Cerebral palsy is often genetic, study finds
A new study adds to research indicating that a large number of cases of cerebral palsy are genetic. (Dreamtime/TNS)
New research suggests that up to a quarter of cases of cerebral palsy are linked to an underlying genetic condition.
The researchers sequenced the DNA of 50 children and adults with various types of cerebral palsy. About half had no known risk factors for the disease, while the rest were either people with a risk factor like prematurity, brain hemorrhage, or oxygen deprivation, or those considered to be “CP masquerades.” meaning they had most of the symptoms of cerebral palsy but had seen their condition deteriorate over time, which is not typical.
In 26% of cases, sequencing revealed a genetic variant known to cause or likely to cause the developmental disorder, according to results recently published in the Annals of Clinical and Translational Neurology.
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The odds of finding a genetic cause were highest among the “CP masquerades”, but a culprit was also identified in 29% of cases where there was no known risk factor and even in 15% of those who had a known risk factor for cerebral palsy.
“In cerebral palsy, the first thing that comes to mind for many doctors is birth injury or asphyxiation,” said Dr. Siddharth Srivastava, neurologist at Boston Children’s Hospital and lead author of the study. “This idea has become pervasive, both in neurology and orthopedic training and in the general public.”
Srivastava said the research could offer relief to many families.
“A mother of an adult child with CP told us that her genetic diagnosis absolved her of more than three decades of guilt,” Srivastava said. “Many families felt they finally had a sense of closure.”
What’s more, the researchers said understanding the genetics involved actually changed the plan of care for some of the people in the study. A teenager who had always been thought to have cerebral palsy discovered that he had a mutation associated with a progressive neurological disorder and that he should be on the lookout for changes in his condition, for example. And one adult was referred to eye and kidney specialists based on the sequencing results.
“This work is groundbreaking and very exciting,” said Dr. Benjamin Shore, co-director of the Cerebral Palsy and Spasticity Center at Boston Children’s Hospital and researcher on the study. “Historically, the diagnosis of CP was given to many children who presented with elements of muscle stiffness and developmental delay without really understanding the cause. We can now study these causes in much greater detail. I hope that in the future we can provide genetic diagnostics to many more children, especially at CP masquerades.
The researchers said the findings underscore the importance of regularly reassessing children with cerebral palsy to ensure nothing is missing or changing over time.