy impacted by genetics may be far less than prior research has suggested. A study published earlier this year in the medical journal Molecular Psychiatry found that genetic mutations are likely the cause of cerebral palsy in at least 14% of cases. However, in a study published in the American Journal of Obstetrics & Gynecology in May 2015, researchers from the University of Adelaide suggested that exome sequencing may link genetic variants to up to 45% of cases of cerebral palsy.

“A complete understanding of the effects of genotypes and environmental stressors on the clinical presentation(s) and manifestations of CP will require larger studies,” according to conclusions drawn in this most recent study. “In light of our new findings, however, we recommend that genomic analyses, in particular, high-resolution microarrays as a first tier and ultimately whole-genome sequencing, be integrated into the standard of practice for diagnosis and clinical categorization of CP.”