Cerebral Palsy May Be Caused By Genes in 14% of Cases: Study

New research suggests that about 14% of all cases of cerebral palsy may be caused by genetics.

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, a small, but significant, sub-set of cases may be due to gene variants.

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In a study published by the medical journal Molecular Psychiatry, researchers from the University of Adelaide report indicate that about 14% of all cerebral palsy cases may be blamed on genetics.

“Cerebral palsy is a major neurodevelopmental disorder, which disrupts movement control, and it occurs in 1 in 400 children,” Emeritus Professor Alastair MacLennan, head of the university’s Cerebral Palsy Research Group said in a press release. “While we have long suspected that genes may play a role in the development of cerebral palsy, it wasn’t until our research group mapped the DNA from cerebral palsy families that we could show genetic mutations are likely the cause if the condition in at least 14% of cases.”

The research team conducted whole-exome sequencing of 183 cases of cerebral palsy that included both parents, one parent or just the child with CP. They found 61 protein-altering variants in parent-child trios as well as a variety of other genetic factors such as chromosome variants and mutations that could be at play.

“In total, 14% of CP cases, by strict criteria, had a potentially disease-causing gene variant, Half were in novel genes,” the researchers concluded. “The genetic heterogenity highlights the complexity of the genetic contribution to CP. Function and pathway studies are required to establish the causative role of these putative pathogenic CP genes.”

The findings, which came as a result of 20 years of research, 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.


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