Nearly Half of Cerebral Palsy Cases May Be Linked to Genetics: Study

New research suggests that many cases of cerebral palsy diagnosed each year may have a genetic cause. 

Researchers from the University of Adelaide published a study in the American Journal of Obstetrics & Gynecology last month, indicating that exome sequencing has linked genetic variants to up to 45% of cases of 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.

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 study’s findings suggest that genetics may also play a role in some cases.

“Until recently 1-2% of CP (mostly familial) had been linked to causative mutations. Recent genetic studies of sporadic CP cases using new generation exome sequencing show that 14% of cases have likely causative single gene mutations and up to 31% have clinically relevant copy number variations,” the researchers noted. “Clinical risk factors could act as triggers for CP where there is genetic susceptibility. These new findings should refocus research about the causes of these complex and varied neurodevelopmental disorders.”

The researchers hypothesize that many cases deemed as “birth asphyxia” may not be the cause of cerebral palsy. The study noted that many such babies suffer health issues at birth due to long-standing problems that existed before their delivery. The study indicates that the rate of about 2.5 cerebral palsy cases per 1,000 births has remained steady, despite advances in preventing and treating birth hypoxia from birth injuries or botched deliveries.

This latest study comes on the heels of a study published in the medical journal Molecular Psychiatry in February, which indicated that about 14% of all cerebral palsy cases could be blamed on genetics.

Both studies appear to support findings published in July 2014 in the British Medical Journal by Norwegian researchers, who found that the twin of a child with cerebral palsy was more than 15 times more likely to also have a CP diagnosis. The researchers in that study also found that the younger sibling of a child with CP was 9.2 times higher than normal, and parents with CP were 6.5 times more likely to have a child with CP than other parents.